From 1b30221ba96ff5e7c400b9594c59b56521955a8b Mon Sep 17 00:00:00 2001 From: Nico Matentzoglu Date: Wed, 31 Jan 2024 23:54:13 +0200 Subject: [PATCH] Update release files --- docs/metrics/doid.md | 24 +- docs/metrics/gard.md | 2 +- docs/metrics/icd10cm.md | 2 +- docs/metrics/icd10who.md | 2 +- docs/metrics/ncit.md | 2 +- docs/metrics/omim.md | 22 +- docs/metrics/ordo.md | 20 +- docs/reports/mapped_deprecated.md | 2 +- docs/reports/migrate.md | 8 +- docs/reports/migrate_doid.md | 276 +-- docs/reports/migrate_ncit.md | 1 - docs/reports/migrate_omim.md | 50 +- docs/reports/migrate_ordo.md | 106 +- docs/reports/unmapped.md | 4 +- docs/reports/unmapped_omim.md | 7 + src/mappings/gard.sssom.tsv | 2 +- src/mappings/icd10cm.sssom.tsv | 2 +- src/mappings/icd10who.sssom.tsv | 2 +- src/mappings/ncit.sssom.tsv | 2 +- src/mappings/omim.sssom.tsv | 39 +- src/ontology/imports/omo_import.owl | 4 +- src/ontology/imports/ro_import.owl | 4 +- src/ontology/lexmatch/README.md | 46 +- src/ontology/lexmatch/all_exact.robot.tsv | 1632 ++++++++--------- .../mondo-only/unmapped_ordo_mondo.tsv | 1 + .../mondo_closematch_omim.tsv | 1 + .../mondo_closematch_omimps.tsv | 1 + .../mondo_exactmatch_omim.tsv | 237 +-- .../mondo_exactmatch_omimps.tsv | 2 + .../mondo_exactmatch_orphanet.tsv | 1 + src/ontology/lexmatch/unmapped_omim_lex.tsv | 3 + src/ontology/metadata/doid-metrics.json | 98 +- src/ontology/metadata/gard-metrics.json | 2 +- src/ontology/metadata/icd10cm-metrics.json | 2 +- src/ontology/metadata/icd10who-metrics.json | 2 +- src/ontology/metadata/ncit-metrics.json | 2 +- src/ontology/metadata/omim-metrics.json | 94 +- src/ontology/metadata/ordo-metrics.json | 78 +- .../reports/component_signature-omim.tsv | 13 + .../reports/doid.subclass.added.robot.tsv | 1 - .../reports/mirror_signature-doid.tsv | 4 + .../reports/mirror_signature-mondo.tsv | 3 + .../reports/mirror_signature-omim.tsv | 12 + .../reports/ncit.subclass.added.robot.tsv | 1 - .../omim_exclusion_reasons.robot.template.tsv | 10 + src/ontology/reports/omim_mapping_status.tsv | 20 +- src/ontology/reports/omim_term_exclusions.txt | 5 + src/ontology/reports/omim_unmapped_terms.tsv | 7 + .../reports/ordo.subclass.confirmed.robot.tsv | 1 - .../sync-subClassOf.direct-in-mondo-only.tsv | 4 +- src/ontology/slurp/ncit.tsv | 1 - src/ontology/slurp/omim.tsv | 82 +- src/ontology/slurp/ordo.tsv | 100 +- 53 files changed, 1673 insertions(+), 1376 deletions(-) diff --git a/docs/metrics/doid.md b/docs/metrics/doid.md index 9b98d9c7..fdd160d7 100644 --- a/docs/metrics/doid.md +++ b/docs/metrics/doid.md @@ -2,16 +2,16 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/doid.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2023-11-07/doid.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-01-31/doid.owl ### Entities and axioms | Metric | Value | | ------ | ----- | | Annotation properties | 25 | -| Axioms | 113059 | -| Logical axioms | 15835 | -| Classes | 12928 | +| Axioms | 113780 | +| Logical axioms | 15964 | +| Classes | 12996 | | Object properties | 2 | | Data properties | 0 | | Individuals | 0 | @@ -32,10 +32,10 @@ | Metric | Value | | ------ | ----- | -| AnnotationAssertion | 84271 | +| AnnotationAssertion | 84795 | | DisjointClasses | 26 | -| Declaration | 12953 | -| SubClassOf | 15809 | +| Declaration | 13021 | +| SubClassOf | 15938 | #### Entity namespaces: axiom counts by namespace @@ -44,15 +44,15 @@ | ------ | ----- | | oboInOwl | 11 | | owl | 2 | -| DOID | 11388 | -| HP | 115 | +| DOID | 11456 | +| HP | 117 | | xsd | 1 | | CL | 61 | | skos | 5 | | BFO | 2 | | rdfs | 2 | | FOODON | 24 | -| NCBITaxon | 320 | +| NCBITaxon | 319 | | TRANS | 13 | | SYMP | 306 | | dc11 | 2 | @@ -61,7 +61,7 @@ | IAO | 2 | | UBERON | 393 | | SO | 17 | -| obo | 191 | +| obo | 190 | | GENO | 10 | | dc | 1 | @@ -70,7 +70,7 @@ | Metric | Value | | ------ | ----- | -| Class | 44758 | +| Class | 45084 | More information about the source can be found [in the documentation](../sources.md). The raw data (ontology metrics) can be found [on GitHub](https://github.com/monarch-initiative/mondo-ingest/tree/main/src/ontology/metadata). diff --git a/docs/metrics/gard.md b/docs/metrics/gard.md index d6d9b582..e3e23548 100644 --- a/docs/metrics/gard.md +++ b/docs/metrics/gard.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/gard.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2023-11-08/gard.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-01-31/gard.owl ### Entities and axioms diff --git a/docs/metrics/icd10cm.md b/docs/metrics/icd10cm.md index 136484a7..00c81042 100644 --- a/docs/metrics/icd10cm.md +++ b/docs/metrics/icd10cm.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/icd10cm.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2023-11-08/icd10cm.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-01-31/icd10cm.owl ### Entities and axioms diff --git a/docs/metrics/icd10who.md b/docs/metrics/icd10who.md index f339460c..5ba3b7ae 100644 --- a/docs/metrics/icd10who.md +++ b/docs/metrics/icd10who.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/icd10who.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2023-11-08/icd10who.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-01-31/icd10who.owl ### Entities and axioms diff --git a/docs/metrics/ncit.md b/docs/metrics/ncit.md index adfa1800..cb24c12c 100644 --- a/docs/metrics/ncit.md +++ b/docs/metrics/ncit.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/ncit.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2023-11-08/ncit.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-01-31/ncit.owl ### Entities and axioms diff --git a/docs/metrics/omim.md b/docs/metrics/omim.md index 8b5ab830..360f0976 100644 --- a/docs/metrics/omim.md +++ b/docs/metrics/omim.md @@ -2,16 +2,16 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/omim.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2023-11-08/omim.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-01-31/omim.owl ### Entities and axioms | Metric | Value | | ------ | ----- | | Annotation properties | 13 | -| Axioms | 348742 | -| Logical axioms | 36188 | -| Classes | 31563 | +| Axioms | 349945 | +| Logical axioms | 36367 | +| Classes | 31683 | | Object properties | 6 | | Data properties | 0 | | Individuals | 0 | @@ -32,22 +32,22 @@ | Metric | Value | | ------ | ----- | -| AnnotationAssertion | 280976 | -| Declaration | 31578 | -| SubClassOf | 36188 | +| AnnotationAssertion | 281880 | +| Declaration | 31698 | +| SubClassOf | 36367 | #### Entity namespaces: axiom counts by namespace | Metric | Value | | ------ | ----- | -| prefix_unknown | 30117 | +| prefix_unknown | 30236 | | oboInOwl | 3 | | owl | 2 | | xsd | 1 | | skos | 1 | | rdfs | 2 | -| CHR | 1445 | +| CHR | 1446 | | MONDO | 1 | | rdf | 1 | | IAO | 2 | @@ -60,8 +60,8 @@ | Metric | Value | | ------ | ----- | -| Class | 103933 | -| ObjectSomeValuesFrom | 14240 | +| Class | 104411 | +| ObjectSomeValuesFrom | 14302 | More information about the source can be found [in the documentation](../sources.md). The raw data (ontology metrics) can be found [on GitHub](https://github.com/monarch-initiative/mondo-ingest/tree/main/src/ontology/metadata). diff --git a/docs/metrics/ordo.md b/docs/metrics/ordo.md index 88ccda2a..872ce48b 100644 --- a/docs/metrics/ordo.md +++ b/docs/metrics/ordo.md @@ -2,16 +2,16 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/ordo.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2023-11-08/ordo.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-01-31/ordo.owl ### Entities and axioms | Metric | Value | | ------ | ----- | | Annotation properties | 8 | -| Axioms | 144682 | -| Logical axioms | 42458 | -| Classes | 14994 | +| Axioms | 155842 | +| Logical axioms | 42481 | +| Classes | 14917 | | Object properties | 3 | | Data properties | 0 | | Individuals | 0 | @@ -32,16 +32,16 @@ | Metric | Value | | ------ | ----- | -| AnnotationAssertion | 87221 | -| Declaration | 15003 | -| SubClassOf | 42458 | +| AnnotationAssertion | 98435 | +| Declaration | 14926 | +| SubClassOf | 42481 | #### Entity namespaces: axiom counts by namespace | Metric | Value | | ------ | ----- | -| prefix_unknown | 14994 | +| prefix_unknown | 14917 | | oboInOwl | 5 | | owl | 1 | | rdf | 1 | @@ -55,8 +55,8 @@ | Metric | Value | | ------ | ----- | -| Class | 99910 | -| ObjectSomeValuesFrom | 6688 | +| Class | 99879 | +| ObjectSomeValuesFrom | 6737 | More information about the source can be found [in the documentation](../sources.md). The raw data (ontology metrics) can be found [on GitHub](https://github.com/monarch-initiative/mondo-ingest/tree/main/src/ontology/metadata). diff --git a/docs/reports/mapped_deprecated.md b/docs/reports/mapped_deprecated.md index 82530f6b..60069e8c 100644 --- a/docs/reports/mapped_deprecated.md +++ b/docs/reports/mapped_deprecated.md @@ -5,9 +5,9 @@ | [DOID](./mapped_deprecated_doid.md) | 3 | | [ORDO](./mapped_deprecated_ordo.md) | 225 | | [NCIT](./mapped_deprecated_ncit.md) | 12 | +| [GARD](./mapped_deprecated_gard.md) | 0 | | [ICD10CM](./mapped_deprecated_icd10cm.md) | 0 | | [ICD10WHO](./mapped_deprecated_icd10who.md) | 0 | -| [GARD](./mapped_deprecated_gard.md) | 0 | `Ontology`: Name of ontology `Tot deprecated in Mondo`: Total terms that the ontology source itself has deprecated which have existing xrefs in Mondo diff --git a/docs/reports/migrate.md b/docs/reports/migrate.md index 73e1185b..1ccdcf3d 100644 --- a/docs/reports/migrate.md +++ b/docs/reports/migrate.md @@ -1,12 +1,12 @@ # Migratable terms | Ontology | Tot | |:----------------------------------|:------| +| [ORDO](./migrate_ordo.md) | 97 | | [GARD](./migrate_gard.md) | 9,370 | -| [OMIM](./migrate_omim.md) | 67 | -| [ORDO](./migrate_ordo.md) | 3 | -| [NCIT](./migrate_ncit.md) | 2,180 | +| [NCIT](./migrate_ncit.md) | 2,179 | +| [DOID](./migrate_doid.md) | 155 | | [ICD10WHO](./migrate_icd10who.md) | 119 | -| [DOID](./migrate_doid.md) | 115 | +| [OMIM](./migrate_omim.md) | 107 | | [ICD10CM](./migrate_icd10cm.md) | 1,889 | ### Codebook diff --git a/docs/reports/migrate_doid.md b/docs/reports/migrate_doid.md index 7883425d..eb1d0a6a 100644 --- a/docs/reports/migrate_doid.md +++ b/docs/reports/migrate_doid.md @@ -2,121 +2,161 @@ [Interactive FlatGithub table](https://flatgithub.com/monarch-initiative/mondo-ingest?filename=src/ontology/slurp/doid.tsv) ### Migratable terms -| mondo_id | mondo_label | xref | xref_source | original_label | definition | parents | -|:--------------|:----------------------------------------------------------------------------|:---------------------|:---------------------------|:----------------------------------------------------------------------------|:---------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------|:----------------------------| -| ID | LABEL | A oboInOwl:hasDbXref | >A oboInOwl:source SPLIT=| | | A IAO:0000115 | SC % | -| MONDO:0956962 | benign teratoma | DOID:0080602 | MONDO:equivalentTo | benign teratoma | A germ cell benign neoplasm that derives_from mature tissue elements or a limited amount of immature tissue elements. | MONDO:0850144 | -| MONDO:0956964 | medulloblastoma shh activated and tp53 mutant | DOID:0080704 | MONDO:equivalentTo | medulloblastoma SHH activated and TP53 mutant | A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the presence of TP53 mutations. | MONDO:0850197 | -| MONDO:0956965 | medulloblastoma shh activated and tp53 wild-type | DOID:0080705 | MONDO:equivalentTo | medulloblastoma SHH activated and TP53 wild-type | A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the absence of TP53 mutations. | MONDO:0850197 | -| MONDO:0956966 | medulloblastoma non-wnt/non-shh group 3 | DOID:0080707 | MONDO:equivalentTo | medulloblastoma non-WNT/non-SHH group 3 | A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by absent TP53 mutations and MYC amplifications that may be present. | MONDO:0850198 | -| MONDO:0956967 | medulloblastoma non-wnt/non-shh group 4 | DOID:0080708 | MONDO:equivalentTo | medulloblastoma non-WNT/non-SHH group 4 | A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by the absence of MYC amplifications and TP53 mutations, while chromosome 17 abnormalities may be present. | MONDO:0850198 | -| MONDO:0956968 | gene duplication disease | DOID:0080712 | MONDO:equivalentTo | gene duplication disease | A monogenic disease that is the result of a mutation that involves the production of one or more copies of a gene. | MONDO:0000275 | -| MONDO:0956969 | chronic inducible urticaria | DOID:0080748 | MONDO:equivalentTo | chronic inducible urticaria | A chronic urticaria that is characterized by a history of a consistent stimulus that initiates lesions, which are typically short-lived and fleeting, lasting a few minutes up to 2 hours. | MONDO:0850230 | -| MONDO:0956970 | chronic spontaneous urticaria | DOID:0080749 | MONDO:equivalentTo | chronic spontaneous urticaria | A chronic urticaria that is characterized by urticaria independent of any exogenous stimulus. | MONDO:0850230 | -| MONDO:0956971 | intermittent asthma | DOID:0080812 | MONDO:equivalentTo | intermittent asthma | A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control two or fewer days per week and no interference with normal activity. | MONDO:0850282 | -| MONDO:0956972 | persistent mild asthma | DOID:0080813 | MONDO:equivalentTo | persistent mild asthma | A chronic asthma that is characterized by severity with symptoms two or more days per week, nighttime awakenings three to four times per month, use of short-acting beta agonist for symptom control two or more days per week and minor limitation of normal activity. | MONDO:0850282 | -| MONDO:0956973 | persistent moderate asthma | DOID:0080814 | MONDO:equivalentTo | persistent moderate asthma | A chronic asthma that is characterized by severity with daily symptoms, nighttime awakenings more than once per week, daily use of short-acting beta agonist for symptom control and some limitation of normal activity. | MONDO:0850282 | -| MONDO:0956974 | adult-onset severe asthma | DOID:0080816 | MONDO:equivalentTo | adult-onset severe asthma | A chronic asthma that is characterized by first presentation in adulthood. | MONDO:0850282 | -| MONDO:0956975 | t2-high asthma | DOID:0080817 | MONDO:equivalentTo | T2-high asthma | A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of early-onset allergic asthma, late-onset eosinophilic asthma, and aspirin-exacerbated respiratory disease. | MONDO:0850282 | -| MONDO:0956976 | t2-low asthma | DOID:0080818 | MONDO:equivalentTo | T2-low asthma | A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of non-atopic, smoking, obesity related, and elderly and that is characterized by neutrophilic (sputum neutrophils > 40–60%) or paucigranulocytic (i.e., normal sputum levels of both eosinophils and neutrophils) inflammation and a lack of response to corticosteroid therapy. | MONDO:0850282 | -| MONDO:0956977 | near-fatal asthma | DOID:0080823 | MONDO:equivalentTo | near-fatal asthma | An acute asthma that is characterized by a respiratory arrest or arterial carbon dioxide tension greater than 50 mmHg, with or without altered consciousness, requiring mechanical ventilation. | MONDO:0850283 | -| MONDO:0956978 | persistent severe asthma | DOID:0080824 | MONDO:equivalentTo | persistent severe asthma | A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control several times per day and extremely limited normal activity. | MONDO:0850282 | -| MONDO:0956979 | nocturnal asthma | DOID:0080826 | MONDO:equivalentTo | nocturnal asthma | A chronic asthma that is characterized by significant decline in pulmonary function and increase of airway inflammation at night. During sleep, recumbent posture causes a reduction in the lung volumes, respiratory muscle tone, and lung compliance. The overnight physiological abnormalities include: increased airway inflammation and decreased steroid responsiveness, increased pulmonary capillary blood volume, functional differences in blood/air volume ratios and mechanical coupling of the parenchyma to the airways. | MONDO:0850282 | -| MONDO:0956980 | vascular parkinsonism | DOID:0080856 | MONDO:equivalentTo | vascular Parkinsonism | A Parkinsonism that is characterized by postural instability, a broad-based gait with the absence of tremors of vascular origin. | MONDO:0021095 | -| MONDO:0956981 | astrocytoma, idh-mutant, grade 4 | DOID:0080877 | MONDO:equivalentTo | astrocytoma, IDH-mutant, grade 4 | An IDH-mutant anaplastic astrocytoma that is characterized by the presence of necrosis and/or microvascular proliferation or homozygous deletion of CDKN2A and/or CDKN2B genes. The term glioblastoma no longer applies to central nervous system WHO grade 4 IDH-mutant astrocytomas. | MONDO:0850332 | -| MONDO:0956983 | pleomorphic xanthoastrocytoma braf mutant | DOID:0080881 | MONDO:equivalentTo | pleomorphic xanthoastrocytoma BRAF mutant | An anaplastic pleomorphic xanthoastrocytoma that has_material_basis_in BRAF mutations. | MONDO:0850312 | -| MONDO:0956984 | yap1-mamld1 fusion-positive supratentorial ependymoma | DOID:0080891 | MONDO:equivalentTo | YAP1-MAMLD1 fusion-positive supratentorial ependymoma | A supratentorial ependymoma that has_material_basis_in YAP1-MAMLD1 fusion. | MONDO:0850340 | -| MONDO:0956985 | lipofibromatosis-like neural tumor | DOID:0080894 | MONDO:equivalentTo | lipofibromatosis-like neural tumor | A connective tissue cancer that has_material_basis_in LMNA-NTRK1 gene fusion. | MONDO:0002176 | -| MONDO:0956986 | solitary fibrous tumor/hemangiopericytoma | DOID:0080897 | MONDO:equivalentTo | solitary fibrous tumor/hemangiopericytoma | A connective tissue cancer that is characterized as the combination of solitary fibrous tumors and hemangiopericytomas. | MONDO:0002176 | -| MONDO:0956987 | ezb-myc+ diffuse large b-cell lymphoma | DOID:0081070 | MONDO:equivalentTo | EZB-MYC+ diffuse large B-cell lymphoma | An EZB diffuse large B-cell lymphoma that expresses the double hit gene expression signature (DHITsig+) according to gene expression profiling. In addition to the features characteristic of EZB, these cases commonly, but do not always, harbour MYC translocations and DDX3X mutations. | MONDO:0850469 | -| MONDO:0956988 | ezb-myc- diffuse large b-cell lymphoma | DOID:0081071 | MONDO:equivalentTo | EZB-MYC- diffuse large B-cell lymphoma | An EZB diffuse large B-cell lymphoma that does not express the double hit gene expression signature (DHITsig-) according to gene expression profiling. These cases tend to have few MYC translocations or DDX3X mutations. | MONDO:0850469 | -| MONDO:0956989 | cic-rearranged sarcoma | DOID:0081250 | MONDO:equivalentTo | CIC-rearranged sarcoma | An EWSERI-negative small round cell tumor that is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and either DUX4 gene on chromosome 4 or DUX4L gene on chromosome 10. The translocation results in either CIC-DUX4, t(4;19)(q35;q13) or CIC-DUX4L, t(10;19)(q26;q13) fusions. | MONDO:0858921 | -| MONDO:0956990 | supratentorial ependymoma, zfta fusion–positive | DOID:0081252 | MONDO:equivalentTo | supratentorial ependymoma, ZFTA fusion–positive | A suptratentorial ependymoma that is characterized by the presence of a fusion gene involving ZFTA gene. | MONDO:0850340 | -| MONDO:0956991 | supratentorial ependymoma, yap1 fusion–positive | DOID:0081253 | MONDO:equivalentTo | supratentorial ependymoma, YAP1 fusion–positive | A supratentorial ependymoma that is characterized by the presence of a fusion gene involving YAP1 gene. | MONDO:0850340 | -| MONDO:0956992 | posterior fossa group a ependymoma | DOID:0081254 | MONDO:equivalentTo | posterior fossa group A ependymoma | A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns, including CpG island hypermethylation, global DNA hypomethylation, reduction of nuclear H3 p.K28me3 (K27me3) expression, and EZHIP overexpression. | MONDO:0850339 | -| MONDO:0956993 | posterior fossa group b ependymoma | DOID:0081255 | MONDO:equivalentTo | posterior fossa group B ependymoma | A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns including retention of nuclear H3 p.K28me3 (K27me3) expression, absence of CpG island hypermethylation, absence of global DNA hypomethylation, and absence of EZHIP overexpression. | MONDO:0850339 | -| MONDO:0956994 | astrocytoma, idh-mutant, grade 2 | DOID:0081256 | MONDO:equivalentTo | astrocytoma, IDH-mutant, grade 2 | An IDH-mutant anaplastic astrocytoma that is characterized by the presence of well-differentiated fibrillary glial cells diffusely infiltrating the central nervous system. | MONDO:0850332 | -| MONDO:0956995 | astrocytoma, idh-mutant, grade 3 | DOID:0081257 | MONDO:equivalentTo | astrocytoma, IDH-mutant, grade 3 | An IDH-mutant anaplastic astrocytoma that is characterized by the presence of increased mitotic activity and anaplastic features. | MONDO:0850332 | -| MONDO:0956996 | oligodendroglioma, idh-mutant and 1p/19q-codeleted grade 2 | DOID:0081281 | MONDO:equivalentTo | oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2 | An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as a well differentiated tumor lacking anaplastic features (brisk mitotic activity, microvascular proliferation, necrosis). | MONDO:0859592 | -| MONDO:0956997 | oligodendroglioma, idh-mutant and 1p/19q-codeleted, grade 3 | DOID:0081282 | MONDO:equivalentTo | oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3 | An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as grade 3 tumors associated with a more rapid growth. Grade 3 tumors appear to have abnormalities on chromosomes 9 or 10, along with unusual amounts of growth factors and proteins, which are thought to contribute to the more rapid growth of these gliomas. | MONDO:0859592 | -| MONDO:0957118 | bradyopsia 2 | DOID:0070364 | MONDO:equivalentTo | bradyopsia 2 | | MONDO:0012033 | -| MONDO:0957120 | nevoid basal cell carcinoma syndrome 2 | DOID:0070366 | MONDO:equivalentTo | nevoid basal cell carcinoma syndrome 2 | | MONDO:0007187 | -| MONDO:0957121 | leukoencephalopathy with vanishing white matter 5 | DOID:0070367 | MONDO:equivalentTo | leukoencephalopathy with vanishing white matter 5 | | MONDO:0800448 | -| MONDO:0957122 | leukoencephalopathy with vanishing white matter 4 | DOID:0070371 | MONDO:equivalentTo | leukoencephalopathy with vanishing white matter 4 | | MONDO:0800448 | -| MONDO:0957123 | leukoencephalopathy with vanishing white matter 3 | DOID:0070372 | MONDO:equivalentTo | leukoencephalopathy with vanishing white matter 3 | | MONDO:0800448 | -| MONDO:0957124 | leukoencephalopathy with vanishing white matter 2 | DOID:0070373 | MONDO:equivalentTo | leukoencephalopathy with vanishing white matter 2 | | MONDO:0800448 | -| MONDO:0957127 | developmental and epileptic encephalopathy 31b | DOID:0070376 | MONDO:equivalentTo | developmental and epileptic encephalopathy 31B | | MONDO:0100062|MONDO:0006025 | -| MONDO:0957181 | epidermolytic hyperkeratosis 2 | DOID:0081359 | MONDO:equivalentTo | epidermolytic hyperkeratosis 2 | An epidermolytic hyperkeratosis that is characterized by generalized erythema, erosions, scaling, and easily breaking blisters that become less frequent later in life, while hyperkeratosis increases and that has_material_basis_in heterozygous or homozygous mutation in the keratin-10 gene (KRT10) on chromosome 17q21. | MONDO:0007239 | -| MONDO:0957195 | digenic disease | DOID:0080578 | MONDO:equivalentTo | digenic disease | | | -| MONDO:0957196 | diffuse midline glioma, h3 k27m-mutant | DOID:0080684 | MONDO:equivalentTo | diffuse midline glioma, H3 K27M-mutant | A histone mutated tumor that is characterized by the presence of histone H3 K27M mutation located throughout the midline structures of the central nervous system. | | -| MONDO:0957197 | diffuse glioma, h3 g34 mutant | DOID:0080880 | MONDO:equivalentTo | diffuse glioma, H3 G34 mutant | A histone mutated tumor that has_material_basis_in mutations in codon 34 of the H3 histone family 3A protein. | | -| MONDO:0957327 | congenital myopathy 20 | DOID:0081352 | MONDO:equivalentTo | congenital myopathy 20 | A congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the RYR3 gene on chromosome 15q13 and that shows wide phenotypic variability. Some patients present in early childhood with proximal muscle weakness affecting the lower and upper limbs resulting in difficulties running and climbing, whereas others present soon after birth with congenital limb or distal contractures. | MONDO:0019952|MONDO:0006025 | -| MONDO:0957328 | congenital myopathy 21 | DOID:0081353 | MONDO:equivalentTo | congenital myopathy 21 | A congenital myopathy that is characterized by diaphragmatic weakness and spinal rigidity and that has_material_basis_in homozygous mutation in the DNAJB4 gene on chromosome 1p31. | MONDO:0019952|MONDO:0006025 | -| MONDO:0957329 | congenital myopathy 22a | DOID:0081354 | MONDO:equivalentTo | congenital myopathy 22A | A congenital myopathy that is characterized by onset of muscle weakness in utero or soon after birth and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23. Biallelic mutation in the SCN4A gene also causes severe fetal congenital myopathy 22B. | MONDO:0019952|MONDO:0006025 | -| MONDO:0957330 | congenital myopathy 22b | DOID:0081355 | MONDO:equivalentTo | congenital myopathy 22B | A congenital myopathy that is characterized by in utero onset of severe muscle weakness manifest as fetal akinesia and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23. | MONDO:0019952|MONDO:0006025 | -| MONDO:0957353 | progressive leukoencephalopathy with ovarian failure | DOID:0070396 | MONDO:equivalentTo | progressive leukoencephalopathy with ovarian failure | | MONDO:0019046|MONDO:0006025 | -| MONDO:0957354 | combined oxidative phosphorylation deficiency 44 | DOID:0070424 | MONDO:equivalentTo | combined oxidative phosphorylation deficiency 44 | | MONDO:0006025|MONDO:0000732 | -| MONDO:0957355 | combined oxidative phosphorylation deficiency 52 | DOID:0070425 | MONDO:equivalentTo | combined oxidative phosphorylation deficiency 52 | | MONDO:0000732|MONDO:0006025 | -| MONDO:0957356 | combined oxidative phosphorylation deficiency 53 | DOID:0070426 | MONDO:equivalentTo | combined oxidative phosphorylation deficiency 53 | | MONDO:0000732|MONDO:0006025 | -| MONDO:0957357 | combined oxidative phosphorylation deficiency 54 | DOID:0070427 | MONDO:equivalentTo | combined oxidative phosphorylation deficiency 54 | | MONDO:0000732|MONDO:0006025 | -| MONDO:0957358 | combined oxidative phosphorylation deficiency 55 | DOID:0070428 | MONDO:equivalentTo | combined oxidative phosphorylation deficiency 55 | | MONDO:0000732|MONDO:0000429 | -| MONDO:0957359 | combined oxidative phosphorylation deficiency 56 | DOID:0070429 | MONDO:equivalentTo | combined oxidative phosphorylation deficiency 56 | | MONDO:0000732|MONDO:0006025 | -| MONDO:0957360 | combined oxidative phosphorylation deficiency 57 | DOID:0070430 | MONDO:equivalentTo | combined oxidative phosphorylation deficiency 57 | | MONDO:0000732|MONDO:0006025 | -| MONDO:0957361 | hyperphosphatasia with impaired intellectual development syndrome | DOID:0070431 | MONDO:equivalentTo | hyperphosphatasia with impaired intellectual development syndrome | | MONDO:0019502 | -| MONDO:0957362 | retinal macular dystrophy | DOID:0070438 | MONDO:equivalentTo | retinal macular dystrophy | | MONDO:0003004|MONDO:0000426 | -| MONDO:0957363 | paroxysmal nonkinesigenic dyskinesia 3 | DOID:0070442 | MONDO:equivalentTo | paroxysmal nonkinesigenic dyskinesia 3 | | MONDO:0003441|MONDO:0000426 | -| MONDO:0957364 | neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | DOID:0070443 | MONDO:equivalentTo | neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | | MONDO:0019502 | -| MONDO:0957365 | neurodevelopmental disorder with language delay and seizures | DOID:0070444 | MONDO:equivalentTo | neurodevelopmental disorder with language delay and seizures | | MONDO:0019502 | -| MONDO:0957366 | early-onset dystonia and/or spastic paraplegia | DOID:0070445 | MONDO:equivalentTo | early-onset dystonia and/or spastic paraplegia | | MONDO:0003441|MONDO:0000426 | -| MONDO:0957367 | mitochondrial dna depletion syndrome 16 | DOID:0070446 | MONDO:equivalentTo | mitochondrial DNA depletion syndrome 16 | | MONDO:0018158|MONDO:0006025 | -| MONDO:0957368 | mitochondrial dna depletion syndrome 16b | DOID:0070447 | MONDO:equivalentTo | mitochondrial DNA depletion syndrome 16B | | MONDO:0018158|MONDO:0006025 | -| MONDO:0957369 | mitochondrial dna depletion syndrome 17 | DOID:0070448 | MONDO:equivalentTo | mitochondrial DNA depletion syndrome 17 | | MONDO:0018158|MONDO:0006025 | -| MONDO:0957370 | mitochondrial dna depletion syndrome 18 | DOID:0070449 | MONDO:equivalentTo | mitochondrial DNA depletion syndrome 18 | | MONDO:0018158|MONDO:0006025 | -| MONDO:0957371 | mitochondrial dna depletion syndrome 19 | DOID:0070450 | MONDO:equivalentTo | mitochondrial DNA depletion syndrome 19 | | MONDO:0018158|MONDO:0006025 | -| MONDO:0957372 | mitochondrial dna depletion syndrome 20 | DOID:0070451 | MONDO:equivalentTo | mitochondrial DNA depletion syndrome 20 | | MONDO:0018158|MONDO:0006025 | -| MONDO:0957378 | ladd syndrome | DOID:0081370 | MONDO:equivalentTo | LADD syndrome | A syndrome that is characterized by defects in the tear-producing lacrimal system, ear problems, dental abnormalities, and deformities of the fingers. | MONDO:0002254 | -| MONDO:0957500 | xanthinuria type i | DOID:0070452 | MONDO:equivalentTo | xanthinuria type I | | MONDO:0018106 | -| MONDO:0957501 | xanthinuria type ii | DOID:0070453 | MONDO:equivalentTo | xanthinuria type II | | MONDO:0018106 | -| MONDO:0957502 | hereditary spastic paraplegia 70 | DOID:0070454 | MONDO:equivalentTo | hereditary spastic paraplegia 70 | | MONDO:0019064|MONDO:0006025 | -| MONDO:0957503 | hereditary spastic paraplegia 79a | DOID:0070455 | MONDO:equivalentTo | hereditary spastic paraplegia 79A | | MONDO:0019064|MONDO:0000426 | -| MONDO:0957504 | hereditary spastic paraplegia 87 | DOID:0070456 | MONDO:equivalentTo | hereditary spastic paraplegia 87 | | MONDO:0019064|MONDO:0006025 | -| MONDO:0957505 | hereditary spastic paraplegia 88 | DOID:0070457 | MONDO:equivalentTo | hereditary spastic paraplegia 88 | | MONDO:0019064|MONDO:0000426 | -| MONDO:0957506 | hereditary spastic paraplegia 89 | DOID:0070458 | MONDO:equivalentTo | hereditary spastic paraplegia 89 | | MONDO:0019064|MONDO:0006025 | -| MONDO:0957507 | hereditary spastic paraplegia 90a | DOID:0070459 | MONDO:equivalentTo | hereditary spastic paraplegia 90A | | MONDO:0019064|MONDO:0000426 | -| MONDO:0957508 | hereditary spastic paraplegia 90b | DOID:0070460 | MONDO:equivalentTo | hereditary spastic paraplegia 90B | | MONDO:0019064|MONDO:0000426 | -| MONDO:0957509 | mitochondrial complex v (atp synthase) deficiency nuclear type 4a | DOID:0070461 | MONDO:equivalentTo | mitochondrial complex V (ATP synthase) deficiency nuclear type 4A | | MONDO:0014091|MONDO:0000426 | -| MONDO:0957510 | mitochondrial complex v (atp synthase) deficiency nuclear type 4b | DOID:0070462 | MONDO:equivalentTo | mitochondrial complex V (ATP synthase) deficiency nuclear type 4B | | MONDO:0014091|MONDO:0006025 | -| MONDO:0957511 | mitochondrial complex v (atp synthase) deficiency nuclear type 5 | DOID:0070463 | MONDO:equivalentTo | mitochondrial complex V (ATP synthase) deficiency nuclear type 5 | | MONDO:0014471|MONDO:0006025 | -| MONDO:0957512 | mitochondrial complex v (atp synthase) deficiency nuclear type 7 | DOID:0070464 | MONDO:equivalentTo | mitochondrial complex V (ATP synthase) deficiency nuclear type 7 | | MONDO:0014471|MONDO:0006025 | -| MONDO:0957513 | carpal tunnel syndrome 1 | DOID:0070466 | MONDO:equivalentTo | carpal tunnel syndrome 1 | | MONDO:0007275|MONDO:0000426 | -| MONDO:0957514 | carpal tunnel syndrome 2 | DOID:0070467 | MONDO:equivalentTo | carpal tunnel syndrome 2 | | MONDO:0007275|MONDO:0000426 | -| MONDO:0957516 | anauxetic dysplasia 1 | DOID:0050640 | MONDO:equivalentTo | anauxetic dysplasia 1 | | MONDO:0011773|MONDO:0006025 | -| MONDO:0957517 | congenital disorder of glycosylation type iie | DOID:0070257 | MONDO:equivalentTo | congenital disorder of glycosylation type IIe | | MONDO:0005501|MONDO:0006025 | -| MONDO:0957518 | orofacial cleft 7 | DOID:0080400 | MONDO:equivalentTo | orofacial cleft 7 | | MONDO:0006025|MONDO:0000358 | -| MONDO:0957519 | diffuse gastric cancer | DOID:0080763 | MONDO:equivalentTo | diffuse gastric cancer | A stomach cancer that is characterized by development of diffuse (signet ring cell) gastric cancer underneath the stomach lining. | MONDO:0001056 | -| MONDO:0957520 | disabling pansclerotic morphea | DOID:0081373 | MONDO:equivalentTo | disabling pansclerotic morphea | A localized scleroderma that is characterized by the rapid progression of deep cutaneous fibrosis or pansclerosis that involves the subcutaneous adipose tissue and, occasionally, the fascia, muscles, and bone. | MONDO:0019562 | -| MONDO:0957521 | nemaline myopathy 5b | DOID:0081374 | MONDO:equivalentTo | nemaline myopathy 5B | A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13, with childhood onset. | MONDO:0018958|MONDO:0006025 | -| MONDO:0957522 | nemaline myopathy 5c | DOID:0081375 | MONDO:equivalentTo | nemaline myopathy 5C | A nemaline myopathy that has_material_basis_in autosomal dominant inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13. | MONDO:0018958|MONDO:0000426 | -| MONDO:0957523 | sorbitol dehydrogenase deficiency with peripheral neuropathy | DOID:0081376 | MONDO:equivalentTo | sorbitol dehydrogenase deficiency with peripheral neuropathy | A neuromuscular disease that is characterized by onset of distal muscle weakness mainly affecting the lower limbs and resulting in difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SORD gene on chromosome 15q21. | MONDO:0019056|MONDO:0006025 | -| MONDO:0957524 | cox deficiency, benign infantile mitochondrial myopathy | DOID:0081377 | MONDO:equivalentTo | COX deficiency, benign infantile mitochondrial myopathy | A cytochrome-c oxidase deficiency disease characterized by localization to tissues of the skeletal muscles. | MONDO:0009068 | -| MONDO:0957525 | kyphosis | DOID:4667 | MONDO:equivalentTo | kyphosis | | MONDO:0000836|MONDO:0000812 | -| MONDO:0957558 | li-fraumeni syndrome 1 | DOID:0111503 | MONDO:equivalentTo | Li-Fraumeni syndrome 1 | | MONDO:0018875 | -| MONDO:0957605 | spinocerebellar ataxia with axonal neuropathy type 3 | DOID:0070465 | MONDO:equivalentTo | spinocerebellar ataxia with axonal neuropathy type 3 | | MONDO:0015244 | -| MONDO:0957606 | yoon-bellen neurodevelopmental syndrome | DOID:0070468 | MONDO:equivalentTo | Yoon-Bellen neurodevelopmental syndrome | | MONDO:0002254|MONDO:0006025 | -| MONDO:0957607 | neurodevelopmental disorder with dysmorphic facies and thin corpus callosum | DOID:0070469 | MONDO:equivalentTo | neurodevelopmental disorder with dysmorphic facies and thin corpus callosum | | MONDO:0015802 | -| MONDO:0957608 | early-onset epilepsy 2 | DOID:0070471 | MONDO:equivalentTo | early-onset epilepsy 2 | | MONDO:0005027|MONDO:0000426 | -| MONDO:0957609 | early-onset epilepsy 3 | DOID:0070472 | MONDO:equivalentTo | early-onset epilepsy 3 | | MONDO:0005027|MONDO:0000426 | -| MONDO:0957610 | renal medullary carcinoma | DOID:0070475 | MONDO:equivalentTo | renal medullary carcinoma | | MONDO:0005086 | -| MONDO:0957611 | diphthamide deficiency syndrome | DOID:0070476 | MONDO:equivalentTo | diphthamide deficiency syndrome | | MONDO:0006025|MONDO:0004736 | -| MONDO:0957612 | schwannomatosis 1 | DOID:0070480 | MONDO:equivalentTo | schwannomatosis 1 | | MONDO:0008075 | -| MONDO:0957613 | schwannomatosis 2 | DOID:0070481 | MONDO:equivalentTo | schwannomatosis 2 | | MONDO:0008075 | -| MONDO:0957614 | spinal neurofibromatosis | DOID:0070482 | MONDO:equivalentTo | spinal neurofibromatosis | | MONDO:0018975 | -| MONDO:0957615 | watson syndrome | DOID:0070483 | MONDO:equivalentTo | Watson syndrome | | MONDO:0021060|MONDO:0000426 | -| MONDO:0957616 | legius syndrome | DOID:0070484 | MONDO:equivalentTo | Legius syndrome | | MONDO:0021060|MONDO:0000426 | -| MONDO:0957617 | amyotrophic lateral sclerosis type 24 | DOID:0081378 | MONDO:equivalentTo | amyotrophic lateral sclerosis type 24 | An amyotrophic lateral sclerosis that is characterized by adult-onset loss of motor neurons and that has_material_basis_in heterozygous mutation in the NEK1 gene on chromosome 4q33. | MONDO:0004976|MONDO:0000426 | -| MONDO:0957618 | amyotrophic lateral sclerosis type 25 | DOID:0081379 | MONDO:equivalentTo | amyotrophic lateral sclerosis type 25 | An amyotrophic lateral sclerosis that is characterized by rapidly progressive muscle weakness and death due to respiratory failure and that has_material_basis_in heterozygous mutation in the KIF5A gene on chromosome 12q13. ALS25 may have a lower median age at onset (46.5 years) and longer median survival (10 years) than that found in epidemiologic studies (62.5 years and 20 to 30 months, respectively). | MONDO:0004976|MONDO:0000426 | -| MONDO:0957619 | amyotrophic lateral sclerosis type 26 | DOID:0081380 | MONDO:equivalentTo | amyotrophic lateral sclerosis type 26 | An amyotrophic lateral sclerosis that is characterized by adult onset of upper and low motor neuron disease causing bulbar dysfunction and limb weakness and that has_material_basis_in heterozygous mutation in the TIA1 gene on chromosome 2p13. | MONDO:0004976|MONDO:0000426 | -| MONDO:0957620 | juvenile amyotrophic lateral sclerosis type 27 | DOID:0081381 | MONDO:equivalentTo | juvenile amyotrophic lateral sclerosis type 27 | An amyotrophic lateral sclerosis that is characterized by early childhood-onset lower extremity spasticity manifesting as toe walking and gait abnormalities, followed by progressive lower motor neuron-mediated weakness without sensory signs or symptoms and that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22. | MONDO:0004976|MONDO:0000426 | -| MONDO:0957621 | amyotrophic lateral sclerosis type 28 | DOID:0081382 | MONDO:equivalentTo | amyotrophic lateral sclerosis type 28 | An amyotrophic lateral sclerosis that is characterized by adult onset of slowly progressive limb muscle weakness and atrophy resulting in gait difficulties, loss of ambulation, and distal upper limb weakness and that has_material_basis_in a heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region of the LRP12 gene on chromosome 8q22. | MONDO:0004976|MONDO:0000426 | -| MONDO:0957847 | sotos syndrome 1 | DOID:0112103 | MONDO:equivalentTo | Sotos syndrome 1 | | MONDO:0019349|MONDO:0000426 | -| MONDO:0957848 | epstein-barr virus infectious disease | DOID:2938 | MONDO:equivalentTo | Epstein-Barr virus infectious disease | | MONDO:0005108 | \ No newline at end of file +| mondo_id | mondo_label | xref | xref_source | original_label | definition | parents | +|:--------------|:---------------------------------------------------------------------------------------------------|:---------------------|:---------------------------|:---------------------------------------------------------------------------------------------------|:---------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------|:----------------------------------------------------------------------| +| ID | LABEL | A oboInOwl:hasDbXref | >A oboInOwl:source SPLIT=| | | A IAO:0000115 | SC % | +| MONDO:0956962 | benign teratoma | DOID:0080602 | MONDO:equivalentTo | benign teratoma | A germ cell benign neoplasm that derives_from mature tissue elements or a limited amount of immature tissue elements. | MONDO:0850144 | +| MONDO:0956964 | medulloblastoma shh activated and tp53 mutant | DOID:0080704 | MONDO:equivalentTo | medulloblastoma SHH activated and TP53 mutant | A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the presence of TP53 mutations. | MONDO:0850197 | +| MONDO:0956965 | medulloblastoma shh activated and tp53 wild-type | DOID:0080705 | MONDO:equivalentTo | medulloblastoma SHH activated and TP53 wild-type | A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the absence of TP53 mutations. | MONDO:0850197 | +| MONDO:0956966 | medulloblastoma non-wnt/non-shh group 3 | DOID:0080707 | MONDO:equivalentTo | medulloblastoma non-WNT/non-SHH group 3 | A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by absent TP53 mutations and MYC amplifications that may be present. | MONDO:0850198 | +| MONDO:0956967 | medulloblastoma non-wnt/non-shh group 4 | DOID:0080708 | MONDO:equivalentTo | medulloblastoma non-WNT/non-SHH group 4 | A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by the absence of MYC amplifications and TP53 mutations, while chromosome 17 abnormalities may be present. | MONDO:0850198 | +| MONDO:0956968 | gene duplication disease | DOID:0080712 | MONDO:equivalentTo | gene duplication disease | A monogenic disease that is the result of a mutation that involves the production of one or more copies of a gene. | MONDO:0000275 | +| MONDO:0956969 | chronic inducible urticaria | DOID:0080748 | MONDO:equivalentTo | chronic inducible urticaria | A chronic urticaria that is characterized by a history of a consistent stimulus that initiates lesions, which are typically short-lived and fleeting, lasting a few minutes up to 2 hours. | MONDO:0850230 | +| MONDO:0956970 | chronic spontaneous urticaria | DOID:0080749 | MONDO:equivalentTo | chronic spontaneous urticaria | A chronic urticaria that is characterized by urticaria independent of any exogenous stimulus. | MONDO:0850230 | +| MONDO:0956971 | intermittent asthma | DOID:0080812 | MONDO:equivalentTo | intermittent asthma | A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control two or fewer days per week and no interference with normal activity. | MONDO:0850282 | +| MONDO:0956972 | persistent mild asthma | DOID:0080813 | MONDO:equivalentTo | persistent mild asthma | A chronic asthma that is characterized by severity with symptoms two or more days per week, nighttime awakenings three to four times per month, use of short-acting beta agonist for symptom control two or more days per week and minor limitation of normal activity. | MONDO:0850282 | +| MONDO:0956973 | persistent moderate asthma | DOID:0080814 | MONDO:equivalentTo | persistent moderate asthma | A chronic asthma that is characterized by severity with daily symptoms, nighttime awakenings more than once per week, daily use of short-acting beta agonist for symptom control and some limitation of normal activity. | MONDO:0850282 | +| MONDO:0956974 | adult-onset severe asthma | DOID:0080816 | MONDO:equivalentTo | adult-onset severe asthma | A chronic asthma that is characterized by first presentation in adulthood. | MONDO:0850282 | +| MONDO:0956975 | t2-high asthma | DOID:0080817 | MONDO:equivalentTo | T2-high asthma | A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of early-onset allergic asthma, late-onset eosinophilic asthma, and aspirin-exacerbated respiratory disease. | MONDO:0850282 | +| MONDO:0956976 | t2-low asthma | DOID:0080818 | MONDO:equivalentTo | T2-low asthma | A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of non-atopic, smoking, obesity related, and elderly and that is characterized by neutrophilic (sputum neutrophils > 40–60%) or paucigranulocytic (i.e., normal sputum levels of both eosinophils and neutrophils) inflammation and a lack of response to corticosteroid therapy. | MONDO:0850282 | +| MONDO:0956977 | near-fatal asthma | DOID:0080823 | MONDO:equivalentTo | near-fatal asthma | An acute asthma that is characterized by a respiratory arrest or arterial carbon dioxide tension greater than 50 mmHg, with or without altered consciousness, requiring mechanical ventilation. | MONDO:0850283 | +| MONDO:0956978 | persistent severe asthma | DOID:0080824 | MONDO:equivalentTo | persistent severe asthma | A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control several times per day and extremely limited normal activity. | MONDO:0850282 | +| MONDO:0956979 | nocturnal asthma | DOID:0080826 | MONDO:equivalentTo | nocturnal asthma | A chronic asthma that is characterized by significant decline in pulmonary function and increase of airway inflammation at night. During sleep, recumbent posture causes a reduction in the lung volumes, respiratory muscle tone, and lung compliance. The overnight physiological abnormalities include: increased airway inflammation and decreased steroid responsiveness, increased pulmonary capillary blood volume, functional differences in blood/air volume ratios and mechanical coupling of the parenchyma to the airways. | MONDO:0850282 | +| MONDO:0956980 | vascular parkinsonism | DOID:0080856 | MONDO:equivalentTo | vascular Parkinsonism | A Parkinsonism that is characterized by postural instability, a broad-based gait with the absence of tremors of vascular origin. | MONDO:0021095 | +| MONDO:0956981 | astrocytoma, idh-mutant, grade 4 | DOID:0080877 | MONDO:equivalentTo | astrocytoma, IDH-mutant, grade 4 | An IDH-mutant anaplastic astrocytoma that is characterized by the presence of necrosis and/or microvascular proliferation or homozygous deletion of CDKN2A and/or CDKN2B genes. The term glioblastoma no longer applies to central nervous system WHO grade 4 IDH-mutant astrocytomas. | MONDO:0850332 | +| MONDO:0956983 | pleomorphic xanthoastrocytoma braf mutant | DOID:0080881 | MONDO:equivalentTo | pleomorphic xanthoastrocytoma BRAF mutant | An anaplastic pleomorphic xanthoastrocytoma that has_material_basis_in BRAF mutations. | MONDO:0850312 | +| MONDO:0956984 | yap1-mamld1 fusion-positive supratentorial ependymoma | DOID:0080891 | MONDO:equivalentTo | YAP1-MAMLD1 fusion-positive supratentorial ependymoma | A supratentorial ependymoma that has_material_basis_in YAP1-MAMLD1 fusion. | MONDO:0850340 | +| MONDO:0956985 | lipofibromatosis-like neural tumor | DOID:0080894 | MONDO:equivalentTo | lipofibromatosis-like neural tumor | A connective tissue cancer that has_material_basis_in LMNA-NTRK1 gene fusion. | MONDO:0002176 | +| MONDO:0956986 | solitary fibrous tumor/hemangiopericytoma | DOID:0080897 | MONDO:equivalentTo | solitary fibrous tumor/hemangiopericytoma | A connective tissue cancer that is characterized as the combination of solitary fibrous tumors and hemangiopericytomas. | MONDO:0002176 | +| MONDO:0956987 | ezb-myc+ diffuse large b-cell lymphoma | DOID:0081070 | MONDO:equivalentTo | EZB-MYC+ diffuse large B-cell lymphoma | An EZB diffuse large B-cell lymphoma that expresses the double hit gene expression signature (DHITsig+) according to gene expression profiling. In addition to the features characteristic of EZB, these cases commonly, but do not always, harbour MYC translocations and DDX3X mutations. | MONDO:0850469 | +| MONDO:0956988 | ezb-myc- diffuse large b-cell lymphoma | DOID:0081071 | MONDO:equivalentTo | EZB-MYC- diffuse large B-cell lymphoma | An EZB diffuse large B-cell lymphoma that does not express the double hit gene expression signature (DHITsig-) according to gene expression profiling. These cases tend to have few MYC translocations or DDX3X mutations. | MONDO:0850469 | +| MONDO:0956989 | cic-rearranged sarcoma | DOID:0081250 | MONDO:equivalentTo | CIC-rearranged sarcoma | An EWSERI-negative small round cell tumor that is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and either DUX4 gene on chromosome 4 or DUX4L gene on chromosome 10. The translocation results in either CIC-DUX4, t(4;19)(q35;q13) or CIC-DUX4L, t(10;19)(q26;q13) fusions. | MONDO:0858921 | +| MONDO:0956990 | supratentorial ependymoma, zfta fusion–positive | DOID:0081252 | MONDO:equivalentTo | supratentorial ependymoma, ZFTA fusion–positive | A suptratentorial ependymoma that is characterized by the presence of a fusion gene involving ZFTA gene. | MONDO:0850340 | +| MONDO:0956991 | supratentorial ependymoma, yap1 fusion–positive | DOID:0081253 | MONDO:equivalentTo | supratentorial ependymoma, YAP1 fusion–positive | A supratentorial ependymoma that is characterized by the presence of a fusion gene involving YAP1 gene. | MONDO:0850340 | +| MONDO:0956992 | posterior fossa group a ependymoma | DOID:0081254 | MONDO:equivalentTo | posterior fossa group A ependymoma | A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns, including CpG island hypermethylation, global DNA hypomethylation, reduction of nuclear H3 p.K28me3 (K27me3) expression, and EZHIP overexpression. | MONDO:0850339 | +| MONDO:0956993 | posterior fossa group b ependymoma | DOID:0081255 | MONDO:equivalentTo | posterior fossa group B ependymoma | A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns including retention of nuclear H3 p.K28me3 (K27me3) expression, absence of CpG island hypermethylation, absence of global DNA hypomethylation, and absence of EZHIP overexpression. | MONDO:0850339 | +| MONDO:0956994 | astrocytoma, idh-mutant, grade 2 | DOID:0081256 | MONDO:equivalentTo | astrocytoma, IDH-mutant, grade 2 | An IDH-mutant anaplastic astrocytoma that is characterized by the presence of well-differentiated fibrillary glial cells diffusely infiltrating the central nervous system. | MONDO:0850332 | +| MONDO:0956995 | astrocytoma, idh-mutant, grade 3 | DOID:0081257 | MONDO:equivalentTo | astrocytoma, IDH-mutant, grade 3 | An IDH-mutant anaplastic astrocytoma that is characterized by the presence of increased mitotic activity and anaplastic features. | MONDO:0850332 | +| MONDO:0956996 | oligodendroglioma, idh-mutant and 1p/19q-codeleted grade 2 | DOID:0081281 | MONDO:equivalentTo | oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2 | An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as a well differentiated tumor lacking anaplastic features (brisk mitotic activity, microvascular proliferation, necrosis). | MONDO:0859592 | +| MONDO:0956997 | oligodendroglioma, idh-mutant and 1p/19q-codeleted, grade 3 | DOID:0081282 | MONDO:equivalentTo | oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3 | An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as grade 3 tumors associated with a more rapid growth. Grade 3 tumors appear to have abnormalities on chromosomes 9 or 10, along with unusual amounts of growth factors and proteins, which are thought to contribute to the more rapid growth of these gliomas. | MONDO:0859592 | +| MONDO:0957118 | bradyopsia 2 | DOID:0070364 | MONDO:equivalentTo | bradyopsia 2 | | MONDO:0012033 | +| MONDO:0957120 | nevoid basal cell carcinoma syndrome 2 | DOID:0070366 | MONDO:equivalentTo | nevoid basal cell carcinoma syndrome 2 | | MONDO:0007187 | +| MONDO:0957121 | leukoencephalopathy with vanishing white matter 5 | DOID:0070367 | MONDO:equivalentTo | leukoencephalopathy with vanishing white matter 5 | | MONDO:0800448 | +| MONDO:0957122 | leukoencephalopathy with vanishing white matter 4 | DOID:0070371 | MONDO:equivalentTo | leukoencephalopathy with vanishing white matter 4 | | MONDO:0800448 | +| MONDO:0957123 | leukoencephalopathy with vanishing white matter 3 | DOID:0070372 | MONDO:equivalentTo | leukoencephalopathy with vanishing white matter 3 | | MONDO:0800448 | +| MONDO:0957124 | leukoencephalopathy with vanishing white matter 2 | DOID:0070373 | MONDO:equivalentTo | leukoencephalopathy with vanishing white matter 2 | | MONDO:0800448 | +| MONDO:0957127 | developmental and epileptic encephalopathy 31b | DOID:0070376 | MONDO:equivalentTo | developmental and epileptic encephalopathy 31B | | MONDO:0100062|MONDO:0006025 | +| MONDO:0957181 | epidermolytic hyperkeratosis 2 | DOID:0081359 | MONDO:equivalentTo | epidermolytic hyperkeratosis 2 | An epidermolytic hyperkeratosis that is characterized by generalized erythema, erosions, scaling, and easily breaking blisters that become less frequent later in life, while hyperkeratosis increases and that has_material_basis_in heterozygous or homozygous mutation in the keratin-10 gene (KRT10) on chromosome 17q21. | MONDO:0007239 | +| MONDO:0957195 | digenic disease | DOID:0080578 | MONDO:equivalentTo | digenic disease | | | +| MONDO:0957196 | diffuse midline glioma, h3 k27m-mutant | DOID:0080684 | MONDO:equivalentTo | diffuse midline glioma, H3 K27M-mutant | A histone mutated tumor that is characterized by the presence of histone H3 K27M mutation located throughout the midline structures of the central nervous system. | | +| MONDO:0957197 | diffuse glioma, h3 g34 mutant | DOID:0080880 | MONDO:equivalentTo | diffuse glioma, H3 G34 mutant | A histone mutated tumor that has_material_basis_in mutations in codon 34 of the H3 histone family 3A protein. | | +| MONDO:0957327 | congenital myopathy 20 | DOID:0081352 | MONDO:equivalentTo | congenital myopathy 20 | A congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the RYR3 gene on chromosome 15q13 and that shows wide phenotypic variability. Some patients present in early childhood with proximal muscle weakness affecting the lower and upper limbs resulting in difficulties running and climbing, whereas others present soon after birth with congenital limb or distal contractures. | MONDO:0019952|MONDO:0006025 | +| MONDO:0957328 | congenital myopathy 21 | DOID:0081353 | MONDO:equivalentTo | congenital myopathy 21 | A congenital myopathy that is characterized by diaphragmatic weakness and spinal rigidity and that has_material_basis_in homozygous mutation in the DNAJB4 gene on chromosome 1p31. | MONDO:0019952|MONDO:0006025 | +| MONDO:0957329 | congenital myopathy 22a | DOID:0081354 | MONDO:equivalentTo | congenital myopathy 22A | A congenital myopathy that is characterized by onset of muscle weakness in utero or soon after birth and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23. Biallelic mutation in the SCN4A gene also causes severe fetal congenital myopathy 22B. | MONDO:0019952|MONDO:0006025 | +| MONDO:0957330 | congenital myopathy 22b | DOID:0081355 | MONDO:equivalentTo | congenital myopathy 22B | A congenital myopathy that is characterized by in utero onset of severe muscle weakness manifest as fetal akinesia and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23. | MONDO:0019952|MONDO:0006025 | +| MONDO:0957353 | progressive leukoencephalopathy with ovarian failure | DOID:0070396 | MONDO:equivalentTo | progressive leukoencephalopathy with ovarian failure | | MONDO:0019046|MONDO:0006025 | +| MONDO:0957354 | combined oxidative phosphorylation deficiency 44 | DOID:0070424 | MONDO:equivalentTo | combined oxidative phosphorylation deficiency 44 | | MONDO:0006025|MONDO:0000732 | +| MONDO:0957355 | combined oxidative phosphorylation deficiency 52 | DOID:0070425 | MONDO:equivalentTo | combined oxidative phosphorylation deficiency 52 | | MONDO:0000732|MONDO:0006025 | +| MONDO:0957356 | combined oxidative phosphorylation deficiency 53 | DOID:0070426 | MONDO:equivalentTo | combined oxidative phosphorylation deficiency 53 | | MONDO:0000732|MONDO:0006025 | +| MONDO:0957357 | combined oxidative phosphorylation deficiency 54 | DOID:0070427 | MONDO:equivalentTo | combined oxidative phosphorylation deficiency 54 | | MONDO:0000732|MONDO:0006025 | +| MONDO:0957358 | combined oxidative phosphorylation deficiency 55 | DOID:0070428 | MONDO:equivalentTo | combined oxidative phosphorylation deficiency 55 | | MONDO:0000732|MONDO:0000429 | +| MONDO:0957359 | combined oxidative phosphorylation deficiency 56 | DOID:0070429 | MONDO:equivalentTo | combined oxidative phosphorylation deficiency 56 | | MONDO:0000732|MONDO:0006025 | +| MONDO:0957360 | combined oxidative phosphorylation deficiency 57 | DOID:0070430 | MONDO:equivalentTo | combined oxidative phosphorylation deficiency 57 | | MONDO:0000732|MONDO:0006025 | +| MONDO:0957361 | hyperphosphatasia with impaired intellectual development syndrome | DOID:0070431 | MONDO:equivalentTo | hyperphosphatasia with impaired intellectual development syndrome | | MONDO:0019502 | +| MONDO:0957362 | retinal macular dystrophy | DOID:0070438 | MONDO:equivalentTo | retinal macular dystrophy | | MONDO:0003004|MONDO:0000426 | +| MONDO:0957363 | paroxysmal nonkinesigenic dyskinesia 3 | DOID:0070442 | MONDO:equivalentTo | paroxysmal nonkinesigenic dyskinesia 3 | | MONDO:0003441|MONDO:0000426 | +| MONDO:0957364 | neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | DOID:0070443 | MONDO:equivalentTo | neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | | MONDO:0019502 | +| MONDO:0957365 | neurodevelopmental disorder with language delay and seizures | DOID:0070444 | MONDO:equivalentTo | neurodevelopmental disorder with language delay and seizures | | MONDO:0019502 | +| MONDO:0957366 | early-onset dystonia and/or spastic paraplegia | DOID:0070445 | MONDO:equivalentTo | early-onset dystonia and/or spastic paraplegia | | MONDO:0003441|MONDO:0000426 | +| MONDO:0957367 | mitochondrial dna depletion syndrome 16 | DOID:0070446 | MONDO:equivalentTo | mitochondrial DNA depletion syndrome 16 | | MONDO:0018158|MONDO:0006025 | +| MONDO:0957368 | mitochondrial dna depletion syndrome 16b | DOID:0070447 | MONDO:equivalentTo | mitochondrial DNA depletion syndrome 16B | | MONDO:0018158|MONDO:0006025 | +| MONDO:0957369 | mitochondrial dna depletion syndrome 17 | DOID:0070448 | MONDO:equivalentTo | mitochondrial DNA depletion syndrome 17 | | MONDO:0018158|MONDO:0006025 | +| MONDO:0957370 | mitochondrial dna depletion syndrome 18 | DOID:0070449 | MONDO:equivalentTo | mitochondrial DNA depletion syndrome 18 | | MONDO:0018158|MONDO:0006025 | +| MONDO:0957371 | mitochondrial dna depletion syndrome 19 | DOID:0070450 | MONDO:equivalentTo | mitochondrial DNA depletion syndrome 19 | | MONDO:0018158|MONDO:0006025 | +| MONDO:0957372 | mitochondrial dna depletion syndrome 20 | DOID:0070451 | MONDO:equivalentTo | mitochondrial DNA depletion syndrome 20 | | MONDO:0018158|MONDO:0006025 | +| MONDO:0957378 | ladd syndrome | DOID:0081370 | MONDO:equivalentTo | LADD syndrome | A syndrome that is characterized by defects in the tear-producing lacrimal system, ear problems, dental abnormalities, and deformities of the fingers. | MONDO:0002254 | +| MONDO:0957500 | xanthinuria type i | DOID:0070452 | MONDO:equivalentTo | xanthinuria type I | | MONDO:0018106 | +| MONDO:0957501 | xanthinuria type ii | DOID:0070453 | MONDO:equivalentTo | xanthinuria type II | | MONDO:0018106 | +| MONDO:0957502 | hereditary spastic paraplegia 70 | DOID:0070454 | MONDO:equivalentTo | hereditary spastic paraplegia 70 | | MONDO:0019064|MONDO:0006025 | +| MONDO:0957503 | hereditary spastic paraplegia 79a | DOID:0070455 | MONDO:equivalentTo | hereditary spastic paraplegia 79A | | MONDO:0019064|MONDO:0000426 | +| MONDO:0957504 | hereditary spastic paraplegia 87 | DOID:0070456 | MONDO:equivalentTo | hereditary spastic paraplegia 87 | | MONDO:0019064|MONDO:0006025 | +| MONDO:0957505 | hereditary spastic paraplegia 88 | DOID:0070457 | MONDO:equivalentTo | hereditary spastic paraplegia 88 | | MONDO:0019064|MONDO:0000426 | +| MONDO:0957506 | hereditary spastic paraplegia 89 | DOID:0070458 | MONDO:equivalentTo | hereditary spastic paraplegia 89 | | MONDO:0019064|MONDO:0006025 | +| MONDO:0957507 | hereditary spastic paraplegia 90a | DOID:0070459 | MONDO:equivalentTo | hereditary spastic paraplegia 90A | | MONDO:0019064|MONDO:0000426 | +| MONDO:0957508 | hereditary spastic paraplegia 90b | DOID:0070460 | MONDO:equivalentTo | hereditary spastic paraplegia 90B | | MONDO:0019064|MONDO:0000426 | +| MONDO:0957509 | mitochondrial complex v (atp synthase) deficiency nuclear type 4a | DOID:0070461 | MONDO:equivalentTo | mitochondrial complex V (ATP synthase) deficiency nuclear type 4A | | MONDO:0014091|MONDO:0000426 | +| MONDO:0957510 | mitochondrial complex v (atp synthase) deficiency nuclear type 4b | DOID:0070462 | MONDO:equivalentTo | mitochondrial complex V (ATP synthase) deficiency nuclear type 4B | | MONDO:0014091|MONDO:0006025 | +| MONDO:0957511 | mitochondrial complex v (atp synthase) deficiency nuclear type 5 | DOID:0070463 | MONDO:equivalentTo | mitochondrial complex V (ATP synthase) deficiency nuclear type 5 | | MONDO:0014471|MONDO:0006025 | +| MONDO:0957512 | mitochondrial complex v (atp synthase) deficiency nuclear type 7 | DOID:0070464 | MONDO:equivalentTo | mitochondrial complex V (ATP synthase) deficiency nuclear type 7 | | MONDO:0014471|MONDO:0006025 | +| MONDO:0957513 | carpal tunnel syndrome 1 | DOID:0070466 | MONDO:equivalentTo | carpal tunnel syndrome 1 | | MONDO:0007275|MONDO:0000426 | +| MONDO:0957514 | carpal tunnel syndrome 2 | DOID:0070467 | MONDO:equivalentTo | carpal tunnel syndrome 2 | | MONDO:0007275|MONDO:0000426 | +| MONDO:0957516 | anauxetic dysplasia 1 | DOID:0050640 | MONDO:equivalentTo | anauxetic dysplasia 1 | | MONDO:0011773|MONDO:0006025 | +| MONDO:0957517 | congenital disorder of glycosylation type iie | DOID:0070257 | MONDO:equivalentTo | congenital disorder of glycosylation type IIe | | MONDO:0005501|MONDO:0006025 | +| MONDO:0957518 | orofacial cleft 7 | DOID:0080400 | MONDO:equivalentTo | orofacial cleft 7 | | MONDO:0006025|MONDO:0000358 | +| MONDO:0957519 | diffuse gastric cancer | DOID:0080763 | MONDO:equivalentTo | diffuse gastric cancer | A stomach cancer that is characterized by development of diffuse (signet ring cell) gastric cancer underneath the stomach lining. | MONDO:0001056 | +| MONDO:0957520 | disabling pansclerotic morphea | DOID:0081373 | MONDO:equivalentTo | disabling pansclerotic morphea | A localized scleroderma that is characterized by the rapid progression of deep cutaneous fibrosis or pansclerosis that involves the subcutaneous adipose tissue and, occasionally, the fascia, muscles, and bone. | MONDO:0019562 | +| MONDO:0957521 | nemaline myopathy 5b | DOID:0081374 | MONDO:equivalentTo | nemaline myopathy 5B | A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13, with childhood onset. | MONDO:0018958|MONDO:0006025 | +| MONDO:0957522 | nemaline myopathy 5c | DOID:0081375 | MONDO:equivalentTo | nemaline myopathy 5C | A nemaline myopathy that has_material_basis_in autosomal dominant inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13. | MONDO:0018958|MONDO:0000426 | +| MONDO:0957523 | sorbitol dehydrogenase deficiency with peripheral neuropathy | DOID:0081376 | MONDO:equivalentTo | sorbitol dehydrogenase deficiency with peripheral neuropathy | A neuromuscular disease that is characterized by onset of distal muscle weakness mainly affecting the lower limbs and resulting in difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SORD gene on chromosome 15q21. | MONDO:0019056|MONDO:0006025 | +| MONDO:0957524 | cox deficiency, benign infantile mitochondrial myopathy | DOID:0081377 | MONDO:equivalentTo | COX deficiency, benign infantile mitochondrial myopathy | A cytochrome-c oxidase deficiency disease characterized by localization to tissues of the skeletal muscles. | MONDO:0009068 | +| MONDO:0957525 | kyphosis | DOID:4667 | MONDO:equivalentTo | kyphosis | | MONDO:0000836|MONDO:0000812 | +| MONDO:0957558 | li-fraumeni syndrome 1 | DOID:0111503 | MONDO:equivalentTo | Li-Fraumeni syndrome 1 | | MONDO:0018875 | +| MONDO:0957605 | spinocerebellar ataxia with axonal neuropathy type 3 | DOID:0070465 | MONDO:equivalentTo | spinocerebellar ataxia with axonal neuropathy type 3 | | MONDO:0015244 | +| MONDO:0957606 | yoon-bellen neurodevelopmental syndrome | DOID:0070468 | MONDO:equivalentTo | Yoon-Bellen neurodevelopmental syndrome | | MONDO:0002254|MONDO:0006025 | +| MONDO:0957607 | neurodevelopmental disorder with dysmorphic facies and thin corpus callosum | DOID:0070469 | MONDO:equivalentTo | neurodevelopmental disorder with dysmorphic facies and thin corpus callosum | | MONDO:0015802 | +| MONDO:0957608 | early-onset epilepsy 2 | DOID:0070471 | MONDO:equivalentTo | early-onset epilepsy 2 | | MONDO:0005027|MONDO:0000426 | +| MONDO:0957609 | early-onset epilepsy 3 | DOID:0070472 | MONDO:equivalentTo | early-onset epilepsy 3 | | MONDO:0005027|MONDO:0000426 | +| MONDO:0957610 | renal medullary carcinoma | DOID:0070475 | MONDO:equivalentTo | renal medullary carcinoma | | MONDO:0005086 | +| MONDO:0957611 | diphthamide deficiency syndrome | DOID:0070476 | MONDO:equivalentTo | diphthamide deficiency syndrome | | MONDO:0006025|MONDO:0004736 | +| MONDO:0957612 | schwannomatosis 1 | DOID:0070480 | MONDO:equivalentTo | schwannomatosis 1 | | MONDO:0008075 | +| MONDO:0957613 | schwannomatosis 2 | DOID:0070481 | MONDO:equivalentTo | schwannomatosis 2 | | MONDO:0008075 | +| MONDO:0957614 | spinal neurofibromatosis | DOID:0070482 | MONDO:equivalentTo | spinal neurofibromatosis | | MONDO:0018975 | +| MONDO:0957615 | watson syndrome | DOID:0070483 | MONDO:equivalentTo | Watson syndrome | | MONDO:0021060|MONDO:0000426 | +| MONDO:0957616 | legius syndrome | DOID:0070484 | MONDO:equivalentTo | Legius syndrome | | MONDO:0021060|MONDO:0000426 | +| MONDO:0957617 | amyotrophic lateral sclerosis type 24 | DOID:0081378 | MONDO:equivalentTo | amyotrophic lateral sclerosis type 24 | An amyotrophic lateral sclerosis that is characterized by adult-onset loss of motor neurons and that has_material_basis_in heterozygous mutation in the NEK1 gene on chromosome 4q33. | MONDO:0004976|MONDO:0000426 | +| MONDO:0957618 | amyotrophic lateral sclerosis type 25 | DOID:0081379 | MONDO:equivalentTo | amyotrophic lateral sclerosis type 25 | An amyotrophic lateral sclerosis that is characterized by rapidly progressive muscle weakness and death due to respiratory failure and that has_material_basis_in heterozygous mutation in the KIF5A gene on chromosome 12q13. ALS25 may have a lower median age at onset (46.5 years) and longer median survival (10 years) than that found in epidemiologic studies (62.5 years and 20 to 30 months, respectively). | MONDO:0004976|MONDO:0000426 | +| MONDO:0957619 | amyotrophic lateral sclerosis type 26 | DOID:0081380 | MONDO:equivalentTo | amyotrophic lateral sclerosis type 26 | An amyotrophic lateral sclerosis that is characterized by adult onset of upper and low motor neuron disease causing bulbar dysfunction and limb weakness and that has_material_basis_in heterozygous mutation in the TIA1 gene on chromosome 2p13. | MONDO:0004976|MONDO:0000426 | +| MONDO:0957620 | juvenile amyotrophic lateral sclerosis type 27 | DOID:0081381 | MONDO:equivalentTo | juvenile amyotrophic lateral sclerosis type 27 | An amyotrophic lateral sclerosis that is characterized by early childhood-onset lower extremity spasticity manifesting as toe walking and gait abnormalities, followed by progressive lower motor neuron-mediated weakness without sensory signs or symptoms and that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22. | MONDO:0004976|MONDO:0000426 | +| MONDO:0957621 | amyotrophic lateral sclerosis type 28 | DOID:0081382 | MONDO:equivalentTo | amyotrophic lateral sclerosis type 28 | An amyotrophic lateral sclerosis that is characterized by adult onset of slowly progressive limb muscle weakness and atrophy resulting in gait difficulties, loss of ambulation, and distal upper limb weakness and that has_material_basis_in a heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region of the LRP12 gene on chromosome 8q22. | MONDO:0004976|MONDO:0000426 | +| MONDO:0957847 | sotos syndrome 1 | DOID:0112103 | MONDO:equivalentTo | Sotos syndrome 1 | | MONDO:0019349|MONDO:0000426 | +| MONDO:0957848 | epstein-barr virus infectious disease | DOID:2938 | MONDO:equivalentTo | Epstein-Barr virus infectious disease | | MONDO:0005108 | +| MONDO:0957878 | proteosome-associated autoinflammatory syndrome | DOID:0060913 | MONDO:equivalentTo | proteosome-associated autoinflammatory syndrome | | MONDO:0002254 | +| MONDO:0957879 | otosclerosis 1 | DOID:0060920 | MONDO:equivalentTo | otosclerosis 1 | | MONDO:0005349 | +| MONDO:0957880 | otosclerosis 2 | DOID:0060921 | MONDO:equivalentTo | otosclerosis 2 | | MONDO:0005349 | +| MONDO:0957881 | otosclerosis 3 | DOID:0060922 | MONDO:equivalentTo | otosclerosis 3 | | MONDO:0005349 | +| MONDO:0957882 | otosclerosis 4 | DOID:0060923 | MONDO:equivalentTo | otosclerosis 4 | | MONDO:0005349 | +| MONDO:0957883 | otosclerosis 5 | DOID:0060924 | MONDO:equivalentTo | otosclerosis 5 | | MONDO:0005349 | +| MONDO:0957884 | otosclerosis 7 | DOID:0060925 | MONDO:equivalentTo | otosclerosis 7 | | MONDO:0005349 | +| MONDO:0957885 | otosclerosis 8 | DOID:0060926 | MONDO:equivalentTo | otosclerosis 8 | | MONDO:0005349 | +| MONDO:0957886 | otosclerosis 10 | DOID:0060927 | MONDO:equivalentTo | otosclerosis 10 | | MONDO:0005349 | +| MONDO:0957887 | otosclerosis 11 | DOID:0060928 | MONDO:equivalentTo | otosclerosis 11 | | MONDO:0005349 | +| MONDO:0957888 | non-syndromic x-linked intellectual developmental disorder 111 | DOID:0060929 | MONDO:equivalentTo | non-syndromic X-linked intellectual developmental disorder 111 | | MONDO:0019181 | +| MONDO:0957889 | chromosome 1p36.33 duplication syndrome | DOID:0070470 | MONDO:equivalentTo | chromosome 1p36.33 duplication syndrome | | MONDO:0000426|MONDO:0000762 | +| MONDO:0957890 | zaki syndrome | DOID:0070473 | MONDO:equivalentTo | Zaki syndrome | | MONDO:0002254|MONDO:0006025 | +| MONDO:0957891 | childhood-onset neurodegeneration with brain atrophy | DOID:0070474 | MONDO:equivalentTo | childhood-onset neurodegeneration with brain atrophy | | MONDO:0000426|MONDO:0005559 | +| MONDO:0957892 | mitochondrial complex iv deficiency nuclear type 23 | DOID:0070485 | MONDO:equivalentTo | mitochondrial complex IV deficiency nuclear type 23 | | MONDO:0009068|MONDO:0006025 | +| MONDO:0957893 | parkinson's disease 25 | DOID:0070486 | MONDO:equivalentTo | Parkinson's disease 25 | | MONDO:0017279|MONDO:0006025 | +| MONDO:0957894 | dopamine transporter deficiency syndrome | DOID:0070487 | MONDO:equivalentTo | dopamine transporter deficiency syndrome | | MONDO:0005395|MONDO:0000429 | +| MONDO:0957895 | infantile parkinsonism-dystonia 2 | DOID:0070490 | MONDO:equivalentTo | infantile parkinsonism-dystonia 2 | | MONDO:0005395|MONDO:0006025 | +| MONDO:0957896 | metabolic dysfunction and alcohol associated liver disease | DOID:0070508 | MONDO:equivalentTo | metabolic dysfunction and alcohol associated liver disease | | MONDO:0004790 | +| MONDO:0957897 | schinzel giedion syndrome | DOID:0070509 | MONDO:equivalentTo | Schinzel Giedion syndrome | | MONDO:0000426|MONDO:0019287 | +| MONDO:0957898 | inflammatory poikiloderma with hair abnormalities and acral keratoses | DOID:0070510 | MONDO:equivalentTo | inflammatory poikiloderma with hair abnormalities and acral keratoses | | MONDO:0006025|MONDO:0005093 | +| MONDO:0957899 | polyhydramnios, megalencephaly, and symptomatic epilepsy | DOID:0070511 | MONDO:equivalentTo | polyhydramnios, megalencephaly, and symptomatic epilepsy | | MONDO:0006025|MONDO:0002254 | +| MONDO:0957900 | neurodevelopmental disorder with hypotonia and speech delay | DOID:0070512 | MONDO:equivalentTo | neurodevelopmental disorder with hypotonia and speech delay | | MONDO:0002254|MONDO:0000429 | +| MONDO:0957901 | neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities | DOID:0070513 | MONDO:equivalentTo | neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities | | MONDO:0015802 | +| MONDO:0957902 | neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | DOID:0070514 | MONDO:equivalentTo | neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | | MONDO:0015802 | +| MONDO:0957903 | chromosome 16p11.2 deletion syndrome, 593-kb | DOID:0070515 | MONDO:equivalentTo | chromosome 16p11.2 deletion syndrome, 593-kb | | MONDO:0000761 | +| MONDO:0957904 | mitchell syndrome | DOID:0070516 | MONDO:equivalentTo | Mitchell syndrome | | MONDO:0019053|MONDO:0000426 | +| MONDO:0957905 | ataxia-oculomotor apraxia type 4 | DOID:0081383 | MONDO:equivalentTo | ataxia-oculomotor apraxia type 4 | An autosomal recessive cerebellar ataxia that is characterized by onset of dystonia and ataxia in the first decade and that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13. | MONDO:0015244 | +| MONDO:0957906 | ataxia-telangiectasia-like disorder-1 | DOID:0081384 | MONDO:equivalentTo | ataxia-telangiectasia-like disorder-1 | An autosomal recessive cerebellar ataxia that is characterized clinically by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia and that has_material_basis_in homozygous or compound heterozygous mutation in the MRE11A gene (MRE11) on chromosome 11q21. | MONDO:0015244 | +| MONDO:0957907 | ataxia-telangiectasia-like disorder-2 | DOID:0081385 | MONDO:equivalentTo | ataxia-telangiectasia-like disorder-2 | An autosomal recessive cerebellar ataxia that is characterized by developmental delay, ataxia, and sensorineural hearing loss and that has_material_basis_in homozygous mutation in the PCNA gene on chromosome 20p12. | MONDO:0015244 | +| MONDO:0957908 | tango2-related metabolic encephalopathy and arrythmias | DOID:0081386 | MONDO:equivalentTo | TANGO2-related metabolic encephalopathy and arrythmias | A syndrome that is characterized by episodic metabolic degeneration affecting skeletal muscle, cardiac muscle, and the nervous system and that has_material_basis_in homozygous or compound heterozygous mutation in the TANGO2 gene on chromosome 22q11. | MONDO:0002254|MONDO:0006025 | +| MONDO:0957909 | neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities | DOID:0081387 | MONDO:equivalentTo | neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities | An autosomal recessive intellectual developmental disorder that is characterized by the onset of features in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the INTS11 gene on chromosome 1p36. | MONDO:0019502 | +| MONDO:0957910 | primary progressive aphasia | DOID:0081388 | MONDO:equivalentTo | primary progressive aphasia | A frontotemporal dementia that characterized by the progressive onset of language impairments, and gradual deterioration of these abilities over time, associated with atrophy of the language network of the brain, including frontal, temporal, and parietal regions of the left hemisphere. It is caused by a loss of tissue (atrophy) in the area of the brain that is responsible for producing language. | MONDO:0017276 | +| MONDO:0957911 | corticobasal degeneration syndrome | DOID:0081392 | MONDO:equivalentTo | corticobasal degeneration syndrome | A frontotemporal dementia that characterized by the loss of cognitive functions such as the ability to think, remember, or reason to the point that it interferes with a person's daily life and activities. | MONDO:0017276 | +| MONDO:0957912 | organophosphate-induced delayed polyneuropathy | DOID:0081393 | MONDO:equivalentTo | organophosphate-induced delayed polyneuropathy | An inflammatory and toxic neuropathy that is characaterized by a collection of neuropsychological symptoms associated with repeated organophosphate pesticide exposure as well as nerve agent exposure. Symptoms can appear weeks after exposure and include muscle weakness, anxiety, depression, psychosis as well as cognitive and memory deficits. | MONDO:0002336 | +| MONDO:0957913 | caroli syndrome | DOID:0081394 | MONDO:equivalentTo | Caroli syndrome | A syndrome that is characterized by the presence of associated congenital hepatic fibrosis and that is associated with autosomal recessive polycystic kidney disease. | MONDO:0004634|MONDO:0002887|MONDO:0002405|MONDO:0002254|MONDO:0006025 | +| MONDO:0957914 | harel-yoon syndrome | DOID:0081395 | MONDO:equivalentTo | Harel-Yoon syndrome | A syndrome that is characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy and that has_material_basis_in heterozygous mutation in the ATAD3A gene on chromosome 1p36. | MONDO:0006025|MONDO:0000426|MONDO:0002254 | +| MONDO:0957915 | neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome | DOID:0081396 | MONDO:equivalentTo | neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome | A syndrome that is characterized in infants showing respiratory insufficiency and almost no spontaneous movement at birth, usually requiring mechanical ventilation and admission to the neonatal intensive care unit and that has_material_basis_in compound heterozygous mutation in the ATAD3A gene on chromosome 1p36.33. | MONDO:0002254|MONDO:0006025 | +| MONDO:0957916 | vissers-bodmer syndrome | DOID:0081397 | MONDO:equivalentTo | Vissers-Bodmer syndrome | A syndrome that is characterized by global developmental delay with variably impaired intellectual development, speech delay, motor delay, and behavioral abnormalities apparent from infancy and that has_material_basis_in heterozygous mutation in the CNOT1 gene on chromosome 16q21. | MONDO:0002254|MONDO:0000426 | +| MONDO:0957917 | holoprosencephaly 12 | DOID:0081398 | MONDO:equivalentTo | holoprosencephaly 12 | A holoprosencephaly that is characterized by abnormal separation of the embryonic forebrain resulting in dysmorphic facial features and often, but not always, impaired neurologic development and that has_material_basis_in heterozygous mutation in the CNOT1 gene on chromosome 16q21. | MONDO:0016296|MONDO:0000426 | \ No newline at end of file diff --git a/docs/reports/migrate_ncit.md b/docs/reports/migrate_ncit.md index 24abe7d7..25136320 100644 --- a/docs/reports/migrate_ncit.md +++ b/docs/reports/migrate_ncit.md @@ -409,7 +409,6 @@ | MONDO:0854795 | early stage pancreatic ductal adenocarcinoma | NCIT:C158961 | MONDO:equivalentTo | Early Stage Pancreatic Ductal Adenocarcinoma | | MONDO:0005184 | | MONDO:0854803 | kidney rhabdomyosarcoma | NCIT:C159206 | MONDO:equivalentTo | Kidney Rhabdomyosarcoma | | MONDO:0002930|MONDO:0005212 | | MONDO:0854804 | kidney ewing sarcoma | NCIT:C159208 | MONDO:equivalentTo | Kidney Ewing Sarcoma | | MONDO:0018270|MONDO:0002930 | -| MONDO:0854805 | kidney leiomyoma | NCIT:C159209 | MONDO:equivalentTo | Kidney Leiomyoma | | MONDO:0002513|MONDO:0001572 | | MONDO:0854806 | kidney hemangioma | NCIT:C159211 | MONDO:equivalentTo | Kidney Hemangioma | | MONDO:0002513|MONDO:0006500 | | MONDO:0854807 | kidney lymphangioma | NCIT:C159214 | MONDO:equivalentTo | Kidney Lymphangioma | | MONDO:0002013|MONDO:0002513 | | MONDO:0854808 | kidney schwannoma | NCIT:C159221 | MONDO:equivalentTo | Kidney Schwannoma | | MONDO:0002513|MONDO:0004820 | diff --git a/docs/reports/migrate_omim.md b/docs/reports/migrate_omim.md index 53f09319..3e4a772c 100644 --- a/docs/reports/migrate_omim.md +++ b/docs/reports/migrate_omim.md @@ -11,22 +11,19 @@ | MONDO:0957317 | hematuria, benign familial | OMIMPS:141200 | MONDO:equivalentTo | Hematuria, benign familial | | | | MONDO:0957318 | nephrolithiasis, calcium oxalate | OMIMPS:167030 | MONDO:equivalentTo | Nephrolithiasis, calcium oxalate | | | | MONDO:0957319 | pseudohypoaldosteronism, type i | OMIMPS:177735 | MONDO:equivalentTo | Pseudohypoaldosteronism, type I | | | -| MONDO:0957320 | lysosomal acid lipase deficiency | OMIMPS:278000 | MONDO:equivalentTo | Lysosomal acid lipase deficiency | | | | MONDO:0957322 | glycine encephalopathy | OMIMPS:605899 | MONDO:equivalentTo | Glycine encephalopathy | | | | MONDO:0957323 | prolonged electroretinal response suppression | OMIMPS:608415 | MONDO:equivalentTo | Prolonged electroretinal response suppression | | | | MONDO:0957324 | mitochondrial trifunctional protein deficiency | OMIMPS:609015 | MONDO:equivalentTo | Mitochondrial trifunctional protein deficiency | | | | MONDO:0957325 | c1q deficiency | OMIMPS:613652 | MONDO:equivalentTo | C1q deficiency | | | | MONDO:0957400 | cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 | OMIMPS:301108 | MONDO:equivalentTo | Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 | | | | MONDO:0957498 | craniofacial microsomia | OMIMPS:164210 | MONDO:equivalentTo | Craniofacial Microsomia | | | -| MONDO:0957550 | birt-hogg-dube syndrome | OMIMPS:135150 | MONDO:equivalentTo | Birt-Hogg-Dube syndrome | | | | MONDO:0957551 | oculopharyngeal muscular dystrophy | OMIMPS:164300 | MONDO:equivalentTo | Oculopharyngeal muscular dystrophy | | | | MONDO:0957552 | chronic recurrent multifocal osteomyelitis | OMIMPS:609628 | MONDO:equivalentTo | Chronic recurrent multifocal osteomyelitis | | | -| MONDO:0957553 | houte-janssens syndrome | OMIMPS:616355 | MONDO:equivalentTo | Houte-Janssens syndrome | | | +| MONDO:0957553 | houge-janssens syndrome | OMIMPS:616355 | MONDO:equivalentTo | Houge-Janssens syndrome | | | | MONDO:0957560 | hearing loss, noise-induced, susceptibility to | OMIM:613035 | MONDO:equivalentTo | hearing loss, noise-induced, susceptibility to | | | | MONDO:0957561 | encephalitis, acute, infection-induced, susceptibility to, 12 | OMIM:620461 | MONDO:equivalentTo | encephalitis, acute, infection-induced, susceptibility to, 12 | | MONDO:0000166 | | MONDO:0957563 | cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay | OMIM:620469 | MONDO:equivalentTo | cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay | | | | MONDO:0957564 | congenital smooth muscle hamartoma, with or without hemihypertrophy | OMIM:620470 | MONDO:equivalentTo | congenital smooth muscle hamartoma, with or without hemihypertrophy | | | -| MONDO:0957569 | thrombocytopenia 8, with dysmorphic features and developmental delay | OMIM:620475 | MONDO:equivalentTo | thrombocytopenia 8, with dysmorphic features and developmental delay | | MONDO:0100241 | | MONDO:0957572 | thrombocytopenia 9 | OMIM:620478 | MONDO:equivalentTo | thrombocytopenia 9 | | MONDO:0100241 | | MONDO:0957575 | amegakaryocytic thrombocytopenia, congenital, 2 | OMIM:620481 | MONDO:equivalentTo | amegakaryocytic thrombocytopenia, congenital, 2 | | | | MONDO:0957576 | parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development | OMIM:620482 | MONDO:equivalentTo | parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development | | MONDO:0005180 | @@ -71,4 +68,47 @@ | MONDO:0957873 | leukoencephalopathy with vanishing white matter 5 | OMIM:620315 | MONDO:equivalentTo | leukoencephalopathy with vanishing white matter 5 | | MONDO:0800448 | | MONDO:0957874 | neuronopathy, distal hereditary motor, autosomal recessive 9 | OMIM:620402 | MONDO:equivalentTo | neuronopathy, distal hereditary motor, autosomal recessive 9 | | MONDO:0015363 | | MONDO:0957875 | neuronopathy, distal hereditary motor, autosomal dominant 11 | OMIM:620528 | MONDO:equivalentTo | neuronopathy, distal hereditary motor, autosomal dominant 11 | | MONDO:0015362 | -| MONDO:0957876 | neuronopathy, distal hereditary motor, autosomal recessive 10 | OMIM:620542 | MONDO:equivalentTo | neuronopathy, distal hereditary motor, autosomal recessive 10 | | MONDO:0015363 | \ No newline at end of file +| MONDO:0957876 | neuronopathy, distal hereditary motor, autosomal recessive 10 | OMIM:620542 | MONDO:equivalentTo | neuronopathy, distal hereditary motor, autosomal recessive 10 | | MONDO:0015363 | +| MONDO:0957919 | lui-jee-baron syndrome | OMIM:301114 | MONDO:equivalentTo | lui-jee-baron syndrome | | | +| MONDO:0957920 | immunodeficiency 113 with autoimmunity and autoinflammation | OMIM:620565 | MONDO:equivalentTo | immunodeficiency 113 with autoimmunity and autoinflammation | | MONDO:0021094 | +| MONDO:0957921 | cornelia lange lange syndrome 6 | OMIM:620568 | MONDO:equivalentTo | cornelia lange lange syndrome 6 | | MONDO:0016033 | +| MONDO:0957922 | ciliary dyskinesia, primary, 52 | OMIM:620570 | MONDO:equivalentTo | ciliary dyskinesia, primary, 52 | | MONDO:0016575 | +| MONDO:0957928 | otosclerosis 11 | OMIM:620576 | MONDO:equivalentTo | otosclerosis 11 | | MONDO:0005349 | +| MONDO:0957935 | optic atrophy 15 | OMIM:620583 | MONDO:equivalentTo | optic atrophy 15 | | MONDO:0043878 | +| MONDO:0957953 | garg-mishra progeroid syndrome | OMIM:620601 | MONDO:equivalentTo | garg-mishra progeroid syndrome | | MONDO:0020732 | +| MONDO:0957954 | lymphatic malformation 14 | OMIM:620602 | MONDO:equivalentTo | lymphatic malformation 14 | | MONDO:0019313 | +| MONDO:0957955 | immunodeficiency 114, folate-responsive | OMIM:620603 | MONDO:equivalentTo | immunodeficiency 114, folate-responsive | | MONDO:0021094 | +| MONDO:0957958 | spastic paraplegia 72b, autosomal recessive | OMIM:620606 | MONDO:equivalentTo | spastic paraplegia 72b, autosomal recessive | | MONDO:0019064 | +| MONDO:0957960 | long-olsen-distelmaier syndrome | OMIM:620609 | MONDO:equivalentTo | long-olsen-distelmaier syndrome | | | +| MONDO:0957961 | oocyte/zygote/embryo maturation arrest 21 | OMIM:620610 | MONDO:equivalentTo | oocyte/zygote/embryo maturation arrest 21 | | MONDO:0014769 | +| MONDO:0957978 | optic atrophy 16 | OMIM:620629 | MONDO:equivalentTo | optic atrophy 16 | | MONDO:0043878 | +| MONDO:0957981 | immunodeficiency 115 with autoinflammation | OMIM:620632 | MONDO:equivalentTo | immunodeficiency 115 with autoinflammation | | MONDO:0021094 | +| MONDO:0957984 | cardiomyopathy, dilated, 2j | OMIM:620635 | MONDO:equivalentTo | cardiomyopathy, dilated, 2j | | MONDO:0016333 | +| MONDO:0957985 | neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline | OMIM:620636 | MONDO:equivalentTo | neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline | | | +| MONDO:0957988 | osteogenesis imperfecta, iia 23 | OMIM:620639 | MONDO:equivalentTo | osteogenesis imperfecta, iia 23 | | MONDO:0019019 | +| MONDO:0957990 | tan-almurshedi syndrome | OMIM:620641 | MONDO:equivalentTo | tan-almurshedi syndrome | | | +| MONDO:0957991 | ciliary dyskinesia, primary, 53 | OMIM:620642 | MONDO:equivalentTo | ciliary dyskinesia, primary, 53 | | MONDO:0016575 | +| MONDO:0957992 | combined oxidative phosphorylation deficiency 59 | OMIM:620646 | MONDO:equivalentTo | combined oxidative phosphorylation deficiency 59 | | MONDO:0000732 | +| MONDO:0957993 | progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6 | OMIM:620647 | MONDO:equivalentTo | progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6 | | MONDO:0000090 | +| MONDO:0957997 | diabetes, deafness, developmental delay, and short stature syndrome | OMIM:620651 | MONDO:equivalentTo | diabetes, deafness, developmental delay, and short stature syndrome | | | +| MONDO:0957999 | intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly | OMIM:620653 | MONDO:equivalentTo | intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly | | MONDO:0019502 | +| MONDO:0958000 | thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies | OMIM:620654 | MONDO:equivalentTo | thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies | | MONDO:0100241 | +| MONDO:0958001 | alfadhel syndrome | OMIM:620655 | MONDO:equivalentTo | alfadhel syndrome | | | +| MONDO:0958005 | hoxha-aliu syndrome | OMIM:620662 | MONDO:equivalentTo | hoxha-aliu syndrome | | | +| MONDO:0958006 | spondyloepimetaphyseal dysplasia, guo-campeau iia | OMIM:620663 | MONDO:equivalentTo | spondyloepimetaphyseal dysplasia, guo-campeau iia | | | +| MONDO:0958009 | spastic ataxia 10, autosomal recessive | OMIM:620666 | MONDO:equivalentTo | spastic ataxia 10, autosomal recessive | | MONDO:0017845 | +| MONDO:0958011 | immunodeficiency 117 | OMIM:620668 | MONDO:equivalentTo | immunodeficiency 117 | | MONDO:0021094 | +| MONDO:0958012 | neurodegeneration with brain iron accumulation 9 | OMIM:620669 | MONDO:equivalentTo | neurodegeneration with brain iron accumulation 9 | | MONDO:0018307 | +| MONDO:0958013 | immunodeficiency, common variable, 15 | OMIM:620670 | MONDO:equivalentTo | immunodeficiency, common variable, 15 | | MONDO:0015517 | +| MONDO:0958017 | neutropenia, severe congenital, 11, autosomal dominant | OMIM:620674 | MONDO:equivalentTo | neutropenia, severe congenital, 11, autosomal dominant | | MONDO:0018542 | +| MONDO:0958018 | leukodystrophy, hypomyelinating, 27 | OMIM:620675 | MONDO:equivalentTo | leukodystrophy, hypomyelinating, 27 | | MONDO:0019046 | +| MONDO:0958022 | lipodystrophy, familial partial, iia 8 | OMIM:620679 | MONDO:equivalentTo | lipodystrophy, familial partial, iia 8 | | MONDO:0020088 | +| MONDO:0958023 | lipodystrophy, congenital generalized, iia 5 | OMIM:620680 | MONDO:equivalentTo | lipodystrophy, congenital generalized, iia 5 | | MONDO:0006536 | +| MONDO:0958027 | fg syndrome | OMIMPS:305450 | MONDO:equivalentTo | FG syndrome | | | +| MONDO:0958028 | leber hereditary optic neuropathy, autosomal recessive | OMIMPS:619382 | MONDO:equivalentTo | Leber hereditary optic neuropathy, autosomal recessive | | | +| MONDO:0958030 | immunodeficiency 118 | OMIM:301115 | MONDO:equivalentTo | immunodeficiency 118 | | MONDO:0021094 | +| MONDO:0958034 | lipodystrophy, familial partial, iia 9 | OMIM:620683 | MONDO:equivalentTo | lipodystrophy, familial partial, iia 9 | | | +| MONDO:0958035 | premature ovarian failure 23 | OMIM:620686 | MONDO:equivalentTo | premature ovarian failure 23 | | MONDO:0019852 | +| MONDO:0958037 | developmental dysplasia of the hip 3 | OMIM:620690 | MONDO:equivalentTo | developmental dysplasia of the hip 3 | | | +| MONDO:0958039 | myoclonic epilepsy of lafora | OMIMPS:254780 | MONDO:equivalentTo | Myoclonic epilepsy of Lafora | | | +| MONDO:0958040 | supranuclear palsy, progressive | OMIMPS:601104 | MONDO:equivalentTo | Supranuclear palsy, progressive | | | \ No newline at end of file diff --git a/docs/reports/migrate_ordo.md b/docs/reports/migrate_ordo.md index 68eebceb..3f78ed6c 100644 --- a/docs/reports/migrate_ordo.md +++ b/docs/reports/migrate_ordo.md @@ -2,9 +2,103 @@ [Interactive FlatGithub table](https://flatgithub.com/monarch-initiative/mondo-ingest?filename=src/ontology/slurp/ordo.tsv) ### Migratable terms -| mondo_id | mondo_label | xref | xref_source | original_label | definition | parents | -|:--------------|:----------------------|:---------------------|:---------------------------|:----------------------|:-----------------------------------------------------------------------------------------------------------------------------------------|:----------| -| ID | LABEL | A oboInOwl:hasDbXref | >A oboInOwl:source SPLIT=| | | A IAO:0000115 | SC % | -| MONDO:0957601 | group of disorders | Orphanet:557492 | MONDO:equivalentTo | group of disorders | A collection of clinical entities sharing a set of common features. | | -| MONDO:0957602 | disorder | Orphanet:557493 | MONDO:equivalentTo | disorder | A clinical entity characterised by a set of homogeneous phenotypic abnormalities and evolution allowing a definitive clinical diagnosis. | | -| MONDO:0957603 | subtype of a disorder | Orphanet:557494 | MONDO:equivalentTo | subtype of a disorder | Subdivision of a disorder according to a positive criterion. | | \ No newline at end of file +| mondo_id | mondo_label | xref | xref_source | original_label | definition | parents | +|:--------------|:---------------------------------------------------------------------------------------------------|:---------------------|:---------------------------|:---------------------------------------------------------------------------------------------------|:-------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------|:--------------------------------------------------------------------------------------------------| +| ID | LABEL | A oboInOwl:hasDbXref | >A oboInOwl:source SPLIT=| | | A IAO:0000115 | SC % | +| MONDO:0958042 | genetic cerebellar malformation | Orphanet:269560 | MONDO:equivalentTo | Genetic cerebellar malformation | | MONDO:8000033|MONDO:0957009 | +| MONDO:0958043 | genetic syndrome with a dandy-walker malformation as a major feature | Orphanet:269570 | MONDO:equivalentTo | Genetic syndrome with a Dandy-Walker malformation as a major feature | | MONDO:8000033 | +| MONDO:0958044 | okamoto syndrome | Orphanet:2729 | MONDO:equivalentTo | Okamoto syndrome | A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe developmental delay and intellectual disability, generalized hypotonia, growth failure, hydronephrosis, cardiac anomalies, and dysmorphic craniofacial features (such as microcephaly, hypertrichosis, synophrys, long eyelashes, epicanthus, flat nasal bridge, short, upturned nose, long philtrum, low-set ears, open-mouth appearance, full lower lip, cleft palate, and webbed neck). Thin corpus callosum, tethered spinal cord, intestinal malrotation, anal stenosis, and uterus didelphys have also been reported. | MONDO:0015159|MONDO:8000032|MONDO:8000034|MONDO:0035863 | +| MONDO:0958045 | unclassified autoinflammatory syndrome of childhood | Orphanet:324953 | MONDO:equivalentTo | Unclassified autoinflammatory syndrome of childhood | | MONDO:8000033|MONDO:0957018 | +| MONDO:0958046 | unexplained periodic fever syndrome of childhood | Orphanet:324960 | MONDO:equivalentTo | Unexplained periodic fever syndrome of childhood | | MONDO:8000033|MONDO:0957403 | +| MONDO:0958047 | genetic 46,xy difference of sex development of endocrine origin | Orphanet:325713 | MONDO:equivalentTo | Genetic 46,XY difference of sex development of endocrine origin | | MONDO:8000033|MONDO:0957025 | +| MONDO:0958048 | immunoglobulin a nephropathy | Orphanet:34145 | MONDO:equivalentTo | Immunoglobulin A nephropathy | | MONDO:0000001|MONDO:0019722|MONDO:8000034 | +| MONDO:0958049 | rare disorder with corneal involvement as a major feature | Orphanet:519288 | MONDO:equivalentTo | Rare disorder with corneal involvement as a major feature | | MONDO:8000033 | +| MONDO:0958050 | rare disorder with pigmented sclera | Orphanet:519296 | MONDO:equivalentTo | Rare disorder with pigmented sclera | | MONDO:8000033|MONDO:0035037 | +| MONDO:0958051 | rare macular disorder | Orphanet:519313 | MONDO:equivalentTo | Rare macular disorder | | MONDO:8000033 | +| MONDO:0958052 | rare retinal vasculopathy | Orphanet:519317 | MONDO:equivalentTo | Rare retinal vasculopathy | | MONDO:8000033 | +| MONDO:0958053 | syndromic chorioretinal dystrophy | Orphanet:519321 | MONDO:equivalentTo | Syndromic chorioretinal dystrophy | | MONDO:8000033 | +| MONDO:0958054 | rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature | Orphanet:522506 | MONDO:equivalentTo | Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature | | MONDO:8000033|MONDO:0957003 | +| MONDO:0958055 | rare genetic ophthalmic disorder with cortical involvement | Orphanet:522508 | MONDO:equivalentTo | Rare genetic ophthalmic disorder with cortical involvement | | MONDO:8000033|MONDO:0957003 | +| MONDO:0958056 | rare genetic ophthalmic disorder with cranial nerve involvement | Orphanet:522510 | MONDO:equivalentTo | Rare genetic ophthalmic disorder with cranial nerve involvement | | MONDO:8000033|MONDO:0957003 | +| MONDO:0958057 | rare genetic ocular motility/alignment disorder | Orphanet:522516 | MONDO:equivalentTo | Rare genetic ocular motility/alignment disorder | | MONDO:8000033|MONDO:0957003 | +| MONDO:0958058 | rare genetic palpebral disorder | Orphanet:522526 | MONDO:equivalentTo | Rare genetic palpebral disorder | | MONDO:8000033|MONDO:0026186 | +| MONDO:0958059 | rare genetic disorder of the lacrimal apparatus | Orphanet:522532 | MONDO:equivalentTo | Rare genetic disorder of the lacrimal apparatus | | MONDO:8000033 | +| MONDO:0958060 | rare genetic disorder with lens opacification | Orphanet:522546 | MONDO:equivalentTo | Rare genetic disorder with lens opacification | | MONDO:8000033 | +| MONDO:0958061 | lens size anomaly of genetic origin | Orphanet:522550 | MONDO:equivalentTo | Lens size anomaly of genetic origin | | MONDO:8000033|MONDO:0026186 | +| MONDO:0958062 | lens position anomaly of genetic origin | Orphanet:522552 | MONDO:equivalentTo | Lens position anomaly of genetic origin | | MONDO:8000033|MONDO:0026186 | +| MONDO:0958063 | rare genetic disorder with corneal involvement as a major feature | Orphanet:522558 | MONDO:equivalentTo | Rare genetic disorder with corneal involvement as a major feature | | MONDO:8000033 | +| MONDO:0958064 | rare genetic macular disorder | Orphanet:522574 | MONDO:equivalentTo | Rare genetic macular disorder | | MONDO:8000033 | +| MONDO:0958065 | rare genetic retinal vasculopathy | Orphanet:522576 | MONDO:equivalentTo | Rare genetic retinal vasculopathy | | MONDO:8000033 | +| MONDO:0958066 | progressive myoclonic epilepsy with neuroserpin inclusion bodies | Orphanet:530298 | MONDO:equivalentTo | Progressive myoclonic epilepsy with neuroserpin inclusion bodies | | MONDO:0011412|MONDO:8000031 | +| MONDO:0958067 | rare disorder due to unbalanced inter-twin blood transfusion | Orphanet:617310 | MONDO:equivalentTo | Rare disorder due to unbalanced inter-twin blood transfusion | | MONDO:8000033 | +| MONDO:0958068 | rare disorder due to inadequate sharing of the placenta | Orphanet:617313 | MONDO:equivalentTo | Rare disorder due to inadequate sharing of the placenta | | MONDO:8000033 | +| MONDO:0958069 | rare hereditary autoinflammatory disease | Orphanet:619238 | MONDO:equivalentTo | Rare hereditary autoinflammatory disease | | MONDO:8000033|MONDO:0028795 | +| MONDO:0958070 | imprinting disorders | Orphanet:641343 | MONDO:equivalentTo | Imprinting disorders | | MONDO:0021198|MONDO:8000033 | +| MONDO:0958071 | hao-fountain syndrome due to usp7 mutation | Orphanet:643538 | MONDO:equivalentTo | Hao-Fountain syndrome due to USP7 mutation | | MONDO:0014805|MONDO:8000031 | +| MONDO:0958072 | closed spinal dysraphism | Orphanet:645202 | MONDO:equivalentTo | Closed spinal dysraphism | A rare group of spinal dysraphisms, also referred to as spina bifida occulta, with a high variability in terms of severity,characterized by the absence of exposed neural tissue. The skin overlying the abnormality remains intact although the skin itself may be abnormal with features such as hairy patch of skin, crater or haemangioma. These skin features are known as the cutaneous stigmata of spinal dysraphism. | MONDO:0019351|MONDO:8000033 | +| MONDO:0958073 | open spinal dysraphism with a posterior meningocele | Orphanet:645270 | MONDO:equivalentTo | Open spinal dysraphism with a posterior meningocele | A rare dysraphism characterized by absence of skin covering, the neural elements are exposed to the external environment and there is herniation of a cerebrospinal fluid filled sac through a posterior spina bifida. It is typically located in the lumbosacral region. Evidence of complete or partial Chiari II malformation is present. | MONDO:8000033|MONDO:0017069|MONDO:0017062 | +| MONDO:0958074 | anomaly of the filum | Orphanet:645282 | MONDO:equivalentTo | Anomaly of the filum | A rare group of dysraphic abnormality characterized by anatomical anomaly of the filum. The filum lacks its normal characteristics (thin, loose extension of the pia mater under the termination of the spinal cord). | MONDO:8000033|MONDO:0017059 | +| MONDO:0958075 | intramedullary non-dysraphic spinal cord lipoma | Orphanet:645359 | MONDO:equivalentTo | Intramedullary non-dysraphic spinal cord lipoma | A very rare non-dysraphic spinal cord lipoma characterized by being located within the spinal cord. There is no defect in the overlying dura. | MONDO:0001790|MONDO:8000034|MONDO:8000030 | +| MONDO:0958076 | myeloschisis | Orphanet:645398 | MONDO:equivalentTo | Myeloschisis | A rare form of spina bifida/open neural tube defect (NTD) chacterized by absence of a cystic component, dysplastic meninges and neural placode exposed through a defect in the posterior vertebral arches (spina bifida) that are contiguous with surrounding skin. The placode is at or below the skin plane and is typically associated with a Chiari II malformation. It is usually isolated or rarely associated with split cord malformation. | MONDO:8000034|MONDO:8000030|MONDO:0017062 | +| MONDO:0958077 | collagen vi-related congenital muscular dystrophy | Orphanet:646098 | MONDO:equivalentTo | Collagen VI-related congenital muscular dystrophy | | MONDO:8000033|MONDO:0019950 | +| MONDO:0958078 | mandibuloacral dysplasia associated to mtx2 | Orphanet:647667 | MONDO:equivalentTo | Mandibuloacral dysplasia associated to MTX2 | | MONDO:0019707|MONDO:8000032|MONDO:0031689|MONDO:0015333|MONDO:8000034 | +| MONDO:0958079 | adrenal cushing syndrome | Orphanet:647758 | MONDO:equivalentTo | Adrenal Cushing syndrome | | MONDO:0957431|MONDO:8000033 | +| MONDO:0958080 | rare adrenocortical nodular disease with cushing syndrome as a major feature | Orphanet:647768 | MONDO:equivalentTo | Rare adrenocortical nodular disease with Cushing syndrome as a major feature | | MONDO:8000033|MONDO:0017820 | +| MONDO:0958081 | keratoendotheliitis fugax hereditaria | Orphanet:647815 | MONDO:equivalentTo | Keratoendotheliitis fugax hereditaria | | MONDO:8000034|MONDO:0000001|MONDO:0016168 | +| MONDO:0958082 | slc40a1-related hemochromatosis | Orphanet:647834 | MONDO:equivalentTo | SLC40A1-related hemochromatosis | A form of rare hemochromatosis (HC) characterized by increased transferrin saturation and hepatocellular iron deposition with distribution patterns and clinical features indistinguishable from patients with other types of HC. | MONDO:8000034|MONDO:0000001 | +| MONDO:0958083 | conjoined twins | Orphanet:647916 | MONDO:equivalentTo | Conjoined twins | | MONDO:0019755|MONDO:8000032|MONDO:8000034 | +| MONDO:0958084 | rare scleritis | Orphanet:648559 | MONDO:equivalentTo | Rare scleritis | | MONDO:8000033 | +| MONDO:0958085 | digenic hemochromatosis | Orphanet:648581 | MONDO:equivalentTo | Digenic hemochromatosis | A rare subtype of hemochromatosis characterized by the combination of pathogenic variants in two genes involved in iron metabolism (usually a combination of HFE and non-HFE mutations), where the classical HFE-related hemochromatosis is not enough to fully explain the clinical picture of the patient. | MONDO:8000034|MONDO:0016363|MONDO:0000001 | +| MONDO:0958086 | bronchial malformation | Orphanet:649014 | MONDO:equivalentTo | Bronchial malformation | | MONDO:8000033|MONDO:0015930|MONDO:0015221 | +| MONDO:0958087 | rare adrenocortical nodular disease | Orphanet:649017 | MONDO:equivalentTo | Rare adrenocortical nodular disease | | MONDO:8000033|MONDO:0021227 | +| MONDO:0958088 | rare central precocious puberty | Orphanet:650063 | MONDO:equivalentTo | Rare central precocious puberty | | MONDO:0000088|MONDO:8000033 | +| MONDO:0958089 | genetic central precocious puberty | Orphanet:650182 | MONDO:equivalentTo | Genetic central precocious puberty | | MONDO:8000033|MONDO:0033329 | +| MONDO:0958090 | rare peripheral precocious puberty in female | Orphanet:650187 | MONDO:equivalentTo | Rare peripheral precocious puberty in female | | MONDO:8000033|MONDO:0018561 | +| MONDO:0958091 | cleft palate-congenital heart defect-intellectual disability syndrome | Orphanet:652519 | MONDO:equivalentTo | Cleft palate-congenital heart defect-intellectual disability syndrome | | MONDO:0035863|MONDO:8000034|MONDO:0000001|MONDO:0015159 | +| MONDO:0958092 | periodic fever-immunodeficiency-thrombocytopenia syndrome | Orphanet:652522 | MONDO:equivalentTo | Periodic fever-immunodeficiency-thrombocytopenia syndrome | | MONDO:0018795|MONDO:8000034|MONDO:0000001|MONDO:0017953|MONDO:0017369 | +| MONDO:0958093 | non-syndromic supernumerary kidneys | Orphanet:652528 | MONDO:equivalentTo | Non-syndromic supernumerary kidneys | | MONDO:0019720|MONDO:8000034|MONDO:8000030 | +| MONDO:0958094 | adult-onset progressive leukoencephalopathy-early-onset deafness | Orphanet:652532 | MONDO:equivalentTo | Adult-onset progressive leukoencephalopathy-early-onset deafness | A rare genetic neurological disorder characterized by congenital or early-onset sensorineural deafness and adult-onset progressive leukoencephalopathy. Progressive cognitive impairment and behavioral abnormalities are observed in the second or third decade of life, sometimes preceded by mild developmental delay and learning difficulties. Visual impairment in adult age has been reported. No central nervous system calcification is reported. | MONDO:8000034|MONDO:0019046|MONDO:0000001|MONDO:0019589 | +| MONDO:0958095 | nodal t-follicular helper cell lymphoma, follicular type | Orphanet:652650 | MONDO:equivalentTo | Nodal T-follicular helper cell lymphoma, follicular type | | MONDO:0015760|MONDO:8000034|MONDO:0000001 | +| MONDO:0958096 | monomorphic epitheliotropic intestinal t-cell lymphoma | Orphanet:652658 | MONDO:equivalentTo | Monomorphic epitheliotropic intestinal T-cell lymphoma | | MONDO:8000034|MONDO:0018505|MONDO:0015760|MONDO:0000001 | +| MONDO:0958097 | primary superior vena cava aneurysm | Orphanet:652668 | MONDO:equivalentTo | Primary superior vena cava aneurysm | | MONDO:0019829|MONDO:8000034|MONDO:8000032 | +| MONDO:0958098 | primary inferior vena cava aneurysm | Orphanet:652678 | MONDO:equivalentTo | Primary inferior vena cava aneurysm | | MONDO:0019830|MONDO:8000034|MONDO:8000030 | +| MONDO:0958099 | idiopathic subglottic stenosis | Orphanet:652681 | MONDO:equivalentTo | Idiopathic subglottic stenosis | | MONDO:0020017|MONDO:8000034|MONDO:0000001 | +| MONDO:0958100 | autoinflammatory syndrome with acne and/or hidradenitis suppurativa | Orphanet:653434 | MONDO:equivalentTo | Autoinflammatory syndrome with acne and/or hidradenitis suppurativa | | MONDO:8000033|MONDO:0017954|MONDO:0017370 | +| MONDO:0958101 | lymphocytic mastitis | Orphanet:653698 | MONDO:equivalentTo | Lymphocytic mastitis | | MONDO:8000034|MONDO:0000001|MONDO:0015858 | +| MONDO:0958102 | cone rod dystrophy-short stature syndrome | Orphanet:653709 | MONDO:equivalentTo | Cone rod dystrophy-short stature syndrome | | MONDO:8000034|MONDO:0000001 | +| MONDO:0958103 | chd4-related neurodevelopmental disorder | Orphanet:653712 | MONDO:equivalentTo | CHD4-related neurodevelopmental disorder | | MONDO:0000001|MONDO:0035863|MONDO:8000034|MONDO:0015159 | +| MONDO:0958104 | digenic alport syndrome | Orphanet:653722 | MONDO:equivalentTo | Digenic Alport syndrome | | MONDO:8000031|MONDO:0018965 | +| MONDO:0958105 | autosomal recessive limb-girdle muscular dystrophy, type 28 | Orphanet:653725 | MONDO:equivalentTo | Autosomal recessive limb-girdle muscular dystrophy, type 28 | | MONDO:8000034|MONDO:0000001|MONDO:0015152 | +| MONDO:0958106 | congenital insensitivity to pain syndrome, marsili type | Orphanet:653728 | MONDO:equivalentTo | Congenital insensitivity to pain syndrome, Marsili type | | MONDO:8000034|MONDO:0000001|MONDO:0015366|MONDO:0015365 | +| MONDO:0958107 | x-linked combined immunodeficiency due to sash3 deficiency | Orphanet:653751 | MONDO:equivalentTo | X-linked combined immunodeficiency due to SASH3 deficiency | | MONDO:0018814|MONDO:0000001|MONDO:8000034 | +| MONDO:0958108 | jansen-de vries syndrome | Orphanet:653767 | MONDO:equivalentTo | Jansen-de Vries syndrome | | MONDO:0000001|MONDO:8000034|MONDO:0035863|MONDO:0015159 | +| MONDO:0958109 | mitochondrial short-chain enoyl-coa hydratase 1 deficiency | Orphanet:653880 | MONDO:equivalentTo | Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency | | MONDO:8000034|MONDO:0000001|MONDO:0019213 | +| MONDO:0958110 | atrophic papulosis | Orphanet:656071 | MONDO:equivalentTo | Atrophic papulosis | | MONDO:0015948|MONDO:0000001|MONDO:0019293|MONDO:8000034 | +| MONDO:0958111 | pbx1-related congenital anomalies of kidney and urinary tract syndrome | Orphanet:656130 | MONDO:equivalentTo | PBX1-related congenital anomalies of kidney and urinary tract syndrome | | MONDO:0000001|MONDO:0035863|MONDO:0019721|MONDO:0015159|MONDO:8000034|MONDO:0019589 | +| MONDO:0958112 | intellectual disability-cupped ears syndrome | Orphanet:656135 | MONDO:equivalentTo | Intellectual disability-cupped ears syndrome | | MONDO:0000001|MONDO:0035863|MONDO:8000034|MONDO:0015159 | +| MONDO:0958113 | hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome | Orphanet:656273 | MONDO:equivalentTo | Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome | | MONDO:8000034|MONDO:0035862|MONDO:0015510|MONDO:0032013|MONDO:0015118|MONDO:0018497|MONDO:0018557 | +| MONDO:0958114 | 1p36.33 duplication syndrome | Orphanet:656279 | MONDO:equivalentTo | 1p36.33 duplication syndrome | | MONDO:0000001|MONDO:8000034|MONDO:0016327|MONDO:0016803|MONDO:0019058|MONDO:0017012 | +| MONDO:0958115 | autosomal recessive combined immunodeficiency due to complete il6st deficiency | Orphanet:656283 | MONDO:equivalentTo | Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency | | MONDO:0019698|MONDO:0018037|MONDO:8000034|MONDO:0000001 | +| MONDO:0958116 | autosomal recessive combined immunodeficiency due to partial il6st deficiency | Orphanet:656300 | MONDO:equivalentTo | Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency | | MONDO:8000034|MONDO:0018037|MONDO:0000001|MONDO:0026166|MONDO:0019305 | +| MONDO:0958117 | autosomal dominant combined immunodeficiency due to partial il6st deficiency | Orphanet:656313 | MONDO:equivalentTo | Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency | | MONDO:0018037|MONDO:0000001|MONDO:8000034 | +| MONDO:0958118 | autosomal recessive combined immunodeficiency due to il6r deficiency | Orphanet:656326 | MONDO:equivalentTo | Autosomal recessive combined immunodeficiency due to IL6R deficiency | | MONDO:8000034|MONDO:0026166|MONDO:0019305|MONDO:0000001|MONDO:0018037 | +| MONDO:0958119 | embryonal tumor with multilayered rosettes | Orphanet:656417 | MONDO:equivalentTo | Embryonal tumor with multilayered rosettes | | MONDO:8000034|MONDO:0000001|MONDO:0016713 | +| MONDO:0958120 | autosomal dominant combined immunodeficiency due to erbin deficiency | Orphanet:656912 | MONDO:equivalentTo | Autosomal dominant combined immunodeficiency due to ERBIN deficiency | | MONDO:8000034|MONDO:0026166|MONDO:0018037|MONDO:0000001|MONDO:0019305 | +| MONDO:0958121 | 16q22 deletion syndrome | Orphanet:658540 | MONDO:equivalentTo | 16q22 deletion syndrome | | MONDO:0035863|MONDO:8000034|MONDO:0000001|MONDO:0016914|MONDO:0015159 | +| MONDO:0958122 | idiopathic small fibers neuropathy | Orphanet:658549 | MONDO:equivalentTo | Idiopathic small fibers neuropathy | | MONDO:8000034|MONDO:0000001|MONDO:0015923 | +| MONDO:0958123 | isolated pulmonary artery sling | Orphanet:658574 | MONDO:equivalentTo | Isolated pulmonary artery sling | | MONDO:8000034|MONDO:0015239|MONDO:8000030 | +| MONDO:0958124 | rowell syndrome | Orphanet:658584 | MONDO:equivalentTo | Rowell syndrome | | MONDO:8000034|MONDO:0000001|MONDO:0017841|MONDO:0015940 | +| MONDO:0958125 | eyelid sebaceous carcinoma | Orphanet:658590 | MONDO:equivalentTo | Eyelid sebaceous carcinoma | | MONDO:8000034|MONDO:0000001|MONDO:0015121 | +| MONDO:0958126 | dnmt3a-related microcephalic dwarfism | Orphanet:658595 | MONDO:equivalentTo | DNMT3A-related microcephalic dwarfism | | MONDO:8000034|MONDO:8000032|MONDO:0017950 | +| MONDO:0958127 | transplant-related bronchiolitis obliterans | Orphanet:658602 | MONDO:equivalentTo | Transplant-related bronchiolitis obliterans | | MONDO:8000034|MONDO:0000001|MONDO:0015265 | +| MONDO:0958128 | non-transplant-related bronchiolitis obliterans | Orphanet:658612 | MONDO:equivalentTo | Non-transplant-related bronchiolitis obliterans | | MONDO:8000034|MONDO:0000001|MONDO:0015265 | +| MONDO:0958129 | coq7-related distal hereditary motor neuropathy | Orphanet:658778 | MONDO:equivalentTo | COQ7-related distal hereditary motor neuropathy | | MONDO:8000034|MONDO:0000001|MONDO:0018151|MONDO:0015363 | +| MONDO:0958130 | greig cephalopolysyndactyly-contiguous gene syndrome | Orphanet:658805 | MONDO:equivalentTo | Greig cephalopolysyndactyly-contiguous gene syndrome | | MONDO:0015161|MONDO:0017434|MONDO:0000001|MONDO:0016889|MONDO:8000034|MONDO:0043008|MONDO:0005308 | +| MONDO:0958131 | atrophoderma of pasini and pierini | Orphanet:658810 | MONDO:equivalentTo | Atrophoderma of Pasini and Pierini | | MONDO:0021154|MONDO:8000034|MONDO:0000001 | +| MONDO:0958132 | methylenetetrahydrofolate dehydrogenase 1 deficiency | Orphanet:658813 | MONDO:equivalentTo | Methylenetetrahydrofolate dehydrogenase 1 deficiency | | MONDO:0020111|MONDO:8000034|MONDO:0000001|MONDO:0017313 | +| MONDO:0958133 | developmental delay-ataxia-hypotonia-facial dysmorphism syndrome | Orphanet:658843 | MONDO:equivalentTo | Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome | | MONDO:0035863|MONDO:8000034|MONDO:0000001|MONDO:0015159 | +| MONDO:0958134 | fasciolopsiasis | Orphanet:658909 | MONDO:equivalentTo | Fasciolopsiasis | | MONDO:8000034|MONDO:0000001|MONDO:0015675 | +| MONDO:0958135 | paragonimiasis | Orphanet:658913 | MONDO:equivalentTo | Paragonimiasis | | MONDO:8000034|MONDO:0000001|MONDO:0015675 | +| MONDO:0958136 | clonorchiasis | Orphanet:658917 | MONDO:equivalentTo | Clonorchiasis | | MONDO:8000034|MONDO:0000001|MONDO:0015675 | +| MONDO:0958137 | early-onset autoimmune disorder due to dock11 partial deficiency | Orphanet:658946 | MONDO:equivalentTo | Early-onset autoimmune disorder due to DOCK11 partial deficiency | | MONDO:0026166|MONDO:8000034|MONDO:0015709|MONDO:0000001|MONDO:0017956|MONDO:0019305 | +| MONDO:0958138 | early-onset immune dysregulation due to dock11 complete deficiency | Orphanet:658951 | MONDO:equivalentTo | Early-onset immune dysregulation due to DOCK11 complete deficiency | | MONDO:0015710|MONDO:8000034|MONDO:0015940|MONDO:0000001|MONDO:0028795 | \ No newline at end of file diff --git a/docs/reports/unmapped.md b/docs/reports/unmapped.md index 6809a729..f011e03b 100644 --- a/docs/reports/unmapped.md +++ b/docs/reports/unmapped.md @@ -5,9 +5,9 @@ | [ICD10CM](./unmapped_icd10cm.md) | 95,847 | 15,452 | 0 | 0 | 80,395 | 1,161 | 79,234 | 98.6% | | [NCIT](./unmapped_ncit.md) | 187,170 | 166,382 | 5,166 | 5,154 | 15,622 | 3,682 | 11,940 | 76.4% | | [GARD](./unmapped_gard.md) | 12,004 | 0 | 0 | 0 | 12,004 | 0 | 12,004 | 100.0% | -| [DOID](./unmapped_doid.md) | 13,932 | 2,643 | 2,478 | 2,468 | 11,287 | 11,087 | 200 | 1.8% | | [ORDO](./unmapped_ordo.md) | 10,915 | 1,724 | 1,391 | 1,166 | 9,191 | 9,025 | 166 | 1.8% | -| [OMIM](./unmapped_omim.md) | 29,164 | 19,168 | 1,359 | 1,316 | 8,638 | 8,522 | 116 | 1.3% | +| [DOID](./unmapped_doid.md) | 13,932 | 2,643 | 2,478 | 2,468 | 11,287 | 11,087 | 200 | 1.8% | +| [OMIM](./unmapped_omim.md) | 29,176 | 19,173 | 1,359 | 1,316 | 8,645 | 8,522 | 123 | 1.4% | `Ontology`: Name of ontology `Tot terms`: Total terms in ontology diff --git a/docs/reports/unmapped_omim.md b/docs/reports/unmapped_omim.md index 3ef0fd61..bed2afbc 100644 --- a/docs/reports/unmapped_omim.md +++ b/docs/reports/unmapped_omim.md @@ -19,10 +19,12 @@ | OMIMPS:619382 | Leber hereditary optic neuropathy, autosomal recessive | | OMIMPS:151623 | Li-Fraumeni syndrome | | OMIMPS:609015 | Mitochondrial trifunctional protein deficiency | +| OMIMPS:254780 | Myoclonic epilepsy of Lafora | | OMIMPS:167030 | Nephrolithiasis, calcium oxalate | | OMIMPS:164300 | Oculopharyngeal muscular dystrophy | | OMIMPS:608415 | Prolonged electroretinal response suppression | | OMIMPS:177735 | Pseudohypoaldosteronism, type I | +| OMIMPS:601104 | Supranuclear palsy, progressive | | OMIM:620655 | alfadhel syndrome | | OMIM:620536 | alport syndrome 3b, autosomal recessive | | OMIM:620481 | amegakaryocytic thrombocytopenia, congenital, 2 | @@ -49,6 +51,7 @@ | OMIM:620537 | developmental and epileptic encephalopathy 112 | | OMIM:620540 | developmental delay with or without epilepsy | | OMIM:620535 | developmental delay, dysmorphic facies, and brain anomalies | +| OMIM:620690 | developmental dysplasia of the hip 3 | | OMIM:620651 | diabetes, deafness, developmental delay, and short stature syndrome | | OMIM:620461 | encephalitis, acute, infection-induced, susceptibility to, 12 | | OMIM:620150 | epidermolytic hyperkeratosis 2 | @@ -66,6 +69,7 @@ | OMIM:620603 | immunodeficiency 114, folate-responsive | | OMIM:620632 | immunodeficiency 115 with autoinflammation | | OMIM:620668 | immunodeficiency 117 | +| OMIM:301115 | immunodeficiency 118 | | OMIM:620670 | immunodeficiency, common variable, 15 | | OMIM:620653 | intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly | | OMIM:620569 | leber-like hereditary optic neuropathy, autosomal recessive 2 | @@ -76,11 +80,13 @@ | OMIM:620315 | leukoencephalopathy with vanishing white matter 5 | | OMIM:620680 | lipodystrophy, congenital generalized, iia 5 | | OMIM:620679 | lipodystrophy, familial partial, iia 8 | +| OMIM:620683 | lipodystrophy, familial partial, iia 9 | | OMIM:620609 | long-olsen-distelmaier syndrome | | OMIM:620410 | low density lipoprotein cholesterol level quantitative trait locus 3 | | OMIM:301114 | lui-jee-baron syndrome | | OMIM:620602 | lymphatic malformation 14 | | OMIM:620300 | mitochondrial trifunctional protein deficiency 2 | +| OMIM:620681 | myoclonic epilepsy of lafora 2 | | OMIM:620374 | nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis | | OMIM:620669 | neurodegeneration with brain iron accumulation 9 | | OMIM:620636 | neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline | @@ -102,6 +108,7 @@ | OMIM:620576 | otosclerosis 11 | | OMIM:620482 | parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development | | OMIM:620548 | premature ovarian failure 22 | +| OMIM:620686 | premature ovarian failure 23 | | OMIM:620647 | progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6 | | OMIM:620344 | prolonged electroretinal response suppression 2 | | OMIM:620666 | spastic ataxia 10, autosomal recessive | diff --git a/src/mappings/gard.sssom.tsv b/src/mappings/gard.sssom.tsv index 261dc51e..295ecfc0 100644 --- a/src/mappings/gard.sssom.tsv +++ b/src/mappings/gard.sssom.tsv @@ -9,7 +9,7 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/338d1aff-858b-4c4f-87ca-c30702cbbb0c +# mapping_set_id: https://w3id.org/sssom/mappings/84cc61a4-1d2a-44aa-8cad-bc030cc45268 subject_id subject_label predicate_id object_id mapping_justification obo:GARD_1 GRACILE syndrome skos:exactMatch Orphanet:53693 semapv:UnspecifiedMatching obo:GARD_1 GRACILE syndrome skos:narrowMatch OMIM:603358 semapv:UnspecifiedMatching diff --git a/src/mappings/icd10cm.sssom.tsv b/src/mappings/icd10cm.sssom.tsv index e68cb658..702b48cc 100644 --- a/src/mappings/icd10cm.sssom.tsv +++ b/src/mappings/icd10cm.sssom.tsv @@ -6,6 +6,6 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/54958876-ad10-4b71-a196-e4022b995340 +# mapping_set_id: https://w3id.org/sssom/mappings/1cc89f1e-5aff-4f31-a7c4-7f5df385e58c diff --git a/src/mappings/icd10who.sssom.tsv b/src/mappings/icd10who.sssom.tsv index 0dd79347..6980683b 100644 --- a/src/mappings/icd10who.sssom.tsv +++ b/src/mappings/icd10who.sssom.tsv @@ -6,6 +6,6 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/54265bb7-d705-4425-b6a2-1a813cc28755 +# mapping_set_id: https://w3id.org/sssom/mappings/6cd7380d-1a91-40af-9c77-88cba981f307 diff --git a/src/mappings/ncit.sssom.tsv b/src/mappings/ncit.sssom.tsv index a6852903..1050e941 100644 --- a/src/mappings/ncit.sssom.tsv +++ b/src/mappings/ncit.sssom.tsv @@ -9,7 +9,7 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/786e2753-4cf7-458c-9406-2500129faa60 +# mapping_set_id: https://w3id.org/sssom/mappings/2e301b07-0a89-430a-978d-c774ebe105a6 subject_id subject_label predicate_id object_id mapping_justification NCIT:C103222 Popliteal Fossa oboInOwl:hasDbXref UBERON:0013069 semapv:UnspecifiedMatching NCIT:C103384 Common Iliac Lymph Node oboInOwl:hasDbXref UBERON:0015878 semapv:UnspecifiedMatching diff --git a/src/mappings/omim.sssom.tsv b/src/mappings/omim.sssom.tsv index 0b745ecc..5c80391b 100644 --- a/src/mappings/omim.sssom.tsv +++ b/src/mappings/omim.sssom.tsv @@ -9324,9 +9324,9 @@ OMIM:254450 myelofibrosis skos:exactMatch Orphanet:824 semapv:UnspecifiedMatchin OMIM:254450 myelofibrosis skos:exactMatch UMLS:C0026987 semapv:UnspecifiedMatching OMIM:254600 myeloperoxidase deficiency skos:exactMatch Orphanet:2587 semapv:UnspecifiedMatching OMIM:254600 myeloperoxidase deficiency skos:exactMatch UMLS:C0398595 semapv:UnspecifiedMatching -OMIM:254780 myoclonic epilepsy of lafora skos:exactMatch Orphanet:501 semapv:UnspecifiedMatching -OMIM:254780 myoclonic epilepsy of lafora skos:exactMatch UMLS:C0751783 semapv:UnspecifiedMatching -OMIM:254780 myoclonic epilepsy of lafora skos:exactMatch UMLS:C1850764 semapv:UnspecifiedMatching +OMIM:254780 myoclonic epilepsy of lafora 1 skos:exactMatch Orphanet:501 semapv:UnspecifiedMatching +OMIM:254780 myoclonic epilepsy of lafora 1 skos:exactMatch UMLS:C0751783 semapv:UnspecifiedMatching +OMIM:254780 myoclonic epilepsy of lafora 1 skos:exactMatch UMLS:C1850764 semapv:UnspecifiedMatching OMIM:254800 myoclonic epilepsy of unverricht and lundborg skos:exactMatch Orphanet:308 semapv:UnspecifiedMatching OMIM:254800 myoclonic epilepsy of unverricht and lundborg skos:exactMatch UMLS:C0751785 semapv:UnspecifiedMatching OMIM:255160 congenital myopathy 7b, myosin storage, autosomal recessive skos:exactMatch Orphanet:53698 semapv:UnspecifiedMatching @@ -31250,12 +31250,12 @@ OMIM:606956 ZNF256 skos:exactMatch ncbigene:10172 semapv:UnspecifiedMatching OMIM:606957 ZNF257 skos:exactMatch hgnc.symbol:13498 semapv:UnspecifiedMatching OMIM:606957 ZNF257 skos:exactMatch hgnc.symbol:ZNF257 semapv:UnspecifiedMatching OMIM:606957 ZNF257 skos:exactMatch ncbigene:113835 semapv:UnspecifiedMatching -OMIM:606958 MPP5 skos:exactMatch hgnc.symbol:18669 semapv:UnspecifiedMatching -OMIM:606958 MPP5 skos:exactMatch hgnc.symbol:PALS1 semapv:UnspecifiedMatching -OMIM:606958 MPP5 skos:exactMatch ncbigene:64398 semapv:UnspecifiedMatching -OMIM:606959 MPP6 skos:exactMatch hgnc.symbol:18167 semapv:UnspecifiedMatching -OMIM:606959 MPP6 skos:exactMatch hgnc.symbol:PALS2 semapv:UnspecifiedMatching -OMIM:606959 MPP6 skos:exactMatch ncbigene:51678 semapv:UnspecifiedMatching +OMIM:606958 PALS1 skos:exactMatch hgnc.symbol:18669 semapv:UnspecifiedMatching +OMIM:606958 PALS1 skos:exactMatch hgnc.symbol:PALS1 semapv:UnspecifiedMatching +OMIM:606958 PALS1 skos:exactMatch ncbigene:64398 semapv:UnspecifiedMatching +OMIM:606959 PALS2 skos:exactMatch hgnc.symbol:18167 semapv:UnspecifiedMatching +OMIM:606959 PALS2 skos:exactMatch hgnc.symbol:PALS2 semapv:UnspecifiedMatching +OMIM:606959 PALS2 skos:exactMatch ncbigene:51678 semapv:UnspecifiedMatching OMIM:606961 WBP1 skos:exactMatch hgnc.symbol:12737 semapv:UnspecifiedMatching OMIM:606961 WBP1 skos:exactMatch hgnc.symbol:WBP1 semapv:UnspecifiedMatching OMIM:606961 WBP1 skos:exactMatch ncbigene:23559 semapv:UnspecifiedMatching @@ -59926,6 +59926,15 @@ OMIM:620624 MIR519A1 skos:exactMatch ncbigene:574496 semapv:UnspecifiedMatching OMIM:620625 MIR527 skos:exactMatch hgnc.symbol:32129 semapv:UnspecifiedMatching OMIM:620625 MIR527 skos:exactMatch hgnc.symbol:MIR527 semapv:UnspecifiedMatching OMIM:620625 MIR527 skos:exactMatch ncbigene:574497 semapv:UnspecifiedMatching +OMIM:620626 MIR516A1 skos:exactMatch hgnc.symbol:32130 semapv:UnspecifiedMatching +OMIM:620626 MIR516A1 skos:exactMatch hgnc.symbol:MIR516A1 semapv:UnspecifiedMatching +OMIM:620626 MIR516A1 skos:exactMatch ncbigene:574498 semapv:UnspecifiedMatching +OMIM:620627 MIR516A2 skos:exactMatch hgnc.symbol:32131 semapv:UnspecifiedMatching +OMIM:620627 MIR516A2 skos:exactMatch hgnc.symbol:MIR516A2 semapv:UnspecifiedMatching +OMIM:620627 MIR516A2 skos:exactMatch ncbigene:574499 semapv:UnspecifiedMatching +OMIM:620628 MIR519A2 skos:exactMatch hgnc.symbol:32132 semapv:UnspecifiedMatching +OMIM:620628 MIR519A2 skos:exactMatch hgnc.symbol:MIR519A2 semapv:UnspecifiedMatching +OMIM:620628 MIR519A2 skos:exactMatch ncbigene:574500 semapv:UnspecifiedMatching OMIM:620630 TMEM170A skos:exactMatch hgnc.symbol:29577 semapv:UnspecifiedMatching OMIM:620630 TMEM170A skos:exactMatch hgnc.symbol:TMEM170A semapv:UnspecifiedMatching OMIM:620630 TMEM170A skos:exactMatch ncbigene:124491 semapv:UnspecifiedMatching @@ -59995,4 +60004,16 @@ OMIM:620677 TMEM192 skos:exactMatch ncbigene:201931 semapv:UnspecifiedMatching OMIM:620678 RINL skos:exactMatch hgnc.symbol:24795 semapv:UnspecifiedMatching OMIM:620678 RINL skos:exactMatch hgnc.symbol:RINL semapv:UnspecifiedMatching OMIM:620678 RINL skos:exactMatch ncbigene:126432 semapv:UnspecifiedMatching +OMIM:620682 SZRD1 skos:exactMatch hgnc.symbol:30232 semapv:UnspecifiedMatching +OMIM:620682 SZRD1 skos:exactMatch hgnc.symbol:SZRD1 semapv:UnspecifiedMatching +OMIM:620682 SZRD1 skos:exactMatch ncbigene:26099 semapv:UnspecifiedMatching +OMIM:620684 HGH1 skos:exactMatch hgnc.symbol:24161 semapv:UnspecifiedMatching +OMIM:620684 HGH1 skos:exactMatch hgnc.symbol:HGH1 semapv:UnspecifiedMatching +OMIM:620684 HGH1 skos:exactMatch ncbigene:51236 semapv:UnspecifiedMatching +OMIM:620685 C19ORF53 skos:exactMatch hgnc.symbol:24991 semapv:UnspecifiedMatching +OMIM:620685 C19ORF53 skos:exactMatch hgnc.symbol:C19orf53 semapv:UnspecifiedMatching +OMIM:620685 C19ORF53 skos:exactMatch ncbigene:28974 semapv:UnspecifiedMatching +OMIM:620689 LSM14B skos:exactMatch hgnc.symbol:15887 semapv:UnspecifiedMatching +OMIM:620689 LSM14B skos:exactMatch hgnc.symbol:LSM14B semapv:UnspecifiedMatching +OMIM:620689 LSM14B skos:exactMatch ncbigene:149986 semapv:UnspecifiedMatching diff --git a/src/ontology/imports/omo_import.owl b/src/ontology/imports/omo_import.owl index c8520397..75a8cdd6 100644 --- a/src/ontology/imports/omo_import.owl +++ b/src/ontology/imports/omo_import.owl @@ -7,9 +7,9 @@ Prefix(rdfs:=) Ontology( - + Annotation( ) -Annotation(owl:versionInfo "2024-01-24") +Annotation(owl:versionInfo "2024-01-31") Declaration(Class()) Declaration(Class()) diff --git a/src/ontology/imports/ro_import.owl b/src/ontology/imports/ro_import.owl index a7544257..7c6ed330 100644 --- a/src/ontology/imports/ro_import.owl +++ b/src/ontology/imports/ro_import.owl @@ -7,9 +7,9 @@ Prefix(rdfs:=) Ontology( - + Annotation( ) -Annotation(owl:versionInfo "2024-01-24") +Annotation(owl:versionInfo "2024-01-31") Declaration(Class()) Declaration(Class()) diff --git a/src/ontology/lexmatch/README.md b/src/ontology/lexmatch/README.md index c957a12d..7704379a 100644 --- a/src/ontology/lexmatch/README.md +++ b/src/ontology/lexmatch/README.md @@ -19,33 +19,33 @@ * Number of mappings in [`unmapped_ncit_lex_exact`](unmapped_ncit_lex.tsv): 44 * Number of mappings in [`unmapped_ncit_mondo`](mondo-only/unmapped_ncit_mondo.tsv): 26 * Number of mappings in [`unmapped_ncit_mondo_exact`](mondo-only/unmapped_ncit_mondo.tsv): 23 - * Number of mappings in [`unmapped_omim_lex`](unmapped_omim_lex.tsv): 14 - * Number of mappings in [`unmapped_omim_lex_exact`](unmapped_omim_lex.tsv): 5 + * Number of mappings in [`unmapped_omim_lex`](unmapped_omim_lex.tsv): 17 + * Number of mappings in [`unmapped_omim_lex_exact`](unmapped_omim_lex.tsv): 8 * Number of mappings in [`unmapped_omim_mondo`](mondo-only/unmapped_omim_mondo.tsv): 128 * Number of mappings in [`unmapped_omim_mondo_exact`](mondo-only/unmapped_omim_mondo.tsv): 128 * Number of mappings in [`unmapped_ordo_lex`](unmapped_ordo_lex.tsv): 28 * Number of mappings in [`unmapped_ordo_lex_exact`](unmapped_ordo_lex.tsv): 21 - * Number of mappings in [`unmapped_ordo_mondo`](mondo-only/unmapped_ordo_mondo.tsv): 902 - * Number of mappings in [`unmapped_ordo_mondo_exact`](mondo-only/unmapped_ordo_mondo.tsv): 902 + * Number of mappings in [`unmapped_ordo_mondo`](mondo-only/unmapped_ordo_mondo.tsv): 903 + * Number of mappings in [`unmapped_ordo_mondo_exact`](mondo-only/unmapped_ordo_mondo.tsv): 903 ## mondo_XXXXmatch_ontology - * Number of mappings in [`mondo_narrowmatch_icd10who`](split-mapping-set/mondo_narrowmatch_icd10who.tsv): 24 - * Number of mappings in [`mondo_closematch_icd10who`](split-mapping-set/mondo_closematch_icd10who.tsv): 147 - * Number of mappings in [`mondo_exactmatch_icd10who`](split-mapping-set/mondo_exactmatch_icd10who.tsv): 1217 - * Number of mappings in [`mondo_broadmatch_icd10who`](split-mapping-set/mondo_broadmatch_icd10who.tsv): 31 - * Number of mappings in [`mondo_narrowmatch_doid`](split-mapping-set/mondo_narrowmatch_doid.tsv): 1 - * Number of mappings in [`mondo_closematch_doid`](split-mapping-set/mondo_closematch_doid.tsv): 500 - * Number of mappings in [`mondo_exactmatch_doid`](split-mapping-set/mondo_exactmatch_doid.tsv): 195 - * Number of mappings in [`mondo_broadmatch_doid`](split-mapping-set/mondo_broadmatch_doid.tsv): 1 - * Number of mappings in [`mondo_narrowmatch_icd10cm`](split-mapping-set/mondo_narrowmatch_icd10cm.tsv): 57 - * Number of mappings in [`mondo_closematch_icd10cm`](split-mapping-set/mondo_closematch_icd10cm.tsv): 6006 - * Number of mappings in [`mondo_exactmatch_icd10cm`](split-mapping-set/mondo_exactmatch_icd10cm.tsv): 1932 - * Number of mappings in [`mondo_broadmatch_icd10cm`](split-mapping-set/mondo_broadmatch_icd10cm.tsv): 72 - * Number of mappings in [`mondo_closematch_omim`](split-mapping-set/mondo_closematch_omim.tsv): 6 - * Number of mappings in [`mondo_exactmatch_omim`](split-mapping-set/mondo_exactmatch_omim.tsv): 117 - * Number of mappings in [`mondo_closematch_omimps`](split-mapping-set/mondo_closematch_omimps.tsv): 24 - * Number of mappings in [`mondo_exactmatch_omimps`](split-mapping-set/mondo_exactmatch_omimps.tsv): 23 - * Number of mappings in [`mondo_closematch_ncit`](split-mapping-set/mondo_closematch_ncit.tsv): 72 - * Number of mappings in [`mondo_exactmatch_ncit`](split-mapping-set/mondo_exactmatch_ncit.tsv): 110 + * Number of mappings in [`mondo_exactmatch_omim`](split-mapping-set/mondo_exactmatch_omim.tsv): 118 + * Number of mappings in [`mondo_closematch_omim`](split-mapping-set/mondo_closematch_omim.tsv): 7 * Number of mappings in [`mondo_broadmatch_ncit`](split-mapping-set/mondo_broadmatch_ncit.tsv): 10 + * Number of mappings in [`mondo_exactmatch_ncit`](split-mapping-set/mondo_exactmatch_ncit.tsv): 110 + * Number of mappings in [`mondo_closematch_ncit`](split-mapping-set/mondo_closematch_ncit.tsv): 72 + * Number of mappings in [`mondo_broadmatch_doid`](split-mapping-set/mondo_broadmatch_doid.tsv): 1 + * Number of mappings in [`mondo_exactmatch_doid`](split-mapping-set/mondo_exactmatch_doid.tsv): 195 + * Number of mappings in [`mondo_closematch_doid`](split-mapping-set/mondo_closematch_doid.tsv): 500 + * Number of mappings in [`mondo_narrowmatch_doid`](split-mapping-set/mondo_narrowmatch_doid.tsv): 1 + * Number of mappings in [`mondo_exactmatch_omimps`](split-mapping-set/mondo_exactmatch_omimps.tsv): 25 + * Number of mappings in [`mondo_closematch_omimps`](split-mapping-set/mondo_closematch_omimps.tsv): 25 + * Number of mappings in [`mondo_exactmatch_orphanet`](split-mapping-set/mondo_exactmatch_orphanet.tsv): 929 * Number of mappings in [`mondo_closematch_orphanet`](split-mapping-set/mondo_closematch_orphanet.tsv): 68 - * Number of mappings in [`mondo_exactmatch_orphanet`](split-mapping-set/mondo_exactmatch_orphanet.tsv): 928 + * Number of mappings in [`mondo_broadmatch_icd10cm`](split-mapping-set/mondo_broadmatch_icd10cm.tsv): 72 + * Number of mappings in [`mondo_exactmatch_icd10cm`](split-mapping-set/mondo_exactmatch_icd10cm.tsv): 1932 + * Number of mappings in [`mondo_closematch_icd10cm`](split-mapping-set/mondo_closematch_icd10cm.tsv): 6006 + * Number of mappings in [`mondo_narrowmatch_icd10cm`](split-mapping-set/mondo_narrowmatch_icd10cm.tsv): 57 + * Number of mappings in [`mondo_broadmatch_icd10who`](split-mapping-set/mondo_broadmatch_icd10who.tsv): 31 + * Number of mappings in [`mondo_exactmatch_icd10who`](split-mapping-set/mondo_exactmatch_icd10who.tsv): 1217 + * Number of mappings in [`mondo_closematch_icd10who`](split-mapping-set/mondo_closematch_icd10who.tsv): 147 + * Number of mappings in [`mondo_narrowmatch_icd10who`](split-mapping-set/mondo_narrowmatch_icd10who.tsv): 24 diff --git a/src/ontology/lexmatch/all_exact.robot.tsv b/src/ontology/lexmatch/all_exact.robot.tsv index ec1ce2ed..2bcc81a3 100644 --- a/src/ontology/lexmatch/all_exact.robot.tsv +++ b/src/ontology/lexmatch/all_exact.robot.tsv @@ -1,812 +1,14 @@ subject_id predicate_id object_id subject_label object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string ID >A oboInOwl:source A oboInOwl:hasDbXref -MONDO:0000088 MONDO:equivalentTo ICD10WHO:E30.1 precocious puberty Precocious puberty semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label precocious puberty -MONDO:0000245 MONDO:equivalentTo ICD10WHO:B35.5 tinea imbricata Tinea imbricata semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tinea imbricata -MONDO:0000367 MONDO:equivalentTo ICD10WHO:B68 taeniasis Taeniasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label taeniasis -MONDO:0000397 MONDO:equivalentTo ICD10WHO:G80.4 ataxic cerebral palsy Ataxic cerebral palsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ataxic cerebral palsy -MONDO:0000495 MONDO:equivalentTo ICD10WHO:F91.3 oppositional defiant disorder Oppositional defiant disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oppositional defiant disorder -MONDO:0000665 MONDO:equivalentTo ICD10WHO:R48.2 apraxia Apraxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label apraxia -MONDO:0000745 MONDO:equivalentTo ICD10WHO:I46 cardiac arrest Cardiac arrest semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiac arrest -MONDO:0000754 MONDO:equivalentTo ICD10WHO:K60.3 anal fistula Anal fistula semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anal fistula -MONDO:0000755 MONDO:equivalentTo ICD10WHO:O00 ectopic pregnancy Ectopic pregnancy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectopic pregnancy -MONDO:0000819 MONDO:equivalentTo ICD10WHO:Q00.0 anencephaly Anencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anencephaly -MONDO:0000859 MONDO:equivalentTo ICD10WHO:Q76.0 spina bifida occulta Spina bifida occulta semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spina bifida occulta -MONDO:0000889 MONDO:equivalentTo ICD10WHO:G00.0 haemophilus meningitis Haemophilus meningitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label haemophilus meningitis -MONDO:0000923 MONDO:equivalentTo ICD10WHO:J98.2 interstitial emphysema Interstitial emphysema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label interstitial emphysema -MONDO:0000924 MONDO:equivalentTo ICD10WHO:J98.3 compensatory emphysema Compensatory emphysema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label compensatory emphysema -MONDO:0000927 MONDO:equivalentTo ICD10WHO:A52.2 asymptomatic neurosyphilis Asymptomatic neurosyphilis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label asymptomatic neurosyphilis -MONDO:0000983 MONDO:equivalentTo ICD10WHO:F65.2 exhibitionism Exhibitionism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label exhibitionism -MONDO:0000986 MONDO:equivalentTo ICD10WHO:R09.1 pleurisy Pleurisy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pleurisy -MONDO:0000987 MONDO:equivalentTo ICD10WHO:K82.4 cholesterolosis of gallbladder Cholesterolosis of gallbladder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholesterolosis of gallbladder -MONDO:0000990 MONDO:equivalentTo ICD10WHO:I21.4 acute subendocardial myocardial infarction Acute subendocardial myocardial infarction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute subendocardial myocardial infarction -MONDO:0001007 MONDO:equivalentTo ICD10WHO:G03.1 chronic meningitis Chronic meningitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic meningitis -MONDO:0001009 MONDO:equivalentTo ICD10WHO:N60.0 solitary cyst of breast Solitary cyst of breast semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label solitary cyst of breast -MONDO:0001024 MONDO:equivalentTo ICD10WHO:A20.2 pneumonic plague Pneumonic plague semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pneumonic plague -MONDO:0001029 MONDO:equivalentTo ICD10WHO:Q76.1 Klippel-Feil syndrome Klippel-Feil syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label klippel-feil syndrome -MONDO:0001042 MONDO:equivalentTo ICD10WHO:M76.5 patellar tendinitis Patellar tendinitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label patellar tendinitis -MONDO:0001049 MONDO:equivalentTo ICD10WHO:I24.1 Dressler syndrome Dressler syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dressler syndrome -MONDO:0001050 MONDO:equivalentTo ICD10WHO:H60.2 malignant otitis externa Malignant otitis externa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant otitis externa -MONDO:0001078 MONDO:equivalentTo ICD10WHO:K90.1 tropical sprue Tropical sprue semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tropical sprue -MONDO:0001100 MONDO:equivalentTo ICD10WHO:N62 hypertrophy of breast Hypertrophy of breast semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertrophy of breast -MONDO:0001101 MONDO:equivalentTo ICD10WHO:N64.1 fat necrosis of breast Fat necrosis of breast semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fat necrosis of breast -MONDO:0001109 MONDO:equivalentTo ICD10WHO:H70.2 petrositis Petrositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label petrositis -MONDO:0001112 MONDO:equivalentTo ICD10WHO:A20.0 bubonic plague Bubonic plague semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bubonic plague -MONDO:0001120 MONDO:equivalentTo ICD10WHO:J32.1 chronic frontal sinusitis Chronic frontal sinusitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic frontal sinusitis -MONDO:0001122 MONDO:equivalentTo ICD10WHO:J32.0 chronic maxillary sinusitis Chronic maxillary sinusitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic maxillary sinusitis -MONDO:0001123 MONDO:equivalentTo ICD10WHO:J32.3 chronic sphenoidal sinusitis Chronic sphenoidal sinusitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic sphenoidal sinusitis -MONDO:0001126 MONDO:equivalentTo ICD10WHO:K25 gastric ulcer Gastric ulcer semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gastric ulcer -MONDO:0001135 MONDO:equivalentTo ICD10WHO:F65.3 voyeurism Voyeurism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label voyeurism -MONDO:0001143 MONDO:equivalentTo ICD10WHO:H49 paralytic strabismus Paralytic strabismus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paralytic strabismus -MONDO:0001149 MONDO:equivalentTo ICD10WHO:Q02 microcephaly Microcephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly -MONDO:0001150 MONDO:equivalentTo ICD10WHO:G91 hydrocephalus Hydrocephalus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hydrocephalus -MONDO:0001155 MONDO:equivalentTo ICD10WHO:K28 gastrojejunal ulcer Gastrojejunal ulcer semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gastrojejunal ulcer -MONDO:0001157 MONDO:equivalentTo ICD10WHO:F60.7 dependent personality disorder Dependent personality disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dependent personality disorder -MONDO:0001161 MONDO:equivalentTo ICD10WHO:F60.1 schizoid personality disorder Schizoid personality disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label schizoid personality disorder -MONDO:0001163 MONDO:equivalentTo ICD10WHO:F60.0 paranoid personality disorder Paranoid personality disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paranoid personality disorder -MONDO:0001168 MONDO:equivalentTo ICD10WHO:G81.1 spastic hemiplegia Spastic hemiplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic hemiplegia -MONDO:0001170 MONDO:equivalentTo ICD10WHO:G81 hemiplegia Hemiplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemiplegia -MONDO:0001180 MONDO:equivalentTo ICD10WHO:H18.1 bullous keratopathy Bullous keratopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bullous keratopathy -MONDO:0001185 MONDO:equivalentTo ICD10WHO:F44.0 dissociative amnesia Dissociative amnesia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dissociative amnesia -MONDO:0001200 MONDO:equivalentTo ICD10WHO:I15 secondary hypertension Secondary hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary hypertension -MONDO:0001208 MONDO:equivalentTo ICD10WHO:J96.0 acute respiratory failure Acute respiratory failure semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute respiratory failure -MONDO:0001210 MONDO:equivalentTo ICD10WHO:H05.4 enophthalmos Enophthalmos semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label enophthalmos -MONDO:0001216 MONDO:equivalentTo ICD10WHO:K04.2 pulp degeneration Pulp degeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulp degeneration -MONDO:0001218 MONDO:equivalentTo ICD10WHO:J06.0 acute laryngopharyngitis Acute laryngopharyngitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute laryngopharyngitis -MONDO:0001220 MONDO:equivalentTo ICD10WHO:E20 hypoparathyroidism Hypoparathyroidism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypoparathyroidism -MONDO:0001241 MONDO:equivalentTo ICD10WHO:P61.5 transient neonatal neutropenia Transient neonatal neutropenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient neonatal neutropenia -MONDO:0001249 MONDO:equivalentTo ICD10WHO:A71 trachoma Trachoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trachoma -MONDO:0001251 MONDO:equivalentTo ICD10WHO:K04.5 chronic apical periodontitis Chronic apical periodontitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic apical periodontitis -MONDO:0001260 MONDO:equivalentTo ICD10WHO:B65.3 cercarial dermatitis Cercarial dermatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cercarial dermatitis -MONDO:0001266 MONDO:equivalentTo ICD10WHO:A46 erysipelas Erysipelas semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erysipelas -MONDO:0001268 MONDO:equivalentTo ICD10WHO:K06.0 gingival recession Gingival recession semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gingival recession -MONDO:0001274 MONDO:equivalentTo ICD10WHO:K59.4 anal spasm Anal spasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anal spasm -MONDO:0001276 MONDO:equivalentTo ICD10WHO:F80.1 expressive language disorder Expressive language disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label expressive language disorder -MONDO:0001284 MONDO:equivalentTo ICD10WHO:N80.5 endometriosis of intestine Endometriosis of intestine semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label endometriosis of intestine -MONDO:0001285 MONDO:equivalentTo ICD10WHO:N80.3 endometriosis of pelvic peritoneum Endometriosis of pelvic peritoneum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label endometriosis of pelvic peritoneum -MONDO:0001287 MONDO:equivalentTo ICD10WHO:N80.6 endometriosis in cutaneous scar Endometriosis in cutaneous scar semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label endometriosis in cutaneous scar -MONDO:0001288 MONDO:equivalentTo ICD10WHO:N80.4 endometriosis of rectovaginal septum and vagina Endometriosis of rectovaginal septum and vagina semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label endometriosis of rectovaginal septum and vagina -MONDO:0001294 MONDO:equivalentTo ICD10WHO:G90.2 Horner syndrome Horner syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label horner syndrome -MONDO:0001295 MONDO:equivalentTo ICD10WHO:G90.0 idiopathic peripheral autonomic neuropathy Idiopathic peripheral autonomic neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic peripheral autonomic neuropathy -MONDO:0001302 MONDO:equivalentTo ICD10WHO:I11 hypertensive heart disease Hypertensive heart disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertensive heart disease -MONDO:0001312 MONDO:equivalentTo ICD10WHO:H65.0 acute serous otitis media Acute serous otitis media semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute serous otitis media -MONDO:0001316 MONDO:equivalentTo ICD10WHO:G00.2 streptococcal meningitis Streptococcal meningitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label streptococcal meningitis -MONDO:0001330 MONDO:equivalentTo ICD10WHO:H52.4 presbyopia Presbyopia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label presbyopia -MONDO:0001332 MONDO:equivalentTo ICD10WHO:M12.3 palindromic rheumatism Palindromic rheumatism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label palindromic rheumatism -MONDO:0001339 MONDO:equivalentTo ICD10WHO:I81 portal vein thrombosis Portal vein thrombosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label portal vein thrombosis -MONDO:0001349 MONDO:equivalentTo ICD10WHO:K02.4 odontoclasia Odontoclasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label odontoclasia -MONDO:0001367 MONDO:equivalentTo ICD10WHO:D73.2 chronic congestive splenomegaly Chronic congestive splenomegaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic congestive splenomegaly -MONDO:0001369 MONDO:equivalentTo ICD10WHO:J37.0 chronic laryngitis Chronic laryngitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic laryngitis -MONDO:0001382 MONDO:equivalentTo ICD10WHO:K76.7 hepatorenal syndrome Hepatorenal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatorenal syndrome -MONDO:0001383 MONDO:equivalentTo ICD10WHO:H44.2 degenerative myopia Degenerative myopia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label degenerative myopia -MONDO:0001384 MONDO:equivalentTo ICD10WHO:H52.1 myopia Myopia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myopia -MONDO:0001391 MONDO:equivalentTo ICD10WHO:A30.0 indeterminate leprosy Indeterminate leprosy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label indeterminate leprosy -MONDO:0001410 MONDO:equivalentTo ICD10WHO:N95.2 postmenopausal atrophic vaginitis Postmenopausal atrophic vaginitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postmenopausal atrophic vaginitis -MONDO:0001415 MONDO:equivalentTo ICD10WHO:N50.0 atrophy of testis Atrophy of testis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrophy of testis -MONDO:0001443 MONDO:equivalentTo ICD10WHO:H74.0 tympanosclerosis Tympanosclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tympanosclerosis -MONDO:0001444 MONDO:equivalentTo ICD10WHO:B57 Chagas disease Chagas disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chagas disease -MONDO:0001449 MONDO:equivalentTo ICD10WHO:A87.2 lymphocytic choriomeningitis Lymphocytic choriomeningitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphocytic choriomeningitis -MONDO:0001451 MONDO:equivalentTo ICD10WHO:H35.4 peripheral retinal degeneration Peripheral retinal degeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peripheral retinal degeneration -MONDO:0001461 MONDO:equivalentTo ICD10WHO:B35.4 tinea corporis Tinea corporis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tinea corporis -MONDO:0001479 MONDO:equivalentTo ICD10WHO:A36.3 cutaneous diphtheria Cutaneous diphtheria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutaneous diphtheria -MONDO:0001484 MONDO:equivalentTo ICD10WHO:F20.0 paranoid schizophrenia Paranoid schizophrenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paranoid schizophrenia -MONDO:0001492 MONDO:equivalentTo ICD10WHO:I27.1 kyphoscoliotic heart disease Kyphoscoliotic heart disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kyphoscoliotic heart disease -MONDO:0001505 MONDO:equivalentTo ICD10WHO:K70.1 alcoholic hepatitis Alcoholic hepatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alcoholic hepatitis -MONDO:0001506 MONDO:equivalentTo ICD10WHO:N41.3 prostatocystitis Prostatocystitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prostatocystitis -MONDO:0001508 MONDO:equivalentTo ICD10WHO:H69.0 patulous eustachian tube Patulous Eustachian tube semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label patulous eustachian tube -MONDO:0001515 MONDO:equivalentTo ICD10WHO:H18.4 corneal degeneration Corneal degeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corneal degeneration -MONDO:0001540 MONDO:equivalentTo ICD10WHO:J67.1 bagassosis Bagassosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bagassosis -MONDO:0001543 MONDO:equivalentTo ICD10WHO:G57.0 lesion of sciatic nerve Lesion of sciatic nerve semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lesion of sciatic nerve -MONDO:0001551 MONDO:equivalentTo ICD10WHO:N76.6 ulceration of vulva Ulceration of vulva semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ulceration of vulva -MONDO:0001557 MONDO:equivalentTo ICD10WHO:M70.2 olecranon bursitis Olecranon bursitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label olecranon bursitis -MONDO:0001583 MONDO:equivalentTo ICD10WHO:G63.2 diabetic polyneuropathy Diabetic polyneuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diabetic polyneuropathy -MONDO:0001600 MONDO:equivalentTo ICD10WHO:K11.6 mucocele of salivary gland Mucocele of salivary gland semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucocele of salivary gland -MONDO:0001601 MONDO:equivalentTo ICD10WHO:B53.0 Plasmodium ovale malaria Plasmodium ovale malaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label plasmodium ovale malaria -MONDO:0001604 MONDO:equivalentTo ICD10WHO:H02.2 lagophthalmos Lagophthalmos semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lagophthalmos -MONDO:0001616 MONDO:equivalentTo ICD10WHO:B48.0 lobomycosis Lobomycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lobomycosis -MONDO:0001617 MONDO:equivalentTo ICD10WHO:G45.4 transient global amnesia Transient global amnesia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient global amnesia -MONDO:0001618 MONDO:equivalentTo ICD10WHO:N48.1 balanoposthitis Balanoposthitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label balanoposthitis -MONDO:0001620 MONDO:equivalentTo ICD10WHO:A68.0 louse-borne relapsing fever Louse-borne relapsing fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label louse-borne relapsing fever -MONDO:0001621 MONDO:equivalentTo ICD10WHO:A68.1 tick-borne relapsing fever Tick-borne relapsing fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tick-borne relapsing fever -MONDO:0001624 MONDO:equivalentTo ICD10WHO:J01.3 acute sphenoidal sinusitis Acute sphenoidal sinusitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute sphenoidal sinusitis -MONDO:0001625 MONDO:equivalentTo ICD10WHO:N83.1 corpus luteum cyst Corpus luteum cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corpus luteum cyst -MONDO:0001628 MONDO:equivalentTo ICD10WHO:B35.1 tinea unguium Tinea unguium semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tinea unguium -MONDO:0001633 MONDO:equivalentTo ICD10WHO:H34.1 central retinal artery occlusion Central retinal artery occlusion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central retinal artery occlusion -MONDO:0001641 MONDO:equivalentTo ICD10WHO:O14.1 severe pre-eclampsia Severe pre-eclampsia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe pre-eclampsia -MONDO:0001650 MONDO:equivalentTo ICD10WHO:N30.0 acute cystitis Acute cystitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute cystitis -MONDO:0001687 MONDO:equivalentTo ICD10WHO:H28.0 diabetic cataract Diabetic cataract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diabetic cataract -MONDO:0001689 MONDO:equivalentTo ICD10WHO:K14.3 hypertrophy of tongue papillae Hypertrophy of tongue papillae semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertrophy of tongue papillae -MONDO:0001699 MONDO:equivalentTo ICD10WHO:B35.2 tinea manuum Tinea manuum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tinea manuum -MONDO:0001701 MONDO:equivalentTo ICD10WHO:A22.2 gastrointestinal anthrax Gastrointestinal anthrax semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gastrointestinal anthrax -MONDO:0001710 MONDO:equivalentTo ICD10WHO:K83.2 perforation of bile duct Perforation of bile duct semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label perforation of bile duct -MONDO:0001718 MONDO:equivalentTo ICD10WHO:H15.0 scleritis Scleritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scleritis -MONDO:0001719 MONDO:equivalentTo ICD10WHO:M73.0 gonococcal bursitis Gonococcal bursitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gonococcal bursitis -MONDO:0001732 MONDO:equivalentTo ICD10WHO:N30.3 trigonitis Trigonitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trigonitis -MONDO:0001734 MONDO:equivalentTo ICD10WHO:Q85.1 tuberous sclerosis Tuberous sclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tuberous sclerosis -MONDO:0001736 MONDO:equivalentTo ICD10WHO:P39.0 neonatal infective mastitis Neonatal infective mastitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal infective mastitis -MONDO:0001737 MONDO:equivalentTo ICD10WHO:A33 tetanus neonatorum Tetanus neonatorum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetanus neonatorum -MONDO:0001753 MONDO:equivalentTo ICD10WHO:N97.2 female infertility of uterine origin Female infertility of uterine origin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label female infertility of uterine origin -MONDO:0001754 MONDO:equivalentTo ICD10WHO:O15 eclampsia Eclampsia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eclampsia -MONDO:0001772 MONDO:equivalentTo ICD10WHO:K62.6 ulcer of anus and rectum Ulcer of anus and rectum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ulcer of anus and rectum -MONDO:0001780 MONDO:equivalentTo ICD10WHO:F52.4 premature ejaculation Premature ejaculation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label premature ejaculation -MONDO:0001797 MONDO:equivalentTo ICD10WHO:A57 chancroid Chancroid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chancroid -MONDO:0001798 MONDO:equivalentTo ICD10WHO:M35.7 hypermobility syndrome Hypermobility syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypermobility syndrome -MONDO:0001823 MONDO:equivalentTo ICD10WHO:I49.5 sick sinus syndrome Sick sinus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sick sinus syndrome -MONDO:0001827 MONDO:equivalentTo ICD10WHO:B36.2 white piedra White piedra semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label white piedra -MONDO:0001830 MONDO:equivalentTo ICD10WHO:F45.0 somatization disorder Somatization disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label somatization disorder -MONDO:0001859 MONDO:equivalentTo ICD10WHO:M89.0 algoneurodystrophy Algoneurodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label algoneurodystrophy -MONDO:0001868 MONDO:equivalentTo ICD10WHO:H40.2 primary angle-closure glaucoma Primary angle-closure glaucoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary angle-closure glaucoma -MONDO:0001873 MONDO:equivalentTo ICD10WHO:G51.1 geniculate ganglionitis Geniculate ganglionitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label geniculate ganglionitis -MONDO:0001880 MONDO:equivalentTo ICD10WHO:K14.2 median rhomboid glossitis Median rhomboid glossitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label median rhomboid glossitis -MONDO:0001881 MONDO:equivalentTo ICD10WHO:A48.3 toxic shock syndrome Toxic shock syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toxic shock syndrome -MONDO:0001889 MONDO:equivalentTo ICD10WHO:E28 ovarian dysfunction Ovarian dysfunction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ovarian dysfunction -MONDO:0001896 MONDO:equivalentTo ICD10WHO:G91.1 obstructive hydrocephalus Obstructive hydrocephalus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label obstructive hydrocephalus -MONDO:0001903 MONDO:equivalentTo ICD10WHO:M65.2 calcific tendinitis Calcific tendinitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label calcific tendinitis -MONDO:0001912 MONDO:equivalentTo ICD10WHO:J01.1 acute frontal sinusitis Acute frontal sinusitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute frontal sinusitis -MONDO:0001927 MONDO:equivalentTo ICD10WHO:I37.1 pulmonary valve insufficiency Pulmonary valve insufficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary valve insufficiency -MONDO:0001942 MONDO:equivalentTo ICD10WHO:F41.1 generalized anxiety disorder Generalized anxiety disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label generalized anxiety disorder -MONDO:0001943 MONDO:equivalentTo ICD10WHO:B52 Plasmodium malariae malaria Plasmodium malariae malaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label plasmodium malariae malaria -MONDO:0001949 MONDO:equivalentTo ICD10WHO:E06.0 acute thyroiditis Acute thyroiditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute thyroiditis -MONDO:0001954 MONDO:equivalentTo ICD10WHO:I82.1 thrombophlebitis migrans Thrombophlebitis migrans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thrombophlebitis migrans -MONDO:0001964 MONDO:equivalentTo ICD10WHO:H66.1 chronic tubotympanic suppurative otitis media Chronic tubotympanic suppurative otitis media semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic tubotympanic suppurative otitis media -MONDO:0001999 MONDO:equivalentTo ICD10WHO:I27.0 primary pulmonary hypertension Primary pulmonary hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary pulmonary hypertension -MONDO:0002008 MONDO:equivalentTo ICD10WHO:H83.0 labyrinthitis Labyrinthitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label labyrinthitis -MONDO:0002026 MONDO:equivalentTo ICD10WHO:B37 candidiasis Candidiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label candidiasis -MONDO:0002045 MONDO:equivalentTo ICD10WHO:G91.0 communicating hydrocephalus Communicating hydrocephalus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label communicating hydrocephalus -MONDO:0002070 MONDO:equivalentTo ICD10WHO:Q21.0 ventricular septal defect Ventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ventricular septal defect -MONDO:0002075 MONDO:equivalentTo ICD10WHO:J93.0 spontaneous tension pneumothorax Spontaneous tension pneumothorax semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spontaneous tension pneumothorax -MONDO:0002076 MONDO:equivalentTo ICD10WHO:J93 pneumothorax Pneumothorax semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pneumothorax -MONDO:0002125 MONDO:equivalentTo ICD10WHO:G41 status epilepticus Status epilepticus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label status epilepticus -MONDO:0002127 MONDO:equivalentTo ICD10WHO:N35 urethral stricture Urethral stricture semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label urethral stricture -MONDO:0002128 MONDO:equivalentTo ICD10WHO:G58.7 mononeuritis multiplex Mononeuritis multiplex semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mononeuritis multiplex -MONDO:0002133 MONDO:equivalentTo ICD10WHO:I09.2 chronic rheumatic pericarditis Chronic rheumatic pericarditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic rheumatic pericarditis -MONDO:0002137 MONDO:equivalentTo ICD10WHO:H01.1 noninfectious dermatoses of eyelid Noninfectious dermatoses of eyelid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noninfectious dermatoses of eyelid -MONDO:0002153 MONDO:equivalentTo ICD10WHO:L65.0 telogen effluvium Telogen effluvium semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label telogen effluvium -MONDO:0002154 MONDO:equivalentTo ICD10WHO:A59 trichomoniasis Trichomoniasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichomoniasis -MONDO:0002155 MONDO:equivalentTo ICD10WHO:K81 cholecystitis Cholecystitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholecystitis -MONDO:0002175 MONDO:equivalentTo ICD10WHO:H35.3 degeneration of macula and posterior pole Degeneration of macula and posterior pole semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label degeneration of macula and posterior pole -MONDO:0002186 MONDO:equivalentTo ICD10WHO:J01.0 acute maxillary sinusitis Acute maxillary sinusitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute maxillary sinusitis -MONDO:0002196 MONDO:equivalentTo ICD10WHO:P78.0 perinatal intestinal perforation Perinatal intestinal perforation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label perinatal intestinal perforation -MONDO:0002253 MONDO:equivalentTo ICD10WHO:M47 spondylosis Spondylosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylosis -MONDO:0002307 MONDO:equivalentTo ICD10WHO:H10.5 blepharoconjunctivitis Blepharoconjunctivitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blepharoconjunctivitis -MONDO:0002314 MONDO:equivalentTo ICD10WHO:H10.4 chronic conjunctivitis Chronic conjunctivitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic conjunctivitis -MONDO:0002342 MONDO:equivalentTo ICD10WHO:M94.2 chondromalacia Chondromalacia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chondromalacia -MONDO:0002419 MONDO:equivalentTo ICD10WHO:F95.0 transient tic disorder Transient tic disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient tic disorder -MONDO:0002473 MONDO:equivalentTo ICD10WHO:Q61 cystic kidney disease Cystic kidney disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cystic kidney disease -MONDO:0002594 MONDO:equivalentTo ICD10WHO:B04 monkeypox Monkeypox semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monkeypox -MONDO:0002613 MONDO:equivalentTo ICD10WHO:F60.4 histrionic personality disorder Histrionic personality disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label histrionic personality disorder -MONDO:0002660 MONDO:equivalentTo ICD10WHO:H02.3 blepharochalasis Blepharochalasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blepharochalasis -MONDO:0002679 MONDO:equivalentTo ICD10WHO:I63 cerebral infarction Cerebral infarction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebral infarction -MONDO:0002754 MONDO:equivalentTo ICD10WHO:C90.2 extramedullary plasmacytoma Extramedullary plasmacytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extramedullary plasmacytoma -MONDO:0002815 MONDO:equivalentTo ICD10WHO:I40 acute myocarditis Acute myocarditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myocarditis -MONDO:0002885 MONDO:equivalentTo ICD10WHO:L08.1 erythrasma Erythrasma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythrasma -MONDO:0002922 MONDO:equivalentTo ICD10WHO:L08.0 pyoderma Pyoderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyoderma -MONDO:0002959 MONDO:equivalentTo ICD10WHO:M54.1 radiculopathy Radiculopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radiculopathy -MONDO:0003009 MONDO:equivalentTo ICD10WHO:E26 hyperaldosteronism Hyperaldosteronism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperaldosteronism -MONDO:0003040 MONDO:equivalentTo ICD10WHO:R41.2 retrograde amnesia Retrograde amnesia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retrograde amnesia -MONDO:0003085 MONDO:equivalentTo ICD10WHO:H16 keratitis Keratitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratitis -MONDO:0003231 MONDO:equivalentTo ICD10WHO:A80.4 acute nonparalytic poliomyelitis Acute nonparalytic poliomyelitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute nonparalytic poliomyelitis -MONDO:0003233 MONDO:equivalentTo ICD10WHO:G25.0 essential tremor Essential tremor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label essential tremor -MONDO:0003398 MONDO:equivalentTo ICD10WHO:R41.1 anterograde amnesia Anterograde amnesia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anterograde amnesia -MONDO:0003417 MONDO:equivalentTo ICD10WHO:H51.2 internuclear ophthalmoplegia Internuclear ophthalmoplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label internuclear ophthalmoplegia -MONDO:0003608 MONDO:equivalentTo ICD10WHO:H47.2 optic atrophy Optic atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label optic atrophy -MONDO:0003709 MONDO:equivalentTo ICD10WHO:F40.0 agoraphobia Agoraphobia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label agoraphobia -MONDO:0003799 MONDO:equivalentTo ICD10WHO:H10 conjunctivitis Conjunctivitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label conjunctivitis -MONDO:0004126 MONDO:equivalentTo ICD10WHO:E06 thyroiditis Thyroiditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyroiditis -MONDO:0004215 MONDO:equivalentTo ICD10WHO:A22.0 cutaneous anthrax Cutaneous anthrax semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutaneous anthrax -MONDO:0004223 MONDO:equivalentTo ICD10WHO:H74.4 polyp of middle ear Polyp of middle ear semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyp of middle ear -MONDO:0004514 MONDO:equivalentTo ICD10WHO:J31.0 chronic rhinitis Chronic rhinitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic rhinitis -MONDO:0004522 MONDO:equivalentTo ICD10WHO:K65 peritonitis Peritonitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peritonitis -MONDO:0004525 MONDO:equivalentTo ICD10WHO:B86 scabies Scabies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scabies -MONDO:0004568 MONDO:equivalentTo ICD10WHO:K56.0 paralytic ileus Paralytic ileus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paralytic ileus -MONDO:0004577 MONDO:equivalentTo ICD10WHO:H16.0 corneal ulcer Corneal ulcer semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corneal ulcer -MONDO:0004582 MONDO:equivalentTo ICD10WHO:I09.0 rheumatic myocarditis Rheumatic myocarditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rheumatic myocarditis -MONDO:0004585 MONDO:equivalentTo ICD10WHO:O40 polyhydramnios Polyhydramnios semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyhydramnios -MONDO:0004586 MONDO:equivalentTo ICD10WHO:J99.0 rheumatoid lung disease Rheumatoid lung disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rheumatoid lung disease -MONDO:0004586 MONDO:equivalentTo ICD10WHO:M05.1 rheumatoid lung disease Rheumatoid lung disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rheumatoid lung disease -MONDO:0004588 MONDO:equivalentTo ICD10WHO:H53.6 night blindness Night blindness semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label night blindness -MONDO:0004592 MONDO:equivalentTo ICD10WHO:L01 impetigo Impetigo semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label impetigo -MONDO:0004619 MONDO:equivalentTo ICD10WHO:B05 measles Measles semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label measles -MONDO:0004627 MONDO:equivalentTo ICD10WHO:K29.8 duodenitis Duodenitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label duodenitis -MONDO:0004640 MONDO:equivalentTo ICD10WHO:K29.2 alcoholic gastritis Alcoholic gastritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alcoholic gastritis -MONDO:0004648 MONDO:equivalentTo ICD10WHO:F01 vascular dementia Vascular dementia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vascular dementia -MONDO:0004651 MONDO:equivalentTo ICD10WHO:B03 smallpox Smallpox semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label smallpox -MONDO:0004665 MONDO:equivalentTo ICD10WHO:C81.1 nodular sclerosis classical Hodgkin lymphoma Nodular sclerosis classical Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nodular sclerosis classical hodgkin lymphoma -MONDO:0004668 MONDO:equivalentTo ICD10WHO:B66.3 fascioliasis Fascioliasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fascioliasis -MONDO:0004670 MONDO:equivalentTo ICD10WHO:L93 lupus erythematosus Lupus erythematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lupus erythematosus -MONDO:0004672 MONDO:equivalentTo ICD10WHO:B66.5 fasciolopsiasis Fasciolopsiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fasciolopsiasis -MONDO:0004677 MONDO:equivalentTo ICD10WHO:B36.1 tinea nigra Tinea nigra semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tinea nigra -MONDO:0004678 MONDO:equivalentTo ICD10WHO:B35 dermatophytosis Dermatophytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dermatophytosis -MONDO:0004679 MONDO:equivalentTo ICD10WHO:N89.4 leukoplakia of vagina Leukoplakia of vagina semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukoplakia of vagina -MONDO:0004717 MONDO:equivalentTo ICD10WHO:K76.4 peliosis hepatis Peliosis hepatis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peliosis hepatis -MONDO:0004745 MONDO:equivalentTo ICD10WHO:N48.3 priapism Priapism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label priapism -MONDO:0004747 MONDO:equivalentTo ICD10WHO:Q36 cleft lip Cleft lip semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft lip -MONDO:0004753 MONDO:equivalentTo ICD10WHO:H50.6 mechanical strabismus Mechanical strabismus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mechanical strabismus -MONDO:0004754 MONDO:equivalentTo ICD10WHO:K62.3 rectal prolapse Rectal prolapse semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rectal prolapse -MONDO:0004757 MONDO:equivalentTo ICD10WHO:J32.2 chronic ethmoidal sinusitis Chronic ethmoidal sinusitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic ethmoidal sinusitis -MONDO:0004766 MONDO:equivalentTo ICD10WHO:J46 status asthmaticus Status asthmaticus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label status asthmaticus -MONDO:0004768 MONDO:equivalentTo ICD10WHO:H16.2 keratoconjunctivitis Keratoconjunctivitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratoconjunctivitis -MONDO:0004773 MONDO:equivalentTo ICD10WHO:H20 iridocyclitis Iridocyclitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label iridocyclitis -MONDO:0004775 MONDO:equivalentTo ICD10WHO:H20.2 lens-induced iridocyclitis Lens-induced iridocyclitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lens-induced iridocyclitis -MONDO:0004777 MONDO:equivalentTo ICD10WHO:J04.0 acute laryngitis Acute laryngitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute laryngitis -MONDO:0004781 MONDO:equivalentTo ICD10WHO:I21 acute myocardial infarction Acute myocardial infarction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myocardial infarction -MONDO:0004782 MONDO:equivalentTo ICD10WHO:E23.2 diabetes insipidus Diabetes insipidus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diabetes insipidus -MONDO:0004785 MONDO:equivalentTo ICD10WHO:H01.0 blepharitis Blepharitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blepharitis -MONDO:0004789 MONDO:equivalentTo ICD10WHO:K83.0 cholangitis Cholangitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholangitis -MONDO:0004795 MONDO:equivalentTo ICD10WHO:H60 otitis externa Otitis externa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label otitis externa -MONDO:0004804 MONDO:equivalentTo ICD10WHO:H04.0 dacryoadenitis Dacryoadenitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dacryoadenitis -MONDO:0004808 MONDO:equivalentTo ICD10WHO:N60 benign mammary dysplasia Benign mammary dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign mammary dysplasia -MONDO:0004822 MONDO:equivalentTo ICD10WHO:J47 bronchiectasis Bronchiectasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bronchiectasis -MONDO:0004824 MONDO:equivalentTo ICD10WHO:P37.5 neonatal candidiasis Neonatal candidiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal candidiasis -MONDO:0004835 MONDO:equivalentTo ICD10WHO:M72.6 necrotizing fasciitis Necrotizing fasciitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label necrotizing fasciitis -MONDO:0004847 MONDO:equivalentTo ICD10WHO:H25 senile cataract Senile cataract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label senile cataract -MONDO:0004859 MONDO:equivalentTo ICD10WHO:K82.1 hydrops of gallbladder Hydrops of gallbladder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hydrops of gallbladder -MONDO:0004863 MONDO:equivalentTo ICD10WHO:H44.0 purulent endophthalmitis Purulent endophthalmitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label purulent endophthalmitis -MONDO:0004869 MONDO:equivalentTo ICD10WHO:I86.2 pelvic varices Pelvic varices semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pelvic varices -MONDO:0004877 MONDO:equivalentTo ICD10WHO:P61.0 transient neonatal thrombocytopenia Transient neonatal thrombocytopenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient neonatal thrombocytopenia -MONDO:0004911 MONDO:equivalentTo ICD10WHO:A52.0 cardiovascular syphilis Cardiovascular syphilis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiovascular syphilis -MONDO:0004911 MONDO:equivalentTo ICD10WHO:I98.0 cardiovascular syphilis Cardiovascular syphilis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiovascular syphilis -MONDO:0004919 MONDO:equivalentTo ICD10WHO:N43.1 infected hydrocele Infected hydrocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infected hydrocele -MONDO:0004933 MONDO:equivalentTo ICD10WHO:Q23.4 hypoplastic left heart syndrome Hypoplastic left heart syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypoplastic left heart syndrome -MONDO:0004937 MONDO:equivalentTo ICD10WHO:E67.3 hypervitaminosis D Hypervitaminosis D semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypervitaminosis d -MONDO:0004975 MONDO:equivalentTo ICD10WHO:G30 Alzheimer disease Alzheimer disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alzheimer disease -MONDO:0004977 MONDO:equivalentTo ICD10WHO:C86.5 angioimmunoblastic T-cell lymphoma Angioimmunoblastic T-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angioimmunoblastic t-cell lymphoma -MONDO:0004979 MONDO:equivalentTo ICD10WHO:J45 asthma Asthma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label asthma -MONDO:0004994 MONDO:equivalentTo ICD10WHO:I42 cardiomyopathy Cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiomyopathy -MONDO:0005009 MONDO:equivalentTo ICD10WHO:I50.0 congestive heart failure Congestive heart failure semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congestive heart failure -MONDO:0005015 MONDO:equivalentTo ICD10WHO:E10-E14 diabetes mellitus Diabetes mellitus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diabetes mellitus -MONDO:0005021 MONDO:equivalentTo ICD10WHO:I42.0 dilated cardiomyopathy Dilated cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dilated cardiomyopathy -MONDO:0005041 MONDO:equivalentTo ICD10WHO:H40 glaucoma Glaucoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glaucoma -MONDO:0005041 MONDO:equivalentTo ICD10WHO:H40-H42 glaucoma Glaucoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glaucoma -MONDO:0005052 MONDO:equivalentTo ICD10WHO:K58 irritable bowel syndrome Irritable bowel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label irritable bowel syndrome -MONDO:0005065 MONDO:equivalentTo ICD10WHO:C45 mesothelioma Mesothelioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mesothelioma -MONDO:0005080 MONDO:equivalentTo ICD10WHO:K76.6 portal hypertension Portal hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label portal hypertension -MONDO:0005083 MONDO:equivalentTo ICD10WHO:L40 psoriasis Psoriasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label psoriasis -MONDO:0005085 MONDO:equivalentTo ICD10WHO:H11.0 pterygium Pterygium semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pterygium -MONDO:0005090 MONDO:equivalentTo ICD10WHO:F20 schizophrenia Schizophrenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label schizophrenia -MONDO:0005100 MONDO:equivalentTo ICD10WHO:M34 systemic sclerosis Systemic sclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label systemic sclerosis -MONDO:0005101 MONDO:equivalentTo ICD10WHO:K51 ulcerative colitis Ulcerative colitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ulcerative colitis -MONDO:0005125 MONDO:equivalentTo ICD10WHO:A30.3 borderline leprosy Borderline leprosy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label borderline leprosy -MONDO:0005126 MONDO:equivalentTo ICD10WHO:A30.1 tuberculoid leprosy Tuberculoid leprosy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tuberculoid leprosy -MONDO:0005127 MONDO:equivalentTo ICD10WHO:A30.5 lepromatous leprosy Lepromatous leprosy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lepromatous leprosy -MONDO:0005133 MONDO:equivalentTo ICD10WHO:N80 endometriosis Endometriosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label endometriosis -MONDO:0005146 MONDO:equivalentTo ICD10WHO:F43.1 post-traumatic stress disorder Post-traumatic stress disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label post-traumatic stress disorder -MONDO:0005147 MONDO:equivalentTo ICD10WHO:E10 type 1 diabetes mellitus Type 1 diabetes mellitus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label type 1 diabetes mellitus -MONDO:0005148 MONDO:equivalentTo ICD10WHO:E11 type 2 diabetes mellitus Type 2 diabetes mellitus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label type 2 diabetes mellitus -MONDO:0005152 MONDO:equivalentTo ICD10WHO:E23.0 hypopituitarism Hypopituitarism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypopituitarism -MONDO:0005173 MONDO:equivalentTo ICD10WHO:L57.0 actinic keratosis Actinic keratosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label actinic keratosis -MONDO:0005180 MONDO:equivalentTo ICD10WHO:G20 Parkinson disease Parkinson disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label parkinson disease -MONDO:0005181 MONDO:equivalentTo ICD10WHO:H49.4 progressive external ophthalmoplegia Progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive external ophthalmoplegia -MONDO:0005230 MONDO:equivalentTo ICD10WHO:L03 cellulitis Cellulitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cellulitis -MONDO:0005246 MONDO:equivalentTo ICD10WHO:M86 osteomyelitis Osteomyelitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteomyelitis -MONDO:0005252 MONDO:equivalentTo ICD10WHO:I50 heart failure Heart failure semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label heart failure -MONDO:0005259 MONDO:equivalentTo ICD10WHO:F84.5 Asperger syndrome Asperger syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label asperger syndrome -MONDO:0005266 MONDO:equivalentTo ICD10WHO:H36.0 diabetic retinopathy Diabetic retinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diabetic retinopathy -MONDO:0005276 MONDO:equivalentTo ICD10WHO:K02 dental caries Dental caries semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dental caries -MONDO:0005279 MONDO:equivalentTo ICD10WHO:I26 pulmonary embolism Pulmonary embolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary embolism -MONDO:0005300 MONDO:equivalentTo ICD10WHO:N18 chronic kidney disease Chronic kidney disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic kidney disease -MONDO:0005301 MONDO:equivalentTo ICD10WHO:G35 multiple sclerosis Multiple sclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple sclerosis -MONDO:0005306 MONDO:equivalentTo ICD10WHO:M45 ankylosing spondylitis Ankylosing spondylitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ankylosing spondylitis -MONDO:0005311 MONDO:equivalentTo ICD10WHO:I70 atherosclerosis Atherosclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atherosclerosis -MONDO:0005326 MONDO:equivalentTo ICD10WHO:L55 sunburn Sunburn semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sunburn -MONDO:0005340 MONDO:equivalentTo ICD10WHO:L63 alopecia areata Alopecia areata semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alopecia areata -MONDO:0005345 MONDO:equivalentTo ICD10WHO:Q54 hypospadias Hypospadias semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypospadias -MONDO:0005349 MONDO:equivalentTo ICD10WHO:H80 otosclerosis Otosclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label otosclerosis -MONDO:0005351 MONDO:equivalentTo ICD10WHO:F50.0 anorexia nervosa Anorexia nervosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anorexia nervosa -MONDO:0005372 MONDO:equivalentTo ICD10WHO:N46 male infertility Male infertility semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label male infertility -MONDO:0005373 MONDO:equivalentTo ICD10WHO:A39 meningococcal infection Meningococcal infection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label meningococcal infection -MONDO:0005377 MONDO:equivalentTo ICD10WHO:N04 nephrotic syndrome Nephrotic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nephrotic syndrome -MONDO:0005380 MONDO:equivalentTo ICD10WHO:M87 osteonecrosis Osteonecrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteonecrosis -MONDO:0005387 MONDO:equivalentTo ICD10WHO:E28.3 primary ovarian failure Primary ovarian failure semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary ovarian failure -MONDO:0005392 MONDO:equivalentTo ICD10WHO:M41 scoliosis Scoliosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scoliosis -MONDO:0005393 MONDO:equivalentTo ICD10WHO:M10 gout Gout semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gout -MONDO:0005412 MONDO:equivalentTo ICD10WHO:K26 duodenal ulcer Duodenal ulcer semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label duodenal ulcer -MONDO:0005445 MONDO:equivalentTo ICD10WHO:B55.0 visceral leishmaniasis Visceral leishmaniasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label visceral leishmaniasis -MONDO:0005446 MONDO:equivalentTo ICD10WHO:B55.1 cutaneous leishmaniasis Cutaneous leishmaniasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutaneous leishmaniasis -MONDO:0005452 MONDO:equivalentTo ICD10WHO:F50.2 bulimia nervosa Bulimia nervosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bulimia nervosa -MONDO:0005469 MONDO:equivalentTo ICD10WHO:I95.1 orthostatic hypotension Orthostatic hypotension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label orthostatic hypotension -MONDO:0005477 MONDO:equivalentTo ICD10WHO:I47.2 ventricular tachycardia Ventricular tachycardia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ventricular tachycardia -MONDO:0005492 MONDO:equivalentTo ICD10WHO:L50 urticaria Urticaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label urticaria -MONDO:0005498 MONDO:equivalentTo ICD10WHO:A05.1 botulism Botulism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label botulism -MONDO:0005504 MONDO:equivalentTo ICD10WHO:A36 diphtheria Diphtheria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diphtheria -MONDO:0005527 MONDO:equivalentTo ICD10WHO:G92 toxic encephalopathy Toxic encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toxic encephalopathy -MONDO:0005541 MONDO:equivalentTo ICD10WHO:M43.0 spondylolysis Spondylolysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylolysis -MONDO:0005546 MONDO:equivalentTo ICD10WHO:M79.7 fibromyalgia Fibromyalgia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibromyalgia -MONDO:0005593 MONDO:equivalentTo ICD10WHO:K05.3 chronic periodontitis Chronic periodontitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic periodontitis -MONDO:0005619 MONDO:equivalentTo ICD10WHO:A01.0 typhoid fever Typhoid fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label typhoid fever -MONDO:0005620 MONDO:equivalentTo ICD10WHO:I68.0 cerebral amyloid angiopathy Cerebral amyloid angiopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebral amyloid angiopathy -MONDO:0005631 MONDO:equivalentTo ICD10WHO:A42 actinomycosis Actinomycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label actinomycosis -MONDO:0005638 MONDO:equivalentTo ICD10WHO:R48.1 agnosia Agnosia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label agnosia -MONDO:0005645 MONDO:equivalentTo ICD10WHO:B76.0 ancylostomiasis Ancylostomiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ancylostomiasis -MONDO:0005654 MONDO:equivalentTo ICD10WHO:B77 ascariasis Ascariasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ascariasis -MONDO:0005657 MONDO:equivalentTo ICD10WHO:B44 aspergillosis Aspergillosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aspergillosis -MONDO:0005661 MONDO:equivalentTo ICD10WHO:B60.0 babesiosis Babesiosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label babesiosis -MONDO:0005662 MONDO:equivalentTo ICD10WHO:A07.0 balantidiasis Balantidiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label balantidiasis -MONDO:0005664 MONDO:equivalentTo ICD10WHO:A44 bartonellosis Bartonellosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bartonellosis -MONDO:0005669 MONDO:equivalentTo ICD10WHO:B36.3 black piedra Black piedra semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label black piedra -MONDO:0005672 MONDO:equivalentTo ICD10WHO:B40 blastomycosis Blastomycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blastomycosis -MONDO:0005683 MONDO:equivalentTo ICD10WHO:A23 brucellosis Brucellosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brucellosis -MONDO:0005692 MONDO:equivalentTo ICD10WHO:A28.1 cat-scratch disease Cat-scratch disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cat-scratch disease -MONDO:0005693 MONDO:equivalentTo ICD10WHO:G83.4 cauda equina syndrome Cauda equina syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cauda equina syndrome -MONDO:0005699 MONDO:equivalentTo ICD10WHO:A42.2 cervicofacial actinomycosis Cervicofacial actinomycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cervicofacial actinomycosis -MONDO:0005705 MONDO:equivalentTo ICD10WHO:B66.1 clonorchiasis Clonorchiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label clonorchiasis -MONDO:0005706 MONDO:equivalentTo ICD10WHO:B38 coccidioidomycosis Coccidioidomycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coccidioidomycosis -MONDO:0005708 MONDO:equivalentTo ICD10WHO:A93.2 Colorado tick fever Colorado tick fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label colorado tick fever -MONDO:0005711 MONDO:equivalentTo ICD10WHO:Q79.0 congenital diaphragmatic hernia Congenital diaphragmatic hernia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital diaphragmatic hernia -MONDO:0005714 MONDO:equivalentTo ICD10WHO:A50 congenital syphilis Congenital syphilis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital syphilis -MONDO:0005715 MONDO:equivalentTo ICD10WHO:P37.1 congenital toxoplasmosis Congenital toxoplasmosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital toxoplasmosis -MONDO:0005724 MONDO:equivalentTo ICD10WHO:B45 cryptococcosis Cryptococcosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cryptococcosis -MONDO:0005729 MONDO:equivalentTo ICD10WHO:B66.2 dicrocoeliasis Dicrocoeliasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dicrocoeliasis -MONDO:0005736 MONDO:equivalentTo ICD10WHO:A83.2 eastern equine encephalitis Eastern equine encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eastern equine encephalitis -MONDO:0005738 MONDO:equivalentTo ICD10WHO:B67 echinococcosis Echinococcosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label echinococcosis -MONDO:0005746 MONDO:equivalentTo ICD10WHO:B80 enterobiasis Enterobiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label enterobiasis -MONDO:0005767 MONDO:equivalentTo ICD10WHO:A48.0 gas gangrene Gas gangrene semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gas gangrene -MONDO:0005771 MONDO:equivalentTo ICD10WHO:K14.1 geographic tongue Geographic tongue semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label geographic tongue -MONDO:0005772 MONDO:equivalentTo ICD10WHO:B48.3 geotrichosis Geotrichosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label geotrichosis -MONDO:0005774 MONDO:equivalentTo ICD10WHO:A24.0 glanders Glanders semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glanders -MONDO:0005777 MONDO:equivalentTo ICD10WHO:A58 granuloma inguinale Granuloma inguinale semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label granuloma inguinale -MONDO:0005802 MONDO:equivalentTo ICD10WHO:B71.0 hymenolepiasis Hymenolepiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hymenolepiasis -MONDO:0005810 MONDO:equivalentTo ICD10WHO:B27 infectious mononucleosis Infectious mononucleosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infectious mononucleosis -MONDO:0005820 MONDO:equivalentTo ICD10WHO:A96.2 Lassa fever Lassa fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lassa fever -MONDO:0005825 MONDO:equivalentTo ICD10WHO:A27 leptospirosis Leptospirosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leptospirosis -MONDO:0005828 MONDO:equivalentTo ICD10WHO:A32 listeriosis Listeriosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label listeriosis -MONDO:0005832 MONDO:equivalentTo ICD10WHO:I89.1 lymphangitis Lymphangitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphangitis -MONDO:0005838 MONDO:equivalentTo ICD10WHO:B74.4 mansonelliasis Mansonelliasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mansonelliasis -MONDO:0005844 MONDO:equivalentTo ICD10WHO:H00.1 chalazion Chalazion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chalazion -MONDO:0005848 MONDO:equivalentTo ICD10WHO:A19 miliary tuberculosis Miliary tuberculosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label miliary tuberculosis -MONDO:0005855 MONDO:equivalentTo ICD10WHO:B08.1 molluscum contagiosum Molluscum contagiosum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label molluscum contagiosum -MONDO:0005859 MONDO:equivalentTo ICD10WHO:B55.2 mucocutaneous leishmaniasis Mucocutaneous leishmaniasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucocutaneous leishmaniasis -MONDO:0005870 MONDO:equivalentTo ICD10WHO:B76.1 necatoriasis Necatoriasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label necatoriasis -MONDO:0005881 MONDO:equivalentTo ICD10WHO:O41.0 oligohydramnios Oligohydramnios semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oligohydramnios -MONDO:0005884 MONDO:equivalentTo ICD10WHO:B66.0 opisthorchiasis Opisthorchiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label opisthorchiasis -MONDO:0005885 MONDO:equivalentTo ICD10WHO:H46 optic neuritis Optic neuritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label optic neuritis -MONDO:0005894 MONDO:equivalentTo ICD10WHO:B41 paracoccidioidomycosis Paracoccidioidomycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paracoccidioidomycosis -MONDO:0005895 MONDO:equivalentTo ICD10WHO:B66.4 paragonimiasis Paragonimiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paragonimiasis -MONDO:0005901 MONDO:equivalentTo ICD10WHO:A28.0 pasteurellosis Pasteurellosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pasteurellosis -MONDO:0005906 MONDO:equivalentTo ICD10WHO:J36 peritonsillar abscess Peritonsillar abscess semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peritonsillar abscess -MONDO:0005915 MONDO:equivalentTo ICD10WHO:B36.0 pityriasis versicolor Pityriasis versicolor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pityriasis versicolor -MONDO:0005918 MONDO:equivalentTo ICD10WHO:O44 placenta praevia Placenta praevia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label placenta praevia -MONDO:0005920 MONDO:equivalentTo ICD10WHO:B50 Plasmodium falciparum malaria Plasmodium falciparum malaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label plasmodium falciparum malaria -MONDO:0005921 MONDO:equivalentTo ICD10WHO:B51 Plasmodium vivax malaria Plasmodium vivax malaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label plasmodium vivax malaria -MONDO:0005942 MONDO:equivalentTo ICD10WHO:G93.7 Reye syndrome Reye syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label reye syndrome -MONDO:0005946 MONDO:equivalentTo ICD10WHO:B48.1 rhinosporidiosis Rhinosporidiosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhinosporidiosis -MONDO:0005952 MONDO:equivalentTo ICD10WHO:A38 scarlet fever Scarlet fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scarlet fever -MONDO:0005963 MONDO:equivalentTo ICD10WHO:B70.1 sparganosis Sparganosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sparganosis -MONDO:0005965 MONDO:equivalentTo ICD10WHO:M48.0 spinal stenosis Spinal stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinal stenosis -MONDO:0005968 MONDO:equivalentTo ICD10WHO:B42 sporotrichosis Sporotrichosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sporotrichosis -MONDO:0005974 MONDO:equivalentTo ICD10WHO:B78 strongyloidiasis Strongyloidiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label strongyloidiasis -MONDO:0005984 MONDO:equivalentTo ICD10WHO:B35.3 tinea pedis Tinea pedis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tinea pedis -MONDO:0005989 MONDO:equivalentTo ICD10WHO:B58 toxoplasmosis Toxoplasmosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toxoplasmosis -MONDO:0005991 MONDO:equivalentTo ICD10WHO:A79.0 trench fever Trench fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trench fever -MONDO:0005996 MONDO:equivalentTo ICD10WHO:B79 trichuriasis Trichuriasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichuriasis -MONDO:0006000 MONDO:equivalentTo ICD10WHO:K67.3 tuberculous peritonitis Tuberculous peritonitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tuberculous peritonitis -MONDO:0006004 MONDO:equivalentTo ICD10WHO:J30.0 vasomotor rhinitis Vasomotor rhinitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vasomotor rhinitis -MONDO:0006008 MONDO:equivalentTo ICD10WHO:H81.2 vestibular neuronitis Vestibular neuronitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vestibular neuronitis -MONDO:0006011 MONDO:equivalentTo ICD10WHO:B15-B19 viral hepatitis Viral hepatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label viral hepatitis -MONDO:0006015 MONDO:equivalentTo ICD10WHO:A39.1 Waterhouse-Friderichsen syndrome Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label waterhouse-friderichsen syndrome -MONDO:0006019 MONDO:equivalentTo ICD10WHO:A66 yaws Yaws semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label yaws -MONDO:0006032 MONDO:equivalentTo ICD10WHO:N30 cystitis Cystitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cystitis -MONDO:0006038 MONDO:equivalentTo ICD10WHO:K52.3 indeterminate colitis Indeterminate colitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label indeterminate colitis -MONDO:0006248 MONDO:equivalentTo ICD10WHO:O01 hydatidiform mole Hydatidiform mole semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hydatidiform mole -MONDO:0006497 MONDO:equivalentTo ICD10WHO:G80 cerebral palsy Cerebral palsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebral palsy -MONDO:0006515 MONDO:equivalentTo ICD10WHO:K85 acute pancreatitis Acute pancreatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute pancreatitis -MONDO:0006524 MONDO:equivalentTo ICD10WHO:L90.4 acrodermatitis chronica atrophicans Acrodermatitis chronica atrophicans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acrodermatitis chronica atrophicans -MONDO:0006525 MONDO:equivalentTo ICD10WHO:L23 allergic contact dermatitis Allergic contact dermatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label allergic contact dermatitis -MONDO:0006526 MONDO:equivalentTo ICD10WHO:L50.0 allergic urticaria Allergic urticaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label allergic urticaria -MONDO:0006527 MONDO:equivalentTo ICD10WHO:L74.4 anhidrosis Anhidrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anhidrosis -MONDO:0006532 MONDO:equivalentTo ICD10WHO:H60.4 cholesteatoma of external ear Cholesteatoma of external ear semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholesteatoma of external ear -MONDO:0006533 MONDO:equivalentTo ICD10WHO:H71 cholesteatoma of middle ear Cholesteatoma of middle ear semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholesteatoma of middle ear -MONDO:0006534 MONDO:equivalentTo ICD10WHO:L50.5 cholinergic urticaria Cholinergic urticaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholinergic urticaria -MONDO:0006541 MONDO:equivalentTo ICD10WHO:Q81 epidermolysis bullosa Epidermolysis bullosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epidermolysis bullosa -MONDO:0006543 MONDO:equivalentTo ICD10WHO:Q81.2 epidermolysis bullosa dystrophica Epidermolysis bullosa dystrophica semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epidermolysis bullosa dystrophica -MONDO:0006545 MONDO:equivalentTo ICD10WHO:L51 erythema multiforme Erythema multiforme semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythema multiforme -MONDO:0006551 MONDO:equivalentTo ICD10WHO:L65.2 alopecia mucinosa Alopecia mucinosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alopecia mucinosa -MONDO:0006554 MONDO:equivalentTo ICD10WHO:L92.0 granuloma annulare Granuloma annulare semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label granuloma annulare -MONDO:0006559 MONDO:equivalentTo ICD10WHO:L73.2 hidradenitis suppurativa Hidradenitis suppurativa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hidradenitis suppurativa -MONDO:0006567 MONDO:equivalentTo ICD10WHO:P57.0 kernicterus due to isoimmunization Kernicterus due to isoimmunization semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kernicterus due to isoimmunization -MONDO:0006571 MONDO:equivalentTo ICD10WHO:L44.1 lichen nitidus Lichen nitidus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lichen nitidus -MONDO:0006572 MONDO:equivalentTo ICD10WHO:L43 lichen planus Lichen planus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lichen planus -MONDO:0006581 MONDO:equivalentTo ICD10WHO:L74.0 miliaria rubra Miliaria rubra semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label miliaria rubra -MONDO:0006592 MONDO:equivalentTo ICD10WHO:L41 parapsoriasis Parapsoriasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label parapsoriasis -MONDO:0006594 MONDO:equivalentTo ICD10WHO:L10 pemphigus Pemphigus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pemphigus -MONDO:0006601 MONDO:equivalentTo ICD10WHO:L42 pityriasis rosea Pityriasis rosea semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pityriasis rosea -MONDO:0006604 MONDO:equivalentTo ICD10WHO:L71 rosacea Rosacea semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rosacea -MONDO:0006618 MONDO:equivalentTo ICD10WHO:L50.4 vibratory urticaria Vibratory urticaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vibratory urticaria -MONDO:0006643 MONDO:equivalentTo ICD10WHO:I42.6 alcoholic cardiomyopathy Alcoholic cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alcoholic cardiomyopathy -MONDO:0006645 MONDO:equivalentTo ICD10WHO:G62.1 alcoholic polyneuropathy Alcoholic polyneuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alcoholic polyneuropathy -MONDO:0006664 MONDO:equivalentTo ICD10WHO:Q21.1 atrial septal defect Atrial septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrial septal defect -MONDO:0006665 MONDO:equivalentTo ICD10WHO:K29.4 chronic atrophic gastritis Chronic atrophic gastritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic atrophic gastritis -MONDO:0006676 MONDO:equivalentTo ICD10WHO:E51.1 beriberi Beriberi semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beriberi -MONDO:0006688 MONDO:equivalentTo ICD10WHO:J66.0 byssinosis Byssinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label byssinosis -MONDO:0006692 MONDO:equivalentTo ICD10WHO:G37.2 central pontine myelinolysis Central pontine myelinolysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central pontine myelinolysis -MONDO:0006694 MONDO:equivalentTo ICD10WHO:I67.2 cerebral atherosclerosis Cerebral atherosclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebral atherosclerosis -MONDO:0006713 MONDO:equivalentTo ICD10WHO:H16.4 corneal neovascularization Corneal neovascularization semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corneal neovascularization -MONDO:0006771 MONDO:equivalentTo ICD10WHO:K14.0 glossitis Glossitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glossitis -MONDO:0006790 MONDO:equivalentTo ICD10WHO:K03.4 hypercementosis Hypercementosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypercementosis -MONDO:0006795 MONDO:equivalentTo ICD10WHO:D73.1 hypersplenism Hypersplenism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypersplenism -MONDO:0006796 MONDO:equivalentTo ICD10WHO:I67.4 hypertensive encephalopathy Hypertensive encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertensive encephalopathy -MONDO:0006798 MONDO:equivalentTo ICD10WHO:E67.0 hypervitaminosis A Hypervitaminosis A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypervitaminosis a -MONDO:0006826 MONDO:equivalentTo ICD10WHO:E40 kwashiorkor Kwashiorkor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kwashiorkor -MONDO:0006830 MONDO:equivalentTo ICD10WHO:N48.0 leukoplakia of penis Leukoplakia of penis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukoplakia of penis -MONDO:0006844 MONDO:equivalentTo ICD10WHO:E61.2 magnesium deficiency Magnesium deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label magnesium deficiency -MONDO:0006861 MONDO:equivalentTo ICD10WHO:C92.3 myeloid sarcoma Myeloid sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myeloid sarcoma -MONDO:0006913 MONDO:equivalentTo ICD10WHO:G00.1 pneumococcal meningitis Pneumococcal meningitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pneumococcal meningitis -MONDO:0006916 MONDO:equivalentTo ICD10WHO:K91.5 postcholecystectomy syndrome Postcholecystectomy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postcholecystectomy syndrome -MONDO:0006936 MONDO:equivalentTo ICD10WHO:I37.0 pulmonary valve stenosis Pulmonary valve stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary valve stenosis -MONDO:0006937 MONDO:equivalentTo ICD10WHO:K04.0 pulpitis Pulpitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulpitis -MONDO:0006946 MONDO:equivalentTo ICD10WHO:N25.0 renal osteodystrophy Renal osteodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal osteodystrophy -MONDO:0006947 MONDO:equivalentTo ICD10WHO:I15.0 renovascular hypertension Renovascular hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renovascular hypertension -MONDO:0006952 MONDO:equivalentTo ICD10WHO:H35.1 retinopathy of prematurity Retinopathy of prematurity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinopathy of prematurity -MONDO:0006970 MONDO:equivalentTo ICD10WHO:K11.5 sialolithiasis Sialolithiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sialolithiasis -MONDO:0006977 MONDO:equivalentTo ICD10WHO:N43.4 spermatocele Spermatocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatocele -MONDO:0006982 MONDO:equivalentTo ICD10WHO:E06.1 subacute thyroiditis Subacute thyroiditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subacute thyroiditis -MONDO:0006994 MONDO:equivalentTo ICD10WHO:G57.5 tarsal tunnel syndrome Tarsal tunnel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tarsal tunnel syndrome -MONDO:0007015 MONDO:equivalentTo ICD10WHO:A87 viral meningitis Viral meningitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label viral meningitis -MONDO:0007016 MONDO:equivalentTo ICD10WHO:E50 vitamin A deficiency Vitamin A deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vitamin a deficiency -MONDO:0007020 MONDO:equivalentTo ICD10WHO:E51.2 Wernicke encephalopathy Wernicke encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wernicke encephalopathy -MONDO:0007032 MONDO:equivalentTo ICD10WHO:Q79.4 prune belly syndrome Prune belly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prune belly syndrome -MONDO:0007035 MONDO:equivalentTo ICD10WHO:L83 acanthosis nigricans Acanthosis nigricans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acanthosis nigricans -MONDO:0007037 MONDO:equivalentTo ICD10WHO:Q77.4 Achondroplasia Achondroplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label achondroplasia -MONDO:0007074 MONDO:equivalentTo ICD10WHO:L94.6 ainhum Ainhum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ainhum -MONDO:0007125 MONDO:equivalentTo ICD10WHO:Q38.1 ankyloglossia Ankyloglossia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ankyloglossia -MONDO:0007243 MONDO:equivalentTo ICD10WHO:C83.7 Burkitt lymphoma Burkitt lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label burkitt lymphoma -MONDO:0007275 MONDO:equivalentTo ICD10WHO:G56.0 carpal tunnel syndrome Carpal tunnel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carpal tunnel syndrome -MONDO:0007338 MONDO:equivalentTo ICD10WHO:Q35.3 cleft soft palate Cleft soft palate semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft soft palate -MONDO:0007416 MONDO:equivalentTo ICD10WHO:N15.0 Balkan nephropathy Balkan nephropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label balkan nephropathy -MONDO:0007529 MONDO:equivalentTo ICD10WHO:L87.2 elastosis perforans serpiginosa Elastosis perforans serpiginosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label elastosis perforans serpiginosa -MONDO:0007603 MONDO:equivalentTo ICD10WHO:M05.0 Felty syndrome Felty syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label felty syndrome -MONDO:0007713 MONDO:equivalentTo ICD10WHO:G51.3 clonic hemifacial spasm Clonic hemifacial spasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label clonic hemifacial spasm -MONDO:0007739 MONDO:equivalentTo ICD10WHO:G10 Huntington disease Huntington disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label huntington disease -MONDO:0007741 MONDO:equivalentTo ICD10WHO:Q62.0 congenital hydronephrosis Congenital hydronephrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital hydronephrosis -MONDO:0007745 MONDO:equivalentTo ICD10WHO:E80.4 Gilbert syndrome Gilbert syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gilbert syndrome -MONDO:0007835 MONDO:equivalentTo ICD10WHO:K56.1 intussusception Intussusception semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intussusception -MONDO:0007865 MONDO:equivalentTo ICD10WHO:M72.1 knuckle pads Knuckle pads semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label knuckle pads -MONDO:0007878 MONDO:equivalentTo ICD10WHO:Q31.5 congenital laryngomalacia Congenital laryngomalacia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital laryngomalacia -MONDO:0007899 MONDO:equivalentTo ICD10WHO:L90.0 lichen sclerosus et atrophicus Lichen sclerosus et atrophicus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lichen sclerosus et atrophicus -MONDO:0007915 MONDO:equivalentTo ICD10WHO:M32 systemic lupus erythematosus Systemic lupus erythematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label systemic lupus erythematosus -MONDO:0007921 MONDO:equivalentTo ICD10WHO:L60.5 yellow nail syndrome Yellow nail syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label yellow nail syndrome -MONDO:0007947 MONDO:equivalentTo ICD10WHO:Q87.4 Marfan syndrome Marfan syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label marfan syndrome -MONDO:0007955 MONDO:equivalentTo ICD10WHO:Q43.0 Meckel diverticulum Meckel diverticulum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label meckel diverticulum -MONDO:0008015 MONDO:equivalentTo ICD10WHO:T75.3 motion sickness Motion sickness semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label motion sickness -MONDO:0008054 MONDO:equivalentTo ICD10WHO:M33.0 juvenile dermatomyositis Juvenile dermatomyositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile dermatomyositis -MONDO:0008114 MONDO:equivalentTo ICD10WHO:F42 obsessive-compulsive disorder Obsessive-compulsive disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label obsessive-compulsive disorder -MONDO:0008159 MONDO:equivalentTo ICD10WHO:M81.0 postmenopausal osteoporosis Postmenopausal osteoporosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postmenopausal osteoporosis -MONDO:0008183 MONDO:equivalentTo ICD10WHO:Q45.1 annular pancreas Annular pancreas semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label annular pancreas -MONDO:0008207 MONDO:equivalentTo ICD10WHO:M22.4 chondromalacia patellae Chondromalacia patellae semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chondromalacia patellae -MONDO:0008213 MONDO:equivalentTo ICD10WHO:Q67.6 pectus excavatum Pectus excavatum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pectus excavatum -MONDO:0008219 MONDO:equivalentTo ICD10WHO:L10.0 pemphigus vulgaris Pemphigus vulgaris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pemphigus vulgaris -MONDO:0008274 MONDO:equivalentTo ICD10WHO:Q78.1 polyostotic fibrous dysplasia Polyostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyostotic fibrous dysplasia -MONDO:0008320 MONDO:equivalentTo ICD10WHO:M24.7 Protrusio acetabuli Protrusio acetabuli semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label protrusio acetabuli -MONDO:0008449 MONDO:equivalentTo ICD10WHO:Q05 spina bifida Spina bifida semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spina bifida -MONDO:0008475 MONDO:equivalentTo ICD10WHO:M43.1 spondylolisthesis Spondylolisthesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylolisthesis -MONDO:0008542 MONDO:equivalentTo ICD10WHO:Q21.3 tetralogy of fallot Tetralogy of Fallot semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetralogy of fallot -MONDO:0008585 MONDO:equivalentTo ICD10WHO:O14.2 HELLP syndrome HELLP syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hellp syndrome -MONDO:0008599 MONDO:equivalentTo ICD10WHO:G50.0 trigeminal neuralgia Trigeminal neuralgia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trigeminal neuralgia -MONDO:0008608 MONDO:equivalentTo ICD10WHO:Q90 Down syndrome Down syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label down syndrome -MONDO:0008661 MONDO:equivalentTo ICD10WHO:L80 vitiligo Vitiligo semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vitiligo -MONDO:0008797 MONDO:equivalentTo ICD10WHO:K00.0 anodontia Anodontia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anodontia -MONDO:0009044 MONDO:equivalentTo ICD10WHO:E80.5 Crigler-Najjar syndrome Crigler-Najjar syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label crigler-najjar syndrome -MONDO:0009061 MONDO:equivalentTo ICD10WHO:E84 cystic fibrosis Cystic fibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cystic fibrosis -MONDO:0009106 MONDO:equivalentTo ICD10WHO:Q06.2 diastematomyelia Diastematomyelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diastematomyelia -MONDO:0009115 MONDO:equivalentTo ICD10WHO:E73.0 congenital lactase deficiency Congenital lactase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital lactase deficiency -MONDO:0009144 MONDO:equivalentTo ICD10WHO:Q22.5 Ebstein anomaly Ebstein anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ebstein anomaly -MONDO:0009169 MONDO:equivalentTo ICD10WHO:I42.4 endocardial fibroelastosis Endocardial fibroelastosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label endocardial fibroelastosis -MONDO:0009264 MONDO:equivalentTo ICD10WHO:Q79.3 gastroschisis Gastroschisis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gastroschisis -MONDO:0009326 MONDO:equivalentTo ICD10WHO:Q24.6 congenital heart block Congenital heart block semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital heart block -MONDO:0009451 MONDO:equivalentTo ICD10WHO:D81.4 Nezelof syndrome Nezelof syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nezelof syndrome -MONDO:0009688 MONDO:equivalentTo ICD10WHO:G70.0 myasthenia gravis Myasthenia gravis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myasthenia gravis -MONDO:0009691 MONDO:equivalentTo ICD10WHO:C84.0 mycosis fungoides Mycosis fungoides semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mycosis fungoides -MONDO:0009835 MONDO:equivalentTo ICD10WHO:A81.1 subacute sclerosing panencephalitis Subacute sclerosing panencephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subacute sclerosing panencephalitis -MONDO:0010029 MONDO:equivalentTo ICD10WHO:Q89.3 situs inversus Situs inversus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label situs inversus -MONDO:0010149 MONDO:equivalentTo ICD10WHO:D51.2 transcobalamin II deficiency Transcobalamin II deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transcobalamin ii deficiency -MONDO:0010298 MONDO:equivalentTo ICD10WHO:E79.1 Lesch-Nyhan syndrome Lesch-Nyhan syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lesch-nyhan syndrome -MONDO:0010518 MONDO:equivalentTo ICD10WHO:D82.0 Wiskott-Aldrich syndrome Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wiskott-aldrich syndrome -MONDO:0010528 MONDO:equivalentTo ICD10WHO:R43.0 anosmia Anosmia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anosmia -MONDO:0010631 MONDO:equivalentTo ICD10WHO:Q82.3 incontinentia pigmenti Incontinentia pigmenti semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label incontinentia pigmenti -MONDO:0010726 MONDO:equivalentTo ICD10WHO:F84.2 Rett syndrome Rett syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rett syndrome -MONDO:0010837 MONDO:equivalentTo ICD10WHO:E21.0 primary hyperparathyroidism Primary hyperparathyroidism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary hyperparathyroidism -MONDO:0010920 MONDO:equivalentTo ICD10WHO:Q17.2 microtia Microtia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microtia -MONDO:0010947 MONDO:equivalentTo ICD10WHO:I82.0 Budd-Chiari syndrome Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label budd-chiari syndrome -MONDO:0011284 MONDO:equivalentTo ICD10WHO:H52.2 astigmatism Astigmatism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label astigmatism -MONDO:0011438 MONDO:equivalentTo ICD10WHO:L70 acne Acne semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acne -MONDO:0011662 MONDO:equivalentTo ICD10WHO:F63.0 pathological gambling Pathological gambling semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pathological gambling -MONDO:0011827 MONDO:equivalentTo ICD10WHO:Q25.0 patent ductus arteriosus Patent ductus arteriosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label patent ductus arteriosus -MONDO:0011989 MONDO:equivalentTo ICD10WHO:B55 leishmaniasis Leishmaniasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leishmaniasis -MONDO:0012155 MONDO:equivalentTo ICD10WHO:Q30.0 choanal atresia Choanal atresia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label choanal atresia -MONDO:0012328 MONDO:equivalentTo ICD10WHO:L72.1 trichilemmal cyst Trichilemmal cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichilemmal cyst -MONDO:0012672 MONDO:equivalentTo ICD10WHO:K80 cholelithiasis Cholelithiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholelithiasis -MONDO:0012865 MONDO:equivalentTo ICD10WHO:L73.1 Pseudofolliculitis barbae Pseudofolliculitis barbae semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudofolliculitis barbae -MONDO:0013189 MONDO:equivalentTo ICD10WHO:F63.3 trichotillomania Trichotillomania semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichotillomania -MONDO:0015092 MONDO:equivalentTo ICD10WHO:Q35.1 cleft hard palate Cleft hard palate semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft hard palate -MONDO:0015104 MONDO:equivalentTo ICD10WHO:E80.1 porphyria cutanea tarda Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label porphyria cutanea tarda -MONDO:0015168 MONDO:equivalentTo ICD10WHO:Q74.3 arthrogryposis multiplex congenita Arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arthrogryposis multiplex congenita -MONDO:0015200 MONDO:equivalentTo ICD10WHO:B81.0 anisakiasis Anisakiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anisakiasis -MONDO:0015260 MONDO:equivalentTo ICD10WHO:B70.0 diphyllobothriasis Diphyllobothriasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diphyllobothriasis -MONDO:0015358 MONDO:equivalentTo ICD10WHO:G60.0 hereditary motor and sensory neuropathy Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary motor and sensory neuropathy -MONDO:0015395 MONDO:equivalentTo ICD10WHO:Q31.1 congenital subglottic stenosis Congenital subglottic stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital subglottic stenosis -MONDO:0015469 MONDO:equivalentTo ICD10WHO:Q75.0 craniosynostosis Craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniosynostosis -MONDO:0015474 MONDO:equivalentTo ICD10WHO:A07.2 cryptosporidiosis Cryptosporidiosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cryptosporidiosis -MONDO:0015483 MONDO:equivalentTo ICD10WHO:Q75.4 mandibulofacial dysostosis Mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mandibulofacial dysostosis -MONDO:0015484 MONDO:equivalentTo ICD10WHO:B69 cysticercosis Cysticercosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cysticercosis -MONDO:0015486 MONDO:equivalentTo ICD10WHO:H18.6 keratoconus Keratoconus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratoconus -MONDO:0015496 MONDO:equivalentTo ICD10WHO:Q38.2 macroglossia Macroglossia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macroglossia -MONDO:0015517 MONDO:equivalentTo ICD10WHO:D83 common variable immunodeficiency Common variable immunodeficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label common variable immunodeficiency -MONDO:0015573 MONDO:equivalentTo ICD10WHO:L93.1 subacute cutaneous lupus erythematosus Subacute cutaneous lupus erythematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subacute cutaneous lupus erythematosus -MONDO:0015597 MONDO:equivalentTo ICD10WHO:L40.3 pustulosis palmaris et plantaris Pustulosis palmaris et plantaris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pustulosis palmaris et plantaris -MONDO:0015614 MONDO:equivalentTo ICD10WHO:L13.0 dermatitis herpetiformis Dermatitis herpetiformis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dermatitis herpetiformis -MONDO:0015622 MONDO:equivalentTo ICD10WHO:B87.1 wound myiasis Wound myiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wound myiasis -MONDO:0015661 MONDO:equivalentTo ICD10WHO:Q24.0 dextrocardia Dextrocardia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dextrocardia -MONDO:0015766 MONDO:equivalentTo ICD10WHO:A00 cholera Cholera semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholera -MONDO:0016008 MONDO:equivalentTo ICD10WHO:Q86.1 fetal hydantoin syndrome Fetal hydantoin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal hydantoin syndrome -MONDO:0016020 MONDO:equivalentTo ICD10WHO:Q01.0 frontal encephalocele Frontal encephalocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frontal encephalocele -MONDO:0016035 MONDO:equivalentTo ICD10WHO:E24.1 Nelson syndrome Nelson syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nelson syndrome -MONDO:0016052 MONDO:equivalentTo ICD10WHO:F84.1 atypical autism Atypical autism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical autism -MONDO:0016064 MONDO:equivalentTo ICD10WHO:Q35 cleft palate Cleft palate semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft palate -MONDO:0016075 MONDO:equivalentTo ICD10WHO:B74 filariasis Filariasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label filariasis -MONDO:0016122 MONDO:equivalentTo ICD10WHO:G72.3 periodic paralysis Periodic paralysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label periodic paralysis -MONDO:0016215 MONDO:equivalentTo ICD10WHO:G80.0 spastic quadriplegic cerebral palsy Spastic quadriplegic cerebral palsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic quadriplegic cerebral palsy -MONDO:0016264 MONDO:equivalentTo ICD10WHO:K75.4 autoimmune hepatitis Autoimmune hepatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune hepatitis -MONDO:0016295 MONDO:equivalentTo ICD10WHO:E75.4 neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuronal ceroid lipofuscinosis -MONDO:0016296 MONDO:equivalentTo ICD10WHO:Q04.2 holoprosencephaly Holoprosencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label holoprosencephaly -MONDO:0016318 MONDO:equivalentTo ICD10WHO:A81.2 progressive multifocal leukoencephalopathy Progressive multifocal leukoencephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive multifocal leukoencephalopathy -MONDO:0016349 MONDO:equivalentTo ICD10WHO:Q03 congenital hydrocephalus Congenital hydrocephalus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital hydrocephalus -MONDO:0016380 MONDO:equivalentTo ICD10WHO:L68.1 acquired hypertrichosis lanuginosa Acquired hypertrichosis lanuginosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired hypertrichosis lanuginosa -MONDO:0016383 MONDO:equivalentTo ICD10WHO:N25.1 nephrogenic diabetes insipidus Nephrogenic diabetes insipidus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nephrogenic diabetes insipidus -MONDO:0016391 MONDO:equivalentTo ICD10WHO:P70.2 neonatal diabetes mellitus Neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal diabetes mellitus -MONDO:0016472 MONDO:equivalentTo ICD10WHO:B72 dracunculiasis Dracunculiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dracunculiasis -MONDO:0016530 MONDO:equivalentTo ICD10WHO:Q31.3 laryngocele Laryngocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngocele -MONDO:0016566 MONDO:equivalentTo ICD10WHO:B74.3 loiasis Loiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label loiasis -MONDO:0016567 MONDO:equivalentTo ICD10WHO:G83.5 locked-in syndrome Locked-in syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label locked-in syndrome -MONDO:0016608 MONDO:equivalentTo ICD10WHO:Q04.5 megalencephaly Megalencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label megalencephaly -MONDO:0016761 MONDO:equivalentTo ICD10WHO:Q77.7 spondyloepiphyseal dysplasia Spondyloepiphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepiphyseal dysplasia -MONDO:0016820 MONDO:equivalentTo ICD10WHO:I67.5 Moyamoya disease Moyamoya disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label moyamoya disease -MONDO:0016823 MONDO:equivalentTo ICD10WHO:B47 mycetoma Mycetoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mycetoma -MONDO:0017080 MONDO:equivalentTo ICD10WHO:Q01.2 occipital encephalocele Occipital encephalocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label occipital encephalocele -MONDO:0017137 MONDO:equivalentTo ICD10WHO:B73 onchocerciasis Onchocerciasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label onchocerciasis -MONDO:0017178 MONDO:equivalentTo ICD10WHO:M93.2 osteochondritis dissecans Osteochondritis dissecans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteochondritis dissecans -MONDO:0017198 MONDO:equivalentTo ICD10WHO:Q78.2 osteopetrosis Osteopetrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteopetrosis -MONDO:0017319 MONDO:equivalentTo ICD10WHO:D58.1 hereditary elliptocytosis Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary elliptocytosis -MONDO:0017361 MONDO:equivalentTo ICD10WHO:P35.0 congenital rubella syndrome Congenital rubella syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital rubella syndrome -MONDO:0017362 MONDO:equivalentTo ICD10WHO:G54.5 neuralgic amyotrophy Neuralgic amyotrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuralgic amyotrophy -MONDO:0017441 MONDO:equivalentTo ICD10WHO:Q71.1 congenital absence of upper arm and forearm with hand present Congenital absence of upper arm and forearm with hand present semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital absence of upper arm and forearm with hand present -MONDO:0017442 MONDO:equivalentTo ICD10WHO:Q72.1 congenital absence of thigh and lower leg with foot present Congenital absence of thigh and lower leg with foot present semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital absence of thigh and lower leg with foot present -MONDO:0017443 MONDO:equivalentTo ICD10WHO:Q71.2 congenital absence of both forearm and hand Congenital absence of both forearm and hand semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital absence of both forearm and hand -MONDO:0017444 MONDO:equivalentTo ICD10WHO:Q72.2 congenital absence of both lower leg and foot Congenital absence of both lower leg and foot semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital absence of both lower leg and foot -MONDO:0017450 MONDO:equivalentTo ICD10WHO:Q72.7 split foot Split foot semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label split foot -MONDO:0017610 MONDO:equivalentTo ICD10WHO:Q81.0 epidermolysis bullosa simplex Epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epidermolysis bullosa simplex -MONDO:0017776 MONDO:equivalentTo ICD10WHO:A43 nocardiosis Nocardiosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nocardiosis -MONDO:0017778 MONDO:equivalentTo ICD10WHO:Q80.2 lamellar ichthyosis Lamellar ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lamellar ichthyosis -MONDO:0017783 MONDO:equivalentTo ICD10WHO:Q45.2 congenital pancreatic cyst Congenital pancreatic cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pancreatic cyst -MONDO:0017865 MONDO:equivalentTo ICD10WHO:Q22.1 congenital pulmonary valve stenosis Congenital pulmonary valve stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pulmonary valve stenosis -MONDO:0017880 MONDO:equivalentTo ICD10WHO:A92.4 Rift valley fever Rift Valley fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rift valley fever -MONDO:0017881 MONDO:equivalentTo ICD10WHO:A98.2 Kyasanur forest disease Kyasanur Forest disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kyasanur forest disease -MONDO:0018015 MONDO:equivalentTo ICD10WHO:M12.4 intermittent hydrarthrosis Intermittent hydrarthrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intermittent hydrarthrosis -MONDO:0018056 MONDO:equivalentTo ICD10WHO:L43.1 bullous lichen planus Bullous lichen planus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bullous lichen planus -MONDO:0018059 MONDO:equivalentTo ICD10WHO:A39.0 meningococcal meningitis Meningococcal meningitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label meningococcal meningitis -MONDO:0018076 MONDO:equivalentTo ICD10WHO:A15-A19 tuberculosis Tuberculosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tuberculosis -MONDO:0018089 MONDO:equivalentTo ICD10WHO:Q20.1 double outlet right ventricle Double outlet right ventricle semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label double outlet right ventricle -MONDO:0018090 MONDO:equivalentTo ICD10WHO:Q20.2 double outlet left ventricle Double outlet left ventricle semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label double outlet left ventricle -MONDO:0018166 MONDO:equivalentTo ICD10WHO:K13.5 oral submucous fibrosis Oral submucous fibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oral submucous fibrosis -MONDO:0018181 MONDO:equivalentTo ICD10WHO:L00 staphylococcal scalded skin syndrome Staphylococcal scalded skin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label staphylococcal scalded skin syndrome -MONDO:0018309 MONDO:equivalentTo ICD10WHO:Q43.1 Hirschsprung disease Hirschsprung disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hirschsprung disease -MONDO:0018312 MONDO:equivalentTo ICD10WHO:B39 histoplasmosis Histoplasmosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label histoplasmosis -MONDO:0018326 MONDO:equivalentTo ICD10WHO:P94.0 transient neonatal myasthenia gravis Transient neonatal myasthenia gravis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient neonatal myasthenia gravis -MONDO:0018683 MONDO:equivalentTo ICD10WHO:L85.0 acquired ichthyosis Acquired ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired ichthyosis -MONDO:0018747 MONDO:equivalentTo ICD10WHO:L12.3 acquired epidermolysis bullosa Acquired epidermolysis bullosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired epidermolysis bullosa -MONDO:0018769 MONDO:equivalentTo ICD10WHO:A07.3 isosporiasis Isosporiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isosporiasis -MONDO:0018815 MONDO:equivalentTo ICD10WHO:M85.5 aneurysmal bone cyst Aneurysmal bone cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aneurysmal bone cyst -MONDO:0018824 MONDO:equivalentTo ICD10WHO:L88 pyoderma gangrenosum Pyoderma gangrenosum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyoderma gangrenosum -MONDO:0018876 MONDO:equivalentTo ICD10WHO:C83.1 mantle cell lymphoma Mantle cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mantle cell lymphoma -MONDO:0018879 MONDO:equivalentTo ICD10WHO:L66.1 lichen planopilaris Lichen planopilaris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lichen planopilaris -MONDO:0018905 MONDO:equivalentTo ICD10WHO:C83.3 diffuse large B-cell lymphoma Diffuse large B-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse large b-cell lymphoma -MONDO:0018906 MONDO:equivalentTo ICD10WHO:C82 follicular lymphoma Follicular lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label follicular lymphoma -MONDO:0018912 MONDO:equivalentTo ICD10WHO:E24 Cushing syndrome Cushing syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cushing syndrome -MONDO:0018968 MONDO:equivalentTo ICD10WHO:Q00.2 iniencephaly Iniencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label iniencephaly -MONDO:0018969 MONDO:equivalentTo ICD10WHO:Q00.1 craniorachischisis Craniorachischisis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniorachischisis -MONDO:0019019 MONDO:equivalentTo ICD10WHO:Q78.0 osteogenesis imperfecta Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteogenesis imperfecta -MONDO:0019064 MONDO:equivalentTo ICD10WHO:G11.4 hereditary spastic paraplegia Hereditary spastic paraplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary spastic paraplegia -MONDO:0019065 MONDO:equivalentTo ICD10WHO:E85 amyloidosis Amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amyloidosis -MONDO:0019082 MONDO:equivalentTo ICD10WHO:L12.0 bullous pemphigoid Bullous pemphigoid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bullous pemphigoid -MONDO:0019084 MONDO:equivalentTo ICD10WHO:K62.7 radiation proctitis Radiation proctitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radiation proctitis -MONDO:0019095 MONDO:equivalentTo ICD10WHO:A20 plague Plague semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label plague -MONDO:0019121 MONDO:equivalentTo ICD10WHO:B48.5 pneumocystosis Pneumocystosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pneumocystosis -MONDO:0019124 MONDO:equivalentTo ICD10WHO:M31.7 microscopic polyangiitis Microscopic polyangiitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microscopic polyangiitis -MONDO:0019125 MONDO:equivalentTo ICD10WHO:M94.1 relapsing polychondritis Relapsing polychondritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label relapsing polychondritis -MONDO:0019127 MONDO:equivalentTo ICD10WHO:M33.2 polymyositis Polymyositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polymyositis -MONDO:0019136 MONDO:equivalentTo ICD10WHO:B46 Zygomycosis Zygomycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label zygomycosis -MONDO:0019147 MONDO:equivalentTo ICD10WHO:B87 myiasis Myiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myiasis -MONDO:0019170 MONDO:equivalentTo ICD10WHO:M30.0 polyarteritis nodosa Polyarteritis nodosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyarteritis nodosa -MONDO:0019173 MONDO:equivalentTo ICD10WHO:A82 rabies Rabies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rabies -MONDO:0019186 MONDO:equivalentTo ICD10WHO:A78 Q fever Q fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label q fever -MONDO:0019209 MONDO:equivalentTo ICD10WHO:A83.0 Japanese encephalitis Japanese encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label japanese encephalitis -MONDO:0019280 MONDO:equivalentTo ICD10WHO:L68 hypertrichosis Hypertrichosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertrichosis -MONDO:0019322 MONDO:equivalentTo ICD10WHO:L10.1 pemphigus vegetans Pemphigus vegetans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pemphigus vegetans -MONDO:0019323 MONDO:equivalentTo ICD10WHO:L10.4 pemphigus erythematosus Pemphigus erythematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pemphigus erythematosus -MONDO:0019324 MONDO:equivalentTo ICD10WHO:L10.2 pemphigus foliaceus Pemphigus foliaceus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pemphigus foliaceus -MONDO:0019338 MONDO:equivalentTo ICD10WHO:D86 sarcoidosis Sarcoidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sarcoidosis -MONDO:0019345 MONDO:equivalentTo ICD10WHO:A03 shigellosis Shigellosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label shigellosis -MONDO:0019350 MONDO:equivalentTo ICD10WHO:D58.0 hereditary spherocytosis Hereditary spherocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary spherocytosis -MONDO:0019355 MONDO:equivalentTo ICD10WHO:M06.1 adult-onset Still disease Adult-onset Still disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adult-onset still disease -MONDO:0019372 MONDO:equivalentTo ICD10WHO:M85.4 solitary bone cyst Solitary bone cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label solitary bone cyst -MONDO:0019380 MONDO:equivalentTo ICD10WHO:A83.1 western equine encephalitis Western equine encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label western equine encephalitis -MONDO:0019444 MONDO:equivalentTo ICD10WHO:B75 trichinellosis Trichinellosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichinellosis -MONDO:0019455 MONDO:equivalentTo ICD10WHO:C94.4 acute panmyelosis with myelofibrosis Acute panmyelosis with myelofibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute panmyelosis with myelofibrosis -MONDO:0019474 MONDO:equivalentTo ICD10WHO:C86.1 hepatosplenic T-cell lymphoma Hepatosplenic T-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatosplenic t-cell lymphoma -MONDO:0019475 MONDO:equivalentTo ICD10WHO:C86.3 subcutaneous panniculitis-like T-cell lymphoma Subcutaneous panniculitis-like T-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subcutaneous panniculitis-like t-cell lymphoma -MONDO:0019479 MONDO:equivalentTo ICD10WHO:C96.8 histiocytic sarcoma Histiocytic sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label histiocytic sarcoma -MONDO:0019499 MONDO:equivalentTo ICD10WHO:Q96 Turner syndrome Turner syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label turner syndrome -MONDO:0019514 MONDO:equivalentTo ICD10WHO:K76.5 hepatic veno-occlusive disease Hepatic veno-occlusive disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatic veno-occlusive disease -MONDO:0019526 MONDO:equivalentTo ICD10WHO:L95.1 erythema elevatum diutinum Erythema elevatum diutinum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythema elevatum diutinum -MONDO:0019558 MONDO:equivalentTo ICD10WHO:L93.0 discoid lupus erythematosus Discoid lupus erythematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label discoid lupus erythematosus -MONDO:0019600 MONDO:equivalentTo ICD10WHO:Q82.1 xeroderma pigmentosum Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label xeroderma pigmentosum -MONDO:0019632 MONDO:equivalentTo ICD10WHO:A69.2 Lyme disease Lyme disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lyme disease -MONDO:0019636 MONDO:equivalentTo ICD10WHO:Q60.0 renal agenesis, unilateral Renal agenesis, unilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal agenesis, unilateral -MONDO:0019638 MONDO:equivalentTo ICD10WHO:Q61.4 renal dysplasia Renal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal dysplasia -MONDO:0019648 MONDO:equivalentTo ICD10WHO:Q77.0 achondrogenesis Achondrogenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label achondrogenesis -MONDO:0019701 MONDO:equivalentTo ICD10WHO:Q77.3 chondrodysplasia punctata Chondrodysplasia punctata semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chondrodysplasia punctata -MONDO:0019735 MONDO:equivalentTo ICD10WHO:M35.3 polymyalgia rheumatica Polymyalgia rheumatica semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polymyalgia rheumatica -MONDO:0019737 MONDO:equivalentTo ICD10WHO:M31.1 thrombotic microangiopathy Thrombotic microangiopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thrombotic microangiopathy -MONDO:0019759 MONDO:equivalentTo ICD10WHO:Q64.0 epispadias Epispadias semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epispadias -MONDO:0019813 MONDO:equivalentTo ICD10WHO:Q22.4 congenital tricuspid stenosis Congenital tricuspid stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital tricuspid stenosis -MONDO:0019945 MONDO:equivalentTo ICD10WHO:L56.3 solar urticaria Solar urticaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label solar urticaria -MONDO:0019979 MONDO:equivalentTo ICD10WHO:Q60.3 renal hypoplasia, unilateral Renal hypoplasia, unilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal hypoplasia, unilateral -MONDO:0019980 MONDO:equivalentTo ICD10WHO:Q60.4 renal hypoplasia, bilateral Renal hypoplasia, bilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal hypoplasia, bilateral -MONDO:0019992 MONDO:equivalentTo ICD10WHO:E20.1 pseudohypoparathyroidism Pseudohypoparathyroidism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudohypoparathyroidism -MONDO:0019993 MONDO:equivalentTo ICD10WHO:Q27.1 congenital renal artery stenosis Congenital renal artery stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital renal artery stenosis -MONDO:0020066 MONDO:equivalentTo ICD10WHO:Q79.6 Ehlers-Danlos syndrome Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ehlers-danlos syndrome -MONDO:0020121 MONDO:equivalentTo ICD10WHO:G71.0 muscular dystrophy Muscular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label muscular dystrophy -MONDO:0020159 MONDO:equivalentTo ICD10WHO:Q10.2 congenital entropion Congenital entropion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital entropion -MONDO:0020161 MONDO:equivalentTo ICD10WHO:Q10.1 congenital ectropion Congenital ectropion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital ectropion -MONDO:0020291 MONDO:equivalentTo ICD10WHO:Q22.6 hypoplastic right heart syndrome Hypoplastic right heart syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypoplastic right heart syndrome -MONDO:0020356 MONDO:equivalentTo ICD10WHO:Q13.0 coloboma of iris Coloboma of iris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coloboma of iris -MONDO:0020366 MONDO:equivalentTo ICD10WHO:Q15.0 congenital glaucoma Congenital glaucoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital glaucoma -MONDO:0020398 MONDO:equivalentTo ICD10WHO:Q23.2 congenital mitral stenosis Congenital mitral stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital mitral stenosis -MONDO:0020502 MONDO:equivalentTo ICD10WHO:A95 yellow fever Yellow fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label yellow fever -MONDO:0020548 MONDO:equivalentTo ICD10WHO:H13.3 ocular pemphigoid Ocular pemphigoid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ocular pemphigoid -MONDO:0020568 MONDO:equivalentTo ICD10WHO:B87.0 cutaneous myiasis Cutaneous myiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutaneous myiasis -MONDO:0020599 MONDO:equivalentTo ICD10WHO:D68.4 acquired coagulation factor deficiency Acquired coagulation factor deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired coagulation factor deficiency -MONDO:0020600 MONDO:equivalentTo ICD10WHO:J02 acute pharyngitis Acute pharyngitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute pharyngitis -MONDO:0020601 MONDO:equivalentTo ICD10WHO:A83 mosquito-borne viral encephalitis Mosquito-borne viral encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosquito-borne viral encephalitis -MONDO:0020655 MONDO:equivalentTo ICD10WHO:M08.1 juvenile ankylosing spondylitis Juvenile ankylosing spondylitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile ankylosing spondylitis -MONDO:0020680 MONDO:equivalentTo ICD10WHO:J21 acute bronchiolitis Acute bronchiolitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute bronchiolitis -MONDO:0020686 MONDO:equivalentTo ICD10WHO:J03 acute tonsillitis Acute tonsillitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute tonsillitis -MONDO:0020782 MONDO:equivalentTo ICD10WHO:K05.1 chronic gingivitis Chronic gingivitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic gingivitis -MONDO:0020863 MONDO:equivalentTo ICD10WHO:A36.2 laryngeal diphtheria Laryngeal diphtheria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngeal diphtheria -MONDO:0020866 MONDO:equivalentTo ICD10WHO:A36.1 nasopharyngeal diphtheria Nasopharyngeal diphtheria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nasopharyngeal diphtheria -MONDO:0021002 MONDO:equivalentTo ICD10WHO:Q70 syndactyly Syndactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndactyly -MONDO:0021003 MONDO:equivalentTo ICD10WHO:Q69 polydactyly Polydactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polydactyly -MONDO:0021124 MONDO:equivalentTo ICD10WHO:N97 female infertility Female infertility semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label female infertility -MONDO:0021377 MONDO:equivalentTo ICD10WHO:L43.0 hypertrophic lichen planus Hypertrophic lichen planus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertrophic lichen planus -MONDO:0021394 MONDO:equivalentTo ICD10WHO:N84.2 polyp of vagina Polyp of vagina semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyp of vagina -MONDO:0021396 MONDO:equivalentTo ICD10WHO:N84.3 polyp of vulva Polyp of vulva semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyp of vulva -MONDO:0021400 MONDO:equivalentTo ICD10WHO:K63.5 polyp of colon Polyp of colon semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyp of colon -MONDO:0021527 MONDO:equivalentTo ICD10WHO:D32 benign neoplasm of meninges Benign neoplasm of meninges semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign neoplasm of meninges -MONDO:0021642 MONDO:equivalentTo ICD10WHO:I86.3 vulval varices Vulval varices semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vulval varices -MONDO:0021723 MONDO:equivalentTo ICD10WHO:N94.2 vaginismus Vaginismus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vaginismus -MONDO:0021750 MONDO:equivalentTo ICD10WHO:N13.6 pyonephrosis Pyonephrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyonephrosis -MONDO:0022096 MONDO:equivalentTo ICD10WHO:L98.0 pyogenic granuloma Pyogenic granuloma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyogenic granuloma -MONDO:0022103 MONDO:equivalentTo ICD10WHO:N41.1 chronic prostatitis Chronic prostatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic prostatitis -MONDO:0022171 MONDO:equivalentTo ICD10WHO:L75.1 chromhidrosis Chromhidrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chromhidrosis -MONDO:0023011 MONDO:equivalentTo ICD10WHO:P27.0 Wilson-Mikity syndrome Wilson-Mikity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wilson-mikity syndrome -MONDO:0023297 MONDO:equivalentTo ICD10WHO:L40.4 guttate psoriasis Guttate psoriasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label guttate psoriasis -MONDO:0024228 MONDO:equivalentTo ICD10WHO:L74.2 miliaria profunda Miliaria profunda semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label miliaria profunda -MONDO:0024229 MONDO:equivalentTo ICD10WHO:L74.1 miliaria crystallina Miliaria crystallina semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label miliaria crystallina -MONDO:0024302 MONDO:equivalentTo ICD10WHO:B83.4 internal hirudiniasis Internal hirudiniasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label internal hirudiniasis -MONDO:0024303 MONDO:equivalentTo ICD10WHO:B88.3 external hirudiniasis External hirudiniasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label external hirudiniasis -MONDO:0024304 MONDO:equivalentTo ICD10WHO:Q80.0 ichthyosis vulgaris Ichthyosis vulgaris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ichthyosis vulgaris -MONDO:0024333 MONDO:equivalentTo ICD10WHO:M54.3 sciatica Sciatica semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sciatica -MONDO:0024349 MONDO:equivalentTo ICD10WHO:L30.5 pityriasis alba Pityriasis alba semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pityriasis alba -MONDO:0024647 MONDO:equivalentTo ICD10WHO:N20-N23 urolithiasis Urolithiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label urolithiasis -MONDO:0024650 MONDO:equivalentTo ICD10WHO:M81.4 drug-induced osteoporosis Drug-induced osteoporosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label drug-induced osteoporosis -MONDO:0024652 MONDO:equivalentTo ICD10WHO:Q50.4 embryonic cyst of fallopian tube Embryonic cyst of fallopian tube semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label embryonic cyst of fallopian tube -MONDO:0026045 MONDO:equivalentTo ICD10WHO:L28.1 prurigo nodularis Prurigo nodularis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prurigo nodularis -MONDO:0040925 MONDO:equivalentTo ICD10WHO:A66.8 latent yaws Latent yaws semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label latent yaws -MONDO:0041086 MONDO:equivalentTo ICD10WHO:F41.2 mixed anxiety and depressive disorder Mixed anxiety and depressive disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mixed anxiety and depressive disorder -MONDO:0041366 MONDO:equivalentTo ICD10WHO:J05.1 acute epiglottitis Acute epiglottitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute epiglottitis -MONDO:0042484 MONDO:equivalentTo ICD10WHO:B42.7 disseminated sporotrichosis Disseminated sporotrichosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disseminated sporotrichosis -MONDO:0043209 MONDO:equivalentTo ICD10WHO:E70.3 albinism Albinism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label albinism -MONDO:0043224 MONDO:equivalentTo ICD10WHO:F01.1 multi-infarct dementia Multi-infarct dementia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multi-infarct dementia -MONDO:0043233 MONDO:equivalentTo ICD10WHO:L26 exfoliative dermatitis Exfoliative dermatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label exfoliative dermatitis -MONDO:0043237 MONDO:equivalentTo ICD10WHO:K14.6 glossodynia Glossodynia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glossodynia -MONDO:0043267 MONDO:equivalentTo ICD10WHO:M05.2 rheumatoid vasculitis Rheumatoid vasculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rheumatoid vasculitis -MONDO:0043294 MONDO:equivalentTo ICD10WHO:L94.1 linear scleroderma Linear scleroderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label linear scleroderma -MONDO:0043310 MONDO:equivalentTo ICD10WHO:G45.3 amaurosis fugax Amaurosis fugax semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amaurosis fugax -MONDO:0043327 MONDO:equivalentTo ICD10WHO:G96.0 cerebrospinal fluid leak Cerebrospinal fluid leak semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebrospinal fluid leak -MONDO:0043468 MONDO:equivalentTo ICD10WHO:L73.0 acne keloid Acne keloid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acne keloid -MONDO:0043537 MONDO:equivalentTo ICD10WHO:G44.0 cluster headache syndrome Cluster headache syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cluster headache syndrome -MONDO:0043541 MONDO:equivalentTo ICD10WHO:B30 viral conjunctivitis Viral conjunctivitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label viral conjunctivitis -MONDO:0043762 MONDO:equivalentTo ICD10WHO:O00.1 tubal pregnancy Tubal pregnancy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tubal pregnancy -MONDO:0043765 MONDO:equivalentTo ICD10WHO:H91.1 presbycusis Presbycusis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label presbycusis -MONDO:0043771 MONDO:equivalentTo ICD10WHO:L58 radiodermatitis Radiodermatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radiodermatitis -MONDO:0043777 MONDO:equivalentTo ICD10WHO:L71.1 rhinophyma Rhinophyma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhinophyma -MONDO:0043783 MONDO:equivalentTo ICD10WHO:P83.0 sclerema neonatorum Sclerema neonatorum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sclerema neonatorum -MONDO:0043975 MONDO:equivalentTo ICD10WHO:G90.4 autonomic dysreflexia Autonomic dysreflexia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autonomic dysreflexia -MONDO:0043994 MONDO:equivalentTo ICD10WHO:K81.0 acute cholecystitis Acute cholecystitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute cholecystitis -MONDO:0044014 MONDO:equivalentTo ICD10WHO:O90.5 postpartum thyroiditis Postpartum thyroiditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postpartum thyroiditis -MONDO:0044211 MONDO:equivalentTo ICD10WHO:L50.1 idiopathic urticaria Idiopathic urticaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic urticaria -MONDO:0044778 MONDO:equivalentTo ICD10WHO:C81.0 nodular lymphocyte predominant Hodgkin lymphoma Nodular lymphocyte predominant Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nodular lymphocyte predominant hodgkin lymphoma -MONDO:0044983 MONDO:equivalentTo ICD10WHO:D17 benign lipomatous neoplasm Benign lipomatous neoplasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign lipomatous neoplasm -MONDO:0060766 MONDO:equivalentTo ICD10WHO:K62.0 anal polyp Anal polyp semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anal polyp -MONDO:0100017 MONDO:equivalentTo ICD10WHO:L44.0 pityriasis rubra pilaris Pityriasis rubra pilaris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pityriasis rubra pilaris -MONDO:0100076 MONDO:equivalentTo ICD10WHO:M41.1 juvenile idiopathic scoliosis Juvenile idiopathic scoliosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile idiopathic scoliosis -MONDO:0100309 MONDO:equivalentTo ICD10WHO:G11 hereditary ataxia Hereditary ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary ataxia -MONDO:0100345 MONDO:equivalentTo ICD10WHO:E73 lactose intolerance Lactose intolerance semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lactose intolerance -MONDO:0100347 MONDO:equivalentTo ICD10WHO:E34.0 carcinoid syndrome Carcinoid syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carcinoid syndrome -MONDO:0100471 MONDO:equivalentTo ICD10WHO:E55 vitamin D deficiency Vitamin D deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vitamin d deficiency -MONDO:0100491 MONDO:equivalentTo ICD10WHO:L40.1 generalized pustular psoriasis Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label generalized pustular psoriasis -MONDO:0400003 MONDO:equivalentTo ICD10WHO:M85.1 skeletal fluorosis Skeletal fluorosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label skeletal fluorosis -MONDO:0800175 MONDO:equivalentTo ICD10WHO:R57.0 cardiogenic shock Cardiogenic shock semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiogenic shock -MONDO:0800177 MONDO:equivalentTo ICD10WHO:T33-T35 frostbite Frostbite semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frostbite -MONDO:0800198 MONDO:equivalentTo ICD10WHO:L63.1 alopecia universalis Alopecia universalis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alopecia universalis -MONDO:0850046 MONDO:equivalentTo ICD10WHO:O88.1 amniotic fluid embolism Amniotic fluid embolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amniotic fluid embolism -MONDO:0850231 MONDO:equivalentTo ICD10WHO:L52 erythema nodosum Erythema nodosum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythema nodosum -MONDO:0850301 MONDO:equivalentTo ICD10WHO:L12 pemphigoid Pemphigoid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pemphigoid -MONDO:0859565 MONDO:equivalentTo ICD10WHO:Q21.2 atrioventricular septal defect Atrioventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrioventricular septal defect -MONDO:0007630 MONDO:equivalentTo DOID:0070439 North Carolina macular dystrophy North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch mesh:c537835 -MONDO:0007630 MONDO:equivalentTo DOID:0070439 North Carolina macular dystrophy North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:136550 -MONDO:0007872 MONDO:equivalentTo DOID:0081370 LADD syndrome LADD syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omimps:149730 -MONDO:0008164 MONDO:equivalentTo DOID:0060920 otosclerosis 1 otosclerosis 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:166800 -MONDO:0008672 MONDO:equivalentTo DOID:0070483 Watson syndrome Watson syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:193520 -MONDO:0009726 MONDO:equivalentTo DOID:0060913 proteosome-associated autoinflammatory syndrome proteosome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omimps:256040 -MONDO:0010209 MONDO:equivalentTo DOID:0070452 xanthinuria type I xanthinuria type I semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:278300 -MONDO:0010857 MONDO:equivalentTo DOID:0081391 semantic dementia semantic dementia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label semantic dementia -MONDO:0011346 MONDO:equivalentTo DOID:0070453 xanthinuria type II xanthinuria type II semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:603592 -MONDO:0011586 MONDO:equivalentTo DOID:0060921 otosclerosis 2 otosclerosis 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:605727 -MONDO:0011999 MONDO:equivalentTo DOID:0060922 otosclerosis 3 otosclerosis 3 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:608244 -MONDO:0012121 MONDO:equivalentTo DOID:0060924 otosclerosis 5 otosclerosis 5 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:608787 -MONDO:0012611 MONDO:equivalentTo DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch mesh:c567020 -MONDO:0012611 MONDO:equivalentTo DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:611087 -MONDO:0012669 MONDO:equivalentTo DOID:0070484 Legius syndrome Legius syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch mesh:c548032 -MONDO:0012669 MONDO:equivalentTo DOID:0070484 Legius syndrome Legius syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:611431 -MONDO:0012696 MONDO:equivalentTo DOID:0060923 otosclerosis 4 otosclerosis 4 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:611571 -MONDO:0012697 MONDO:equivalentTo DOID:0060925 otosclerosis 7 otosclerosis 7 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:611572 -MONDO:0012797 MONDO:equivalentTo DOID:0060926 otosclerosis 8 otosclerosis 8 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:612096 -MONDO:0014264 MONDO:equivalentTo DOID:0060927 otosclerosis 10 otosclerosis 10 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:615589 -MONDO:0014299 MONDO:equivalentTo DOID:0070481 schwannomatosis 2 schwannomatosis 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:615670 -MONDO:0014958 MONDO:equivalentTo DOID:0081395 Harel-Yoon syndrome Harel-Yoon syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617183 -MONDO:0015059 MONDO:equivalentTo DOID:0081390 progressive non-fluent aphasia progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive non-fluent aphasia -MONDO:0016644 MONDO:equivalentTo DOID:0081389 logopenic progressive aphasia logopenic progressive aphasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label logopenic progressive aphasia -MONDO:0018808 MONDO:equivalentTo DOID:0081394 Caroli syndrome Caroli syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label caroli syndrome -MONDO:0019806 MONDO:equivalentTo DOID:0081388 primary progressive aphasia primary progressive aphasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary progressive aphasia -MONDO:0020730 MONDO:equivalentTo DOID:0070466 carpal tunnel syndrome 1 carpal tunnel syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:115430 -MONDO:0024517 MONDO:equivalentTo DOID:0070480 schwannomatosis 1 schwannomatosis 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:162091 -MONDO:0030020 MONDO:equivalentTo DOID:0070424 combined oxidative phosphorylation deficiency 44 combined oxidative phosphorylation deficiency 44 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618855 -MONDO:0030073 MONDO:equivalentTo DOID:0070516 Mitchell syndrome Mitchell syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618960 -MONDO:0030311 MONDO:equivalentTo DOID:0070425 combined oxidative phosphorylation deficiency 52 combined oxidative phosphorylation deficiency 52 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619386 -MONDO:0030378 MONDO:equivalentTo DOID:0070426 combined oxidative phosphorylation deficiency 53 combined oxidative phosphorylation deficiency 53 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619423 -MONDO:0030543 MONDO:equivalentTo DOID:0070427 combined oxidative phosphorylation deficiency 54 combined oxidative phosphorylation deficiency 54 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619737 -MONDO:0030883 MONDO:equivalentTo DOID:0070467 carpal tunnel syndrome 2 carpal tunnel syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619161 -MONDO:0032815 MONDO:equivalentTo DOID:0070448 mitochondrial DNA depletion syndrome 17 mitochondrial DNA depletion syndrome 17 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618567 -MONDO:0032932 MONDO:equivalentTo DOID:0070449 mitochondrial DNA depletion syndrome 18 mitochondrial DNA depletion syndrome 18 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618811 -MONDO:0033545 MONDO:equivalentTo DOID:0070450 mitochondrial DNA depletion syndrome 19 mitochondrial DNA depletion syndrome 19 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618972 -MONDO:0033618 MONDO:equivalentTo DOID:0081397 Vissers-Bodmer syndrome Vissers-Bodmer syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619033 -MONDO:0044315 MONDO:equivalentTo DOID:0060912 craniosynostosis 7 craniosynostosis 7 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617439 -MONDO:0054560 MONDO:equivalentTo DOID:0050640 anauxetic dysplasia 1 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:607095 -MONDO:0054699 MONDO:equivalentTo DOID:0060916 proteasome-associated autoinflammatory syndrome 3 proteasome-associated autoinflammatory syndrome 3 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617591 -MONDO:0054835 MONDO:equivalentTo DOID:0070489 classic dopamine transporter deficiency syndrome classic dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:613135 -MONDO:0060596 MONDO:equivalentTo DOID:0070514 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies neurodevelopmental disorder with dysmorphic facies and distal limb anomalies semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617755 -MONDO:0700200 MONDO:equivalentTo DOID:0070488 atypical dopamine transporter deficiency syndrome atypical dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical dopamine transporter deficiency syndrome -MONDO:0859152 MONDO:equivalentTo DOID:0070443 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction neurodevelopmental disorder with cerebellar atrophy and motor dysfunction semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619333 -MONDO:0859179 MONDO:equivalentTo DOID:0070469 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum neurodevelopmental disorder with dysmorphic facies and thin corpus callosum semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619480 -MONDO:0859209 MONDO:equivalentTo DOID:0070473 Zaki syndrome Zaki syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619648 -MONDO:0859221 MONDO:equivalentTo DOID:0070468 Yoon-Bellen neurodevelopmental syndrome Yoon-Bellen neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619701 -MONDO:0859228 MONDO:equivalentTo DOID:0070428 combined oxidative phosphorylation deficiency 55 combined oxidative phosphorylation deficiency 55 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619743 -MONDO:0859256 MONDO:equivalentTo DOID:0070444 neurodevelopmental disorder with language delay and seizures neurodevelopmental disorder with language delay and seizures semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619908 -MONDO:0859295 MONDO:equivalentTo DOID:0070479 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620070 -MONDO:0859323 MONDO:equivalentTo DOID:0070429 combined oxidative phosphorylation deficiency 56 combined oxidative phosphorylation deficiency 56 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620139 -MONDO:0859337 MONDO:equivalentTo DOID:0070430 combined oxidative phosphorylation deficiency 57 combined oxidative phosphorylation deficiency 57 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620167 -MONDO:0859355 MONDO:equivalentTo DOID:0070510 inflammatory poikiloderma with hair abnormalities and acral keratoses inflammatory poikiloderma with hair abnormalities and acral keratoses semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620199 -MONDO:0859577 MONDO:equivalentTo DOID:0081371 lacrimoauriculodentodigital syndrome 2 lacrimoauriculodentodigital syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620192 -MONDO:0859578 MONDO:equivalentTo DOID:0081372 lacrimoauriculodentodigital syndrome 3 lacrimoauriculodentodigital syndrome 3 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620193 -MONDO:0957215 MONDO:equivalentTo DOID:0081352 congenital myopathy 20 congenital myopathy 20 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620310 -MONDO:0957248 MONDO:equivalentTo DOID:0070376 developmental and epileptic encephalopathy 31B developmental and epileptic encephalopathy 31B semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620352 -MONDO:0957386 MONDO:equivalentTo DOID:0081387 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620428 -MONDO:0001633 MONDO:equivalentTo Orphanet:648684 central retinal artery occlusion Central retinal artery occlusion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central retinal artery occlusion -MONDO:0004672 MONDO:equivalentTo Orphanet:658909 fasciolopsiasis Fasciolopsiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fasciolopsiasis -MONDO:0005705 MONDO:equivalentTo Orphanet:658917 clonorchiasis Clonorchiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label clonorchiasis -MONDO:0005895 MONDO:equivalentTo Orphanet:658913 paragonimiasis Paragonimiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paragonimiasis -MONDO:0008136 MONDO:equivalentTo Orphanet:637061 isolated optic nerve hypoplasia Isolated optic nerve hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated optic nerve hypoplasia -MONDO:0014563 MONDO:equivalentTo Orphanet:653880 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial short-chain enoyl-coa hydratase 1 deficiency -MONDO:0041186 MONDO:equivalentTo Orphanet:658584 Rowell syndrome Rowell syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rowell syndrome +MONDO:0002010 MONDO:equivalentTo OMIMPS:305450 FG syndrome FG syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fg syndrome +MONDO:0007709 MONDO:equivalentTo OMIMPS:141200 hematuria, benign familial Hematuria, benign familial semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hematuria, benign familial +MONDO:0008116 MONDO:equivalentTo OMIMPS:164300 oculopharyngeal muscular dystrophy Oculopharyngeal muscular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculopharyngeal muscular dystrophy +MONDO:0009813 MONDO:equivalentTo OMIMPS:609628 chronic recurrent multifocal osteomyelitis Chronic recurrent multifocal osteomyelitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic recurrent multifocal osteomyelitis +MONDO:0011612 MONDO:equivalentTo OMIMPS:605899 glycine encephalopathy Glycine encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycine encephalopathy +MONDO:0012172 MONDO:equivalentTo OMIMPS:609015 mitochondrial trifunctional protein deficiency Mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial trifunctional protein deficiency +MONDO:0013343 MONDO:equivalentTo OMIMPS:613652 C1Q deficiency C1q deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label c1q deficiency +MONDO:0018875 MONDO:equivalentTo OMIMPS:151623 Li-Fraumeni syndrome Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label li-fraumeni syndrome +MONDO:0030309 MONDO:equivalentTo OMIMPS:619382 Leber hereditary optic neuropathy, autosomal recessive Leber hereditary optic neuropathy, autosomal recessive semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leber hereditary optic neuropathy, autosomal recessive MONDO:0000022 MONDO:equivalentTo ICD10CM:N39.44 nocturnal enuresis Nocturnal enuresis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nocturnal enuresis MONDO:0000190 MONDO:equivalentTo ICD10CM:I49.01 ventricular fibrillation Ventricular fibrillation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ventricular fibrillation MONDO:0000397 MONDO:equivalentTo ICD10CM:G80.4 ataxic cerebral palsy Ataxic cerebral palsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ataxic cerebral palsy @@ -1207,15 +409,13 @@ MONDO:0800198 MONDO:equivalentTo ICD10CM:L63.1 alopecia universalis Alopecia uni MONDO:0850231 MONDO:equivalentTo ICD10CM:L52 erythema nodosum Erythema nodosum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythema nodosum MONDO:0850301 MONDO:equivalentTo ICD10CM:L12 pemphigoid Pemphigoid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pemphigoid MONDO:0859565 MONDO:equivalentTo ICD10CM:Q21.2 atrioventricular septal defect Atrioventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrioventricular septal defect -MONDO:0002010 MONDO:equivalentTo OMIMPS:305450 FG syndrome FG syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fg syndrome -MONDO:0007709 MONDO:equivalentTo OMIMPS:141200 hematuria, benign familial Hematuria, benign familial semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hematuria, benign familial -MONDO:0008116 MONDO:equivalentTo OMIMPS:164300 oculopharyngeal muscular dystrophy Oculopharyngeal muscular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculopharyngeal muscular dystrophy -MONDO:0009813 MONDO:equivalentTo OMIMPS:609628 chronic recurrent multifocal osteomyelitis Chronic recurrent multifocal osteomyelitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic recurrent multifocal osteomyelitis -MONDO:0011612 MONDO:equivalentTo OMIMPS:605899 glycine encephalopathy Glycine encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycine encephalopathy -MONDO:0012172 MONDO:equivalentTo OMIMPS:609015 mitochondrial trifunctional protein deficiency Mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial trifunctional protein deficiency -MONDO:0013343 MONDO:equivalentTo OMIMPS:613652 C1Q deficiency C1q deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label c1q deficiency -MONDO:0018875 MONDO:equivalentTo OMIMPS:151623 Li-Fraumeni syndrome Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label li-fraumeni syndrome -MONDO:0030309 MONDO:equivalentTo OMIMPS:619382 Leber hereditary optic neuropathy, autosomal recessive Leber hereditary optic neuropathy, autosomal recessive semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leber hereditary optic neuropathy, autosomal recessive +MONDO:0001633 MONDO:equivalentTo Orphanet:648684 central retinal artery occlusion Central retinal artery occlusion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central retinal artery occlusion +MONDO:0004672 MONDO:equivalentTo Orphanet:658909 fasciolopsiasis Fasciolopsiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fasciolopsiasis +MONDO:0005705 MONDO:equivalentTo Orphanet:658917 clonorchiasis Clonorchiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label clonorchiasis +MONDO:0005895 MONDO:equivalentTo Orphanet:658913 paragonimiasis Paragonimiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paragonimiasis +MONDO:0008136 MONDO:equivalentTo Orphanet:637061 isolated optic nerve hypoplasia Isolated optic nerve hypoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isolated optic nerve hypoplasia +MONDO:0014563 MONDO:equivalentTo Orphanet:653880 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial short-chain enoyl-coa hydratase 1 deficiency +MONDO:0041186 MONDO:equivalentTo Orphanet:658584 Rowell syndrome Rowell syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rowell syndrome MONDO:0004520 MONDO:equivalentTo NCIT:C192096 intratubular embryonal carcinoma Intratubular Embryonal Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intratubular embryonal carcinoma MONDO:0015301 MONDO:equivalentTo NCIT:C199391 primary cutaneous amyloidosis Primary Cutaneous Amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous amyloidosis MONDO:0017289 MONDO:equivalentTo NCIT:C190105 fetal lung interstitial tumor Fetal Lung Interstitial Tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal lung interstitial tumor @@ -1258,3 +458,803 @@ MONDO:0859598 MONDO:equivalentTo NCIT:C7152 erythroleukemia Erythroleukemia sema MONDO:0859747 MONDO:equivalentTo NCIT:C7931 grade I lymphomatoid granulomatosis Grade I Lymphomatoid Granulomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label grade i lymphomatoid granulomatosis MONDO:0859748 MONDO:equivalentTo NCIT:C7932 grade II lymphomatoid granulomatosis Grade II Lymphomatoid Granulomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label grade ii lymphomatoid granulomatosis MONDO:0859749 MONDO:equivalentTo NCIT:C7933 grade III lymphomatoid granulomatosis Grade III Lymphomatoid Granulomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label grade iii lymphomatoid granulomatosis +MONDO:0007630 MONDO:equivalentTo DOID:0070439 North Carolina macular dystrophy North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch mesh:c537835 +MONDO:0007630 MONDO:equivalentTo DOID:0070439 North Carolina macular dystrophy North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:136550 +MONDO:0007872 MONDO:equivalentTo DOID:0081370 LADD syndrome LADD syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omimps:149730 +MONDO:0008164 MONDO:equivalentTo DOID:0060920 otosclerosis 1 otosclerosis 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:166800 +MONDO:0008672 MONDO:equivalentTo DOID:0070483 Watson syndrome Watson syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:193520 +MONDO:0009726 MONDO:equivalentTo DOID:0060913 proteosome-associated autoinflammatory syndrome proteosome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omimps:256040 +MONDO:0010209 MONDO:equivalentTo DOID:0070452 xanthinuria type I xanthinuria type I semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:278300 +MONDO:0010857 MONDO:equivalentTo DOID:0081391 semantic dementia semantic dementia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label semantic dementia +MONDO:0011346 MONDO:equivalentTo DOID:0070453 xanthinuria type II xanthinuria type II semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:603592 +MONDO:0011586 MONDO:equivalentTo DOID:0060921 otosclerosis 2 otosclerosis 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:605727 +MONDO:0011999 MONDO:equivalentTo DOID:0060922 otosclerosis 3 otosclerosis 3 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:608244 +MONDO:0012121 MONDO:equivalentTo DOID:0060924 otosclerosis 5 otosclerosis 5 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:608787 +MONDO:0012611 MONDO:equivalentTo DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch mesh:c567020 +MONDO:0012611 MONDO:equivalentTo DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:611087 +MONDO:0012669 MONDO:equivalentTo DOID:0070484 Legius syndrome Legius syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch mesh:c548032 +MONDO:0012669 MONDO:equivalentTo DOID:0070484 Legius syndrome Legius syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:611431 +MONDO:0012696 MONDO:equivalentTo DOID:0060923 otosclerosis 4 otosclerosis 4 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:611571 +MONDO:0012697 MONDO:equivalentTo DOID:0060925 otosclerosis 7 otosclerosis 7 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:611572 +MONDO:0012797 MONDO:equivalentTo DOID:0060926 otosclerosis 8 otosclerosis 8 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:612096 +MONDO:0014264 MONDO:equivalentTo DOID:0060927 otosclerosis 10 otosclerosis 10 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:615589 +MONDO:0014299 MONDO:equivalentTo DOID:0070481 schwannomatosis 2 schwannomatosis 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:615670 +MONDO:0014958 MONDO:equivalentTo DOID:0081395 Harel-Yoon syndrome Harel-Yoon syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617183 +MONDO:0015059 MONDO:equivalentTo DOID:0081390 progressive non-fluent aphasia progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive non-fluent aphasia +MONDO:0016644 MONDO:equivalentTo DOID:0081389 logopenic progressive aphasia logopenic progressive aphasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label logopenic progressive aphasia +MONDO:0018808 MONDO:equivalentTo DOID:0081394 Caroli syndrome Caroli syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label caroli syndrome +MONDO:0019806 MONDO:equivalentTo DOID:0081388 primary progressive aphasia primary progressive aphasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary progressive aphasia +MONDO:0020730 MONDO:equivalentTo DOID:0070466 carpal tunnel syndrome 1 carpal tunnel syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:115430 +MONDO:0024517 MONDO:equivalentTo DOID:0070480 schwannomatosis 1 schwannomatosis 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:162091 +MONDO:0030020 MONDO:equivalentTo DOID:0070424 combined oxidative phosphorylation deficiency 44 combined oxidative phosphorylation deficiency 44 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618855 +MONDO:0030073 MONDO:equivalentTo DOID:0070516 Mitchell syndrome Mitchell syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618960 +MONDO:0030311 MONDO:equivalentTo DOID:0070425 combined oxidative phosphorylation deficiency 52 combined oxidative phosphorylation deficiency 52 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619386 +MONDO:0030378 MONDO:equivalentTo DOID:0070426 combined oxidative phosphorylation deficiency 53 combined oxidative phosphorylation deficiency 53 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619423 +MONDO:0030543 MONDO:equivalentTo DOID:0070427 combined oxidative phosphorylation deficiency 54 combined oxidative phosphorylation deficiency 54 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619737 +MONDO:0030883 MONDO:equivalentTo DOID:0070467 carpal tunnel syndrome 2 carpal tunnel syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619161 +MONDO:0032815 MONDO:equivalentTo DOID:0070448 mitochondrial DNA depletion syndrome 17 mitochondrial DNA depletion syndrome 17 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618567 +MONDO:0032932 MONDO:equivalentTo DOID:0070449 mitochondrial DNA depletion syndrome 18 mitochondrial DNA depletion syndrome 18 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618811 +MONDO:0033545 MONDO:equivalentTo DOID:0070450 mitochondrial DNA depletion syndrome 19 mitochondrial DNA depletion syndrome 19 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618972 +MONDO:0033618 MONDO:equivalentTo DOID:0081397 Vissers-Bodmer syndrome Vissers-Bodmer syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619033 +MONDO:0044315 MONDO:equivalentTo DOID:0060912 craniosynostosis 7 craniosynostosis 7 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617439 +MONDO:0054560 MONDO:equivalentTo DOID:0050640 anauxetic dysplasia 1 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:607095 +MONDO:0054699 MONDO:equivalentTo DOID:0060916 proteasome-associated autoinflammatory syndrome 3 proteasome-associated autoinflammatory syndrome 3 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617591 +MONDO:0054835 MONDO:equivalentTo DOID:0070489 classic dopamine transporter deficiency syndrome classic dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:613135 +MONDO:0060596 MONDO:equivalentTo DOID:0070514 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies neurodevelopmental disorder with dysmorphic facies and distal limb anomalies semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617755 +MONDO:0700200 MONDO:equivalentTo DOID:0070488 atypical dopamine transporter deficiency syndrome atypical dopamine transporter deficiency syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical dopamine transporter deficiency syndrome +MONDO:0859152 MONDO:equivalentTo DOID:0070443 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction neurodevelopmental disorder with cerebellar atrophy and motor dysfunction semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619333 +MONDO:0859179 MONDO:equivalentTo DOID:0070469 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum neurodevelopmental disorder with dysmorphic facies and thin corpus callosum semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619480 +MONDO:0859209 MONDO:equivalentTo DOID:0070473 Zaki syndrome Zaki syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619648 +MONDO:0859221 MONDO:equivalentTo DOID:0070468 Yoon-Bellen neurodevelopmental syndrome Yoon-Bellen neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619701 +MONDO:0859228 MONDO:equivalentTo DOID:0070428 combined oxidative phosphorylation deficiency 55 combined oxidative phosphorylation deficiency 55 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619743 +MONDO:0859256 MONDO:equivalentTo DOID:0070444 neurodevelopmental disorder with language delay and seizures neurodevelopmental disorder with language delay and seizures semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619908 +MONDO:0859295 MONDO:equivalentTo DOID:0070479 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620070 +MONDO:0859323 MONDO:equivalentTo DOID:0070429 combined oxidative phosphorylation deficiency 56 combined oxidative phosphorylation deficiency 56 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620139 +MONDO:0859337 MONDO:equivalentTo DOID:0070430 combined oxidative phosphorylation deficiency 57 combined oxidative phosphorylation deficiency 57 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620167 +MONDO:0859355 MONDO:equivalentTo DOID:0070510 inflammatory poikiloderma with hair abnormalities and acral keratoses inflammatory poikiloderma with hair abnormalities and acral keratoses semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620199 +MONDO:0859577 MONDO:equivalentTo DOID:0081371 lacrimoauriculodentodigital syndrome 2 lacrimoauriculodentodigital syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620192 +MONDO:0859578 MONDO:equivalentTo DOID:0081372 lacrimoauriculodentodigital syndrome 3 lacrimoauriculodentodigital syndrome 3 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620193 +MONDO:0957215 MONDO:equivalentTo DOID:0081352 congenital myopathy 20 congenital myopathy 20 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620310 +MONDO:0957248 MONDO:equivalentTo DOID:0070376 developmental and epileptic encephalopathy 31B developmental and epileptic encephalopathy 31B semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620352 +MONDO:0957386 MONDO:equivalentTo DOID:0081387 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620428 +MONDO:0000088 MONDO:equivalentTo ICD10WHO:E30.1 precocious puberty Precocious puberty semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label precocious puberty +MONDO:0000245 MONDO:equivalentTo ICD10WHO:B35.5 tinea imbricata Tinea imbricata semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tinea imbricata +MONDO:0000367 MONDO:equivalentTo ICD10WHO:B68 taeniasis Taeniasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label taeniasis +MONDO:0000397 MONDO:equivalentTo ICD10WHO:G80.4 ataxic cerebral palsy Ataxic cerebral palsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ataxic cerebral palsy +MONDO:0000495 MONDO:equivalentTo ICD10WHO:F91.3 oppositional defiant disorder Oppositional defiant disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oppositional defiant disorder +MONDO:0000665 MONDO:equivalentTo ICD10WHO:R48.2 apraxia Apraxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label apraxia +MONDO:0000745 MONDO:equivalentTo ICD10WHO:I46 cardiac arrest Cardiac arrest semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiac arrest +MONDO:0000754 MONDO:equivalentTo ICD10WHO:K60.3 anal fistula Anal fistula semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anal fistula +MONDO:0000755 MONDO:equivalentTo ICD10WHO:O00 ectopic pregnancy Ectopic pregnancy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ectopic pregnancy +MONDO:0000819 MONDO:equivalentTo ICD10WHO:Q00.0 anencephaly Anencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anencephaly +MONDO:0000859 MONDO:equivalentTo ICD10WHO:Q76.0 spina bifida occulta Spina bifida occulta semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spina bifida occulta +MONDO:0000889 MONDO:equivalentTo ICD10WHO:G00.0 haemophilus meningitis Haemophilus meningitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label haemophilus meningitis +MONDO:0000923 MONDO:equivalentTo ICD10WHO:J98.2 interstitial emphysema Interstitial emphysema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label interstitial emphysema +MONDO:0000924 MONDO:equivalentTo ICD10WHO:J98.3 compensatory emphysema Compensatory emphysema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label compensatory emphysema +MONDO:0000927 MONDO:equivalentTo ICD10WHO:A52.2 asymptomatic neurosyphilis Asymptomatic neurosyphilis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label asymptomatic neurosyphilis +MONDO:0000983 MONDO:equivalentTo ICD10WHO:F65.2 exhibitionism Exhibitionism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label exhibitionism +MONDO:0000986 MONDO:equivalentTo ICD10WHO:R09.1 pleurisy Pleurisy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pleurisy +MONDO:0000987 MONDO:equivalentTo ICD10WHO:K82.4 cholesterolosis of gallbladder Cholesterolosis of gallbladder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholesterolosis of gallbladder +MONDO:0000990 MONDO:equivalentTo ICD10WHO:I21.4 acute subendocardial myocardial infarction Acute subendocardial myocardial infarction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute subendocardial myocardial infarction +MONDO:0001007 MONDO:equivalentTo ICD10WHO:G03.1 chronic meningitis Chronic meningitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic meningitis +MONDO:0001009 MONDO:equivalentTo ICD10WHO:N60.0 solitary cyst of breast Solitary cyst of breast semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label solitary cyst of breast +MONDO:0001024 MONDO:equivalentTo ICD10WHO:A20.2 pneumonic plague Pneumonic plague semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pneumonic plague +MONDO:0001029 MONDO:equivalentTo ICD10WHO:Q76.1 Klippel-Feil syndrome Klippel-Feil syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label klippel-feil syndrome +MONDO:0001042 MONDO:equivalentTo ICD10WHO:M76.5 patellar tendinitis Patellar tendinitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label patellar tendinitis +MONDO:0001049 MONDO:equivalentTo ICD10WHO:I24.1 Dressler syndrome Dressler syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dressler syndrome +MONDO:0001050 MONDO:equivalentTo ICD10WHO:H60.2 malignant otitis externa Malignant otitis externa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant otitis externa +MONDO:0001078 MONDO:equivalentTo ICD10WHO:K90.1 tropical sprue Tropical sprue semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tropical sprue +MONDO:0001100 MONDO:equivalentTo ICD10WHO:N62 hypertrophy of breast Hypertrophy of breast semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertrophy of breast +MONDO:0001101 MONDO:equivalentTo ICD10WHO:N64.1 fat necrosis of breast Fat necrosis of breast semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fat necrosis of breast +MONDO:0001109 MONDO:equivalentTo ICD10WHO:H70.2 petrositis Petrositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label petrositis +MONDO:0001112 MONDO:equivalentTo ICD10WHO:A20.0 bubonic plague Bubonic plague semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bubonic plague +MONDO:0001120 MONDO:equivalentTo ICD10WHO:J32.1 chronic frontal sinusitis Chronic frontal sinusitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic frontal sinusitis +MONDO:0001122 MONDO:equivalentTo ICD10WHO:J32.0 chronic maxillary sinusitis Chronic maxillary sinusitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic maxillary sinusitis +MONDO:0001123 MONDO:equivalentTo ICD10WHO:J32.3 chronic sphenoidal sinusitis Chronic sphenoidal sinusitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic sphenoidal sinusitis +MONDO:0001126 MONDO:equivalentTo ICD10WHO:K25 gastric ulcer Gastric ulcer semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gastric ulcer +MONDO:0001135 MONDO:equivalentTo ICD10WHO:F65.3 voyeurism Voyeurism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label voyeurism +MONDO:0001143 MONDO:equivalentTo ICD10WHO:H49 paralytic strabismus Paralytic strabismus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paralytic strabismus +MONDO:0001149 MONDO:equivalentTo ICD10WHO:Q02 microcephaly Microcephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microcephaly +MONDO:0001150 MONDO:equivalentTo ICD10WHO:G91 hydrocephalus Hydrocephalus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hydrocephalus +MONDO:0001155 MONDO:equivalentTo ICD10WHO:K28 gastrojejunal ulcer Gastrojejunal ulcer semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gastrojejunal ulcer +MONDO:0001157 MONDO:equivalentTo ICD10WHO:F60.7 dependent personality disorder Dependent personality disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dependent personality disorder +MONDO:0001161 MONDO:equivalentTo ICD10WHO:F60.1 schizoid personality disorder Schizoid personality disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label schizoid personality disorder +MONDO:0001163 MONDO:equivalentTo ICD10WHO:F60.0 paranoid personality disorder Paranoid personality disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paranoid personality disorder +MONDO:0001168 MONDO:equivalentTo ICD10WHO:G81.1 spastic hemiplegia Spastic hemiplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic hemiplegia +MONDO:0001170 MONDO:equivalentTo ICD10WHO:G81 hemiplegia Hemiplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemiplegia +MONDO:0001180 MONDO:equivalentTo ICD10WHO:H18.1 bullous keratopathy Bullous keratopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bullous keratopathy +MONDO:0001185 MONDO:equivalentTo ICD10WHO:F44.0 dissociative amnesia Dissociative amnesia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dissociative amnesia +MONDO:0001200 MONDO:equivalentTo ICD10WHO:I15 secondary hypertension Secondary hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary hypertension +MONDO:0001208 MONDO:equivalentTo ICD10WHO:J96.0 acute respiratory failure Acute respiratory failure semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute respiratory failure +MONDO:0001210 MONDO:equivalentTo ICD10WHO:H05.4 enophthalmos Enophthalmos semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label enophthalmos +MONDO:0001216 MONDO:equivalentTo ICD10WHO:K04.2 pulp degeneration Pulp degeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulp degeneration +MONDO:0001218 MONDO:equivalentTo ICD10WHO:J06.0 acute laryngopharyngitis Acute laryngopharyngitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute laryngopharyngitis +MONDO:0001220 MONDO:equivalentTo ICD10WHO:E20 hypoparathyroidism Hypoparathyroidism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypoparathyroidism +MONDO:0001241 MONDO:equivalentTo ICD10WHO:P61.5 transient neonatal neutropenia Transient neonatal neutropenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient neonatal neutropenia +MONDO:0001249 MONDO:equivalentTo ICD10WHO:A71 trachoma Trachoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trachoma +MONDO:0001251 MONDO:equivalentTo ICD10WHO:K04.5 chronic apical periodontitis Chronic apical periodontitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic apical periodontitis +MONDO:0001260 MONDO:equivalentTo ICD10WHO:B65.3 cercarial dermatitis Cercarial dermatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cercarial dermatitis +MONDO:0001266 MONDO:equivalentTo ICD10WHO:A46 erysipelas Erysipelas semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erysipelas +MONDO:0001268 MONDO:equivalentTo ICD10WHO:K06.0 gingival recession Gingival recession semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gingival recession +MONDO:0001274 MONDO:equivalentTo ICD10WHO:K59.4 anal spasm Anal spasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anal spasm +MONDO:0001276 MONDO:equivalentTo ICD10WHO:F80.1 expressive language disorder Expressive language disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label expressive language disorder +MONDO:0001284 MONDO:equivalentTo ICD10WHO:N80.5 endometriosis of intestine Endometriosis of intestine semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label endometriosis of intestine +MONDO:0001285 MONDO:equivalentTo ICD10WHO:N80.3 endometriosis of pelvic peritoneum Endometriosis of pelvic peritoneum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label endometriosis of pelvic peritoneum +MONDO:0001287 MONDO:equivalentTo ICD10WHO:N80.6 endometriosis in cutaneous scar Endometriosis in cutaneous scar semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label endometriosis in cutaneous scar +MONDO:0001288 MONDO:equivalentTo ICD10WHO:N80.4 endometriosis of rectovaginal septum and vagina Endometriosis of rectovaginal septum and vagina semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label endometriosis of rectovaginal septum and vagina +MONDO:0001294 MONDO:equivalentTo ICD10WHO:G90.2 Horner syndrome Horner syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label horner syndrome +MONDO:0001295 MONDO:equivalentTo ICD10WHO:G90.0 idiopathic peripheral autonomic neuropathy Idiopathic peripheral autonomic neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic peripheral autonomic neuropathy +MONDO:0001302 MONDO:equivalentTo ICD10WHO:I11 hypertensive heart disease Hypertensive heart disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertensive heart disease +MONDO:0001312 MONDO:equivalentTo ICD10WHO:H65.0 acute serous otitis media Acute serous otitis media semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute serous otitis media +MONDO:0001316 MONDO:equivalentTo ICD10WHO:G00.2 streptococcal meningitis Streptococcal meningitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label streptococcal meningitis +MONDO:0001330 MONDO:equivalentTo ICD10WHO:H52.4 presbyopia Presbyopia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label presbyopia +MONDO:0001332 MONDO:equivalentTo ICD10WHO:M12.3 palindromic rheumatism Palindromic rheumatism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label palindromic rheumatism +MONDO:0001339 MONDO:equivalentTo ICD10WHO:I81 portal vein thrombosis Portal vein thrombosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label portal vein thrombosis +MONDO:0001349 MONDO:equivalentTo ICD10WHO:K02.4 odontoclasia Odontoclasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label odontoclasia +MONDO:0001367 MONDO:equivalentTo ICD10WHO:D73.2 chronic congestive splenomegaly Chronic congestive splenomegaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic congestive splenomegaly +MONDO:0001369 MONDO:equivalentTo ICD10WHO:J37.0 chronic laryngitis Chronic laryngitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic laryngitis +MONDO:0001382 MONDO:equivalentTo ICD10WHO:K76.7 hepatorenal syndrome Hepatorenal syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatorenal syndrome +MONDO:0001383 MONDO:equivalentTo ICD10WHO:H44.2 degenerative myopia Degenerative myopia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label degenerative myopia +MONDO:0001384 MONDO:equivalentTo ICD10WHO:H52.1 myopia Myopia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myopia +MONDO:0001391 MONDO:equivalentTo ICD10WHO:A30.0 indeterminate leprosy Indeterminate leprosy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label indeterminate leprosy +MONDO:0001410 MONDO:equivalentTo ICD10WHO:N95.2 postmenopausal atrophic vaginitis Postmenopausal atrophic vaginitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postmenopausal atrophic vaginitis +MONDO:0001415 MONDO:equivalentTo ICD10WHO:N50.0 atrophy of testis Atrophy of testis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrophy of testis +MONDO:0001443 MONDO:equivalentTo ICD10WHO:H74.0 tympanosclerosis Tympanosclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tympanosclerosis +MONDO:0001444 MONDO:equivalentTo ICD10WHO:B57 Chagas disease Chagas disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chagas disease +MONDO:0001449 MONDO:equivalentTo ICD10WHO:A87.2 lymphocytic choriomeningitis Lymphocytic choriomeningitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphocytic choriomeningitis +MONDO:0001451 MONDO:equivalentTo ICD10WHO:H35.4 peripheral retinal degeneration Peripheral retinal degeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peripheral retinal degeneration +MONDO:0001461 MONDO:equivalentTo ICD10WHO:B35.4 tinea corporis Tinea corporis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tinea corporis +MONDO:0001479 MONDO:equivalentTo ICD10WHO:A36.3 cutaneous diphtheria Cutaneous diphtheria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutaneous diphtheria +MONDO:0001484 MONDO:equivalentTo ICD10WHO:F20.0 paranoid schizophrenia Paranoid schizophrenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paranoid schizophrenia +MONDO:0001492 MONDO:equivalentTo ICD10WHO:I27.1 kyphoscoliotic heart disease Kyphoscoliotic heart disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kyphoscoliotic heart disease +MONDO:0001505 MONDO:equivalentTo ICD10WHO:K70.1 alcoholic hepatitis Alcoholic hepatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alcoholic hepatitis +MONDO:0001506 MONDO:equivalentTo ICD10WHO:N41.3 prostatocystitis Prostatocystitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prostatocystitis +MONDO:0001508 MONDO:equivalentTo ICD10WHO:H69.0 patulous eustachian tube Patulous Eustachian tube semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label patulous eustachian tube +MONDO:0001515 MONDO:equivalentTo ICD10WHO:H18.4 corneal degeneration Corneal degeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corneal degeneration +MONDO:0001540 MONDO:equivalentTo ICD10WHO:J67.1 bagassosis Bagassosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bagassosis +MONDO:0001543 MONDO:equivalentTo ICD10WHO:G57.0 lesion of sciatic nerve Lesion of sciatic nerve semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lesion of sciatic nerve +MONDO:0001551 MONDO:equivalentTo ICD10WHO:N76.6 ulceration of vulva Ulceration of vulva semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ulceration of vulva +MONDO:0001557 MONDO:equivalentTo ICD10WHO:M70.2 olecranon bursitis Olecranon bursitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label olecranon bursitis +MONDO:0001583 MONDO:equivalentTo ICD10WHO:G63.2 diabetic polyneuropathy Diabetic polyneuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diabetic polyneuropathy +MONDO:0001600 MONDO:equivalentTo ICD10WHO:K11.6 mucocele of salivary gland Mucocele of salivary gland semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucocele of salivary gland +MONDO:0001601 MONDO:equivalentTo ICD10WHO:B53.0 Plasmodium ovale malaria Plasmodium ovale malaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label plasmodium ovale malaria +MONDO:0001604 MONDO:equivalentTo ICD10WHO:H02.2 lagophthalmos Lagophthalmos semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lagophthalmos +MONDO:0001616 MONDO:equivalentTo ICD10WHO:B48.0 lobomycosis Lobomycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lobomycosis +MONDO:0001617 MONDO:equivalentTo ICD10WHO:G45.4 transient global amnesia Transient global amnesia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient global amnesia +MONDO:0001618 MONDO:equivalentTo ICD10WHO:N48.1 balanoposthitis Balanoposthitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label balanoposthitis +MONDO:0001620 MONDO:equivalentTo ICD10WHO:A68.0 louse-borne relapsing fever Louse-borne relapsing fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label louse-borne relapsing fever +MONDO:0001621 MONDO:equivalentTo ICD10WHO:A68.1 tick-borne relapsing fever Tick-borne relapsing fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tick-borne relapsing fever +MONDO:0001624 MONDO:equivalentTo ICD10WHO:J01.3 acute sphenoidal sinusitis Acute sphenoidal sinusitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute sphenoidal sinusitis +MONDO:0001625 MONDO:equivalentTo ICD10WHO:N83.1 corpus luteum cyst Corpus luteum cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corpus luteum cyst +MONDO:0001628 MONDO:equivalentTo ICD10WHO:B35.1 tinea unguium Tinea unguium semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tinea unguium +MONDO:0001633 MONDO:equivalentTo ICD10WHO:H34.1 central retinal artery occlusion Central retinal artery occlusion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central retinal artery occlusion +MONDO:0001641 MONDO:equivalentTo ICD10WHO:O14.1 severe pre-eclampsia Severe pre-eclampsia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label severe pre-eclampsia +MONDO:0001650 MONDO:equivalentTo ICD10WHO:N30.0 acute cystitis Acute cystitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute cystitis +MONDO:0001687 MONDO:equivalentTo ICD10WHO:H28.0 diabetic cataract Diabetic cataract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diabetic cataract +MONDO:0001689 MONDO:equivalentTo ICD10WHO:K14.3 hypertrophy of tongue papillae Hypertrophy of tongue papillae semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertrophy of tongue papillae +MONDO:0001699 MONDO:equivalentTo ICD10WHO:B35.2 tinea manuum Tinea manuum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tinea manuum +MONDO:0001701 MONDO:equivalentTo ICD10WHO:A22.2 gastrointestinal anthrax Gastrointestinal anthrax semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gastrointestinal anthrax +MONDO:0001710 MONDO:equivalentTo ICD10WHO:K83.2 perforation of bile duct Perforation of bile duct semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label perforation of bile duct +MONDO:0001718 MONDO:equivalentTo ICD10WHO:H15.0 scleritis Scleritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scleritis +MONDO:0001719 MONDO:equivalentTo ICD10WHO:M73.0 gonococcal bursitis Gonococcal bursitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gonococcal bursitis +MONDO:0001732 MONDO:equivalentTo ICD10WHO:N30.3 trigonitis Trigonitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trigonitis +MONDO:0001734 MONDO:equivalentTo ICD10WHO:Q85.1 tuberous sclerosis Tuberous sclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tuberous sclerosis +MONDO:0001736 MONDO:equivalentTo ICD10WHO:P39.0 neonatal infective mastitis Neonatal infective mastitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal infective mastitis +MONDO:0001737 MONDO:equivalentTo ICD10WHO:A33 tetanus neonatorum Tetanus neonatorum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetanus neonatorum +MONDO:0001753 MONDO:equivalentTo ICD10WHO:N97.2 female infertility of uterine origin Female infertility of uterine origin semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label female infertility of uterine origin +MONDO:0001754 MONDO:equivalentTo ICD10WHO:O15 eclampsia Eclampsia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eclampsia +MONDO:0001772 MONDO:equivalentTo ICD10WHO:K62.6 ulcer of anus and rectum Ulcer of anus and rectum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ulcer of anus and rectum +MONDO:0001780 MONDO:equivalentTo ICD10WHO:F52.4 premature ejaculation Premature ejaculation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label premature ejaculation +MONDO:0001797 MONDO:equivalentTo ICD10WHO:A57 chancroid Chancroid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chancroid +MONDO:0001798 MONDO:equivalentTo ICD10WHO:M35.7 hypermobility syndrome Hypermobility syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypermobility syndrome +MONDO:0001823 MONDO:equivalentTo ICD10WHO:I49.5 sick sinus syndrome Sick sinus syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sick sinus syndrome +MONDO:0001827 MONDO:equivalentTo ICD10WHO:B36.2 white piedra White piedra semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label white piedra +MONDO:0001830 MONDO:equivalentTo ICD10WHO:F45.0 somatization disorder Somatization disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label somatization disorder +MONDO:0001859 MONDO:equivalentTo ICD10WHO:M89.0 algoneurodystrophy Algoneurodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label algoneurodystrophy +MONDO:0001868 MONDO:equivalentTo ICD10WHO:H40.2 primary angle-closure glaucoma Primary angle-closure glaucoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary angle-closure glaucoma +MONDO:0001873 MONDO:equivalentTo ICD10WHO:G51.1 geniculate ganglionitis Geniculate ganglionitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label geniculate ganglionitis +MONDO:0001880 MONDO:equivalentTo ICD10WHO:K14.2 median rhomboid glossitis Median rhomboid glossitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label median rhomboid glossitis +MONDO:0001881 MONDO:equivalentTo ICD10WHO:A48.3 toxic shock syndrome Toxic shock syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toxic shock syndrome +MONDO:0001889 MONDO:equivalentTo ICD10WHO:E28 ovarian dysfunction Ovarian dysfunction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ovarian dysfunction +MONDO:0001896 MONDO:equivalentTo ICD10WHO:G91.1 obstructive hydrocephalus Obstructive hydrocephalus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label obstructive hydrocephalus +MONDO:0001903 MONDO:equivalentTo ICD10WHO:M65.2 calcific tendinitis Calcific tendinitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label calcific tendinitis +MONDO:0001912 MONDO:equivalentTo ICD10WHO:J01.1 acute frontal sinusitis Acute frontal sinusitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute frontal sinusitis +MONDO:0001927 MONDO:equivalentTo ICD10WHO:I37.1 pulmonary valve insufficiency Pulmonary valve insufficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary valve insufficiency +MONDO:0001942 MONDO:equivalentTo ICD10WHO:F41.1 generalized anxiety disorder Generalized anxiety disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label generalized anxiety disorder +MONDO:0001943 MONDO:equivalentTo ICD10WHO:B52 Plasmodium malariae malaria Plasmodium malariae malaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label plasmodium malariae malaria +MONDO:0001949 MONDO:equivalentTo ICD10WHO:E06.0 acute thyroiditis Acute thyroiditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute thyroiditis +MONDO:0001954 MONDO:equivalentTo ICD10WHO:I82.1 thrombophlebitis migrans Thrombophlebitis migrans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thrombophlebitis migrans +MONDO:0001964 MONDO:equivalentTo ICD10WHO:H66.1 chronic tubotympanic suppurative otitis media Chronic tubotympanic suppurative otitis media semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic tubotympanic suppurative otitis media +MONDO:0001999 MONDO:equivalentTo ICD10WHO:I27.0 primary pulmonary hypertension Primary pulmonary hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary pulmonary hypertension +MONDO:0002008 MONDO:equivalentTo ICD10WHO:H83.0 labyrinthitis Labyrinthitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label labyrinthitis +MONDO:0002026 MONDO:equivalentTo ICD10WHO:B37 candidiasis Candidiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label candidiasis +MONDO:0002045 MONDO:equivalentTo ICD10WHO:G91.0 communicating hydrocephalus Communicating hydrocephalus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label communicating hydrocephalus +MONDO:0002070 MONDO:equivalentTo ICD10WHO:Q21.0 ventricular septal defect Ventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ventricular septal defect +MONDO:0002075 MONDO:equivalentTo ICD10WHO:J93.0 spontaneous tension pneumothorax Spontaneous tension pneumothorax semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spontaneous tension pneumothorax +MONDO:0002076 MONDO:equivalentTo ICD10WHO:J93 pneumothorax Pneumothorax semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pneumothorax +MONDO:0002125 MONDO:equivalentTo ICD10WHO:G41 status epilepticus Status epilepticus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label status epilepticus +MONDO:0002127 MONDO:equivalentTo ICD10WHO:N35 urethral stricture Urethral stricture semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label urethral stricture +MONDO:0002128 MONDO:equivalentTo ICD10WHO:G58.7 mononeuritis multiplex Mononeuritis multiplex semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mononeuritis multiplex +MONDO:0002133 MONDO:equivalentTo ICD10WHO:I09.2 chronic rheumatic pericarditis Chronic rheumatic pericarditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic rheumatic pericarditis +MONDO:0002137 MONDO:equivalentTo ICD10WHO:H01.1 noninfectious dermatoses of eyelid Noninfectious dermatoses of eyelid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label noninfectious dermatoses of eyelid +MONDO:0002153 MONDO:equivalentTo ICD10WHO:L65.0 telogen effluvium Telogen effluvium semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label telogen effluvium +MONDO:0002154 MONDO:equivalentTo ICD10WHO:A59 trichomoniasis Trichomoniasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichomoniasis +MONDO:0002155 MONDO:equivalentTo ICD10WHO:K81 cholecystitis Cholecystitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholecystitis +MONDO:0002175 MONDO:equivalentTo ICD10WHO:H35.3 degeneration of macula and posterior pole Degeneration of macula and posterior pole semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label degeneration of macula and posterior pole +MONDO:0002186 MONDO:equivalentTo ICD10WHO:J01.0 acute maxillary sinusitis Acute maxillary sinusitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute maxillary sinusitis +MONDO:0002196 MONDO:equivalentTo ICD10WHO:P78.0 perinatal intestinal perforation Perinatal intestinal perforation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label perinatal intestinal perforation +MONDO:0002253 MONDO:equivalentTo ICD10WHO:M47 spondylosis Spondylosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylosis +MONDO:0002307 MONDO:equivalentTo ICD10WHO:H10.5 blepharoconjunctivitis Blepharoconjunctivitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blepharoconjunctivitis +MONDO:0002314 MONDO:equivalentTo ICD10WHO:H10.4 chronic conjunctivitis Chronic conjunctivitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic conjunctivitis +MONDO:0002342 MONDO:equivalentTo ICD10WHO:M94.2 chondromalacia Chondromalacia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chondromalacia +MONDO:0002419 MONDO:equivalentTo ICD10WHO:F95.0 transient tic disorder Transient tic disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient tic disorder +MONDO:0002473 MONDO:equivalentTo ICD10WHO:Q61 cystic kidney disease Cystic kidney disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cystic kidney disease +MONDO:0002594 MONDO:equivalentTo ICD10WHO:B04 monkeypox Monkeypox semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monkeypox +MONDO:0002613 MONDO:equivalentTo ICD10WHO:F60.4 histrionic personality disorder Histrionic personality disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label histrionic personality disorder +MONDO:0002660 MONDO:equivalentTo ICD10WHO:H02.3 blepharochalasis Blepharochalasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blepharochalasis +MONDO:0002679 MONDO:equivalentTo ICD10WHO:I63 cerebral infarction Cerebral infarction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebral infarction +MONDO:0002754 MONDO:equivalentTo ICD10WHO:C90.2 extramedullary plasmacytoma Extramedullary plasmacytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extramedullary plasmacytoma +MONDO:0002815 MONDO:equivalentTo ICD10WHO:I40 acute myocarditis Acute myocarditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myocarditis +MONDO:0002885 MONDO:equivalentTo ICD10WHO:L08.1 erythrasma Erythrasma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythrasma +MONDO:0002922 MONDO:equivalentTo ICD10WHO:L08.0 pyoderma Pyoderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyoderma +MONDO:0002959 MONDO:equivalentTo ICD10WHO:M54.1 radiculopathy Radiculopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radiculopathy +MONDO:0003009 MONDO:equivalentTo ICD10WHO:E26 hyperaldosteronism Hyperaldosteronism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperaldosteronism +MONDO:0003040 MONDO:equivalentTo ICD10WHO:R41.2 retrograde amnesia Retrograde amnesia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retrograde amnesia +MONDO:0003085 MONDO:equivalentTo ICD10WHO:H16 keratitis Keratitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratitis +MONDO:0003231 MONDO:equivalentTo ICD10WHO:A80.4 acute nonparalytic poliomyelitis Acute nonparalytic poliomyelitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute nonparalytic poliomyelitis +MONDO:0003233 MONDO:equivalentTo ICD10WHO:G25.0 essential tremor Essential tremor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label essential tremor +MONDO:0003398 MONDO:equivalentTo ICD10WHO:R41.1 anterograde amnesia Anterograde amnesia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anterograde amnesia +MONDO:0003417 MONDO:equivalentTo ICD10WHO:H51.2 internuclear ophthalmoplegia Internuclear ophthalmoplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label internuclear ophthalmoplegia +MONDO:0003608 MONDO:equivalentTo ICD10WHO:H47.2 optic atrophy Optic atrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label optic atrophy +MONDO:0003709 MONDO:equivalentTo ICD10WHO:F40.0 agoraphobia Agoraphobia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label agoraphobia +MONDO:0003799 MONDO:equivalentTo ICD10WHO:H10 conjunctivitis Conjunctivitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label conjunctivitis +MONDO:0004126 MONDO:equivalentTo ICD10WHO:E06 thyroiditis Thyroiditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyroiditis +MONDO:0004215 MONDO:equivalentTo ICD10WHO:A22.0 cutaneous anthrax Cutaneous anthrax semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutaneous anthrax +MONDO:0004223 MONDO:equivalentTo ICD10WHO:H74.4 polyp of middle ear Polyp of middle ear semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyp of middle ear +MONDO:0004514 MONDO:equivalentTo ICD10WHO:J31.0 chronic rhinitis Chronic rhinitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic rhinitis +MONDO:0004522 MONDO:equivalentTo ICD10WHO:K65 peritonitis Peritonitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peritonitis +MONDO:0004525 MONDO:equivalentTo ICD10WHO:B86 scabies Scabies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scabies +MONDO:0004568 MONDO:equivalentTo ICD10WHO:K56.0 paralytic ileus Paralytic ileus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paralytic ileus +MONDO:0004577 MONDO:equivalentTo ICD10WHO:H16.0 corneal ulcer Corneal ulcer semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corneal ulcer +MONDO:0004582 MONDO:equivalentTo ICD10WHO:I09.0 rheumatic myocarditis Rheumatic myocarditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rheumatic myocarditis +MONDO:0004585 MONDO:equivalentTo ICD10WHO:O40 polyhydramnios Polyhydramnios semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyhydramnios +MONDO:0004586 MONDO:equivalentTo ICD10WHO:J99.0 rheumatoid lung disease Rheumatoid lung disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rheumatoid lung disease +MONDO:0004586 MONDO:equivalentTo ICD10WHO:M05.1 rheumatoid lung disease Rheumatoid lung disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rheumatoid lung disease +MONDO:0004588 MONDO:equivalentTo ICD10WHO:H53.6 night blindness Night blindness semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label night blindness +MONDO:0004592 MONDO:equivalentTo ICD10WHO:L01 impetigo Impetigo semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label impetigo +MONDO:0004619 MONDO:equivalentTo ICD10WHO:B05 measles Measles semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label measles +MONDO:0004627 MONDO:equivalentTo ICD10WHO:K29.8 duodenitis Duodenitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label duodenitis +MONDO:0004640 MONDO:equivalentTo ICD10WHO:K29.2 alcoholic gastritis Alcoholic gastritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alcoholic gastritis +MONDO:0004648 MONDO:equivalentTo ICD10WHO:F01 vascular dementia Vascular dementia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vascular dementia +MONDO:0004651 MONDO:equivalentTo ICD10WHO:B03 smallpox Smallpox semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label smallpox +MONDO:0004665 MONDO:equivalentTo ICD10WHO:C81.1 nodular sclerosis classical Hodgkin lymphoma Nodular sclerosis classical Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nodular sclerosis classical hodgkin lymphoma +MONDO:0004668 MONDO:equivalentTo ICD10WHO:B66.3 fascioliasis Fascioliasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fascioliasis +MONDO:0004670 MONDO:equivalentTo ICD10WHO:L93 lupus erythematosus Lupus erythematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lupus erythematosus +MONDO:0004672 MONDO:equivalentTo ICD10WHO:B66.5 fasciolopsiasis Fasciolopsiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fasciolopsiasis +MONDO:0004677 MONDO:equivalentTo ICD10WHO:B36.1 tinea nigra Tinea nigra semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tinea nigra +MONDO:0004678 MONDO:equivalentTo ICD10WHO:B35 dermatophytosis Dermatophytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dermatophytosis +MONDO:0004679 MONDO:equivalentTo ICD10WHO:N89.4 leukoplakia of vagina Leukoplakia of vagina semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukoplakia of vagina +MONDO:0004717 MONDO:equivalentTo ICD10WHO:K76.4 peliosis hepatis Peliosis hepatis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peliosis hepatis +MONDO:0004745 MONDO:equivalentTo ICD10WHO:N48.3 priapism Priapism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label priapism +MONDO:0004747 MONDO:equivalentTo ICD10WHO:Q36 cleft lip Cleft lip semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft lip +MONDO:0004753 MONDO:equivalentTo ICD10WHO:H50.6 mechanical strabismus Mechanical strabismus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mechanical strabismus +MONDO:0004754 MONDO:equivalentTo ICD10WHO:K62.3 rectal prolapse Rectal prolapse semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rectal prolapse +MONDO:0004757 MONDO:equivalentTo ICD10WHO:J32.2 chronic ethmoidal sinusitis Chronic ethmoidal sinusitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic ethmoidal sinusitis +MONDO:0004766 MONDO:equivalentTo ICD10WHO:J46 status asthmaticus Status asthmaticus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label status asthmaticus +MONDO:0004768 MONDO:equivalentTo ICD10WHO:H16.2 keratoconjunctivitis Keratoconjunctivitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratoconjunctivitis +MONDO:0004773 MONDO:equivalentTo ICD10WHO:H20 iridocyclitis Iridocyclitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label iridocyclitis +MONDO:0004775 MONDO:equivalentTo ICD10WHO:H20.2 lens-induced iridocyclitis Lens-induced iridocyclitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lens-induced iridocyclitis +MONDO:0004777 MONDO:equivalentTo ICD10WHO:J04.0 acute laryngitis Acute laryngitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute laryngitis +MONDO:0004781 MONDO:equivalentTo ICD10WHO:I21 acute myocardial infarction Acute myocardial infarction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute myocardial infarction +MONDO:0004782 MONDO:equivalentTo ICD10WHO:E23.2 diabetes insipidus Diabetes insipidus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diabetes insipidus +MONDO:0004785 MONDO:equivalentTo ICD10WHO:H01.0 blepharitis Blepharitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blepharitis +MONDO:0004789 MONDO:equivalentTo ICD10WHO:K83.0 cholangitis Cholangitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholangitis +MONDO:0004795 MONDO:equivalentTo ICD10WHO:H60 otitis externa Otitis externa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label otitis externa +MONDO:0004804 MONDO:equivalentTo ICD10WHO:H04.0 dacryoadenitis Dacryoadenitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dacryoadenitis +MONDO:0004808 MONDO:equivalentTo ICD10WHO:N60 benign mammary dysplasia Benign mammary dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign mammary dysplasia +MONDO:0004822 MONDO:equivalentTo ICD10WHO:J47 bronchiectasis Bronchiectasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bronchiectasis +MONDO:0004824 MONDO:equivalentTo ICD10WHO:P37.5 neonatal candidiasis Neonatal candidiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal candidiasis +MONDO:0004835 MONDO:equivalentTo ICD10WHO:M72.6 necrotizing fasciitis Necrotizing fasciitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label necrotizing fasciitis +MONDO:0004847 MONDO:equivalentTo ICD10WHO:H25 senile cataract Senile cataract semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label senile cataract +MONDO:0004859 MONDO:equivalentTo ICD10WHO:K82.1 hydrops of gallbladder Hydrops of gallbladder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hydrops of gallbladder +MONDO:0004863 MONDO:equivalentTo ICD10WHO:H44.0 purulent endophthalmitis Purulent endophthalmitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label purulent endophthalmitis +MONDO:0004869 MONDO:equivalentTo ICD10WHO:I86.2 pelvic varices Pelvic varices semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pelvic varices +MONDO:0004877 MONDO:equivalentTo ICD10WHO:P61.0 transient neonatal thrombocytopenia Transient neonatal thrombocytopenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient neonatal thrombocytopenia +MONDO:0004911 MONDO:equivalentTo ICD10WHO:A52.0 cardiovascular syphilis Cardiovascular syphilis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiovascular syphilis +MONDO:0004911 MONDO:equivalentTo ICD10WHO:I98.0 cardiovascular syphilis Cardiovascular syphilis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiovascular syphilis +MONDO:0004919 MONDO:equivalentTo ICD10WHO:N43.1 infected hydrocele Infected hydrocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infected hydrocele +MONDO:0004933 MONDO:equivalentTo ICD10WHO:Q23.4 hypoplastic left heart syndrome Hypoplastic left heart syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypoplastic left heart syndrome +MONDO:0004937 MONDO:equivalentTo ICD10WHO:E67.3 hypervitaminosis D Hypervitaminosis D semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypervitaminosis d +MONDO:0004975 MONDO:equivalentTo ICD10WHO:G30 Alzheimer disease Alzheimer disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alzheimer disease +MONDO:0004977 MONDO:equivalentTo ICD10WHO:C86.5 angioimmunoblastic T-cell lymphoma Angioimmunoblastic T-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angioimmunoblastic t-cell lymphoma +MONDO:0004979 MONDO:equivalentTo ICD10WHO:J45 asthma Asthma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label asthma +MONDO:0004994 MONDO:equivalentTo ICD10WHO:I42 cardiomyopathy Cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiomyopathy +MONDO:0005009 MONDO:equivalentTo ICD10WHO:I50.0 congestive heart failure Congestive heart failure semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congestive heart failure +MONDO:0005015 MONDO:equivalentTo ICD10WHO:E10-E14 diabetes mellitus Diabetes mellitus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diabetes mellitus +MONDO:0005021 MONDO:equivalentTo ICD10WHO:I42.0 dilated cardiomyopathy Dilated cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dilated cardiomyopathy +MONDO:0005041 MONDO:equivalentTo ICD10WHO:H40 glaucoma Glaucoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glaucoma +MONDO:0005041 MONDO:equivalentTo ICD10WHO:H40-H42 glaucoma Glaucoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glaucoma +MONDO:0005052 MONDO:equivalentTo ICD10WHO:K58 irritable bowel syndrome Irritable bowel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label irritable bowel syndrome +MONDO:0005065 MONDO:equivalentTo ICD10WHO:C45 mesothelioma Mesothelioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mesothelioma +MONDO:0005080 MONDO:equivalentTo ICD10WHO:K76.6 portal hypertension Portal hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label portal hypertension +MONDO:0005083 MONDO:equivalentTo ICD10WHO:L40 psoriasis Psoriasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label psoriasis +MONDO:0005085 MONDO:equivalentTo ICD10WHO:H11.0 pterygium Pterygium semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pterygium +MONDO:0005090 MONDO:equivalentTo ICD10WHO:F20 schizophrenia Schizophrenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label schizophrenia +MONDO:0005100 MONDO:equivalentTo ICD10WHO:M34 systemic sclerosis Systemic sclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label systemic sclerosis +MONDO:0005101 MONDO:equivalentTo ICD10WHO:K51 ulcerative colitis Ulcerative colitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ulcerative colitis +MONDO:0005125 MONDO:equivalentTo ICD10WHO:A30.3 borderline leprosy Borderline leprosy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label borderline leprosy +MONDO:0005126 MONDO:equivalentTo ICD10WHO:A30.1 tuberculoid leprosy Tuberculoid leprosy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tuberculoid leprosy +MONDO:0005127 MONDO:equivalentTo ICD10WHO:A30.5 lepromatous leprosy Lepromatous leprosy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lepromatous leprosy +MONDO:0005133 MONDO:equivalentTo ICD10WHO:N80 endometriosis Endometriosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label endometriosis +MONDO:0005146 MONDO:equivalentTo ICD10WHO:F43.1 post-traumatic stress disorder Post-traumatic stress disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label post-traumatic stress disorder +MONDO:0005147 MONDO:equivalentTo ICD10WHO:E10 type 1 diabetes mellitus Type 1 diabetes mellitus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label type 1 diabetes mellitus +MONDO:0005148 MONDO:equivalentTo ICD10WHO:E11 type 2 diabetes mellitus Type 2 diabetes mellitus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label type 2 diabetes mellitus +MONDO:0005152 MONDO:equivalentTo ICD10WHO:E23.0 hypopituitarism Hypopituitarism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypopituitarism +MONDO:0005173 MONDO:equivalentTo ICD10WHO:L57.0 actinic keratosis Actinic keratosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label actinic keratosis +MONDO:0005180 MONDO:equivalentTo ICD10WHO:G20 Parkinson disease Parkinson disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label parkinson disease +MONDO:0005181 MONDO:equivalentTo ICD10WHO:H49.4 progressive external ophthalmoplegia Progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive external ophthalmoplegia +MONDO:0005230 MONDO:equivalentTo ICD10WHO:L03 cellulitis Cellulitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cellulitis +MONDO:0005246 MONDO:equivalentTo ICD10WHO:M86 osteomyelitis Osteomyelitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteomyelitis +MONDO:0005252 MONDO:equivalentTo ICD10WHO:I50 heart failure Heart failure semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label heart failure +MONDO:0005259 MONDO:equivalentTo ICD10WHO:F84.5 Asperger syndrome Asperger syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label asperger syndrome +MONDO:0005266 MONDO:equivalentTo ICD10WHO:H36.0 diabetic retinopathy Diabetic retinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diabetic retinopathy +MONDO:0005276 MONDO:equivalentTo ICD10WHO:K02 dental caries Dental caries semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dental caries +MONDO:0005279 MONDO:equivalentTo ICD10WHO:I26 pulmonary embolism Pulmonary embolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary embolism +MONDO:0005300 MONDO:equivalentTo ICD10WHO:N18 chronic kidney disease Chronic kidney disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic kidney disease +MONDO:0005301 MONDO:equivalentTo ICD10WHO:G35 multiple sclerosis Multiple sclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple sclerosis +MONDO:0005306 MONDO:equivalentTo ICD10WHO:M45 ankylosing spondylitis Ankylosing spondylitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ankylosing spondylitis +MONDO:0005311 MONDO:equivalentTo ICD10WHO:I70 atherosclerosis Atherosclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atherosclerosis +MONDO:0005326 MONDO:equivalentTo ICD10WHO:L55 sunburn Sunburn semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sunburn +MONDO:0005340 MONDO:equivalentTo ICD10WHO:L63 alopecia areata Alopecia areata semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alopecia areata +MONDO:0005345 MONDO:equivalentTo ICD10WHO:Q54 hypospadias Hypospadias semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypospadias +MONDO:0005349 MONDO:equivalentTo ICD10WHO:H80 otosclerosis Otosclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label otosclerosis +MONDO:0005351 MONDO:equivalentTo ICD10WHO:F50.0 anorexia nervosa Anorexia nervosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anorexia nervosa +MONDO:0005372 MONDO:equivalentTo ICD10WHO:N46 male infertility Male infertility semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label male infertility +MONDO:0005373 MONDO:equivalentTo ICD10WHO:A39 meningococcal infection Meningococcal infection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label meningococcal infection +MONDO:0005377 MONDO:equivalentTo ICD10WHO:N04 nephrotic syndrome Nephrotic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nephrotic syndrome +MONDO:0005380 MONDO:equivalentTo ICD10WHO:M87 osteonecrosis Osteonecrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteonecrosis +MONDO:0005387 MONDO:equivalentTo ICD10WHO:E28.3 primary ovarian failure Primary ovarian failure semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary ovarian failure +MONDO:0005392 MONDO:equivalentTo ICD10WHO:M41 scoliosis Scoliosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scoliosis +MONDO:0005393 MONDO:equivalentTo ICD10WHO:M10 gout Gout semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gout +MONDO:0005412 MONDO:equivalentTo ICD10WHO:K26 duodenal ulcer Duodenal ulcer semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label duodenal ulcer +MONDO:0005445 MONDO:equivalentTo ICD10WHO:B55.0 visceral leishmaniasis Visceral leishmaniasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label visceral leishmaniasis +MONDO:0005446 MONDO:equivalentTo ICD10WHO:B55.1 cutaneous leishmaniasis Cutaneous leishmaniasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutaneous leishmaniasis +MONDO:0005452 MONDO:equivalentTo ICD10WHO:F50.2 bulimia nervosa Bulimia nervosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bulimia nervosa +MONDO:0005469 MONDO:equivalentTo ICD10WHO:I95.1 orthostatic hypotension Orthostatic hypotension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label orthostatic hypotension +MONDO:0005477 MONDO:equivalentTo ICD10WHO:I47.2 ventricular tachycardia Ventricular tachycardia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ventricular tachycardia +MONDO:0005492 MONDO:equivalentTo ICD10WHO:L50 urticaria Urticaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label urticaria +MONDO:0005498 MONDO:equivalentTo ICD10WHO:A05.1 botulism Botulism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label botulism +MONDO:0005504 MONDO:equivalentTo ICD10WHO:A36 diphtheria Diphtheria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diphtheria +MONDO:0005527 MONDO:equivalentTo ICD10WHO:G92 toxic encephalopathy Toxic encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toxic encephalopathy +MONDO:0005541 MONDO:equivalentTo ICD10WHO:M43.0 spondylolysis Spondylolysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylolysis +MONDO:0005546 MONDO:equivalentTo ICD10WHO:M79.7 fibromyalgia Fibromyalgia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fibromyalgia +MONDO:0005593 MONDO:equivalentTo ICD10WHO:K05.3 chronic periodontitis Chronic periodontitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic periodontitis +MONDO:0005619 MONDO:equivalentTo ICD10WHO:A01.0 typhoid fever Typhoid fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label typhoid fever +MONDO:0005620 MONDO:equivalentTo ICD10WHO:I68.0 cerebral amyloid angiopathy Cerebral amyloid angiopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebral amyloid angiopathy +MONDO:0005631 MONDO:equivalentTo ICD10WHO:A42 actinomycosis Actinomycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label actinomycosis +MONDO:0005638 MONDO:equivalentTo ICD10WHO:R48.1 agnosia Agnosia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label agnosia +MONDO:0005645 MONDO:equivalentTo ICD10WHO:B76.0 ancylostomiasis Ancylostomiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ancylostomiasis +MONDO:0005654 MONDO:equivalentTo ICD10WHO:B77 ascariasis Ascariasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ascariasis +MONDO:0005657 MONDO:equivalentTo ICD10WHO:B44 aspergillosis Aspergillosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aspergillosis +MONDO:0005661 MONDO:equivalentTo ICD10WHO:B60.0 babesiosis Babesiosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label babesiosis +MONDO:0005662 MONDO:equivalentTo ICD10WHO:A07.0 balantidiasis Balantidiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label balantidiasis +MONDO:0005664 MONDO:equivalentTo ICD10WHO:A44 bartonellosis Bartonellosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bartonellosis +MONDO:0005669 MONDO:equivalentTo ICD10WHO:B36.3 black piedra Black piedra semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label black piedra +MONDO:0005672 MONDO:equivalentTo ICD10WHO:B40 blastomycosis Blastomycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blastomycosis +MONDO:0005683 MONDO:equivalentTo ICD10WHO:A23 brucellosis Brucellosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brucellosis +MONDO:0005692 MONDO:equivalentTo ICD10WHO:A28.1 cat-scratch disease Cat-scratch disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cat-scratch disease +MONDO:0005693 MONDO:equivalentTo ICD10WHO:G83.4 cauda equina syndrome Cauda equina syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cauda equina syndrome +MONDO:0005699 MONDO:equivalentTo ICD10WHO:A42.2 cervicofacial actinomycosis Cervicofacial actinomycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cervicofacial actinomycosis +MONDO:0005705 MONDO:equivalentTo ICD10WHO:B66.1 clonorchiasis Clonorchiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label clonorchiasis +MONDO:0005706 MONDO:equivalentTo ICD10WHO:B38 coccidioidomycosis Coccidioidomycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coccidioidomycosis +MONDO:0005708 MONDO:equivalentTo ICD10WHO:A93.2 Colorado tick fever Colorado tick fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label colorado tick fever +MONDO:0005711 MONDO:equivalentTo ICD10WHO:Q79.0 congenital diaphragmatic hernia Congenital diaphragmatic hernia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital diaphragmatic hernia +MONDO:0005714 MONDO:equivalentTo ICD10WHO:A50 congenital syphilis Congenital syphilis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital syphilis +MONDO:0005715 MONDO:equivalentTo ICD10WHO:P37.1 congenital toxoplasmosis Congenital toxoplasmosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital toxoplasmosis +MONDO:0005724 MONDO:equivalentTo ICD10WHO:B45 cryptococcosis Cryptococcosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cryptococcosis +MONDO:0005729 MONDO:equivalentTo ICD10WHO:B66.2 dicrocoeliasis Dicrocoeliasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dicrocoeliasis +MONDO:0005736 MONDO:equivalentTo ICD10WHO:A83.2 eastern equine encephalitis Eastern equine encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eastern equine encephalitis +MONDO:0005738 MONDO:equivalentTo ICD10WHO:B67 echinococcosis Echinococcosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label echinococcosis +MONDO:0005746 MONDO:equivalentTo ICD10WHO:B80 enterobiasis Enterobiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label enterobiasis +MONDO:0005767 MONDO:equivalentTo ICD10WHO:A48.0 gas gangrene Gas gangrene semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gas gangrene +MONDO:0005771 MONDO:equivalentTo ICD10WHO:K14.1 geographic tongue Geographic tongue semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label geographic tongue +MONDO:0005772 MONDO:equivalentTo ICD10WHO:B48.3 geotrichosis Geotrichosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label geotrichosis +MONDO:0005774 MONDO:equivalentTo ICD10WHO:A24.0 glanders Glanders semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glanders +MONDO:0005777 MONDO:equivalentTo ICD10WHO:A58 granuloma inguinale Granuloma inguinale semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label granuloma inguinale +MONDO:0005802 MONDO:equivalentTo ICD10WHO:B71.0 hymenolepiasis Hymenolepiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hymenolepiasis +MONDO:0005810 MONDO:equivalentTo ICD10WHO:B27 infectious mononucleosis Infectious mononucleosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infectious mononucleosis +MONDO:0005820 MONDO:equivalentTo ICD10WHO:A96.2 Lassa fever Lassa fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lassa fever +MONDO:0005825 MONDO:equivalentTo ICD10WHO:A27 leptospirosis Leptospirosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leptospirosis +MONDO:0005828 MONDO:equivalentTo ICD10WHO:A32 listeriosis Listeriosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label listeriosis +MONDO:0005832 MONDO:equivalentTo ICD10WHO:I89.1 lymphangitis Lymphangitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphangitis +MONDO:0005838 MONDO:equivalentTo ICD10WHO:B74.4 mansonelliasis Mansonelliasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mansonelliasis +MONDO:0005844 MONDO:equivalentTo ICD10WHO:H00.1 chalazion Chalazion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chalazion +MONDO:0005848 MONDO:equivalentTo ICD10WHO:A19 miliary tuberculosis Miliary tuberculosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label miliary tuberculosis +MONDO:0005855 MONDO:equivalentTo ICD10WHO:B08.1 molluscum contagiosum Molluscum contagiosum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label molluscum contagiosum +MONDO:0005859 MONDO:equivalentTo ICD10WHO:B55.2 mucocutaneous leishmaniasis Mucocutaneous leishmaniasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucocutaneous leishmaniasis +MONDO:0005870 MONDO:equivalentTo ICD10WHO:B76.1 necatoriasis Necatoriasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label necatoriasis +MONDO:0005881 MONDO:equivalentTo ICD10WHO:O41.0 oligohydramnios Oligohydramnios semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oligohydramnios +MONDO:0005884 MONDO:equivalentTo ICD10WHO:B66.0 opisthorchiasis Opisthorchiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label opisthorchiasis +MONDO:0005885 MONDO:equivalentTo ICD10WHO:H46 optic neuritis Optic neuritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label optic neuritis +MONDO:0005894 MONDO:equivalentTo ICD10WHO:B41 paracoccidioidomycosis Paracoccidioidomycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paracoccidioidomycosis +MONDO:0005895 MONDO:equivalentTo ICD10WHO:B66.4 paragonimiasis Paragonimiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label paragonimiasis +MONDO:0005901 MONDO:equivalentTo ICD10WHO:A28.0 pasteurellosis Pasteurellosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pasteurellosis +MONDO:0005906 MONDO:equivalentTo ICD10WHO:J36 peritonsillar abscess Peritonsillar abscess semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peritonsillar abscess +MONDO:0005915 MONDO:equivalentTo ICD10WHO:B36.0 pityriasis versicolor Pityriasis versicolor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pityriasis versicolor +MONDO:0005918 MONDO:equivalentTo ICD10WHO:O44 placenta praevia Placenta praevia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label placenta praevia +MONDO:0005920 MONDO:equivalentTo ICD10WHO:B50 Plasmodium falciparum malaria Plasmodium falciparum malaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label plasmodium falciparum malaria +MONDO:0005921 MONDO:equivalentTo ICD10WHO:B51 Plasmodium vivax malaria Plasmodium vivax malaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label plasmodium vivax malaria +MONDO:0005942 MONDO:equivalentTo ICD10WHO:G93.7 Reye syndrome Reye syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label reye syndrome +MONDO:0005946 MONDO:equivalentTo ICD10WHO:B48.1 rhinosporidiosis Rhinosporidiosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhinosporidiosis +MONDO:0005952 MONDO:equivalentTo ICD10WHO:A38 scarlet fever Scarlet fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scarlet fever +MONDO:0005963 MONDO:equivalentTo ICD10WHO:B70.1 sparganosis Sparganosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sparganosis +MONDO:0005965 MONDO:equivalentTo ICD10WHO:M48.0 spinal stenosis Spinal stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinal stenosis +MONDO:0005968 MONDO:equivalentTo ICD10WHO:B42 sporotrichosis Sporotrichosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sporotrichosis +MONDO:0005974 MONDO:equivalentTo ICD10WHO:B78 strongyloidiasis Strongyloidiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label strongyloidiasis +MONDO:0005984 MONDO:equivalentTo ICD10WHO:B35.3 tinea pedis Tinea pedis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tinea pedis +MONDO:0005989 MONDO:equivalentTo ICD10WHO:B58 toxoplasmosis Toxoplasmosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toxoplasmosis +MONDO:0005991 MONDO:equivalentTo ICD10WHO:A79.0 trench fever Trench fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trench fever +MONDO:0005996 MONDO:equivalentTo ICD10WHO:B79 trichuriasis Trichuriasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichuriasis +MONDO:0006000 MONDO:equivalentTo ICD10WHO:K67.3 tuberculous peritonitis Tuberculous peritonitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tuberculous peritonitis +MONDO:0006004 MONDO:equivalentTo ICD10WHO:J30.0 vasomotor rhinitis Vasomotor rhinitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vasomotor rhinitis +MONDO:0006008 MONDO:equivalentTo ICD10WHO:H81.2 vestibular neuronitis Vestibular neuronitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vestibular neuronitis +MONDO:0006011 MONDO:equivalentTo ICD10WHO:B15-B19 viral hepatitis Viral hepatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label viral hepatitis +MONDO:0006015 MONDO:equivalentTo ICD10WHO:A39.1 Waterhouse-Friderichsen syndrome Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label waterhouse-friderichsen syndrome +MONDO:0006019 MONDO:equivalentTo ICD10WHO:A66 yaws Yaws semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label yaws +MONDO:0006032 MONDO:equivalentTo ICD10WHO:N30 cystitis Cystitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cystitis +MONDO:0006038 MONDO:equivalentTo ICD10WHO:K52.3 indeterminate colitis Indeterminate colitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label indeterminate colitis +MONDO:0006248 MONDO:equivalentTo ICD10WHO:O01 hydatidiform mole Hydatidiform mole semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hydatidiform mole +MONDO:0006497 MONDO:equivalentTo ICD10WHO:G80 cerebral palsy Cerebral palsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebral palsy +MONDO:0006515 MONDO:equivalentTo ICD10WHO:K85 acute pancreatitis Acute pancreatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute pancreatitis +MONDO:0006524 MONDO:equivalentTo ICD10WHO:L90.4 acrodermatitis chronica atrophicans Acrodermatitis chronica atrophicans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acrodermatitis chronica atrophicans +MONDO:0006525 MONDO:equivalentTo ICD10WHO:L23 allergic contact dermatitis Allergic contact dermatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label allergic contact dermatitis +MONDO:0006526 MONDO:equivalentTo ICD10WHO:L50.0 allergic urticaria Allergic urticaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label allergic urticaria +MONDO:0006527 MONDO:equivalentTo ICD10WHO:L74.4 anhidrosis Anhidrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anhidrosis +MONDO:0006532 MONDO:equivalentTo ICD10WHO:H60.4 cholesteatoma of external ear Cholesteatoma of external ear semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholesteatoma of external ear +MONDO:0006533 MONDO:equivalentTo ICD10WHO:H71 cholesteatoma of middle ear Cholesteatoma of middle ear semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholesteatoma of middle ear +MONDO:0006534 MONDO:equivalentTo ICD10WHO:L50.5 cholinergic urticaria Cholinergic urticaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholinergic urticaria +MONDO:0006541 MONDO:equivalentTo ICD10WHO:Q81 epidermolysis bullosa Epidermolysis bullosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epidermolysis bullosa +MONDO:0006543 MONDO:equivalentTo ICD10WHO:Q81.2 epidermolysis bullosa dystrophica Epidermolysis bullosa dystrophica semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epidermolysis bullosa dystrophica +MONDO:0006545 MONDO:equivalentTo ICD10WHO:L51 erythema multiforme Erythema multiforme semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythema multiforme +MONDO:0006551 MONDO:equivalentTo ICD10WHO:L65.2 alopecia mucinosa Alopecia mucinosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alopecia mucinosa +MONDO:0006554 MONDO:equivalentTo ICD10WHO:L92.0 granuloma annulare Granuloma annulare semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label granuloma annulare +MONDO:0006559 MONDO:equivalentTo ICD10WHO:L73.2 hidradenitis suppurativa Hidradenitis suppurativa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hidradenitis suppurativa +MONDO:0006567 MONDO:equivalentTo ICD10WHO:P57.0 kernicterus due to isoimmunization Kernicterus due to isoimmunization semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kernicterus due to isoimmunization +MONDO:0006571 MONDO:equivalentTo ICD10WHO:L44.1 lichen nitidus Lichen nitidus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lichen nitidus +MONDO:0006572 MONDO:equivalentTo ICD10WHO:L43 lichen planus Lichen planus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lichen planus +MONDO:0006581 MONDO:equivalentTo ICD10WHO:L74.0 miliaria rubra Miliaria rubra semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label miliaria rubra +MONDO:0006592 MONDO:equivalentTo ICD10WHO:L41 parapsoriasis Parapsoriasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label parapsoriasis +MONDO:0006594 MONDO:equivalentTo ICD10WHO:L10 pemphigus Pemphigus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pemphigus +MONDO:0006601 MONDO:equivalentTo ICD10WHO:L42 pityriasis rosea Pityriasis rosea semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pityriasis rosea +MONDO:0006604 MONDO:equivalentTo ICD10WHO:L71 rosacea Rosacea semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rosacea +MONDO:0006618 MONDO:equivalentTo ICD10WHO:L50.4 vibratory urticaria Vibratory urticaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vibratory urticaria +MONDO:0006643 MONDO:equivalentTo ICD10WHO:I42.6 alcoholic cardiomyopathy Alcoholic cardiomyopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alcoholic cardiomyopathy +MONDO:0006645 MONDO:equivalentTo ICD10WHO:G62.1 alcoholic polyneuropathy Alcoholic polyneuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alcoholic polyneuropathy +MONDO:0006664 MONDO:equivalentTo ICD10WHO:Q21.1 atrial septal defect Atrial septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrial septal defect +MONDO:0006665 MONDO:equivalentTo ICD10WHO:K29.4 chronic atrophic gastritis Chronic atrophic gastritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic atrophic gastritis +MONDO:0006676 MONDO:equivalentTo ICD10WHO:E51.1 beriberi Beriberi semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label beriberi +MONDO:0006688 MONDO:equivalentTo ICD10WHO:J66.0 byssinosis Byssinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label byssinosis +MONDO:0006692 MONDO:equivalentTo ICD10WHO:G37.2 central pontine myelinolysis Central pontine myelinolysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central pontine myelinolysis +MONDO:0006694 MONDO:equivalentTo ICD10WHO:I67.2 cerebral atherosclerosis Cerebral atherosclerosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebral atherosclerosis +MONDO:0006713 MONDO:equivalentTo ICD10WHO:H16.4 corneal neovascularization Corneal neovascularization semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corneal neovascularization +MONDO:0006771 MONDO:equivalentTo ICD10WHO:K14.0 glossitis Glossitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glossitis +MONDO:0006790 MONDO:equivalentTo ICD10WHO:K03.4 hypercementosis Hypercementosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypercementosis +MONDO:0006795 MONDO:equivalentTo ICD10WHO:D73.1 hypersplenism Hypersplenism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypersplenism +MONDO:0006796 MONDO:equivalentTo ICD10WHO:I67.4 hypertensive encephalopathy Hypertensive encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertensive encephalopathy +MONDO:0006798 MONDO:equivalentTo ICD10WHO:E67.0 hypervitaminosis A Hypervitaminosis A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypervitaminosis a +MONDO:0006826 MONDO:equivalentTo ICD10WHO:E40 kwashiorkor Kwashiorkor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kwashiorkor +MONDO:0006830 MONDO:equivalentTo ICD10WHO:N48.0 leukoplakia of penis Leukoplakia of penis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukoplakia of penis +MONDO:0006844 MONDO:equivalentTo ICD10WHO:E61.2 magnesium deficiency Magnesium deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label magnesium deficiency +MONDO:0006861 MONDO:equivalentTo ICD10WHO:C92.3 myeloid sarcoma Myeloid sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myeloid sarcoma +MONDO:0006913 MONDO:equivalentTo ICD10WHO:G00.1 pneumococcal meningitis Pneumococcal meningitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pneumococcal meningitis +MONDO:0006916 MONDO:equivalentTo ICD10WHO:K91.5 postcholecystectomy syndrome Postcholecystectomy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postcholecystectomy syndrome +MONDO:0006936 MONDO:equivalentTo ICD10WHO:I37.0 pulmonary valve stenosis Pulmonary valve stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary valve stenosis +MONDO:0006937 MONDO:equivalentTo ICD10WHO:K04.0 pulpitis Pulpitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulpitis +MONDO:0006946 MONDO:equivalentTo ICD10WHO:N25.0 renal osteodystrophy Renal osteodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal osteodystrophy +MONDO:0006947 MONDO:equivalentTo ICD10WHO:I15.0 renovascular hypertension Renovascular hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renovascular hypertension +MONDO:0006952 MONDO:equivalentTo ICD10WHO:H35.1 retinopathy of prematurity Retinopathy of prematurity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinopathy of prematurity +MONDO:0006970 MONDO:equivalentTo ICD10WHO:K11.5 sialolithiasis Sialolithiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sialolithiasis +MONDO:0006977 MONDO:equivalentTo ICD10WHO:N43.4 spermatocele Spermatocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatocele +MONDO:0006982 MONDO:equivalentTo ICD10WHO:E06.1 subacute thyroiditis Subacute thyroiditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subacute thyroiditis +MONDO:0006994 MONDO:equivalentTo ICD10WHO:G57.5 tarsal tunnel syndrome Tarsal tunnel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tarsal tunnel syndrome +MONDO:0007015 MONDO:equivalentTo ICD10WHO:A87 viral meningitis Viral meningitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label viral meningitis +MONDO:0007016 MONDO:equivalentTo ICD10WHO:E50 vitamin A deficiency Vitamin A deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vitamin a deficiency +MONDO:0007020 MONDO:equivalentTo ICD10WHO:E51.2 Wernicke encephalopathy Wernicke encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wernicke encephalopathy +MONDO:0007032 MONDO:equivalentTo ICD10WHO:Q79.4 prune belly syndrome Prune belly syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prune belly syndrome +MONDO:0007035 MONDO:equivalentTo ICD10WHO:L83 acanthosis nigricans Acanthosis nigricans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acanthosis nigricans +MONDO:0007037 MONDO:equivalentTo ICD10WHO:Q77.4 Achondroplasia Achondroplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label achondroplasia +MONDO:0007074 MONDO:equivalentTo ICD10WHO:L94.6 ainhum Ainhum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ainhum +MONDO:0007125 MONDO:equivalentTo ICD10WHO:Q38.1 ankyloglossia Ankyloglossia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ankyloglossia +MONDO:0007243 MONDO:equivalentTo ICD10WHO:C83.7 Burkitt lymphoma Burkitt lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label burkitt lymphoma +MONDO:0007275 MONDO:equivalentTo ICD10WHO:G56.0 carpal tunnel syndrome Carpal tunnel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carpal tunnel syndrome +MONDO:0007338 MONDO:equivalentTo ICD10WHO:Q35.3 cleft soft palate Cleft soft palate semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft soft palate +MONDO:0007416 MONDO:equivalentTo ICD10WHO:N15.0 Balkan nephropathy Balkan nephropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label balkan nephropathy +MONDO:0007529 MONDO:equivalentTo ICD10WHO:L87.2 elastosis perforans serpiginosa Elastosis perforans serpiginosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label elastosis perforans serpiginosa +MONDO:0007603 MONDO:equivalentTo ICD10WHO:M05.0 Felty syndrome Felty syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label felty syndrome +MONDO:0007713 MONDO:equivalentTo ICD10WHO:G51.3 clonic hemifacial spasm Clonic hemifacial spasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label clonic hemifacial spasm +MONDO:0007739 MONDO:equivalentTo ICD10WHO:G10 Huntington disease Huntington disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label huntington disease +MONDO:0007741 MONDO:equivalentTo ICD10WHO:Q62.0 congenital hydronephrosis Congenital hydronephrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital hydronephrosis +MONDO:0007745 MONDO:equivalentTo ICD10WHO:E80.4 Gilbert syndrome Gilbert syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gilbert syndrome +MONDO:0007835 MONDO:equivalentTo ICD10WHO:K56.1 intussusception Intussusception semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intussusception +MONDO:0007865 MONDO:equivalentTo ICD10WHO:M72.1 knuckle pads Knuckle pads semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label knuckle pads +MONDO:0007878 MONDO:equivalentTo ICD10WHO:Q31.5 congenital laryngomalacia Congenital laryngomalacia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital laryngomalacia +MONDO:0007899 MONDO:equivalentTo ICD10WHO:L90.0 lichen sclerosus et atrophicus Lichen sclerosus et atrophicus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lichen sclerosus et atrophicus +MONDO:0007915 MONDO:equivalentTo ICD10WHO:M32 systemic lupus erythematosus Systemic lupus erythematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label systemic lupus erythematosus +MONDO:0007921 MONDO:equivalentTo ICD10WHO:L60.5 yellow nail syndrome Yellow nail syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label yellow nail syndrome +MONDO:0007947 MONDO:equivalentTo ICD10WHO:Q87.4 Marfan syndrome Marfan syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label marfan syndrome +MONDO:0007955 MONDO:equivalentTo ICD10WHO:Q43.0 Meckel diverticulum Meckel diverticulum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label meckel diverticulum +MONDO:0008015 MONDO:equivalentTo ICD10WHO:T75.3 motion sickness Motion sickness semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label motion sickness +MONDO:0008054 MONDO:equivalentTo ICD10WHO:M33.0 juvenile dermatomyositis Juvenile dermatomyositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile dermatomyositis +MONDO:0008114 MONDO:equivalentTo ICD10WHO:F42 obsessive-compulsive disorder Obsessive-compulsive disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label obsessive-compulsive disorder +MONDO:0008159 MONDO:equivalentTo ICD10WHO:M81.0 postmenopausal osteoporosis Postmenopausal osteoporosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postmenopausal osteoporosis +MONDO:0008183 MONDO:equivalentTo ICD10WHO:Q45.1 annular pancreas Annular pancreas semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label annular pancreas +MONDO:0008207 MONDO:equivalentTo ICD10WHO:M22.4 chondromalacia patellae Chondromalacia patellae semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chondromalacia patellae +MONDO:0008213 MONDO:equivalentTo ICD10WHO:Q67.6 pectus excavatum Pectus excavatum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pectus excavatum +MONDO:0008219 MONDO:equivalentTo ICD10WHO:L10.0 pemphigus vulgaris Pemphigus vulgaris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pemphigus vulgaris +MONDO:0008274 MONDO:equivalentTo ICD10WHO:Q78.1 polyostotic fibrous dysplasia Polyostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyostotic fibrous dysplasia +MONDO:0008320 MONDO:equivalentTo ICD10WHO:M24.7 Protrusio acetabuli Protrusio acetabuli semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label protrusio acetabuli +MONDO:0008449 MONDO:equivalentTo ICD10WHO:Q05 spina bifida Spina bifida semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spina bifida +MONDO:0008475 MONDO:equivalentTo ICD10WHO:M43.1 spondylolisthesis Spondylolisthesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondylolisthesis +MONDO:0008542 MONDO:equivalentTo ICD10WHO:Q21.3 tetralogy of fallot Tetralogy of Fallot semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tetralogy of fallot +MONDO:0008585 MONDO:equivalentTo ICD10WHO:O14.2 HELLP syndrome HELLP syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hellp syndrome +MONDO:0008599 MONDO:equivalentTo ICD10WHO:G50.0 trigeminal neuralgia Trigeminal neuralgia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trigeminal neuralgia +MONDO:0008608 MONDO:equivalentTo ICD10WHO:Q90 Down syndrome Down syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label down syndrome +MONDO:0008661 MONDO:equivalentTo ICD10WHO:L80 vitiligo Vitiligo semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vitiligo +MONDO:0008797 MONDO:equivalentTo ICD10WHO:K00.0 anodontia Anodontia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anodontia +MONDO:0009044 MONDO:equivalentTo ICD10WHO:E80.5 Crigler-Najjar syndrome Crigler-Najjar syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label crigler-najjar syndrome +MONDO:0009061 MONDO:equivalentTo ICD10WHO:E84 cystic fibrosis Cystic fibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cystic fibrosis +MONDO:0009106 MONDO:equivalentTo ICD10WHO:Q06.2 diastematomyelia Diastematomyelia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diastematomyelia +MONDO:0009115 MONDO:equivalentTo ICD10WHO:E73.0 congenital lactase deficiency Congenital lactase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital lactase deficiency +MONDO:0009144 MONDO:equivalentTo ICD10WHO:Q22.5 Ebstein anomaly Ebstein anomaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ebstein anomaly +MONDO:0009169 MONDO:equivalentTo ICD10WHO:I42.4 endocardial fibroelastosis Endocardial fibroelastosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label endocardial fibroelastosis +MONDO:0009264 MONDO:equivalentTo ICD10WHO:Q79.3 gastroschisis Gastroschisis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gastroschisis +MONDO:0009326 MONDO:equivalentTo ICD10WHO:Q24.6 congenital heart block Congenital heart block semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital heart block +MONDO:0009451 MONDO:equivalentTo ICD10WHO:D81.4 Nezelof syndrome Nezelof syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nezelof syndrome +MONDO:0009688 MONDO:equivalentTo ICD10WHO:G70.0 myasthenia gravis Myasthenia gravis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myasthenia gravis +MONDO:0009691 MONDO:equivalentTo ICD10WHO:C84.0 mycosis fungoides Mycosis fungoides semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mycosis fungoides +MONDO:0009835 MONDO:equivalentTo ICD10WHO:A81.1 subacute sclerosing panencephalitis Subacute sclerosing panencephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subacute sclerosing panencephalitis +MONDO:0010029 MONDO:equivalentTo ICD10WHO:Q89.3 situs inversus Situs inversus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label situs inversus +MONDO:0010149 MONDO:equivalentTo ICD10WHO:D51.2 transcobalamin II deficiency Transcobalamin II deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transcobalamin ii deficiency +MONDO:0010298 MONDO:equivalentTo ICD10WHO:E79.1 Lesch-Nyhan syndrome Lesch-Nyhan syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lesch-nyhan syndrome +MONDO:0010518 MONDO:equivalentTo ICD10WHO:D82.0 Wiskott-Aldrich syndrome Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wiskott-aldrich syndrome +MONDO:0010528 MONDO:equivalentTo ICD10WHO:R43.0 anosmia Anosmia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anosmia +MONDO:0010631 MONDO:equivalentTo ICD10WHO:Q82.3 incontinentia pigmenti Incontinentia pigmenti semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label incontinentia pigmenti +MONDO:0010726 MONDO:equivalentTo ICD10WHO:F84.2 Rett syndrome Rett syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rett syndrome +MONDO:0010837 MONDO:equivalentTo ICD10WHO:E21.0 primary hyperparathyroidism Primary hyperparathyroidism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary hyperparathyroidism +MONDO:0010920 MONDO:equivalentTo ICD10WHO:Q17.2 microtia Microtia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microtia +MONDO:0010947 MONDO:equivalentTo ICD10WHO:I82.0 Budd-Chiari syndrome Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label budd-chiari syndrome +MONDO:0011284 MONDO:equivalentTo ICD10WHO:H52.2 astigmatism Astigmatism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label astigmatism +MONDO:0011438 MONDO:equivalentTo ICD10WHO:L70 acne Acne semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acne +MONDO:0011662 MONDO:equivalentTo ICD10WHO:F63.0 pathological gambling Pathological gambling semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pathological gambling +MONDO:0011827 MONDO:equivalentTo ICD10WHO:Q25.0 patent ductus arteriosus Patent ductus arteriosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label patent ductus arteriosus +MONDO:0011989 MONDO:equivalentTo ICD10WHO:B55 leishmaniasis Leishmaniasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leishmaniasis +MONDO:0012155 MONDO:equivalentTo ICD10WHO:Q30.0 choanal atresia Choanal atresia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label choanal atresia +MONDO:0012328 MONDO:equivalentTo ICD10WHO:L72.1 trichilemmal cyst Trichilemmal cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichilemmal cyst +MONDO:0012672 MONDO:equivalentTo ICD10WHO:K80 cholelithiasis Cholelithiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholelithiasis +MONDO:0012865 MONDO:equivalentTo ICD10WHO:L73.1 Pseudofolliculitis barbae Pseudofolliculitis barbae semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudofolliculitis barbae +MONDO:0013189 MONDO:equivalentTo ICD10WHO:F63.3 trichotillomania Trichotillomania semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichotillomania +MONDO:0015092 MONDO:equivalentTo ICD10WHO:Q35.1 cleft hard palate Cleft hard palate semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft hard palate +MONDO:0015104 MONDO:equivalentTo ICD10WHO:E80.1 porphyria cutanea tarda Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label porphyria cutanea tarda +MONDO:0015168 MONDO:equivalentTo ICD10WHO:Q74.3 arthrogryposis multiplex congenita Arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label arthrogryposis multiplex congenita +MONDO:0015200 MONDO:equivalentTo ICD10WHO:B81.0 anisakiasis Anisakiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anisakiasis +MONDO:0015260 MONDO:equivalentTo ICD10WHO:B70.0 diphyllobothriasis Diphyllobothriasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diphyllobothriasis +MONDO:0015358 MONDO:equivalentTo ICD10WHO:G60.0 hereditary motor and sensory neuropathy Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary motor and sensory neuropathy +MONDO:0015395 MONDO:equivalentTo ICD10WHO:Q31.1 congenital subglottic stenosis Congenital subglottic stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital subglottic stenosis +MONDO:0015469 MONDO:equivalentTo ICD10WHO:Q75.0 craniosynostosis Craniosynostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniosynostosis +MONDO:0015474 MONDO:equivalentTo ICD10WHO:A07.2 cryptosporidiosis Cryptosporidiosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cryptosporidiosis +MONDO:0015483 MONDO:equivalentTo ICD10WHO:Q75.4 mandibulofacial dysostosis Mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mandibulofacial dysostosis +MONDO:0015484 MONDO:equivalentTo ICD10WHO:B69 cysticercosis Cysticercosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cysticercosis +MONDO:0015486 MONDO:equivalentTo ICD10WHO:H18.6 keratoconus Keratoconus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratoconus +MONDO:0015496 MONDO:equivalentTo ICD10WHO:Q38.2 macroglossia Macroglossia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macroglossia +MONDO:0015517 MONDO:equivalentTo ICD10WHO:D83 common variable immunodeficiency Common variable immunodeficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label common variable immunodeficiency +MONDO:0015573 MONDO:equivalentTo ICD10WHO:L93.1 subacute cutaneous lupus erythematosus Subacute cutaneous lupus erythematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subacute cutaneous lupus erythematosus +MONDO:0015597 MONDO:equivalentTo ICD10WHO:L40.3 pustulosis palmaris et plantaris Pustulosis palmaris et plantaris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pustulosis palmaris et plantaris +MONDO:0015614 MONDO:equivalentTo ICD10WHO:L13.0 dermatitis herpetiformis Dermatitis herpetiformis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dermatitis herpetiformis +MONDO:0015622 MONDO:equivalentTo ICD10WHO:B87.1 wound myiasis Wound myiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wound myiasis +MONDO:0015661 MONDO:equivalentTo ICD10WHO:Q24.0 dextrocardia Dextrocardia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dextrocardia +MONDO:0015766 MONDO:equivalentTo ICD10WHO:A00 cholera Cholera semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholera +MONDO:0016008 MONDO:equivalentTo ICD10WHO:Q86.1 fetal hydantoin syndrome Fetal hydantoin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal hydantoin syndrome +MONDO:0016020 MONDO:equivalentTo ICD10WHO:Q01.0 frontal encephalocele Frontal encephalocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frontal encephalocele +MONDO:0016035 MONDO:equivalentTo ICD10WHO:E24.1 Nelson syndrome Nelson syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nelson syndrome +MONDO:0016052 MONDO:equivalentTo ICD10WHO:F84.1 atypical autism Atypical autism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atypical autism +MONDO:0016064 MONDO:equivalentTo ICD10WHO:Q35 cleft palate Cleft palate semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cleft palate +MONDO:0016075 MONDO:equivalentTo ICD10WHO:B74 filariasis Filariasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label filariasis +MONDO:0016122 MONDO:equivalentTo ICD10WHO:G72.3 periodic paralysis Periodic paralysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label periodic paralysis +MONDO:0016215 MONDO:equivalentTo ICD10WHO:G80.0 spastic quadriplegic cerebral palsy Spastic quadriplegic cerebral palsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spastic quadriplegic cerebral palsy +MONDO:0016264 MONDO:equivalentTo ICD10WHO:K75.4 autoimmune hepatitis Autoimmune hepatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune hepatitis +MONDO:0016295 MONDO:equivalentTo ICD10WHO:E75.4 neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuronal ceroid lipofuscinosis +MONDO:0016296 MONDO:equivalentTo ICD10WHO:Q04.2 holoprosencephaly Holoprosencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label holoprosencephaly +MONDO:0016318 MONDO:equivalentTo ICD10WHO:A81.2 progressive multifocal leukoencephalopathy Progressive multifocal leukoencephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progressive multifocal leukoencephalopathy +MONDO:0016349 MONDO:equivalentTo ICD10WHO:Q03 congenital hydrocephalus Congenital hydrocephalus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital hydrocephalus +MONDO:0016380 MONDO:equivalentTo ICD10WHO:L68.1 acquired hypertrichosis lanuginosa Acquired hypertrichosis lanuginosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired hypertrichosis lanuginosa +MONDO:0016383 MONDO:equivalentTo ICD10WHO:N25.1 nephrogenic diabetes insipidus Nephrogenic diabetes insipidus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nephrogenic diabetes insipidus +MONDO:0016391 MONDO:equivalentTo ICD10WHO:P70.2 neonatal diabetes mellitus Neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal diabetes mellitus +MONDO:0016472 MONDO:equivalentTo ICD10WHO:B72 dracunculiasis Dracunculiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dracunculiasis +MONDO:0016530 MONDO:equivalentTo ICD10WHO:Q31.3 laryngocele Laryngocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngocele +MONDO:0016566 MONDO:equivalentTo ICD10WHO:B74.3 loiasis Loiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label loiasis +MONDO:0016567 MONDO:equivalentTo ICD10WHO:G83.5 locked-in syndrome Locked-in syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label locked-in syndrome +MONDO:0016608 MONDO:equivalentTo ICD10WHO:Q04.5 megalencephaly Megalencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label megalencephaly +MONDO:0016761 MONDO:equivalentTo ICD10WHO:Q77.7 spondyloepiphyseal dysplasia Spondyloepiphyseal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spondyloepiphyseal dysplasia +MONDO:0016820 MONDO:equivalentTo ICD10WHO:I67.5 Moyamoya disease Moyamoya disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label moyamoya disease +MONDO:0016823 MONDO:equivalentTo ICD10WHO:B47 mycetoma Mycetoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mycetoma +MONDO:0017080 MONDO:equivalentTo ICD10WHO:Q01.2 occipital encephalocele Occipital encephalocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label occipital encephalocele +MONDO:0017137 MONDO:equivalentTo ICD10WHO:B73 onchocerciasis Onchocerciasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label onchocerciasis +MONDO:0017178 MONDO:equivalentTo ICD10WHO:M93.2 osteochondritis dissecans Osteochondritis dissecans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteochondritis dissecans +MONDO:0017198 MONDO:equivalentTo ICD10WHO:Q78.2 osteopetrosis Osteopetrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteopetrosis +MONDO:0017319 MONDO:equivalentTo ICD10WHO:D58.1 hereditary elliptocytosis Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary elliptocytosis +MONDO:0017361 MONDO:equivalentTo ICD10WHO:P35.0 congenital rubella syndrome Congenital rubella syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital rubella syndrome +MONDO:0017362 MONDO:equivalentTo ICD10WHO:G54.5 neuralgic amyotrophy Neuralgic amyotrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuralgic amyotrophy +MONDO:0017441 MONDO:equivalentTo ICD10WHO:Q71.1 congenital absence of upper arm and forearm with hand present Congenital absence of upper arm and forearm with hand present semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital absence of upper arm and forearm with hand present +MONDO:0017442 MONDO:equivalentTo ICD10WHO:Q72.1 congenital absence of thigh and lower leg with foot present Congenital absence of thigh and lower leg with foot present semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital absence of thigh and lower leg with foot present +MONDO:0017443 MONDO:equivalentTo ICD10WHO:Q71.2 congenital absence of both forearm and hand Congenital absence of both forearm and hand semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital absence of both forearm and hand +MONDO:0017444 MONDO:equivalentTo ICD10WHO:Q72.2 congenital absence of both lower leg and foot Congenital absence of both lower leg and foot semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital absence of both lower leg and foot +MONDO:0017450 MONDO:equivalentTo ICD10WHO:Q72.7 split foot Split foot semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label split foot +MONDO:0017610 MONDO:equivalentTo ICD10WHO:Q81.0 epidermolysis bullosa simplex Epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epidermolysis bullosa simplex +MONDO:0017776 MONDO:equivalentTo ICD10WHO:A43 nocardiosis Nocardiosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nocardiosis +MONDO:0017778 MONDO:equivalentTo ICD10WHO:Q80.2 lamellar ichthyosis Lamellar ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lamellar ichthyosis +MONDO:0017783 MONDO:equivalentTo ICD10WHO:Q45.2 congenital pancreatic cyst Congenital pancreatic cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pancreatic cyst +MONDO:0017865 MONDO:equivalentTo ICD10WHO:Q22.1 congenital pulmonary valve stenosis Congenital pulmonary valve stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital pulmonary valve stenosis +MONDO:0017880 MONDO:equivalentTo ICD10WHO:A92.4 Rift valley fever Rift Valley fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rift valley fever +MONDO:0017881 MONDO:equivalentTo ICD10WHO:A98.2 Kyasanur forest disease Kyasanur Forest disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kyasanur forest disease +MONDO:0018015 MONDO:equivalentTo ICD10WHO:M12.4 intermittent hydrarthrosis Intermittent hydrarthrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intermittent hydrarthrosis +MONDO:0018056 MONDO:equivalentTo ICD10WHO:L43.1 bullous lichen planus Bullous lichen planus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bullous lichen planus +MONDO:0018059 MONDO:equivalentTo ICD10WHO:A39.0 meningococcal meningitis Meningococcal meningitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label meningococcal meningitis +MONDO:0018076 MONDO:equivalentTo ICD10WHO:A15-A19 tuberculosis Tuberculosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tuberculosis +MONDO:0018089 MONDO:equivalentTo ICD10WHO:Q20.1 double outlet right ventricle Double outlet right ventricle semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label double outlet right ventricle +MONDO:0018090 MONDO:equivalentTo ICD10WHO:Q20.2 double outlet left ventricle Double outlet left ventricle semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label double outlet left ventricle +MONDO:0018166 MONDO:equivalentTo ICD10WHO:K13.5 oral submucous fibrosis Oral submucous fibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oral submucous fibrosis +MONDO:0018181 MONDO:equivalentTo ICD10WHO:L00 staphylococcal scalded skin syndrome Staphylococcal scalded skin syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label staphylococcal scalded skin syndrome +MONDO:0018309 MONDO:equivalentTo ICD10WHO:Q43.1 Hirschsprung disease Hirschsprung disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hirschsprung disease +MONDO:0018312 MONDO:equivalentTo ICD10WHO:B39 histoplasmosis Histoplasmosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label histoplasmosis +MONDO:0018326 MONDO:equivalentTo ICD10WHO:P94.0 transient neonatal myasthenia gravis Transient neonatal myasthenia gravis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient neonatal myasthenia gravis +MONDO:0018683 MONDO:equivalentTo ICD10WHO:L85.0 acquired ichthyosis Acquired ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired ichthyosis +MONDO:0018747 MONDO:equivalentTo ICD10WHO:L12.3 acquired epidermolysis bullosa Acquired epidermolysis bullosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired epidermolysis bullosa +MONDO:0018769 MONDO:equivalentTo ICD10WHO:A07.3 isosporiasis Isosporiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label isosporiasis +MONDO:0018815 MONDO:equivalentTo ICD10WHO:M85.5 aneurysmal bone cyst Aneurysmal bone cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aneurysmal bone cyst +MONDO:0018824 MONDO:equivalentTo ICD10WHO:L88 pyoderma gangrenosum Pyoderma gangrenosum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyoderma gangrenosum +MONDO:0018876 MONDO:equivalentTo ICD10WHO:C83.1 mantle cell lymphoma Mantle cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mantle cell lymphoma +MONDO:0018879 MONDO:equivalentTo ICD10WHO:L66.1 lichen planopilaris Lichen planopilaris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lichen planopilaris +MONDO:0018905 MONDO:equivalentTo ICD10WHO:C83.3 diffuse large B-cell lymphoma Diffuse large B-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse large b-cell lymphoma +MONDO:0018906 MONDO:equivalentTo ICD10WHO:C82 follicular lymphoma Follicular lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label follicular lymphoma +MONDO:0018912 MONDO:equivalentTo ICD10WHO:E24 Cushing syndrome Cushing syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cushing syndrome +MONDO:0018968 MONDO:equivalentTo ICD10WHO:Q00.2 iniencephaly Iniencephaly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label iniencephaly +MONDO:0018969 MONDO:equivalentTo ICD10WHO:Q00.1 craniorachischisis Craniorachischisis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label craniorachischisis +MONDO:0019019 MONDO:equivalentTo ICD10WHO:Q78.0 osteogenesis imperfecta Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteogenesis imperfecta +MONDO:0019064 MONDO:equivalentTo ICD10WHO:G11.4 hereditary spastic paraplegia Hereditary spastic paraplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary spastic paraplegia +MONDO:0019065 MONDO:equivalentTo ICD10WHO:E85 amyloidosis Amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amyloidosis +MONDO:0019082 MONDO:equivalentTo ICD10WHO:L12.0 bullous pemphigoid Bullous pemphigoid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bullous pemphigoid +MONDO:0019084 MONDO:equivalentTo ICD10WHO:K62.7 radiation proctitis Radiation proctitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radiation proctitis +MONDO:0019095 MONDO:equivalentTo ICD10WHO:A20 plague Plague semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label plague +MONDO:0019121 MONDO:equivalentTo ICD10WHO:B48.5 pneumocystosis Pneumocystosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pneumocystosis +MONDO:0019124 MONDO:equivalentTo ICD10WHO:M31.7 microscopic polyangiitis Microscopic polyangiitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microscopic polyangiitis +MONDO:0019125 MONDO:equivalentTo ICD10WHO:M94.1 relapsing polychondritis Relapsing polychondritis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label relapsing polychondritis +MONDO:0019127 MONDO:equivalentTo ICD10WHO:M33.2 polymyositis Polymyositis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polymyositis +MONDO:0019136 MONDO:equivalentTo ICD10WHO:B46 Zygomycosis Zygomycosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label zygomycosis +MONDO:0019147 MONDO:equivalentTo ICD10WHO:B87 myiasis Myiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myiasis +MONDO:0019170 MONDO:equivalentTo ICD10WHO:M30.0 polyarteritis nodosa Polyarteritis nodosa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyarteritis nodosa +MONDO:0019173 MONDO:equivalentTo ICD10WHO:A82 rabies Rabies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rabies +MONDO:0019186 MONDO:equivalentTo ICD10WHO:A78 Q fever Q fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label q fever +MONDO:0019209 MONDO:equivalentTo ICD10WHO:A83.0 Japanese encephalitis Japanese encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label japanese encephalitis +MONDO:0019280 MONDO:equivalentTo ICD10WHO:L68 hypertrichosis Hypertrichosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertrichosis +MONDO:0019322 MONDO:equivalentTo ICD10WHO:L10.1 pemphigus vegetans Pemphigus vegetans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pemphigus vegetans +MONDO:0019323 MONDO:equivalentTo ICD10WHO:L10.4 pemphigus erythematosus Pemphigus erythematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pemphigus erythematosus +MONDO:0019324 MONDO:equivalentTo ICD10WHO:L10.2 pemphigus foliaceus Pemphigus foliaceus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pemphigus foliaceus +MONDO:0019338 MONDO:equivalentTo ICD10WHO:D86 sarcoidosis Sarcoidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sarcoidosis +MONDO:0019345 MONDO:equivalentTo ICD10WHO:A03 shigellosis Shigellosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label shigellosis +MONDO:0019350 MONDO:equivalentTo ICD10WHO:D58.0 hereditary spherocytosis Hereditary spherocytosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary spherocytosis +MONDO:0019355 MONDO:equivalentTo ICD10WHO:M06.1 adult-onset Still disease Adult-onset Still disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label adult-onset still disease +MONDO:0019372 MONDO:equivalentTo ICD10WHO:M85.4 solitary bone cyst Solitary bone cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label solitary bone cyst +MONDO:0019380 MONDO:equivalentTo ICD10WHO:A83.1 western equine encephalitis Western equine encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label western equine encephalitis +MONDO:0019444 MONDO:equivalentTo ICD10WHO:B75 trichinellosis Trichinellosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trichinellosis +MONDO:0019455 MONDO:equivalentTo ICD10WHO:C94.4 acute panmyelosis with myelofibrosis Acute panmyelosis with myelofibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute panmyelosis with myelofibrosis +MONDO:0019474 MONDO:equivalentTo ICD10WHO:C86.1 hepatosplenic T-cell lymphoma Hepatosplenic T-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatosplenic t-cell lymphoma +MONDO:0019475 MONDO:equivalentTo ICD10WHO:C86.3 subcutaneous panniculitis-like T-cell lymphoma Subcutaneous panniculitis-like T-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subcutaneous panniculitis-like t-cell lymphoma +MONDO:0019479 MONDO:equivalentTo ICD10WHO:C96.8 histiocytic sarcoma Histiocytic sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label histiocytic sarcoma +MONDO:0019499 MONDO:equivalentTo ICD10WHO:Q96 Turner syndrome Turner syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label turner syndrome +MONDO:0019514 MONDO:equivalentTo ICD10WHO:K76.5 hepatic veno-occlusive disease Hepatic veno-occlusive disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatic veno-occlusive disease +MONDO:0019526 MONDO:equivalentTo ICD10WHO:L95.1 erythema elevatum diutinum Erythema elevatum diutinum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythema elevatum diutinum +MONDO:0019558 MONDO:equivalentTo ICD10WHO:L93.0 discoid lupus erythematosus Discoid lupus erythematosus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label discoid lupus erythematosus +MONDO:0019600 MONDO:equivalentTo ICD10WHO:Q82.1 xeroderma pigmentosum Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label xeroderma pigmentosum +MONDO:0019632 MONDO:equivalentTo ICD10WHO:A69.2 Lyme disease Lyme disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lyme disease +MONDO:0019636 MONDO:equivalentTo ICD10WHO:Q60.0 renal agenesis, unilateral Renal agenesis, unilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal agenesis, unilateral +MONDO:0019638 MONDO:equivalentTo ICD10WHO:Q61.4 renal dysplasia Renal dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal dysplasia +MONDO:0019648 MONDO:equivalentTo ICD10WHO:Q77.0 achondrogenesis Achondrogenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label achondrogenesis +MONDO:0019701 MONDO:equivalentTo ICD10WHO:Q77.3 chondrodysplasia punctata Chondrodysplasia punctata semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chondrodysplasia punctata +MONDO:0019735 MONDO:equivalentTo ICD10WHO:M35.3 polymyalgia rheumatica Polymyalgia rheumatica semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polymyalgia rheumatica +MONDO:0019737 MONDO:equivalentTo ICD10WHO:M31.1 thrombotic microangiopathy Thrombotic microangiopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thrombotic microangiopathy +MONDO:0019759 MONDO:equivalentTo ICD10WHO:Q64.0 epispadias Epispadias semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epispadias +MONDO:0019813 MONDO:equivalentTo ICD10WHO:Q22.4 congenital tricuspid stenosis Congenital tricuspid stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital tricuspid stenosis +MONDO:0019945 MONDO:equivalentTo ICD10WHO:L56.3 solar urticaria Solar urticaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label solar urticaria +MONDO:0019979 MONDO:equivalentTo ICD10WHO:Q60.3 renal hypoplasia, unilateral Renal hypoplasia, unilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal hypoplasia, unilateral +MONDO:0019980 MONDO:equivalentTo ICD10WHO:Q60.4 renal hypoplasia, bilateral Renal hypoplasia, bilateral semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal hypoplasia, bilateral +MONDO:0019992 MONDO:equivalentTo ICD10WHO:E20.1 pseudohypoparathyroidism Pseudohypoparathyroidism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudohypoparathyroidism +MONDO:0019993 MONDO:equivalentTo ICD10WHO:Q27.1 congenital renal artery stenosis Congenital renal artery stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital renal artery stenosis +MONDO:0020066 MONDO:equivalentTo ICD10WHO:Q79.6 Ehlers-Danlos syndrome Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ehlers-danlos syndrome +MONDO:0020121 MONDO:equivalentTo ICD10WHO:G71.0 muscular dystrophy Muscular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label muscular dystrophy +MONDO:0020159 MONDO:equivalentTo ICD10WHO:Q10.2 congenital entropion Congenital entropion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital entropion +MONDO:0020161 MONDO:equivalentTo ICD10WHO:Q10.1 congenital ectropion Congenital ectropion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital ectropion +MONDO:0020291 MONDO:equivalentTo ICD10WHO:Q22.6 hypoplastic right heart syndrome Hypoplastic right heart syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypoplastic right heart syndrome +MONDO:0020356 MONDO:equivalentTo ICD10WHO:Q13.0 coloboma of iris Coloboma of iris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coloboma of iris +MONDO:0020366 MONDO:equivalentTo ICD10WHO:Q15.0 congenital glaucoma Congenital glaucoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital glaucoma +MONDO:0020398 MONDO:equivalentTo ICD10WHO:Q23.2 congenital mitral stenosis Congenital mitral stenosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital mitral stenosis +MONDO:0020502 MONDO:equivalentTo ICD10WHO:A95 yellow fever Yellow fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label yellow fever +MONDO:0020548 MONDO:equivalentTo ICD10WHO:H13.3 ocular pemphigoid Ocular pemphigoid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ocular pemphigoid +MONDO:0020568 MONDO:equivalentTo ICD10WHO:B87.0 cutaneous myiasis Cutaneous myiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cutaneous myiasis +MONDO:0020599 MONDO:equivalentTo ICD10WHO:D68.4 acquired coagulation factor deficiency Acquired coagulation factor deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired coagulation factor deficiency +MONDO:0020600 MONDO:equivalentTo ICD10WHO:J02 acute pharyngitis Acute pharyngitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute pharyngitis +MONDO:0020601 MONDO:equivalentTo ICD10WHO:A83 mosquito-borne viral encephalitis Mosquito-borne viral encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosquito-borne viral encephalitis +MONDO:0020655 MONDO:equivalentTo ICD10WHO:M08.1 juvenile ankylosing spondylitis Juvenile ankylosing spondylitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile ankylosing spondylitis +MONDO:0020680 MONDO:equivalentTo ICD10WHO:J21 acute bronchiolitis Acute bronchiolitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute bronchiolitis +MONDO:0020686 MONDO:equivalentTo ICD10WHO:J03 acute tonsillitis Acute tonsillitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute tonsillitis +MONDO:0020782 MONDO:equivalentTo ICD10WHO:K05.1 chronic gingivitis Chronic gingivitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic gingivitis +MONDO:0020863 MONDO:equivalentTo ICD10WHO:A36.2 laryngeal diphtheria Laryngeal diphtheria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngeal diphtheria +MONDO:0020866 MONDO:equivalentTo ICD10WHO:A36.1 nasopharyngeal diphtheria Nasopharyngeal diphtheria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nasopharyngeal diphtheria +MONDO:0021002 MONDO:equivalentTo ICD10WHO:Q70 syndactyly Syndactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndactyly +MONDO:0021003 MONDO:equivalentTo ICD10WHO:Q69 polydactyly Polydactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polydactyly +MONDO:0021124 MONDO:equivalentTo ICD10WHO:N97 female infertility Female infertility semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label female infertility +MONDO:0021377 MONDO:equivalentTo ICD10WHO:L43.0 hypertrophic lichen planus Hypertrophic lichen planus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertrophic lichen planus +MONDO:0021394 MONDO:equivalentTo ICD10WHO:N84.2 polyp of vagina Polyp of vagina semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyp of vagina +MONDO:0021396 MONDO:equivalentTo ICD10WHO:N84.3 polyp of vulva Polyp of vulva semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyp of vulva +MONDO:0021400 MONDO:equivalentTo ICD10WHO:K63.5 polyp of colon Polyp of colon semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyp of colon +MONDO:0021527 MONDO:equivalentTo ICD10WHO:D32 benign neoplasm of meninges Benign neoplasm of meninges semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign neoplasm of meninges +MONDO:0021642 MONDO:equivalentTo ICD10WHO:I86.3 vulval varices Vulval varices semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vulval varices +MONDO:0021723 MONDO:equivalentTo ICD10WHO:N94.2 vaginismus Vaginismus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vaginismus +MONDO:0021750 MONDO:equivalentTo ICD10WHO:N13.6 pyonephrosis Pyonephrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyonephrosis +MONDO:0022096 MONDO:equivalentTo ICD10WHO:L98.0 pyogenic granuloma Pyogenic granuloma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyogenic granuloma +MONDO:0022103 MONDO:equivalentTo ICD10WHO:N41.1 chronic prostatitis Chronic prostatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic prostatitis +MONDO:0022171 MONDO:equivalentTo ICD10WHO:L75.1 chromhidrosis Chromhidrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chromhidrosis +MONDO:0023011 MONDO:equivalentTo ICD10WHO:P27.0 Wilson-Mikity syndrome Wilson-Mikity syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wilson-mikity syndrome +MONDO:0023297 MONDO:equivalentTo ICD10WHO:L40.4 guttate psoriasis Guttate psoriasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label guttate psoriasis +MONDO:0024228 MONDO:equivalentTo ICD10WHO:L74.2 miliaria profunda Miliaria profunda semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label miliaria profunda +MONDO:0024229 MONDO:equivalentTo ICD10WHO:L74.1 miliaria crystallina Miliaria crystallina semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label miliaria crystallina +MONDO:0024302 MONDO:equivalentTo ICD10WHO:B83.4 internal hirudiniasis Internal hirudiniasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label internal hirudiniasis +MONDO:0024303 MONDO:equivalentTo ICD10WHO:B88.3 external hirudiniasis External hirudiniasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label external hirudiniasis +MONDO:0024304 MONDO:equivalentTo ICD10WHO:Q80.0 ichthyosis vulgaris Ichthyosis vulgaris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ichthyosis vulgaris +MONDO:0024333 MONDO:equivalentTo ICD10WHO:M54.3 sciatica Sciatica semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sciatica +MONDO:0024349 MONDO:equivalentTo ICD10WHO:L30.5 pityriasis alba Pityriasis alba semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pityriasis alba +MONDO:0024647 MONDO:equivalentTo ICD10WHO:N20-N23 urolithiasis Urolithiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label urolithiasis +MONDO:0024650 MONDO:equivalentTo ICD10WHO:M81.4 drug-induced osteoporosis Drug-induced osteoporosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label drug-induced osteoporosis +MONDO:0024652 MONDO:equivalentTo ICD10WHO:Q50.4 embryonic cyst of fallopian tube Embryonic cyst of fallopian tube semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label embryonic cyst of fallopian tube +MONDO:0026045 MONDO:equivalentTo ICD10WHO:L28.1 prurigo nodularis Prurigo nodularis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prurigo nodularis +MONDO:0040925 MONDO:equivalentTo ICD10WHO:A66.8 latent yaws Latent yaws semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label latent yaws +MONDO:0041086 MONDO:equivalentTo ICD10WHO:F41.2 mixed anxiety and depressive disorder Mixed anxiety and depressive disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mixed anxiety and depressive disorder +MONDO:0041366 MONDO:equivalentTo ICD10WHO:J05.1 acute epiglottitis Acute epiglottitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute epiglottitis +MONDO:0042484 MONDO:equivalentTo ICD10WHO:B42.7 disseminated sporotrichosis Disseminated sporotrichosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disseminated sporotrichosis +MONDO:0043209 MONDO:equivalentTo ICD10WHO:E70.3 albinism Albinism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label albinism +MONDO:0043224 MONDO:equivalentTo ICD10WHO:F01.1 multi-infarct dementia Multi-infarct dementia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multi-infarct dementia +MONDO:0043233 MONDO:equivalentTo ICD10WHO:L26 exfoliative dermatitis Exfoliative dermatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label exfoliative dermatitis +MONDO:0043237 MONDO:equivalentTo ICD10WHO:K14.6 glossodynia Glossodynia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glossodynia +MONDO:0043267 MONDO:equivalentTo ICD10WHO:M05.2 rheumatoid vasculitis Rheumatoid vasculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rheumatoid vasculitis +MONDO:0043294 MONDO:equivalentTo ICD10WHO:L94.1 linear scleroderma Linear scleroderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label linear scleroderma +MONDO:0043310 MONDO:equivalentTo ICD10WHO:G45.3 amaurosis fugax Amaurosis fugax semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amaurosis fugax +MONDO:0043327 MONDO:equivalentTo ICD10WHO:G96.0 cerebrospinal fluid leak Cerebrospinal fluid leak semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cerebrospinal fluid leak +MONDO:0043468 MONDO:equivalentTo ICD10WHO:L73.0 acne keloid Acne keloid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acne keloid +MONDO:0043537 MONDO:equivalentTo ICD10WHO:G44.0 cluster headache syndrome Cluster headache syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cluster headache syndrome +MONDO:0043541 MONDO:equivalentTo ICD10WHO:B30 viral conjunctivitis Viral conjunctivitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label viral conjunctivitis +MONDO:0043762 MONDO:equivalentTo ICD10WHO:O00.1 tubal pregnancy Tubal pregnancy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tubal pregnancy +MONDO:0043765 MONDO:equivalentTo ICD10WHO:H91.1 presbycusis Presbycusis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label presbycusis +MONDO:0043771 MONDO:equivalentTo ICD10WHO:L58 radiodermatitis Radiodermatitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radiodermatitis +MONDO:0043777 MONDO:equivalentTo ICD10WHO:L71.1 rhinophyma Rhinophyma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rhinophyma +MONDO:0043783 MONDO:equivalentTo ICD10WHO:P83.0 sclerema neonatorum Sclerema neonatorum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sclerema neonatorum +MONDO:0043975 MONDO:equivalentTo ICD10WHO:G90.4 autonomic dysreflexia Autonomic dysreflexia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autonomic dysreflexia +MONDO:0043994 MONDO:equivalentTo ICD10WHO:K81.0 acute cholecystitis Acute cholecystitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acute cholecystitis +MONDO:0044014 MONDO:equivalentTo ICD10WHO:O90.5 postpartum thyroiditis Postpartum thyroiditis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label postpartum thyroiditis +MONDO:0044211 MONDO:equivalentTo ICD10WHO:L50.1 idiopathic urticaria Idiopathic urticaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic urticaria +MONDO:0044778 MONDO:equivalentTo ICD10WHO:C81.0 nodular lymphocyte predominant Hodgkin lymphoma Nodular lymphocyte predominant Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nodular lymphocyte predominant hodgkin lymphoma +MONDO:0044983 MONDO:equivalentTo ICD10WHO:D17 benign lipomatous neoplasm Benign lipomatous neoplasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign lipomatous neoplasm +MONDO:0060766 MONDO:equivalentTo ICD10WHO:K62.0 anal polyp Anal polyp semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anal polyp +MONDO:0100017 MONDO:equivalentTo ICD10WHO:L44.0 pityriasis rubra pilaris Pityriasis rubra pilaris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pityriasis rubra pilaris +MONDO:0100076 MONDO:equivalentTo ICD10WHO:M41.1 juvenile idiopathic scoliosis Juvenile idiopathic scoliosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label juvenile idiopathic scoliosis +MONDO:0100309 MONDO:equivalentTo ICD10WHO:G11 hereditary ataxia Hereditary ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hereditary ataxia +MONDO:0100345 MONDO:equivalentTo ICD10WHO:E73 lactose intolerance Lactose intolerance semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lactose intolerance +MONDO:0100347 MONDO:equivalentTo ICD10WHO:E34.0 carcinoid syndrome Carcinoid syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carcinoid syndrome +MONDO:0100471 MONDO:equivalentTo ICD10WHO:E55 vitamin D deficiency Vitamin D deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vitamin d deficiency +MONDO:0100491 MONDO:equivalentTo ICD10WHO:L40.1 generalized pustular psoriasis Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label generalized pustular psoriasis +MONDO:0400003 MONDO:equivalentTo ICD10WHO:M85.1 skeletal fluorosis Skeletal fluorosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label skeletal fluorosis +MONDO:0800175 MONDO:equivalentTo ICD10WHO:R57.0 cardiogenic shock Cardiogenic shock semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiogenic shock +MONDO:0800177 MONDO:equivalentTo ICD10WHO:T33-T35 frostbite Frostbite semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frostbite +MONDO:0800198 MONDO:equivalentTo ICD10WHO:L63.1 alopecia universalis Alopecia universalis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alopecia universalis +MONDO:0850046 MONDO:equivalentTo ICD10WHO:O88.1 amniotic fluid embolism Amniotic fluid embolism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amniotic fluid embolism +MONDO:0850231 MONDO:equivalentTo ICD10WHO:L52 erythema nodosum Erythema nodosum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythema nodosum +MONDO:0850301 MONDO:equivalentTo ICD10WHO:L12 pemphigoid Pemphigoid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pemphigoid +MONDO:0859565 MONDO:equivalentTo ICD10WHO:Q21.2 atrioventricular septal defect Atrioventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrioventricular septal defect diff --git a/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo.tsv b/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo.tsv index d79e11e0..6c1e28a7 100644 --- a/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo.tsv +++ b/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo.tsv @@ -898,6 +898,7 @@ MONDO:0800093 obsolete dysostosis with brachydactyly without extraskeletal manif MONDO:0800094 obsolete dysostosis with brachydactyly with extraskeletal manifestations Orphanet:498454 MONDO:equivalentTo Dysostosis with brachydactyly with extraskeletal manifestations semapv:UnspecifiedMatching MONDO:0800095 obsolete syndrome with synostosis or other joint formation defect Orphanet:93459 MONDO:equivalentTo Syndrome with synostosis or other joint formation defect semapv:UnspecifiedMatching MONDO:0957009 obsolete hereditary posterior fossa malformation Orphanet:269557 MONDO:equivalentTo Genetic posterior fossa malformation semapv:UnspecifiedMatching +MONDO:0957404 obsolete pyogenic autoinflammatory syndrome of childhood Orphanet:324942 MONDO:equivalentTo Pyogenic autoinflammatory syndrome of childhood semapv:UnspecifiedMatching MONDO:8000030 obsolete morphological anomaly Orphanet:377791 MONDO:equivalentTo Morphological anomaly semapv:UnspecifiedMatching MONDO:8000031 obsolete subtype of a disorder Orphanet:557494 MONDO:equivalentTo subtype of a disorder semapv:UnspecifiedMatching MONDO:8000033 obsolete group of disorders Orphanet:557492 MONDO:equivalentTo group of disorders semapv:UnspecifiedMatching diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_omim.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_omim.tsv index cdcec400..cb18d3f6 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_omim.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_omim.tsv @@ -1,5 +1,6 @@ subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment MONDO:0008297 variegate porphyria skos:closeMatch OMIM:620483 variegate porphyria, childhood-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym variegate porphyria, homozygous variant LEXMATCH +MONDO:0009697 Lafora disease skos:closeMatch OMIM:620681 myoclonic epilepsy of lafora 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive myoclonic, 2b LEXMATCH MONDO:0011953 familial acute necrotizing encephalopathy skos:closeMatch OMIM:620461 encephalitis, acute, infection-induced, susceptibility to, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute necrotizing, susceptibility to LEXMATCH MONDO:0013098 noise induced hearing loss skos:closeMatch OMIM:613035 hearing loss, noise-induced, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hearing loss, noise-induced, susceptibility to LEXMATCH MONDO:0013098 noise induced hearing loss skos:closeMatch OMIM:613035 hearing loss, noise-induced, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hearing loss, noise-induced, susceptibility to LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_omimps.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_omimps.tsv index f373c3a4..33f47e91 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_omimps.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_omimps.tsv @@ -22,4 +22,5 @@ MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch OMIMPS:151623 Li-Fraumeni syn MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch OMIMPS:151623 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID skos:relatedMatch-INVERSE mondo:0018875 LEXMATCH MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch OMIMPS:151623 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:3012 LEXMATCH MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch OMIMPS:151623 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE doid:3012 LEXMATCH +MONDO:0019037 progressive supranuclear palsy skos:closeMatch OMIMPS:601104 Supranuclear palsy, progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label supranuclear palsy, progressive LEXMATCH MONDO:0020722 nephrolithiasis susceptibility caused by SLC26A1 skos:closeMatch OMIMPS:167030 Nephrolithiasis, calcium oxalate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nephrolithiasis, calcium oxalate LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv index 2c2add35..ed95c843 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv @@ -1,118 +1,119 @@ -subject_id subject_label predicate_id object_id object_label mapping_justification comment -MONDO:0000911 obsolete dilated cardiomyopathy 1T skos:exactMatch OMIM:613740 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007061 obsolete acylase, cobalt-activated skos:exactMatch OMIM:102590 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007139 obsolete Antipyrine metabolism skos:exactMatch OMIM:107290 antipyrine metabolism semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007331 obsolete cleft chin skos:exactMatch OMIM:119000 cleft chin semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007347 obsolete Coxsackievirus B3 susceptibility skos:exactMatch OMIM:120050 coxsackievirus b3 susceptibility semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007348 obsolete colchicine resistance skos:exactMatch OMIM:120080 colchicine resistance semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007386 obsolete human coronavirus sensitivity skos:exactMatch OMIM:122460 human coronavirus sensitivity semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007506 obsoleted echo virus 11 sensitivity skos:exactMatch OMIM:129150 echo virus 11 sensitivity semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007602 obsolete favism, susceptibility to skos:exactMatch OMIM:134700 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007632 obsolete fragile site, Distamycin a type, rare, fra(16)(q22.1) skos:exactMatch OMIM:136580 fragile site, distamycin a type, rare, fra(16)(q22.1) semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007659 obsolete giant platelet syndrome with thrombocytopenia skos:exactMatch OMIM:137560 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007779 obsolete autosomal dominant Opitz G/BBB syndrome skos:exactMatch OMIM:145410 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007801 obsolete hypoplasia of teeth roots skos:exactMatch OMIM:146400 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0008074 obsolete nerve growth factor, alpha subunit skos:exactMatch OMIM:162020 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0008091 obsolete abnormal neutrophil chemotactic response skos:exactMatch OMIM:162820 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0008126 obsolete oncogene Yuasa skos:exactMatch OMIM:164891 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0008204 obsolete patella aplasia, coxa vara, and tarsal synostosis skos:exactMatch OMIM:168850 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0008415 obsolete Scholte syndrome skos:exactMatch OMIM:181515 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0008548 obsolete theophylline Biotransformation skos:exactMatch OMIM:187650 theophylline biotransformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0008625 obsolete urate-binding globulin, decrease 1N skos:exactMatch OMIM:191530 urate-binding globulin, decrease 1n semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0009117 obsolete disorganization, mouse, homolog of skos:exactMatch OMIM:223200 disorganization, mouse, homolog of semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0009535 obsolete lymphedema, congenital recessive skos:exactMatch OMIM:247440 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0009553 obsolete Plasmodium falciparum blood infection level skos:exactMatch OMIM:248310 plasmodium falciparum blood infection level semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0009654 obsolete mucopolysaccharidoses, unclassified types skos:exactMatch OMIM:252700 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010045 obsolete paraplegia-brachydactyly-cone-shaped epiphysis syndrome skos:exactMatch OMIM:270710 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010291 obsolete androgen insensitivity syndrome due to coactivator deficiency skos:exactMatch OMIM:300274 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010346 obsolete MRX52 skos:exactMatch OMIM:300504 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010357 obsolete MRX78 skos:exactMatch OMIM:300551 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010387 obsolete invasive pneumococcal disease, recurrent isolated, 2 skos:exactMatch OMIM:300640 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010394 obsolete leukoencephalopathy-metaphyseal chondrodysplasia syndrome skos:exactMatch OMIM:300660 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010470 obsolete Baratela-Scott syndrome skos:exactMatch OMIM:300881 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010527 obsolete microphthalmia-ankyloblepharon-intellectual disability syndrome skos:exactMatch OMIM:301590 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010601 obsolete gynecomastia, familial skos:exactMatch OMIM:306500 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010666 obsolete Miles-Carpenter syndrome skos:exactMatch OMIM:309605 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010804 obsolete BRCATA skos:exactMatch OMIM:600048 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010859 obsolete atrioventricular septal defect 3 skos:exactMatch OMIM:600309 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0011111 obsolete horns in sheep skos:exactMatch OMIM:601563 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0011543 obsolete BRCA3 skos:exactMatch OMIM:605365 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0011554 obsolete deafness, nonsyndromic, modifier 1 skos:exactMatch OMIM:605429 deafness, autosomal recessive 26, modifier of semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0011809 obsolete mammographic density skos:exactMatch OMIM:607308 mammographic density semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0011910 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C skos:exactMatch OMIM:607801 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0012140 obsolete pulmonary function skos:exactMatch OMIM:608852 pulmonary function semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0012144 Waardenburg syndrome type 2D skos:exactMatch OMIM:608890 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0012148 obsolete drug metabolism, poor, CYP2D6-related skos:exactMatch OMIM:608902 drug metabolism, poor, cyp2d6-related semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0012294 obsolete drug metabolism, poor, Cyp2C19-related skos:exactMatch OMIM:609535 drug metabolism, poor, cyp2c19-related semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0012461 obsolete bulimia nervosa, susceptibility to, 2 skos:exactMatch OMIM:610269 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0012501 obsolete mutagen sensitivity skos:exactMatch OMIM:610452 mutagen sensitivity semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0012560 obsolete invasive pneumococcal disease, recurrent isolated, 1 skos:exactMatch OMIM:610799 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0012663 obsolete Plasmodium falciparum fever episodes quantitative trait locus 1 skos:exactMatch OMIM:611384 plasmodium falciparum fever episodes quantitative trait locus 1 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0013001 obsolete synesthesia skos:exactMatch OMIM:612759 synesthesia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0013586 obsolete Chitotriosidase deficiency skos:exactMatch OMIM:614122 chitotriosidase deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0013596 obsolete nonsyndromic congenital nail disorder 10 skos:exactMatch OMIM:614157 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0013617 obsolete overgrowth-macrocephaly-facial dysmorphism syndrome skos:exactMatch OMIM:614192 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0013701 obsolete MRT32 skos:exactMatch OMIM:614339 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0013733 obsolete accelerated tumor formation, susceptibility to skos:exactMatch OMIM:614401 accelerated tumor formation, susceptibility to semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0014053 obsolete stomatin-like protein-2, hyperphosphorylation of skos:exactMatch OMIM:615121 stomatin-like protein-2, hyperphosphorylation of semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0014330 obsolete eculizumab, poor response to skos:exactMatch OMIM:615749 eculizumab, poor response to semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0014763 obsolete Bombay phenotype skos:exactMatch OMIM:616754 bombay phenotype semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0014826 obsolete nucleoside diphosphate-linked moiety X Motif 15 deficiency skos:exactMatch OMIM:616903 thiopurines, poor metabolism of, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0014849 obsolete autosomal recessive nonsyndromic deafness 105 skos:exactMatch OMIM:616958 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0014978 obsolete preimplantation embryonic lethality 2 skos:exactMatch OMIM:617234 oocyte/zygote/embryo maturation arrest 16 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017996 obsolete blepharophimosis - intellectual disability syndrome due to UBE3B deficiency skos:exactMatch OMIM:615057 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018138 obsolete ocular albinism with congenital sensorineural hearing loss skos:exactMatch OMIM:103470 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019348 obsolete Ehlers-Danlos syndrome with periventricular heterotopia skos:exactMatch OMIM:300537 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020609 obsolete blood group, colton system skos:exactMatch OMIM:110450 blood group, colton system semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020612 obsolete blood group, kidd system skos:exactMatch OMIM:111000 blood group, kidd system semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020613 obsolete blood group--lke skos:exactMatch OMIM:111130 blood group--lke semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020614 obsolete blood group--lutheran system skos:exactMatch OMIM:111200 blood group--lutheran system semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020615 obsolete blood group system, landsteiner-wiener skos:exactMatch OMIM:111250 blood group system, landsteiner-wiener semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020616 obsolete blood group, mn skos:exactMatch OMIM:111300 blood group, mn semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020617 obsolete blood group--ok skos:exactMatch OMIM:111380 blood group--ok semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020618 obsolete blood group--private systems skos:exactMatch OMIM:111500 blood group--private systems semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020619 obsolete blood group, langereis system skos:exactMatch OMIM:111600 blood group, langereis system semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020620 obsolete blood group, ss skos:exactMatch OMIM:111740 blood group, ss semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020621 obsolete blood group--scianna system skos:exactMatch OMIM:111750 blood group--scianna system semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020622 obsolete blood group--stoltzfus system skos:exactMatch OMIM:111800 blood group--stoltzfus system semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020625 obsolete blood group--wright antigen skos:exactMatch OMIM:112050 blood group--wright antigen semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020626 obsolete yt blood group antigen skos:exactMatch OMIM:112100 yt blood group antigen semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020668 obsolete spastic paraplegia 5B skos:exactMatch OMIM:600146 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0023873 obsolete Noonan-like/multiple giant cell lesion syndrome skos:exactMatch OMIM:163955 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0024293 obsolete polyposis, gastric, Dos Santos and de Magalhaes 1980 skos:exactMatch OMIM:175020 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0024996 obsolete Usher syndrome, type 2b skos:exactMatch OMIM:276905 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0027416 obsolete retinal cone dystrophy 2 skos:exactMatch OMIM:601251 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0033550 obsolete high density lipoprotein cholesterol level quantitative trait locus 7 skos:exactMatch OMIM:618979 high density lipoprotein cholesterol level quantitative trait locus 7 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0033552 obsolete blood group, lewis system skos:exactMatch OMIM:618983 blood group, lewis system semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044217 obsolete asparagus, specific smell hypersensitivity skos:exactMatch OMIM:108390 asparagus, specific smell hypersensitivity semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044219 obsolete blood group, duffy system skos:exactMatch OMIM:110700 blood group, duffy system semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044220 obsolete blood group, 1 system skos:exactMatch OMIM:110800 blood group, 1 system semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044221 obsolete blood group--lutheran inhibitor skos:exactMatch OMIM:111150 blood group--lutheran inhibitor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044222 obsolete blood group, p1pk system skos:exactMatch OMIM:111400 blood group, p1pk system semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044223 obsolete radin blood group antigen skos:exactMatch OMIM:111620 radin blood group antigen semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044224 obsolete apocrine gland secretion, variation 1n skos:exactMatch OMIM:117800 apocrine gland secretion, variation 1n semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044228 obsolete eegbqtl skos:exactMatch OMIM:130190 electroencephalographic pattern, beta frequency, quantitative trait locus semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044234 obsolete hrm2 skos:exactMatch OMIM:139450 hair morphology 2 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044235 obsolete hsr skos:exactMatch OMIM:139900 hand skill, relative semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044236 obsolete hepatitis b vaccine, response to skos:exactMatch OMIM:142395 hepatitis B vaccine, response to semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044240 obsolete musical perfect pitch skos:exactMatch OMIM:159300 musical perfect pitch semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044246 obsolete nystagmus, voluntary skos:exactMatch OMIM:164170 nystagmus, voluntary semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044248 obsolete thiourea tasting skos:exactMatch OMIM:171200 thiourea tasting semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044249 obsolete alkaline phosphatase, plasma level of, quantitative trait locus 1 skos:exactMatch OMIM:171720 alkaline phosphatase, plasma level of, quantitative trait locus 1 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044252 obsolete skin/hair/eye pigmentation, variation in, 6 skos:exactMatch OMIM:210750 skin/hair/eye pigmentation, variation in, 6 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044255 obsolete skin/hair/eye pigmentation, variation in, 1 skos:exactMatch OMIM:227220 skin/hair/eye pigmentation, variation in, 1 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044256 obsolete skin/hair/eye pigmentation, variation in, 5 skos:exactMatch OMIM:227240 skin/hair/eye pigmentation, variation in, 5 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044257 obsolete lutheran null skos:exactMatch OMIM:247420 lutheran null semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044261 obsolete menoq1 skos:exactMatch OMIM:300488 menopause, natural, age at, quantitative trait locus 1 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044270 obsolete bilirubin, serum level of, quantitative trait locus 1 skos:exactMatch OMIM:601816 bilirubin, serum level of, quantitative trait locus 1 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044273 obsolete hypertension, diastolic, resistance to skos:exactMatch OMIM:608622 hypertension, diastolic, resistance to semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044274 obsolete hemoglobin, high altitude adaptation skos:exactMatch OMIM:609070 hemoglobin, high altitude adaptation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044275 obsolete carotid intimal medial thickness 1 skos:exactMatch OMIM:609338 carotid intimal medial thickness 1 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044276 obsolete skin/hair/eye pigmentation, variation in, 11 skos:exactMatch OMIM:612271 skin/hair/eye pigmentation, variation in, 11 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044277 obsolete uric acid concentration, serum, quantitative trait locus 4 skos:exactMatch OMIM:612671 uric acid concentration, serum, quantitative trait locus 4 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044280 obsolete glycerol quantitative trait locus skos:exactMatch OMIM:614411 glycerol quantitative trait locus semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044281 obsolete c3hex, ability to smell skos:exactMatch OMIM:615082 c3hex, ability to smell semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044282 obsolete blood group, vel system skos:exactMatch OMIM:615264 blood group, vel system semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044284 obsolete blood group, gerbich system skos:exactMatch OMIM:616089 blood group, gerbich system semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0060593 obsolete actn3 deficiency skos:exactMatch OMIM:617749 actn3 deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0200001 obsolete chromate resistance skos:exactMatch OMIM:118840 chromate resistance semapv:UnspecifiedMatching MONDO_MAPPINGS +subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment +MONDO:0000911 obsolete dilated cardiomyopathy 1T skos:exactMatch OMIM:613740 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0007061 obsolete acylase, cobalt-activated skos:exactMatch OMIM:102590 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0007139 obsolete Antipyrine metabolism skos:exactMatch OMIM:107290 antipyrine metabolism semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0007331 obsolete cleft chin skos:exactMatch OMIM:119000 cleft chin semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0007347 obsolete Coxsackievirus B3 susceptibility skos:exactMatch OMIM:120050 coxsackievirus b3 susceptibility semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0007348 obsolete colchicine resistance skos:exactMatch OMIM:120080 colchicine resistance semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0007386 obsolete human coronavirus sensitivity skos:exactMatch OMIM:122460 human coronavirus sensitivity semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0007506 obsoleted echo virus 11 sensitivity skos:exactMatch OMIM:129150 echo virus 11 sensitivity semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0007602 obsolete favism, susceptibility to skos:exactMatch OMIM:134700 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0007632 obsolete fragile site, Distamycin a type, rare, fra(16)(q22.1) skos:exactMatch OMIM:136580 fragile site, distamycin a type, rare, fra(16)(q22.1) semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0007659 obsolete giant platelet syndrome with thrombocytopenia skos:exactMatch OMIM:137560 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0007779 obsolete autosomal dominant Opitz G/BBB syndrome skos:exactMatch OMIM:145410 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0007801 obsolete hypoplasia of teeth roots skos:exactMatch OMIM:146400 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0008074 obsolete nerve growth factor, alpha subunit skos:exactMatch OMIM:162020 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0008091 obsolete abnormal neutrophil chemotactic response skos:exactMatch OMIM:162820 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0008126 obsolete oncogene Yuasa skos:exactMatch OMIM:164891 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0008204 obsolete patella aplasia, coxa vara, and tarsal synostosis skos:exactMatch OMIM:168850 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0008415 obsolete Scholte syndrome skos:exactMatch OMIM:181515 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0008548 obsolete theophylline Biotransformation skos:exactMatch OMIM:187650 theophylline biotransformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0008625 obsolete urate-binding globulin, decrease 1N skos:exactMatch OMIM:191530 urate-binding globulin, decrease 1n semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0009117 obsolete disorganization, mouse, homolog of skos:exactMatch OMIM:223200 disorganization, mouse, homolog of semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0009535 obsolete lymphedema, congenital recessive skos:exactMatch OMIM:247440 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0009553 obsolete Plasmodium falciparum blood infection level skos:exactMatch OMIM:248310 plasmodium falciparum blood infection level semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0009654 obsolete mucopolysaccharidoses, unclassified types skos:exactMatch OMIM:252700 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010045 obsolete paraplegia-brachydactyly-cone-shaped epiphysis syndrome skos:exactMatch OMIM:270710 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010291 obsolete androgen insensitivity syndrome due to coactivator deficiency skos:exactMatch OMIM:300274 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010346 obsolete MRX52 skos:exactMatch OMIM:300504 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010357 obsolete MRX78 skos:exactMatch OMIM:300551 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010387 obsolete invasive pneumococcal disease, recurrent isolated, 2 skos:exactMatch OMIM:300640 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010394 obsolete leukoencephalopathy-metaphyseal chondrodysplasia syndrome skos:exactMatch OMIM:300660 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010470 obsolete Baratela-Scott syndrome skos:exactMatch OMIM:300881 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010527 obsolete microphthalmia-ankyloblepharon-intellectual disability syndrome skos:exactMatch OMIM:301590 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010601 obsolete gynecomastia, familial skos:exactMatch OMIM:306500 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010666 obsolete Miles-Carpenter syndrome skos:exactMatch OMIM:309605 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010804 obsolete BRCATA skos:exactMatch OMIM:600048 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010859 obsolete atrioventricular septal defect 3 skos:exactMatch OMIM:600309 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0011111 obsolete horns in sheep skos:exactMatch OMIM:601563 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0011543 obsolete BRCA3 skos:exactMatch OMIM:605365 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0011554 obsolete deafness, nonsyndromic, modifier 1 skos:exactMatch OMIM:605429 deafness, autosomal recessive 26, modifier of semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0011809 obsolete mammographic density skos:exactMatch OMIM:607308 mammographic density semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0011910 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C skos:exactMatch OMIM:607801 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012140 obsolete pulmonary function skos:exactMatch OMIM:608852 pulmonary function semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012144 Waardenburg syndrome type 2D skos:exactMatch OMIM:608890 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012148 obsolete drug metabolism, poor, CYP2D6-related skos:exactMatch OMIM:608902 drug metabolism, poor, cyp2d6-related semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012294 obsolete drug metabolism, poor, Cyp2C19-related skos:exactMatch OMIM:609535 drug metabolism, poor, cyp2c19-related semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012461 obsolete bulimia nervosa, susceptibility to, 2 skos:exactMatch OMIM:610269 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012501 obsolete mutagen sensitivity skos:exactMatch OMIM:610452 mutagen sensitivity semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012560 obsolete invasive pneumococcal disease, recurrent isolated, 1 skos:exactMatch OMIM:610799 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012663 obsolete Plasmodium falciparum fever episodes quantitative trait locus 1 skos:exactMatch OMIM:611384 plasmodium falciparum fever episodes quantitative trait locus 1 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013001 obsolete synesthesia skos:exactMatch OMIM:612759 synesthesia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013586 obsolete Chitotriosidase deficiency skos:exactMatch OMIM:614122 chitotriosidase deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013596 obsolete nonsyndromic congenital nail disorder 10 skos:exactMatch OMIM:614157 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013617 obsolete overgrowth-macrocephaly-facial dysmorphism syndrome skos:exactMatch OMIM:614192 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013701 obsolete MRT32 skos:exactMatch OMIM:614339 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013733 obsolete accelerated tumor formation, susceptibility to skos:exactMatch OMIM:614401 accelerated tumor formation, susceptibility to semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014053 obsolete stomatin-like protein-2, hyperphosphorylation of skos:exactMatch OMIM:615121 stomatin-like protein-2, hyperphosphorylation of semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014330 obsolete eculizumab, poor response to skos:exactMatch OMIM:615749 eculizumab, poor response to semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014763 obsolete Bombay phenotype skos:exactMatch OMIM:616754 bombay phenotype semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014826 obsolete nucleoside diphosphate-linked moiety X Motif 15 deficiency skos:exactMatch OMIM:616903 thiopurines, poor metabolism of, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014849 obsolete autosomal recessive nonsyndromic deafness 105 skos:exactMatch OMIM:616958 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014978 obsolete preimplantation embryonic lethality 2 skos:exactMatch OMIM:617234 oocyte/zygote/embryo maturation arrest 16 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017996 obsolete blepharophimosis - intellectual disability syndrome due to UBE3B deficiency skos:exactMatch OMIM:615057 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018138 obsolete ocular albinism with congenital sensorineural hearing loss skos:exactMatch OMIM:103470 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019348 obsolete Ehlers-Danlos syndrome with periventricular heterotopia skos:exactMatch OMIM:300537 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020609 obsolete blood group, colton system skos:exactMatch OMIM:110450 blood group, colton system semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020612 obsolete blood group, kidd system skos:exactMatch OMIM:111000 blood group, kidd system semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020613 obsolete blood group--lke skos:exactMatch OMIM:111130 blood group--lke semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020614 obsolete blood group--lutheran system skos:exactMatch OMIM:111200 blood group--lutheran system semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020615 obsolete blood group system, landsteiner-wiener skos:exactMatch OMIM:111250 blood group system, landsteiner-wiener semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020616 obsolete blood group, mn skos:exactMatch OMIM:111300 blood group, mn semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020617 obsolete blood group--ok skos:exactMatch OMIM:111380 blood group--ok semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020618 obsolete blood group--private systems skos:exactMatch OMIM:111500 blood group--private systems semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020619 obsolete blood group, langereis system skos:exactMatch OMIM:111600 blood group, langereis system semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020620 obsolete blood group, ss skos:exactMatch OMIM:111740 blood group, ss semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020621 obsolete blood group--scianna system skos:exactMatch OMIM:111750 blood group--scianna system semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020622 obsolete blood group--stoltzfus system skos:exactMatch OMIM:111800 blood group--stoltzfus system semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020625 obsolete blood group--wright antigen skos:exactMatch OMIM:112050 blood group--wright antigen semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020626 obsolete yt blood group antigen skos:exactMatch OMIM:112100 yt blood group antigen semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020668 obsolete spastic paraplegia 5B skos:exactMatch OMIM:600146 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0023873 obsolete Noonan-like/multiple giant cell lesion syndrome skos:exactMatch OMIM:163955 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0024293 obsolete polyposis, gastric, Dos Santos and de Magalhaes 1980 skos:exactMatch OMIM:175020 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0024996 obsolete Usher syndrome, type 2b skos:exactMatch OMIM:276905 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0027416 obsolete retinal cone dystrophy 2 skos:exactMatch OMIM:601251 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0033550 obsolete high density lipoprotein cholesterol level quantitative trait locus 7 skos:exactMatch OMIM:618979 high density lipoprotein cholesterol level quantitative trait locus 7 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0033552 obsolete blood group, lewis system skos:exactMatch OMIM:618983 blood group, lewis system semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044217 obsolete asparagus, specific smell hypersensitivity skos:exactMatch OMIM:108390 asparagus, specific smell hypersensitivity semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044219 obsolete blood group, duffy system skos:exactMatch OMIM:110700 blood group, duffy system semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044220 obsolete blood group, 1 system skos:exactMatch OMIM:110800 blood group, 1 system semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044221 obsolete blood group--lutheran inhibitor skos:exactMatch OMIM:111150 blood group--lutheran inhibitor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044222 obsolete blood group, p1pk system skos:exactMatch OMIM:111400 blood group, p1pk system semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044223 obsolete radin blood group antigen skos:exactMatch OMIM:111620 radin blood group antigen semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044224 obsolete apocrine gland secretion, variation 1n skos:exactMatch OMIM:117800 apocrine gland secretion, variation 1n semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044228 obsolete eegbqtl skos:exactMatch OMIM:130190 electroencephalographic pattern, beta frequency, quantitative trait locus semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044234 obsolete hrm2 skos:exactMatch OMIM:139450 hair morphology 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044235 obsolete hsr skos:exactMatch OMIM:139900 hand skill, relative semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044236 obsolete hepatitis b vaccine, response to skos:exactMatch OMIM:142395 hepatitis B vaccine, response to semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044240 obsolete musical perfect pitch skos:exactMatch OMIM:159300 musical perfect pitch semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044246 obsolete nystagmus, voluntary skos:exactMatch OMIM:164170 nystagmus, voluntary semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044248 obsolete thiourea tasting skos:exactMatch OMIM:171200 thiourea tasting semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044249 obsolete alkaline phosphatase, plasma level of, quantitative trait locus 1 skos:exactMatch OMIM:171720 alkaline phosphatase, plasma level of, quantitative trait locus 1 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044252 obsolete skin/hair/eye pigmentation, variation in, 6 skos:exactMatch OMIM:210750 skin/hair/eye pigmentation, variation in, 6 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044255 obsolete skin/hair/eye pigmentation, variation in, 1 skos:exactMatch OMIM:227220 skin/hair/eye pigmentation, variation in, 1 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044256 obsolete skin/hair/eye pigmentation, variation in, 5 skos:exactMatch OMIM:227240 skin/hair/eye pigmentation, variation in, 5 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044257 obsolete lutheran null skos:exactMatch OMIM:247420 lutheran null semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044261 obsolete menoq1 skos:exactMatch OMIM:300488 menopause, natural, age at, quantitative trait locus 1 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044270 obsolete bilirubin, serum level of, quantitative trait locus 1 skos:exactMatch OMIM:601816 bilirubin, serum level of, quantitative trait locus 1 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044273 obsolete hypertension, diastolic, resistance to skos:exactMatch OMIM:608622 hypertension, diastolic, resistance to semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044274 obsolete hemoglobin, high altitude adaptation skos:exactMatch OMIM:609070 hemoglobin, high altitude adaptation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044275 obsolete carotid intimal medial thickness 1 skos:exactMatch OMIM:609338 carotid intimal medial thickness 1 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044276 obsolete skin/hair/eye pigmentation, variation in, 11 skos:exactMatch OMIM:612271 skin/hair/eye pigmentation, variation in, 11 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044277 obsolete uric acid concentration, serum, quantitative trait locus 4 skos:exactMatch OMIM:612671 uric acid concentration, serum, quantitative trait locus 4 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044280 obsolete glycerol quantitative trait locus skos:exactMatch OMIM:614411 glycerol quantitative trait locus semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044281 obsolete c3hex, ability to smell skos:exactMatch OMIM:615082 c3hex, ability to smell semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044282 obsolete blood group, vel system skos:exactMatch OMIM:615264 blood group, vel system semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044284 obsolete blood group, gerbich system skos:exactMatch OMIM:616089 blood group, gerbich system semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0060593 obsolete actn3 deficiency skos:exactMatch OMIM:617749 actn3 deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0200001 obsolete chromate resistance skos:exactMatch OMIM:118840 chromate resistance semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0800306 epilepsy, progressive myoclonic, 2b skos:exactMatch OMIM:620681 myoclonic epilepsy of lafora 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym epilepsy, progressive myoclonic, 2b LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omimps.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omimps.tsv index 7cf0bb6c..b94be691 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omimps.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omimps.tsv @@ -9,7 +9,9 @@ MONDO:0007187 nevoid basal cell carcinoma syndrome skos:exactMatch OMIMPS:109400 MONDO:0007239 epidermolytic ichthyosis skos:exactMatch OMIMPS:113800 Epidermolytic hyperkeratosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label epidermolytic hyperkeratosis LEXMATCH MONDO:0007709 hematuria, benign familial skos:exactMatch OMIMPS:141200 Hematuria, benign familial semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hematuria, benign familial LEXMATCH MONDO:0008116 oculopharyngeal muscular dystrophy skos:exactMatch OMIMPS:164300 Oculopharyngeal muscular dystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculopharyngeal muscular dystrophy LEXMATCH +MONDO:0009697 Lafora disease skos:exactMatch OMIMPS:254780 Myoclonic epilepsy of Lafora semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myoclonic epilepsy of lafora LEXMATCH MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:exactMatch OMIMPS:609628 Chronic recurrent multifocal osteomyelitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label chronic recurrent multifocal osteomyelitis LEXMATCH +MONDO:0010997 supranuclear palsy, progressive, 1 skos:exactMatch OMIMPS:601104 Supranuclear palsy, progressive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label supranuclear palsy, progressive LEXMATCH MONDO:0011612 glycine encephalopathy skos:exactMatch OMIMPS:605899 Glycine encephalopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycine encephalopathy LEXMATCH MONDO:0012033 bradyopsia skos:exactMatch OMIMPS:608415 Prolonged electroretinal response suppression semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label prolonged electroretinal response suppression LEXMATCH MONDO:0012172 mitochondrial trifunctional protein deficiency skos:exactMatch OMIMPS:609015 Mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial trifunctional protein deficiency LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_orphanet.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_orphanet.tsv index 77acc3af..7abe1833 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_orphanet.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_orphanet.tsv @@ -924,6 +924,7 @@ MONDO:0800093 obsolete dysostosis with brachydactyly without extraskeletal manif MONDO:0800094 obsolete dysostosis with brachydactyly with extraskeletal manifestations skos:exactMatch Orphanet:498454 Dysostosis with brachydactyly with extraskeletal manifestations semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0800095 obsolete syndrome with synostosis or other joint formation defect skos:exactMatch Orphanet:93459 Syndrome with synostosis or other joint formation defect semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0957009 obsolete hereditary posterior fossa malformation skos:exactMatch Orphanet:269557 Genetic posterior fossa malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0957404 obsolete pyogenic autoinflammatory syndrome of childhood skos:exactMatch Orphanet:324942 Pyogenic autoinflammatory syndrome of childhood semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:8000030 obsolete morphological anomaly skos:exactMatch Orphanet:377791 Morphological anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:8000031 obsolete subtype of a disorder skos:exactMatch Orphanet:557494 subtype of a disorder semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:8000033 obsolete group of disorders skos:exactMatch Orphanet:557492 group of disorders semapv:UnspecifiedMatching MONDO_MAPPINGS diff --git a/src/ontology/lexmatch/unmapped_omim_lex.tsv b/src/ontology/lexmatch/unmapped_omim_lex.tsv index 80705e64..0ee9ca9d 100644 --- a/src/ontology/lexmatch/unmapped_omim_lex.tsv +++ b/src/ontology/lexmatch/unmapped_omim_lex.tsv @@ -2,5 +2,8 @@ subject_id subject_label object_id predicate_id object_label mapping_justificati ID A oboInOwl:hasDbXref >A oboInOwl:source MONDO:0007187 nevoid basal cell carcinoma syndrome OMIMPS:109400 MONDO:equivalentTo Basal cell nevus syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label basal cell nevus syndrome MONDO:0007239 epidermolytic ichthyosis OMIMPS:113800 MONDO:equivalentTo Epidermolytic hyperkeratosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label epidermolytic hyperkeratosis +MONDO:0009697 Lafora disease OMIMPS:254780 MONDO:equivalentTo Myoclonic epilepsy of Lafora semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myoclonic epilepsy of lafora +MONDO:0010997 supranuclear palsy, progressive, 1 OMIMPS:601104 MONDO:equivalentTo Supranuclear palsy, progressive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label supranuclear palsy, progressive MONDO:0012033 bradyopsia OMIMPS:608415 MONDO:equivalentTo Prolonged electroretinal response suppression semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label prolonged electroretinal response suppression MONDO:0015397 craniofacial microsomia 1 OMIMPS:164210 MONDO:equivalentTo Craniofacial Microsomia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label craniofacial microsomia +MONDO:0800306 epilepsy, progressive myoclonic, 2b OMIM:620681 MONDO:equivalentTo myoclonic epilepsy of lafora 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym epilepsy, progressive myoclonic, 2b diff --git a/src/ontology/metadata/doid-metrics.json b/src/ontology/metadata/doid-metrics.json index 36d92467..7f6b0277 100644 --- a/src/ontology/metadata/doid-metrics.json +++ b/src/ontology/metadata/doid-metrics.json @@ -4,10 +4,10 @@ "abox_axiom_count_incl": 0, "annotation_property_count": 25, "annotation_property_count_incl": 25, - "axiom_count": 113059, - "axiom_count_incl": 113059, - "class_count": 12928, - "class_count_incl": 12928, + "axiom_count": 113780, + "axiom_count_incl": 113780, + "class_count": 12996, + "class_count_incl": 12996, "dataproperty_count": 0, "dataproperty_count_incl": 0, "datatypes_count": 2, @@ -20,13 +20,13 @@ "expressivity_incl": "C", "individual_count": 0, "individual_count_incl": 0, - "logical_axiom_count": 15835, - "logical_axiom_count_incl": 15835, + "logical_axiom_count": 15964, + "logical_axiom_count_incl": 15964, "obj_property_count": 2, "obj_property_count_incl": 2, "ontology_anno_count": 11, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/doid.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2023-11-07/doid.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-01-31/doid.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, @@ -37,13 +37,13 @@ "rdfs": false, "rule_count": 0, "rule_count_incl": 0, - "signature_entity_count": 12957, - "signature_entity_count_incl": 12957, + "signature_entity_count": 13025, + "signature_entity_count_incl": 13025, "syntax": "RDF/XML Syntax", - "tbox_axiom_count": 15835, - "tbox_axiom_count_incl": 15835, - "tboxrbox_axiom_count": 15835, - "tboxrbox_axiom_count_incl": 15835, + "tbox_axiom_count": 15964, + "tbox_axiom_count_incl": 15964, + "tboxrbox_axiom_count": 15964, + "tboxrbox_axiom_count_incl": 15964, "axiom_types": [ "AnnotationAssertion", "DisjointClasses", @@ -65,22 +65,22 @@ "valid_imports": [], "valid_imports_incl": [], "axiom_type_count": { - "AnnotationAssertion": 84271, + "AnnotationAssertion": 84795, "DisjointClasses": 26, - "Declaration": 12953, - "SubClassOf": 15809 + "Declaration": 13021, + "SubClassOf": 15938 }, "axiom_type_count_incl": { - "AnnotationAssertion": 84271, + "AnnotationAssertion": 84795, "DisjointClasses": 26, - "Declaration": 12953, - "SubClassOf": 15809 + "Declaration": 13021, + "SubClassOf": 15938 }, "class_expression_count": { - "Class": 44758 + "Class": 45084 }, "class_expression_count_incl": { - "Class": 44758 + "Class": 45084 }, "curie_map": { "oboInOwl": "http://www.geneontology.org/formats/oboInOwl#", @@ -107,63 +107,63 @@ "dc": "http://purl.org/dc/terms/" }, "namespace_axiom_count": { - "oboInOwl": 59080, - "owl": 2478, - "DOID": 43218, - "HP": 115, - "skos": 5494, + "oboInOwl": 57307, + "owl": 2479, + "DOID": 43544, + "HP": 117, + "skos": 5665, "CL": 61, - "rdfs": 18379, + "rdfs": 18458, "BFO": 2, "FOODON": 24, - "NCBITaxon": 320, + "NCBITaxon": 319, "TRANS": 13, "SYMP": 306, "dc11": 2, - "rdf": 2085, - "IAO": 2117, + "rdf": 57, + "IAO": 2137, "CHEBI": 90, "UBERON": 393, "SO": 17, - "obo": 191, + "obo": 190, "GENO": 10, "dc": 1 }, "namespace_axiom_count_incl": { - "oboInOwl": 59080, - "owl": 2478, - "DOID": 43218, - "HP": 115, - "skos": 5494, + "oboInOwl": 57307, + "owl": 2479, + "DOID": 43544, + "HP": 117, + "skos": 5665, "CL": 61, - "rdfs": 18379, + "rdfs": 18458, "BFO": 2, "FOODON": 24, - "NCBITaxon": 320, + "NCBITaxon": 319, "TRANS": 13, "SYMP": 306, "dc11": 2, - "rdf": 2085, - "IAO": 2117, + "rdf": 57, + "IAO": 2137, "CHEBI": 90, "UBERON": 393, "SO": 17, - "obo": 191, + "obo": 190, "GENO": 10, "dc": 1 }, "namespace_entity_count": { "oboInOwl": 11, "owl": 2, - "DOID": 11388, - "HP": 115, + "DOID": 11456, + "HP": 117, "xsd": 1, "CL": 61, "skos": 5, "BFO": 2, "rdfs": 2, "FOODON": 24, - "NCBITaxon": 320, + "NCBITaxon": 319, "TRANS": 13, "SYMP": 306, "dc11": 2, @@ -172,22 +172,22 @@ "IAO": 2, "UBERON": 393, "SO": 17, - "obo": 191, + "obo": 190, "GENO": 10, "dc": 1 }, "namespace_entity_count_incl": { "oboInOwl": 11, "owl": 2, - "DOID": 11388, - "HP": 115, + "DOID": 11456, + "HP": 117, "xsd": 1, "CL": 61, "skos": 5, "BFO": 2, "rdfs": 2, "FOODON": 24, - "NCBITaxon": 320, + "NCBITaxon": 319, "TRANS": 13, "SYMP": 306, "dc11": 2, @@ -196,7 +196,7 @@ "IAO": 2, "UBERON": 393, "SO": 17, - "obo": 191, + "obo": 190, "GENO": 10, "dc": 1 }, diff --git a/src/ontology/metadata/gard-metrics.json b/src/ontology/metadata/gard-metrics.json index 7ef1c9ca..93eaff94 100644 --- a/src/ontology/metadata/gard-metrics.json +++ b/src/ontology/metadata/gard-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 1, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/gard.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2023-11-08/gard.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-01-31/gard.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/icd10cm-metrics.json b/src/ontology/metadata/icd10cm-metrics.json index 55adb375..bef388a1 100644 --- a/src/ontology/metadata/icd10cm-metrics.json +++ b/src/ontology/metadata/icd10cm-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 4, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/icd10cm.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2023-11-08/icd10cm.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-01-31/icd10cm.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/icd10who-metrics.json b/src/ontology/metadata/icd10who-metrics.json index e5dd183b..c5a2da4a 100644 --- a/src/ontology/metadata/icd10who-metrics.json +++ b/src/ontology/metadata/icd10who-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 4, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/icd10who.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2023-11-08/icd10who.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-01-31/icd10who.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/ncit-metrics.json b/src/ontology/metadata/ncit-metrics.json index b334eed6..c4983942 100644 --- a/src/ontology/metadata/ncit-metrics.json +++ b/src/ontology/metadata/ncit-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 7, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/ncit.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2023-11-08/ncit.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-01-31/ncit.owl", "owl2": true, "owl2_dl": true, "owl2_el": false, diff --git a/src/ontology/metadata/omim-metrics.json b/src/ontology/metadata/omim-metrics.json index 0a6db7d6..9d603827 100644 --- a/src/ontology/metadata/omim-metrics.json +++ b/src/ontology/metadata/omim-metrics.json @@ -4,10 +4,10 @@ "abox_axiom_count_incl": 0, "annotation_property_count": 13, "annotation_property_count_incl": 13, - "axiom_count": 348742, - "axiom_count_incl": 348742, - "class_count": 31563, - "class_count_incl": 31563, + "axiom_count": 349945, + "axiom_count_incl": 349945, + "class_count": 31683, + "class_count_incl": 31683, "dataproperty_count": 0, "dataproperty_count_incl": 0, "datatypes_count": 2, @@ -20,13 +20,13 @@ "expressivity_incl": "E", "individual_count": 0, "individual_count_incl": 0, - "logical_axiom_count": 36188, - "logical_axiom_count_incl": 36188, + "logical_axiom_count": 36367, + "logical_axiom_count_incl": 36367, "obj_property_count": 6, "obj_property_count_incl": 6, "ontology_anno_count": 1, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/omim.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2023-11-08/omim.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-01-31/omim.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, @@ -37,13 +37,13 @@ "rdfs": false, "rule_count": 0, "rule_count_incl": 0, - "signature_entity_count": 31584, - "signature_entity_count_incl": 31584, + "signature_entity_count": 31704, + "signature_entity_count_incl": 31704, "syntax": "RDF/XML Syntax", - "tbox_axiom_count": 36188, - "tbox_axiom_count_incl": 36188, - "tboxrbox_axiom_count": 36188, - "tboxrbox_axiom_count_incl": 36188, + "tbox_axiom_count": 36367, + "tbox_axiom_count_incl": 36367, + "tboxrbox_axiom_count": 36367, + "tboxrbox_axiom_count_incl": 36367, "axiom_types": [ "AnnotationAssertion", "Declaration", @@ -63,22 +63,22 @@ "valid_imports": [], "valid_imports_incl": [], "axiom_type_count": { - "AnnotationAssertion": 280976, - "Declaration": 31578, - "SubClassOf": 36188 + "AnnotationAssertion": 281880, + "Declaration": 31698, + "SubClassOf": 36367 }, "axiom_type_count_incl": { - "AnnotationAssertion": 280976, - "Declaration": 31578, - "SubClassOf": 36188 + "AnnotationAssertion": 281880, + "Declaration": 31698, + "SubClassOf": 36367 }, "class_expression_count": { - "Class": 103933, - "ObjectSomeValuesFrom": 14240 + "Class": 104411, + "ObjectSomeValuesFrom": 14302 }, "class_expression_count_incl": { - "Class": 103933, - "ObjectSomeValuesFrom": 14240 + "Class": 104411, + "ObjectSomeValuesFrom": 14302 }, "curie_map": { "oboInOwl": "http://www.geneontology.org/formats/oboInOwl#", @@ -95,41 +95,41 @@ "RO": "http://purl.obolibrary.org/obo/RO_" }, "namespace_axiom_count": { - "prefix_unknown": 79271, - "oboInOwl": 90770, - "MONDO": 18883, - "rdf": 7099, + "prefix_unknown": 79648, + "oboInOwl": 91130, + "MONDO": 18960, + "rdf": 7142, "owl": 1359, "IAO": 55201, - "skos": 59776, - "rdfs": 36242, - "biolink": 33052, - "CHR": 7523, - "SO": 17139, - "RO": 14246 + "skos": 59999, + "rdfs": 36406, + "biolink": 33218, + "CHR": 7546, + "SO": 17217, + "RO": 14308 }, "namespace_axiom_count_incl": { - "prefix_unknown": 79271, - "oboInOwl": 90770, - "MONDO": 18883, - "rdf": 7099, + "prefix_unknown": 79648, + "oboInOwl": 91130, + "MONDO": 18960, + "rdf": 7142, "owl": 1359, "IAO": 55201, - "skos": 59776, - "rdfs": 36242, - "biolink": 33052, - "CHR": 7523, - "SO": 17139, - "RO": 14246 + "skos": 59999, + "rdfs": 36406, + "biolink": 33218, + "CHR": 7546, + "SO": 17217, + "RO": 14308 }, "namespace_entity_count": { - "prefix_unknown": 30117, + "prefix_unknown": 30236, "oboInOwl": 3, "owl": 2, "xsd": 1, "skos": 1, "rdfs": 2, - "CHR": 1445, + "CHR": 1446, "MONDO": 1, "rdf": 1, "IAO": 2, @@ -138,13 +138,13 @@ "RO": 6 }, "namespace_entity_count_incl": { - "prefix_unknown": 30117, + "prefix_unknown": 30236, "oboInOwl": 3, "owl": 2, "xsd": 1, "skos": 1, "rdfs": 2, - "CHR": 1445, + "CHR": 1446, "MONDO": 1, "rdf": 1, "IAO": 2, diff --git a/src/ontology/metadata/ordo-metrics.json b/src/ontology/metadata/ordo-metrics.json index 70717b8a..2babedb5 100644 --- a/src/ontology/metadata/ordo-metrics.json +++ b/src/ontology/metadata/ordo-metrics.json @@ -4,10 +4,10 @@ "abox_axiom_count_incl": 0, "annotation_property_count": 8, "annotation_property_count_incl": 8, - "axiom_count": 144682, - "axiom_count_incl": 144682, - "class_count": 14994, - "class_count_incl": 14994, + "axiom_count": 155842, + "axiom_count_incl": 155842, + "class_count": 14917, + "class_count_incl": 14917, "dataproperty_count": 0, "dataproperty_count_incl": 0, "datatypes_count": 2, @@ -20,13 +20,13 @@ "expressivity_incl": "E", "individual_count": 0, "individual_count_incl": 0, - "logical_axiom_count": 42458, - "logical_axiom_count_incl": 42458, + "logical_axiom_count": 42481, + "logical_axiom_count_incl": 42481, "obj_property_count": 3, "obj_property_count_incl": 3, "ontology_anno_count": 0, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/ordo.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2023-11-08/ordo.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-01-31/ordo.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, @@ -37,13 +37,13 @@ "rdfs": false, "rule_count": 0, "rule_count_incl": 0, - "signature_entity_count": 15007, - "signature_entity_count_incl": 15007, + "signature_entity_count": 14930, + "signature_entity_count_incl": 14930, "syntax": "RDF/XML Syntax", - "tbox_axiom_count": 42458, - "tbox_axiom_count_incl": 42458, - "tboxrbox_axiom_count": 42458, - "tboxrbox_axiom_count_incl": 42458, + "tbox_axiom_count": 42481, + "tbox_axiom_count_incl": 42481, + "tboxrbox_axiom_count": 42481, + "tboxrbox_axiom_count_incl": 42481, "axiom_types": [ "AnnotationAssertion", "Declaration", @@ -63,22 +63,22 @@ "valid_imports": [], "valid_imports_incl": [], "axiom_type_count": { - "AnnotationAssertion": 87221, - "Declaration": 15003, - "SubClassOf": 42458 + "AnnotationAssertion": 98435, + "Declaration": 14926, + "SubClassOf": 42481 }, "axiom_type_count_incl": { - "AnnotationAssertion": 87221, - "Declaration": 15003, - "SubClassOf": 42458 + "AnnotationAssertion": 98435, + "Declaration": 14926, + "SubClassOf": 42481 }, "class_expression_count": { - "Class": 99910, - "ObjectSomeValuesFrom": 6688 + "Class": 99879, + "ObjectSomeValuesFrom": 6737 }, "class_expression_count_incl": { - "Class": 99910, - "ObjectSomeValuesFrom": 6688 + "Class": 99879, + "ObjectSomeValuesFrom": 6737 }, "curie_map": { "oboInOwl": "http://www.geneontology.org/formats/oboInOwl#", @@ -90,25 +90,25 @@ "RO": "http://purl.obolibrary.org/obo/RO_" }, "namespace_axiom_count": { - "prefix_unknown": 99910, - "oboInOwl": 97505, - "rdf": 29380, - "owl": 1470, - "IAO": 6815, - "rdfs": 11006, - "RO": 6691 + "prefix_unknown": 99879, + "oboInOwl": 115766, + "rdf": 36280, + "owl": 1391, + "IAO": 6833, + "rdfs": 10920, + "RO": 6740 }, "namespace_axiom_count_incl": { - "prefix_unknown": 99910, - "oboInOwl": 97505, - "rdf": 29380, - "owl": 1470, - "IAO": 6815, - "rdfs": 11006, - "RO": 6691 + "prefix_unknown": 99879, + "oboInOwl": 115766, + "rdf": 36280, + "owl": 1391, + "IAO": 6833, + "rdfs": 10920, + "RO": 6740 }, "namespace_entity_count": { - "prefix_unknown": 14994, + "prefix_unknown": 14917, "oboInOwl": 5, "owl": 1, "rdf": 1, @@ -118,7 +118,7 @@ "RO": 3 }, "namespace_entity_count_incl": { - "prefix_unknown": 14994, + "prefix_unknown": 14917, "oboInOwl": 5, "owl": 1, "rdf": 1, diff --git a/src/ontology/reports/component_signature-omim.tsv b/src/ontology/reports/component_signature-omim.tsv index d71be43b..4d2d0c82 100644 --- a/src/ontology/reports/component_signature-omim.tsv +++ b/src/ontology/reports/component_signature-omim.tsv @@ -96,6 +96,7 @@ + @@ -8825,6 +8826,7 @@ + @@ -29990,6 +29992,8 @@ + + @@ -30004,6 +30008,7 @@ + @@ -30036,9 +30041,15 @@ + + + + + + @@ -31425,6 +31436,7 @@ + @@ -31524,6 +31536,7 @@ + diff --git a/src/ontology/reports/doid.subclass.added.robot.tsv b/src/ontology/reports/doid.subclass.added.robot.tsv index 88fb11a1..78ea3cec 100644 --- a/src/ontology/reports/doid.subclass.added.robot.tsv +++ b/src/ontology/reports/doid.subclass.added.robot.tsv @@ -4203,7 +4203,6 @@ MONDO:0859518 leukodystrophy, hypomyelinating, 26, with chondrodysplasia MONDO:0 MONDO:0859523 congenital myopathy 2c, severe infantile, autosomal dominant MONDO:0000426 DOID:0081340 DOID:0050736 autosomal dominant disease MONDO:8000006 WHIM syndrome 1 MONDO:0000426 DOID:0060591 DOID:0050736 autosomal dominant disease MONDO:8000006 WHIM syndrome 1 MONDO:0003778 DOID:0060591 DOID:612 inborn error of immunity -MONDO:8000008 Martsolf syndrome 1 MONDO:0002254 DOID:0111586 DOID:225 syndromic disease MONDO:8000008 Martsolf syndrome 1 MONDO:0006025 DOID:0111586 DOID:0050737 autosomal recessive disease MONDO:8000010 antiphospholipid syndrome MONDO:0000603 DOID:2988 DOID:0060051 autoimmune disorder of cardiovascular system MONDO:8000024 autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD MONDO:0006025 DOID:0110119 DOID:0050737 autosomal recessive disease diff --git a/src/ontology/reports/mirror_signature-doid.tsv b/src/ontology/reports/mirror_signature-doid.tsv index dbff8500..c582be08 100644 --- a/src/ontology/reports/mirror_signature-doid.tsv +++ b/src/ontology/reports/mirror_signature-doid.tsv @@ -15716,6 +15716,7 @@ + @@ -15864,6 +15865,7 @@ + @@ -16209,6 +16211,7 @@ + @@ -17816,6 +17819,7 @@ + diff --git a/src/ontology/reports/mirror_signature-mondo.tsv b/src/ontology/reports/mirror_signature-mondo.tsv index 29c70667..9c35e200 100644 --- a/src/ontology/reports/mirror_signature-mondo.tsv +++ b/src/ontology/reports/mirror_signature-mondo.tsv @@ -42152,6 +42152,8 @@ + + @@ -42430,6 +42432,7 @@ + diff --git a/src/ontology/reports/mirror_signature-omim.tsv b/src/ontology/reports/mirror_signature-omim.tsv index 08e5b1c2..fafb424f 100644 --- a/src/ontology/reports/mirror_signature-omim.tsv +++ b/src/ontology/reports/mirror_signature-omim.tsv @@ -7381,6 +7381,7 @@ + @@ -28546,6 +28547,8 @@ + + @@ -28560,6 +28563,7 @@ + @@ -28592,9 +28596,15 @@ + + + + + + @@ -28921,6 +28931,7 @@ + @@ -29020,6 +29031,7 @@ + diff --git a/src/ontology/reports/ncit.subclass.added.robot.tsv b/src/ontology/reports/ncit.subclass.added.robot.tsv index 8713704f..8c50c890 100644 --- a/src/ontology/reports/ncit.subclass.added.robot.tsv +++ b/src/ontology/reports/ncit.subclass.added.robot.tsv @@ -462,5 +462,4 @@ MONDO:0044873 childhood myelodysplastic syndrome MONDO:0006517 NCIT:C68744 NCIT: MONDO:0045070 digestive system melanoma MONDO:0000544 NCIT:C7091 NCIT:C114828 mucosal melanoma MONDO:0056813 hormone-resistant breast carcinoma MONDO:0004988 NCIT:C114932 NCIT:C5214 breast adenocarcinoma MONDO:0100396 acute myeloid leukemia, t(7;12)(q36;p13) MONDO:0004996 NCIT:C122690 NCIT:C9160 childhood acute myeloid leukemia -MONDO:0100534 SMARCB1-deficient kidney medullary carcinoma MONDO:0006260 NCIT:C189247 NCIT:C7572 kidney medullary carcinoma MONDO:0700219 neoplastic meningitis MONDO:0003762 NCIT:C3814 NCIT:C8506 malignant leptomeningeal tumor diff --git a/src/ontology/reports/omim_exclusion_reasons.robot.template.tsv b/src/ontology/reports/omim_exclusion_reasons.robot.template.tsv index 14005138..a83ce6e0 100644 --- a/src/ontology/reports/omim_exclusion_reasons.robot.template.tsv +++ b/src/ontology/reports/omim_exclusion_reasons.robot.template.tsv @@ -17436,6 +17436,8 @@ OMIM:620623 MONDO:excludeGene OMIM:620624 MONDO:excludeGene OMIM:620625 MONDO:excludeGene OMIM:620626 MONDO:excludeGene +OMIM:620627 MONDO:excludeGene +OMIM:620628 MONDO:excludeGene OMIM:620630 MONDO:excludeGene OMIM:620631 MONDO:excludeGene OMIM:620633 MONDO:excludeGene @@ -17443,6 +17445,7 @@ OMIM:620634 MONDO:excludeGene OMIM:620637 MONDO:excludeGene OMIM:620638 MONDO:excludeGene OMIM:620640 MONDO:excludeGene +OMIM:620643 MONDO:excludeGene OMIM:620648 MONDO:excludeGene OMIM:620649 MONDO:excludeGene OMIM:620650 MONDO:excludeGene @@ -17462,6 +17465,8 @@ OMIM:620678 MONDO:excludeGene OMIM:620682 MONDO:excludeGene OMIM:620684 MONDO:excludeGene OMIM:620685 MONDO:excludeGene +OMIM:620689 MONDO:excludeGene +OMIM:620691 MONDO:excludeGene OMIM:109780 MONDO:excludeNonDisease OMIM:116950 MONDO:excludeNonDisease OMIM:174750 MONDO:excludeNonDisease @@ -36459,6 +36464,8 @@ OMIM:620623 MONDO:nonDisease OMIM:620624 MONDO:nonDisease OMIM:620625 MONDO:nonDisease OMIM:620626 MONDO:nonDisease +OMIM:620627 MONDO:nonDisease +OMIM:620628 MONDO:nonDisease OMIM:620630 MONDO:nonDisease OMIM:620631 MONDO:nonDisease OMIM:620633 MONDO:nonDisease @@ -36466,6 +36473,7 @@ OMIM:620634 MONDO:nonDisease OMIM:620637 MONDO:nonDisease OMIM:620638 MONDO:nonDisease OMIM:620640 MONDO:nonDisease +OMIM:620643 MONDO:nonDisease OMIM:620648 MONDO:nonDisease OMIM:620649 MONDO:nonDisease OMIM:620650 MONDO:nonDisease @@ -36485,3 +36493,5 @@ OMIM:620678 MONDO:nonDisease OMIM:620682 MONDO:nonDisease OMIM:620684 MONDO:nonDisease OMIM:620685 MONDO:nonDisease +OMIM:620689 MONDO:nonDisease +OMIM:620691 MONDO:nonDisease diff --git a/src/ontology/reports/omim_mapping_status.tsv b/src/ontology/reports/omim_mapping_status.tsv index 9cd9d29a..1aa8a51a 100644 --- a/src/ontology/reports/omim_mapping_status.tsv +++ b/src/ontology/reports/omim_mapping_status.tsv @@ -1,6 +1,7 @@ subject_id subject_label is_mapped is_excluded is_deprecated OMIM:301108 cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 False False False OMIM:301114 lui-jee-baron syndrome False False False +OMIM:301115 immunodeficiency 118 False False False OMIM:613035 hearing loss, noise-induced, susceptibility to False False False OMIM:620150 epidermolytic hyperkeratosis 2 False False False OMIM:620300 mitochondrial trifunctional protein deficiency 2 False False False @@ -96,6 +97,10 @@ OMIM:620674 neutropenia, severe congenital, 11, autosomal dominant False False F OMIM:620675 leukodystrophy, hypomyelinating, 27 False False False OMIM:620679 lipodystrophy, familial partial, iia 8 False False False OMIM:620680 lipodystrophy, congenital generalized, iia 5 False False False +OMIM:620681 myoclonic epilepsy of lafora 2 False False False +OMIM:620683 lipodystrophy, familial partial, iia 9 False False False +OMIM:620686 premature ovarian failure 23 False False False +OMIM:620690 developmental dysplasia of the hip 3 False False False OMIMPS:109400 Basal cell nevus syndrome False False False OMIMPS:113800 Epidermolytic hyperkeratosis False False False OMIMPS:141200 Hematuria, benign familial False False False @@ -104,8 +109,10 @@ OMIMPS:164210 Craniofacial Microsomia False False False OMIMPS:164300 Oculopharyngeal muscular dystrophy False False False OMIMPS:167030 Nephrolithiasis, calcium oxalate False False False OMIMPS:177735 Pseudohypoaldosteronism, type I False False False +OMIMPS:254780 Myoclonic epilepsy of Lafora False False False OMIMPS:301108 Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 False False False OMIMPS:305450 FG syndrome False False False +OMIMPS:601104 Supranuclear palsy, progressive False False False OMIMPS:604498 Amegakaryocytic thrombocytopenia, congenital False False False OMIMPS:605899 Glycine encephalopathy False False False OMIMPS:608415 Prolonged electroretinal response suppression False False False @@ -10341,8 +10348,8 @@ OMIM:606953 GALE False True False OMIM:606954 ZNF253 False True False OMIM:606956 ZNF256 False True False OMIM:606957 ZNF257 False True False -OMIM:606958 MPP5 False True False -OMIM:606959 MPP6 False True False +OMIM:606958 PALS1 False True False +OMIM:606959 PALS2 False True False OMIM:606961 WBP1 False True False OMIM:606962 WBP2 False True False OMIM:606964 STK38 False True False @@ -18951,6 +18958,8 @@ OMIM:620623 MIR522 False True False OMIM:620624 MIR519A1 False True False OMIM:620625 MIR527 False True False OMIM:620626 MIR516A1 False True False +OMIM:620627 MIR516A2 False True False +OMIM:620628 MIR519A2 False True False OMIM:620630 TMEM170A False True False OMIM:620631 EMC7 False True False OMIM:620633 GOLT1A False True False @@ -18958,6 +18967,7 @@ OMIM:620634 IRGC False True False OMIM:620637 CPED1 False True False OMIM:620638 KCTD4 False True False OMIM:620640 RNF145 False True False +OMIM:620643 MIR1323 False True False OMIM:620648 BTNL9 False True False OMIM:620649 PLA2G4E False True False OMIM:620650 GLOD4 False True False @@ -18977,6 +18987,8 @@ OMIM:620678 RINL False True False OMIM:620682 SZRD1 False True False OMIM:620684 HGH1 False True False OMIM:620685 C19ORF53 False True False +OMIM:620689 LSM14B False True False +OMIM:620691 BUD13 False True False OMIM:616915 removed from database False True True OMIM:100070 aortic aneurysm, familial abdominal, 1 True False False OMIM:100100 prune belly syndrome True False False @@ -20669,7 +20681,7 @@ OMIM:254450 myelofibrosis True False False OMIM:254500 myeloma, multiple True False False OMIM:254600 myeloperoxidase deficiency True False False OMIM:254770 epilepsy, myoclonic juvenile True False False -OMIM:254780 myoclonic epilepsy of lafora True False False +OMIM:254780 myoclonic epilepsy of lafora 1 True False False OMIM:254800 myoclonic epilepsy of unverricht and lundborg True False False OMIM:254900 epilepsy, progressive myoclonic, 4, with or without renal failure True False False OMIM:254940 carey-fineman-ziter syndrome 1 True False False @@ -21733,7 +21745,7 @@ OMIM:601543 deafness, autosomal dominant 12 True False False OMIM:601544 deafness, autosomal dominant 3a True False False OMIM:601547 cataract 3, multiple types True False False OMIM:601549 alacrima, congenital, autosomal recessive True False False -OMIM:601552 facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs True False False +OMIM:601552 traboulsi syndrome True False False OMIM:601553 hypotrichosis, congenital, with juvenile macular dystrophy True False False OMIM:601559 stuve-wiedemann syndrome 1 True False False OMIM:601583 wilms tumor 5 True False False diff --git a/src/ontology/reports/omim_term_exclusions.txt b/src/ontology/reports/omim_term_exclusions.txt index 9291612e..47c08a0d 100644 --- a/src/ontology/reports/omim_term_exclusions.txt +++ b/src/ontology/reports/omim_term_exclusions.txt @@ -19140,6 +19140,8 @@ OMIM:620623 OMIM:620624 OMIM:620625 OMIM:620626 +OMIM:620627 +OMIM:620628 OMIM:620630 OMIM:620631 OMIM:620633 @@ -19147,6 +19149,7 @@ OMIM:620634 OMIM:620637 OMIM:620638 OMIM:620640 +OMIM:620643 OMIM:620648 OMIM:620649 OMIM:620650 @@ -19166,3 +19169,5 @@ OMIM:620678 OMIM:620682 OMIM:620684 OMIM:620685 +OMIM:620689 +OMIM:620691 diff --git a/src/ontology/reports/omim_unmapped_terms.tsv b/src/ontology/reports/omim_unmapped_terms.tsv index 91c23414..a26f0881 100644 --- a/src/ontology/reports/omim_unmapped_terms.tsv +++ b/src/ontology/reports/omim_unmapped_terms.tsv @@ -14,10 +14,12 @@ OMIMPS:616355 Houge-Janssens syndrome OMIMPS:619382 Leber hereditary optic neuropathy, autosomal recessive OMIMPS:151623 Li-Fraumeni syndrome OMIMPS:609015 Mitochondrial trifunctional protein deficiency +OMIMPS:254780 Myoclonic epilepsy of Lafora OMIMPS:167030 Nephrolithiasis, calcium oxalate OMIMPS:164300 Oculopharyngeal muscular dystrophy OMIMPS:608415 Prolonged electroretinal response suppression OMIMPS:177735 Pseudohypoaldosteronism, type I +OMIMPS:601104 Supranuclear palsy, progressive OMIM:620655 alfadhel syndrome OMIM:620536 alport syndrome 3b, autosomal recessive OMIM:620481 amegakaryocytic thrombocytopenia, congenital, 2 @@ -44,6 +46,7 @@ OMIM:620504 developmental and epileptic encephalopathy 111 OMIM:620537 developmental and epileptic encephalopathy 112 OMIM:620540 developmental delay with or without epilepsy OMIM:620535 developmental delay, dysmorphic facies, and brain anomalies +OMIM:620690 developmental dysplasia of the hip 3 OMIM:620651 diabetes, deafness, developmental delay, and short stature syndrome OMIM:620461 encephalitis, acute, infection-induced, susceptibility to, 12 OMIM:620150 epidermolytic hyperkeratosis 2 @@ -61,6 +64,7 @@ OMIM:620565 immunodeficiency 113 with autoimmunity and autoinflammation OMIM:620603 immunodeficiency 114, folate-responsive OMIM:620632 immunodeficiency 115 with autoinflammation OMIM:620668 immunodeficiency 117 +OMIM:301115 immunodeficiency 118 OMIM:620670 immunodeficiency, common variable, 15 OMIM:620653 intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly OMIM:620569 leber-like hereditary optic neuropathy, autosomal recessive 2 @@ -71,11 +75,13 @@ OMIM:620314 leukoencephalopathy with vanishing white matter 4 OMIM:620315 leukoencephalopathy with vanishing white matter 5 OMIM:620680 lipodystrophy, congenital generalized, iia 5 OMIM:620679 lipodystrophy, familial partial, iia 8 +OMIM:620683 lipodystrophy, familial partial, iia 9 OMIM:620609 long-olsen-distelmaier syndrome OMIM:620410 low density lipoprotein cholesterol level quantitative trait locus 3 OMIM:301114 lui-jee-baron syndrome OMIM:620602 lymphatic malformation 14 OMIM:620300 mitochondrial trifunctional protein deficiency 2 +OMIM:620681 myoclonic epilepsy of lafora 2 OMIM:620374 nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis OMIM:620669 neurodegeneration with brain iron accumulation 9 OMIM:620636 neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline @@ -97,6 +103,7 @@ OMIM:620639 osteogenesis imperfecta, iia 23 OMIM:620576 otosclerosis 11 OMIM:620482 parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development OMIM:620548 premature ovarian failure 22 +OMIM:620686 premature ovarian failure 23 OMIM:620647 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6 OMIM:620344 prolonged electroretinal response suppression 2 OMIM:620666 spastic ataxia 10, autosomal recessive diff --git a/src/ontology/reports/ordo.subclass.confirmed.robot.tsv b/src/ontology/reports/ordo.subclass.confirmed.robot.tsv index a508367e..bf4f1d23 100644 --- a/src/ontology/reports/ordo.subclass.confirmed.robot.tsv +++ b/src/ontology/reports/ordo.subclass.confirmed.robot.tsv @@ -2832,7 +2832,6 @@ MONDO:0016619 autosomal recessive hypohidrotic ectodermal dysplasia MONDO:001653 MONDO:0016642 meningioma MONDO:0016743 Orphanet:2495 Orphanet:252025 tumor of meninges MONDO:0016644 logopenic progressive aphasia MONDO:0019806 Orphanet:250831 Orphanet:95432 primary progressive aphasia MONDO:0016646 autosomal dominant optic atrophy and peripheral neuropathy MONDO:0020250 Orphanet:250932 Orphanet:98672 autosomal dominant optic atrophy -MONDO:0016649 Warburg micro syndrome MONDO:0016073 Orphanet:2510 Orphanet:202948 syndromic microphthalmia MONDO:0016652 2q31.1 microdeletion syndrome MONDO:0016901 Orphanet:251014 Orphanet:262010 partial deletion of the long arm of chromosome 2 MONDO:0016653 2q33.1 microdeletion syndrome MONDO:0016901 Orphanet:251028 Orphanet:262010 partial deletion of the long arm of chromosome 2 MONDO:0016655 6p22 microdeletion syndrome MONDO:0016888 Orphanet:251046 Orphanet:261902 partial deletion of the short arm of chromosome 6 diff --git a/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv b/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv index 56b203bd..56331b0c 100644 --- a/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv +++ b/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv @@ -13587,7 +13587,6 @@ MONDO:0016648 MONDO:0005516 True multiple epiphyseal dysplasia osteochondrodyspl MONDO:0016648 MONDO:0018230 True multiple epiphyseal dysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016649 MONDO:0006025 True Warburg micro syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0016649 MONDO:0015159 True Warburg micro syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016649 MONDO:0016073 True Warburg micro syndrome syndromic microphthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0016649 MONDO:0018838 True Warburg micro syndrome lissencephaly spectrum disorders UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0016652 MONDO:0016901 True 2q31.1 microdeletion syndrome partial deletion of the long arm of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016653 MONDO:0016901 True 2q33.1 microdeletion syndrome partial deletion of the long arm of chromosome 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27764,6 +27763,7 @@ MONDO:0016638 MONDO:0008737 False familial hypodysfibrinogenemia congenital afib MONDO:0016639 MONDO:0002254 False lower limb deficiency-hypospadias syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016641 MONDO:0003847 False limb transversal defect-cardiac anomaly syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016643 MONDO:0003847 False frontonasal dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0016649 MONDO:0700247 False Warburg micro syndrome RAB18 deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016650 MONDO:0700008 False paternal uniparental disomy of chromosome 1 chromosome 1 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016650 MONDO:0700086 False paternal uniparental disomy of chromosome 1 uniparental disomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016651 MONDO:0700008 False maternal uniparental disomy of chromosome 1 chromosome 1 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30693,7 +30693,7 @@ MONDO:0023865 MONDO:0003085 False corneal infection keratitis UNSUPPORTED-MISSIN MONDO:0023865 MONDO:0016047 False corneal infection endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023868 MONDO:0005283 False melanoma associated retinopathy retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023880 MONDO:0003847 False WHIM syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0023910 MONDO:0003847 False Martsolf syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0023910 MONDO:0700247 False Martsolf syndrome RAB18 deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0023961 MONDO:0003847 False visceral neuropathy, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024183 MONDO:0005071 False wet beriberi nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0024189 MONDO:0003847 False neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING diff --git a/src/ontology/slurp/ncit.tsv b/src/ontology/slurp/ncit.tsv index 916043c3..75772ee5 100644 --- a/src/ontology/slurp/ncit.tsv +++ b/src/ontology/slurp/ncit.tsv @@ -404,7 +404,6 @@ MONDO:0854783 bladder soft tissue neoplasm NCIT:C158636 MONDO:equivalentTo Bladd MONDO:0854795 early stage pancreatic ductal adenocarcinoma NCIT:C158961 MONDO:equivalentTo Early Stage Pancreatic Ductal Adenocarcinoma MONDO:0005184 MONDO:0854803 kidney rhabdomyosarcoma NCIT:C159206 MONDO:equivalentTo Kidney Rhabdomyosarcoma MONDO:0002930|MONDO:0005212 MONDO:0854804 kidney ewing sarcoma NCIT:C159208 MONDO:equivalentTo Kidney Ewing Sarcoma MONDO:0018270|MONDO:0002930 -MONDO:0854805 kidney leiomyoma NCIT:C159209 MONDO:equivalentTo Kidney Leiomyoma MONDO:0002513|MONDO:0001572 MONDO:0854806 kidney hemangioma NCIT:C159211 MONDO:equivalentTo Kidney Hemangioma MONDO:0002513|MONDO:0006500 MONDO:0854807 kidney lymphangioma NCIT:C159214 MONDO:equivalentTo Kidney Lymphangioma MONDO:0002013|MONDO:0002513 MONDO:0854808 kidney schwannoma NCIT:C159221 MONDO:equivalentTo Kidney Schwannoma MONDO:0002513|MONDO:0004820 diff --git a/src/ontology/slurp/omim.tsv b/src/ontology/slurp/omim.tsv index 6ee9bbcc..1459f709 100644 --- a/src/ontology/slurp/omim.tsv +++ b/src/ontology/slurp/omim.tsv @@ -6,14 +6,12 @@ MONDO:0957316 epidermolytic hyperkeratosis OMIMPS:113800 MONDO:equivalentTo Epid MONDO:0957317 hematuria, benign familial OMIMPS:141200 MONDO:equivalentTo Hematuria, benign familial MONDO:0957318 nephrolithiasis, calcium oxalate OMIMPS:167030 MONDO:equivalentTo Nephrolithiasis, calcium oxalate MONDO:0957319 pseudohypoaldosteronism, type i OMIMPS:177735 MONDO:equivalentTo Pseudohypoaldosteronism, type I -MONDO:0957320 lysosomal acid lipase deficiency OMIMPS:278000 MONDO:equivalentTo Lysosomal acid lipase deficiency MONDO:0957322 glycine encephalopathy OMIMPS:605899 MONDO:equivalentTo Glycine encephalopathy MONDO:0957323 prolonged electroretinal response suppression OMIMPS:608415 MONDO:equivalentTo Prolonged electroretinal response suppression MONDO:0957324 mitochondrial trifunctional protein deficiency OMIMPS:609015 MONDO:equivalentTo Mitochondrial trifunctional protein deficiency MONDO:0957325 c1q deficiency OMIMPS:613652 MONDO:equivalentTo C1q deficiency MONDO:0957400 cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 OMIMPS:301108 MONDO:equivalentTo Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 MONDO:0957498 craniofacial microsomia OMIMPS:164210 MONDO:equivalentTo Craniofacial Microsomia -MONDO:0957550 birt-hogg-dube syndrome OMIMPS:135150 MONDO:equivalentTo Birt-Hogg-Dube syndrome MONDO:0957551 oculopharyngeal muscular dystrophy OMIMPS:164300 MONDO:equivalentTo Oculopharyngeal muscular dystrophy MONDO:0957552 chronic recurrent multifocal osteomyelitis OMIMPS:609628 MONDO:equivalentTo Chronic recurrent multifocal osteomyelitis MONDO:0957553 houge-janssens syndrome OMIMPS:616355 MONDO:equivalentTo Houge-Janssens syndrome @@ -21,7 +19,6 @@ MONDO:0957560 hearing loss, noise-induced, susceptibility to OMIM:613035 MONDO:e MONDO:0957561 encephalitis, acute, infection-induced, susceptibility to, 12 OMIM:620461 MONDO:equivalentTo encephalitis, acute, infection-induced, susceptibility to, 12 MONDO:0000166 MONDO:0957563 cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay OMIM:620469 MONDO:equivalentTo cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay MONDO:0957564 congenital smooth muscle hamartoma, with or without hemihypertrophy OMIM:620470 MONDO:equivalentTo congenital smooth muscle hamartoma, with or without hemihypertrophy -MONDO:0957569 thrombocytopenia 8, with dysmorphic features and developmental delay OMIM:620475 MONDO:equivalentTo thrombocytopenia 8, with dysmorphic features and developmental delay MONDO:0100241 MONDO:0957572 thrombocytopenia 9 OMIM:620478 MONDO:equivalentTo thrombocytopenia 9 MONDO:0100241 MONDO:0957575 amegakaryocytic thrombocytopenia, congenital, 2 OMIM:620481 MONDO:equivalentTo amegakaryocytic thrombocytopenia, congenital, 2 MONDO:0957576 parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development OMIM:620482 MONDO:equivalentTo parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development MONDO:0005180 @@ -71,109 +68,42 @@ MONDO:0957919 lui-jee-baron syndrome OMIM:301114 MONDO:equivalentTo lui-jee-baro MONDO:0957920 immunodeficiency 113 with autoimmunity and autoinflammation OMIM:620565 MONDO:equivalentTo immunodeficiency 113 with autoimmunity and autoinflammation MONDO:0021094 MONDO:0957921 cornelia lange lange syndrome 6 OMIM:620568 MONDO:equivalentTo cornelia lange lange syndrome 6 MONDO:0016033 MONDO:0957922 ciliary dyskinesia, primary, 52 OMIM:620570 MONDO:equivalentTo ciliary dyskinesia, primary, 52 MONDO:0016575 -MONDO:0957923 mir512-1 OMIM:620571 MONDO:equivalentTo MIR512-1 -MONDO:0957924 mir512-2 OMIM:620572 MONDO:equivalentTo MIR512-2 -MONDO:0957925 mir520e OMIM:620573 MONDO:equivalentTo MIR520E -MONDO:0957926 mir515-1 OMIM:620574 MONDO:equivalentTo MIR515-1 -MONDO:0957927 mir519e OMIM:620575 MONDO:equivalentTo MIR519E MONDO:0957928 otosclerosis 11 OMIM:620576 MONDO:equivalentTo otosclerosis 11 MONDO:0005349 -MONDO:0957929 fads6 OMIM:620577 MONDO:equivalentTo FADS6 -MONDO:0957930 uqcc4 OMIM:620578 MONDO:equivalentTo UQCC4 -MONDO:0957931 ccdc3 OMIM:620579 MONDO:equivalentTo CCDC3 -MONDO:0957932 dqx1 OMIM:620580 MONDO:equivalentTo DQX1 -MONDO:0957933 oxnad1 OMIM:620581 MONDO:equivalentTo OXNAD1 -MONDO:0957934 c1orf210 OMIM:620582 MONDO:equivalentTo C1ORF210 MONDO:0957935 optic atrophy 15 OMIM:620583 MONDO:equivalentTo optic atrophy 15 MONDO:0043878 -MONDO:0957936 mir498 OMIM:620584 MONDO:equivalentTo MIR498 -MONDO:0957937 mir520f OMIM:620585 MONDO:equivalentTo MIR520F -MONDO:0957938 mir515-2 OMIM:620586 MONDO:equivalentTo MIR515-2 -MONDO:0957939 mir519c OMIM:620587 MONDO:equivalentTo MIR519C -MONDO:0957940 mir520a OMIM:620588 MONDO:equivalentTo MIR520A -MONDO:0957941 mir526b OMIM:620589 MONDO:equivalentTo MIR526B -MONDO:0957942 rsad1 OMIM:620590 MONDO:equivalentTo RSAD1 -MONDO:0957943 mir519b OMIM:620591 MONDO:equivalentTo MIR519B -MONDO:0957944 mir525 OMIM:620592 MONDO:equivalentTo MIR525 -MONDO:0957945 mir523 OMIM:620593 MONDO:equivalentTo MIR523 -MONDO:0957946 mir518f OMIM:620594 MONDO:equivalentTo MIR518F -MONDO:0957947 mir520b OMIM:620595 MONDO:equivalentTo MIR520B -MONDO:0957948 mir518b OMIM:620596 MONDO:equivalentTo MIR518B -MONDO:0957949 mir526a1 OMIM:620597 MONDO:equivalentTo MIR526A1 -MONDO:0957950 mir518c OMIM:620598 MONDO:equivalentTo MIR518C -MONDO:0957951 mir524 OMIM:620599 MONDO:equivalentTo MIR524 -MONDO:0957952 mir517a OMIM:620600 MONDO:equivalentTo MIR517A MONDO:0957953 garg-mishra progeroid syndrome OMIM:620601 MONDO:equivalentTo garg-mishra progeroid syndrome MONDO:0020732 MONDO:0957954 lymphatic malformation 14 OMIM:620602 MONDO:equivalentTo lymphatic malformation 14 MONDO:0019313 MONDO:0957955 immunodeficiency 114, folate-responsive OMIM:620603 MONDO:equivalentTo immunodeficiency 114, folate-responsive MONDO:0021094 -MONDO:0957956 ptgr3 OMIM:620604 MONDO:equivalentTo PTGR3 -MONDO:0957957 cyp27c1 OMIM:620605 MONDO:equivalentTo CYP27C1 MONDO:0957958 spastic paraplegia 72b, autosomal recessive OMIM:620606 MONDO:equivalentTo spastic paraplegia 72b, autosomal recessive MONDO:0019064 -MONDO:0957959 tex264 OMIM:620608 MONDO:equivalentTo TEX264 MONDO:0957960 long-olsen-distelmaier syndrome OMIM:620609 MONDO:equivalentTo long-olsen-distelmaier syndrome MONDO:0957961 oocyte/zygote/embryo maturation arrest 21 OMIM:620610 MONDO:equivalentTo oocyte/zygote/embryo maturation arrest 21 MONDO:0014769 -MONDO:0957962 mir521-2 OMIM:620611 MONDO:equivalentTo MIR521-2 -MONDO:0957963 mir520d OMIM:620612 MONDO:equivalentTo MIR520D -MONDO:0957964 mir517b OMIM:620613 MONDO:equivalentTo MIR517B -MONDO:0957965 mir516b2 OMIM:620614 MONDO:equivalentTo MIR516B2 -MONDO:0957966 mir526a2 OMIM:620615 MONDO:equivalentTo MIR526A2 -MONDO:0957967 mir518e OMIM:620616 MONDO:equivalentTo MIR518E -MONDO:0957968 mir518a1 OMIM:620617 MONDO:equivalentTo MIR518A1 -MONDO:0957969 mir518d OMIM:620618 MONDO:equivalentTo MIR518D -MONDO:0957970 mir516b1 OMIM:620619 MONDO:equivalentTo MIR516B1 -MONDO:0957971 mir518a2 OMIM:620620 MONDO:equivalentTo MIR518A2 -MONDO:0957972 mir517c OMIM:620621 MONDO:equivalentTo MIR517C -MONDO:0957973 mir521-1 OMIM:620622 MONDO:equivalentTo MIR521-1 -MONDO:0957974 mir522 OMIM:620623 MONDO:equivalentTo MIR522 -MONDO:0957975 mir519a1 OMIM:620624 MONDO:equivalentTo MIR519A1 -MONDO:0957976 mir527 OMIM:620625 MONDO:equivalentTo MIR527 -MONDO:0957977 mir516a1 OMIM:620626 MONDO:equivalentTo MIR516A1 MONDO:0957978 optic atrophy 16 OMIM:620629 MONDO:equivalentTo optic atrophy 16 MONDO:0043878 -MONDO:0957979 tmem170a OMIM:620630 MONDO:equivalentTo TMEM170A -MONDO:0957980 emc7 OMIM:620631 MONDO:equivalentTo EMC7 MONDO:0957981 immunodeficiency 115 with autoinflammation OMIM:620632 MONDO:equivalentTo immunodeficiency 115 with autoinflammation MONDO:0021094 -MONDO:0957982 golt1a OMIM:620633 MONDO:equivalentTo GOLT1A -MONDO:0957983 irgc OMIM:620634 MONDO:equivalentTo IRGC MONDO:0957984 cardiomyopathy, dilated, 2j OMIM:620635 MONDO:equivalentTo cardiomyopathy, dilated, 2j MONDO:0016333 MONDO:0957985 neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline OMIM:620636 MONDO:equivalentTo neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline -MONDO:0957986 cped1 OMIM:620637 MONDO:equivalentTo CPED1 -MONDO:0957987 kctd4 OMIM:620638 MONDO:equivalentTo KCTD4 MONDO:0957988 osteogenesis imperfecta, iia 23 OMIM:620639 MONDO:equivalentTo osteogenesis imperfecta, iia 23 MONDO:0019019 -MONDO:0957989 rnf145 OMIM:620640 MONDO:equivalentTo RNF145 MONDO:0957990 tan-almurshedi syndrome OMIM:620641 MONDO:equivalentTo tan-almurshedi syndrome MONDO:0957991 ciliary dyskinesia, primary, 53 OMIM:620642 MONDO:equivalentTo ciliary dyskinesia, primary, 53 MONDO:0016575 MONDO:0957992 combined oxidative phosphorylation deficiency 59 OMIM:620646 MONDO:equivalentTo combined oxidative phosphorylation deficiency 59 MONDO:0000732 MONDO:0957993 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6 OMIM:620647 MONDO:equivalentTo progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6 MONDO:0000090 -MONDO:0957994 btnl9 OMIM:620648 MONDO:equivalentTo BTNL9 -MONDO:0957995 pla2g4e OMIM:620649 MONDO:equivalentTo PLA2G4E -MONDO:0957996 glod4 OMIM:620650 MONDO:equivalentTo GLOD4 MONDO:0957997 diabetes, deafness, developmental delay, and short stature syndrome OMIM:620651 MONDO:equivalentTo diabetes, deafness, developmental delay, and short stature syndrome -MONDO:0957998 sh3bp5l OMIM:620652 MONDO:equivalentTo SH3BP5L MONDO:0957999 intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly OMIM:620653 MONDO:equivalentTo intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly MONDO:0019502 MONDO:0958000 thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies OMIM:620654 MONDO:equivalentTo thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies MONDO:0100241 MONDO:0958001 alfadhel syndrome OMIM:620655 MONDO:equivalentTo alfadhel syndrome -MONDO:0958002 psd2 OMIM:620656 MONDO:equivalentTo PSD2 -MONDO:0958003 ccz1 OMIM:620660 MONDO:equivalentTo CCZ1 -MONDO:0958004 c10orf88 OMIM:620661 MONDO:equivalentTo C10ORF88 MONDO:0958005 hoxha-aliu syndrome OMIM:620662 MONDO:equivalentTo hoxha-aliu syndrome MONDO:0958006 spondyloepimetaphyseal dysplasia, guo-campeau iia OMIM:620663 MONDO:equivalentTo spondyloepimetaphyseal dysplasia, guo-campeau iia -MONDO:0958007 arhgef37 OMIM:620664 MONDO:equivalentTo ARHGEF37 -MONDO:0958008 plekhg4b OMIM:620665 MONDO:equivalentTo PLEKHG4B MONDO:0958009 spastic ataxia 10, autosomal recessive OMIM:620666 MONDO:equivalentTo spastic ataxia 10, autosomal recessive MONDO:0017845 -MONDO:0958010 cep128 OMIM:620667 MONDO:equivalentTo CEP128 MONDO:0958011 immunodeficiency 117 OMIM:620668 MONDO:equivalentTo immunodeficiency 117 MONDO:0021094 MONDO:0958012 neurodegeneration with brain iron accumulation 9 OMIM:620669 MONDO:equivalentTo neurodegeneration with brain iron accumulation 9 MONDO:0018307 MONDO:0958013 immunodeficiency, common variable, 15 OMIM:620670 MONDO:equivalentTo immunodeficiency, common variable, 15 MONDO:0015517 -MONDO:0958014 pou2af2 OMIM:620671 MONDO:equivalentTo POU2AF2 -MONDO:0958015 lrrc24 OMIM:620672 MONDO:equivalentTo LRRC24 -MONDO:0958016 map1lc3b2 OMIM:620673 MONDO:equivalentTo MAP1LC3B2 MONDO:0958017 neutropenia, severe congenital, 11, autosomal dominant OMIM:620674 MONDO:equivalentTo neutropenia, severe congenital, 11, autosomal dominant MONDO:0018542 MONDO:0958018 leukodystrophy, hypomyelinating, 27 OMIM:620675 MONDO:equivalentTo leukodystrophy, hypomyelinating, 27 MONDO:0019046 -MONDO:0958019 ccdc61 OMIM:620676 MONDO:equivalentTo CCDC61 -MONDO:0958020 tmem192 OMIM:620677 MONDO:equivalentTo TMEM192 -MONDO:0958021 rinl OMIM:620678 MONDO:equivalentTo RINL MONDO:0958022 lipodystrophy, familial partial, iia 8 OMIM:620679 MONDO:equivalentTo lipodystrophy, familial partial, iia 8 MONDO:0020088 MONDO:0958023 lipodystrophy, congenital generalized, iia 5 OMIM:620680 MONDO:equivalentTo lipodystrophy, congenital generalized, iia 5 MONDO:0006536 -MONDO:0958024 szrd1 OMIM:620682 MONDO:equivalentTo SZRD1 -MONDO:0958025 hgh1 OMIM:620684 MONDO:equivalentTo HGH1 -MONDO:0958026 c19orf53 OMIM:620685 MONDO:equivalentTo C19ORF53 MONDO:0958027 fg syndrome OMIMPS:305450 MONDO:equivalentTo FG syndrome MONDO:0958028 leber hereditary optic neuropathy, autosomal recessive OMIMPS:619382 MONDO:equivalentTo Leber hereditary optic neuropathy, autosomal recessive +MONDO:0958030 immunodeficiency 118 OMIM:301115 MONDO:equivalentTo immunodeficiency 118 MONDO:0021094 +MONDO:0958034 lipodystrophy, familial partial, iia 9 OMIM:620683 MONDO:equivalentTo lipodystrophy, familial partial, iia 9 +MONDO:0958035 premature ovarian failure 23 OMIM:620686 MONDO:equivalentTo premature ovarian failure 23 MONDO:0019852 +MONDO:0958037 developmental dysplasia of the hip 3 OMIM:620690 MONDO:equivalentTo developmental dysplasia of the hip 3 +MONDO:0958039 myoclonic epilepsy of lafora OMIMPS:254780 MONDO:equivalentTo Myoclonic epilepsy of Lafora +MONDO:0958040 supranuclear palsy, progressive OMIMPS:601104 MONDO:equivalentTo Supranuclear palsy, progressive diff --git a/src/ontology/slurp/ordo.tsv b/src/ontology/slurp/ordo.tsv index 577d8cd9..1e3c687e 100644 --- a/src/ontology/slurp/ordo.tsv +++ b/src/ontology/slurp/ordo.tsv @@ -1,5 +1,99 @@ mondo_id mondo_label xref xref_source original_label definition parents ID LABEL A oboInOwl:hasDbXref >A oboInOwl:source SPLIT=| A IAO:0000115 SC % -MONDO:0957601 group of disorders Orphanet:557492 MONDO:equivalentTo group of disorders A collection of clinical entities sharing a set of common features. -MONDO:0957602 disorder Orphanet:557493 MONDO:equivalentTo disorder A clinical entity characterised by a set of homogeneous phenotypic abnormalities and evolution allowing a definitive clinical diagnosis. -MONDO:0957603 subtype of a disorder Orphanet:557494 MONDO:equivalentTo subtype of a disorder Subdivision of a disorder according to a positive criterion. +MONDO:0958042 genetic cerebellar malformation Orphanet:269560 MONDO:equivalentTo Genetic cerebellar malformation MONDO:8000033|MONDO:0957009 +MONDO:0958043 genetic syndrome with a dandy-walker malformation as a major feature Orphanet:269570 MONDO:equivalentTo Genetic syndrome with a Dandy-Walker malformation as a major feature MONDO:8000033 +MONDO:0958044 okamoto syndrome Orphanet:2729 MONDO:equivalentTo Okamoto syndrome A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe developmental delay and intellectual disability, generalized hypotonia, growth failure, hydronephrosis, cardiac anomalies, and dysmorphic craniofacial features (such as microcephaly, hypertrichosis, synophrys, long eyelashes, epicanthus, flat nasal bridge, short, upturned nose, long philtrum, low-set ears, open-mouth appearance, full lower lip, cleft palate, and webbed neck). Thin corpus callosum, tethered spinal cord, intestinal malrotation, anal stenosis, and uterus didelphys have also been reported. MONDO:0015159|MONDO:8000032|MONDO:8000034|MONDO:0035863 +MONDO:0958045 unclassified autoinflammatory syndrome of childhood Orphanet:324953 MONDO:equivalentTo Unclassified autoinflammatory syndrome of childhood MONDO:8000033|MONDO:0957018 +MONDO:0958046 unexplained periodic fever syndrome of childhood Orphanet:324960 MONDO:equivalentTo Unexplained periodic fever syndrome of childhood MONDO:8000033|MONDO:0957403 +MONDO:0958047 genetic 46,xy difference of sex development of endocrine origin Orphanet:325713 MONDO:equivalentTo Genetic 46,XY difference of sex development of endocrine origin MONDO:8000033|MONDO:0957025 +MONDO:0958048 immunoglobulin a nephropathy Orphanet:34145 MONDO:equivalentTo Immunoglobulin A nephropathy MONDO:0000001|MONDO:0019722|MONDO:8000034 +MONDO:0958049 rare disorder with corneal involvement as a major feature Orphanet:519288 MONDO:equivalentTo Rare disorder with corneal involvement as a major feature MONDO:8000033 +MONDO:0958050 rare disorder with pigmented sclera Orphanet:519296 MONDO:equivalentTo Rare disorder with pigmented sclera MONDO:8000033|MONDO:0035037 +MONDO:0958051 rare macular disorder Orphanet:519313 MONDO:equivalentTo Rare macular disorder MONDO:8000033 +MONDO:0958052 rare retinal vasculopathy Orphanet:519317 MONDO:equivalentTo Rare retinal vasculopathy MONDO:8000033 +MONDO:0958053 syndromic chorioretinal dystrophy Orphanet:519321 MONDO:equivalentTo Syndromic chorioretinal dystrophy MONDO:8000033 +MONDO:0958054 rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature Orphanet:522506 MONDO:equivalentTo Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature MONDO:8000033|MONDO:0957003 +MONDO:0958055 rare genetic ophthalmic disorder with cortical involvement Orphanet:522508 MONDO:equivalentTo Rare genetic ophthalmic disorder with cortical involvement MONDO:8000033|MONDO:0957003 +MONDO:0958056 rare genetic ophthalmic disorder with cranial nerve involvement Orphanet:522510 MONDO:equivalentTo Rare genetic ophthalmic disorder with cranial nerve involvement MONDO:8000033|MONDO:0957003 +MONDO:0958057 rare genetic ocular motility/alignment disorder Orphanet:522516 MONDO:equivalentTo Rare genetic ocular motility/alignment disorder MONDO:8000033|MONDO:0957003 +MONDO:0958058 rare genetic palpebral disorder Orphanet:522526 MONDO:equivalentTo Rare genetic palpebral disorder MONDO:8000033|MONDO:0026186 +MONDO:0958059 rare genetic disorder of the lacrimal apparatus Orphanet:522532 MONDO:equivalentTo Rare genetic disorder of the lacrimal apparatus MONDO:8000033 +MONDO:0958060 rare genetic disorder with lens opacification Orphanet:522546 MONDO:equivalentTo Rare genetic disorder with lens opacification MONDO:8000033 +MONDO:0958061 lens size anomaly of genetic origin Orphanet:522550 MONDO:equivalentTo Lens size anomaly of genetic origin MONDO:8000033|MONDO:0026186 +MONDO:0958062 lens position anomaly of genetic origin Orphanet:522552 MONDO:equivalentTo Lens position anomaly of genetic origin MONDO:8000033|MONDO:0026186 +MONDO:0958063 rare genetic disorder with corneal involvement as a major feature Orphanet:522558 MONDO:equivalentTo Rare genetic disorder with corneal involvement as a major feature MONDO:8000033 +MONDO:0958064 rare genetic macular disorder Orphanet:522574 MONDO:equivalentTo Rare genetic macular disorder MONDO:8000033 +MONDO:0958065 rare genetic retinal vasculopathy Orphanet:522576 MONDO:equivalentTo Rare genetic retinal vasculopathy MONDO:8000033 +MONDO:0958066 progressive myoclonic epilepsy with neuroserpin inclusion bodies Orphanet:530298 MONDO:equivalentTo Progressive myoclonic epilepsy with neuroserpin inclusion bodies MONDO:0011412|MONDO:8000031 +MONDO:0958067 rare disorder due to unbalanced inter-twin blood transfusion Orphanet:617310 MONDO:equivalentTo Rare disorder due to unbalanced inter-twin blood transfusion MONDO:8000033 +MONDO:0958068 rare disorder due to inadequate sharing of the placenta Orphanet:617313 MONDO:equivalentTo Rare disorder due to inadequate sharing of the placenta MONDO:8000033 +MONDO:0958069 rare hereditary autoinflammatory disease Orphanet:619238 MONDO:equivalentTo Rare hereditary autoinflammatory disease MONDO:8000033|MONDO:0028795 +MONDO:0958070 imprinting disorders Orphanet:641343 MONDO:equivalentTo Imprinting disorders MONDO:0021198|MONDO:8000033 +MONDO:0958071 hao-fountain syndrome due to usp7 mutation Orphanet:643538 MONDO:equivalentTo Hao-Fountain syndrome due to USP7 mutation MONDO:0014805|MONDO:8000031 +MONDO:0958072 closed spinal dysraphism Orphanet:645202 MONDO:equivalentTo Closed spinal dysraphism A rare group of spinal dysraphisms, also referred to as spina bifida occulta, with a high variability in terms of severity,characterized by the absence of exposed neural tissue. The skin overlying the abnormality remains intact although the skin itself may be abnormal with features such as hairy patch of skin, crater or haemangioma. These skin features are known as the cutaneous stigmata of spinal dysraphism. MONDO:0019351|MONDO:8000033 +MONDO:0958073 open spinal dysraphism with a posterior meningocele Orphanet:645270 MONDO:equivalentTo Open spinal dysraphism with a posterior meningocele A rare dysraphism characterized by absence of skin covering, the neural elements are exposed to the external environment and there is herniation of a cerebrospinal fluid filled sac through a posterior spina bifida. It is typically located in the lumbosacral region. Evidence of complete or partial Chiari II malformation is present. MONDO:8000033|MONDO:0017069|MONDO:0017062 +MONDO:0958074 anomaly of the filum Orphanet:645282 MONDO:equivalentTo Anomaly of the filum A rare group of dysraphic abnormality characterized by anatomical anomaly of the filum. The filum lacks its normal characteristics (thin, loose extension of the pia mater under the termination of the spinal cord). MONDO:8000033|MONDO:0017059 +MONDO:0958075 intramedullary non-dysraphic spinal cord lipoma Orphanet:645359 MONDO:equivalentTo Intramedullary non-dysraphic spinal cord lipoma A very rare non-dysraphic spinal cord lipoma characterized by being located within the spinal cord. There is no defect in the overlying dura. MONDO:0001790|MONDO:8000034|MONDO:8000030 +MONDO:0958076 myeloschisis Orphanet:645398 MONDO:equivalentTo Myeloschisis A rare form of spina bifida/open neural tube defect (NTD) chacterized by absence of a cystic component, dysplastic meninges and neural placode exposed through a defect in the posterior vertebral arches (spina bifida) that are contiguous with surrounding skin. The placode is at or below the skin plane and is typically associated with a Chiari II malformation. It is usually isolated or rarely associated with split cord malformation. MONDO:8000034|MONDO:8000030|MONDO:0017062 +MONDO:0958077 collagen vi-related congenital muscular dystrophy Orphanet:646098 MONDO:equivalentTo Collagen VI-related congenital muscular dystrophy MONDO:8000033|MONDO:0019950 +MONDO:0958078 mandibuloacral dysplasia associated to mtx2 Orphanet:647667 MONDO:equivalentTo Mandibuloacral dysplasia associated to MTX2 MONDO:0019707|MONDO:8000032|MONDO:0031689|MONDO:0015333|MONDO:8000034 +MONDO:0958079 adrenal cushing syndrome Orphanet:647758 MONDO:equivalentTo Adrenal Cushing syndrome MONDO:0957431|MONDO:8000033 +MONDO:0958080 rare adrenocortical nodular disease with cushing syndrome as a major feature Orphanet:647768 MONDO:equivalentTo Rare adrenocortical nodular disease with Cushing syndrome as a major feature MONDO:8000033|MONDO:0017820 +MONDO:0958081 keratoendotheliitis fugax hereditaria Orphanet:647815 MONDO:equivalentTo Keratoendotheliitis fugax hereditaria MONDO:8000034|MONDO:0000001|MONDO:0016168 +MONDO:0958082 slc40a1-related hemochromatosis Orphanet:647834 MONDO:equivalentTo SLC40A1-related hemochromatosis A form of rare hemochromatosis (HC) characterized by increased transferrin saturation and hepatocellular iron deposition with distribution patterns and clinical features indistinguishable from patients with other types of HC. MONDO:8000034|MONDO:0000001 +MONDO:0958083 conjoined twins Orphanet:647916 MONDO:equivalentTo Conjoined twins MONDO:0019755|MONDO:8000032|MONDO:8000034 +MONDO:0958084 rare scleritis Orphanet:648559 MONDO:equivalentTo Rare scleritis MONDO:8000033 +MONDO:0958085 digenic hemochromatosis Orphanet:648581 MONDO:equivalentTo Digenic hemochromatosis A rare subtype of hemochromatosis characterized by the combination of pathogenic variants in two genes involved in iron metabolism (usually a combination of HFE and non-HFE mutations), where the classical HFE-related hemochromatosis is not enough to fully explain the clinical picture of the patient. MONDO:8000034|MONDO:0016363|MONDO:0000001 +MONDO:0958086 bronchial malformation Orphanet:649014 MONDO:equivalentTo Bronchial malformation MONDO:8000033|MONDO:0015930|MONDO:0015221 +MONDO:0958087 rare adrenocortical nodular disease Orphanet:649017 MONDO:equivalentTo Rare adrenocortical nodular disease MONDO:8000033|MONDO:0021227 +MONDO:0958088 rare central precocious puberty Orphanet:650063 MONDO:equivalentTo Rare central precocious puberty MONDO:0000088|MONDO:8000033 +MONDO:0958089 genetic central precocious puberty Orphanet:650182 MONDO:equivalentTo Genetic central precocious puberty MONDO:8000033|MONDO:0033329 +MONDO:0958090 rare peripheral precocious puberty in female Orphanet:650187 MONDO:equivalentTo Rare peripheral precocious puberty in female MONDO:8000033|MONDO:0018561 +MONDO:0958091 cleft palate-congenital heart defect-intellectual disability syndrome Orphanet:652519 MONDO:equivalentTo Cleft palate-congenital heart defect-intellectual disability syndrome MONDO:0035863|MONDO:8000034|MONDO:0000001|MONDO:0015159 +MONDO:0958092 periodic fever-immunodeficiency-thrombocytopenia syndrome Orphanet:652522 MONDO:equivalentTo Periodic fever-immunodeficiency-thrombocytopenia syndrome MONDO:0018795|MONDO:8000034|MONDO:0000001|MONDO:0017953|MONDO:0017369 +MONDO:0958093 non-syndromic supernumerary kidneys Orphanet:652528 MONDO:equivalentTo Non-syndromic supernumerary kidneys MONDO:0019720|MONDO:8000034|MONDO:8000030 +MONDO:0958094 adult-onset progressive leukoencephalopathy-early-onset deafness Orphanet:652532 MONDO:equivalentTo Adult-onset progressive leukoencephalopathy-early-onset deafness A rare genetic neurological disorder characterized by congenital or early-onset sensorineural deafness and adult-onset progressive leukoencephalopathy. Progressive cognitive impairment and behavioral abnormalities are observed in the second or third decade of life, sometimes preceded by mild developmental delay and learning difficulties. Visual impairment in adult age has been reported. No central nervous system calcification is reported. MONDO:8000034|MONDO:0019046|MONDO:0000001|MONDO:0019589 +MONDO:0958095 nodal t-follicular helper cell lymphoma, follicular type Orphanet:652650 MONDO:equivalentTo Nodal T-follicular helper cell lymphoma, follicular type MONDO:0015760|MONDO:8000034|MONDO:0000001 +MONDO:0958096 monomorphic epitheliotropic intestinal t-cell lymphoma Orphanet:652658 MONDO:equivalentTo Monomorphic epitheliotropic intestinal T-cell lymphoma MONDO:8000034|MONDO:0018505|MONDO:0015760|MONDO:0000001 +MONDO:0958097 primary superior vena cava aneurysm Orphanet:652668 MONDO:equivalentTo Primary superior vena cava aneurysm MONDO:0019829|MONDO:8000034|MONDO:8000032 +MONDO:0958098 primary inferior vena cava aneurysm Orphanet:652678 MONDO:equivalentTo Primary inferior vena cava aneurysm MONDO:0019830|MONDO:8000034|MONDO:8000030 +MONDO:0958099 idiopathic subglottic stenosis Orphanet:652681 MONDO:equivalentTo Idiopathic subglottic stenosis MONDO:0020017|MONDO:8000034|MONDO:0000001 +MONDO:0958100 autoinflammatory syndrome with acne and/or hidradenitis suppurativa Orphanet:653434 MONDO:equivalentTo Autoinflammatory syndrome with acne and/or hidradenitis suppurativa MONDO:8000033|MONDO:0017954|MONDO:0017370 +MONDO:0958101 lymphocytic mastitis Orphanet:653698 MONDO:equivalentTo Lymphocytic mastitis MONDO:8000034|MONDO:0000001|MONDO:0015858 +MONDO:0958102 cone rod dystrophy-short stature syndrome Orphanet:653709 MONDO:equivalentTo Cone rod dystrophy-short stature syndrome MONDO:8000034|MONDO:0000001 +MONDO:0958103 chd4-related neurodevelopmental disorder Orphanet:653712 MONDO:equivalentTo CHD4-related neurodevelopmental disorder MONDO:0000001|MONDO:0035863|MONDO:8000034|MONDO:0015159 +MONDO:0958104 digenic alport syndrome Orphanet:653722 MONDO:equivalentTo Digenic Alport syndrome MONDO:8000031|MONDO:0018965 +MONDO:0958105 autosomal recessive limb-girdle muscular dystrophy, type 28 Orphanet:653725 MONDO:equivalentTo Autosomal recessive limb-girdle muscular dystrophy, type 28 MONDO:8000034|MONDO:0000001|MONDO:0015152 +MONDO:0958106 congenital insensitivity to pain syndrome, marsili type Orphanet:653728 MONDO:equivalentTo Congenital insensitivity to pain syndrome, Marsili type MONDO:8000034|MONDO:0000001|MONDO:0015366|MONDO:0015365 +MONDO:0958107 x-linked combined immunodeficiency due to sash3 deficiency Orphanet:653751 MONDO:equivalentTo X-linked combined immunodeficiency due to SASH3 deficiency MONDO:0018814|MONDO:0000001|MONDO:8000034 +MONDO:0958108 jansen-de vries syndrome Orphanet:653767 MONDO:equivalentTo Jansen-de Vries syndrome MONDO:0000001|MONDO:8000034|MONDO:0035863|MONDO:0015159 +MONDO:0958109 mitochondrial short-chain enoyl-coa hydratase 1 deficiency Orphanet:653880 MONDO:equivalentTo Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency MONDO:8000034|MONDO:0000001|MONDO:0019213 +MONDO:0958110 atrophic papulosis Orphanet:656071 MONDO:equivalentTo Atrophic papulosis MONDO:0015948|MONDO:0000001|MONDO:0019293|MONDO:8000034 +MONDO:0958111 pbx1-related congenital anomalies of kidney and urinary tract syndrome Orphanet:656130 MONDO:equivalentTo PBX1-related congenital anomalies of kidney and urinary tract syndrome MONDO:0000001|MONDO:0035863|MONDO:0019721|MONDO:0015159|MONDO:8000034|MONDO:0019589 +MONDO:0958112 intellectual disability-cupped ears syndrome Orphanet:656135 MONDO:equivalentTo Intellectual disability-cupped ears syndrome MONDO:0000001|MONDO:0035863|MONDO:8000034|MONDO:0015159 +MONDO:0958113 hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome Orphanet:656273 MONDO:equivalentTo Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome MONDO:8000034|MONDO:0035862|MONDO:0015510|MONDO:0032013|MONDO:0015118|MONDO:0018497|MONDO:0018557 +MONDO:0958114 1p36.33 duplication syndrome Orphanet:656279 MONDO:equivalentTo 1p36.33 duplication syndrome MONDO:0000001|MONDO:8000034|MONDO:0016327|MONDO:0016803|MONDO:0019058|MONDO:0017012 +MONDO:0958115 autosomal recessive combined immunodeficiency due to complete il6st deficiency Orphanet:656283 MONDO:equivalentTo Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency MONDO:0019698|MONDO:0018037|MONDO:8000034|MONDO:0000001 +MONDO:0958116 autosomal recessive combined immunodeficiency due to partial il6st deficiency Orphanet:656300 MONDO:equivalentTo Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency MONDO:8000034|MONDO:0018037|MONDO:0000001|MONDO:0026166|MONDO:0019305 +MONDO:0958117 autosomal dominant combined immunodeficiency due to partial il6st deficiency Orphanet:656313 MONDO:equivalentTo Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency MONDO:0018037|MONDO:0000001|MONDO:8000034 +MONDO:0958118 autosomal recessive combined immunodeficiency due to il6r deficiency Orphanet:656326 MONDO:equivalentTo Autosomal recessive combined immunodeficiency due to IL6R deficiency MONDO:8000034|MONDO:0026166|MONDO:0019305|MONDO:0000001|MONDO:0018037 +MONDO:0958119 embryonal tumor with multilayered rosettes Orphanet:656417 MONDO:equivalentTo Embryonal tumor with multilayered rosettes MONDO:8000034|MONDO:0000001|MONDO:0016713 +MONDO:0958120 autosomal dominant combined immunodeficiency due to erbin deficiency Orphanet:656912 MONDO:equivalentTo Autosomal dominant combined immunodeficiency due to ERBIN deficiency MONDO:8000034|MONDO:0026166|MONDO:0018037|MONDO:0000001|MONDO:0019305 +MONDO:0958121 16q22 deletion syndrome Orphanet:658540 MONDO:equivalentTo 16q22 deletion syndrome MONDO:0035863|MONDO:8000034|MONDO:0000001|MONDO:0016914|MONDO:0015159 +MONDO:0958122 idiopathic small fibers neuropathy Orphanet:658549 MONDO:equivalentTo Idiopathic small fibers neuropathy MONDO:8000034|MONDO:0000001|MONDO:0015923 +MONDO:0958123 isolated pulmonary artery sling Orphanet:658574 MONDO:equivalentTo Isolated pulmonary artery sling MONDO:8000034|MONDO:0015239|MONDO:8000030 +MONDO:0958124 rowell syndrome Orphanet:658584 MONDO:equivalentTo Rowell syndrome MONDO:8000034|MONDO:0000001|MONDO:0017841|MONDO:0015940 +MONDO:0958125 eyelid sebaceous carcinoma Orphanet:658590 MONDO:equivalentTo Eyelid sebaceous carcinoma MONDO:8000034|MONDO:0000001|MONDO:0015121 +MONDO:0958126 dnmt3a-related microcephalic dwarfism Orphanet:658595 MONDO:equivalentTo DNMT3A-related microcephalic dwarfism MONDO:8000034|MONDO:8000032|MONDO:0017950 +MONDO:0958127 transplant-related bronchiolitis obliterans Orphanet:658602 MONDO:equivalentTo Transplant-related bronchiolitis obliterans MONDO:8000034|MONDO:0000001|MONDO:0015265 +MONDO:0958128 non-transplant-related bronchiolitis obliterans Orphanet:658612 MONDO:equivalentTo Non-transplant-related bronchiolitis obliterans MONDO:8000034|MONDO:0000001|MONDO:0015265 +MONDO:0958129 coq7-related distal hereditary motor neuropathy Orphanet:658778 MONDO:equivalentTo COQ7-related distal hereditary motor neuropathy MONDO:8000034|MONDO:0000001|MONDO:0018151|MONDO:0015363 +MONDO:0958130 greig cephalopolysyndactyly-contiguous gene syndrome Orphanet:658805 MONDO:equivalentTo Greig cephalopolysyndactyly-contiguous gene syndrome MONDO:0015161|MONDO:0017434|MONDO:0000001|MONDO:0016889|MONDO:8000034|MONDO:0043008|MONDO:0005308 +MONDO:0958131 atrophoderma of pasini and pierini Orphanet:658810 MONDO:equivalentTo Atrophoderma of Pasini and Pierini MONDO:0021154|MONDO:8000034|MONDO:0000001 +MONDO:0958132 methylenetetrahydrofolate dehydrogenase 1 deficiency Orphanet:658813 MONDO:equivalentTo Methylenetetrahydrofolate dehydrogenase 1 deficiency MONDO:0020111|MONDO:8000034|MONDO:0000001|MONDO:0017313 +MONDO:0958133 developmental delay-ataxia-hypotonia-facial dysmorphism syndrome Orphanet:658843 MONDO:equivalentTo Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome MONDO:0035863|MONDO:8000034|MONDO:0000001|MONDO:0015159 +MONDO:0958134 fasciolopsiasis Orphanet:658909 MONDO:equivalentTo Fasciolopsiasis MONDO:8000034|MONDO:0000001|MONDO:0015675 +MONDO:0958135 paragonimiasis Orphanet:658913 MONDO:equivalentTo Paragonimiasis MONDO:8000034|MONDO:0000001|MONDO:0015675 +MONDO:0958136 clonorchiasis Orphanet:658917 MONDO:equivalentTo Clonorchiasis MONDO:8000034|MONDO:0000001|MONDO:0015675 +MONDO:0958137 early-onset autoimmune disorder due to dock11 partial deficiency Orphanet:658946 MONDO:equivalentTo Early-onset autoimmune disorder due to DOCK11 partial deficiency MONDO:0026166|MONDO:8000034|MONDO:0015709|MONDO:0000001|MONDO:0017956|MONDO:0019305 +MONDO:0958138 early-onset immune dysregulation due to dock11 complete deficiency Orphanet:658951 MONDO:equivalentTo Early-onset immune dysregulation due to DOCK11 complete deficiency MONDO:0015710|MONDO:8000034|MONDO:0015940|MONDO:0000001|MONDO:0028795