diff --git a/docs/metrics/doid.md b/docs/metrics/doid.md index 04ffccb2..530eab3e 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/2024-04-19/doid.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-05-01/doid.owl ### Entities and axioms | Metric | Value | | ------ | ----- | | Annotation properties | 27 | -| Axioms | 115826 | -| Logical axioms | 16084 | -| Classes | 13084 | +| Axioms | 115964 | +| Logical axioms | 16110 | +| Classes | 13099 | | Object properties | 2 | | Data properties | 0 | | Individuals | 0 | @@ -32,11 +32,11 @@ | Metric | Value | | ------ | ----- | -| AnnotationAssertion | 86629 | +| AnnotationAssertion | 86726 | | SubAnnotationPropertyOf | 1 | | DisjointClasses | 26 | -| Declaration | 13112 | -| SubClassOf | 16058 | +| Declaration | 13127 | +| SubClassOf | 16084 | #### Entity namespaces: axiom counts by namespace @@ -45,10 +45,10 @@ | ------ | ----- | | oboInOwl | 12 | | owl | 2 | -| DOID | 11539 | +| DOID | 11552 | | HP | 118 | | xsd | 1 | -| CL | 61 | +| CL | 63 | | skos | 5 | | BFO | 2 | | rdfs | 2 | @@ -71,7 +71,7 @@ | Metric | Value | | ------ | ----- | -| Class | 45412 | +| Class | 45479 | 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 837010c4..742b0cd7 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/2024-04-19/gard.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-05-01/gard.owl ### Entities and axioms diff --git a/docs/metrics/icd10cm.md b/docs/metrics/icd10cm.md index 41a74b7a..0b66702c 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/2024-04-19/icd10cm.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-05-01/icd10cm.owl ### Entities and axioms diff --git a/docs/metrics/icd10who.md b/docs/metrics/icd10who.md index 574392c1..025d1a55 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/2024-04-19/icd10who.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-05-01/icd10who.owl ### Entities and axioms diff --git a/docs/metrics/icd11foundation.md b/docs/metrics/icd11foundation.md index 700674ef..d2a3015e 100644 --- a/docs/metrics/icd11foundation.md +++ b/docs/metrics/icd11foundation.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/icd11foundation.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-04-19/icd11foundation.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-05-01/icd11foundation.owl ### Entities and axioms diff --git a/docs/metrics/ncit.md b/docs/metrics/ncit.md index 37c4fd9e..07efb5b0 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/2024-04-19/ncit.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-05-01/ncit.owl ### Entities and axioms diff --git a/docs/metrics/omim.md b/docs/metrics/omim.md index 7f981015..e1989f2b 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/2024-04-19/omim.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-05-01/omim.owl ### Entities and axioms | Metric | Value | | ------ | ----- | | Annotation properties | 18 | -| Axioms | 345408 | -| Logical axioms | 22664 | -| Classes | 19465 | +| Axioms | 345588 | +| Logical axioms | 22689 | +| Classes | 19482 | | Object properties | 7 | | Data properties | 0 | | Individuals | 0 | @@ -32,23 +32,23 @@ | Metric | Value | | ------ | ----- | -| AnnotationAssertion | 303257 | +| AnnotationAssertion | 303395 | | SubAnnotationPropertyOf | 1 | -| Declaration | 19486 | -| SubClassOf | 22664 | +| Declaration | 19503 | +| SubClassOf | 22689 | #### Entity namespaces: axiom counts by namespace | Metric | Value | | ------ | ----- | -| prefix_unknown | 18022 | +| prefix_unknown | 18036 | | oboInOwl | 4 | | owl | 2 | | xsd | 1 | | skos | 1 | | rdfs | 2 | -| CHR | 1446 | +| CHR | 1449 | | MONDO | 1 | | rdf | 1 | | IAO | 2 | @@ -61,8 +61,8 @@ | Metric | Value | | ------ | ----- | -| Class | 64785 | -| ObjectSomeValuesFrom | 17773 | +| Class | 64850 | +| ObjectSomeValuesFrom | 17792 | 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 eacf763a..a8db0331 100644 --- a/docs/metrics/ordo.md +++ b/docs/metrics/ordo.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/ordo.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-04-19/ordo.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-05-01/ordo.owl ### Entities and axioms diff --git a/docs/reports/mapped_deprecated.md b/docs/reports/mapped_deprecated.md index cfbee14e..61c5a7e4 100644 --- a/docs/reports/mapped_deprecated.md +++ b/docs/reports/mapped_deprecated.md @@ -1,8 +1,8 @@ # Mapped deprecated terms | Ontology | Tot deprecated in Mondo | |:----------------------------------------------------------|--------------------------:| -| [OMIM](./mapped_deprecated_omim.md) | 46 | -| [DOID](./mapped_deprecated_doid.md) | 4 | +| [DOID](./mapped_deprecated_doid.md) | 5 | +| [OMIM](./mapped_deprecated_omim.md) | 45 | | [ORDO](./mapped_deprecated_ordo.md) | 225 | | [NCIT](./mapped_deprecated_ncit.md) | 12 | | [GARD](./mapped_deprecated_gard.md) | 0 | diff --git a/docs/reports/mapped_deprecated_doid.md b/docs/reports/mapped_deprecated_doid.md index 6a42266f..2dcc2a84 100644 --- a/docs/reports/mapped_deprecated_doid.md +++ b/docs/reports/mapped_deprecated_doid.md @@ -5,6 +5,7 @@ | mondo_id | source_id | source | |:--------------|:---------------------|:-------------------------| | ID | A oboInOwl:hasDbXref | >A oboInOwl:source | +| MONDO:0001639 | DOID:13121 | MONDO:equivalentObsolete | | MONDO:0008024 | DOID:0111201 | MONDO:equivalentObsolete | | MONDO:0008025 | DOID:0111208 | MONDO:equivalentObsolete | | MONDO:0013127 | DOID:0050549 | MONDO:equivalentObsolete | diff --git a/docs/reports/mapped_deprecated_omim.md b/docs/reports/mapped_deprecated_omim.md index 16073be5..b4ba95cb 100644 --- a/docs/reports/mapped_deprecated_omim.md +++ b/docs/reports/mapped_deprecated_omim.md @@ -25,7 +25,6 @@ | MONDO:0010357 | OMIM:300551 | MONDO:equivalentObsolete | | MONDO:0010387 | OMIM:300640 | MONDO:equivalentObsolete | | MONDO:0010394 | OMIM:300660 | MONDO:equivalentObsolete | -| MONDO:0010425 | OMIM:300778 | MONDO:equivalentObsolete | | MONDO:0010470 | OMIM:300881 | MONDO:equivalentObsolete | | MONDO:0010527 | OMIM:301590 | MONDO:equivalentObsolete | | MONDO:0010601 | OMIM:306500 | MONDO:equivalentObsolete | diff --git a/docs/reports/migrate.md b/docs/reports/migrate.md index 6e9ff690..4de05957 100644 --- a/docs/reports/migrate.md +++ b/docs/reports/migrate.md @@ -2,12 +2,12 @@ | Ontology | Tot | |:------------------------------------------------|:-------| | [GARD](./migrate_gard.md) | 9,370 | -| [DOID](./migrate_doid.md) | 42 | -| [ORDO](./migrate_ordo.md) | 26 | -| [OMIM](./migrate_omim.md) | 24 | +| [DOID](./migrate_doid.md) | 56 | | [NCIT](./migrate_ncit.md) | 2,176 | | [ICD10WHO](./migrate_icd10who.md) | 119 | +| [ORDO](./migrate_ordo.md) | 11 | | [ICD11FOUNDATION](./migrate_icd11foundation.md) | 10,581 | +| [OMIM](./migrate_omim.md) | 10 | | [ICD10CM](./migrate_icd10cm.md) | 1,889 | ### Codebook diff --git a/docs/reports/migrate_doid.md b/docs/reports/migrate_doid.md index 7ff664f7..692e602f 100644 --- a/docs/reports/migrate_doid.md +++ b/docs/reports/migrate_doid.md @@ -2,48 +2,62 @@ [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:0958281 | mitochondrial complex v (atp synthase) deficiency nuclear type 4 | DOID:0060333 | MONDO:equivalentTo | mitochondrial complex V (ATP synthase) deficiency nuclear type 4 | | MONDO:0014471 | -| MONDO:0958282 | dystonia 28 childhood-onset | DOID:0060936 | MONDO:equivalentTo | dystonia 28 childhood-onset | | MONDO:0003441|MONDO:0000426 | -| MONDO:0958283 | dystonia 30 | DOID:0060937 | MONDO:equivalentTo | dystonia 30 | | MONDO:0003441|MONDO:0000426 | -| MONDO:0958284 | dystonia 31 | DOID:0060938 | MONDO:equivalentTo | dystonia 31 | | MONDO:0003441|MONDO:0006025 | -| MONDO:0958285 | dystonia 32 | DOID:0060939 | MONDO:equivalentTo | dystonia 32 | | MONDO:0003441|MONDO:0006025 | -| MONDO:0958286 | dystonia 33 | DOID:0060940 | MONDO:equivalentTo | dystonia 33 | | MONDO:0003441|MONDO:0000426 | -| MONDO:0958287 | episodic kinesigenic dyskinesia 3 | DOID:0060944 | MONDO:equivalentTo | episodic kinesigenic dyskinesia 3 | | MONDO:0003441|MONDO:0000426 | -| MONDO:0958288 | dystonia 35, childhood-onset | DOID:0060955 | MONDO:equivalentTo | dystonia 35, childhood-onset | | MONDO:0003441|MONDO:0006025 | -| MONDO:0958289 | dystonia 37, early-onset with striatal lesions | DOID:0060956 | MONDO:equivalentTo | dystonia 37, early-onset with striatal lesions | | MONDO:0003441|MONDO:0006025 | -| MONDO:0958290 | myoclonic dystonia 34 | DOID:0060957 | MONDO:equivalentTo | myoclonic dystonia 34 | | MONDO:0003441|MONDO:0000426 | -| MONDO:0958291 | dystonia, dopa-responsive | DOID:0060963 | MONDO:equivalentTo | dystonia, DOPA-responsive | | MONDO:0003441|MONDO:0000426 | -| MONDO:0958292 | dystonia 22, juvenile-onset | DOID:0060966 | MONDO:equivalentTo | dystonia 22, juvenile-onset | | MONDO:0003441|MONDO:0006025 | -| MONDO:0958293 | dystonia 22, adult-onset | DOID:0060967 | MONDO:equivalentTo | dystonia 22, adult-onset | | MONDO:0003441|MONDO:0006025 | -| MONDO:0958294 | halperin-birk syndrome | DOID:0070539 | MONDO:equivalentTo | Halperin-Birk syndrome | | MONDO:0006025|MONDO:0002254 | -| MONDO:0958295 | bcor itd sarcoma | DOID:0081403 | MONDO:equivalentTo | BCOR ITD sarcoma | A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR internal tandem duplication. | MONDO:0958159 | -| MONDO:0958296 | bcor-ccnb3 sarcoma | DOID:0081404 | MONDO:equivalentTo | BCOR-CCNB3 sarcoma | A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR-CCNB3 fusion gene. | MONDO:0958159 | -| MONDO:0958297 | childhood sarcoma with bcor genetic alterations | DOID:0081405 | MONDO:equivalentTo | childhood sarcoma with BCOR genetic alterations | A sarcoma with BCOR genetic alterations that occurs during childhood. | MONDO:0958159 | -| MONDO:0958298 | childhood round cell sarcoma with ewsr1-non-ets fusion | DOID:0081407 | MONDO:equivalentTo | childhood round cell sarcoma with EWSR1-non-ETS fusion | A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by EWSR1-non-ETS fusion that occurs during childhood. | MONDO:0958160 | -| MONDO:0958299 | round cell sarcoma with ewsr1-nfatc2 gene fusion | DOID:0081408 | MONDO:equivalentTo | round cell sarcoma with EWSR1-NFATC2 gene fusion | A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-NFATC2 gene fusion. | MONDO:0958160 | -| MONDO:0958300 | round cell sarcoma with ewsr1-patz1 gene fusion | DOID:0081409 | MONDO:equivalentTo | round cell sarcoma with EWSR1-PATZ1 gene fusion | A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-PATZ1 gene fusion. | MONDO:0958160 | -| MONDO:0958301 | round cell sarcoma with fus-nfatc2 gene fusion | DOID:0081410 | MONDO:equivalentTo | round cell sarcoma with FUS-NFATC2 gene fusion | A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of FUS-NFATC2 gene fusion. | MONDO:0958160 | -| MONDO:0958302 | tfeb-rearranged renal cell carcinoma | DOID:0081414 | MONDO:equivalentTo | TFEB-rearranged renal cell carcinoma | A renal cell carcinoma with MiT translocations that is characterized by the presence of the chromosomal translocation t(6;11) which fuses the TFEB transcription factor gene, located on chromosome 6, with the MALAT1 gene, located on chromosome 11. | MONDO:0017886 | -| MONDO:0958303 | childhood renal cell carcinoma with mit translocations | DOID:0081416 | MONDO:equivalentTo | childhood renal cell carcinoma with MiT translocations | A renal cell carcinoma with MiT translocations that is characterized by a TFE3 or TFEB-rearranged renal cell carcinoma that occurs during childhood. | MONDO:0017886 | -| MONDO:0958304 | microcephaly, short stature, and limb abnormalities | DOID:0081431 | MONDO:equivalentTo | microcephaly, short stature, and limb abnormalities | An osteochondrodysplasia that is characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray and that has_material_basis_in homozygous or compound heterozygous mutation in the DONSON gene on chromosome 21q22. Biallelic mutation in the DONSON gene can also cause microcephaly-micromelia syndrome, a more severe disorder that usually results in intrauterine or perinatal death. | MONDO:0005516|MONDO:0006025 | -| MONDO:0958305 | microcephaly-micromelia syndrome | DOID:0081432 | MONDO:equivalentTo | microcephaly-micromelia syndrome | A syndrome that is characterized by intrauterine growth retardation (IUGR), marked microcephaly, craniosynostosis, and severe malformation of the limbs, especially the arms and that has_material_basis_in homozygous mutation in the DONSON gene on chromosome 21q22. Biallelic mutation in the DONSON gene can also cause microcephaly, short stature, and limb abnormalities, a less severe disorder. | MONDO:0002254 | -| MONDO:0958306 | peroxisome biogenesis disorder 4b | DOID:0081433 | MONDO:equivalentTo | Peroxisome biogenesis disorder 4B | | MONDO:0019234|MONDO:0006025|MONDO:0000426 | -| MONDO:0958307 | peroxisome biogenesis disorder 5b | DOID:0081434 | MONDO:equivalentTo | Peroxisome biogenesis disorder 5B | | MONDO:0019234|MONDO:0006025 | -| MONDO:0958308 | peroxisome biogenesis disorder 6b | DOID:0081435 | MONDO:equivalentTo | Peroxisome biogenesis disorder 6B | | MONDO:0019234|MONDO:0006025 | -| MONDO:0958309 | peroxisome biogenesis disorder 7b | DOID:0081436 | MONDO:equivalentTo | Peroxisome biogenesis disorder 7B | | MONDO:0019234|MONDO:0006025 | -| MONDO:0958310 | peroxisome biogenesis disorder 8b | DOID:0081437 | MONDO:equivalentTo | Peroxisome biogenesis disorder 8B | | MONDO:0019234|MONDO:0006025 | -| MONDO:0958311 | peroxisome biogenesis disorder 9b | DOID:0081438 | MONDO:equivalentTo | Peroxisome biogenesis disorder 9B | | MONDO:0019234|MONDO:0006025 | -| MONDO:0958312 | peroxisome biogenesis disorder 11b | DOID:0081439 | MONDO:equivalentTo | Peroxisome biogenesis disorder 11B | | MONDO:0019234|MONDO:0006025 | -| MONDO:0958313 | peroxisome biogenesis disorder 10b | DOID:0081440 | MONDO:equivalentTo | Peroxisome biogenesis disorder 10B | | MONDO:0019234|MONDO:0006025 | -| MONDO:0958314 | nicolaides-baraitser syndrome | DOID:0081441 | MONDO:equivalentTo | Nicolaides-Baraitser syndrome | A syndrome that is characterized by severely impaired intellectual development, early-onset seizures, short stature, dysmorphic facial features, and sparse hair and that has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24. | MONDO:0000426|MONDO:0002254 | -| MONDO:0958315 | blepharophimosis-impaired intellectual development syndrome | DOID:0081442 | MONDO:equivalentTo | blepharophimosis-impaired intellectual development syndrome | A syndrome that is characterized by a distinct facial appearance with blepharophimosis and global development delay and that has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24. | MONDO:0002254|MONDO:0000426 | -| MONDO:0958316 | stolerman neurodevelopmental syndrome | DOID:0081443 | MONDO:equivalentTo | Stolerman neurodevelopmental syndrome | A syndrome that is characterized by developmental delay, often with motor and speech delay, mildly impaired intellectual development (in most patients), learning difficulties, and behavioral abnormalities, including autism spectrum disorder and that has_material_basis_in heterozygous mutation in the KDM6B gene on chromosome 17p13. | MONDO:0002254 | -| MONDO:0958317 | neurodevelopmental disorder with poor growth and behavioral abnormalities | DOID:0081444 | MONDO:equivalentTo | neurodevelopmental disorder with poor growth and behavioral abnormalities | An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, moderately to severely impaired intellectual development, often with absent speech, and behavioral abnormalities, including hyperactivity, short attention span, and ADHD and that has_material_basis_in homozygous or compound heterozygous mutation in the ATP9A gene on chromosome 20q13. | MONDO:0019502 | -| MONDO:0958318 | chronic inflammatory demyelinating polyneuritis | DOID:2536 | MONDO:equivalentTo | chronic inflammatory demyelinating polyneuritis | | MONDO:0002336 | -| MONDO:0958319 | congenital kyphosis | DOID:4668 | MONDO:equivalentTo | congenital kyphosis | | | -| MONDO:0958320 | postural kyphosis | DOID:9373 | MONDO:equivalentTo | postural kyphosis | | | -| MONDO:0958359 | childhood spinal muscular atrophy | DOID:0060160 | MONDO:equivalentTo | childhood spinal muscular atrophy | | MONDO:0001516 | -| MONDO:0958360 | cholesterol-ester transfer protein deficiency | DOID:0111368 | MONDO:equivalentTo | cholesterol-ester transfer protein deficiency | | MONDO:0002525 | \ 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:0958281 | mitochondrial complex v (atp synthase) deficiency nuclear type 4 | DOID:0060333 | MONDO:equivalentTo | mitochondrial complex V (ATP synthase) deficiency nuclear type 4 | | MONDO:0014471 | +| MONDO:0958282 | dystonia 28, childhood-onset | DOID:0060936 | MONDO:equivalentTo | dystonia 28, childhood-onset | | MONDO:0003441|MONDO:0000426 | +| MONDO:0958283 | dystonia 30 | DOID:0060937 | MONDO:equivalentTo | dystonia 30 | | MONDO:0003441|MONDO:0000426 | +| MONDO:0958284 | dystonia 31 | DOID:0060938 | MONDO:equivalentTo | dystonia 31 | | MONDO:0003441|MONDO:0006025 | +| MONDO:0958285 | dystonia 32 | DOID:0060939 | MONDO:equivalentTo | dystonia 32 | | MONDO:0003441|MONDO:0006025 | +| MONDO:0958286 | dystonia 33 | DOID:0060940 | MONDO:equivalentTo | dystonia 33 | | MONDO:0003441|MONDO:0006025|MONDO:0000426 | +| MONDO:0958287 | ullrich congenital muscular dystrophy 2 | DOID:0060944 | MONDO:equivalentTo | Ullrich congenital muscular dystrophy 2 | | MONDO:0000355 | +| MONDO:0958288 | dystonia 35, childhood-onset | DOID:0060955 | MONDO:equivalentTo | dystonia 35, childhood-onset | | MONDO:0003441|MONDO:0006025 | +| MONDO:0958289 | dystonia 37, early-onset with striatal lesions | DOID:0060956 | MONDO:equivalentTo | dystonia 37, early-onset with striatal lesions | | MONDO:0003441|MONDO:0006025 | +| MONDO:0958290 | myoclonic dystonia 34 | DOID:0060957 | MONDO:equivalentTo | myoclonic dystonia 34 | | MONDO:0003441|MONDO:0000426 | +| MONDO:0958291 | dystonia, dopa-responsive | DOID:0060963 | MONDO:equivalentTo | dystonia, DOPA-responsive | | MONDO:0006025|MONDO:0003441|MONDO:0000426 | +| MONDO:0958292 | dystonia 22, juvenile-onset | DOID:0060966 | MONDO:equivalentTo | dystonia 22, juvenile-onset | | MONDO:0003441|MONDO:0006025 | +| MONDO:0958293 | dystonia 22, adult-onset | DOID:0060967 | MONDO:equivalentTo | dystonia 22, adult-onset | | MONDO:0003441|MONDO:0006025 | +| MONDO:0958294 | halperin-birk syndrome | DOID:0070539 | MONDO:equivalentTo | Halperin-Birk syndrome | | MONDO:0006025|MONDO:0002254 | +| MONDO:0958295 | bcor itd sarcoma | DOID:0081403 | MONDO:equivalentTo | BCOR ITD sarcoma | A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR internal tandem duplication. | MONDO:0958159 | +| MONDO:0958296 | bcor-ccnb3 sarcoma | DOID:0081404 | MONDO:equivalentTo | BCOR-CCNB3 sarcoma | A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR-CCNB3 fusion gene. | MONDO:0958159 | +| MONDO:0958297 | childhood sarcoma with bcor genetic alterations | DOID:0081405 | MONDO:equivalentTo | childhood sarcoma with BCOR genetic alterations | A sarcoma with BCOR genetic alterations that occurs during childhood. | MONDO:0958159 | +| MONDO:0958298 | childhood round cell sarcoma with ewsr1-non-ets fusion | DOID:0081407 | MONDO:equivalentTo | childhood round cell sarcoma with EWSR1-non-ETS fusion | A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by EWSR1-non-ETS fusion that occurs during childhood. | MONDO:0958160 | +| MONDO:0958299 | round cell sarcoma with ewsr1-nfatc2 gene fusion | DOID:0081408 | MONDO:equivalentTo | round cell sarcoma with EWSR1-NFATC2 gene fusion | A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-NFATC2 gene fusion. | MONDO:0958160 | +| MONDO:0958300 | round cell sarcoma with ewsr1-patz1 gene fusion | DOID:0081409 | MONDO:equivalentTo | round cell sarcoma with EWSR1-PATZ1 gene fusion | A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-PATZ1 gene fusion. | MONDO:0958160 | +| MONDO:0958301 | round cell sarcoma with fus-nfatc2 gene fusion | DOID:0081410 | MONDO:equivalentTo | round cell sarcoma with FUS-NFATC2 gene fusion | A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of FUS-NFATC2 gene fusion. | MONDO:0958160 | +| MONDO:0958302 | tfeb-rearranged renal cell carcinoma | DOID:0081414 | MONDO:equivalentTo | TFEB-rearranged renal cell carcinoma | A renal cell carcinoma with MiT translocations that is characterized by the presence of the chromosomal translocation t(6;11) which fuses the TFEB transcription factor gene, located on chromosome 6, with the MALAT1 gene, located on chromosome 11. | MONDO:0017886 | +| MONDO:0958303 | childhood renal cell carcinoma with mit translocations | DOID:0081416 | MONDO:equivalentTo | childhood renal cell carcinoma with MiT translocations | A renal cell carcinoma with MiT translocations that is characterized by a TFE3 or TFEB-rearranged renal cell carcinoma that occurs during childhood. | MONDO:0017886 | +| MONDO:0958304 | microcephaly, short stature, and limb abnormalities | DOID:0081431 | MONDO:equivalentTo | microcephaly, short stature, and limb abnormalities | An osteochondrodysplasia that is characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray and that has_material_basis_in homozygous or compound heterozygous mutation in the DONSON gene on chromosome 21q22. Biallelic mutation in the DONSON gene can also cause microcephaly-micromelia syndrome, a more severe disorder that usually results in intrauterine or perinatal death. | MONDO:0005516|MONDO:0006025 | +| MONDO:0958305 | microcephaly-micromelia syndrome | DOID:0081432 | MONDO:equivalentTo | microcephaly-micromelia syndrome | A syndrome that is characterized by intrauterine growth retardation (IUGR), marked microcephaly, craniosynostosis, and severe malformation of the limbs, especially the arms and that has_material_basis_in homozygous mutation in the DONSON gene on chromosome 21q22. Biallelic mutation in the DONSON gene can also cause microcephaly, short stature, and limb abnormalities, a less severe disorder. | MONDO:0002254 | +| MONDO:0958306 | peroxisome biogenesis disorder 4b | DOID:0081433 | MONDO:equivalentTo | Peroxisome biogenesis disorder 4B | | MONDO:0019234|MONDO:0006025|MONDO:0000426 | +| MONDO:0958307 | peroxisome biogenesis disorder 5b | DOID:0081434 | MONDO:equivalentTo | Peroxisome biogenesis disorder 5B | | MONDO:0019234|MONDO:0006025 | +| MONDO:0958308 | peroxisome biogenesis disorder 6b | DOID:0081435 | MONDO:equivalentTo | Peroxisome biogenesis disorder 6B | | MONDO:0019234|MONDO:0006025 | +| MONDO:0958309 | peroxisome biogenesis disorder 7b | DOID:0081436 | MONDO:equivalentTo | Peroxisome biogenesis disorder 7B | | MONDO:0019234|MONDO:0006025 | +| MONDO:0958310 | peroxisome biogenesis disorder 8b | DOID:0081437 | MONDO:equivalentTo | Peroxisome biogenesis disorder 8B | | MONDO:0019234|MONDO:0006025 | +| MONDO:0958311 | peroxisome biogenesis disorder 9b | DOID:0081438 | MONDO:equivalentTo | Peroxisome biogenesis disorder 9B | | MONDO:0019234|MONDO:0006025 | +| MONDO:0958312 | peroxisome biogenesis disorder 11b | DOID:0081439 | MONDO:equivalentTo | Peroxisome biogenesis disorder 11B | | MONDO:0019234|MONDO:0006025 | +| MONDO:0958313 | peroxisome biogenesis disorder 10b | DOID:0081440 | MONDO:equivalentTo | Peroxisome biogenesis disorder 10B | | MONDO:0019234|MONDO:0006025 | +| MONDO:0958314 | nicolaides-baraitser syndrome | DOID:0081441 | MONDO:equivalentTo | Nicolaides-Baraitser syndrome | A syndrome that is characterized by severely impaired intellectual development, early-onset seizures, short stature, dysmorphic facial features, and sparse hair and that has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24. | MONDO:0000426|MONDO:0002254 | +| MONDO:0958315 | blepharophimosis-impaired intellectual development syndrome | DOID:0081442 | MONDO:equivalentTo | blepharophimosis-impaired intellectual development syndrome | A syndrome that is characterized by a distinct facial appearance with blepharophimosis and global development delay and that has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24. | MONDO:0002254|MONDO:0000426 | +| MONDO:0958316 | stolerman neurodevelopmental syndrome | DOID:0081443 | MONDO:equivalentTo | Stolerman neurodevelopmental syndrome | A syndrome that is characterized by developmental delay, often with motor and speech delay, mildly impaired intellectual development (in most patients), learning difficulties, and behavioral abnormalities, including autism spectrum disorder and that has_material_basis_in heterozygous mutation in the KDM6B gene on chromosome 17p13. | MONDO:0002254 | +| MONDO:0958317 | neurodevelopmental disorder with poor growth and behavioral abnormalities | DOID:0081444 | MONDO:equivalentTo | neurodevelopmental disorder with poor growth and behavioral abnormalities | An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, moderately to severely impaired intellectual development, often with absent speech, and behavioral abnormalities, including hyperactivity, short attention span, and ADHD and that has_material_basis_in homozygous or compound heterozygous mutation in the ATP9A gene on chromosome 20q13. | MONDO:0019502 | +| MONDO:0958318 | chronic inflammatory demyelinating polyneuritis | DOID:2536 | MONDO:equivalentTo | chronic inflammatory demyelinating polyneuritis | | MONDO:0002336 | +| MONDO:0958319 | congenital kyphosis | DOID:4668 | MONDO:equivalentTo | congenital kyphosis | | | +| MONDO:0958320 | postural kyphosis | DOID:9373 | MONDO:equivalentTo | postural kyphosis | | | +| MONDO:0958359 | childhood spinal muscular atrophy | DOID:0060160 | MONDO:equivalentTo | childhood spinal muscular atrophy | | MONDO:0001516 | +| MONDO:0958360 | cholesterol-ester transfer protein deficiency | DOID:0111368 | MONDO:equivalentTo | cholesterol-ester transfer protein deficiency | | MONDO:0002525 | +| MONDO:0968961 | interstitial lung disease 1 | DOID:0060941 | MONDO:equivalentTo | interstitial lung disease 1 | | MONDO:0000426|MONDO:0015925|MONDO:0006025 | +| MONDO:0968962 | ullrich congenital muscular dystrophy 1b | DOID:0060942 | MONDO:equivalentTo | Ullrich congenital muscular dystrophy 1B | | MONDO:0000355 | +| MONDO:0968963 | ullrich congenital muscular dystrophy 1c | DOID:0060943 | MONDO:equivalentTo | Ullrich congenital muscular dystrophy 1C | | MONDO:0000355 | +| MONDO:0968964 | amelogenesis imperfecta type 1k | DOID:0060945 | MONDO:equivalentTo | amelogenesis imperfecta type 1K | | MONDO:0019507 | +| MONDO:0968965 | ullrich congenital muscular dystrophy 1a | DOID:0060946 | MONDO:equivalentTo | Ullrich congenital muscular dystrophy 1A | An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the COL6A1 gene on chromosome 21q22. | MONDO:0000355 | +| MONDO:0968966 | autosomal recessive intellectual developmental disorder 82 | DOID:0060947 | MONDO:equivalentTo | autosomal recessive intellectual developmental disorder 82 | An autosomal recessive intellectual developmental disorder characterized by global developmental delay with motor and speech delay, variably impaired intellectual development, and behavioral abnormalities has_material_basis_in homozygous mutation in the NSUN6 gene on chromosome 10p12. | MONDO:0019502 | +| MONDO:0968967 | sickle cell disease | DOID:0081445 | MONDO:equivalentTo | sickle cell disease | A blood protein disease that is characterized by chronic hemolytic anemia and intermittent vaso-occlusive events that result in tissue ischemia leading to acute and chronic pain as well as organ damage that can affect any organ system, resulting from the replacement of one of the beta-globin subunits in hemoglobin with atypical hemoglobin molecules called hemoglobin S which can distort red blood cells into a sickle or crescent shape. Sickle cell disease subtypes should include a detailed genotypic description for the hemoglobin molecules (e.g., Hb S/S, Hb S/C, Hb S/β0-thalassemia). | MONDO:0003804 | +| MONDO:0968968 | dimethylglycine dehydrogenase deficiency | DOID:0081446 | MONDO:equivalentTo | dimethylglycine dehydrogenase deficiency | An amino acid metabolic disorder that is characterized by a fish-like odor, chronic fatigue, and increased level of the muscle form of creatine kinase in serum and that has_material_basis_in homozygous mutation in the DMGDH on chromosome 5q14. | MONDO:0004736|MONDO:0006025 | +| MONDO:0968969 | cone-rod dystrophy 21 | DOID:0081447 | MONDO:equivalentTo | cone-rod dystrophy 21 | A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DRAM2 gene on chromosome 1p13. | MONDO:0006025|MONDO:0015993 | +| MONDO:0968970 | cone-rod dystrophy 22 | DOID:0081448 | MONDO:equivalentTo | cone-rod dystrophy 22 | A cone-rod dystrophy that is characterized by loss of central vision due to cone photoreceptor degeneration, with onset of symptoms ranging from the first to fifth decades of life and that has_material_basis_in homozygous mutation in the TLCD3B gene on chromosome 16p11. | MONDO:0006025|MONDO:0015993 | +| MONDO:0968971 | cone-rod dystrophy 24 | DOID:0081449 | MONDO:equivalentTo | cone-rod dystrophy 24 | A cone-rod dystrophy that is characterized by night blindness, defective color vision, and reduced visual acuity and that has_material_basis_in heterozygous mutation in the UNC119 gene on chromosome 17q11. | MONDO:0000426|MONDO:0015993 | +| MONDO:0968972 | hyperimmunoglobulinemia d periodic fever syndrome | DOID:0081450 | MONDO:equivalentTo | hyperimmunoglobulinemia D periodic fever syndrome | A hyperimmunoglobulin syndrome that is characterized as periodic fever from early infancy accompanied by elevated serum C-reactive protein and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding mevalonate kinase (MVK) on chromosome 12q24. | MONDO:0002468 | +| MONDO:0968973 | pfapa syndrome | DOID:0081451 | MONDO:equivalentTo | PFAPA syndrome | An autoimmune disease that is characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis. | MONDO:0007179 | +| MONDO:0968974 | large b-cell lymphoma | DOID:0081452 | MONDO:equivalentTo | large B-cell lymphoma | A B-cell lymphoma that is characterized by large lymphoid cells of the B-cell lineage that by definition form sheets or clusters. | MONDO:0004095 | \ No newline at end of file diff --git a/docs/reports/migrate_ncit.md b/docs/reports/migrate_ncit.md index a62a199c..aef1c4e5 100644 --- a/docs/reports/migrate_ncit.md +++ b/docs/reports/migrate_ncit.md @@ -916,7 +916,7 @@ | MONDO:0856703 | eyelid vascular disorder | NCIT:C35198 | MONDO:equivalentTo | Eyelid Vascular Disorder | | | | MONDO:0856706 | placental polyp | NCIT:C3521 | MONDO:equivalentTo | Placental Polyp | | MONDO:0021498|MONDO:0005079 | | MONDO:0856715 | chondromatosis | NCIT:C35259 | MONDO:equivalentTo | Chondromatosis | | MONDO:0024470 | -| MONDO:0856716 | malignant submandibular gland neoplasm | NCIT:C3526 | MONDO:equivalentTo | Malignant Submandibular Gland Neoplasm | | MONDO:0021244|MONDO:0044743 | +| MONDO:0856716 | malignant submandibular gland neoplasm | NCIT:C3526 | MONDO:equivalentTo | Malignant Submandibular Gland Neoplasm | | MONDO:0044743|MONDO:0021244 | | MONDO:0856723 | malignant palate neoplasm | NCIT:C3530 | MONDO:equivalentTo | Malignant Palate Neoplasm | | MONDO:0005515|MONDO:0005286 | | MONDO:0856758 | malignant neoplasm of multiple primary sites | NCIT:C35427 | MONDO:equivalentTo | Malignant Neoplasm of Multiple Primary Sites | | MONDO:0004992 | | MONDO:0856764 | behavioral disorder | NCIT:C35470 | MONDO:equivalentTo | Behavioral Disorder | | | diff --git a/docs/reports/migrate_omim.md b/docs/reports/migrate_omim.md index aff723a4..70eb9f84 100644 --- a/docs/reports/migrate_omim.md +++ b/docs/reports/migrate_omim.md @@ -2,30 +2,16 @@ [Interactive FlatGithub table](https://flatgithub.com/monarch-initiative/mondo-ingest?filename=src/ontology/slurp/omim.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:0958322 | intellectual developmental disorder, x-linked, syndromic 37 | OMIM:301118 | MONDO:equivalentTo | intellectual developmental disorder, x-linked, syndromic 37 | | MONDO:0020119 | -| MONDO:0958323 | neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities | OMIM:620747 | MONDO:equivalentTo | neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities | | | -| MONDO:0958324 | generalized epilepsy with febrile seizures plus, type 12 | OMIM:620755 | MONDO:equivalentTo | generalized epilepsy with febrile seizures plus, type 12 | | MONDO:0018214 | -| MONDO:0958325 | thrombocytopenia 12 with or without myopathy | OMIM:620757 | MONDO:equivalentTo | thrombocytopenia 12 with or without myopathy | | MONDO:0100241 | -| MONDO:0958326 | macular dystrophy with or without cone dysfunction | OMIM:620762 | MONDO:equivalentTo | macular dystrophy with or without cone dysfunction | | | -| MONDO:0958327 | corneal dystrophy, lisch epithelial | OMIM:620763 | MONDO:equivalentTo | corneal dystrophy, lisch epithelial | | | -| MONDO:0958328 | seckel syndrome 11 | OMIM:620767 | MONDO:equivalentTo | seckel syndrome 11 | | | -| MONDO:0958329 | jeffries-lakhani neurodevelopmental syndrome | OMIM:620771 | MONDO:equivalentTo | jeffries-lakhani neurodevelopmental syndrome | | | -| MONDO:0958330 | developmental and epileptic encephalopathy 113 | OMIM:620772 | MONDO:equivalentTo | developmental and epileptic encephalopathy 113 | | MONDO:0100062 | -| MONDO:0958331 | developmental and epileptic encephalopathy 114 | OMIM:620774 | MONDO:equivalentTo | developmental and epileptic encephalopathy 114 | | MONDO:0100062 | -| MONDO:0958332 | neuromuscular disorder, congenital, with dysmorphic facies | OMIM:620775 | MONDO:equivalentTo | neuromuscular disorder, congenital, with dysmorphic facies | | | -| MONDO:0958333 | thrombocytopenia 13, syndromic | OMIM:620776 | MONDO:equivalentTo | thrombocytopenia 13, syndromic | | MONDO:0100241 | -| MONDO:0958334 | pulmonary hypertension, primary, 6 | OMIM:620777 | MONDO:equivalentTo | pulmonary hypertension, primary, 6 | | | -| MONDO:0958335 | cutis laxa, autosomal recessive, type 1d | OMIM:620780 | MONDO:equivalentTo | cutis laxa, autosomal recessive, type 1d | | MONDO:0100237 | -| MONDO:0968944 | intellectual developmental disorder, autosomal recessive 82 | OMIM:620779 | MONDO:equivalentTo | intellectual developmental disorder, autosomal recessive 82 | | MONDO:0019502 | -| MONDO:0968945 | neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder | OMIM:620782 | MONDO:equivalentTo | neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder | | | -| MONDO:0968946 | developmental and epileptic encephalopathy 115 | OMIM:620783 | MONDO:equivalentTo | developmental and epileptic encephalopathy 115 | | | -| MONDO:0968947 | neurodevelopmental disorder plus optic atrophy | OMIM:620784 | MONDO:equivalentTo | neurodevelopmental disorder plus optic atrophy | | | -| MONDO:0968948 | branchiootorenal syndrome | OMIMPS:113650 | MONDO:equivalentTo | Branchiootorenal syndrome | | | -| MONDO:0968949 | palmoplantar keratoderma, epidermolytic | OMIMPS:144200 | MONDO:equivalentTo | Palmoplantar keratoderma, epidermolytic | | | -| MONDO:0968950 | li-fraumeni syndrome | OMIMPS:151623 | MONDO:equivalentTo | Li-Fraumeni syndrome | | | -| MONDO:0968951 | hypouricemia, renal | OMIMPS:220150 | MONDO:equivalentTo | Hypouricemia, renal | | | -| MONDO:0968952 | bruck syndrome | OMIMPS:259450 | MONDO:equivalentTo | Bruck syndrome | | | -| MONDO:0968953 | branchiootic syndrome | OMIMPS:602588 | MONDO:equivalentTo | Branchiootic syndrome | | | \ 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:0968950 | li-fraumeni syndrome | OMIMPS:151623 | MONDO:equivalentTo | Li-Fraumeni syndrome | | | +| MONDO:0968976 | neurodevelopmental disorder with progressive movement abnormalities | OMIM:620785 | MONDO:equivalentTo | neurodevelopmental disorder with progressive movement abnormalities | | | +| MONDO:0968977 | basal ganglia calcification, idiopathic, 9, autosomal recessive | OMIM:620786 | MONDO:equivalentTo | basal ganglia calcification, idiopathic, 9, autosomal recessive | | | +| MONDO:0968978 | aplasia cutis-enamel dysplasia syndrome | OMIM:620789 | MONDO:equivalentTo | aplasia cutis-enamel dysplasia syndrome | | | +| MONDO:0968979 | neurodevelopmental disorder with hypotonia and seizures | OMIM:620790 | MONDO:equivalentTo | neurodevelopmental disorder with hypotonia and seizures | | | +| MONDO:0968980 | otosclerosis 12 | OMIM:620792 | MONDO:equivalentTo | otosclerosis 12 | | MONDO:0005349 | +| MONDO:0968981 | deafness, autosomal recessive 124 | OMIM:620794 | MONDO:equivalentTo | deafness, autosomal recessive 124 | | MONDO:0019588 | +| MONDO:0968982 | autoinflammation with episodic fever and immune dysregulation | OMIM:620795 | MONDO:equivalentTo | autoinflammation with episodic fever and immune dysregulation | | | +| MONDO:0968983 | proteasome-associated autoinflammatory syndrome 6 | OMIM:620796 | MONDO:equivalentTo | proteasome-associated autoinflammatory syndrome 6 | | MONDO:0009726 | +| MONDO:0968984 | citrullinemia | OMIMPS:215700 | MONDO:equivalentTo | Citrullinemia | | | \ No newline at end of file diff --git a/docs/reports/migrate_ordo.md b/docs/reports/migrate_ordo.md index 6e616d56..9ee305c6 100644 --- a/docs/reports/migrate_ordo.md +++ b/docs/reports/migrate_ordo.md @@ -2,32 +2,17 @@ [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:0958337 | disorder with optic nerve compression | Orphanet:519337 | MONDO:equivalentTo | Disorder with optic nerve compression | | MONDO:8000033 | -| MONDO:0958338 | congenital optic disc excavation of genetic origin | Orphanet:522514 | MONDO:equivalentTo | Congenital optic disc excavation of genetic origin | | MONDO:8000033|MONDO:0026186 | -| MONDO:0958339 | syndromic genetic disorder with strabismus | Orphanet:522520 | MONDO:equivalentTo | Syndromic genetic disorder with strabismus | | MONDO:8000033 | -| MONDO:0958340 | rare genetic disorder with entropion | Orphanet:522530 | MONDO:equivalentTo | Rare genetic disorder with entropion | | MONDO:8000033 | -| MONDO:0958341 | genetic superficial corneal dystrophy | Orphanet:522562 | MONDO:equivalentTo | Genetic superficial corneal dystrophy | | MONDO:8000033 | -| MONDO:0958342 | isolated optic nerve aplasia | Orphanet:637064 | MONDO:equivalentTo | Isolated optic nerve aplasia | A rare developmental defect during embryogenesis characterized by congenital absence of the optic nerve head, optic nerve fibers, retinal ganglion cells, and retinal blood vessels in a malformed eye. It often occurs unilaterally with otherwise normal brain development. In bilateral cases it is accompanied by other central nervous system malformations. | MONDO:0026186|MONDO:0020145|MONDO:8000034|MONDO:8000030 | -| MONDO:0958343 | papash syndrome | Orphanet:641380 | MONDO:equivalentTo | PAPASH syndrome | | MONDO:0000001|MONDO:8000034 | -| MONDO:0958344 | spinal dermal sinus | Orphanet:645188 | MONDO:equivalentTo | Spinal dermal sinus | A rare closed dysraphism with stalk characterized by a dorsal midline dermal sinus tract lined by keratinizing stratified squamous epithelium extending to the the intrathecal space. Other components such as hair follicles and shafts, mesenchymal derivatives (blood vessels and fibrous tissue) and occasionally nerve fibers can be observed. Inflamed granulation tissue containing mixed neutrophils, plasma cells, lymphocytes, and histiocytes is consistently found in the tract. It can also be associated with an intradural dermoid cyst. This malformation is at risk to cause intrathecal infections (meningitis, empyema) that justify a prophylactic surgery. | MONDO:0958259|MONDO:8000034|MONDO:8000030 | -| MONDO:0958345 | limited dorsal myeloschisis | Orphanet:645196 | MONDO:equivalentTo | Limited dorsal myeloschisis | A rare dysraphic abnormality characterized by a persistent connection between the neural tissue and overlying skin. The stalk-like connection consists of a fibroneural tract (mainly composed of fibrous attenuated mesenchymal tissue and neural elements without an epithelial lining) connecting the skin lesion to the underlying dorsal surface of the spinal cord. Fibroneural stalk varies in thickness and complexity and they pass through the deep fascia, a bifid lamina/ the interspinous ligament, and the dura. It can be associated with filum anomaly. Chiari II malformation is not present. | MONDO:0958259|MONDO:8000033 | -| MONDO:0958346 | isolated transitional filum lipoma | Orphanet:645322 | MONDO:equivalentTo | Isolated transitional filum lipoma | A rare dysraphic abnormality characterized by the infiltration of fatty tissue localized in the filum terminale, with abnormal conus shape. The spinal cord is typically attenuated and the limit between its end and the fatty filum is hard to distinguish. There are no additional spinal cord malformation, but it can be associated with vertebral abnormalities, anorectal malformation or other syndromic condition. It is named transitional for its intermediate image between an isolated filum lipoma and a terminal conus region lipoma. | MONDO:8000034|MONDO:8000030 | -| MONDO:0958347 | isolated filum lipoma | Orphanet:645325 | MONDO:equivalentTo | Isolated filum lipoma | A rare dysraphic abnormality characterized by the infiltration of fatty tissue localized in the filum terminale, thickens and loses its flexibility, with normal conus shape, regardless of conus level. There is no other spinal cord malformation associated, but it can be associated with extraspinal malformation (ex: anorectal malformation) or syndromic situation. | MONDO:8000034|MONDO:8000030 | -| MONDO:0958348 | retained medullary cord | Orphanet:645334 | MONDO:equivalentTo | Retained medullary cord | A rare closed dysraphism with terminal stalk characterized by persistant rudimentary spinal cord below conus. It contains non-functional neural tissue and is typically isolated. The diagnostic is suggested by attenuated conus without fat, further confirmed by pathological analysis (glioneuronal core with ependyma-lined lumen, nerve roots, and dorsal root ganglia). Differential diagnostic with intraoperative neurophysiological monitoring is mandatory as neuroimaging fails to distinguish it from functional conus. | MONDO:0958259|MONDO:8000034|MONDO:8000030 | -| MONDO:0958349 | dorsal spinal cord lipoma | Orphanet:645362 | MONDO:equivalentTo | Dorsal spinal cord lipoma | A rare lipomatous, dysraphic malformation characterized by attachment to the dorsal surface of the spinal cord but not extending to the conus. It can be associated with others features such as a stalk and vertebral bone abnormalities. | MONDO:0958260|MONDO:8000034|MONDO:8000030 | -| MONDO:0958350 | conus spinal cord lipoma | Orphanet:645367 | MONDO:equivalentTo | Conus spinal cord lipoma | A rare lipomatous, dysraphic malformation characterized by lipoma located wholly or partially at the conus. | MONDO:0958260|MONDO:8000033 | -| MONDO:0958351 | hemi-myeloschisis | Orphanet:645393 | MONDO:equivalentTo | Hemi-myeloschisis | A very rare form of composite dysraphism characterized by the presence of a split cord malformation and a myeloschisis on one of the two hemicords. Hemicords can be in a single dural sac or in two separated dural sacs. Other spinal cord malformations can be associated. Due to the comparable prognosis it is considered as a subtype of myeloschisis. | MONDO:0958076|MONDO:8000031 | -| MONDO:0958352 | true myeloschisis | Orphanet:645401 | MONDO:equivalentTo | True myeloschisis | A rare open neural tube defect characterized by no other malformation than myeloschisis (spina bifida with a neural placode exposed at or below the skin plane and Chiari II malformation). | MONDO:0958076|MONDO:8000031 | -| MONDO:0958353 | intermediate collagen vi-related muscular dystrophy | Orphanet:646113 | MONDO:equivalentTo | Intermediate collagen VI-related muscular dystrophy | | MONDO:8000034|MONDO:0958077|MONDO:0000001 | -| MONDO:0958354 | genetic central precocious puberty in female | Orphanet:650077 | MONDO:equivalentTo | Genetic central precocious puberty in female | | MONDO:8000034|MONDO:0000001 | -| MONDO:0958355 | secondary central precocious puberty in female | Orphanet:650082 | MONDO:equivalentTo | Secondary central precocious puberty in female | | MONDO:0000001|MONDO:8000034 | -| MONDO:0958356 | primary central precocious puberty in male | Orphanet:650087 | MONDO:equivalentTo | Primary central precocious puberty in male | | MONDO:8000034|MONDO:0000001|MONDO:0958270 | -| MONDO:0958357 | secondary central precocious puberty in male | Orphanet:650092 | MONDO:equivalentTo | Secondary central precocious puberty in male | | MONDO:0958270|MONDO:8000034|MONDO:0000001 | -| MONDO:0968955 | hypocalcified amelogenesis imperfecta | Orphanet:100032 | MONDO:equivalentTo | Hypocalcified amelogenesis imperfecta | | MONDO:8000031|MONDO:0019507 | -| MONDO:0968956 | acrodermatitis continua of hallopeau | Orphanet:163931 | MONDO:equivalentTo | Acrodermatitis continua of Hallopeau | A rare, genetic, chronic, recurrent, slowly progressive, epidermal disease characterized by small, sterile, pustular eruptions, involving the nails and surrounding skin of the fingers and/or toes, which coalesce and burst, leaving erythematous, atrophic skin where new pustules develop. Onychodystrophy is frequently associated and anonychia and osteolysis are reported in severe cases. Local expansion (to involve the hands, forearms and/or feet) and involvement of mucosal surfaces (e.g. conjunctiva, tongue, urethra) may be observed. | MONDO:8000034|MONDO:0000001|MONDO:0019275|MONDO:0019274 | -| MONDO:0968957 | rare lymphatic malformation | Orphanet:2415 | MONDO:equivalentTo | Rare lymphatic malformation | | MONDO:0016233|MONDO:8000033 | -| MONDO:0968958 | generalized pustular psoriasis | Orphanet:247353 | MONDO:equivalentTo | Generalized pustular psoriasis | Generalized pustular psoriasis is a severe inflammatory skin disease that can be life-threatening and that is characterized by recurrent episodes of high fever, fatigue, episodic erythematous cutaneous eruptions with sterile cutaneous pustules formation on various parts of the body, and neutrophil leukocytosis. | MONDO:0019274|MONDO:0000001|MONDO:0019275|MONDO:8000034 | -| MONDO:0968959 | isolated arhinencephaly | Orphanet:268936 | MONDO:equivalentTo | Isolated arhinencephaly | Isolated arhinencephaly is a rare non-syndromic central nervous system malformation defined by the agenesis of the olfactory bulbs and tracts and characterized by complete congenital anosmia. | MONDO:0016054|MONDO:8000034|MONDO:8000030 | \ 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:0958337 | disorder with optic nerve compression | Orphanet:519337 | MONDO:equivalentTo | Disorder with optic nerve compression | | MONDO:8000033 | +| MONDO:0958338 | congenital optic disc excavation of genetic origin | Orphanet:522514 | MONDO:equivalentTo | Congenital optic disc excavation of genetic origin | | MONDO:8000033|MONDO:0026186 | +| MONDO:0958339 | syndromic genetic disorder with strabismus | Orphanet:522520 | MONDO:equivalentTo | Syndromic genetic disorder with strabismus | | MONDO:8000033 | +| MONDO:0958340 | rare genetic disorder with entropion | Orphanet:522530 | MONDO:equivalentTo | Rare genetic disorder with entropion | | MONDO:8000033 | +| MONDO:0958341 | genetic superficial corneal dystrophy | Orphanet:522562 | MONDO:equivalentTo | Genetic superficial corneal dystrophy | | MONDO:8000033 | +| MONDO:0968986 | chaotic conus spinal cord lipoma | Orphanet:645285 | MONDO:equivalentTo | Chaotic conus spinal cord lipoma | A rare dysraphic spinal cord lipoma characterized by the lipomatous mass extending ventrally to the dorsal root entry zone, indicating a more severe malformation of the spinal cord. The diagnosis can be suggested on imaging but usually confirmed during surgery. | MONDO:0958350|MONDO:8000034|MONDO:8000030 | +| MONDO:0968987 | extramedullary conus spinal cord lipoma | Orphanet:645297 | MONDO:equivalentTo | Extramedullary conus spinal cord lipoma | A rare closed lipomatous, dysraphic malformation of the lower spinal cord characterized by extramedullary lipomatous mass attached to the conus region. The conus is dysplastic and poorly delineated. Various morphological subtypes are recognized. Possible symptoms include bowel and bladder dysfunction and neuro-orthopedic deformity of the lower limbs. | MONDO:0958350|MONDO:8000034|MONDO:8000030 | +| MONDO:0968988 | saccular spinal dysraphism with a stalk to the dome | Orphanet:645319 | MONDO:equivalentTo | Saccular spinal dysraphism with a stalk to the dome | A rare spinal dysraphism characterized by a meningocele, containing a stalk, that is attached to the inner surface of the meningocele. The stalk can be posteriorly fibroneural (saccular limited dorsal myeloschisis) or the spinal cord itself (myelic limited dorsal malformation). | MONDO:0958345|MONDO:8000033|MONDO:0017069 | +| MONDO:0968989 | non-saccular limited dorsal myeloschisis | Orphanet:645343 | MONDO:equivalentTo | Non-saccular limited dorsal myeloschisis | A rare form of limited dorsal myeloschisis (LDM), characterized by a non saccular cutaneous stigmata (midline skin abnormality classically dimple, pit or sometimes angioma), the stalk is attached to this cutaneous stigmata. Fibroneural stalk varies in thickness and complexity. | MONDO:0958345|MONDO:8000030|MONDO:8000034 | +| MONDO:0968990 | genetic central precocious puberty in male | Orphanet:650097 | MONDO:equivalentTo | Genetic central precocious puberty in male | | MONDO:8000031|MONDO:0958356 | +| MONDO:0968991 | non-genetic central precocious puberty in male | Orphanet:650102 | MONDO:equivalentTo | Non-genetic central precocious puberty in male | | MONDO:0958356|MONDO:8000031 | \ No newline at end of file diff --git a/docs/reports/unmapped.md b/docs/reports/unmapped.md index d27c789f..1d4965e7 100644 --- a/docs/reports/unmapped.md +++ b/docs/reports/unmapped.md @@ -6,9 +6,9 @@ | [NCIT](./unmapped_ncit.md) | 187,170 | 166,382 | 5,166 | 5,154 | 15,622 | 3,686 | 11,936 | 76.4% | | [ICD11FOUNDATION](./unmapped_icd11foundation.md) | 100,003 | 12,464 | 6,311 | 6,311 | 81,232 | 0 | 81,232 | 100.0% | | [GARD](./unmapped_gard.md) | 12,004 | 0 | 0 | 0 | 12,004 | 0 | 12,004 | 100.0% | -| [ORDO](./unmapped_ordo.md) | 15,402 | 6,207 | 1,391 | 1,166 | 9,195 | 9,102 | 93 | 1.0% | -| [DOID](./unmapped_doid.md) | 14,019 | 2,654 | 2,482 | 2,468 | 11,363 | 11,321 | 42 | 0.4% | -| [OMIM](./unmapped_omim.md) | 29,287 | 19,221 | 1,362 | 1,316 | 8,705 | 8,681 | 24 | 0.3% | +| [ORDO](./unmapped_ordo.md) | 15,402 | 6,207 | 1,391 | 1,166 | 9,195 | 9,123 | 72 | 0.8% | +| [DOID](./unmapped_doid.md) | 14,033 | 2,655 | 2,483 | 2,468 | 11,376 | 11,320 | 56 | 0.5% | +| [OMIM](./unmapped_omim.md) | 29,307 | 19,232 | 1,362 | 1,317 | 8,714 | 8,704 | 10 | 0.1% | `Ontology`: Name of ontology `Tot terms`: Total terms in ontology diff --git a/docs/reports/unmapped_doid.md b/docs/reports/unmapped_doid.md index b40ac20c..f4454232 100644 --- a/docs/reports/unmapped_doid.md +++ b/docs/reports/unmapped_doid.md @@ -8,6 +8,7 @@ | DOID:0081404 | BCOR-CCNB3 sarcoma | | DOID:0070539 | Halperin-Birk syndrome | | DOID:0081441 | Nicolaides-Baraitser syndrome | +| DOID:0081451 | PFAPA syndrome | | DOID:0081440 | Peroxisome biogenesis disorder 10B | | DOID:0081439 | Peroxisome biogenesis disorder 11B | | DOID:0081433 | Peroxisome biogenesis disorder 4B | @@ -18,6 +19,12 @@ | DOID:0081438 | Peroxisome biogenesis disorder 9B | | DOID:0081443 | Stolerman neurodevelopmental syndrome | | DOID:0081414 | TFEB-rearranged renal cell carcinoma | +| DOID:0060946 | Ullrich congenital muscular dystrophy 1A | +| DOID:0060942 | Ullrich congenital muscular dystrophy 1B | +| DOID:0060943 | Ullrich congenital muscular dystrophy 1C | +| DOID:0060944 | Ullrich congenital muscular dystrophy 2 | +| DOID:0060945 | amelogenesis imperfecta type 1K | +| DOID:0060947 | autosomal recessive intellectual developmental disorder 82 | | DOID:0081442 | blepharophimosis-impaired intellectual development syndrome | | DOID:0081416 | childhood renal cell carcinoma with MiT translocations | | DOID:0081407 | childhood round cell sarcoma with EWSR1-non-ETS fusion | @@ -25,10 +32,14 @@ | DOID:0060160 | childhood spinal muscular atrophy | | DOID:0111368 | cholesterol-ester transfer protein deficiency | | DOID:2536 | chronic inflammatory demyelinating polyneuritis | +| DOID:0081447 | cone-rod dystrophy 21 | +| DOID:0081448 | cone-rod dystrophy 22 | +| DOID:0081449 | cone-rod dystrophy 24 | | DOID:4668 | congenital kyphosis | +| DOID:0081446 | dimethylglycine dehydrogenase deficiency | | DOID:0060967 | dystonia 22, adult-onset | | DOID:0060966 | dystonia 22, juvenile-onset | -| DOID:0060936 | dystonia 28 childhood-onset | +| DOID:0060936 | dystonia 28, childhood-onset | | DOID:0060937 | dystonia 30 | | DOID:0060938 | dystonia 31 | | DOID:0060939 | dystonia 32 | @@ -36,7 +47,9 @@ | DOID:0060955 | dystonia 35, childhood-onset | | DOID:0060956 | dystonia 37, early-onset with striatal lesions | | DOID:0060963 | dystonia, DOPA-responsive | -| DOID:0060944 | episodic kinesigenic dyskinesia 3 | +| DOID:0081450 | hyperimmunoglobulinemia D periodic fever syndrome | +| DOID:0060941 | interstitial lung disease 1 | +| DOID:0081452 | large B-cell lymphoma | | DOID:0081431 | microcephaly, short stature, and limb abnormalities | | DOID:0081432 | microcephaly-micromelia syndrome | | DOID:0060333 | mitochondrial complex V (ATP synthase) deficiency nuclear type 4 | @@ -45,4 +58,5 @@ | DOID:9373 | postural kyphosis | | DOID:0081408 | round cell sarcoma with EWSR1-NFATC2 gene fusion | | DOID:0081409 | round cell sarcoma with EWSR1-PATZ1 gene fusion | -| DOID:0081410 | round cell sarcoma with FUS-NFATC2 gene fusion | \ No newline at end of file +| DOID:0081410 | round cell sarcoma with FUS-NFATC2 gene fusion | +| DOID:0081445 | sickle cell disease | \ No newline at end of file diff --git a/docs/reports/unmapped_omim.md b/docs/reports/unmapped_omim.md index aaa7d2cc..2bccf7a0 100644 --- a/docs/reports/unmapped_omim.md +++ b/docs/reports/unmapped_omim.md @@ -2,29 +2,15 @@ [Interactive FlatGithub table](https://flatgithub.com/monarch-initiative/mondo-ingest?filename=src/ontology/reports/omim_mapping_status.tsv) ### Unmapped mappable terms _(!excluded, !deprecated)_ -| subject_id | subject_label | -|:--------------|:-----------------------------------------------------------------------------------------------------------| -| OMIMPS:602588 | Branchiootic syndrome | -| OMIMPS:113650 | Branchiootorenal syndrome | -| OMIMPS:259450 | Bruck syndrome | -| OMIMPS:220150 | Hypouricemia, renal | -| OMIMPS:151623 | Li-Fraumeni syndrome | -| OMIMPS:144200 | Palmoplantar keratoderma, epidermolytic | -| OMIM:620763 | corneal dystrophy, lisch epithelial | -| OMIM:620780 | cutis laxa, autosomal recessive, type 1d | -| OMIM:620772 | developmental and epileptic encephalopathy 113 | -| OMIM:620774 | developmental and epileptic encephalopathy 114 | -| OMIM:620783 | developmental and epileptic encephalopathy 115 | -| OMIM:620755 | generalized epilepsy with febrile seizures plus, type 12 | -| OMIM:620779 | intellectual developmental disorder, autosomal recessive 82 | -| OMIM:301118 | intellectual developmental disorder, x-linked, syndromic 37 | -| OMIM:620771 | jeffries-lakhani neurodevelopmental syndrome | -| OMIM:620762 | macular dystrophy with or without cone dysfunction | -| OMIM:620784 | neurodevelopmental disorder plus optic atrophy | -| OMIM:620747 | neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities | -| OMIM:620782 | neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder | -| OMIM:620775 | neuromuscular disorder, congenital, with dysmorphic facies | -| OMIM:620777 | pulmonary hypertension, primary, 6 | -| OMIM:620767 | seckel syndrome 11 | -| OMIM:620757 | thrombocytopenia 12 with or without myopathy | -| OMIM:620776 | thrombocytopenia 13, syndromic | \ No newline at end of file +| subject_id | subject_label | +|:--------------|:--------------------------------------------------------------------| +| OMIMPS:215700 | Citrullinemia | +| OMIMPS:151623 | Li-Fraumeni syndrome | +| OMIM:620789 | aplasia cutis-enamel dysplasia syndrome | +| OMIM:620795 | autoinflammation with episodic fever and immune dysregulation | +| OMIM:620786 | basal ganglia calcification, idiopathic, 9, autosomal recessive | +| OMIM:620794 | deafness, autosomal recessive 124 | +| OMIM:620790 | neurodevelopmental disorder with hypotonia and seizures | +| OMIM:620785 | neurodevelopmental disorder with progressive movement abnormalities | +| OMIM:620792 | otosclerosis 12 | +| OMIM:620796 | proteasome-associated autoinflammatory syndrome 6 | \ No newline at end of file diff --git a/docs/reports/unmapped_ordo.md b/docs/reports/unmapped_ordo.md index b34307cd..546991d4 100644 --- a/docs/reports/unmapped_ordo.md +++ b/docs/reports/unmapped_ordo.md @@ -10,46 +10,25 @@ | Orphanet:409978 | 6-9 / 10 000 | | Orphanet:409979 | <1 / 1 000 000 | | Orphanet:409980 | >1 / 1000 | -| Orphanet:163931 | Acrodermatitis continua of Hallopeau | | Orphanet:645285 | Chaotic conus spinal cord lipoma | | Orphanet:522514 | Congenital optic disc excavation of genetic origin | -| Orphanet:645367 | Conus spinal cord lipoma | | Orphanet:519337 | Disorder with optic nerve compression | -| Orphanet:645362 | Dorsal spinal cord lipoma | | Orphanet:645297 | Extramedullary conus spinal cord lipoma | | Orphanet:645310 | Fibroneural non-saccular limited dorsal myeloschisis | -| Orphanet:247353 | Generalized pustular psoriasis | -| Orphanet:650077 | Genetic central precocious puberty in female | | Orphanet:650097 | Genetic central precocious puberty in male | | Orphanet:522562 | Genetic superficial corneal dystrophy | -| Orphanet:645393 | Hemi-myeloschisis | -| Orphanet:100032 | Hypocalcified amelogenesis imperfecta | -| Orphanet:646113 | Intermediate collagen VI-related muscular dystrophy | -| Orphanet:268936 | Isolated arhinencephaly | -| Orphanet:645325 | Isolated filum lipoma | -| Orphanet:637064 | Isolated optic nerve aplasia | -| Orphanet:645322 | Isolated transitional filum lipoma | -| Orphanet:645196 | Limited dorsal myeloschisis | | Orphanet:645300 | Lipomatous non-saccular limited dorsal myeloschisis | | Orphanet:645378 | Myelic limited dorsal malformation | | Orphanet:650102 | Non-genetic central precocious puberty in male | | Orphanet:645343 | Non-saccular limited dorsal myeloschisis | -| Orphanet:641380 | PAPASH syndrome | | Orphanet:645294 | Posterior extramedullary conus spinal cord lipoma | -| Orphanet:650087 | Primary central precocious puberty in male | | Orphanet:522530 | Rare genetic disorder with entropion | -| Orphanet:2415 | Rare lymphatic malformation | -| Orphanet:645334 | Retained medullary cord | | Orphanet:645354 | Saccular limited dorsal myeloschisis | | Orphanet:645319 | Saccular spinal dysraphism with a stalk to the dome | -| Orphanet:650082 | Secondary central precocious puberty in female | -| Orphanet:650092 | Secondary central precocious puberty in male | -| Orphanet:645188 | Spinal dermal sinus | | Orphanet:522520 | Syndromic genetic disorder with strabismus | | Orphanet:645288 | Terminal extramedullary conus spinal cord lipoma | | Orphanet:645337 | Terminal myelocystocele | | Orphanet:645291 | Transitional extramedullary conus spinal cord lipoma | -| Orphanet:645401 | True myeloschisis | | Orphanet:409981 | Unknown_epidemiological_range | | Orphanet:409934 | X-linked dominant | | Orphanet:409932 | X-linked recessive | diff --git a/docs/sources/ordo.md b/docs/sources/ordo.md index 4b70081a..5477e10b 100644 --- a/docs/sources/ordo.md +++ b/docs/sources/ordo.md @@ -7,12 +7,9 @@ **Homepage:** http://www.orphadata.org/ -**Comments about this source:** -ORDO is not really OWL in the strict sense. For example, disease 2 gene relationships follow the 'some, some' logic (a disease may have basis in the mutation of one of these), while the OWL interpretation of these axioms is that the disease has basis in the mutation of all of them. Example: ramona wartz disease can have a mutation in _any_ (not all) of the genes recorded in ORDO. This is why great care needs to be taking interpreting diesease 2 gene relationships during ingest! +**Comments about this source:** ORDO is not really OWL in the strict sense. For example, disease 2 gene relationships follow the 'some, some' logic (a disease may have basis in the mutation of one of these), while the OWL interpretation of these axioms is that the disease has basis in the mutation of all of them. Example: ramona wartz disease can have a mutation in _any_ (not all) of the genes recorded in ORDO. This is why great care needs to be taking interpreting diesease 2 gene relationships during ingest! + -About certain prefixes -- **ICD10EXP**: is when ORDO uses expressions over ICD10 codes, for example to express a range of codes. It is specific to Orphanet use cases and will never be aligned in Mondo, but could give some “useful” information for curators about the intentions of a group of disorders term. -- **ICD9 and ICD9CM**: As we do not seek to align with ICD9, these are just prefixes in ORDO and DOID we dont really care about other other than for documentative purposes. ## Preprocessing: * **EntityRemoval**: diff --git a/src/mappings/doid.sssom.tsv b/src/mappings/doid.sssom.tsv index eecb9306..5d5cb75c 100644 --- a/src/mappings/doid.sssom.tsv +++ b/src/mappings/doid.sssom.tsv @@ -160,15 +160,15 @@ DOID:0050148 laryngotracheitis oboInOwl:hasDbXref UMLS:C0155837 semapv:Unspecifi DOID:0050152 aspiration pneumonia oboInOwl:hasDbXref ICD10CM:J69.0 semapv:UnspecifiedMatching DOID:0050152 aspiration pneumonia oboInOwl:hasDbXref MESH:D011015 semapv:UnspecifiedMatching DOID:0050152 aspiration pneumonia oboInOwl:hasDbXref UMLS:C0032290 semapv:UnspecifiedMatching -DOID:0050156 idiopathic pulmonary fibrosis oboInOwl:hasDbXref EFO:0000768 semapv:UnspecifiedMatching -DOID:0050156 idiopathic pulmonary fibrosis oboInOwl:hasDbXref GARD:8609 semapv:UnspecifiedMatching -DOID:0050156 idiopathic pulmonary fibrosis oboInOwl:hasDbXref ICD10CM:J84.112 semapv:UnspecifiedMatching -DOID:0050156 idiopathic pulmonary fibrosis oboInOwl:hasDbXref ICD9CM:516.31 semapv:UnspecifiedMatching -DOID:0050156 idiopathic pulmonary fibrosis oboInOwl:hasDbXref MESH:D054990 semapv:UnspecifiedMatching -DOID:0050156 idiopathic pulmonary fibrosis oboInOwl:hasDbXref NCI:C35716 semapv:UnspecifiedMatching -DOID:0050156 idiopathic pulmonary fibrosis oboInOwl:hasDbXref OMIM:178500 semapv:UnspecifiedMatching -DOID:0050156 idiopathic pulmonary fibrosis oboInOwl:hasDbXref UMLS:C1800706 semapv:UnspecifiedMatching -DOID:0050156 idiopathic pulmonary fibrosis skos:exactMatch OMIM:178500 semapv:UnspecifiedMatching +DOID:0050156 interstitial lung disease 2 oboInOwl:hasDbXref EFO:0000768 semapv:UnspecifiedMatching +DOID:0050156 interstitial lung disease 2 oboInOwl:hasDbXref GARD:8609 semapv:UnspecifiedMatching +DOID:0050156 interstitial lung disease 2 oboInOwl:hasDbXref ICD10CM:J84.112 semapv:UnspecifiedMatching +DOID:0050156 interstitial lung disease 2 oboInOwl:hasDbXref ICD9CM:516.31 semapv:UnspecifiedMatching +DOID:0050156 interstitial lung disease 2 oboInOwl:hasDbXref MESH:D054990 semapv:UnspecifiedMatching +DOID:0050156 interstitial lung disease 2 oboInOwl:hasDbXref NCI:C35716 semapv:UnspecifiedMatching +DOID:0050156 interstitial lung disease 2 oboInOwl:hasDbXref OMIM:178500 semapv:UnspecifiedMatching +DOID:0050156 interstitial lung disease 2 oboInOwl:hasDbXref UMLS:C1800706 semapv:UnspecifiedMatching +DOID:0050156 interstitial lung disease 2 skos:exactMatch OMIM:178500 semapv:UnspecifiedMatching DOID:0050157 cryptogenic organizing pneumonia oboInOwl:hasDbXref GARD:1620 semapv:UnspecifiedMatching DOID:0050157 cryptogenic organizing pneumonia oboInOwl:hasDbXref ICD10CM:J84.116 semapv:UnspecifiedMatching DOID:0050157 cryptogenic organizing pneumonia oboInOwl:hasDbXref ICD9CM:516.36 semapv:UnspecifiedMatching @@ -699,8 +699,7 @@ DOID:0050557 congenital muscular dystrophy oboInOwl:hasDbXref ORDO:97242 semapv: DOID:0050557 congenital muscular dystrophy oboInOwl:hasDbXref UMLS:C2937300 semapv:UnspecifiedMatching DOID:0050557 congenital muscular dystrophy skos:exactMatch OMIM:254100 semapv:UnspecifiedMatching DOID:0050558 Ullrich congenital muscular dystrophy oboInOwl:hasDbXref GARD:4769 semapv:UnspecifiedMatching -DOID:0050558 Ullrich congenital muscular dystrophy oboInOwl:hasDbXref OMIM:254090 semapv:UnspecifiedMatching -DOID:0050558 Ullrich congenital muscular dystrophy skos:exactMatch OMIM:254090 semapv:UnspecifiedMatching +DOID:0050558 Ullrich congenital muscular dystrophy oboInOwl:hasDbXref ORDO:75840 semapv:UnspecifiedMatching DOID:0050559 Fukuyama congenital muscular dystrophy oboInOwl:hasDbXref GARD:6475 semapv:UnspecifiedMatching DOID:0050559 Fukuyama congenital muscular dystrophy oboInOwl:hasDbXref OMIM:253800 semapv:UnspecifiedMatching DOID:0050559 Fukuyama congenital muscular dystrophy oboInOwl:hasDbXref ORDO:272 semapv:UnspecifiedMatching @@ -2481,6 +2480,7 @@ DOID:0060288 omodysplasia oboInOwl:hasDbXref OMIMPS:258315 semapv:UnspecifiedMat DOID:0060288 omodysplasia oboInOwl:hasDbXref ORDO:2733 semapv:UnspecifiedMatching DOID:0060288 omodysplasia oboInOwl:hasDbXref UMLS:C4510897 semapv:UnspecifiedMatching DOID:0060288 omodysplasia skos:exactMatch OMIMPS:258315 semapv:UnspecifiedMatching +DOID:0060289 Ohdo syndrome oboInOwl:hasDbXref GARD:3348 semapv:UnspecifiedMatching DOID:0060289 Ohdo syndrome oboInOwl:hasDbXref MESH:C536232 semapv:UnspecifiedMatching DOID:0060289 Ohdo syndrome oboInOwl:hasDbXref OMIM:249620 semapv:UnspecifiedMatching DOID:0060289 Ohdo syndrome oboInOwl:hasDbXref OMIM:300895 semapv:UnspecifiedMatching @@ -4624,7 +4624,7 @@ DOID:0060891 Parkinson's disease 19A skos:exactMatch OMIM:615528 semapv:Unspecif DOID:0060892 late onset Parkinson's disease oboInOwl:hasDbXref OMIM:168600 semapv:UnspecifiedMatching DOID:0060892 late onset Parkinson's disease oboInOwl:hasDbXref ORDO:411602 semapv:UnspecifiedMatching DOID:0060892 late onset Parkinson's disease skos:exactMatch OMIM:168600 semapv:UnspecifiedMatching -DOID:0060894 early-onset Parkinson's disease oboInOwl:hasDbXref ORDO:391411 semapv:UnspecifiedMatching +DOID:0060894 early-onset Parkinson's disease oboInOwl:hasDbXref ORDO:2828 semapv:UnspecifiedMatching DOID:0060895 Parkinson's disease 4 oboInOwl:hasDbXref ICD10CM:G20 semapv:UnspecifiedMatching DOID:0060895 Parkinson's disease 4 oboInOwl:hasDbXref OMIM:605543 semapv:UnspecifiedMatching DOID:0060895 Parkinson's disease 4 skos:exactMatch OMIM:605543 semapv:UnspecifiedMatching @@ -4714,11 +4714,11 @@ DOID:0060935 infantile hypotonia with psychomotor retardation and characteristic DOID:0060935 infantile hypotonia with psychomotor retardation and characteristic facies-3 oboInOwl:hasDbXref ORDO:488632 semapv:UnspecifiedMatching DOID:0060935 infantile hypotonia with psychomotor retardation and characteristic facies-3 oboInOwl:hasDbXref UMLS:C5567480 semapv:UnspecifiedMatching DOID:0060935 infantile hypotonia with psychomotor retardation and characteristic facies-3 skos:exactMatch OMIM:616900 semapv:UnspecifiedMatching -DOID:0060936 dystonia 28 childhood-onset oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching -DOID:0060936 dystonia 28 childhood-onset oboInOwl:hasDbXref OMIM:617284 semapv:UnspecifiedMatching -DOID:0060936 dystonia 28 childhood-onset oboInOwl:hasDbXref ORDO:589618 semapv:UnspecifiedMatching -DOID:0060936 dystonia 28 childhood-onset oboInOwl:hasDbXref UMLS:C4310633 semapv:UnspecifiedMatching -DOID:0060936 dystonia 28 childhood-onset skos:exactMatch OMIM:617284 semapv:UnspecifiedMatching +DOID:0060936 dystonia 28, childhood-onset oboInOwl:hasDbXref ICD10:G24.8 semapv:UnspecifiedMatching +DOID:0060936 dystonia 28, childhood-onset oboInOwl:hasDbXref OMIM:617284 semapv:UnspecifiedMatching +DOID:0060936 dystonia 28, childhood-onset oboInOwl:hasDbXref ORDO:589618 semapv:UnspecifiedMatching +DOID:0060936 dystonia 28, childhood-onset oboInOwl:hasDbXref UMLS:C4310633 semapv:UnspecifiedMatching +DOID:0060936 dystonia 28, childhood-onset skos:exactMatch OMIM:617284 semapv:UnspecifiedMatching DOID:0060937 dystonia 30 oboInOwl:hasDbXref OMIM:619291 semapv:UnspecifiedMatching DOID:0060937 dystonia 30 skos:exactMatch OMIM:619291 semapv:UnspecifiedMatching DOID:0060938 dystonia 31 oboInOwl:hasDbXref OMIM:619565 semapv:UnspecifiedMatching @@ -4727,15 +4727,33 @@ DOID:0060939 dystonia 32 oboInOwl:hasDbXref OMIM:619637 semapv:UnspecifiedMatchi DOID:0060939 dystonia 32 skos:exactMatch OMIM:619637 semapv:UnspecifiedMatching DOID:0060940 dystonia 33 oboInOwl:hasDbXref OMIM:619687 semapv:UnspecifiedMatching DOID:0060940 dystonia 33 skos:exactMatch OMIM:619687 semapv:UnspecifiedMatching -DOID:0060944 episodic kinesigenic dyskinesia 3 oboInOwl:hasDbXref OMIM:620245 semapv:UnspecifiedMatching -DOID:0060944 episodic kinesigenic dyskinesia 3 skos:exactMatch OMIM:620245 semapv:UnspecifiedMatching +DOID:0060941 interstitial lung disease 1 oboInOwl:hasDbXref GARD:8609 semapv:UnspecifiedMatching +DOID:0060941 interstitial lung disease 1 oboInOwl:hasDbXref OMIM:619611 semapv:UnspecifiedMatching +DOID:0060941 interstitial lung disease 1 oboInOwl:hasDbXref ORDO:2032 semapv:UnspecifiedMatching +DOID:0060941 interstitial lung disease 1 skos:exactMatch OMIM:619611 semapv:UnspecifiedMatching +DOID:0060942 Ullrich congenital muscular dystrophy 1B oboInOwl:hasDbXref OMIM:620727 semapv:UnspecifiedMatching +DOID:0060942 Ullrich congenital muscular dystrophy 1B skos:exactMatch OMIM:620727 semapv:UnspecifiedMatching +DOID:0060943 Ullrich congenital muscular dystrophy 1C oboInOwl:hasDbXref OMIM:620728 semapv:UnspecifiedMatching +DOID:0060943 Ullrich congenital muscular dystrophy 1C skos:exactMatch OMIM:620728 semapv:UnspecifiedMatching +DOID:0060944 Ullrich congenital muscular dystrophy 2 oboInOwl:hasDbXref OMIM:616470 semapv:UnspecifiedMatching +DOID:0060944 Ullrich congenital muscular dystrophy 2 skos:exactMatch OMIM:616470 semapv:UnspecifiedMatching +DOID:0060945 amelogenesis imperfecta type 1K oboInOwl:hasDbXref GARD:5791 semapv:UnspecifiedMatching +DOID:0060945 amelogenesis imperfecta type 1K oboInOwl:hasDbXref OMIM:620104 semapv:UnspecifiedMatching +DOID:0060945 amelogenesis imperfecta type 1K oboInOwl:hasDbXref ORDO:88661 semapv:UnspecifiedMatching +DOID:0060945 amelogenesis imperfecta type 1K skos:exactMatch OMIM:620104 semapv:UnspecifiedMatching +DOID:0060946 Ullrich congenital muscular dystrophy 1A oboInOwl:hasDbXref OMIM:254090 semapv:UnspecifiedMatching +DOID:0060946 Ullrich congenital muscular dystrophy 1A skos:exactMatch OMIM:254090 semapv:UnspecifiedMatching +DOID:0060947 autosomal recessive intellectual developmental disorder 82 oboInOwl:hasDbXref OMIM:620779 semapv:UnspecifiedMatching +DOID:0060947 autosomal recessive intellectual developmental disorder 82 skos:exactMatch OMIM:620779 semapv:UnspecifiedMatching DOID:0060955 dystonia 35, childhood-onset oboInOwl:hasDbXref OMIM:619921 semapv:UnspecifiedMatching DOID:0060955 dystonia 35, childhood-onset skos:exactMatch OMIM:619921 semapv:UnspecifiedMatching DOID:0060956 dystonia 37, early-onset with striatal lesions oboInOwl:hasDbXref OMIM:620427 semapv:UnspecifiedMatching DOID:0060956 dystonia 37, early-onset with striatal lesions skos:exactMatch OMIM:620427 semapv:UnspecifiedMatching DOID:0060957 myoclonic dystonia 34 oboInOwl:hasDbXref OMIM:619724 semapv:UnspecifiedMatching DOID:0060957 myoclonic dystonia 34 skos:exactMatch OMIM:619724 semapv:UnspecifiedMatching +DOID:0060963 dystonia, DOPA-responsive oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching DOID:0060963 dystonia, DOPA-responsive oboInOwl:hasDbXref OMIM:128230 semapv:UnspecifiedMatching +DOID:0060963 dystonia, DOPA-responsive oboInOwl:hasDbXref ORDO:98808 semapv:UnspecifiedMatching DOID:0060963 dystonia, DOPA-responsive skos:exactMatch OMIM:128230 semapv:UnspecifiedMatching DOID:0060966 dystonia 22, juvenile-onset oboInOwl:hasDbXref OMIM:620453 semapv:UnspecifiedMatching DOID:0060966 dystonia 22, juvenile-onset skos:exactMatch OMIM:620453 semapv:UnspecifiedMatching @@ -8087,8 +8105,8 @@ DOID:0080768 pyridoxine-dependent epilepsy skos:exactMatch SNOMEDCT_US_2020_03_0 DOID:0080769 early-onset vitamin B6-dependent epilepsy 1 oboInOwl:hasDbXref OMIM:617290 semapv:UnspecifiedMatching DOID:0080769 early-onset vitamin B6-dependent epilepsy 1 skos:exactMatch OMIM:617290 semapv:UnspecifiedMatching DOID:0080769 early-onset vitamin B6-dependent epilepsy 1 skos:exactMatch OMIM:617290 semapv:UnspecifiedMatching -DOID:0080770 autosomal dominant beta thalassemia oboInOwl:hasDbXref OMIM:603902 semapv:UnspecifiedMatching -DOID:0080770 autosomal dominant beta thalassemia skos:exactMatch OMIM:603902 semapv:UnspecifiedMatching +DOID:0080770 autosomal dominant beta thalassemia oboInOwl:hasDbXref OMIM:603902 semapv:UnspecifiedMatching +DOID:0080770 autosomal dominant beta thalassemia skos:exactMatch OMIM:603902 semapv:UnspecifiedMatching DOID:0080771 beta-thalassemia major oboInOwl:hasDbXref NCI:C129699 semapv:UnspecifiedMatching DOID:0080771 beta-thalassemia major oboInOwl:hasDbXref OMIM:187550 semapv:UnspecifiedMatching DOID:0080771 beta-thalassemia major oboInOwl:hasDbXref ORDO:231214 semapv:UnspecifiedMatching @@ -9406,6 +9424,23 @@ DOID:0081443 Stolerman neurodevelopmental syndrome oboInOwl:hasDbXref OMIM:61850 DOID:0081443 Stolerman neurodevelopmental syndrome skos:exactMatch OMIM:618505 semapv:UnspecifiedMatching DOID:0081444 neurodevelopmental disorder with poor growth and behavioral abnormalities oboInOwl:hasDbXref OMIM:620242 semapv:UnspecifiedMatching DOID:0081444 neurodevelopmental disorder with poor growth and behavioral abnormalities skos:exactMatch OMIM:620242 semapv:UnspecifiedMatching +DOID:0081445 sickle cell disease oboInOwl:hasDbXref OMIM:603903 semapv:UnspecifiedMatching +DOID:0081445 sickle cell disease skos:exactMatch OMIM:603903 semapv:UnspecifiedMatching +DOID:0081446 dimethylglycine dehydrogenase deficiency oboInOwl:hasDbXref OMIM:605850 semapv:UnspecifiedMatching +DOID:0081446 dimethylglycine dehydrogenase deficiency oboInOwl:hasDbXref ORDO:243343 semapv:UnspecifiedMatching +DOID:0081446 dimethylglycine dehydrogenase deficiency skos:exactMatch OMIM:605850 semapv:UnspecifiedMatching +DOID:0081447 cone-rod dystrophy 21 oboInOwl:hasDbXref OMIM:616502 semapv:UnspecifiedMatching +DOID:0081447 cone-rod dystrophy 21 skos:exactMatch OMIM:616502 semapv:UnspecifiedMatching +DOID:0081448 cone-rod dystrophy 22 oboInOwl:hasDbXref OMIM:619531 semapv:UnspecifiedMatching +DOID:0081448 cone-rod dystrophy 22 skos:exactMatch OMIM:619531 semapv:UnspecifiedMatching +DOID:0081449 cone-rod dystrophy 24 oboInOwl:hasDbXref OMIM:620342 semapv:UnspecifiedMatching +DOID:0081449 cone-rod dystrophy 24 skos:exactMatch OMIM:620342 semapv:UnspecifiedMatching +DOID:0081450 hyperimmunoglobulinemia D periodic fever syndrome oboInOwl:hasDbXref GARD:2788 semapv:UnspecifiedMatching +DOID:0081450 hyperimmunoglobulinemia D periodic fever syndrome oboInOwl:hasDbXref OMIM:260920 semapv:UnspecifiedMatching +DOID:0081450 hyperimmunoglobulinemia D periodic fever syndrome oboInOwl:hasDbXref ORDO:343 semapv:UnspecifiedMatching +DOID:0081450 hyperimmunoglobulinemia D periodic fever syndrome skos:exactMatch OMIM:260920 semapv:UnspecifiedMatching +DOID:0081451 PFAPA syndrome oboInOwl:hasDbXref GARD:5657 semapv:UnspecifiedMatching +DOID:0081451 PFAPA syndrome oboInOwl:hasDbXref ORDO:42642 semapv:UnspecifiedMatching DOID:0090001 Fraser syndrome oboInOwl:hasDbXref GARD:6465 semapv:UnspecifiedMatching DOID:0090001 Fraser syndrome oboInOwl:hasDbXref ICD10CM:Q87.0 semapv:UnspecifiedMatching DOID:0090001 Fraser syndrome oboInOwl:hasDbXref MESH:D058497 semapv:UnspecifiedMatching @@ -9603,10 +9638,10 @@ DOID:0090044 dystonia 9 oboInOwl:hasDbXref ICD10CM:G24.8 semapv:UnspecifiedMatch DOID:0090044 dystonia 9 oboInOwl:hasDbXref OMIM:601042 semapv:UnspecifiedMatching DOID:0090044 dystonia 9 oboInOwl:hasDbXref ORDO:53583 semapv:UnspecifiedMatching DOID:0090044 dystonia 9 skos:exactMatch OMIM:601042 semapv:UnspecifiedMatching -DOID:0090045 childhood onset GLUT1 deficiency syndrome 2 oboInOwl:hasDbXref ICD10CM:G24.8 semapv:UnspecifiedMatching -DOID:0090045 childhood onset GLUT1 deficiency syndrome 2 oboInOwl:hasDbXref OMIM:612126 semapv:UnspecifiedMatching -DOID:0090045 childhood onset GLUT1 deficiency syndrome 2 oboInOwl:hasDbXref ORDO:98811 semapv:UnspecifiedMatching -DOID:0090045 childhood onset GLUT1 deficiency syndrome 2 skos:exactMatch OMIM:612126 semapv:UnspecifiedMatching +DOID:0090045 childhood-onset GLUT1 deficiency syndrome 2 oboInOwl:hasDbXref ICD10CM:G24.8 semapv:UnspecifiedMatching +DOID:0090045 childhood-onset GLUT1 deficiency syndrome 2 oboInOwl:hasDbXref OMIM:612126 semapv:UnspecifiedMatching +DOID:0090045 childhood-onset GLUT1 deficiency syndrome 2 oboInOwl:hasDbXref ORDO:98811 semapv:UnspecifiedMatching +DOID:0090045 childhood-onset GLUT1 deficiency syndrome 2 skos:exactMatch OMIM:612126 semapv:UnspecifiedMatching DOID:0090046 dystonia 21 oboInOwl:hasDbXref ICD10CM:G24.1 semapv:UnspecifiedMatching DOID:0090046 dystonia 21 oboInOwl:hasDbXref OMIM:614588 semapv:UnspecifiedMatching DOID:0090046 dystonia 21 oboInOwl:hasDbXref ORDO:306734 semapv:UnspecifiedMatching @@ -19108,11 +19143,9 @@ DOID:10923 sickle cell anemia oboInOwl:hasDbXref MESH:D000755 semapv:Unspecified DOID:10923 sickle cell anemia oboInOwl:hasDbXref MESH:D006450 semapv:UnspecifiedMatching DOID:10923 sickle cell anemia oboInOwl:hasDbXref NCI:C34383 semapv:UnspecifiedMatching DOID:10923 sickle cell anemia oboInOwl:hasDbXref NCI:C34676 semapv:UnspecifiedMatching -DOID:10923 sickle cell anemia oboInOwl:hasDbXref OMIM:603903 semapv:UnspecifiedMatching DOID:10923 sickle cell anemia oboInOwl:hasDbXref ORDO:232 semapv:UnspecifiedMatching DOID:10923 sickle cell anemia oboInOwl:hasDbXref UMLS:C0002895 semapv:UnspecifiedMatching DOID:10923 sickle cell anemia oboInOwl:hasDbXref UMLS:C0019034 semapv:UnspecifiedMatching -DOID:10923 sickle cell anemia skos:exactMatch OMIM:603903 semapv:UnspecifiedMatching DOID:10927 gastrojejunal ulcer oboInOwl:hasDbXref ICD10CM:K28.0 semapv:UnspecifiedMatching DOID:10927 gastrojejunal ulcer oboInOwl:hasDbXref ICD9CM:534.0 semapv:UnspecifiedMatching DOID:10927 gastrojejunal ulcer oboInOwl:hasDbXref UMLS:C0156042 semapv:UnspecifiedMatching @@ -19254,11 +19287,11 @@ DOID:10976 membranous glomerulonephritis oboInOwl:hasDbXref ICD10CM:N03.2 semapv DOID:10976 membranous glomerulonephritis oboInOwl:hasDbXref MESH:D015433 semapv:UnspecifiedMatching DOID:10976 membranous glomerulonephritis oboInOwl:hasDbXref NCI:C34645 semapv:UnspecifiedMatching DOID:10976 membranous glomerulonephritis oboInOwl:hasDbXref UMLS:C0017665 semapv:UnspecifiedMatching -DOID:1098 fetal erythroblastosis oboInOwl:hasDbXref ICD10CM:P55 semapv:UnspecifiedMatching -DOID:1098 fetal erythroblastosis oboInOwl:hasDbXref ICD9CM:773 semapv:UnspecifiedMatching -DOID:1098 fetal erythroblastosis oboInOwl:hasDbXref MESH:D004899 semapv:UnspecifiedMatching -DOID:1098 fetal erythroblastosis oboInOwl:hasDbXref NCI:C101304 semapv:UnspecifiedMatching -DOID:1098 fetal erythroblastosis oboInOwl:hasDbXref UMLS:C0014761 semapv:UnspecifiedMatching +DOID:1098 hemolytic disease of the fetus oboInOwl:hasDbXref ICD10CM:P55 semapv:UnspecifiedMatching +DOID:1098 hemolytic disease of the fetus oboInOwl:hasDbXref ICD9CM:773 semapv:UnspecifiedMatching +DOID:1098 hemolytic disease of the fetus oboInOwl:hasDbXref MESH:D004899 semapv:UnspecifiedMatching +DOID:1098 hemolytic disease of the fetus oboInOwl:hasDbXref NCI:C101304 semapv:UnspecifiedMatching +DOID:1098 hemolytic disease of the fetus oboInOwl:hasDbXref UMLS:C0014761 semapv:UnspecifiedMatching DOID:10983 Alport syndrome oboInOwl:hasDbXref GARD:5785 semapv:UnspecifiedMatching DOID:10983 Alport syndrome oboInOwl:hasDbXref MESH:D009394 semapv:UnspecifiedMatching DOID:10983 Alport syndrome oboInOwl:hasDbXref ORDO:63 semapv:UnspecifiedMatching @@ -22426,8 +22459,8 @@ DOID:1312 focal segmental glomerulosclerosis skos:exactMatch OMIMPS:603278 semap DOID:13120 protein-deficiency anemia oboInOwl:hasDbXref ICD10CM:D53.0 semapv:UnspecifiedMatching DOID:13120 protein-deficiency anemia oboInOwl:hasDbXref ICD9CM:281.4 semapv:UnspecifiedMatching DOID:13120 protein-deficiency anemia oboInOwl:hasDbXref UMLS:C0154290 semapv:UnspecifiedMatching -DOID:13121 deficiency anemia oboInOwl:hasDbXref ICD9CM:281.9 semapv:UnspecifiedMatching -DOID:13121 deficiency anemia oboInOwl:hasDbXref UMLS:C0041782 semapv:UnspecifiedMatching +DOID:13121 obsolete deficiency anemia oboInOwl:hasDbXref ICD9CM:281.9 semapv:UnspecifiedMatching +DOID:13121 obsolete deficiency anemia oboInOwl:hasDbXref UMLS:C0041782 semapv:UnspecifiedMatching DOID:13127 gonococcal spondylitis oboInOwl:hasDbXref ICD9CM:098.53 semapv:UnspecifiedMatching DOID:13127 gonococcal spondylitis oboInOwl:hasDbXref UMLS:C0153219 semapv:UnspecifiedMatching DOID:13129 severe pre-eclampsia oboInOwl:hasDbXref ICD9CM:642.50 semapv:UnspecifiedMatching @@ -27759,15 +27792,15 @@ DOID:2986 IgA glomerulonephritis oboInOwl:hasDbXref NCI:C34643 semapv:Unspecifie DOID:2986 IgA glomerulonephritis oboInOwl:hasDbXref OMIM:161950 semapv:UnspecifiedMatching DOID:2986 IgA glomerulonephritis oboInOwl:hasDbXref UMLS:C0017661 semapv:UnspecifiedMatching DOID:2986 IgA glomerulonephritis skos:exactMatch OMIM:161950 semapv:UnspecifiedMatching -DOID:2987 familial mediterranean fever oboInOwl:hasDbXref GARD:6421 semapv:UnspecifiedMatching -DOID:2987 familial mediterranean fever oboInOwl:hasDbXref ICD10CM:M04.1 semapv:UnspecifiedMatching -DOID:2987 familial mediterranean fever oboInOwl:hasDbXref ICD9CM:277.31 semapv:UnspecifiedMatching -DOID:2987 familial mediterranean fever oboInOwl:hasDbXref MESH:D010505 semapv:UnspecifiedMatching -DOID:2987 familial mediterranean fever oboInOwl:hasDbXref NCI:C84707 semapv:UnspecifiedMatching -DOID:2987 familial mediterranean fever oboInOwl:hasDbXref OMIM:134610 semapv:UnspecifiedMatching -DOID:2987 familial mediterranean fever oboInOwl:hasDbXref OMIM:249100 semapv:UnspecifiedMatching -DOID:2987 familial mediterranean fever oboInOwl:hasDbXref ORDO:342 semapv:UnspecifiedMatching -DOID:2987 familial mediterranean fever oboInOwl:hasDbXref UMLS:C0031069 semapv:UnspecifiedMatching +DOID:2987 familial Mediterranean fever oboInOwl:hasDbXref GARD:6421 semapv:UnspecifiedMatching +DOID:2987 familial Mediterranean fever oboInOwl:hasDbXref ICD10CM:M04.1 semapv:UnspecifiedMatching +DOID:2987 familial Mediterranean fever oboInOwl:hasDbXref ICD9CM:277.31 semapv:UnspecifiedMatching +DOID:2987 familial Mediterranean fever oboInOwl:hasDbXref MESH:D010505 semapv:UnspecifiedMatching +DOID:2987 familial Mediterranean fever oboInOwl:hasDbXref NCI:C84707 semapv:UnspecifiedMatching +DOID:2987 familial Mediterranean fever oboInOwl:hasDbXref OMIM:134610 semapv:UnspecifiedMatching +DOID:2987 familial Mediterranean fever oboInOwl:hasDbXref OMIM:249100 semapv:UnspecifiedMatching +DOID:2987 familial Mediterranean fever oboInOwl:hasDbXref ORDO:342 semapv:UnspecifiedMatching +DOID:2987 familial Mediterranean fever oboInOwl:hasDbXref UMLS:C0031069 semapv:UnspecifiedMatching DOID:2988 antiphospholipid syndrome oboInOwl:hasDbXref GARD:5824 semapv:UnspecifiedMatching DOID:2988 antiphospholipid syndrome oboInOwl:hasDbXref ICD10CM:D68.61 semapv:UnspecifiedMatching DOID:2988 antiphospholipid syndrome oboInOwl:hasDbXref MESH:D016736 semapv:UnspecifiedMatching @@ -27972,7 +28005,9 @@ DOID:3082 interstitial lung disease oboInOwl:hasDbXref GARD:13336 semapv:Unspeci DOID:3082 interstitial lung disease oboInOwl:hasDbXref ICD10CM:J84.9 semapv:UnspecifiedMatching DOID:3082 interstitial lung disease oboInOwl:hasDbXref MESH:D017563 semapv:UnspecifiedMatching DOID:3082 interstitial lung disease oboInOwl:hasDbXref NCI:C164315 semapv:UnspecifiedMatching +DOID:3082 interstitial lung disease oboInOwl:hasDbXref OMIMPS:619611 semapv:UnspecifiedMatching DOID:3082 interstitial lung disease oboInOwl:hasDbXref UMLS:C0206062 semapv:UnspecifiedMatching +DOID:3082 interstitial lung disease skos:exactMatch OMIMPS:619611 semapv:UnspecifiedMatching DOID:3083 chronic obstructive pulmonary disease oboInOwl:hasDbXref EFO:0000341 semapv:UnspecifiedMatching DOID:3083 chronic obstructive pulmonary disease oboInOwl:hasDbXref ICD10CM:J44.9 semapv:UnspecifiedMatching DOID:3083 chronic obstructive pulmonary disease oboInOwl:hasDbXref MESH:D029424 semapv:UnspecifiedMatching diff --git a/src/mappings/gard.sssom.tsv b/src/mappings/gard.sssom.tsv index 47d3aba2..c17c7422 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/988ec37a-1a1b-41dd-a75c-7e23fe191141 +# mapping_set_id: https://w3id.org/sssom/mappings/71aecb40-1bdc-40d5-bec3-1b64a1ec71a7 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 d7def3ad..98012aa8 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/5ae5496c-ac44-4847-ada8-77a8672f394c +# mapping_set_id: https://w3id.org/sssom/mappings/b064d8ea-3112-4b16-98b9-794ca754bd61 diff --git a/src/mappings/icd10who.sssom.tsv b/src/mappings/icd10who.sssom.tsv index daaf2144..6ae3ef82 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/f04b9b46-1ff1-4eec-8cc5-d92a1bee93ef +# mapping_set_id: https://w3id.org/sssom/mappings/3e569ce5-eb04-419a-8d48-097e42219a53 diff --git a/src/mappings/icd11foundation.sssom.tsv b/src/mappings/icd11foundation.sssom.tsv index d156d1e1..441850fa 100644 --- a/src/mappings/icd11foundation.sssom.tsv +++ b/src/mappings/icd11foundation.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/9738b534-87e3-44a6-9ac2-d541f4e0847e +# mapping_set_id: https://w3id.org/sssom/mappings/6fb59218-8678-4fd0-b82a-be2fed364df3 diff --git a/src/mappings/ncit.sssom.tsv b/src/mappings/ncit.sssom.tsv index c321fd23..b6728c9f 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/4b48e5e3-602c-4893-967b-d9cb598c4497 +# mapping_set_id: https://w3id.org/sssom/mappings/56a6cd2b-5cec-4616-ac7a-43a778be54d4 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 2e1c6eeb..9429662c 100644 --- a/src/mappings/omim.sssom.tsv +++ b/src/mappings/omim.sssom.tsv @@ -6940,7 +6940,7 @@ MONDO:0014163 skos:exactMatch OMIM:615396 left ventricular noncompaction 10 sem MONDO:0014164 skos:exactMatch OMIM:615397 meckel syndrome, type 11 semapv:UnspecifiedMatching MONDO:0014165 skos:exactMatch OMIM:615398 multiple congenital anomalies-hypotonia-seizures syndrome 3 semapv:UnspecifiedMatching MONDO:0014166 skos:exactMatch OMIM:615399 paroxysmal nocturnal hemoglobinuria 2 semapv:UnspecifiedMatching -MONDO:0014167 skos:exactMatch OMIM:615400 epilepsy, familial adult myoclonic, 5 semapv:UnspecifiedMatching +MONDO:0014167 skos:exactMatch OMIM:615400 epilepsy, early-onset, 5, with or without developmental delay semapv:UnspecifiedMatching MONDO:0014168 skos:exactMatch OMIM:615401 immunodeficiency 8 with lymphoproliferation semapv:UnspecifiedMatching MONDO:0014169 skos:exactMatch OMIM:615402 dyschromatosis universalis hereditaria 3 semapv:UnspecifiedMatching MONDO:0014170 skos:exactMatch OMIM:615411 cortical dysplasia, complex, with other brain malformations 3 semapv:UnspecifiedMatching @@ -23718,9 +23718,9 @@ OMIM:300211 episodic muscle weakness, X-linked skos:exactMatch MONDO:0010267 se OMIM:300212 RGN skos:exactMatch hgnc.symbol:9989 semapv:UnspecifiedMatching OMIM:300212 RGN skos:exactMatch hgnc.symbol:RGN semapv:UnspecifiedMatching OMIM:300212 RGN skos:exactMatch ncbigene:9104 semapv:UnspecifiedMatching -OMIM:300213 CXX1 skos:exactMatch hgnc.symbol:2569 semapv:UnspecifiedMatching -OMIM:300213 CXX1 skos:exactMatch hgnc.symbol:RTL8C semapv:UnspecifiedMatching -OMIM:300213 CXX1 skos:exactMatch ncbigene:8933 semapv:UnspecifiedMatching +OMIM:300213 RTL8C skos:exactMatch hgnc.symbol:2569 semapv:UnspecifiedMatching +OMIM:300213 RTL8C skos:exactMatch hgnc.symbol:RTL8C semapv:UnspecifiedMatching +OMIM:300213 RTL8C skos:exactMatch ncbigene:8933 semapv:UnspecifiedMatching OMIM:300214 PLXNB3 skos:exactMatch hgnc.symbol:9105 semapv:UnspecifiedMatching OMIM:300214 PLXNB3 skos:exactMatch hgnc.symbol:PLXNB3 semapv:UnspecifiedMatching OMIM:300214 PLXNB3 skos:exactMatch ncbigene:5365 semapv:UnspecifiedMatching @@ -25591,9 +25591,9 @@ OMIM:300963 ritscher-schinzel syndrome 2 skos:exactMatch MONDO:0010499 semapv:U OMIM:300964 LAS1L skos:exactMatch hgnc.symbol:25726 semapv:UnspecifiedMatching OMIM:300964 LAS1L skos:exactMatch hgnc.symbol:LAS1L semapv:UnspecifiedMatching OMIM:300964 LAS1L skos:exactMatch ncbigene:81887 semapv:UnspecifiedMatching -OMIM:300965 RGAG1 skos:exactMatch hgnc.symbol:29245 semapv:UnspecifiedMatching -OMIM:300965 RGAG1 skos:exactMatch hgnc.symbol:RTL9 semapv:UnspecifiedMatching -OMIM:300965 RGAG1 skos:exactMatch ncbigene:57529 semapv:UnspecifiedMatching +OMIM:300965 RTL9 skos:exactMatch hgnc.symbol:29245 semapv:UnspecifiedMatching +OMIM:300965 RTL9 skos:exactMatch hgnc.symbol:RTL9 semapv:UnspecifiedMatching +OMIM:300965 RTL9 skos:exactMatch ncbigene:57529 semapv:UnspecifiedMatching OMIM:300966 intellectual developmental disorder, x-linked, syndromic 33 skos:exactMatch MONDO:0010500 semapv:UnspecifiedMatching OMIM:300967 intellectual developmental disorder, x-linked, syndromic 34 skos:exactMatch MONDO:0010501 semapv:UnspecifiedMatching OMIM:300968 intellectual developmental disorder, X-linked 99, syndromic, female-restricted skos:exactMatch MONDO:0010502 semapv:UnspecifiedMatching @@ -37038,9 +37038,9 @@ OMIM:603694 type 2 diabetes mellitus 3 skos:exactMatch UMLS:C1863594 semapv:Uns OMIM:603695 GUCY1B2 skos:exactMatch hgnc.symbol:4686 semapv:UnspecifiedMatching OMIM:603695 GUCY1B2 skos:exactMatch hgnc.symbol:GUCY1B2 semapv:UnspecifiedMatching OMIM:603695 GUCY1B2 skos:exactMatch ncbigene:2974 semapv:UnspecifiedMatching -OMIM:603696 SEPT4 skos:exactMatch hgnc.symbol:9165 semapv:UnspecifiedMatching -OMIM:603696 SEPT4 skos:exactMatch hgnc.symbol:SEPTIN4 semapv:UnspecifiedMatching -OMIM:603696 SEPT4 skos:exactMatch ncbigene:5414 semapv:UnspecifiedMatching +OMIM:603696 SEPTIN4 skos:exactMatch hgnc.symbol:9165 semapv:UnspecifiedMatching +OMIM:603696 SEPTIN4 skos:exactMatch hgnc.symbol:SEPTIN4 semapv:UnspecifiedMatching +OMIM:603696 SEPTIN4 skos:exactMatch ncbigene:5414 semapv:UnspecifiedMatching OMIM:603697 ALOX15B skos:exactMatch hgnc.symbol:434 semapv:UnspecifiedMatching OMIM:603697 ALOX15B skos:exactMatch hgnc.symbol:ALOX15B semapv:UnspecifiedMatching OMIM:603697 ALOX15B skos:exactMatch ncbigene:247 semapv:UnspecifiedMatching @@ -59610,9 +59610,9 @@ OMIM:611735 CDCP1 skos:exactMatch ncbigene:64866 semapv:UnspecifiedMatching OMIM:611736 greb1 protein skos:exactMatch hgnc.symbol:24885 semapv:UnspecifiedMatching OMIM:611736 greb1 protein skos:exactMatch hgnc.symbol:GREB1 semapv:UnspecifiedMatching OMIM:611736 greb1 protein skos:exactMatch ncbigene:9687 semapv:UnspecifiedMatching -OMIM:611737 SEPT10 skos:exactMatch hgnc.symbol:14349 semapv:UnspecifiedMatching -OMIM:611737 SEPT10 skos:exactMatch hgnc.symbol:SEPTIN10 semapv:UnspecifiedMatching -OMIM:611737 SEPT10 skos:exactMatch ncbigene:151011 semapv:UnspecifiedMatching +OMIM:611737 SEPTIN10 skos:exactMatch hgnc.symbol:14349 semapv:UnspecifiedMatching +OMIM:611737 SEPTIN10 skos:exactMatch hgnc.symbol:SEPTIN10 semapv:UnspecifiedMatching +OMIM:611737 SEPTIN10 skos:exactMatch ncbigene:151011 semapv:UnspecifiedMatching OMIM:611740 BCO2 skos:exactMatch UMLS:C1425564 semapv:UnspecifiedMatching OMIM:611740 BCO2 skos:exactMatch hgnc.symbol:18503 semapv:UnspecifiedMatching OMIM:611740 BCO2 skos:exactMatch hgnc.symbol:BCO2 semapv:UnspecifiedMatching @@ -68078,7 +68078,7 @@ OMIM:615396 left ventricular noncompaction 10 skos:exactMatch MONDO:0014163 sem OMIM:615397 meckel syndrome, type 11 skos:exactMatch MONDO:0014164 semapv:UnspecifiedMatching OMIM:615398 multiple congenital anomalies-hypotonia-seizures syndrome 3 skos:exactMatch MONDO:0014165 semapv:UnspecifiedMatching OMIM:615399 paroxysmal nocturnal hemoglobinuria 2 skos:exactMatch MONDO:0014166 semapv:UnspecifiedMatching -OMIM:615400 epilepsy, familial adult myoclonic, 5 skos:exactMatch MONDO:0014167 semapv:UnspecifiedMatching +OMIM:615400 epilepsy, early-onset, 5, with or without developmental delay skos:exactMatch MONDO:0014167 semapv:UnspecifiedMatching OMIM:615401 immunodeficiency 8 with lymphoproliferation skos:exactMatch MONDO:0014168 semapv:UnspecifiedMatching OMIM:615402 dyschromatosis universalis hereditaria 3 skos:exactMatch MONDO:0014169 semapv:UnspecifiedMatching OMIM:615403 THOC6 skos:exactMatch UMLS:C1823273 semapv:UnspecifiedMatching @@ -80279,6 +80279,18 @@ OMIM:620778 KIR3DS1 skos:exactMatch ncbigene:3813 semapv:UnspecifiedMatching OMIM:620781 TMEM208 skos:exactMatch hgnc.symbol:25015 semapv:UnspecifiedMatching OMIM:620781 TMEM208 skos:exactMatch hgnc.symbol:TMEM208 semapv:UnspecifiedMatching OMIM:620781 TMEM208 skos:exactMatch ncbigene:29100 semapv:UnspecifiedMatching +OMIM:620787 TCAIM skos:exactMatch hgnc.symbol:25241 semapv:UnspecifiedMatching +OMIM:620787 TCAIM skos:exactMatch hgnc.symbol:TCAIM semapv:UnspecifiedMatching +OMIM:620787 TCAIM skos:exactMatch ncbigene:285343 semapv:UnspecifiedMatching +OMIM:620788 HIGD2A skos:exactMatch hgnc.symbol:28311 semapv:UnspecifiedMatching +OMIM:620788 HIGD2A skos:exactMatch hgnc.symbol:HIGD2A semapv:UnspecifiedMatching +OMIM:620788 HIGD2A skos:exactMatch ncbigene:192286 semapv:UnspecifiedMatching +OMIM:620791 CEP76 skos:exactMatch hgnc.symbol:25727 semapv:UnspecifiedMatching +OMIM:620791 CEP76 skos:exactMatch hgnc.symbol:CEP76 semapv:UnspecifiedMatching +OMIM:620791 CEP76 skos:exactMatch ncbigene:79959 semapv:UnspecifiedMatching +OMIM:620797 DNLZ skos:exactMatch hgnc.symbol:33879 semapv:UnspecifiedMatching +OMIM:620797 DNLZ skos:exactMatch hgnc.symbol:DNLZ semapv:UnspecifiedMatching +OMIM:620797 DNLZ skos:exactMatch ncbigene:728489 semapv:UnspecifiedMatching omim.ps:100070 Aortic aneurysm, familial abdominal skos:exactMatch MONDO:0007031 semapv:UnspecifiedMatching omim.ps:100300 Adams-Oliver syndrome skos:exactMatch MONDO:0007034 semapv:UnspecifiedMatching omim.ps:101800 Acrodysostosis skos:exactMatch MONDO:0019797 semapv:UnspecifiedMatching diff --git a/src/ontology/external/nord.robot.owl b/src/ontology/external/nord.robot.owl index 2c1ad0eb..d02d1884 100644 --- a/src/ontology/external/nord.robot.owl +++ b/src/ontology/external/nord.robot.owl @@ -8,7 +8,7 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"> - + diff --git a/src/ontology/imports/omo_import.owl b/src/ontology/imports/omo_import.owl index 6b516cc5..6f0a0df2 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 "2024-04-19") +Annotation(owl:versionInfo "2024-05-01") Declaration(Class()) Declaration(Class()) diff --git a/src/ontology/imports/ro_import.owl b/src/ontology/imports/ro_import.owl index 9a5c5465..40a5d310 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 "2024-04-19") +Annotation(owl:versionInfo "2024-05-01") Declaration(Class()) Declaration(Class()) diff --git a/src/ontology/lexmatch/README.md b/src/ontology/lexmatch/README.md index 7a855490..fecb53ff 100644 --- a/src/ontology/lexmatch/README.md +++ b/src/ontology/lexmatch/README.md @@ -3,8 +3,8 @@ * mondo-only: Positive mappings in MONDO not caught by the lexical mapping pipeline * split-mapping-set: Unmapped mappings broken down by predicate_id ## Summary of mappings: - * Number of mappings in [`unmapped_doid_lex`](unmapped_doid_lex.tsv): 31 - * Number of mappings in [`unmapped_doid_lex_exact`](unmapped_doid_lex.tsv): 10 + * Number of mappings in [`unmapped_doid_lex`](unmapped_doid_lex.tsv): 45 + * Number of mappings in [`unmapped_doid_lex_exact`](unmapped_doid_lex.tsv): 14 * Number of mappings in [`unmapped_doid_mondo`](mondo-only/unmapped_doid_mondo.tsv): 34 * Number of mappings in [`unmapped_doid_mondo_exact`](mondo-only/unmapped_doid_mondo.tsv): 34 * Number of mappings in [`unmapped_icd10cm_lex`](unmapped_icd10cm_lex.tsv): 1956 @@ -15,7 +15,7 @@ * Number of mappings in [`unmapped_icd10who_lex_exact`](unmapped_icd10who_lex.tsv): 481 * Number of mappings in [`unmapped_icd10who_mondo`](mondo-only/unmapped_icd10who_mondo.tsv): 2 * Number of mappings in [`unmapped_icd10who_mondo_exact`](mondo-only/unmapped_icd10who_mondo.tsv): 2 - * Number of mappings in [`unmapped_icd11foundation_lex`](unmapped_icd11foundation_lex.tsv): 9764 + * Number of mappings in [`unmapped_icd11foundation_lex`](unmapped_icd11foundation_lex.tsv): 9765 * Number of mappings in [`unmapped_icd11foundation_lex_exact`](unmapped_icd11foundation_lex.tsv): 6086 * Number of mappings in [`unmapped_icd11foundation_mondo`](mondo-only/unmapped_icd11foundation_mondo.tsv): 1 * Number of mappings in [`unmapped_icd11foundation_mondo_exact`](mondo-only/unmapped_icd11foundation_mondo.tsv): 1 @@ -23,36 +23,35 @@ * Number of mappings in [`unmapped_ncit_lex_exact`](unmapped_ncit_lex.tsv): 42 * Number of mappings in [`unmapped_ncit_mondo`](mondo-only/unmapped_ncit_mondo.tsv): 25 * Number of mappings in [`unmapped_ncit_mondo_exact`](mondo-only/unmapped_ncit_mondo.tsv): 22 - * Number of mappings in [`unmapped_omim_lex`](unmapped_omim_lex.tsv): 8 - * Number of mappings in [`unmapped_omim_lex_exact`](unmapped_omim_lex.tsv): 5 - * Number of mappings in [`unmapped_omim_mondo`](mondo-only/unmapped_omim_mondo.tsv): 118 - * Number of mappings in [`unmapped_omim_mondo_exact`](mondo-only/unmapped_omim_mondo.tsv): 118 - * Number of mappings in [`unmapped_ordo_lex`](unmapped_ordo_lex.tsv): 5 - * Number of mappings in [`unmapped_ordo_lex_exact`](unmapped_ordo_lex.tsv): 4 - * Number of mappings in [`unmapped_ordo_mondo`](mondo-only/unmapped_ordo_mondo.tsv): 883 - * Number of mappings in [`unmapped_ordo_mondo_exact`](mondo-only/unmapped_ordo_mondo.tsv): 883 + * Number of mappings in [`unmapped_omim_lex`](unmapped_omim_lex.tsv): 3 + * Number of mappings in [`unmapped_omim_lex_exact`](unmapped_omim_lex.tsv): 1 + * Number of mappings in [`unmapped_omim_mondo`](mondo-only/unmapped_omim_mondo.tsv): 117 + * Number of mappings in [`unmapped_omim_mondo_exact`](mondo-only/unmapped_omim_mondo.tsv): 117 + * Number of mappings in [`unmapped_ordo_lex`](unmapped_ordo_lex.tsv): 1 + * Number of mappings in [`unmapped_ordo_lex_exact`](unmapped_ordo_lex.tsv): 1 + * Number of mappings in [`unmapped_ordo_mondo`](mondo-only/unmapped_ordo_mondo.tsv): 882 + * Number of mappings in [`unmapped_ordo_mondo_exact`](mondo-only/unmapped_ordo_mondo.tsv): 882 ## mondo_XXXXmatch_ontology - * Number of mappings in [`mondo_exactmatch_orphanet`](split-mapping-set/mondo_exactmatch_orphanet.tsv): 886 - * Number of mappings in [`mondo_closematch_orphanet`](split-mapping-set/mondo_closematch_orphanet.tsv): 45 - * Number of mappings in [`mondo_broadmatch_orphanet`](split-mapping-set/mondo_broadmatch_orphanet.tsv): 1 + * Number of mappings in [`mondo_closematch_orphanet`](split-mapping-set/mondo_closematch_orphanet.tsv): 3 + * Number of mappings in [`mondo_exactmatch_orphanet`](split-mapping-set/mondo_exactmatch_orphanet.tsv): 881 + * Number of mappings in [`mondo_closematch_icd10who`](split-mapping-set/mondo_closematch_icd10who.tsv): 147 + * Number of mappings in [`mondo_broadmatch_icd10who`](split-mapping-set/mondo_broadmatch_icd10who.tsv): 30 + * Number of mappings in [`mondo_narrowmatch_icd10who`](split-mapping-set/mondo_narrowmatch_icd10who.tsv): 25 + * Number of mappings in [`mondo_exactmatch_icd10who`](split-mapping-set/mondo_exactmatch_icd10who.tsv): 1224 + * Number of mappings in [`mondo_closematch_doid`](split-mapping-set/mondo_closematch_doid.tsv): 212 * Number of mappings in [`mondo_narrowmatch_doid`](split-mapping-set/mondo_narrowmatch_doid.tsv): 1 - * Number of mappings in [`mondo_exactmatch_doid`](split-mapping-set/mondo_exactmatch_doid.tsv): 63 - * Number of mappings in [`mondo_closematch_doid`](split-mapping-set/mondo_closematch_doid.tsv): 146 - * Number of mappings in [`mondo_exactmatch_omim`](split-mapping-set/mondo_exactmatch_omim.tsv): 115 - * Number of mappings in [`mondo_closematch_omim`](split-mapping-set/mondo_closematch_omim.tsv): 7 - * Number of mappings in [`mondo_exactmatch_icd11.foundation`](split-mapping-set/mondo_exactmatch_icd11.foundation.tsv): 9763 + * Number of mappings in [`mondo_exactmatch_doid`](split-mapping-set/mondo_exactmatch_doid.tsv): 77 * Number of mappings in [`mondo_closematch_icd11.foundation`](split-mapping-set/mondo_closematch_icd11.foundation.tsv): 3152 * Number of mappings in [`mondo_broadmatch_icd11.foundation`](split-mapping-set/mondo_broadmatch_icd11.foundation.tsv): 199 - * Number of mappings in [`mondo_exactmatch_omimps`](split-mapping-set/mondo_exactmatch_omimps.tsv): 9 - * Number of mappings in [`mondo_closematch_omimps`](split-mapping-set/mondo_closematch_omimps.tsv): 6 - * Number of mappings in [`mondo_exactmatch_ncit`](split-mapping-set/mondo_exactmatch_ncit.tsv): 122 + * Number of mappings in [`mondo_exactmatch_icd11.foundation`](split-mapping-set/mondo_exactmatch_icd11.foundation.tsv): 9764 * Number of mappings in [`mondo_closematch_ncit`](split-mapping-set/mondo_closematch_ncit.tsv): 72 * Number of mappings in [`mondo_broadmatch_ncit`](split-mapping-set/mondo_broadmatch_ncit.tsv): 10 - * Number of mappings in [`mondo_narrowmatch_icd10who`](split-mapping-set/mondo_narrowmatch_icd10who.tsv): 25 - * Number of mappings in [`mondo_exactmatch_icd10who`](split-mapping-set/mondo_exactmatch_icd10who.tsv): 1224 - * Number of mappings in [`mondo_closematch_icd10who`](split-mapping-set/mondo_closematch_icd10who.tsv): 147 - * Number of mappings in [`mondo_broadmatch_icd10who`](split-mapping-set/mondo_broadmatch_icd10who.tsv): 30 - * Number of mappings in [`mondo_narrowmatch_icd10cm`](split-mapping-set/mondo_narrowmatch_icd10cm.tsv): 58 - * Number of mappings in [`mondo_exactmatch_icd10cm`](split-mapping-set/mondo_exactmatch_icd10cm.tsv): 1957 + * Number of mappings in [`mondo_exactmatch_ncit`](split-mapping-set/mondo_exactmatch_ncit.tsv): 122 + * Number of mappings in [`mondo_exactmatch_omim`](split-mapping-set/mondo_exactmatch_omim.tsv): 112 * Number of mappings in [`mondo_closematch_icd10cm`](split-mapping-set/mondo_closematch_icd10cm.tsv): 5994 * Number of mappings in [`mondo_broadmatch_icd10cm`](split-mapping-set/mondo_broadmatch_icd10cm.tsv): 69 + * Number of mappings in [`mondo_narrowmatch_icd10cm`](split-mapping-set/mondo_narrowmatch_icd10cm.tsv): 58 + * Number of mappings in [`mondo_exactmatch_icd10cm`](split-mapping-set/mondo_exactmatch_icd10cm.tsv): 1957 + * Number of mappings in [`mondo_closematch_omimps`](split-mapping-set/mondo_closematch_omimps.tsv): 4 + * Number of mappings in [`mondo_broadmatch_omimps`](split-mapping-set/mondo_broadmatch_omimps.tsv): 1 + * Number of mappings in [`mondo_exactmatch_omimps`](split-mapping-set/mondo_exactmatch_omimps.tsv): 6 diff --git a/src/ontology/lexmatch/all_exact.robot.tsv b/src/ontology/lexmatch/all_exact.robot.tsv index 1f5de6f9..b0e7b838 100644 --- a/src/ontology/lexmatch/all_exact.robot.tsv +++ b/src/ontology/lexmatch/all_exact.robot.tsv @@ -1,8 +1,7 @@ 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:0017195 MONDO:equivalentTo OMIMPS:259450 Bruck syndrome Bruck syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bruck syndrome +MONDO:0015991 MONDO:equivalentTo OMIMPS:215700 citrullinemia Citrullinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label citrullinemia 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:0018878 MONDO:equivalentTo OMIMPS:602588 branchiootic syndrome Branchiootic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label branchiootic syndrome 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 @@ -4082,9 +4081,9 @@ MONDO:0957452 MONDO:equivalentTo icd11.foundation:1160127418 segmental arterial MONDO:0958076 MONDO:equivalentTo icd11.foundation:1547705800 myeloschisis Myeloschisis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myeloschisis MONDO:0958083 MONDO:equivalentTo icd11.foundation:1550169484 conjoined twins Conjoined twins semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label conjoined twins MONDO:0958096 MONDO:equivalentTo icd11.foundation:824243127 monomorphic epitheliotropic intestinal T-cell lymphoma Monomorphic epitheliotropic intestinal T-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monomorphic epitheliotropic intestinal t-cell lymphoma +MONDO:0968955 MONDO:equivalentTo icd11.foundation:1793262466 hypocalcified amelogenesis imperfecta Hypocalcified amelogenesis imperfecta semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypocalcified amelogenesis imperfecta MONDO:1010000 MONDO:equivalentTo icd11.foundation:1571230529 pythiosis Pythiosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pythiosis MONDO:8000010 MONDO:equivalentTo icd11.foundation:1173370808 antiphospholipid syndrome Antiphospholipid syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label antiphospholipid syndrome -MONDO:0100491 MONDO:equivalentTo Orphanet:247353 generalized pustular psoriasis Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label generalized pustular psoriasis 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 @@ -4144,6 +4143,8 @@ MONDO:0958164 MONDO:equivalentTo NCIT:C177898 poorly differentiated chordoma Poo MONDO:0958165 MONDO:equivalentTo NCIT:C154496 anaplastic sarcoma of the kidney Anaplastic Sarcoma of the Kidney semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anaplastic sarcoma of the kidney MONDO:0007744 MONDO:equivalentTo DOID:0111368 cholesterol-ester transfer protein deficiency cholesterol-ester transfer protein deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholesterol-ester transfer protein deficiency MONDO:0009619 MONDO:equivalentTo DOID:0081432 microcephaly-micromelia syndrome microcephaly-micromelia syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:251230 +MONDO:0009681 MONDO:equivalentTo DOID:0060946 Ullrich congenital muscular dystrophy 1A Ullrich congenital muscular dystrophy 1A semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:254090 +MONDO:0011610 MONDO:equivalentTo DOID:0081446 dimethylglycine dehydrogenase deficiency dimethylglycine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:605850 MONDO:0013931 MONDO:equivalentTo DOID:0081433 peroxisome biogenesis disorder 4B Peroxisome biogenesis disorder 4B semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:614863 MONDO:0013933 MONDO:equivalentTo DOID:0081434 peroxisome biogenesis disorder 5B Peroxisome biogenesis disorder 5B semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:614867 MONDO:0013937 MONDO:equivalentTo DOID:0081435 peroxisome biogenesis disorder 6B Peroxisome biogenesis disorder 6B semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:614871 @@ -4151,18 +4152,26 @@ MONDO:0013939 MONDO:equivalentTo DOID:0081436 peroxisome biogenesis disorder 7B MONDO:0013943 MONDO:equivalentTo DOID:0081437 peroxisome biogenesis disorder 8B Peroxisome biogenesis disorder 8B semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:614877 MONDO:0013945 MONDO:equivalentTo DOID:0081438 peroxisome biogenesis disorder 9B Peroxisome biogenesis disorder 9B semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:614879 MONDO:0013950 MONDO:equivalentTo DOID:0081439 peroxisome biogenesis disorder 11B Peroxisome biogenesis disorder 11B semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:614885 +MONDO:0014654 MONDO:equivalentTo DOID:0060944 Ullrich congenital muscular dystrophy 2 Ullrich congenital muscular dystrophy 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:616470 +MONDO:0014669 MONDO:equivalentTo DOID:0081447 cone-rod dystrophy 21 cone-rod dystrophy 21 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:616502 +MONDO:0015004 MONDO:equivalentTo DOID:0060936 dystonia 28, childhood-onset dystonia 28, childhood-onset semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617284 +MONDO:0018540 MONDO:equivalentTo DOID:0081451 PFAPA syndrome PFAPA syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pfapa syndrome MONDO:0025691 MONDO:equivalentTo DOID:0060937 dystonia 30 dystonia 30 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619291 +MONDO:0030440 MONDO:equivalentTo DOID:0081448 cone-rod dystrophy 22 cone-rod dystrophy 22 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619531 MONDO:0030455 MONDO:equivalentTo DOID:0060938 dystonia 31 dystonia 31 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619565 MONDO:0030486 MONDO:equivalentTo DOID:0060939 dystonia 32 dystonia 32 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619637 MONDO:0030513 MONDO:equivalentTo DOID:0060940 dystonia 33 dystonia 33 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619687 +MONDO:0030608 MONDO:equivalentTo DOID:0060941 interstitial lung disease 1 interstitial lung disease 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619611 MONDO:0030958 MONDO:equivalentTo DOID:0060955 dystonia 35, childhood-onset dystonia 35, childhood-onset semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619921 MONDO:0054549 MONDO:equivalentTo DOID:0081440 peroxisome biogenesis disorder 10B Peroxisome biogenesis disorder 10B semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617370 MONDO:0060533 MONDO:equivalentTo DOID:0081431 microcephaly, short stature, and limb abnormalities microcephaly, short stature, and limb abnormalities semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617604 MONDO:0859139 MONDO:equivalentTo DOID:0081442 blepharophimosis-impaired intellectual development syndrome blepharophimosis-impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619293 MONDO:0859377 MONDO:equivalentTo DOID:0081444 neurodevelopmental disorder with poor growth and behavioral abnormalities neurodevelopmental disorder with poor growth and behavioral abnormalities semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620242 -MONDO:0859380 MONDO:equivalentTo DOID:0060944 episodic kinesigenic dyskinesia 3 episodic kinesigenic dyskinesia 3 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620245 +MONDO:0957240 MONDO:equivalentTo DOID:0081449 cone-rod dystrophy 24 cone-rod dystrophy 24 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620342 MONDO:0957539 MONDO:equivalentTo DOID:0060966 dystonia 22, juvenile-onset dystonia 22, juvenile-onset semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620453 MONDO:0957542 MONDO:equivalentTo DOID:0060967 dystonia 22, adult-onset dystonia 22, adult-onset semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620456 +MONDO:0958235 MONDO:equivalentTo DOID:0060942 Ullrich congenital muscular dystrophy 1B Ullrich congenital muscular dystrophy 1B semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620727 +MONDO:0958236 MONDO:equivalentTo DOID:0060943 Ullrich congenital muscular dystrophy 1C Ullrich congenital muscular dystrophy 1C semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620728 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 diff --git a/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv b/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv index cc2c0bed..ff214c42 100644 --- a/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv +++ b/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv @@ -33,7 +33,6 @@ MONDO:0010346 obsolete MRX52 OMIM:300504 MONDO:equivalentTo semapv:UnspecifiedM MONDO:0010357 obsolete MRX78 OMIM:300551 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0010387 obsolete invasive pneumococcal disease, recurrent isolated, 2 OMIM:300640 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0010394 obsolete leukoencephalopathy-metaphyseal chondrodysplasia syndrome OMIM:300660 MONDO:equivalentTo semapv:UnspecifiedMatching -MONDO:0010425 Lisch epithelial corneal dystrophy OMIM:300778 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0010470 obsolete Baratela-Scott syndrome OMIM:300881 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0010527 obsolete microphthalmia-ankyloblepharon-intellectual disability syndrome OMIM:301590 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0010601 obsolete gynecomastia, familial OMIM:306500 MONDO:equivalentTo semapv:UnspecifiedMatching diff --git a/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo.tsv b/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo.tsv index 39040982..e8902f35 100644 --- a/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo.tsv +++ b/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo.tsv @@ -315,7 +315,6 @@ MONDO:0017142 obsolete hemorrhagic disorder due to a qualitative platelet defect MONDO:0017143 obsolete genetic infertility Orphanet:275742 MONDO:equivalentTo Genetic infertility semapv:UnspecifiedMatching MONDO:0017158 obsolete pulmonary hypertension with unclear multifactorial mechanism Orphanet:275844 MONDO:equivalentTo Pulmonary hypertension with unclear multifactorial mechanism semapv:UnspecifiedMatching MONDO:0017159 obsolete syndrome with pulmonary hypertension as a major feature Orphanet:275853 MONDO:equivalentTo Syndrome with pulmonary hypertension as a major feature semapv:UnspecifiedMatching -MONDO:0017163 obsolete hemolytic disease due to fetomaternal alloimmunization Orphanet:275938 MONDO:equivalentTo Hemolytic disease due to fetomaternal alloimmunization semapv:UnspecifiedMatching MONDO:0017166 obsolete rare tumor of salivary glands Orphanet:276142 MONDO:equivalentTo Rare tumor of salivary glands semapv:UnspecifiedMatching MONDO:0017234 obsolete inherited prion disease Orphanet:280400 MONDO:equivalentTo Inherited human prion disease semapv:UnspecifiedMatching MONDO:0017259 obsolete systemic diseases with anterior uveitis Orphanet:280926 MONDO:equivalentTo Systemic diseases with anterior uveitis semapv:UnspecifiedMatching diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_omimps.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_omimps.tsv new file mode 100644 index 00000000..4682eabe --- /dev/null +++ b/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_omimps.tsv @@ -0,0 +1,2 @@ +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:0008988 citrullinemia type I skos:broadMatch OMIMPS:215700 Citrullinemia semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label citrullinemia LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_orphanet.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_orphanet.tsv deleted file mode 100644 index 4b81af4e..00000000 --- a/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_orphanet.tsv +++ /dev/null @@ -1,2 +0,0 @@ -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:0007538 amelogenesis imperfecta, type 3A skos:broadMatch Orphanet:100032 Hypocalcified amelogenesis imperfecta semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym amelogenesis imperfecta type 3 LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_doid.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_doid.tsv index 8422251c..b3a89f4a 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_doid.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_doid.tsv @@ -6,6 +6,10 @@ MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:clo MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:closeMatch DOID:2536 chronic inflammatory demyelinating polyneuritis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:d020277 LEXMATCH MONDO:0007495 dystonia 5 skos:closeMatch DOID:0060963 dystonia, DOPA-responsive semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:128230 LEXMATCH MONDO:0007495 dystonia 5 skos:closeMatch DOID:0060963 dystonia, DOPA-responsive semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:128230 LEXMATCH +MONDO:0007495 dystonia 5 skos:closeMatch DOID:0060963 dystonia, DOPA-responsive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dopa-responsive dystonia, autosomal dominant LEXMATCH +MONDO:0007495 dystonia 5 skos:closeMatch DOID:0060963 dystonia, DOPA-responsive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia, dopa-responsive, autosomal dominant LEXMATCH +MONDO:0007495 dystonia 5 skos:closeMatch DOID:0060963 dystonia, DOPA-responsive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia, progressive, with diurnal variation LEXMATCH +MONDO:0007495 dystonia 5 skos:closeMatch DOID:0060963 dystonia, DOPA-responsive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia-parkinsonism with diurnal fluctuation LEXMATCH MONDO:0007495 dystonia 5 skos:closeMatch DOID:0060963 dystonia, DOPA-responsive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia, dopa-responsive LEXMATCH MONDO:0007495 dystonia 5 skos:closeMatch DOID:0060963 dystonia, DOPA-responsive semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:128230 LEXMATCH MONDO:0007495 dystonia 5 skos:closeMatch DOID:0060963 dystonia, DOPA-responsive semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:128230 LEXMATCH @@ -15,6 +19,17 @@ MONDO:0009619 microcephaly-micromelia syndrome skos:closeMatch DOID:0081432 micr MONDO:0009619 microcephaly-micromelia syndrome skos:closeMatch DOID:0081432 microcephaly-micromelia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:251230 LEXMATCH MONDO:0009619 microcephaly-micromelia syndrome skos:closeMatch DOID:0081432 microcephaly-micromelia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:251230 LEXMATCH MONDO:0009619 microcephaly-micromelia syndrome skos:closeMatch DOID:0081432 microcephaly-micromelia syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:251230 LEXMATCH +MONDO:0009681 Ullrich congenital muscular dystrophy 1A skos:closeMatch DOID:0060946 Ullrich congenital muscular dystrophy 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254090 LEXMATCH +MONDO:0009681 Ullrich congenital muscular dystrophy 1A skos:closeMatch DOID:0060946 Ullrich congenital muscular dystrophy 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:254090 LEXMATCH +MONDO:0009681 Ullrich congenital muscular dystrophy 1A skos:closeMatch DOID:0060946 Ullrich congenital muscular dystrophy 1A semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:254090 LEXMATCH +MONDO:0009681 Ullrich congenital muscular dystrophy 1A skos:closeMatch DOID:0060946 Ullrich congenital muscular dystrophy 1A semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:254090 LEXMATCH +MONDO:0009681 Ullrich congenital muscular dystrophy 1A skos:closeMatch DOID:0060946 Ullrich congenital muscular dystrophy 1A semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:254090 LEXMATCH +MONDO:0009849 hyperimmunoglobulinemia D with periodic fever skos:closeMatch DOID:0081450 hyperimmunoglobulinemia D periodic fever syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:2788 LEXMATCH +MONDO:0009849 hyperimmunoglobulinemia D with periodic fever skos:closeMatch DOID:0081450 hyperimmunoglobulinemia D periodic fever syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260920 LEXMATCH +MONDO:0009849 hyperimmunoglobulinemia D with periodic fever skos:closeMatch DOID:0081450 hyperimmunoglobulinemia D periodic fever syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:260920 LEXMATCH +MONDO:0009849 hyperimmunoglobulinemia D with periodic fever skos:closeMatch DOID:0081450 hyperimmunoglobulinemia D periodic fever syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:260920 LEXMATCH +MONDO:0009849 hyperimmunoglobulinemia D with periodic fever skos:closeMatch DOID:0081450 hyperimmunoglobulinemia D periodic fever syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:260920 LEXMATCH +MONDO:0009849 hyperimmunoglobulinemia D with periodic fever skos:closeMatch DOID:0081450 hyperimmunoglobulinemia D periodic fever syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:260920 LEXMATCH MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch DOID:0081441 Nicolaides-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:270 LEXMATCH MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch DOID:0081441 Nicolaides-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601358 LEXMATCH MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch DOID:0081441 Nicolaides-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:601358 LEXMATCH @@ -22,6 +37,16 @@ MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:cl MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch DOID:0081441 Nicolaides-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601358 LEXMATCH MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch DOID:0081441 Nicolaides-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:601358 LEXMATCH MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch DOID:0081441 Nicolaides-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:601358 LEXMATCH +MONDO:0011382 sickle cell anemia skos:closeMatch DOID:0081445 sickle cell disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603903 LEXMATCH +MONDO:0011382 sickle cell anemia skos:closeMatch DOID:0081445 sickle cell disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:603903 LEXMATCH +MONDO:0011382 sickle cell anemia skos:closeMatch DOID:0081445 sickle cell disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:603903 LEXMATCH +MONDO:0011382 sickle cell anemia skos:closeMatch DOID:0081445 sickle cell disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:603903 LEXMATCH +MONDO:0011382 sickle cell anemia skos:closeMatch DOID:0081445 sickle cell disease semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:603903 LEXMATCH +MONDO:0011610 dimethylglycine dehydrogenase deficiency skos:closeMatch DOID:0081446 dimethylglycine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605850 LEXMATCH +MONDO:0011610 dimethylglycine dehydrogenase deficiency skos:closeMatch DOID:0081446 dimethylglycine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:605850 LEXMATCH +MONDO:0011610 dimethylglycine dehydrogenase deficiency skos:closeMatch DOID:0081446 dimethylglycine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605850 LEXMATCH +MONDO:0011610 dimethylglycine dehydrogenase deficiency skos:closeMatch DOID:0081446 dimethylglycine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:605850 LEXMATCH +MONDO:0011610 dimethylglycine dehydrogenase deficiency skos:closeMatch DOID:0081446 dimethylglycine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:605850 LEXMATCH MONDO:0013931 peroxisome biogenesis disorder 4B skos:closeMatch DOID:0081433 Peroxisome biogenesis disorder 4B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614863 LEXMATCH MONDO:0013931 peroxisome biogenesis disorder 4B skos:closeMatch DOID:0081433 Peroxisome biogenesis disorder 4B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:614863 LEXMATCH MONDO:0013931 peroxisome biogenesis disorder 4B skos:closeMatch DOID:0081433 Peroxisome biogenesis disorder 4B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614863 LEXMATCH @@ -57,18 +82,35 @@ MONDO:0013950 peroxisome biogenesis disorder 11B skos:closeMatch DOID:0081439 Pe MONDO:0013950 peroxisome biogenesis disorder 11B skos:closeMatch DOID:0081439 Peroxisome biogenesis disorder 11B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614885 LEXMATCH MONDO:0013950 peroxisome biogenesis disorder 11B skos:closeMatch DOID:0081439 Peroxisome biogenesis disorder 11B semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:614885 LEXMATCH MONDO:0013950 peroxisome biogenesis disorder 11B skos:closeMatch DOID:0081439 Peroxisome biogenesis disorder 11B semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:614885 LEXMATCH -MONDO:0015004 dystonia 28, childhood-onset skos:closeMatch DOID:0060936 dystonia 28 childhood-onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617284 LEXMATCH -MONDO:0015004 dystonia 28, childhood-onset skos:closeMatch DOID:0060936 dystonia 28 childhood-onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c4310633 LEXMATCH -MONDO:0015004 dystonia 28, childhood-onset skos:closeMatch DOID:0060936 dystonia 28 childhood-onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617284 LEXMATCH -MONDO:0015004 dystonia 28, childhood-onset skos:closeMatch DOID:0060936 dystonia 28 childhood-onset semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617284 LEXMATCH -MONDO:0015004 dystonia 28, childhood-onset skos:closeMatch DOID:0060936 dystonia 28 childhood-onset semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref umls:c4310633 LEXMATCH -MONDO:0015004 dystonia 28, childhood-onset skos:closeMatch DOID:0060936 dystonia 28 childhood-onset semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617284 LEXMATCH -MONDO:0015004 dystonia 28, childhood-onset skos:closeMatch DOID:0060936 dystonia 28 childhood-onset semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:617284 LEXMATCH +MONDO:0014654 Ullrich congenital muscular dystrophy 2 skos:closeMatch DOID:0060944 Ullrich congenital muscular dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616470 LEXMATCH +MONDO:0014654 Ullrich congenital muscular dystrophy 2 skos:closeMatch DOID:0060944 Ullrich congenital muscular dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:616470 LEXMATCH +MONDO:0014654 Ullrich congenital muscular dystrophy 2 skos:closeMatch DOID:0060944 Ullrich congenital muscular dystrophy 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616470 LEXMATCH +MONDO:0014654 Ullrich congenital muscular dystrophy 2 skos:closeMatch DOID:0060944 Ullrich congenital muscular dystrophy 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:616470 LEXMATCH +MONDO:0014654 Ullrich congenital muscular dystrophy 2 skos:closeMatch DOID:0060944 Ullrich congenital muscular dystrophy 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:616470 LEXMATCH +MONDO:0014669 cone-rod dystrophy 21 skos:closeMatch DOID:0081447 cone-rod dystrophy 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616502 LEXMATCH +MONDO:0014669 cone-rod dystrophy 21 skos:closeMatch DOID:0081447 cone-rod dystrophy 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:616502 LEXMATCH +MONDO:0014669 cone-rod dystrophy 21 skos:closeMatch DOID:0081447 cone-rod dystrophy 21 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616502 LEXMATCH +MONDO:0014669 cone-rod dystrophy 21 skos:closeMatch DOID:0081447 cone-rod dystrophy 21 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:616502 LEXMATCH +MONDO:0014669 cone-rod dystrophy 21 skos:closeMatch DOID:0081447 cone-rod dystrophy 21 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:616502 LEXMATCH +MONDO:0015004 dystonia 28, childhood-onset skos:closeMatch DOID:0060936 dystonia 28, childhood-onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617284 LEXMATCH +MONDO:0015004 dystonia 28, childhood-onset skos:closeMatch DOID:0060936 dystonia 28, childhood-onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c4310633 LEXMATCH +MONDO:0015004 dystonia 28, childhood-onset skos:closeMatch DOID:0060936 dystonia 28, childhood-onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617284 LEXMATCH +MONDO:0015004 dystonia 28, childhood-onset skos:closeMatch DOID:0060936 dystonia 28, childhood-onset semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617284 LEXMATCH +MONDO:0015004 dystonia 28, childhood-onset skos:closeMatch DOID:0060936 dystonia 28, childhood-onset semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref umls:c4310633 LEXMATCH +MONDO:0015004 dystonia 28, childhood-onset skos:closeMatch DOID:0060936 dystonia 28, childhood-onset semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617284 LEXMATCH +MONDO:0015004 dystonia 28, childhood-onset skos:closeMatch DOID:0060936 dystonia 28, childhood-onset semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:617284 LEXMATCH +MONDO:0018540 PFAPA syndrome skos:closeMatch DOID:0081451 PFAPA syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:5657 LEXMATCH +MONDO:0019507 amelogenesis imperfecta skos:closeMatch DOID:0060945 amelogenesis imperfecta type 1K semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:5791 LEXMATCH MONDO:0025691 dystonia 30 skos:closeMatch DOID:0060937 dystonia 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619291 LEXMATCH MONDO:0025691 dystonia 30 skos:closeMatch DOID:0060937 dystonia 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619291 LEXMATCH MONDO:0025691 dystonia 30 skos:closeMatch DOID:0060937 dystonia 30 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619291 LEXMATCH MONDO:0025691 dystonia 30 skos:closeMatch DOID:0060937 dystonia 30 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619291 LEXMATCH MONDO:0025691 dystonia 30 skos:closeMatch DOID:0060937 dystonia 30 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619291 LEXMATCH +MONDO:0030440 cone-rod dystrophy 22 skos:closeMatch DOID:0081448 cone-rod dystrophy 22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619531 LEXMATCH +MONDO:0030440 cone-rod dystrophy 22 skos:closeMatch DOID:0081448 cone-rod dystrophy 22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619531 LEXMATCH +MONDO:0030440 cone-rod dystrophy 22 skos:closeMatch DOID:0081448 cone-rod dystrophy 22 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619531 LEXMATCH +MONDO:0030440 cone-rod dystrophy 22 skos:closeMatch DOID:0081448 cone-rod dystrophy 22 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619531 LEXMATCH +MONDO:0030440 cone-rod dystrophy 22 skos:closeMatch DOID:0081448 cone-rod dystrophy 22 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619531 LEXMATCH MONDO:0030455 dystonia 31 skos:closeMatch DOID:0060938 dystonia 31 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619565 LEXMATCH MONDO:0030455 dystonia 31 skos:closeMatch DOID:0060938 dystonia 31 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619565 LEXMATCH MONDO:0030455 dystonia 31 skos:closeMatch DOID:0060938 dystonia 31 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619565 LEXMATCH @@ -89,11 +131,21 @@ MONDO:0030538 dystonia 34, myoclonic skos:closeMatch DOID:0060957 myoclonic dyst MONDO:0030538 dystonia 34, myoclonic skos:closeMatch DOID:0060957 myoclonic dystonia 34 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619724 LEXMATCH MONDO:0030538 dystonia 34, myoclonic skos:closeMatch DOID:0060957 myoclonic dystonia 34 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619724 LEXMATCH MONDO:0030538 dystonia 34, myoclonic skos:closeMatch DOID:0060957 myoclonic dystonia 34 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619724 LEXMATCH +MONDO:0030608 interstitial lung disease 1 skos:closeMatch DOID:0060941 interstitial lung disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619611 LEXMATCH +MONDO:0030608 interstitial lung disease 1 skos:closeMatch DOID:0060941 interstitial lung disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619611 LEXMATCH +MONDO:0030608 interstitial lung disease 1 skos:closeMatch DOID:0060941 interstitial lung disease 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619611 LEXMATCH +MONDO:0030608 interstitial lung disease 1 skos:closeMatch DOID:0060941 interstitial lung disease 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619611 LEXMATCH +MONDO:0030608 interstitial lung disease 1 skos:closeMatch DOID:0060941 interstitial lung disease 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619611 LEXMATCH MONDO:0030958 dystonia 35, childhood-onset skos:closeMatch DOID:0060955 dystonia 35, childhood-onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619921 LEXMATCH MONDO:0030958 dystonia 35, childhood-onset skos:closeMatch DOID:0060955 dystonia 35, childhood-onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619921 LEXMATCH MONDO:0030958 dystonia 35, childhood-onset skos:closeMatch DOID:0060955 dystonia 35, childhood-onset semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619921 LEXMATCH MONDO:0030958 dystonia 35, childhood-onset skos:closeMatch DOID:0060955 dystonia 35, childhood-onset semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619921 LEXMATCH MONDO:0030958 dystonia 35, childhood-onset skos:closeMatch DOID:0060955 dystonia 35, childhood-onset semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619921 LEXMATCH +MONDO:0031084 amelogenesis imperfecta, IIa 1K skos:closeMatch DOID:0060945 amelogenesis imperfecta type 1K semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620104 LEXMATCH +MONDO:0031084 amelogenesis imperfecta, IIa 1K skos:closeMatch DOID:0060945 amelogenesis imperfecta type 1K semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620104 LEXMATCH +MONDO:0031084 amelogenesis imperfecta, IIa 1K skos:closeMatch DOID:0060945 amelogenesis imperfecta type 1K semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620104 LEXMATCH +MONDO:0031084 amelogenesis imperfecta, IIa 1K skos:closeMatch DOID:0060945 amelogenesis imperfecta type 1K semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620104 LEXMATCH +MONDO:0031084 amelogenesis imperfecta, IIa 1K skos:closeMatch DOID:0060945 amelogenesis imperfecta type 1K semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620104 LEXMATCH MONDO:0032790 neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities skos:closeMatch DOID:0081443 Stolerman neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618505 LEXMATCH MONDO:0032790 neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities skos:closeMatch DOID:0081443 Stolerman neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618505 LEXMATCH MONDO:0032790 neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities skos:closeMatch DOID:0081443 Stolerman neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618505 LEXMATCH @@ -115,6 +167,7 @@ MONDO:0060533 microcephaly, short stature, and limb abnormalities skos:closeMatc MONDO:0060533 microcephaly, short stature, and limb abnormalities skos:closeMatch DOID:0081431 microcephaly, short stature, and limb abnormalities semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617604 LEXMATCH MONDO:0060533 microcephaly, short stature, and limb abnormalities skos:closeMatch DOID:0081431 microcephaly, short stature, and limb abnormalities semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617604 LEXMATCH MONDO:0060533 microcephaly, short stature, and limb abnormalities skos:closeMatch DOID:0081431 microcephaly, short stature, and limb abnormalities semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:617604 LEXMATCH +MONDO:0800029 interstitial lung disease 2 skos:closeMatch DOID:0060941 interstitial lung disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:8609 LEXMATCH MONDO:0859139 blepharophimosis-impaired intellectual development syndrome skos:closeMatch DOID:0081442 blepharophimosis-impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619293 LEXMATCH MONDO:0859139 blepharophimosis-impaired intellectual development syndrome skos:closeMatch DOID:0081442 blepharophimosis-impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619293 LEXMATCH MONDO:0859139 blepharophimosis-impaired intellectual development syndrome skos:closeMatch DOID:0081442 blepharophimosis-impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619293 LEXMATCH @@ -125,11 +178,11 @@ MONDO:0859377 neurodevelopmental disorder with poor growth and behavioral abnorm MONDO:0859377 neurodevelopmental disorder with poor growth and behavioral abnormalities skos:closeMatch DOID:0081444 neurodevelopmental disorder with poor growth and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620242 LEXMATCH MONDO:0859377 neurodevelopmental disorder with poor growth and behavioral abnormalities skos:closeMatch DOID:0081444 neurodevelopmental disorder with poor growth and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620242 LEXMATCH MONDO:0859377 neurodevelopmental disorder with poor growth and behavioral abnormalities skos:closeMatch DOID:0081444 neurodevelopmental disorder with poor growth and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620242 LEXMATCH -MONDO:0859380 episodic kinesigenic dyskinesia 3 skos:closeMatch DOID:0060944 episodic kinesigenic dyskinesia 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620245 LEXMATCH -MONDO:0859380 episodic kinesigenic dyskinesia 3 skos:closeMatch DOID:0060944 episodic kinesigenic dyskinesia 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620245 LEXMATCH -MONDO:0859380 episodic kinesigenic dyskinesia 3 skos:closeMatch DOID:0060944 episodic kinesigenic dyskinesia 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620245 LEXMATCH -MONDO:0859380 episodic kinesigenic dyskinesia 3 skos:closeMatch DOID:0060944 episodic kinesigenic dyskinesia 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620245 LEXMATCH -MONDO:0859380 episodic kinesigenic dyskinesia 3 skos:closeMatch DOID:0060944 episodic kinesigenic dyskinesia 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620245 LEXMATCH +MONDO:0957240 cone-rod dystrophy 24 skos:closeMatch DOID:0081449 cone-rod dystrophy 24 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620342 LEXMATCH +MONDO:0957240 cone-rod dystrophy 24 skos:closeMatch DOID:0081449 cone-rod dystrophy 24 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620342 LEXMATCH +MONDO:0957240 cone-rod dystrophy 24 skos:closeMatch DOID:0081449 cone-rod dystrophy 24 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620342 LEXMATCH +MONDO:0957240 cone-rod dystrophy 24 skos:closeMatch DOID:0081449 cone-rod dystrophy 24 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620342 LEXMATCH +MONDO:0957240 cone-rod dystrophy 24 skos:closeMatch DOID:0081449 cone-rod dystrophy 24 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620342 LEXMATCH MONDO:0957385 dystonia 37, early-onset, with striatal lesions skos:closeMatch DOID:0060956 dystonia 37, early-onset with striatal lesions semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620427 LEXMATCH MONDO:0957385 dystonia 37, early-onset, with striatal lesions skos:closeMatch DOID:0060956 dystonia 37, early-onset with striatal lesions semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620427 LEXMATCH MONDO:0957385 dystonia 37, early-onset, with striatal lesions skos:closeMatch DOID:0060956 dystonia 37, early-onset with striatal lesions semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620427 LEXMATCH @@ -145,3 +198,16 @@ MONDO:0957542 dystonia 22, adult-onset skos:closeMatch DOID:0060967 dystonia 22, MONDO:0957542 dystonia 22, adult-onset skos:closeMatch DOID:0060967 dystonia 22, adult-onset semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620456 LEXMATCH MONDO:0957542 dystonia 22, adult-onset skos:closeMatch DOID:0060967 dystonia 22, adult-onset semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620456 LEXMATCH MONDO:0957542 dystonia 22, adult-onset skos:closeMatch DOID:0060967 dystonia 22, adult-onset semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620456 LEXMATCH +MONDO:0958235 Ullrich congenital muscular dystrophy 1B skos:closeMatch DOID:0060942 Ullrich congenital muscular dystrophy 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620727 LEXMATCH +MONDO:0958235 Ullrich congenital muscular dystrophy 1B skos:closeMatch DOID:0060942 Ullrich congenital muscular dystrophy 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620727 LEXMATCH +MONDO:0958235 Ullrich congenital muscular dystrophy 1B skos:closeMatch DOID:0060942 Ullrich congenital muscular dystrophy 1B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620727 LEXMATCH +MONDO:0958235 Ullrich congenital muscular dystrophy 1B skos:closeMatch DOID:0060942 Ullrich congenital muscular dystrophy 1B semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620727 LEXMATCH +MONDO:0958235 Ullrich congenital muscular dystrophy 1B skos:closeMatch DOID:0060942 Ullrich congenital muscular dystrophy 1B semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620727 LEXMATCH +MONDO:0958236 Ullrich congenital muscular dystrophy 1C skos:closeMatch DOID:0060943 Ullrich congenital muscular dystrophy 1C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620728 LEXMATCH +MONDO:0958236 Ullrich congenital muscular dystrophy 1C skos:closeMatch DOID:0060943 Ullrich congenital muscular dystrophy 1C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620728 LEXMATCH +MONDO:0958236 Ullrich congenital muscular dystrophy 1C skos:closeMatch DOID:0060943 Ullrich congenital muscular dystrophy 1C semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620728 LEXMATCH +MONDO:0958236 Ullrich congenital muscular dystrophy 1C skos:closeMatch DOID:0060943 Ullrich congenital muscular dystrophy 1C semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620728 LEXMATCH +MONDO:0958236 Ullrich congenital muscular dystrophy 1C skos:closeMatch DOID:0060943 Ullrich congenital muscular dystrophy 1C semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620728 LEXMATCH +MONDO:0968944 intellectual developmental disorder, autosomal recessive 82 skos:closeMatch DOID:0060947 autosomal recessive intellectual developmental disorder 82 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620779 LEXMATCH +MONDO:0968944 intellectual developmental disorder, autosomal recessive 82 skos:closeMatch DOID:0060947 autosomal recessive intellectual developmental disorder 82 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620779 LEXMATCH +MONDO:0968944 intellectual developmental disorder, autosomal recessive 82 skos:closeMatch DOID:0060947 autosomal recessive intellectual developmental disorder 82 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620779 LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd11.foundation.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd11.foundation.tsv index afc22e12..4bb46596 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd11.foundation.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd11.foundation.tsv @@ -725,7 +725,7 @@ MONDO:0007737 humeroradial synostosis skos:closeMatch icd11.foundation:518723993 MONDO:0007737 humeroradial synostosis skos:closeMatch icd11.foundation:518723993 Humero-radial synostosis semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007737 LEXMATCH MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations skos:closeMatch icd11.foundation:2065919805 Spondyloepiphyseal dysplasia, Omani type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepiphyseal dysplasia, omani type LEXMATCH MONDO:0007739 Huntington disease skos:closeMatch icd11.foundation:2132180242 Huntington disease semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0007739 LEXMATCH -MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch icd11.foundation:1481454585 Diffuse non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tylosis LEXMATCH +MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 skos:closeMatch icd11.foundation:1481454585 Diffuse non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tylosis LEXMATCH MONDO:0007762 hyperlipoproteinemia type V skos:closeMatch icd11.foundation:405028062 Mixed hyperlipidaemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mixed hyperlipemia LEXMATCH MONDO:0007763 nonpapillary renal cell carcinoma skos:closeMatch icd11.foundation:1231532708 Renal cell carcinoma, unclassified semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypernephroma LEXMATCH MONDO:0007790 Charcot-Marie-Tooth disease type 3 skos:closeMatch icd11.foundation:418660830 Dejerine-Sottas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrophic neuropathy of infancy LEXMATCH @@ -2146,7 +2146,7 @@ MONDO:0017795 ameloblastoma skos:closeMatch icd11.foundation:358045290 Adenomato MONDO:0017795 ameloblastoma skos:closeMatch icd11.foundation:358045290 Adenomatoid odontogenic tumour semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adenomatoid odontogenic tumour LEXMATCH MONDO:0017799 Meigs syndrome skos:closeMatch icd11.foundation:1050919535 Meigs' syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017799 LEXMATCH MONDO:0017827 malignant peripheral nerve sheath tumor skos:closeMatch icd11.foundation:71413945 Malignant peripheral nerve sheath tumour of cranial or paraspinal nerves semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017827 LEXMATCH -MONDO:0017832 mycobacterium xenopi infection skos:closeMatch icd11.foundation:1520758575 Mycobacterium xenopi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mycobacterium xenopi LEXMATCH +MONDO:0017832 Mycobacterium xenopi infection skos:closeMatch icd11.foundation:1520758575 Mycobacterium xenopi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mycobacterium xenopi LEXMATCH MONDO:0017843 congenital pulmonary sequestration skos:closeMatch icd11.foundation:1833083626 Congenital sequestration of lung semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017843 LEXMATCH MONDO:0017844 Sezary syndrome skos:closeMatch icd11.foundation:1358020385 Szary syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017844 LEXMATCH MONDO:0017850 sirenomelia skos:closeMatch icd11.foundation:473306797 Sirenomelia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0017850 LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_omim.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_omim.tsv deleted file mode 100644 index 1c7d3731..00000000 --- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_omim.tsv +++ /dev/null @@ -1,8 +0,0 @@ -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:0010425 Lisch epithelial corneal dystrophy skos:closeMatch OMIM:620763 corneal dystrophy, lisch epithelial semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0060450 LEXMATCH -MONDO:0010425 Lisch epithelial corneal dystrophy skos:closeMatch OMIM:620763 corneal dystrophy, lisch epithelial semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE doid:0060450 LEXMATCH -MONDO:0010425 Lisch epithelial corneal dystrophy skos:closeMatch OMIM:620763 corneal dystrophy, lisch epithelial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym band-shaped and whorled microcystic corneal epithelial dystrophy LEXMATCH -MONDO:0010425 Lisch epithelial corneal dystrophy skos:closeMatch OMIM:620763 corneal dystrophy, lisch epithelial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, lisch epithelial LEXMATCH -MONDO:0010425 Lisch epithelial corneal dystrophy skos:closeMatch OMIM:620763 corneal dystrophy, lisch epithelial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, lisch epithelial LEXMATCH -MONDO:0010425 Lisch epithelial corneal dystrophy skos:closeMatch OMIM:620763 corneal dystrophy, lisch epithelial semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0060450 LEXMATCH -MONDO:0010425 Lisch epithelial corneal dystrophy skos:closeMatch OMIM:620763 corneal dystrophy, lisch epithelial semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE doid:0060450 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 4be95770..4901dc4a 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_omimps.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_omimps.tsv @@ -1,6 +1,4 @@ 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:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch OMIMPS:144200 Palmoplantar keratoderma, epidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label palmoplantar keratoderma, epidermolytic LEXMATCH -MONDO:0009071 hereditary renal hypouricemia skos:closeMatch OMIMPS:220150 Hypouricemia, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypouricemia, renal LEXMATCH MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch OMIMPS:151623 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:3012 LEXMATCH MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch OMIMPS:151623 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE doid:3012 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 diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_orphanet.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_orphanet.tsv index c8221ae1..0ae58a69 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_orphanet.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_orphanet.tsv @@ -1,46 +1,4 @@ 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:0002013 lymphangioma skos:closeMatch Orphanet:2415 Rare lymphatic malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:9789 LEXMATCH -MONDO:0007538 amelogenesis imperfecta, type 3A skos:closeMatch Orphanet:100032 Hypocalcified amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c562880 LEXMATCH -MONDO:0007538 amelogenesis imperfecta, type 3A skos:closeMatch Orphanet:100032 Hypocalcified amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130900 LEXMATCH -MONDO:0007538 amelogenesis imperfecta, type 3A skos:closeMatch Orphanet:100032 Hypocalcified amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c562880 LEXMATCH -MONDO:0007538 amelogenesis imperfecta, type 3A skos:closeMatch Orphanet:100032 Hypocalcified amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:130900 LEXMATCH -MONDO:0007538 amelogenesis imperfecta, type 3A skos:closeMatch Orphanet:100032 Hypocalcified amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:130900 LEXMATCH MONDO:0008302 centra precocious puberty 1 skos:closeMatch Orphanet:650097 Genetic central precocious puberty in male semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176400 LEXMATCH MONDO:0008302 centra precocious puberty 1 skos:closeMatch Orphanet:650097 Genetic central precocious puberty in male semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:176400 LEXMATCH MONDO:0008302 centra precocious puberty 1 skos:closeMatch Orphanet:650097 Genetic central precocious puberty in male semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:176400 LEXMATCH -MONDO:0009349 holoprosencephaly 1 skos:closeMatch Orphanet:268936 Isolated arhinencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20979 LEXMATCH -MONDO:0009349 holoprosencephaly 1 skos:closeMatch Orphanet:268936 Isolated arhinencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated arhinencephaly LEXMATCH -MONDO:0009681 Ullrich congenital muscular dystrophy 1A skos:closeMatch Orphanet:646113 Intermediate collagen VI-related muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254090 LEXMATCH -MONDO:0009681 Ullrich congenital muscular dystrophy 1A skos:closeMatch Orphanet:646113 Intermediate collagen VI-related muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:254090 LEXMATCH -MONDO:0009681 Ullrich congenital muscular dystrophy 1A skos:closeMatch Orphanet:646113 Intermediate collagen VI-related muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:254090 LEXMATCH -MONDO:0013626 psoriasis 14, pustular skos:closeMatch Orphanet:163931 Acrodermatitis continua of Hallopeau semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0392439 LEXMATCH -MONDO:0013626 psoriasis 14, pustular skos:closeMatch Orphanet:163931 Acrodermatitis continua of Hallopeau semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:20052 LEXMATCH -MONDO:0013626 psoriasis 14, pustular skos:closeMatch Orphanet:163931 Acrodermatitis continua of Hallopeau semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref umls:c0392439 LEXMATCH -MONDO:0013626 psoriasis 14, pustular skos:closeMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614204 LEXMATCH -MONDO:0013626 psoriasis 14, pustular skos:closeMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE gard:12819 LEXMATCH -MONDO:0013626 psoriasis 14, pustular skos:closeMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:614204 LEXMATCH -MONDO:0013626 psoriasis 14, pustular skos:closeMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label generalized pustular psoriasis LEXMATCH -MONDO:0013626 psoriasis 14, pustular skos:closeMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614204 LEXMATCH -MONDO:0013626 psoriasis 14, pustular skos:closeMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:614204 LEXMATCH -MONDO:0013626 psoriasis 14, pustular skos:closeMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:614204 LEXMATCH -MONDO:0013626 psoriasis 14, pustular skos:closeMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch-INVERSE omim:614204 LEXMATCH -MONDO:0014494 psoriasis 15, pustular, susceptibility to skos:closeMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616106 LEXMATCH -MONDO:0014494 psoriasis 15, pustular, susceptibility to skos:closeMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16059 LEXMATCH -MONDO:0014494 psoriasis 15, pustular, susceptibility to skos:closeMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE omim:616106 LEXMATCH -MONDO:0014494 psoriasis 15, pustular, susceptibility to skos:closeMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616106 LEXMATCH -MONDO:0014494 psoriasis 15, pustular, susceptibility to skos:closeMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE omim:616106 LEXMATCH -MONDO:0014494 psoriasis 15, pustular, susceptibility to skos:closeMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:616106 LEXMATCH -MONDO:0014494 psoriasis 15, pustular, susceptibility to skos:closeMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch-INVERSE omim:616106 LEXMATCH -MONDO:0014540 amelogenesis imperfecta type 1H skos:closeMatch Orphanet:100032 Hypocalcified amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616221 LEXMATCH -MONDO:0014540 amelogenesis imperfecta type 1H skos:closeMatch Orphanet:100032 Hypocalcified amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:16071 LEXMATCH -MONDO:0014540 amelogenesis imperfecta type 1H skos:closeMatch Orphanet:100032 Hypocalcified amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616221 LEXMATCH -MONDO:0014540 amelogenesis imperfecta type 1H skos:closeMatch Orphanet:100032 Hypocalcified amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:616221 LEXMATCH -MONDO:0021547 amelogenesis imperfecta type 3B skos:closeMatch Orphanet:100032 Hypocalcified amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617607 LEXMATCH -MONDO:0021547 amelogenesis imperfecta type 3B skos:closeMatch Orphanet:100032 Hypocalcified amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:broadMatch-INVERSE gard:18258 LEXMATCH -MONDO:0021547 amelogenesis imperfecta type 3B skos:closeMatch Orphanet:100032 Hypocalcified amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617607 LEXMATCH -MONDO:0021547 amelogenesis imperfecta type 3B skos:closeMatch Orphanet:100032 Hypocalcified amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617607 LEXMATCH -MONDO:0024530 Bethlem myopathy 1A skos:closeMatch Orphanet:646113 Intermediate collagen VI-related muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158810 LEXMATCH -MONDO:0024530 Bethlem myopathy 1A skos:closeMatch Orphanet:646113 Intermediate collagen VI-related muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:158810 LEXMATCH -MONDO:0024530 Bethlem myopathy 1A skos:closeMatch Orphanet:646113 Intermediate collagen VI-related muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:158810 LEXMATCH -MONDO:0100491 generalized pustular psoriasis skos:closeMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343055 LEXMATCH -MONDO:0100491 generalized pustular psoriasis skos:closeMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref umls:c0343055 LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv index a00d2ad8..3df8b33c 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv @@ -27,7 +27,11 @@ MONDO:0007495 dystonia 5 skos:exactMatch DOID:0060963 dystonia, DOPA-responsive MONDO:0007744 cholesterol-ester transfer protein deficiency skos:exactMatch DOID:0111368 cholesterol-ester transfer protein deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholesterol-ester transfer protein deficiency LEXMATCH MONDO:0009619 microcephaly-micromelia syndrome skos:exactMatch DOID:0081432 microcephaly-micromelia syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:251230 LEXMATCH MONDO:0009669 spinal muscular atrophy, type 1 skos:exactMatch DOID:0060160 childhood spinal muscular atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym survival motor neuron spinal muscular atrophy LEXMATCH +MONDO:0009681 Ullrich congenital muscular dystrophy 1A skos:exactMatch DOID:0060946 Ullrich congenital muscular dystrophy 1A semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:254090 LEXMATCH +MONDO:0009849 hyperimmunoglobulinemia D with periodic fever skos:exactMatch DOID:0081450 hyperimmunoglobulinemia D periodic fever syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:260920 LEXMATCH MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:exactMatch DOID:0081441 Nicolaides-Baraitser syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:601358 LEXMATCH +MONDO:0011382 sickle cell anemia skos:exactMatch DOID:0081445 sickle cell disease semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:603903 LEXMATCH +MONDO:0011610 dimethylglycine dehydrogenase deficiency skos:exactMatch DOID:0081446 dimethylglycine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:605850 LEXMATCH MONDO:0012144 Waardenburg syndrome type 2D skos:exactMatch DOID:0110952 obsolete Waardenburg syndrome type 2D semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013931 peroxisome biogenesis disorder 4B skos:exactMatch DOID:0081433 Peroxisome biogenesis disorder 4B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:614863 LEXMATCH MONDO:0013933 peroxisome biogenesis disorder 5B skos:exactMatch DOID:0081434 Peroxisome biogenesis disorder 5B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:614867 LEXMATCH @@ -36,18 +40,24 @@ MONDO:0013939 peroxisome biogenesis disorder 7B skos:exactMatch DOID:0081436 Per MONDO:0013943 peroxisome biogenesis disorder 8B skos:exactMatch DOID:0081437 Peroxisome biogenesis disorder 8B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:614877 LEXMATCH MONDO:0013945 peroxisome biogenesis disorder 9B skos:exactMatch DOID:0081438 Peroxisome biogenesis disorder 9B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:614879 LEXMATCH MONDO:0013950 peroxisome biogenesis disorder 11B skos:exactMatch DOID:0081439 Peroxisome biogenesis disorder 11B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:614885 LEXMATCH -MONDO:0015004 dystonia 28, childhood-onset skos:exactMatch DOID:0060936 dystonia 28 childhood-onset semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617284 LEXMATCH +MONDO:0014654 Ullrich congenital muscular dystrophy 2 skos:exactMatch DOID:0060944 Ullrich congenital muscular dystrophy 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:616470 LEXMATCH +MONDO:0014669 cone-rod dystrophy 21 skos:exactMatch DOID:0081447 cone-rod dystrophy 21 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:616502 LEXMATCH +MONDO:0015004 dystonia 28, childhood-onset skos:exactMatch DOID:0060936 dystonia 28, childhood-onset semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617284 LEXMATCH MONDO:0017841 obsolete autoimmune disease with skin involvement skos:exactMatch DOID:0060039 autoimmune disease of skin and connective tissue semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency skos:exactMatch DOID:0050594 glycogen storage disease IX semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018540 PFAPA syndrome skos:exactMatch DOID:0081451 PFAPA syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pfapa syndrome LEXMATCH MONDO:0021199 obsolete disease by anatomical system skos:exactMatch DOID:7 disease of anatomical entity semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0021668 obsolete disorder involving pain skos:exactMatch DOID:0060164 pain disorder semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0024657 obsolete macrocystic neurilemmoma skos:exactMatch DOID:3203 macrocystic neurilemmoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0025691 dystonia 30 skos:exactMatch DOID:0060937 dystonia 30 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619291 LEXMATCH +MONDO:0030440 cone-rod dystrophy 22 skos:exactMatch DOID:0081448 cone-rod dystrophy 22 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619531 LEXMATCH MONDO:0030455 dystonia 31 skos:exactMatch DOID:0060938 dystonia 31 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619565 LEXMATCH MONDO:0030486 dystonia 32 skos:exactMatch DOID:0060939 dystonia 32 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619637 LEXMATCH MONDO:0030513 dystonia 33 skos:exactMatch DOID:0060940 dystonia 33 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619687 LEXMATCH MONDO:0030538 dystonia 34, myoclonic skos:exactMatch DOID:0060957 myoclonic dystonia 34 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619724 LEXMATCH +MONDO:0030608 interstitial lung disease 1 skos:exactMatch DOID:0060941 interstitial lung disease 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619611 LEXMATCH MONDO:0030958 dystonia 35, childhood-onset skos:exactMatch DOID:0060955 dystonia 35, childhood-onset semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619921 LEXMATCH +MONDO:0031084 amelogenesis imperfecta, IIa 1K skos:exactMatch DOID:0060945 amelogenesis imperfecta type 1K semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620104 LEXMATCH MONDO:0032790 neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities skos:exactMatch DOID:0081443 Stolerman neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618505 LEXMATCH MONDO:0032849 neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies skos:exactMatch DOID:0070539 Halperin-Birk syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618651 LEXMATCH MONDO:0035534 DONSON-related microcephaly-short stature-limb abnormalities spectrum skos:exactMatch DOID:0081431 microcephaly, short stature, and limb abnormalities semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym donson-related microcephaly-short stature-limb abnormalities spectrum LEXMATCH @@ -56,9 +66,13 @@ MONDO:0060533 microcephaly, short stature, and limb abnormalities skos:exactMatc MONDO:0100140 obsolete mild COVID-19 infection skos:exactMatch DOID:0081014 non-severe COVID-19 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0100142 obsolete severe COVID-19 infection skos:exactMatch DOID:0081013 severe COVID-19 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0100143 obsolete critical COVID-19 infection skos:exactMatch DOID:0081012 critical COVID-19 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0800029 interstitial lung disease 2 skos:exactMatch DOID:0060941 interstitial lung disease 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic pulmonary fibrosis LEXMATCH MONDO:0859139 blepharophimosis-impaired intellectual development syndrome skos:exactMatch DOID:0081442 blepharophimosis-impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619293 LEXMATCH MONDO:0859377 neurodevelopmental disorder with poor growth and behavioral abnormalities skos:exactMatch DOID:0081444 neurodevelopmental disorder with poor growth and behavioral abnormalities semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620242 LEXMATCH -MONDO:0859380 episodic kinesigenic dyskinesia 3 skos:exactMatch DOID:0060944 episodic kinesigenic dyskinesia 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620245 LEXMATCH +MONDO:0957240 cone-rod dystrophy 24 skos:exactMatch DOID:0081449 cone-rod dystrophy 24 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620342 LEXMATCH MONDO:0957385 dystonia 37, early-onset, with striatal lesions skos:exactMatch DOID:0060956 dystonia 37, early-onset with striatal lesions semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620427 LEXMATCH MONDO:0957539 dystonia 22, juvenile-onset skos:exactMatch DOID:0060966 dystonia 22, juvenile-onset semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620453 LEXMATCH MONDO:0957542 dystonia 22, adult-onset skos:exactMatch DOID:0060967 dystonia 22, adult-onset semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620456 LEXMATCH +MONDO:0958235 Ullrich congenital muscular dystrophy 1B skos:exactMatch DOID:0060942 Ullrich congenital muscular dystrophy 1B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620727 LEXMATCH +MONDO:0958236 Ullrich congenital muscular dystrophy 1C skos:exactMatch DOID:0060943 Ullrich congenital muscular dystrophy 1C semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620728 LEXMATCH +MONDO:0968944 intellectual developmental disorder, autosomal recessive 82 skos:exactMatch DOID:0060947 autosomal recessive intellectual developmental disorder 82 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620779 LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10cm.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10cm.tsv index 83f5ad6d..69df9105 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10cm.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10cm.tsv @@ -734,7 +734,7 @@ MONDO:0005846 microsporidiosis skos:exactMatch ICD10CM:B60.8 Other specified pro MONDO:0005851 Miller Fisher syndrome skos:exactMatch ICD10CM:G61.0 Guillain-Barre syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym miller fisher syndrome LEXMATCH MONDO:0005854 mixed connective tissue disease skos:exactMatch ICD10CM:M35.1 Other overlap syndromes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mixed connective tissue disease LEXMATCH MONDO:0005864 muscle cancer skos:exactMatch ICD10CM:C49 Malignant neoplasm of other connective and soft tissue semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of muscle LEXMATCH -MONDO:0005866 mycobacterium avium complex disease skos:exactMatch ICD10CM:A31.0 Pulmonary mycobacterial infection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infection due to mycobacterium intracellulare LEXMATCH +MONDO:0005866 Mycobacterium avium complex disease skos:exactMatch ICD10CM:A31.0 Pulmonary mycobacterial infection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infection due to mycobacterium intracellulare LEXMATCH MONDO:0005867 Mycoplasma pneumoniae pneumonia skos:exactMatch ICD10CM:J15.7 Pneumonia due to Mycoplasma pneumoniae semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pneumonia due to mycoplasma pneumoniae LEXMATCH MONDO:0005881 oligohydramnios skos:exactMatch ICD10CM:O41.0 Oligohydramnios semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oligohydramnios LEXMATCH MONDO:0005888 ornithosis skos:exactMatch ICD10CM:A70 Chlamydia psittaci infections semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym psittacosis LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd11.foundation.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd11.foundation.tsv index cbaf70bd..2ca3aaec 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd11.foundation.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd11.foundation.tsv @@ -3065,7 +3065,7 @@ MONDO:0005855 molluscum contagiosum skos:exactMatch icd11.foundation:82201615 Mo MONDO:0005858 mucinous cystadenocarcinoma skos:exactMatch icd11.foundation:1886142270 Mucinous cystadenocarcinoma, NOS semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pseudomucinous adenocarcinoma LEXMATCH MONDO:0005859 mucocutaneous leishmaniasis skos:exactMatch icd11.foundation:1942095878 Mucocutaneous leishmaniasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mucocutaneous leishmaniasis LEXMATCH MONDO:0005864 muscle cancer skos:exactMatch icd11.foundation:1165461867 Myosarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myosarcoma LEXMATCH -MONDO:0005866 mycobacterium avium complex disease skos:exactMatch icd11.foundation:2082736978 Pulmonary infection due to Mycobacterium avium-intracellulare complex semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infection due to mycobacterium intracellulare LEXMATCH +MONDO:0005866 Mycobacterium avium complex disease skos:exactMatch icd11.foundation:2082736978 Pulmonary infection due to Mycobacterium avium-intracellulare complex semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infection due to mycobacterium intracellulare LEXMATCH MONDO:0005867 Mycoplasma pneumoniae pneumonia skos:exactMatch icd11.foundation:963399569 Pneumonia due to Mycoplasma pneumoniae semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mycoplasmal pneumonia LEXMATCH MONDO:0005867 Mycoplasma pneumoniae pneumonia skos:exactMatch icd11.foundation:963399569 Pneumonia due to Mycoplasma pneumoniae semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pneumonia due to mycoplasma pneumoniae LEXMATCH MONDO:0005870 necatoriasis skos:exactMatch icd11.foundation:652000933 Necatoriasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label necatoriasis LEXMATCH @@ -7557,7 +7557,7 @@ MONDO:0017810 variant ABeta2M amyloidosis skos:exactMatch icd11.foundation:14664 MONDO:0017815 acquired porencephaly skos:exactMatch icd11.foundation:39546655 Porencephalic cyst semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acquired porencephaly LEXMATCH MONDO:0017815 acquired porencephaly skos:exactMatch icd11.foundation:39546655 Porencephalic cyst semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acquired porencephaly LEXMATCH MONDO:0017827 malignant peripheral nerve sheath tumor skos:exactMatch icd11.foundation:1196147098 Malignant peripheral nerve sheath tumour semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neurogenic sarcoma LEXMATCH -MONDO:0017832 mycobacterium xenopi infection skos:exactMatch icd11.foundation:1959568836 Pulmonary infection due to Mycobacterium xenopi semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mycobacterium xenopi infection LEXMATCH +MONDO:0017832 Mycobacterium xenopi infection skos:exactMatch icd11.foundation:1959568836 Pulmonary infection due to Mycobacterium xenopi semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mycobacterium xenopi infection LEXMATCH MONDO:0017835 lymphocytic hypereosinophilic syndrome skos:exactMatch icd11.foundation:367714724 Lymphocytic hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphocytic hypereosinophilic syndrome LEXMATCH MONDO:0017836 erythrokeratoderma en cocardes skos:exactMatch icd11.foundation:792094526 Malignant atrophic papulosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym erythrokeratoderma en cocardes LEXMATCH MONDO:0017838 sclerosteosis skos:exactMatch icd11.foundation:371637416 Sclerosteosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sclerosteosis LEXMATCH @@ -9757,6 +9757,7 @@ MONDO:0957462 primary pulmonary tuberculosis skos:exactMatch icd11.foundation:60 MONDO:0958076 myeloschisis skos:exactMatch icd11.foundation:1547705800 Myeloschisis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myeloschisis LEXMATCH MONDO:0958083 conjoined twins skos:exactMatch icd11.foundation:1550169484 Conjoined twins semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label conjoined twins LEXMATCH MONDO:0958096 monomorphic epitheliotropic intestinal T-cell lymphoma skos:exactMatch icd11.foundation:824243127 Monomorphic epitheliotropic intestinal T-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monomorphic epitheliotropic intestinal t-cell lymphoma LEXMATCH +MONDO:0968955 hypocalcified amelogenesis imperfecta skos:exactMatch icd11.foundation:1793262466 Hypocalcified amelogenesis imperfecta semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypocalcified amelogenesis imperfecta LEXMATCH MONDO:1010000 pythiosis skos:exactMatch icd11.foundation:1571230529 Pythiosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pythiosis LEXMATCH MONDO:8000010 antiphospholipid syndrome skos:exactMatch icd11.foundation:1173370808 Antiphospholipid syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label antiphospholipid syndrome LEXMATCH MONDO:8000015 46,XY sex reversal 11 skos:exactMatch icd11.foundation:1581551380 Embryonic testicular regression syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym testicular regression syndrome 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 894fe956..175bb3b6 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv @@ -1,116 +1,113 @@ -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: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:0009586 mesangial sclerosis, diffuse renal, with ocular abnormalities skos:exactMatch OMIM:249660 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0009654 obsolete mucopolysaccharidoses, unclassified types skos:exactMatch OMIM:252700 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0009941 obsolete Pygmy skos:exactMatch OMIM:265850 pygmy 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:0010425 Lisch epithelial corneal dystrophy skos:exactMatch OMIM:300778 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0010425 Lisch epithelial corneal dystrophy skos:exactMatch OMIM:620763 corneal dystrophy, lisch epithelial semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lisch epithelial corneal dystrophy LEXMATCH -MONDO:0010425 Lisch epithelial corneal dystrophy skos:exactMatch OMIM:620763 corneal dystrophy, lisch epithelial semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lisch epithelial corneal dystrophy LEXMATCH -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:0011798 hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration skos:exactMatch OMIM:607236 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:0020621 obsolete blood group--scianna system skos:exactMatch OMIM:111750 blood group--scianna system 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:0044217 obsolete asparagus, specific smell hypersensitivity skos:exactMatch OMIM:108390 asparagus, specific smell hypersensitivity 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: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: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 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: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:0009586 mesangial sclerosis, diffuse renal, with ocular abnormalities skos:exactMatch OMIM:249660 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0009654 obsolete mucopolysaccharidoses, unclassified types skos:exactMatch OMIM:252700 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0009941 obsolete Pygmy skos:exactMatch OMIM:265850 pygmy 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:0011798 hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration skos:exactMatch OMIM:607236 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:0020621 obsolete blood group--scianna system skos:exactMatch OMIM:111750 blood group--scianna system 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:0044217 obsolete asparagus, specific smell hypersensitivity skos:exactMatch OMIM:108390 asparagus, specific smell hypersensitivity 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: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: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 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 10189ef4..c13538e6 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omimps.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omimps.tsv @@ -1,10 +1,7 @@ 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:0000049 obsolete invasive pneumococcal disease, recurrent isolated skos:exactMatch OMIMPS:610799 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0000218 obsolete preimplantation embryonic lethality skos:exactMatch OMIMPS:616814 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007029 branchio-oto-renal syndrome skos:exactMatch OMIMPS:113650 Branchiootorenal syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label branchiootorenal syndrome LEXMATCH -MONDO:0017195 Bruck syndrome skos:exactMatch OMIMPS:259450 Bruck syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bruck syndrome LEXMATCH +MONDO:0015991 citrullinemia skos:exactMatch OMIMPS:215700 Citrullinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label citrullinemia LEXMATCH MONDO:0018875 Li-Fraumeni syndrome skos:exactMatch OMIMPS:151623 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label li-fraumeni syndrome LEXMATCH -MONDO:0018878 branchiootic syndrome skos:exactMatch OMIMPS:602588 Branchiootic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label branchiootic syndrome LEXMATCH -MONDO:0020728 hypouricemia, renal 1 skos:exactMatch OMIMPS:220150 Hypouricemia, renal semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypouricemia, renal LEXMATCH MONDO:0033196 obsolete skin/hair/eye pigmentation, variation in skos:exactMatch OMIMPS:227220 Skin/hair/eye pigmentation, variation in semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0044278 obsolete short sleeper skos:exactMatch OMIMPS:612975 Short sleep, familial natural semapv:UnspecifiedMatching MONDO_MAPPINGS 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 ba812413..ae92ed2c 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_orphanet.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_orphanet.tsv @@ -1,887 +1,882 @@ -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:0002013 lymphangioma skos:exactMatch Orphanet:2415 Rare lymphatic malformation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lymphangioma LEXMATCH -MONDO:0002013 lymphangioma skos:exactMatch Orphanet:2415 Rare lymphatic malformation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lymphangioma LEXMATCH -MONDO:0013626 psoriasis 14, pustular skos:exactMatch Orphanet:163931 Acrodermatitis continua of Hallopeau semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acrodermatitis continua of hallopeau LEXMATCH -MONDO:0015076 obsolete rare parathyroid tumor skos:exactMatch Orphanet:100090 Rare parathyroid tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015081 obsolete neuroendocrine tumor with other location skos:exactMatch Orphanet:100101 Neuroendocrine tumor with other location semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015088 obsolete autosomal dominant pure spastic paraplegia skos:exactMatch Orphanet:100980 Autosomal dominant pure spastic paraplegia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015089 obsolete autosomal recessive complex spastic paraplegia skos:exactMatch Orphanet:100981 Autosomal recessive complex spastic paraplegia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015090 obsolete autosomal recessive pure spastic paraplegia skos:exactMatch Orphanet:100982 Autosomal recessive pure spastic paraplegia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015106 obsolete rare urogenital disease skos:exactMatch Orphanet:101433 Rare urogenital disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015107 obsolete rare genetic eye disease skos:exactMatch Orphanet:101435 Rare genetic eye disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015110 obsolete genetic cardiac rhythm disease skos:exactMatch Orphanet:101934 Genetic cardiac rhythm disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015111 obsolete gastroesophageal disease skos:exactMatch Orphanet:101936 Rare gastroesophageal disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015112 obsolete rare pancreatic disease skos:exactMatch Orphanet:101937 Rare pancreatic disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015113 obsolete rare vascular liver disease skos:exactMatch Orphanet:101938 Rare vascular liver disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015114 obsolete rare parenchymal liver disease skos:exactMatch Orphanet:101939 Rare parenchymal liver disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015115 obsolete rare genetic metabolic liver disease skos:exactMatch Orphanet:101940 Rare metabolic liver disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015116 obsolete rare biliary tract disease skos:exactMatch Orphanet:101941 Rare biliary tract disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015117 obsolete rare hepatic and biliary tract tumor skos:exactMatch Orphanet:101943 Rare hepatic and biliary tract tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015118 obsolete rare pulmonary disease skos:exactMatch Orphanet:101944 Rare pulmonary disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015119 obsolete bronchopulmonary tumor skos:exactMatch Orphanet:101945 Rare bronchopulmonary tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015121 obsolete rare eye tumor skos:exactMatch Orphanet:101950 Rare eye tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015122 obsolete rare diabetes mellitus skos:exactMatch Orphanet:101952 Rare diabetes mellitus semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015123 obsolete rare inherited dyslipidemia skos:exactMatch Orphanet:101953 Rare dyslipidemia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015124 obsolete rare adrenal disease skos:exactMatch Orphanet:101954 Rare adrenal disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015125 obsolete rare thyroid disease skos:exactMatch Orphanet:101955 Rare thyroid disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015130 obsolete acquired chronic primary adrenal insufficiency skos:exactMatch Orphanet:101963 Acquired chronic primary adrenal insufficiency semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015132 obsolete immunodeficiency predominantly affecting antibody production skos:exactMatch Orphanet:101977 Immunodeficiency predominantly affecting antibody production semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015133 obsolete quantitative and/or qualitative congenital phagocyte defect skos:exactMatch Orphanet:101985 Quantitative and/or qualitative congenital phagocyte defect semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015135 obsolete primary immunodeficiency due to a genetic defect in innate immunity skos:exactMatch Orphanet:101988 Primary immunodeficiency due to a defect in innate immunity semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015139 obsolete rare epilepsy skos:exactMatch Orphanet:101998 Rare epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015141 obsolete disorder of medulla oblongata skos:exactMatch Orphanet:102000 Medullar disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015143 obsolete rare movement disorder skos:exactMatch Orphanet:102003 Rare movement disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015144 obsolete brain inflammatory disease skos:exactMatch Orphanet:102005 Brain inflammatory disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015145 obsolete neurovascular malformation skos:exactMatch Orphanet:102006 Neurovascular malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015162 obsolete rare syndromic intellectual disability skos:exactMatch Orphanet:102369 Rare syndromic intellectual disability semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015180 obsolete intestinal disease due to fat malabsorption skos:exactMatch Orphanet:104005 Intestinal disease due to fat malabsorption semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015188 obsolete metabolic disorder with intestinal involvement skos:exactMatch Orphanet:104013 Metabolic disease with intestinal involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015207 obsolete non-syndromic esophageal malformation skos:exactMatch Orphanet:108959 Non-syndromic esophageal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015208 obsolete syndromic esophageal malformation skos:exactMatch Orphanet:108961 Syndromic esophageal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015209 obsolete non-syndromic gastroduodenal malformation skos:exactMatch Orphanet:108963 Non-syndromic gastroduodenal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015210 obsolete syndromic gastroduodenal malformation skos:exactMatch Orphanet:108965 Syndromic gastroduodenal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015214 obsolete syndromic visceral malformation skos:exactMatch Orphanet:108973 Syndromic visceral malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015215 obsolete non-syndromic diaphragmatic or abdominal wall malformation skos:exactMatch Orphanet:108977 Non-syndromic diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015216 obsolete syndromic diaphragmatic or abdominal wall malformation skos:exactMatch Orphanet:108979 Syndromic diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015219 obsolete non-syndromic central nervous system malformation skos:exactMatch Orphanet:108989 Non-syndromic central nervous system malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015220 obsolete syndrome with a central nervous system malformation as major feature skos:exactMatch Orphanet:108991 Syndrome with a central nervous system malformation as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015221 obsolete non-syndromic respiratory or mediastinal malformation skos:exactMatch Orphanet:108993 Non-syndromic respiratory or mediastinal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015222 obsolete syndromic respiratory or mediastinal malformation skos:exactMatch Orphanet:108995 Syndromic respiratory or mediastinal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015223 obsolete rare anemia skos:exactMatch Orphanet:108997 Rare anemia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015224 obsolete rare intoxication skos:exactMatch Orphanet:108999 Rare disorder due to toxic effects semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015227 obsolete non-syndromic limb malformation skos:exactMatch Orphanet:109011 Non-syndromic limb malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015245 obsolete rare intestinal disease skos:exactMatch Orphanet:117569 Rare intestinal disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015305 obsolete rare endometriosis skos:exactMatch Orphanet:137820 Extrapelvic endometriosis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015310 obsolete syndromic optic nerve hypoplasia skos:exactMatch Orphanet:137905 Syndromic optic nerve hypoplasia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015319 obsolete rare disease with Pierre Robin syndrome skos:exactMatch Orphanet:138044 Rare disease with Pierre Robin syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015323 obsolete teratogenic Pierre Robin syndrome skos:exactMatch Orphanet:138059 Teratogenic Pierre Robin syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015328 obsolete rare bone development disorder skos:exactMatch Orphanet:139012 Rare bone development disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015329 obsolete malformation syndrome with short stature skos:exactMatch Orphanet:139021 Malformation syndrome with short stature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015330 obsolete overgrowth/obesity syndrome skos:exactMatch Orphanet:139024 Overgrowth/obesity syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015331 obsolete malformation syndrome with skin/mucosae involvement skos:exactMatch Orphanet:139027 Rare developmental defect with skin/mucosae involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015332 obsolete rare developmental defect with connective tissue involvement skos:exactMatch Orphanet:139030 Rare developmental defect with connective tissue involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015334 obsolete branchial arch or oral-acral syndrome skos:exactMatch Orphanet:139036 Branchial arch or oral-acral syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015335 obsolete Mendelian syndromes with cleft lip/palate skos:exactMatch Orphanet:139039 Orofacial clefting syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015336 obsolete malformation syndrome with odontal and/or periodontal component skos:exactMatch Orphanet:139042 Malformation syndrome with odontal and/or periodontal component semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015359 obsolete autosomal dominant hereditary demyelinating motor and sensory neuropathy skos:exactMatch Orphanet:140453 Autosomal dominant hereditary demyelinating motor and sensory neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015360 obsolete autosomal dominant hereditary axonal motor and sensory neuropathy skos:exactMatch Orphanet:140456 Autosomal dominant hereditary axonal motor and sensory neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015361 obsolete autosomal recessive hereditary demyelinating motor and sensory neuropathy skos:exactMatch Orphanet:140459 Autosomal recessive hereditary demyelinating motor and sensory neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015365 obsolete autosomal dominant hereditary sensory and autonomic neuropathy skos:exactMatch Orphanet:140474 Autosomal dominant hereditary sensory and autonomic neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015366 obsolete autosomal recessive hereditary sensory and autonomic neuropathy skos:exactMatch Orphanet:140477 Autosomal recessive hereditary sensory and autonomic neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015368 obsolete neuro-ophthalmological disease skos:exactMatch Orphanet:140653 Neuro-ophthalmological disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015475 obsolete rare head and neck malformation skos:exactMatch Orphanet:155832 Rare head and neck malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015485 obsolete primary hereditary glaucoma skos:exactMatch Orphanet:156005 Primary early-onset glaucoma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015488 obsolete predominantly large-vessel vasculitis skos:exactMatch Orphanet:156140 Predominantly large-vessel vasculitis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015489 obsolete predominantly medium-vessel vasculitis skos:exactMatch Orphanet:156143 Predominantly medium-vessel vasculitis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015490 obsolete predominantly small-vessel vasculitis skos:exactMatch Orphanet:156146 Predominantly small-vessel vasculitis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015495 obsolete otomandibular dysplasia associated with monogenic syndromes skos:exactMatch Orphanet:156202 Otomandibular dysplasia associated with monogenic syndromes semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015499 obsolete paralytic facial malformation skos:exactMatch Orphanet:156224 Paralytic facial malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015501 obsolete syndrome or malformation associated with head and neck malformations skos:exactMatch Orphanet:156237 Syndrome or malformation associated with head and neck malformations semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015502 obsolete pinnae and external auditory canal anomaly skos:exactMatch Orphanet:156243 Pinnae and external auditory canal anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015504 obsolete larynx anomaly skos:exactMatch Orphanet:156249 Larynx anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015506 obsolete rare syndrome with cardiac malformations skos:exactMatch Orphanet:156532 Rare syndrome with cardiac malformations semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015507 obsolete rare genetic hepatic disease skos:exactMatch Orphanet:156601 Rare genetic hepatic disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015508 obsolete hereditary parenchymatous liver disease skos:exactMatch Orphanet:156604 Genetic parenchymatous liver disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015509 obsolete hereditary biliary tract disease skos:exactMatch Orphanet:156607 Genetic biliary tract disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015510 obsolete rare genetic respiratory disease skos:exactMatch Orphanet:156610 Rare genetic respiratory disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015511 obsolete rare genetic urogenital disease skos:exactMatch Orphanet:156619 Rare genetic urogenital disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015512 obsolete genetic hypertension skos:exactMatch Orphanet:156629 Rare genetic cause of hypertension semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015513 obsolete rare genetic endocrine disease skos:exactMatch Orphanet:156638 Rare genetic endocrine disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015549 obsolete rare genetic hematologic disease skos:exactMatch Orphanet:158300 Rare genetic hematologic disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015572 obsolete cerebral malformation due to abnormal neuronal migration skos:exactMatch Orphanet:163209 Non-syndromic cerebral malformation due to abnormal neuronal migration semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015575 obsolete rare bacterial infectious disease skos:exactMatch Orphanet:163582 Rare bacterial infectious disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015576 obsolete rare viral disease skos:exactMatch Orphanet:163585 Rare viral disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015577 obsolete rare parasitic disease skos:exactMatch Orphanet:163588 Rare parasitic disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015578 obsolete rare mycosis skos:exactMatch Orphanet:163591 Rare mycosis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015582 obsolete rare disorder related with pregnancy, childbirth and puerperium skos:exactMatch Orphanet:163637 Rare disorder related with pregnancy, childbirth and puerperium semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015603 obsolete rare odontal or periodontal disorder skos:exactMatch Orphanet:164001 Rare odontal or periodontal disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015615 obsolete rare genetic gastroenterological disease skos:exactMatch Orphanet:165652 Rare genetic gastroenterological disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015616 obsolete rare genetic intestinal disease skos:exactMatch Orphanet:165655 Genetic intestinal disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015617 obsolete hereditary gastro-esophageal disease skos:exactMatch Orphanet:165658 Genetic gastro-esophageal disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015618 obsolete genetic pancreatic disease skos:exactMatch Orphanet:165661 Genetic pancreatic disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015620 obsolete syndromic urogenital tract malformation skos:exactMatch Orphanet:165707 Syndromic urogenital tract malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015621 obsolete rare abdominal surgical disease skos:exactMatch Orphanet:165711 Rare abdominal surgical disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015651 obsolete neurocutaneous syndrome with epilepsy skos:exactMatch Orphanet:166466 Neurocutaneous syndrome with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015652 obsolete chromosomal anomaly with epilepsy as a major feature skos:exactMatch Orphanet:166469 Chromosomal anomaly with epilepsy as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015654 obsolete idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes skos:exactMatch Orphanet:166475 Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015655 obsolete cerebral malformation with epilepsy skos:exactMatch Orphanet:166478 Cerebral malformation with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015656 obsolete metabolic disease with epilepsy skos:exactMatch Orphanet:166481 Metabolic diseases with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015657 obsolete inflammatory and autoimmune disease with epilepsy skos:exactMatch Orphanet:166484 Inflammatory and autoimmune disease with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015658 obsolete cerebral diseases of vascular origin with epilepsy skos:exactMatch Orphanet:166487 Cerebral diseases of vascular origin with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015659 obsolete infectious disease with epilepsy skos:exactMatch Orphanet:166490 Infectious disease with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015662 obsolete hemorrhagic disorder due to an acquired coagulation factor defect skos:exactMatch Orphanet:166775 Rare hemorrhagic disorder due to an acquired coagulation factor defect semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015668 obsolete hereditary dentin defect skos:exactMatch Orphanet:167759 Hereditary dentin defect semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015669 obsolete rare disease with dentinogenesis imperfecta skos:exactMatch Orphanet:167762 Rare disease with dentinogenesis imperfecta semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015673 obsolete rare cardiac tumor skos:exactMatch Orphanet:168194 Rare cardiac tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015682 obsolete primary peritoneal tumor skos:exactMatch Orphanet:168803 Primary peritoneal tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015710 obsolete immune dysregulation disease with immunodeficiency skos:exactMatch Orphanet:169361 Immune dysregulation disease with immunodeficiency semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015765 obsolete congenital myopathy with cores skos:exactMatch Orphanet:172976 Congenital myopathy with cores semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015777 obsolete adult hypothyroidism skos:exactMatch Orphanet:177101 Rare adult hypothyroidism semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015778 obsolete syndromic hypothyroidism skos:exactMatch Orphanet:177107 Syndromic hypothyroidism semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015789 obsolete non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations skos:exactMatch Orphanet:178025 Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015823 obsolete primary immunodeficiency due to a defect in adaptive immunity skos:exactMatch Orphanet:179006 Primary immunodeficiency due to a defect in adaptive immunity semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015846 obsolete syndromic uterovaginal malformation skos:exactMatch Orphanet:180148 Syndromic uterovaginal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015851 obsolete rare breast malformation skos:exactMatch Orphanet:180163 Rare breast malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015852 obsolete excess breast volume or number skos:exactMatch Orphanet:180170 Excess breast volume or number semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015853 obsolete deficient breast volume or number skos:exactMatch Orphanet:180173 Deficient breast volume or number semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015857 obsolete rare non-malformative gynecologic or obstetric disease skos:exactMatch Orphanet:180199 Rare non-malformative gynecologic or obstetric disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015858 obsolete rare non-malformative breast disease skos:exactMatch Orphanet:180202 Rare non-malformative breast disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015859 obsolete rare non-malformative uterovaginal or vulvovaginal disease skos:exactMatch Orphanet:180205 Rare non-malformative uterovaginal or vulvovaginal disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015860 obsolete anomaly of puberty or/and menstrual cycle skos:exactMatch Orphanet:180208 Anomaly of puberty or/and menstrual cycle semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015861 obsolete rare uterine adnexal tumor skos:exactMatch Orphanet:180220 Rare uterine adnexal tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015868 obsolete rare breast tumor skos:exactMatch Orphanet:180250 Rare breast tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015870 obsolete rare malignant breast tumor skos:exactMatch Orphanet:180257 Rare malignant breast tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015875 obsolete rare non-malformative uterine adnexal disease skos:exactMatch Orphanet:180303 Rare non-malformative uterine adnexal disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015876 obsolete rare vulvovaginal tumor skos:exactMatch Orphanet:180312 Rare vulvovaginal tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015877 obsolete malformative syndrome with dentinogenesis imperfecta skos:exactMatch Orphanet:180766 Malformative syndrome with dentinogenesis imperfecta semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015879 obsolete non-syndromic diaphragmatic or thoracic malformation skos:exactMatch Orphanet:180776 Non-syndromic diaphragmatic or thoracic malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015880 obsolete syndromic diaphragmatic or thoracic malformation skos:exactMatch Orphanet:180779 Syndromic diaphragmatic or thoracic malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015881 obsolete gastroesophageal tumor skos:exactMatch Orphanet:180821 Rare gastroesophageal tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015886 obsolete rare diabetes mellitus type 1 skos:exactMatch Orphanet:181371 Rare diabetes mellitus type 1 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015887 obsolete rare diabetes mellitus type 2 skos:exactMatch Orphanet:181376 Rare diabetes mellitus type 2 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015888 obsolete other rare diabetes mellitus skos:exactMatch Orphanet:181381 Other rare diabetes mellitus semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015889 obsolete rare hypothalamic or pituitary disease skos:exactMatch Orphanet:181384 Rare hypothalamic or pituitary disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015890 obsolete rare disorder with congenital hypogonadotropic hypogonadism skos:exactMatch Orphanet:181387 Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015891 obsolete hypogonadotropic hypogonadism associated with other endocrinopathies skos:exactMatch Orphanet:181390 Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015893 obsolete rare hypothyroidism skos:exactMatch Orphanet:181396 Rare hypothyroidism semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015894 obsolete rare hyperthyroidism skos:exactMatch Orphanet:181399 Rare hyperthyroidism semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015896 obsolete rare hypoparathyroidism skos:exactMatch Orphanet:181405 Rare hypoparathyroidism semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015897 obsolete rare hyperparathyroidism skos:exactMatch Orphanet:181408 Rare hyperparathyroidism semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015899 obsolete rare primary hyperaldosteronism skos:exactMatch Orphanet:181415 Rare primary hyperaldosteronism semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015901 obsolete rare inherited hyperlipidemia skos:exactMatch Orphanet:181422 Rare hyperlipidemia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015906 obsolete rare disorder with hypergonadotropic hypogonadism skos:exactMatch Orphanet:181441 Rare disorder with hypergonadotropic hypogonadism semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015910 obsolete rare constitutional hemolytic anemia skos:exactMatch Orphanet:182043 Rare constitutional hemolytic anemia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015911 obsolete rare acquired hemolytic anemia skos:exactMatch Orphanet:182047 Rare acquired hemolytic anemia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015913 obsolete rare thrombotic disease of hematologic origin skos:exactMatch Orphanet:182054 Rare thrombotic disease of hematologic origin semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015915 obsolete cerebellar malformation skos:exactMatch Orphanet:182061 Cerebellar malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015916 obsolete rare neuroinflammatory or neuroimmunological disease skos:exactMatch Orphanet:182064 Rare neuroinflammatory or neuroimmunological disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015918 obsolete rare neurodegenerative disease skos:exactMatch Orphanet:182070 Rare neurodegenerative disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015921 obsolete ARX-related epileptic encephalopathy skos:exactMatch Orphanet:182079 ARX-related epileptic encephalopathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015922 obsolete channelopathy with epilepsy skos:exactMatch Orphanet:182083 Channelopathy with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015930 obsolete respiratory malformation skos:exactMatch Orphanet:182111 Respiratory malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015931 obsolete rare urogenital tumor skos:exactMatch Orphanet:182114 Rare urogenital tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015940 obsolete rare rheumatologic disease skos:exactMatch Orphanet:182231 Rare rheumatologic disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015945 obsolete polymalformative genetic syndrome with increased risk of developing cancer skos:exactMatch Orphanet:183422 Polymalformative genetic syndrome with increased risk of developing cancer semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015946 obsolete rare genetic epidermal disorder skos:exactMatch Orphanet:183426 Genetic epidermal disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015948 obsolete rare genetic skin vascular disorder skos:exactMatch Orphanet:183478 Genetic skin vascular disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015949 obsolete rare genetic subcutaneous tissue disorder skos:exactMatch Orphanet:183484 Genetic subcutaneous tissue disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015950 obsolete inherited skin tumor skos:exactMatch Orphanet:183487 Genetic skin tumor or hamartoma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015953 obsolete genetic central nervous system and retinal vascular disease skos:exactMatch Orphanet:183503 Genetic central nervous system and retinal vascular disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015954 obsolete rare genetic headache disorder skos:exactMatch Orphanet:183509 Rare genetic headache semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015955 obsolete rare genetic epilepsy skos:exactMatch Orphanet:183512 Rare genetic epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015957 obsolete rare genetic movement disorder skos:exactMatch Orphanet:183521 Rare genetic movement disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015958 obsolete rare genetic bone disease skos:exactMatch Orphanet:183524 Rare genetic bone disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015959 obsolete inherited syndrome with bone tumors as a major feature skos:exactMatch Orphanet:183527 Genetic bone tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015960 obsolete rare genetic developmental defect during embryogenesis skos:exactMatch Orphanet:183530 Rare genetic developmental defect during embryogenesis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015961 obsolete hereditary head and neck malformation skos:exactMatch Orphanet:183583 Genetic head and neck malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015963 obsolete inherited renal tumor skos:exactMatch Orphanet:183595 Genetic renal tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015966 obsolete hereditary eye tumor skos:exactMatch Orphanet:183619 Genetic eye tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015968 obsolete rare genetic hypothalamic or pituitary disease skos:exactMatch Orphanet:183628 Rare genetic hypothalamic or pituitary disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015969 obsolete rare genetic thyroid disease skos:exactMatch Orphanet:183631 Rare genetic thyroid disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015970 obsolete rare genetic parathyroid disease and phosphocalcic metabolism disorder skos:exactMatch Orphanet:183634 Rare genetic parathyroid disease and phosphocalcic metabolism disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015971 obsolete rare genetic adrenal disease skos:exactMatch Orphanet:183637 Rare genetic adrenal disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015972 obsolete rare constitutional anemia skos:exactMatch Orphanet:183651 Rare constitutional anemia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015980 obsolete rare genetic gynecological and obstetrical diseases skos:exactMatch Orphanet:183731 Rare genetic gynecological and obstetrical diseases semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015981 obsolete inherited gynecological tumor skos:exactMatch Orphanet:183734 Genetic gynecological tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015982 obsolete rare genetic intellectual disability skos:exactMatch Orphanet:183757 Rare genetic intellectual disability semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015983 obsolete rare genetic syndromic intellectual disability skos:exactMatch Orphanet:183763 Rare genetic syndromic intellectual disability semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015984 obsolete rare genetic immune disease skos:exactMatch Orphanet:183770 Rare genetic immune disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016034 obsolete cleft lip with or without cleft palate skos:exactMatch Orphanet:1991 Cleft lip with or without cleft palate semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016054 obsolete cerebral malformation skos:exactMatch Orphanet:199633 Non-syndromic cerebral malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016055 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature skos:exactMatch Orphanet:199639 Syndrome with corpus callosum agenesis/dysgenesis as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016072 obsolete anomaly of puberty or/and menstrual cycle of genetic origin skos:exactMatch Orphanet:202940 Anomaly of puberty or/and menstrual cycle of genetic origin semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016104 obsolete infectious disease with peripheral neuropathy skos:exactMatch Orphanet:206613 Infectious disease with peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016109 obsolete autosomal recessive distal myopathy skos:exactMatch Orphanet:206653 Autosomal recessive distal myopathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016110 obsolete non-dystrophic myopathy skos:exactMatch Orphanet:206656 Non-dystrophic myopathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016114 obsolete bulbospinal muscular atrophy of childhood skos:exactMatch Orphanet:206704 Bulbospinal muscular atrophy of childhood semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016115 obsolete bulbospinal muscular atrophy of adulthood skos:exactMatch Orphanet:206707 Bulbospinal muscular atrophy of adult semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016116 obsolete generalized bulbospinal muscular atrophy skos:exactMatch Orphanet:206710 Generalized bulbospinal muscular atrophy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016118 obsolete muscular glycogenosis skos:exactMatch Orphanet:206959 Muscular glycogenosis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016131 obsolete spinal muscular atrophy associated with central nervous system anomaly skos:exactMatch Orphanet:207012 Spinal muscular atrophy associated with central nervous system anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016132 obsolete rare hereditary disease with peripheral neuropathy skos:exactMatch Orphanet:207015 Rare hereditary disease with peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016133 obsolete rare hereditary metabolic disease with peripheral neuropathy skos:exactMatch Orphanet:207018 Rare hereditary metabolic disease with peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016134 obsolete rare hereditary systemic disease with peripheral neuropathy skos:exactMatch Orphanet:207021 Rare hereditary systemic disease with peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016135 obsolete rare hereditary neurologic disease with peripheral neuropathy skos:exactMatch Orphanet:207025 Rare hereditary neurologic disease with peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016137 obsolete acute and subacute inflammatory demyelinating polyneuropathy skos:exactMatch Orphanet:207038 Acute and subacute inflammatory demyelinating polyneuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016138 obsolete malignant lymphoma with peripheral neuropathy skos:exactMatch Orphanet:207046 Malignant lymphoma with peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016150 obsolete qualitative or quantitative defects of integrin alpha-7 skos:exactMatch Orphanet:207098 Qualitative or quantitative defects of integrin alpha-7 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016152 obsolete qualitative or quantitative defects of calpain skos:exactMatch Orphanet:207104 Qualitative or quantitative defects of calpain semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016154 obsolete qualitative or quantitative defects of myotubularin skos:exactMatch Orphanet:207110 Qualitative or quantitative defects of myotubularin semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016157 obsolete qualitative or quantitative defects of fukutin skos:exactMatch Orphanet:207122 Qualitative or quantitative defects of fukutin semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016169 obsolete chronic acquired demyelinating polyneuropathy skos:exactMatch Orphanet:208974 Chronic acquired demyelinating polyneuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016170 obsolete chronic polyradiculoneuropathy skos:exactMatch Orphanet:208978 Chronic polyradiculoneuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016172 obsolete acquired sensory ganglionopathy skos:exactMatch Orphanet:208984 Acquired sensory ganglionopathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016177 obsolete systemic inflammatory disease associated with an acquired peripheral neuropathy skos:exactMatch Orphanet:209007 Systemic inflammatory disease associated with an acquired peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016178 obsolete peripheral neuropathy associated with monoclonal gammopathy skos:exactMatch Orphanet:209010 Peripheral neuropathy associated with monoclonal gammopathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016179 obsolete acquired amyloid peripheral neuropathy skos:exactMatch Orphanet:209013 Acquired amyloid peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016180 obsolete hematological disease associated with an acquired peripheral neuropathy skos:exactMatch Orphanet:209016 Hematological disease associated with an acquired peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016181 obsolete solid tumor associated with an acquired peripheral neuropathy skos:exactMatch Orphanet:209019 Solid tumor associated with an acquired peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016182 obsolete qualitative or quantitative defects of protein O-mannose beta1, 2N-acetylglucosaminyltransferase skos:exactMatch Orphanet:209024 Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016183 obsolete qualitative or quantitative defects of protein glycosyltransferase-like skos:exactMatch Orphanet:209027 Qualitative or quantitative defects of protein glycosyltransferase-like semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016196 obsolete qualitative or quantitative defects of emerin skos:exactMatch Orphanet:209188 Qualitative or quantitative defects of emerin semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016200 obsolete qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase skos:exactMatch Orphanet:209203 Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016221 obsolete temporomandibular joint anomaly skos:exactMatch Orphanet:210581 Temporomandibular joint anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016228 obsolete rare vascular tumor skos:exactMatch Orphanet:211237 Rare vascular tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016229 obsolete hereditary vascular anomaly skos:exactMatch Orphanet:211240 Genetic vascular anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016230 obsolete simple vascular malformation skos:exactMatch Orphanet:211243 Simple vascular malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016232 obsolete rare venous malformation skos:exactMatch Orphanet:211252 Rare venous malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016233 obsolete rare lymphatic system malformation skos:exactMatch Orphanet:211255 Rare lymphatic system anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016235 obsolete complex vascular malformation with associated anomalies skos:exactMatch Orphanet:211277 Complex vascular malformation with associated anomalies semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016252 obsolete rare uterine cancer skos:exactMatch Orphanet:213564 Rare uterine cancer semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016253 obsolete rare cancer of corpus uteri skos:exactMatch Orphanet:213569 Rare cancer of corpus uteri semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016274 obsolete rare cancer of cervix uteri skos:exactMatch Orphanet:213761 Rare cancer of cervix uteri semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016320 obsolete rare hereditary thrombophilia skos:exactMatch Orphanet:217454 Rare hereditary thrombophilia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016343 obsolete unclassified cardiomyopathy skos:exactMatch Orphanet:217678 Unclassified cardiomyopathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016347 obsolete rare cardiac rhythm disease skos:exactMatch Orphanet:218436 Rare cardiac rhythm disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016348 obsolete non-genetic cardiac rhythm disease skos:exactMatch Orphanet:218439 Non-genetic cardiac rhythm disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016375 obsolete acquired peripheral movement disorder skos:exactMatch Orphanet:221114 Acquired peripheral movement disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016397 obsolete lysosomal disease with epilepsy skos:exactMatch Orphanet:225681 Lysosomal disease with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016398 obsolete peroxisomal disease with epilepsy skos:exactMatch Orphanet:225686 Peroxisomal disease with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016399 obsolete amino acid or protein metabolism disease with epilepsy skos:exactMatch Orphanet:225689 Amino acid or protein metabolism disease with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016400 obsolete metal transport or utilization disorder with epilepsy skos:exactMatch Orphanet:225692 Metal transport or utilization disorder with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016401 obsolete energy metabolism disorder with epilepsy skos:exactMatch Orphanet:225696 Energy metabolism disorder with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016402 obsolete mitochondrial disease with epilepsy skos:exactMatch Orphanet:225700 Mitochondrial disease with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016403 obsolete mitochondrial disease with peripheral neuropathy skos:exactMatch Orphanet:225703 Mitochondrial disease with peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016404 obsolete metabolic neurotransmission anomaly with epilepsy skos:exactMatch Orphanet:225707 Metabolic neurotransmission anomaly with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016405 obsolete sterol metabolism disorder with epilepsy skos:exactMatch Orphanet:225710 Sterol metabolism disorder with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016406 obsolete other metabolic disease with epilepsy skos:exactMatch Orphanet:225713 Other metabolic disease with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016409 obsolete primary congenital hypothyroidism skos:exactMatch Orphanet:226295 Primary congenital hypothyroidism semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016428 obsolete multiple sclerosis variant skos:exactMatch Orphanet:228145 Multiple sclerosis variant semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016434 obsolete acquired dermis elastic tissue disorder skos:exactMatch Orphanet:228218 Acquired dermis elastic tissue disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016435 obsolete acquired dermis elastic tissue disorder with decreased elastic tissue skos:exactMatch Orphanet:228221 Acquired dermis elastic tissue disorder with decreased elastic tissue semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016436 obsolete acquired dermis elastic tissue disorder with increased elastic tissue skos:exactMatch Orphanet:228224 Acquired dermis elastic tissue disorder with increased elastic tissue semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016493 obsolete variant of Guillain-Barre syndrome skos:exactMatch Orphanet:231413 Variant of Guillain-Barré syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016494 obsolete regional variant of Guillain-Barre syndrome skos:exactMatch Orphanet:231416 Regional variant of Guillain-Barré syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016495 obsolete functional variant of Guillain-Barre syndrome skos:exactMatch Orphanet:231419 Functional variant of Guillain-Barré syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016507 obsolete rare surgically correctable form of primary aldosteronism skos:exactMatch Orphanet:231637 Rare surgically correctable form of primary aldosteronism semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016508 obsolete rare non surgically correctable form of primary aldosteronism skos:exactMatch Orphanet:231641 Rare non surgically correctable form of primary aldosteronism semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016517 obsolete rare genetic vascular disease skos:exactMatch Orphanet:233655 Rare genetic vascular disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016518 obsolete isolated punctate palmoplantar keratoderma skos:exactMatch Orphanet:2338 Isolated punctate palmoplantar keratoderma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016524 obsolete congenital vascular bone syndrome skos:exactMatch Orphanet:235832 Congenital vascular bone syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016565 obsolete syndromic genetic obesity skos:exactMatch Orphanet:240371 Syndromic obesity semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016578 obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies skos:exactMatch Orphanet:2443 Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016579 obsolete dominant hypophosphatemia with nephrolithiasis or osteoporosis skos:exactMatch Orphanet:244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016623 obsolete rare deficiency anemia skos:exactMatch Orphanet:248293 Rare deficiency anemia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016627 obsolete rare hemorrhagic disorder skos:exactMatch Orphanet:248308 Rare hemorrhagic disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016628 obsolete hemorrhagic disorder due to a coagulation factors defect skos:exactMatch Orphanet:248315 Rare hemorrhagic disorder due to a coagulation factors defect semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016629 obsolete hemorrhagic disorder due to a platelet anomaly skos:exactMatch Orphanet:248326 Rare hemorrhagic disorder due to a platelet anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016631 obsolete hemorrhagic disorder due to an acquired platelet anomaly skos:exactMatch Orphanet:248347 Rare hemorrhagic disorder due to an acquired platelet anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016632 obsolete thrombotic disorder due to a coagulation factors defect skos:exactMatch Orphanet:248358 Rare thrombotic disorder due to a coagulation factors defect semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016633 obsolete thrombotic disorder due to a constitutional coagulation factors defect skos:exactMatch Orphanet:248361 Rare thrombotic disorder due to a constitutional coagulation factors defect semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016634 obsolete thrombotic disorder due to an acquired coagulation factors defect skos:exactMatch Orphanet:248365 Rare thrombotic disorder due to an acquired coagulation factors defect semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016635 obsolete thrombotic disorder due to a platelet anomaly skos:exactMatch Orphanet:248368 Rare thrombotic disorder due to a platelet anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016636 obsolete thrombotic disorder due to a constitutional platelet anomaly skos:exactMatch Orphanet:248401 Rare thrombotic disorder due to a constitutional platelet anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016637 obsolete thrombotic disorder due to an acquired platelet anomaly skos:exactMatch Orphanet:248404 Rare thrombotic disorder due to an acquired platelet anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016645 obsolete rare neoplastic disease skos:exactMatch Orphanet:250908 Rare neoplastic disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016678 obsolete maternal disease-related embryofetopathy skos:exactMatch Orphanet:251535 Maternal disease-related embryofetopathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016679 obsolete rare tumor of neuroepithelial tissue skos:exactMatch Orphanet:251558 Rare tumor of neuroepithelial tissue semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016704 obsolete glial tumor of neuroepithelial tissue with unknown origin skos:exactMatch Orphanet:251668 Glial tumor of neuroepithelial tissue with unknown origin semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016708 obsolete embryonal tumor of neuroepithelial tissue skos:exactMatch Orphanet:251852 Embryonal tumor of neuroepithelial tissue semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016721 obsolete pineal tumor of neuroepithelial tissue skos:exactMatch Orphanet:251905 Pineal tumor of neuroepithelial tissue semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016726 obsolete neuronal tumor skos:exactMatch Orphanet:251924 Neuronal tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016744 obsolete primary melanocytic tumor of central nervous system skos:exactMatch Orphanet:252028 Primary melanocytic tumor of central nervous system semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016756 obsolete inherited nervous system cancer-predisposing syndrome skos:exactMatch Orphanet:252190 Inherited nervous system cancer-predisposing syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016767 obsolete cutaneous lichen planus skos:exactMatch Orphanet:254370 Rare cutaneous lichen planus semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016768 obsolete rare mucosal lichen planus skos:exactMatch Orphanet:254373 Rare mucosal lichen planus semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016788 obsolete genetic hyperferritinemia without iron overload skos:exactMatch Orphanet:254704 Genetic hyperferritinemia without iron overload semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016791 obsolete mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies skos:exactMatch Orphanet:254758 Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016792 obsolete mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA skos:exactMatch Orphanet:254767 Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016793 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA skos:exactMatch Orphanet:254776 Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016794 obsolete maternally-inherited mitochondrial myopathy skos:exactMatch Orphanet:254788 Mitochondrial DNA-related mitochondrial myopathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016799 obsolete mitochondrial oxidative phosphorylation disorder with no known mechanism skos:exactMatch Orphanet:254822 Mitochondrial oxidative phosphorylation disorder with no known mechanism semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016803 obsolete unspecified inborn mitochondrial disorder skos:exactMatch Orphanet:254837 Unspecified mitochondrial disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016805 obsolete isolated oxidative phosphorylation complex disorder skos:exactMatch Orphanet:254846 Isolated oxidative phosphorylation complex disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016998 obsolete complex chromosomal rearrangement skos:exactMatch Orphanet:263708 Complex chromosomal rearrangement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016999 obsolete X chromosome number anomaly skos:exactMatch Orphanet:263714 X chromosome number anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017000 obsolete X chromosome number anomaly with female phenotype skos:exactMatch Orphanet:263717 X chromosome number anomaly with female phenotype semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017001 obsolete X chromosome number anomaly with male phenotype skos:exactMatch Orphanet:263720 X chromosome number anomaly with male phenotype semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017002 obsolete polysomy of X chromosome skos:exactMatch Orphanet:263723 Polysomy of X chromosome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017005 obsolete Y chromosome number anomaly skos:exactMatch Orphanet:263746 Y chromosome number anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017006 obsolete X and Y chromosomal anomaly skos:exactMatch Orphanet:263749 X and Y chromosomal anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017011 obsolete uniparental disomy of chromosome X skos:exactMatch Orphanet:263793 Uniparental disomy of chromosome X semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017085 obsolete malformation of the neurenteric canal, spinal cord and column skos:exactMatch Orphanet:268843 Malformation of the neurenteric canal, spinal cord and column semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017090 obsolete midline cerebral malformation skos:exactMatch Orphanet:268926 Midline cerebral malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017104 obsolete central nervous system cystic malformation skos:exactMatch Orphanet:269194 Central nervous system cystic malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017114 obsolete global cerebellar malformation skos:exactMatch Orphanet:269224 Global cerebellar malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017118 obsolete syndrome with a cerebellar malformation as major feature skos:exactMatch Orphanet:269523 Syndrome with a cerebellar malformation as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017120 obsolete other syndrome with a central nervous system malformation as major feature skos:exactMatch Orphanet:269531 Other syndrome with a central nervous system malformation as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017121 obsolete syndrome with a Dandy-Walker malformation as major feature skos:exactMatch Orphanet:269546 Syndrome with a Dandy-Walker malformation as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017122 obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature skos:exactMatch Orphanet:269573 Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017127 obsolete inherited soft tissue tumor skos:exactMatch Orphanet:271832 Genetic soft tissue tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017128 obsolete inherited digestive tract tumor skos:exactMatch Orphanet:271835 Genetic digestive tract tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017129 obsolete inherited cardiac tumor skos:exactMatch Orphanet:271841 Genetic cardiac tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017130 obsolete genetic urogenital tumor skos:exactMatch Orphanet:271844 Genetic urogenital tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017131 obsolete hereditary cardiac anomaly skos:exactMatch Orphanet:271853 Genetic cardiac anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017141 obsolete hemorrhagic disorder due to a constitutional thrombocytopenia skos:exactMatch Orphanet:275729 Rare hemorrhagic disorder due to a constitutional thrombocytopenia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017142 obsolete hemorrhagic disorder due to a qualitative platelet defect skos:exactMatch Orphanet:275736 Rare hemorrhagic disorder due to a qualitative platelet defect semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017143 obsolete genetic infertility skos:exactMatch Orphanet:275742 Genetic infertility semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017158 obsolete pulmonary hypertension with unclear multifactorial mechanism skos:exactMatch Orphanet:275844 Pulmonary hypertension with unclear multifactorial mechanism semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017159 obsolete syndrome with pulmonary hypertension as a major feature skos:exactMatch Orphanet:275853 Syndrome with pulmonary hypertension as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017163 obsolete hemolytic disease due to fetomaternal alloimmunization skos:exactMatch Orphanet:275938 Hemolytic disease due to fetomaternal alloimmunization semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017166 obsolete rare tumor of salivary glands skos:exactMatch Orphanet:276142 Rare tumor of salivary glands semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017234 obsolete inherited prion disease skos:exactMatch Orphanet:280400 Inherited human prion disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017259 obsolete systemic diseases with anterior uveitis skos:exactMatch Orphanet:280926 Systemic diseases with anterior uveitis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017260 obsolete systemic diseases with posterior uveitis skos:exactMatch Orphanet:280930 Systemic diseases with posterior uveitis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017261 obsolete systemic diseases with panuveitis skos:exactMatch Orphanet:280933 Systemic diseases with panuveitis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017262 obsolete inherited non-syndromic ichthyosis skos:exactMatch Orphanet:281082 Inherited non-syndromic ichthyosis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017270 obsolete autosomal ichthyosis syndrome skos:exactMatch Orphanet:281217 Autosomal ichthyosis syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017271 obsolete autosomal ichthyosis syndrome with prominent hair abnormalities skos:exactMatch Orphanet:281222 Autosomal ichthyosis syndrome with prominent hair abnormalities semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017272 obsolete autosomal ichthyosis syndrome with prominent neurologics signs skos:exactMatch Orphanet:281238 Autosomal ichthyosis syndrome with prominent neurologic signs semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017273 obsolete autosomal ichthyosis syndrome with fatal disease course skos:exactMatch Orphanet:281241 Autosomal ichthyosis syndrome with fatal disease course semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017302 obsolete qualitative or quantitative defects of troponin skos:exactMatch Orphanet:284786 Qualitative or quantitative defects of troponin semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017311 obsolete rare disease with thoracic aortic aneurysm and aortic dissection skos:exactMatch Orphanet:285014 Rare disease with thoracic aortic aneurysm and aortic dissection semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017368 obsolete systemic disease with skin involvement skos:exactMatch Orphanet:290836 Systemic disease with skin involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017369 obsolete autoinflammatory syndrome with immune deficiency skos:exactMatch Orphanet:290839 Autoinflammatory syndrome with immune deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017370 obsolete autoinflammatory syndrome with skin involvement skos:exactMatch Orphanet:290842 Autoinflammatory syndrome with skin involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017371 obsolete rare head and neck tumor skos:exactMatch Orphanet:290849 Rare head and neck tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017390 obsolete methylmalonic acidemia without homocystinuria skos:exactMatch Orphanet:293355 Methylmalonic acidemia without homocystinuria semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017414 obsolete rare nevus skos:exactMatch Orphanet:294057 Rare nevus semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017420 obsolete intercalary limb defects skos:exactMatch Orphanet:294927 Intercalary limb defects semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017431 obsolete non-syndromic limb overgrowth skos:exactMatch Orphanet:294953 Non syndromic limb overgrowth semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017432 obsolete syndrome with limb reduction defects skos:exactMatch Orphanet:294955 Syndrome with limb reduction defects semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017633 obsolete rare intoxication due to medical products skos:exactMatch Orphanet:306640 Rare intoxication due to medical products semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017635 obsolete parkinsonian syndrome due to neurodegenerative disease skos:exactMatch Orphanet:306666 Rare parkinsonian syndrome due to neurodegenerative disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017637 obsolete rare parkinsonian syndrome due to intoxication skos:exactMatch Orphanet:306679 Rare parkinsonian syndrome due to intoxication semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017641 obsolete miscellaneous movement disorder due to neurodegenerative disease skos:exactMatch Orphanet:306695 Miscellaneous movement disorder due to neurodegenerative disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017643 obsolete frontotemporal neurodegeneration with movement disorder skos:exactMatch Orphanet:306708 Frontotemporal neurodegeneration with movement disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017644 obsolete rare tremor disorder skos:exactMatch Orphanet:306712 Rare tremor disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017645 obsolete rare choreic movement disorder skos:exactMatch Orphanet:306715 Rare choreic movement disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017646 obsolete neurodegenerative disease with chorea skos:exactMatch Orphanet:306719 Neurodegenerative disease with chorea semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017647 obsolete postinfectious autoimmune disease with chorea skos:exactMatch Orphanet:306727 Postinfectious autoimmune disease with chorea semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017650 obsolete rare myoclonus skos:exactMatch Orphanet:306747 Rare myoclonus semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017651 obsolete primary myoclonus skos:exactMatch Orphanet:306750 Primary myoclonus semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017652 obsolete rare disease with myoclonus as a major feature skos:exactMatch Orphanet:306753 Rare disease with myoclonus as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017653 obsolete epilepsy and/or ataxia with myoclonus as major feature skos:exactMatch Orphanet:306756 Epilepsy and/or ataxia with myoclonus as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017654 obsolete non progressive epilepsy and/or ataxia with myoclonus as a major feature skos:exactMatch Orphanet:306759 Non progressive epilepsy and/or ataxia with myoclonus as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017656 obsolete motor stereotypies skos:exactMatch Orphanet:306765 Motor stereotypies semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017657 obsolete rare paroxysmal movement disorder skos:exactMatch Orphanet:306768 Rare paroxysmal movement disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017660 obsolete rare genetic parkinsonian disorder skos:exactMatch Orphanet:307052 Rare genetic parkinsonian disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017661 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease skos:exactMatch Orphanet:307055 Rare parkinsonian syndrome due to genetic neurodegenerative disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017662 obsolete miscellaneous movement disorder due to genetic neurodegenerative disease skos:exactMatch Orphanet:307058 Miscellaneous movement disorder due to genetic neurodegenerative disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017663 obsolete inherited tremor disorder skos:exactMatch Orphanet:307061 Rare genetic tremor disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017663 obsolete inherited tremor disorder skos:exactMatch Orphanet:307064 Rare genetic myoclonus semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017665 obsolete rare genetic disease with myoclonus as a major feature skos:exactMatch Orphanet:307067 Rare genetic disease with myoclonus as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017667 obsolete isolated diffuse palmoplantar keratoderma skos:exactMatch Orphanet:307148 Isolated diffuse palmoplantar keratoderma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017669 obsolete disease with diffuse palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:307711 Disease with diffuse palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017670 obsolete autosomal dominant diffuse mutilating palmoplantar keratoderma skos:exactMatch Orphanet:307773 Autosomal dominant diffuse mutilating palmoplantar keratoderma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017671 obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:307804 Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017673 obsolete isolated focal palmoplantar keratoderma skos:exactMatch Orphanet:307846 Isolated focal palmoplantar keratoderma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017674 obsolete disease with focal palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:307871 Disease with focal palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017678 obsolete obsolete disease with punctate palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:308023 Disease with punctate palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017679 obsolete obsolete autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:308031 Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017680 obsolete autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:308041 Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017710 obsolete congenital systemic veins anomaly skos:exactMatch Orphanet:3091 Congenital systemic veins anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017717 obsolete metabolic disease due to other fatty acid oxidation disorder skos:exactMatch Orphanet:309133 Metabolic disease due to other fatty acid oxidation disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017718 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes skos:exactMatch Orphanet:309136 Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017742 obsolete disorder of O-xylosylglycan synthesis skos:exactMatch Orphanet:309450 Disorder of O-xylosylglycan synthesis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017743 obsolete disorder of O-N-acetylgalactosaminylglycan synthesis skos:exactMatch Orphanet:309458 Disorder of O-N-acetylgalactosaminylglycan synthesis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017744 obsolete disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis skos:exactMatch Orphanet:309463 Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017745 obsolete disorder of O-mannosylglycan synthesis skos:exactMatch Orphanet:309469 Disorder of O-mannosylglycan synthesis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017760 obsolete disorder of other vitamins and cofactors metabolism and transport skos:exactMatch Orphanet:309833 Disorder of other vitamins and cofactors metabolism and transport semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017797 obsolete rare odontologic tumor skos:exactMatch Orphanet:314425 Rare odontogenic tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017820 obsolete obsolete disease with Cushing syndrome as a major feature skos:exactMatch Orphanet:314749 Rare disease with adrenal Cushing syndrome as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017841 obsolete autoimmune disease with skin involvement skos:exactMatch Orphanet:315350 Autoimmune disease with skin involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017891 obsolete inherited renal cancer-predisposing syndrome skos:exactMatch Orphanet:319328 Inherited renal cancer-predisposing syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017897 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency skos:exactMatch Orphanet:319535 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017898 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency skos:exactMatch Orphanet:319539 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017899 obsolete autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency skos:exactMatch Orphanet:319543 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017912 obsolete X-linked pure spastic paraplegia skos:exactMatch Orphanet:320332 X-linked pure spastic paraplegia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017914 obsolete pure or complex autosomal dominant spastic paraplegia skos:exactMatch Orphanet:320342 Pure or complex autosomal dominant spastic paraplegia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017915 obsolete pure or complex autosomal recessive spastic paraplegia skos:exactMatch Orphanet:320346 Pure or complex autosomal recessive spastic paraplegia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017916 obsolete pure or complex X-linked spastic paraplegia skos:exactMatch Orphanet:320350 Pure or complex X-linked spastic paraplegia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017954 obsolete pyogenic autoinflammatory syndrome skos:exactMatch Orphanet:324927 Pyogenic autoinflammatory syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017955 obsolete granulomatous autoinflammatory syndrome skos:exactMatch Orphanet:324930 Granulomatous autoinflammatory syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017956 obsolete mixed autoinflammatory and autoimmune syndrome skos:exactMatch Orphanet:324933 Mixed autoinflammatory and autoimmune syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017957 obsolete unclassified autoinflammatory syndrome skos:exactMatch Orphanet:324936 Unclassified autoinflammatory syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017961 obsolete 46,XX disorder of gonadal development skos:exactMatch Orphanet:325055 46,XX disorder of gonadal development semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017962 obsolete 46,XX disorder of sex development induced by fetoplacental androgens excess skos:exactMatch Orphanet:325061 46,XX difference of sex development induced by fetoplacental androgens excess semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017963 obsolete 46,XX disorder of sex development induced by endogenous maternal-derived androgen skos:exactMatch Orphanet:325093 46,XX difference of sex development induced by endogenous maternal-derived androgen semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017964 obsolete 46,XX disorder of sex development induced by exogenous maternal-derived androgen skos:exactMatch Orphanet:325099 46,XX difference of sex development induced by exogenous maternal-derived androgen semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017965 obsolete syndrome with 46,XX disorder of sex development skos:exactMatch Orphanet:325109 Syndrome with 46,XX difference of sex development semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017966 obsolete 46,XY disorder of gonadal development skos:exactMatch Orphanet:325118 46,XY disorder of gonadal development semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017969 obsolete 46,XY disorder of sex development of endocrine origin skos:exactMatch Orphanet:325351 46,XY difference of sex development of endocrine origin semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017976 obsolete disorder of sex development of gynecological interest skos:exactMatch Orphanet:325620 Difference of sex development of gynecological interest semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017977 obsolete 46,XY disorder of sex development of gynecological interest skos:exactMatch Orphanet:325632 46,XY difference of sex development of gynecological interest semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017978 obsolete syndrome with disorder of sex development of gynecological interest skos:exactMatch Orphanet:325638 Syndrome with difference of sex development of gynecological interest semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018033 obsolete other immunodeficiency syndromes due to defects in innate immunity skos:exactMatch Orphanet:331193 Other immunodeficiency syndromes due to defects in innate immunity semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018035 obsolete syndrome with combined immunodeficiency skos:exactMatch Orphanet:331217 Syndrome with combined immunodeficiency semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018038 obsolete immunodeficiency with isotype or light chain deficiencies with normal number of B-cells skos:exactMatch Orphanet:331232 Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018041 obsolete other immunodeficiency syndrome with predominantly antibody defects skos:exactMatch Orphanet:331244 Other immunodeficiency syndrome with predominantly antibody defects semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018118 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement skos:exactMatch Orphanet:352306 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018119 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement skos:exactMatch Orphanet:352309 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018120 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement skos:exactMatch Orphanet:352312 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018157 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis skos:exactMatch Orphanet:35696 Mitochondrial disorder due to a defect in mitochondrial protein synthesis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018185 obsolete congenital anomaly of the great veins skos:exactMatch Orphanet:363189 Congenital anomaly of the great veins semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018187 obsolete hereditary syndromic Pierre Robin syndrome skos:exactMatch Orphanet:363294 Genetic syndromic Pierre Robin syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018188 obsolete hereditary intestinal polyposis skos:exactMatch Orphanet:363314 Genetic intestinal polyposis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018191 obsolete tumor of testis and paratestis skos:exactMatch Orphanet:363472 Tumor of testis and paratestis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018200 obsolete acute encephalopathy with inflammation-mediated status epilepticus skos:exactMatch Orphanet:363567 Acute encephalopathy with inflammation-mediated status epilepticus semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018231 obsolete primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments skos:exactMatch Orphanet:364531 Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018232 obsolete primary bone dysplasia with micromelia skos:exactMatch Orphanet:364536 Primary bone dysplasia with micromelia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018235 obsolete dysostosis with limb anomaly as a major feature skos:exactMatch Orphanet:364568 Dysostosis with limb anomaly as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018236 obsolete dysostosis with limb and face anomalies as a major feature skos:exactMatch Orphanet:364571 Dysostosis with limb and face anomalies as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018239 obsolete aggrecan-related bone disorder skos:exactMatch Orphanet:364817 Aggrecan-related bone disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018246 obsolete homozygous 2p21 microdeletion syndrome skos:exactMatch Orphanet:369886 Homozygous 2p21 microdeletion syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018262 obsolete fetal anticonvulsant syndrome skos:exactMatch Orphanet:370068 Fetal anticonvulsant syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018265 obsolete rare disorder with dystonia and other neurologic or systemic manifestation skos:exactMatch Orphanet:370106 Rare disorder with dystonia and other neurologic or systemic manifestation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018283 obsolete primary qualitative or quantitative defects of alpha-dystroglycan skos:exactMatch Orphanet:371040 Primary qualitative or quantitative defects of alpha-dystroglycan semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018284 obsolete congenital disorder of glycosylation with neurological involvement skos:exactMatch Orphanet:371047 Congenital disorder of glycosylation with neurological involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018287 obsolete congenital disorder of glycosylation with epilepsy as a major feature skos:exactMatch Orphanet:371071 Congenital disorder of glycosylation with epilepsy as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018288 obsolete congenital disorder of glycosylation with hepatic involvement skos:exactMatch Orphanet:371157 Congenital disorder of glycosylation with hepatic involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018290 obsolete congenital disorder of glycosylation with cardiac malformation as a major feature skos:exactMatch Orphanet:371183 Congenital disorder of glycosylation with cardiac malformation as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018291 obsolete congenital disorder of glycosylation with intestinal involvement skos:exactMatch Orphanet:371188 Congenital disorder of glycosylation with intestinal involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018292 obsolete congenital disorder of glycosylation-related bone disorder skos:exactMatch Orphanet:371195 Congenital disorder of glycosylation-related bone disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018293 obsolete congenital disorder of glycosylation with skin involvement skos:exactMatch Orphanet:371200 Congenital disorder of glycosylation with skin involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018294 obsolete congenital disorder of glycosylation with nephropathy as a major feature skos:exactMatch Orphanet:371207 Congenital disorder of glycosylation with nephropathy as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018295 obsolete congenital disorder of glycosylation with deafness as a major feature skos:exactMatch Orphanet:371212 Congenital disorder of glycosylation with deafness as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018296 obsolete congenital disorder of glycosylation with developmental anomaly skos:exactMatch Orphanet:371235 Congenital disorder of glycosylation with developmental anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018299 obsolete sphingolipidosis with epilepsy skos:exactMatch Orphanet:371442 Sphingolipidosis with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018318 obsolete disorder of asparagine metabolism skos:exactMatch Orphanet:391381 Disorder of asparagine metabolism semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018329 obsolete persistent combined dystonia skos:exactMatch Orphanet:391711 Persistent combined dystonia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018368 primary peritoneal serous/papillary carcinoma skos:exactMatch Orphanet:398980 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018377 obsolete rare hereditary disease with avascular necrosis skos:exactMatch Orphanet:399185 Rare hereditary disease with avascular necrosis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018384 obsolete avascular necrosis of genetic origin skos:exactMatch Orphanet:399388 Avascular necrosis of genetic origin semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018385 obsolete osteochondrosis of genetic origin skos:exactMatch Orphanet:399391 Osteochondrosis of genetic origin semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018386 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder skos:exactMatch Orphanet:399572 Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018387 obsolete rare male infertility due to adrenal disorder skos:exactMatch Orphanet:399584 Rare male infertility due to adrenal disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018388 obsolete rare male infertility due to testicular endocrine disorder skos:exactMatch Orphanet:399685 Rare male infertility due to testicular endocrine disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018389 obsolete male infertility due to gonadal dysgenesis or sperm disorder skos:exactMatch Orphanet:399764 Male infertility due to gonadal dysgenesis or sperm disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018390 obsolete male infertility due to sperm disorder skos:exactMatch Orphanet:399771 Male infertility due to sperm disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018391 obsolete male infertility with spermatogenesis disorder skos:exactMatch Orphanet:399775 Male infertility with spermatogenesis disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018392 obsolete male infertility with spermatogenesis disorder due to single gene mutation skos:exactMatch Orphanet:399786 Male infertility with spermatogenesis disorder due to single gene mutation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018395 obsolete male infertility due to sperm motility disorder skos:exactMatch Orphanet:399813 Male infertility due to sperm motility disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018396 obsolete rare male fertility disorder with obstructive azoospermia skos:exactMatch Orphanet:399824 Rare disorder with obstructive azoospermia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018397 obsolete female infertility due to hypothalamic-pituitary-gonadal axis disorder skos:exactMatch Orphanet:399831 Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018398 obsolete female infertility due to a congenital hypogonadotropic hypogonadism skos:exactMatch Orphanet:399839 Rare female infertility due to a congenital hypogonadotropic hypogonadism semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018400 obsolete rare female infertility due to an adrenal disorder skos:exactMatch Orphanet:399849 Rare female infertility due to an adrenal disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018401 obsolete female infertility due to an anomaly of ovarian function skos:exactMatch Orphanet:399853 Rare female infertility due to an anomaly of ovarian function semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018402 obsolete female infertility due to gonadal dysgenesis skos:exactMatch Orphanet:399877 Rare female infertility due to gonadal dysgenesis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018403 obsolete female infertility due to an implantation defect skos:exactMatch Orphanet:399882 Rare female infertility due to an implantation defect semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018404 obsolete rare genetic male infertility skos:exactMatch Orphanet:399980 Rare genetic male infertility semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018405 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin skos:exactMatch Orphanet:399983 Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018406 obsolete rare male infertility due to adrenal disorder of genetic origin skos:exactMatch Orphanet:399994 Rare male infertility due to adrenal disorder of genetic origin semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018407 obsolete male infertility due to obstructive azoospermia of genetic origin skos:exactMatch Orphanet:399998 Male infertility due to obstructive azoospermia of genetic origin semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018409 obsolete rare genetic disorder with obstructive azoospermia skos:exactMatch Orphanet:400003 Rare genetic disorder with obstructive azoospermia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018410 obsolete rare genetic female infertility skos:exactMatch Orphanet:400008 Rare genetic female infertility semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018411 obsolete rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin skos:exactMatch Orphanet:400011 Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018412 obsolete rare female infertility due to adrenal disorder of genetic origin skos:exactMatch Orphanet:400018 Rare female infertility due to adrenal disorder of genetic origin semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018413 obsolete female infertility due to an anomaly of ovarian function of genetic origin skos:exactMatch Orphanet:400022 Rare female infertility due to an anomaly of ovarian function of genetic origin semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018414 obsolete female infertility due to an implantation defect of genetic origin skos:exactMatch Orphanet:400025 Female infertility due to an implantation defect of genetic origin semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018444 obsolete female infertility due to fertilization defect skos:exactMatch Orphanet:404469 Rare female infertility due to oocyte maturation defect semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018451 obsolete X-linked distal hereditary motor neuropathy skos:exactMatch Orphanet:404538 X-linked distal hereditary motor neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018454 obsolete dysostosis of genetic origin skos:exactMatch Orphanet:404568 Dysostosis of genetic origin semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018455 obsolete dysostosis of genetic origin with limb anomaly as a major feature skos:exactMatch Orphanet:404571 Dysostosis of genetic origin with limb anomaly as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018457 obsolete rare genetic bone development disorder skos:exactMatch Orphanet:404584 Rare genetic bone development disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018488 obsolete rare genetic odontal or periodontal disorder skos:exactMatch Orphanet:420755 Rare genetic odontal or periodontal disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018496 obsolete ARX-related encephalopathy-brain malformation spectrum skos:exactMatch Orphanet:423655 ARX-related encephalopathy-brain malformation spectrum semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018497 obsolete rare autonomic nervous system disorder skos:exactMatch Orphanet:423662 Rare autonomic nervous system disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018501 obsolete rare carcinoma of stomach skos:exactMatch Orphanet:423771 Rare carcinoma of stomach semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018520 obsolete rare epithelial tumor of pancreas skos:exactMatch Orphanet:424033 Rare epithelial tumor of pancreas semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018529 obsolete qualitative or quantitative defects of Torsin-1A-interacting protein 1 skos:exactMatch Orphanet:424925 Qualitative or quantitative defects of Torsin-1A-interacting protein 1 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018538 obsolete inherited digestive cancer-predisposing syndrome skos:exactMatch Orphanet:425003 Inherited digestive cancer-predisposing syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018545 obsolete primary immunodeficiency with predisposition to severe viral infection skos:exactMatch Orphanet:431156 Primary immunodeficiency with predisposition to severe viral infection semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018549 obsolete late-onset scapuloperoneal muscular dystrophy with hyaline bodies skos:exactMatch Orphanet:431263 Late-onset scapuloperoneal muscular dystrophy with hyaline bodies semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018550 obsolete spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder skos:exactMatch Orphanet:431320 Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018557 obsolete rare genetic autonomic nervous system disorder skos:exactMatch Orphanet:434786 Rare genetic autonomic nervous system disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018558 obsolete syndrome with wooly hair skos:exactMatch Orphanet:434809 Syndrome with woolly hair semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018562 obsolete hereditary otorhinolaryngological malformation skos:exactMatch Orphanet:435603 Genetic otorhinolaryngological malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018579 obsolete disorder of ketone body transport skos:exactMatch Orphanet:438072 Disorder of keton body transport semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018609 obsolete syndromic hereditary optic neuropathy skos:exactMatch Orphanet:441434 Syndromic hereditary optic neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018652 obsolete biological anomaly without phenotypic characterization skos:exactMatch Orphanet:447874 Biological anomaly without phenotypic characterization semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018701 obsolete congenital nemaline myopathy skos:exactMatch Orphanet:457074 Congenital nemaline myopathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018718 obsolete vascular tumor with associated anomalies skos:exactMatch Orphanet:458827 Vascular tumor with associated anomalies semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018719 obsolete obsolete rare capillary malformation with associated anomalies skos:exactMatch Orphanet:458830 Rare capillary malformation with associated anomalies semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018720 obsolete common cystic lymphatic malformation skos:exactMatch Orphanet:458833 Common cystic lymphatic malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018721 obsolete rare combined vascular malformation skos:exactMatch Orphanet:458837 Rare combined vascular malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018723 obsolete rare vascular malformation of major vessels skos:exactMatch Orphanet:458844 Rare vascular malformation of major vessels semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018727 obsolete immunodeficiency due to a complement regulatory deficiency skos:exactMatch Orphanet:459348 Immunodeficiency due to a complement regulatory deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018728 obsolete rare genetic capillary malformation skos:exactMatch Orphanet:459526 Rare genetic capillary malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018729 obsolete genetic vascular tumor skos:exactMatch Orphanet:459543 Rare genetic vascular tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018730 obsolete rare genetic venous malformation skos:exactMatch Orphanet:459548 Rare genetic venous malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018731 obsolete lethal multiple congenital anomalies/dysmorphic syndrome skos:exactMatch Orphanet:459787 Lethal multiple congenital anomalies/dysmorphic syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018743 obsolete immune-mediated acquired neuromuscular junction disease skos:exactMatch Orphanet:464764 Immune-mediated acquired neuromuscular junction disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018753 obsolete rare disease with malignant hyperthermia skos:exactMatch Orphanet:466658 Rare disease with malignant hyperthermia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018771 obsolete congenital anomaly of ventricular septum skos:exactMatch Orphanet:474347 Rare congenital anomaly of ventricular septum semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018775 obsolete axonal hereditary motor and sensory neuropathy skos:exactMatch Orphanet:476109 Axonal hereditary motor and sensory neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018779 obsolete hypercontractile muscle stiffness syndrome skos:exactMatch Orphanet:476403 Hypercontractile muscle stiffness syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018787 obsolete genetic cerebral small vessel disease skos:exactMatch Orphanet:477754 Genetic cerebral small vessel disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018788 obsolete COL4A1 or COL4A2-related cerebral small vessel disease skos:exactMatch Orphanet:477759 COL4A1 or COL4A2-related cerebral small vessel disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018789 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy skos:exactMatch Orphanet:477762 COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018790 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy skos:exactMatch Orphanet:477765 COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018791 obsolete Moyomoya angiopathy skos:exactMatch Orphanet:477768 Moyamoya angiopathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018792 obsolete Moyamoya syndrome skos:exactMatch Orphanet:477771 Rare disorder with a moyamoya angiopathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018796 obsolete isolated constitutional thrombocytopenia skos:exactMatch Orphanet:477797 Isolated constitutional thrombocytopenia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018797 obsolete genetic cardiac malformation skos:exactMatch Orphanet:477805 Genetic cardiac malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018798 obsolete other genetic dermis disorder skos:exactMatch Orphanet:477808 Other genetic dermis disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018799 obsolete rare hypercholesterolemia skos:exactMatch Orphanet:477811 Rare hypercholesterolemia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018831 obsolete HTRA1-related cerebral small vessel disease skos:exactMatch Orphanet:482072 HTRA1-related cerebral small vessel disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018833 obsolete rare idiopathic macular telangiectasia skos:exactMatch Orphanet:482092 Rare idiopathic macular telangiectasia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018880 obsolete rare teratologic disease skos:exactMatch Orphanet:52662 Rare teratologic disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018928 obsolete rare hepatic disease skos:exactMatch Orphanet:57146 Rare hepatic disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0018972 obsolete rare epithelial tumor of stomach skos:exactMatch Orphanet:63443 Rare epithelial tumor of stomach semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019038 obsolete rare maxillo-facial surgical disease skos:exactMatch Orphanet:68329 Rare maxillo-facial surgical disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019039 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect skos:exactMatch Orphanet:68334 Rare hemorrhagic disorder due to a constitutional coagulation factors defect semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019041 obsolete rare genetic inherited tumor skos:exactMatch Orphanet:68336 Rare genetic tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019043 obsolete rare genetic skin disease skos:exactMatch Orphanet:68346 Rare genetic skin disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019044 obsolete tumor of hematopoietic and lymphoid tissues skos:exactMatch Orphanet:68347 Tumor of hematopoietic and lymphoid tissues semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019047 obsolete rare deafness skos:exactMatch Orphanet:68361 Rare deafness semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019048 obsolete rare vascular disease skos:exactMatch Orphanet:68362 Rare vascular disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019049 obsolete rare dystonia skos:exactMatch Orphanet:68363 Rare dystonia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019058 obsolete neurometabolic disease skos:exactMatch Orphanet:68385 Neurometabolic disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019059 obsolete rare parkinsonian disorder skos:exactMatch Orphanet:68402 Rare parkinsonian disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019061 obsolete rare parathyroid disease and phosphocalcic metabolism anomaly skos:exactMatch Orphanet:68415 Rare parathyroid disease and phosphocalcic metabolism anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019062 obsolete rare infectious disease skos:exactMatch Orphanet:68416 Rare infectious disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019063 obsolete vascular anomaly skos:exactMatch Orphanet:68419 Vascular anomaly or angioma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019066 obsolete syndrome with brachydactyly skos:exactMatch Orphanet:69028 Dysostosis with brachydactyly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019096 obsolete rare pulmonary hypertension skos:exactMatch Orphanet:71198 Rare pulmonary hypertension semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019097 obsolete hemorrhagic disorder due to a constitutional platelet anomaly skos:exactMatch Orphanet:71202 Rare hemorrhagic disorder due to a constitutional platelet anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019099 obsolete rare soft tissue tumor skos:exactMatch Orphanet:71209 Rare soft tissue tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019110 obsolete rare central nervous system or retinal vascular disease skos:exactMatch Orphanet:71281 Rare central nervous system and retinal vascular disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019117 obsolete genetic nervous system disorder skos:exactMatch Orphanet:71859 Rare genetic neurological disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019183 obsolete inherited odontologic disease skos:exactMatch Orphanet:77830 Rare genetic odontologic disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019252 obsolete other metabolic disease with skin involvement skos:exactMatch Orphanet:79217 Other metabolic disease with skin involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019271 obsolete acrokeratoderma skos:exactMatch Orphanet:79356 Acrokeratoderma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019274 obsolete other epidermal disorder skos:exactMatch Orphanet:79359 Other epidermal disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019275 obsolete other genetic epidermal disease skos:exactMatch Orphanet:79360 Other genetic epidermal disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019277 obsolete epidermal appendage anomaly skos:exactMatch Orphanet:79362 Epidermal appendage anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019281 obsolete isolated genetic hair shaft abnormality skos:exactMatch Orphanet:79366 Isolated hair shaft abnormality semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019282 obsolete syndromic hair shaft abnormality skos:exactMatch Orphanet:79367 Syndromic hair shaft abnormality semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019285 obsolete syndromic nail anomaly skos:exactMatch Orphanet:79370 Syndromic nail anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019286 obsolete sebaceous gland anomaly skos:exactMatch Orphanet:79372 Sebaceous gland anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019292 obsolete dermis elastic tissue disorder skos:exactMatch Orphanet:79378 Dermis elastic tissue disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019298 obsolete rare urticaria skos:exactMatch Orphanet:79384 Rare urticaria semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019299 obsolete unclassified genetic skin disorder skos:exactMatch Orphanet:79385 Unclassified genetic skin disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019300 obsolete rare skin tumor or hamartoma skos:exactMatch Orphanet:79386 Rare skin tumor or hamartoma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019301 obsolete metabolic disease with skin involvement skos:exactMatch Orphanet:79387 Metabolic disease with skin involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019304 obsolete rare photodermatosis skos:exactMatch Orphanet:79390 Rare photodermatosis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019305 obsolete immune deficiency with skin involvement skos:exactMatch Orphanet:79391 Immune deficiency with skin involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019491 obsolete rare intellectual disability skos:exactMatch Orphanet:87277 Rare intellectual disability semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019513 obsolete esophageal malformation skos:exactMatch Orphanet:88993 Esophageal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019515 obsolete rare dementia skos:exactMatch Orphanet:89043 Rare dementia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019519 obsolete rare skin disease skos:exactMatch Orphanet:89826 Rare skin disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019546 obsolete other acquired skin disease skos:exactMatch Orphanet:90077 Other acquired skin disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019590 obsolete rare endocrine growth disease skos:exactMatch Orphanet:90692 Rare endocrine growth disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019593 obsolete 46,XX disorder of sex development induced by fetal androgens excess skos:exactMatch Orphanet:90776 46,XX difference of sex development induced by fetal androgens excess semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019599 obsolete primary lipodystrophy skos:exactMatch Orphanet:90970 Primary lipodystrophy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019602 obsolete other inborn metabolic disease skos:exactMatch Orphanet:91088 Other metabolic disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019608 obsolete 46,XX disorder of sex development induced by maternal-derived androgen skos:exactMatch Orphanet:91144 46,XX difference of sex development induced by maternal-derived androgen semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019619 obsolete duplication of the esophagus skos:exactMatch Orphanet:91357 Duplication of the esophagus semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019684 obsolete rare bone disease skos:exactMatch Orphanet:93419 Rare bone disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019688 obsolete sulfation-related bone disorder skos:exactMatch Orphanet:93423 Sulfation-related bone disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019689 obsolete perlecan-related bone disorder skos:exactMatch Orphanet:93424 Perlecan-related bone disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019692 obsolete multiple epiphyseal dysplasia and pseudoachondroplasia skos:exactMatch Orphanet:93429 Multiple epiphyseal dysplasia and pseudoachondroplasia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019704 obsolete primary bone dysplasia with decreased bone density skos:exactMatch Orphanet:93446 Primary bone dysplasia with decreased bone density semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019705 obsolete primary bone dysplasia with defective bone mineralization skos:exactMatch Orphanet:93447 Primary bone dysplasia with defective bone mineralization semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019709 obsolete cleidocranial dysplasia and isolated cranial ossification defect skos:exactMatch Orphanet:93451 Cleidocranial dysplasia and isolated cranial ossification defect semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019712 obsolete patellar dysostosis skos:exactMatch Orphanet:93455 Patellar dysostosis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019714 obsolete non-syndromic polydactyly, syndactyly and/or hyperphalangy skos:exactMatch Orphanet:93458 Non-syndromic polydactyly, syndactyly and/or hyperphalangy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019717 obsolete chromosomal disease with overgrowth skos:exactMatch Orphanet:93461 Chromosomal disease with overgrowth semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019743 obsolete nephropathy secondary to a storage or other metabolic disease skos:exactMatch Orphanet:93593 Nephropathy secondary to a storage or other metabolic disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019744 obsolete rare renal tubular disease skos:exactMatch Orphanet:93603 Rare renal tubular disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019747 obsolete hematological disorder with renal involvement skos:exactMatch Orphanet:93614 Hematological disorder with renal involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019748 obsolete rare cause of hypertension skos:exactMatch Orphanet:93618 Rare cause of hypertension semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019749 obsolete rare renal tumor skos:exactMatch Orphanet:93619 Rare renal tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019750 obsolete rare renal disease skos:exactMatch Orphanet:93626 Rare renal disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019800 obsolete chronic hepatic porphyria skos:exactMatch Orphanet:95161 Chronic hepatic porphyria semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019822 obsolete arterial duct anomaly skos:exactMatch Orphanet:95485 Arterial duct anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019827 obsolete disease associated with non-acquired combined pituitary hormone deficiency skos:exactMatch Orphanet:95495 Disease associated with non-acquired combined pituitary hormone deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019833 obsolete pituitary hormone deficiency from tumoral origin skos:exactMatch Orphanet:95503 Pituitary hormone deficiency of tumoral origin semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019834 obsolete pituitary hormone deficiency from meningeal origin skos:exactMatch Orphanet:95505 Pituitary hormone deficiency of meningeal origin semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019841 obsolete pituitary hormone defiency from vascular origin skos:exactMatch Orphanet:95611 Pituitary hormone deficiency of vascular origin semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019843 obsolete pituitary hormone deficiency secondary to a granulomatous disease skos:exactMatch Orphanet:95617 Pituitary hormone deficiency secondary to a granulomatous disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019844 obsolete pituitary hormone deficiency secondary to storage disease skos:exactMatch Orphanet:95618 Pituitary hormone deficiency secondary to storage disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019856 obsolete primary congenital hypothyroidism without thyroid developmental anomaly skos:exactMatch Orphanet:95714 Primary congenital hypothyroidism without thyroid developmental anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019859 obsolete congenital thyroid malformation without hypothyroidism skos:exactMatch Orphanet:95718 Congenital thyroid malformation without hypothyroidism semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019936 obsolete rare otorhinolaryngological malformation skos:exactMatch Orphanet:96333 Rare otorhinolaryngological malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019937 obsolete rare gynecologic or obstetric disease skos:exactMatch Orphanet:96344 Rare gynecologic or obstetric disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019965 obsolete rare benign ovarian tumor skos:exactMatch Orphanet:97293 Rare benign ovarian tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019996 obsolete rare cardiac disease skos:exactMatch Orphanet:97929 Rare cardiac disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019997 obsolete rare gastroenterologic disease skos:exactMatch Orphanet:97935 Rare gastroenterologic disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0019998 obsolete gastroduodenal malformation skos:exactMatch Orphanet:97944 Gastroduodenal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020000 obsolete rare respiratory disease skos:exactMatch Orphanet:97955 Rare respiratory disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020002 obsolete rare surgical thoracic disease skos:exactMatch Orphanet:97962 Rare surgical thoracic disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020003 obsolete rare surgical cardiac disease skos:exactMatch Orphanet:97965 Rare surgical cardiac disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020004 obsolete rare eye disease skos:exactMatch Orphanet:97966 Rare ophthalmic disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020005 obsolete rare endocrine disease skos:exactMatch Orphanet:97978 Rare endocrine disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020008 obsolete rare immune disease skos:exactMatch Orphanet:98004 Rare immune disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020009 obsolete rare neurologic disease skos:exactMatch Orphanet:98006 Rare neurologic disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020011 obsolete rare headache disorder skos:exactMatch Orphanet:98022 Rare headache semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020013 obsolete rare odontologic disease skos:exactMatch Orphanet:98026 Rare odontologic disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020014 obsolete rare disease with odontological manifestation skos:exactMatch Orphanet:98027 Rare disease with odontological manifestation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020015 obsolete rare circulatory system disease skos:exactMatch Orphanet:98028 Rare circulatory system disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020016 obsolete rare neurologic disease with psychiatric involvement skos:exactMatch Orphanet:98033 Rare neurologic disease with psychiatric involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020017 obsolete rare otorhinolaryngologic disease skos:exactMatch Orphanet:98036 Rare otorhinolaryngologic disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020018 obsolete cranial malformation skos:exactMatch Orphanet:98038 Cranial malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020019 obsolete digestive tract malformation skos:exactMatch Orphanet:98039 Digestive tract malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020020 obsolete visceral malformation of the liver, biliary tract, pancreas or spleen skos:exactMatch Orphanet:98041 Visceral malformation of the liver, biliary tract, pancreas or spleen semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020021 obsolete diaphragmatic or abdominal wall malformation skos:exactMatch Orphanet:98043 Diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020023 obsolete respiratory or mediastinal malformation skos:exactMatch Orphanet:98045 Respiratory or mediastinal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020024 obsolete rare infertility skos:exactMatch Orphanet:98047 Rare infertility semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020025 obsolete rare male infertility skos:exactMatch Orphanet:98048 Rare male infertility semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020026 obsolete rare female infertility skos:exactMatch Orphanet:98049 Rare female infertility semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020027 obsolete rare allergic disease skos:exactMatch Orphanet:98050 Rare allergic disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020028 obsolete rare allergic respiratory disease skos:exactMatch Orphanet:98052 Rare allergic respiratory disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020029 obsolete rare genetic cardiac disease skos:exactMatch Orphanet:98054 Rare genetic cardiac disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020030 obsolete rare genetic renal disease skos:exactMatch Orphanet:98056 Rare genetic renal disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020031 obsolete rare tumor skos:exactMatch Orphanet:98057 Rare tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020032 obsolete rare urinary tract tumor skos:exactMatch Orphanet:98058 Rare urinary tract tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020033 obsolete rare digestive tumor skos:exactMatch Orphanet:98059 Rare digestive tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020034 obsolete rare respiratory tract neoplasm skos:exactMatch Orphanet:98060 Rare respiratory tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020035 obsolete rare otorhinolaryngologic tumor skos:exactMatch Orphanet:98061 Rare otorhinolaryngologic tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020036 obsolete rare nervous system tumor skos:exactMatch Orphanet:98062 Rare nervous system tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020037 obsolete rare gynecological tumor skos:exactMatch Orphanet:98063 Rare gynecological tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020038 obsolete gonadal dysgenesis of gynecological interest skos:exactMatch Orphanet:98074 Gonadal dysgenesis of gynecological interest semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020039 obsolete 46,XX disorder of sex development induced by androgens excess skos:exactMatch Orphanet:98078 46,XX difference of sex development induced by androgens excess semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020042 obsolete syndrome with 46,XY disorder of sex development skos:exactMatch Orphanet:98087 Syndrome with 46,XY difference of sex development semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020050 obsolete autosomal trisomy skos:exactMatch Orphanet:98130 Autosomal trisomy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020051 obsolete total autosomal trisomy skos:exactMatch Orphanet:98131 Total autosomal trisomy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020052 obsolete partial autosomal trisomy/tetrasomy skos:exactMatch Orphanet:98132 Partial autosomal duplication/triplication semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020053 obsolete total autosomal monosomy skos:exactMatch Orphanet:98141 Total autosomal monosomy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020055 obsolete autosomal uniparental disomy skos:exactMatch Orphanet:98152 Autosomal uniparental disomy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020059 obsolete gonosome number anomaly skos:exactMatch Orphanet:98156 Sex-chromosome number anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020060 obsolete gonosome structural anomaly skos:exactMatch Orphanet:98157 Sex-chromosome structural anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020062 obsolete chromosome X structural anomaly skos:exactMatch Orphanet:98159 Chromosome X structural anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020063 obsolete malformation syndrome with hamartosis skos:exactMatch Orphanet:98196 Malformation syndrome with hamartosis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020069 obsolete chronic encephalitis skos:exactMatch Orphanet:98255 Chronic encephalitis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020090 obsolete male infertility due to gonadal dysgenesis skos:exactMatch Orphanet:98313 Male infertility due to gonadal dysgenesis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020091 obsolete male infertility due to obstructive azoospermia skos:exactMatch Orphanet:98343 Male infertility due to obstructive azoospermia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020093 obsolete autosomal dominant isolated diffuse palmoplantar keratoderma skos:exactMatch Orphanet:98349 Autosomal dominant isolated diffuse palmoplantar keratoderma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020094 obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:98352 Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020095 obsolete autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:98353 Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020096 obsolete autosomal recessive isolated diffuse palmoplantar keratoderma skos:exactMatch Orphanet:98356 Autosomal recessive isolated diffuse palmoplantar keratoderma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020097 obsolete autosomal recessive disease with focal palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:98357 Autosomal recessive disease with focal palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020098 obsolete constitutional anemia due to iron metabolism disorder skos:exactMatch Orphanet:98360 Constitutional anemia due to iron metabolism disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020100 obsolete rare hemolytic anemia skos:exactMatch Orphanet:98363 Rare hemolytic anemia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020101 obsolete constitutional hemolytic anemia due to membrane defect skos:exactMatch Orphanet:98364 Rare constitutional hemolytic anemia due to a red cell membrane anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020104 obsolete rare constitutional hemolytic anemia due to an enzyme disorder skos:exactMatch Orphanet:98369 Rare constitutional hemolytic anemia due to an enzyme disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020105 obsolete hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies skos:exactMatch Orphanet:98370 Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020109 obsolete constitutional megaloblastic anemia due to vitamin B12 metabolism disorder skos:exactMatch Orphanet:98396 Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020111 obsolete constitutional megaloblastic anemia due to folate metabolism disorder skos:exactMatch Orphanet:98408 Constitutional megaloblastic anemia due to folate metabolism disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020116 obsolete rare blood coagulation disease skos:exactMatch Orphanet:98429 Rare coagulation disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020125 obsolete acquired neuromuscular junction disease skos:exactMatch Orphanet:98494 Acquired neuromuscular junction disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020126 obsolete rare peripheral neuropathy skos:exactMatch Orphanet:98496 Rare peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020130 obsolete malformation of the cerebellar vermis skos:exactMatch Orphanet:98514 Malformation of the cerebellar vermis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020131 obsolete malformation of the cerebellar hemispheres skos:exactMatch Orphanet:98516 Malformation of the cerebellar hemispheres semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020132 obsolete cranial nerve and nuclear aplasia skos:exactMatch Orphanet:98518 Cranial nerve and nuclear aplasia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020133 obsolete posterior fossa malformation skos:exactMatch Orphanet:98519 Posterior fossa malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020136 obsolete neurodegenerative disease with dementia skos:exactMatch Orphanet:98534 Neurodegenerative disease with dementia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020137 obsolete frontotemporal degeneration with dementia skos:exactMatch Orphanet:98535 Frontotemporal degeneration with dementia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020138 obsolete ataxia with dementia skos:exactMatch Orphanet:98538 Ataxia with dementia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020139 obsolete early-onset ataxia with dementia skos:exactMatch Orphanet:98539 Early-onset ataxia with dementia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020140 obsolete late-onset ataxia with dementia skos:exactMatch Orphanet:98540 Late-onset ataxia with dementia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020141 obsolete infectious disease with dementia skos:exactMatch Orphanet:98542 Infectious disease with dementia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020142 obsolete metabolic disease with dementia skos:exactMatch Orphanet:98543 Metabolic disease with dementia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020144 obsolete cerebrovascular dementia skos:exactMatch Orphanet:98549 Rare cerebrovascular dementia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020148 obsolete syndromic aniridia skos:exactMatch Orphanet:98557 Syndromic aniridia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020151 obsolete rare palpebral disease skos:exactMatch Orphanet:98560 Rare palpebral disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020152 obsolete rare eyelid malformation skos:exactMatch Orphanet:98561 Congenital malformation of the eyelid semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020154 obsolete microblepharon-ablephara syndrome skos:exactMatch Orphanet:98563 Microblepharon-ablephara syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020155 obsolete eyelid border anomaly skos:exactMatch Orphanet:98564 Eyelid border anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020156 obsolete syndromic ankyloblepharon skos:exactMatch Orphanet:98565 Syndromic ankyloblepharon filiforme adnatum semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020157 obsolete syndromic palpebral coloboma skos:exactMatch Orphanet:98566 Syndromic eyelid coloboma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020158 obsolete eyelids malposition disorder skos:exactMatch Orphanet:98567 Rare eyelid malposition disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020162 obsolete secondary ectropion skos:exactMatch Orphanet:98571 Secondary ectropion semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020165 obsolete syndromic epicanthus skos:exactMatch Orphanet:98574 Syndromic epicanthus semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020167 obsolete malposition of external canthus skos:exactMatch Orphanet:98576 Syndromic outer canthal malposition semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020184 obsolete rare eyebrow/eyelashes anomaly skos:exactMatch Orphanet:98594 Rare eyebrow/eyelash disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020192 obsolete rare lacrimal system disease skos:exactMatch Orphanet:98602 Rare disorder of the lacrimal apparatus semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020195 obsolete excretory apparatus of the lacrimal system anomaly skos:exactMatch Orphanet:98605 Lacrimal drainage system anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020197 obsolete EEC syndrome and related syndrome skos:exactMatch Orphanet:98609 EEC syndrome and related disorders semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020198 obsolete rare conjunctival disease skos:exactMatch Orphanet:98610 Rare disorder with conjunctival involvement as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020206 obsolete rare refraction anomaly skos:exactMatch Orphanet:98618 Rare refraction anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020209 obsolete rare hyperopia and astigmatism skos:exactMatch Orphanet:98621 Rare hyperopia and astigmatism semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020210 obsolete syndromic hyperopia skos:exactMatch Orphanet:98622 Syndromic hyperopia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020211 obsolete syndromic keratoconus skos:exactMatch Orphanet:98623 Syndromic keratoconus semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020216 obsolete secondary dysgenetic glaucoma skos:exactMatch Orphanet:98631 Congenital malformation of the eye with glaucoma as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020219 obsolete corneogoniodysgenesis skos:exactMatch Orphanet:98635 Corneodysgenesis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020222 obsolete rare disease with glaucoma as a major feature skos:exactMatch Orphanet:98638 Rare disease with glaucoma as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020223 obsolete lens and zonula anomaly skos:exactMatch Orphanet:98639 Rare lens disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020224 obsolete rare cataract skos:exactMatch Orphanet:98640 Rare disorder with lens opacification semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020225 obsolete syndromic cataract skos:exactMatch Orphanet:98641 Syndromic cataract semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020226 obsolete chromosomal anomaly with cataract skos:exactMatch Orphanet:98642 Chromosomal anomaly with cataract semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020228 obsolete cataract associated with a metabolic disease skos:exactMatch Orphanet:98644 Metabolic disease with cataract semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020230 obsolete renal disease with cataract skos:exactMatch Orphanet:98646 Renal disease with cataract semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020232 obsolete musculoskeletal disease with cataract skos:exactMatch Orphanet:98648 Musculoskeletal disease with cataract semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020233 obsolete dentocutaneous disease with cataract skos:exactMatch Orphanet:98649 Dentocutaneous disease with cataract semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020234 obsolete craniofacial anomaly with cataract skos:exactMatch Orphanet:98650 Craniofacial anomaly with cataract semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020235 obsolete lens size anomaly skos:exactMatch Orphanet:98652 Lens size anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020236 obsolete lens position anomaly skos:exactMatch Orphanet:98653 Lens position anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020237 obsolete lens shape anomaly skos:exactMatch Orphanet:98655 Lens shape anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020240 obsolete syndromic retinitis pigmentosa skos:exactMatch Orphanet:98661 Syndromic rod-cone dystrophy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020251 obsolete rare strabismus and restriction syndrome skos:exactMatch Orphanet:98681 Rare disorder with strabismus semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020253 obsolete syndrome with a symptomatic strabismus skos:exactMatch Orphanet:98683 Syndromic disorder with strabismus semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020254 obsolete craniostenosis associated with a strabismus skos:exactMatch Orphanet:98684 Craniostenosis with strabismus semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020284 obsolete heart position anomaly skos:exactMatch Orphanet:98716 Heart position anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020285 obsolete transposition of the great arteries and conotruncal cardiac anomaly skos:exactMatch Orphanet:98717 Transposition of the great arteries and conotruncal cardiac anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020286 obsolete aortic malformation skos:exactMatch Orphanet:98718 Aortic malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020287 obsolete pulmonary artery or pulmonary branch anomaly skos:exactMatch Orphanet:98719 Pulmonary artery or pulmonary branch anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020288 obsolete atrioventricular valve anomaly skos:exactMatch Orphanet:98720 Atrioventricular valve anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020293 obsolete ascending aorta anomaly skos:exactMatch Orphanet:98725 Ascending aorta anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020294 obsolete atrial defect and interatrial communication skos:exactMatch Orphanet:98727 Rare atrial defect and interatrial communication semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020339 obsolete X-linked complex spastic paraplegia skos:exactMatch Orphanet:98888 X-linked complex spastic paraplegia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020343 obsolete alpha-crystallinopathy skos:exactMatch Orphanet:98910 Alpha-crystallinopathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0020999 obsolete genetic chronic primary adrenal insufficiency skos:exactMatch Orphanet:101960 Genetic chronic primary adrenal insufficiency semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0021027 obsolete genetic hair anomaly skos:exactMatch Orphanet:183450 Genetic hair anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0021028 obsolete genetic nail anomaly skos:exactMatch Orphanet:183454 Genetic nail anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0021034 obsolete hereditary alopecia skos:exactMatch Orphanet:481771 Genetic alopecia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0021037 obsolete genetic neurodegenerative disease with dementia skos:exactMatch Orphanet:276058 Genetic neurodegenerative disease with dementia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0021198 obsolete rare genetic disease skos:exactMatch Orphanet:98053 Rare genetic disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0022397 obsolete retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene skos:exactMatch Orphanet:156168 Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0022400 obsolete retinal ciliopathy due to mutation in the RPGRIP gene skos:exactMatch Orphanet:156174 Retinal ciliopathy due to mutation in the RPGRIP gene semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0022404 obsolete retinal ciliopathy due to mutation in Usher gene skos:exactMatch Orphanet:156177 Retinal ciliopathy due to mutation in Usher gene semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0022405 obsolete retinal ciliopathy due to mutation in nephronophthisis gene skos:exactMatch Orphanet:156180 Retinal ciliopathy due to mutation in nephronophthisis gene semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0022407 obsolete retinal ciliopathy due to mutation in Bardet-Biedl gene skos:exactMatch Orphanet:156183 Retinal ciliopathy due to mutation in Bardet-Biedl gene semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0022409 obsolete nephropathy-associated ciliopathy skos:exactMatch Orphanet:156162 Renal ciliopathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0024145 obsolete Pierre Robin syndrome associated with collagen disease skos:exactMatch Orphanet:138041 Pierre Robin syndrome associated with collagen disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0024147 obsolete Pierre Robin syndrome associated with a chromosomal anomaly skos:exactMatch Orphanet:138047 Pierre Robin syndrome associated with a chromosomal anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0024148 obsolete Pierre Robin syndrome associated with branchial archs anomalies skos:exactMatch Orphanet:138050 Pierre Robin syndrome associated with branchial archs anomalies semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0024149 obsolete Pierre Robin syndrome associated with bone disease skos:exactMatch Orphanet:138055 Pierre Robin syndrome associated with bone disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0024471 obsolete non-inflammatory vasculopathy skos:exactMatch Orphanet:496924 Non-inflammatory vasculopathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0024987 obsolete genetic urogenital tract malformation skos:exactMatch Orphanet:156622 Genetic urogenital tract malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0025511 obsolete inherited neuroendocrine tumor skos:exactMatch Orphanet:271847 Genetic neuroendocrine tumor semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0026141 obsolete genetic urticaria skos:exactMatch Orphanet:182734 Genetic urticaria semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0026150 obsolete genetic erythrokeratoderma skos:exactMatch Orphanet:183438 Genetic erythrokeratoderma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0026151 obsolete genetic acrokeratoderma skos:exactMatch Orphanet:183441 Genetic acrokeratoderma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0026152 obsolete genetic porokeratosis skos:exactMatch Orphanet:183444 Genetic porokeratosis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0026157 obsolete genetic pigmentation anomaly of the skin skos:exactMatch Orphanet:183463 Genetic pigmentation anomaly of the skin semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0026160 obsolete genetic dermis disorder skos:exactMatch Orphanet:183472 Genetic dermis disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0026166 obsolete genetic immune deficiency with skin involvement skos:exactMatch Orphanet:183494 Genetic immune deficiency with skin involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0026167 obsolete genetic neuromuscular disease skos:exactMatch Orphanet:183497 Genetic neuromuscular disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0026170 obsolete genetic central nervous system malformation skos:exactMatch Orphanet:183506 Genetic central nervous system malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0026173 obsolete rare genetic medullar disease skos:exactMatch Orphanet:183515 Rare genetic medullar disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0026180 obsolete genetic congenital limb malformation skos:exactMatch Orphanet:183536 Genetic congenital limb malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0026181 obsolete genetic renal or urinary tract malformation skos:exactMatch Orphanet:183539 Genetic renal or urinary tract malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0026182 obsolete genetic cranial malformation skos:exactMatch Orphanet:183542 Genetic cranial malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0026183 obsolete genetic digestive tract malformation skos:exactMatch Orphanet:183545 Genetic digestive tract malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0026184 obsolete genetic visceral malformation of the liver, biliary tract, pancreas or spleen skos:exactMatch Orphanet:183548 Genetic visceral malformation of the liver, biliary tract, pancreas or spleen semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0026185 obsolete genetic respiratory or mediastinal malformation skos:exactMatch Orphanet:183554 Genetic respiratory or mediastinal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0026186 obsolete genetic developmental defect of the eye skos:exactMatch Orphanet:183557 Genetic developmental defect of the eye semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0026187 obsolete genetic malformation syndrome with short stature skos:exactMatch Orphanet:183570 Genetic malformation syndrome with short stature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0026188 obsolete genetic overgrowth/obesity syndrome skos:exactMatch Orphanet:183573 Genetic overgrowth/obesity syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0026189 obsolete genetic branchial arch or oral-acral syndrome skos:exactMatch Orphanet:183576 Genetic branchial arch or oral-acral syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0026190 obsolete genetic malformation syndrome with odontal and/or periodontal component skos:exactMatch Orphanet:183580 Genetic malformation syndrome with odontal and/or periodontal component semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0026192 obsolete genetic glomerular disease skos:exactMatch Orphanet:183586 Genetic glomerular disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0026193 obsolete genetic thrombotic microangiopathy skos:exactMatch Orphanet:183589 Genetic thrombotic microangiopathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0026203 obsolete genetic respiratory malformation skos:exactMatch Orphanet:183622 Genetic respiratory malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0026209 obsolete genetic polyendocrinopathy skos:exactMatch Orphanet:183643 Genetic polyendocrinopathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0027652 5-fluorouracil toxicity skos:exactMatch Orphanet:240839 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0027653 abacavir toxicity skos:exactMatch Orphanet:240841 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0027655 allopurinol toxicity skos:exactMatch Orphanet:240845 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0027664 cisplatin toxicity skos:exactMatch Orphanet:240863 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0027666 codeine toxicity skos:exactMatch Orphanet:240867 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0027667 efavirenz toxicity skos:exactMatch Orphanet:240869 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0027668 flucloxacilline toxicity skos:exactMatch Orphanet:240871 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0027675 irinotecan toxicity skos:exactMatch Orphanet:240885 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0027677 isoniazid toxicity skos:exactMatch Orphanet:240887 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0027687 raltegravir toxicity skos:exactMatch Orphanet:240905 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0027696 voriconazole toxicity skos:exactMatch Orphanet:240921 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0027750 obsolete serpinopathy with toxic serpin polymerization skos:exactMatch Orphanet:250808 Serpinopathy with toxic serpin polymerization semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0027751 obsolete serpinopathy with loss of serpin function skos:exactMatch Orphanet:250811 Serpinopathy with loss of serpin function semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0027929 obsolete genetic polycythemia skos:exactMatch Orphanet:250165 Genetic polycythemia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0028569 obsolete genetic interstitial lung disease skos:exactMatch Orphanet:264992 Genetic interstitial lung disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0028618 obsolete gastroenteric neuroendocrine neoplasm skos:exactMatch Orphanet:481508 Gastroenteric neuroendocrine neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0028737 obsolete biliary atresia disorder skos:exactMatch Orphanet:498345 Biliary atresia and associated disorders semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0028795 obsolete rare genetic systemic or rheumatologic disease skos:exactMatch Orphanet:271870 Rare genetic systemic or rheumatologic disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0028868 obsolete genetic frontotemporal degeneration with dementia skos:exactMatch Orphanet:276061 Genetic frontotemporal degeneration with dementia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0029014 obsolete rare systemic or rheumatological disease of childhood skos:exactMatch Orphanet:280342 Rare systemic or rheumatological disease of childhood semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0029102 obsolete autosomal ichthyosis syndrome with other associated signs skos:exactMatch Orphanet:281244 Autosomal ichthyosis syndrome with other associated signs semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0029810 obsolete laminopathy with striated muscle involvement skos:exactMatch Orphanet:300755 Laminopathy with striated muscle involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0029811 obsolete laminopathy with peripheral neuropathy skos:exactMatch Orphanet:300758 Laminopathy with peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0029812 obsolete laminopathy with lipodystrophy skos:exactMatch Orphanet:300763 Laminopathy with lipodystrophy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0029813 obsolete laminopathy with premature aging skos:exactMatch Orphanet:300766 Laminopathy with premature aging semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0030767 obsolete genetic tumor of hematopoietic and lymphoid tissues skos:exactMatch Orphanet:322126 Genetic tumor of hematopoietic and lymphoid tissues semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0031004 obsolete genetic disorder of sex development of gynecological interest skos:exactMatch Orphanet:325665 Genetic difference of sex development of gynecological interest semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0031016 obsolete genetic disorder of sex development skos:exactMatch Orphanet:325690 Genetic difference of sex development semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0031689 obsolete genetic progeroid syndrome skos:exactMatch Orphanet:363245 Genetic progeroid syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0031697 obsolete genetic intractable diarrhea of infancy skos:exactMatch Orphanet:363300 Genetic intractable diarrhea of infancy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0031698 obsolete genetic intestinal disease due to fat malabsorption skos:exactMatch Orphanet:363306 Genetic intestinal disease due to fat malabsorption semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0031949 obsolete genetic neurovascular malformation skos:exactMatch Orphanet:371436 Genetic neurovascular malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0031952 obsolete genetic syndromic esophageal malformation skos:exactMatch Orphanet:371445 Genetic syndromic esophageal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0032011 obsolete biological anomaly skos:exactMatch Orphanet:377790 Biological anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0032013 obsolete clinical syndrome skos:exactMatch Orphanet:377792 Clinical syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0032014 obsolete particular clinical situation in a disease or syndrome skos:exactMatch Orphanet:377793 Particular clinical situation in a disease or syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0032221 obsolete rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism skos:exactMatch Orphanet:399846 Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0033056 obsolete genetic facial cleft skos:exactMatch Orphanet:414726 Genetic facial cleft semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0033169 curariform drugs toxicity skos:exactMatch Orphanet:413693 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0033170 statin toxicity skos:exactMatch Orphanet:413696 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0033181 phenytoin or carbamazepine toxicity skos:exactMatch Orphanet:414750 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0033329 obsolete genetic precocious puberty skos:exactMatch Orphanet:435554 Genetic precocious puberty semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0033331 obsolete genetic precocious puberty in female skos:exactMatch Orphanet:435564 Genetic precocious puberty in female semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0033334 obsolete genetic nose and cavum anomaly skos:exactMatch Orphanet:435606 Genetic nose and cavum anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0033335 obsolete genetic larynx anomaly skos:exactMatch Orphanet:435609 Genetic larynx anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0033336 obsolete genetic tracheal anomaly skos:exactMatch Orphanet:435612 Genetic tracheal anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0033927 obsolete genetic complex vascular malformation with associated anomalies skos:exactMatch Orphanet:459537 Genetic complex vascular malformation with associated anomalies semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0034039 obsolete genetic hemoglobinopathy skos:exactMatch Orphanet:466066 Genetic hemoglobinopathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0034443 obsolete genetic non-acquired premature ovarian failure skos:exactMatch Orphanet:485382 Genetic premature ovarian failure semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0034641 obsolete rare genetic hyperkinetic movement disorder skos:exactMatch Orphanet:496916 Rare genetic hyperkinetic movement disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0034661 obsolete syndromic biliary atresia skos:exactMatch Orphanet:498350 Syndromic biliary atresia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0034667 obsolete longitudinal limb defect skos:exactMatch Orphanet:498457 Longitudinal limb defect semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0034668 obsolete terminal transverse limb defect skos:exactMatch Orphanet:498461 Terminal transverse limb defect semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0034669 obsolete non-syndromic preaxial polydactyly skos:exactMatch Orphanet:498464 Non-syndromic preaxial polydactyly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0034670 obsolete non-syndromic postaxial polydactyly skos:exactMatch Orphanet:498467 Non-syndromic postaxial polydactyly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0034671 obsolete non-syndromic complex polydactyly skos:exactMatch Orphanet:498470 Non-syndromic complex polydactyly semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0034733 obsolete cochlear nerve deficiency skos:exactMatch Orphanet:502318 Cochlear nerve deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0034901 obsolete ATP13A2-related parkinsonism skos:exactMatch Orphanet:514980 ATP13A2-related parkinsonism semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0034923 obsolete inflammatory/autoimmune disorder involving the lacrimal system skos:exactMatch Orphanet:519264 Inflammatory/autoimmune disorder involving the lacrimal system semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0034926 obsolete rare disorder with entropion skos:exactMatch Orphanet:519270 Rare disorder with entropion semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0034931 obsolete rare conjunctivitis skos:exactMatch Orphanet:519280 Rare conjunctivitis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0034937 obsolete syndromic ectopia lentis skos:exactMatch Orphanet:519292 Syndromic ectopia lentis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0034943 obsolete isolated vitreoretinopathy skos:exactMatch Orphanet:519304 Isolated vitreoretinopathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0034953 obsolete syndromic inherited retinal disorder skos:exactMatch Orphanet:519325 Syndromic inherited retinal disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0034954 obsolete syndromic vitreoretinopathy skos:exactMatch Orphanet:519327 Syndromic vitreoretinopathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0034961 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature skos:exactMatch Orphanet:519341 Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0034962 obsolete rare ophthalmic disorder with cortical involvement skos:exactMatch Orphanet:519343 Rare ophthalmic disorder with cortical involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0034965 obsolete rare ophthalmic disorder with cranial nerve involvement skos:exactMatch Orphanet:519349 Rare ophthalmic disorder with cranial nerve involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0034968 obsolete rare ocular motility/alignment disorder skos:exactMatch Orphanet:519355 Rare ocular motility/alignment disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0034977 obsolete isolated microspherophakia skos:exactMatch Orphanet:519396 Isolated microspherophakia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0035001 obsolete rare disorder of the visual organs skos:exactMatch Orphanet:520814 Rare disorder of the visual organs semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0035002 obsolete isolated inherited retinal disorder skos:exactMatch Orphanet:520817 Isolated inherited retinal disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0035013 obsolete genetic primary orthostatic disorder skos:exactMatch Orphanet:521232 Genetic primary orthostatic disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0035014 obsolete primary orthostatic disorder skos:exactMatch Orphanet:521236 Primary orthostatic disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0035037 obsolete rare genetic disorder of the visual organs skos:exactMatch Orphanet:522504 Rare genetic disorder of the visual organs semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0035075 obsolete secondary early-onset glaucoma of genetic origin skos:exactMatch Orphanet:522580 Secondary early-onset glaucoma of genetic origin semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0035162 obsolete PIK3CA-related overgrowth syndrome skos:exactMatch Orphanet:530313 PIK3CA-related overgrowth syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0035274 obsolete anomaly of the coronary ostia skos:exactMatch Orphanet:542822 Anomaly of the coronary ostia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0035328 obsolete rare disorder due to poisoning skos:exactMatch Orphanet:556508 Rare disorder due to poisoning semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0035426 obsolete rare disorder potentially indicated for transplant or complication after transplantation skos:exactMatch Orphanet:565779 Rare disorder potentially indicated for transplant or complication after transplantation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0035469 obsolete primary lymphedema without systemic or visceral involvement skos:exactMatch Orphanet:568041 Primary lymphedema without systemic or visceral involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0035470 obsolete primary lymphedema with systemic or visceral involvement skos:exactMatch Orphanet:568044 Primary lymphedema with systemic or visceral involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0035471 obsolete disorder with multisystemic involvement and primary lymphedema skos:exactMatch Orphanet:568047 Disorder with multisystemic involvement and primary lymphedema semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0035561 obsolete sporadic human prion disease skos:exactMatch Orphanet:576356 Sporadic human prion disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0035645 obsolete inherited gynecological cancer-predisposing syndrome skos:exactMatch Orphanet:589746 Inherited gynecological cancer-predisposing syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0035682 obsolete fibrous dysplasia/McCune-Albright syndrome skos:exactMatch Orphanet:595216 Fibrous dysplasia/McCune-Albright syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0035684 obsolete epidermolysis bullosa simplex without extracutaneous involvement skos:exactMatch Orphanet:595346 Epidermolysis bullosa simplex without extracutaneous involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0035685 obsolete epidermolysis bullosa simplex with extracutaneous involvement skos:exactMatch Orphanet:595351 Epidermolysis bullosa simplex with extracutaneous involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0035689 obsolete syndrome of reduced sensitivity to thyroid hormone skos:exactMatch Orphanet:596426 Syndrome of reduced sensitivity to thyroid hormone semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0035786 obsolete non-syndromic cloacal malformation skos:exactMatch Orphanet:600998 Non-syndromic cloacal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0035862 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome skos:exactMatch Orphanet:611314 Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0035863 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability skos:exactMatch Orphanet:611327 Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0035875 ivermectin toxicity skos:exactMatch Orphanet:574637 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0035876 belinostat toxicity or dose selection skos:exactMatch Orphanet:574671 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0036025 toxicity to dolutegravir skos:exactMatch Orphanet:596744 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0037716 obsolete rare genetic deafness skos:exactMatch Orphanet:96210 Rare genetic deafness semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0037860 obsolete rare systemic or rheumatologic disease skos:exactMatch Orphanet:98023 Rare systemic or rheumatologic disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0038261 obsolete genetic neurological channelopathy of the central nervous system skos:exactMatch Orphanet:98743 Genetic neurological channelopathy of the central nervous system semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0038268 obsolete autoimmune neurological channelopathy skos:exactMatch Orphanet:98750 Autoimmune neurological channelopathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0043005 obsolete genetic multiple congenital anomalies/dysmorphic syndrome skos:exactMatch Orphanet:183533 Genetic multiple congenital anomalies/dysmorphic syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0043008 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability skos:exactMatch Orphanet:330206 Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044636 obsolete rare hyperkinetic movement disorder skos:exactMatch Orphanet:494457 Rare hyperkinetic movement disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044655 obsolete c12orf65-related combined oxidative phosphorylation defect skos:exactMatch Orphanet:497623 C12ORF65-related combined oxidative phosphorylation defect semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0100491 generalized pustular psoriasis skos:exactMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label generalized pustular psoriasis LEXMATCH -MONDO:0800084 obsolete primary bone dysplasia with increased bone density skos:exactMatch Orphanet:93444 Primary bone dysplasia with increased bone density semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0800087 obsolete type 11 collagen-related bone disorder skos:exactMatch Orphanet:93422 Type 11 collagen-related bone disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0800089 obsolete primary bone dysplasia with disorganized development of skeletal components skos:exactMatch Orphanet:93450 Primary bone dysplasia with disorganized development of skeletal components semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0800090 obsolete ectrodactyly with and without other manifestations skos:exactMatch Orphanet:498477 Ectrodactyly with and without other manifestations semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0800091 obsolete overgrowth or tall stature syndrome with skeletal involvement skos:exactMatch Orphanet:498448 Overgrowth or tall stature syndrome with skeletal involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0800092 obsolete hereditary inflammatory or rheumatoid-like osteoarthropathy skos:exactMatch Orphanet:498445 Genetic inflammatory or rheumatoid-like osteoarthropathy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0800093 obsolete dysostosis with brachydactyly without extraskeletal manifestations skos:exactMatch Orphanet:498451 Dysostosis with brachydactyly without extraskeletal manifestations semapv:UnspecifiedMatching MONDO_MAPPINGS -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:0957001 obsolete hereditary mixed dermis disorder skos:exactMatch Orphanet:183481 Genetic mixed dermis disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0957009 obsolete hereditary posterior fossa malformation skos:exactMatch Orphanet:269557 Genetic posterior fossa malformation semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0957024 obsolete hereditary 46,XX disorder of sex development skos:exactMatch Orphanet:325697 Genetic 46,XX difference of sex development semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0957025 obsolete hereditary 46,XY disorder of sex development skos:exactMatch Orphanet:325706 Genetic 46,XY difference of sex development 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 +subject_id subject_label predicate_id object_id object_label mapping_justification comment +MONDO:0015076 obsolete rare parathyroid tumor skos:exactMatch Orphanet:100090 Rare parathyroid tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015081 obsolete neuroendocrine tumor with other location skos:exactMatch Orphanet:100101 Neuroendocrine tumor with other location semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015088 obsolete autosomal dominant pure spastic paraplegia skos:exactMatch Orphanet:100980 Autosomal dominant pure spastic paraplegia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015089 obsolete autosomal recessive complex spastic paraplegia skos:exactMatch Orphanet:100981 Autosomal recessive complex spastic paraplegia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015090 obsolete autosomal recessive pure spastic paraplegia skos:exactMatch Orphanet:100982 Autosomal recessive pure spastic paraplegia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015106 obsolete rare urogenital disease skos:exactMatch Orphanet:101433 Rare urogenital disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015107 obsolete rare genetic eye disease skos:exactMatch Orphanet:101435 Rare genetic eye disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015110 obsolete genetic cardiac rhythm disease skos:exactMatch Orphanet:101934 Genetic cardiac rhythm disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015111 obsolete gastroesophageal disease skos:exactMatch Orphanet:101936 Rare gastroesophageal disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015112 obsolete rare pancreatic disease skos:exactMatch Orphanet:101937 Rare pancreatic disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015113 obsolete rare vascular liver disease skos:exactMatch Orphanet:101938 Rare vascular liver disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015114 obsolete rare parenchymal liver disease skos:exactMatch Orphanet:101939 Rare parenchymal liver disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015115 obsolete rare genetic metabolic liver disease skos:exactMatch Orphanet:101940 Rare metabolic liver disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015116 obsolete rare biliary tract disease skos:exactMatch Orphanet:101941 Rare biliary tract disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015117 obsolete rare hepatic and biliary tract tumor skos:exactMatch Orphanet:101943 Rare hepatic and biliary tract tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015118 obsolete rare pulmonary disease skos:exactMatch Orphanet:101944 Rare pulmonary disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015119 obsolete bronchopulmonary tumor skos:exactMatch Orphanet:101945 Rare bronchopulmonary tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015121 obsolete rare eye tumor skos:exactMatch Orphanet:101950 Rare eye tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015122 obsolete rare diabetes mellitus skos:exactMatch Orphanet:101952 Rare diabetes mellitus semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015123 obsolete rare inherited dyslipidemia skos:exactMatch Orphanet:101953 Rare dyslipidemia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015124 obsolete rare adrenal disease skos:exactMatch Orphanet:101954 Rare adrenal disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015125 obsolete rare thyroid disease skos:exactMatch Orphanet:101955 Rare thyroid disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015130 obsolete acquired chronic primary adrenal insufficiency skos:exactMatch Orphanet:101963 Acquired chronic primary adrenal insufficiency semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015132 obsolete immunodeficiency predominantly affecting antibody production skos:exactMatch Orphanet:101977 Immunodeficiency predominantly affecting antibody production semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015133 obsolete quantitative and/or qualitative congenital phagocyte defect skos:exactMatch Orphanet:101985 Quantitative and/or qualitative congenital phagocyte defect semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015135 obsolete primary immunodeficiency due to a genetic defect in innate immunity skos:exactMatch Orphanet:101988 Primary immunodeficiency due to a defect in innate immunity semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015139 obsolete rare epilepsy skos:exactMatch Orphanet:101998 Rare epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015141 obsolete disorder of medulla oblongata skos:exactMatch Orphanet:102000 Medullar disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015143 obsolete rare movement disorder skos:exactMatch Orphanet:102003 Rare movement disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015144 obsolete brain inflammatory disease skos:exactMatch Orphanet:102005 Brain inflammatory disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015145 obsolete neurovascular malformation skos:exactMatch Orphanet:102006 Neurovascular malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015162 obsolete rare syndromic intellectual disability skos:exactMatch Orphanet:102369 Rare syndromic intellectual disability semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015180 obsolete intestinal disease due to fat malabsorption skos:exactMatch Orphanet:104005 Intestinal disease due to fat malabsorption semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015188 obsolete metabolic disorder with intestinal involvement skos:exactMatch Orphanet:104013 Metabolic disease with intestinal involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015207 obsolete non-syndromic esophageal malformation skos:exactMatch Orphanet:108959 Non-syndromic esophageal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015208 obsolete syndromic esophageal malformation skos:exactMatch Orphanet:108961 Syndromic esophageal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015209 obsolete non-syndromic gastroduodenal malformation skos:exactMatch Orphanet:108963 Non-syndromic gastroduodenal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015210 obsolete syndromic gastroduodenal malformation skos:exactMatch Orphanet:108965 Syndromic gastroduodenal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015214 obsolete syndromic visceral malformation skos:exactMatch Orphanet:108973 Syndromic visceral malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015215 obsolete non-syndromic diaphragmatic or abdominal wall malformation skos:exactMatch Orphanet:108977 Non-syndromic diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015216 obsolete syndromic diaphragmatic or abdominal wall malformation skos:exactMatch Orphanet:108979 Syndromic diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015219 obsolete non-syndromic central nervous system malformation skos:exactMatch Orphanet:108989 Non-syndromic central nervous system malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015220 obsolete syndrome with a central nervous system malformation as major feature skos:exactMatch Orphanet:108991 Syndrome with a central nervous system malformation as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015221 obsolete non-syndromic respiratory or mediastinal malformation skos:exactMatch Orphanet:108993 Non-syndromic respiratory or mediastinal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015222 obsolete syndromic respiratory or mediastinal malformation skos:exactMatch Orphanet:108995 Syndromic respiratory or mediastinal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015223 obsolete rare anemia skos:exactMatch Orphanet:108997 Rare anemia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015224 obsolete rare intoxication skos:exactMatch Orphanet:108999 Rare disorder due to toxic effects semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015227 obsolete non-syndromic limb malformation skos:exactMatch Orphanet:109011 Non-syndromic limb malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015245 obsolete rare intestinal disease skos:exactMatch Orphanet:117569 Rare intestinal disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015305 obsolete rare endometriosis skos:exactMatch Orphanet:137820 Extrapelvic endometriosis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015310 obsolete syndromic optic nerve hypoplasia skos:exactMatch Orphanet:137905 Syndromic optic nerve hypoplasia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015319 obsolete rare disease with Pierre Robin syndrome skos:exactMatch Orphanet:138044 Rare disease with Pierre Robin syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015323 obsolete teratogenic Pierre Robin syndrome skos:exactMatch Orphanet:138059 Teratogenic Pierre Robin syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015328 obsolete rare bone development disorder skos:exactMatch Orphanet:139012 Rare bone development disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015329 obsolete malformation syndrome with short stature skos:exactMatch Orphanet:139021 Malformation syndrome with short stature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015330 obsolete overgrowth/obesity syndrome skos:exactMatch Orphanet:139024 Overgrowth/obesity syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015331 obsolete malformation syndrome with skin/mucosae involvement skos:exactMatch Orphanet:139027 Rare developmental defect with skin/mucosae involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015332 obsolete rare developmental defect with connective tissue involvement skos:exactMatch Orphanet:139030 Rare developmental defect with connective tissue involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015334 obsolete branchial arch or oral-acral syndrome skos:exactMatch Orphanet:139036 Branchial arch or oral-acral syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015335 obsolete Mendelian syndromes with cleft lip/palate skos:exactMatch Orphanet:139039 Orofacial clefting syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015336 obsolete malformation syndrome with odontal and/or periodontal component skos:exactMatch Orphanet:139042 Malformation syndrome with odontal and/or periodontal component semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015359 obsolete autosomal dominant hereditary demyelinating motor and sensory neuropathy skos:exactMatch Orphanet:140453 Autosomal dominant hereditary demyelinating motor and sensory neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015360 obsolete autosomal dominant hereditary axonal motor and sensory neuropathy skos:exactMatch Orphanet:140456 Autosomal dominant hereditary axonal motor and sensory neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015361 obsolete autosomal recessive hereditary demyelinating motor and sensory neuropathy skos:exactMatch Orphanet:140459 Autosomal recessive hereditary demyelinating motor and sensory neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015365 obsolete autosomal dominant hereditary sensory and autonomic neuropathy skos:exactMatch Orphanet:140474 Autosomal dominant hereditary sensory and autonomic neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015366 obsolete autosomal recessive hereditary sensory and autonomic neuropathy skos:exactMatch Orphanet:140477 Autosomal recessive hereditary sensory and autonomic neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015368 obsolete neuro-ophthalmological disease skos:exactMatch Orphanet:140653 Neuro-ophthalmological disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015475 obsolete rare head and neck malformation skos:exactMatch Orphanet:155832 Rare head and neck malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015485 obsolete primary hereditary glaucoma skos:exactMatch Orphanet:156005 Primary early-onset glaucoma semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015488 obsolete predominantly large-vessel vasculitis skos:exactMatch Orphanet:156140 Predominantly large-vessel vasculitis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015489 obsolete predominantly medium-vessel vasculitis skos:exactMatch Orphanet:156143 Predominantly medium-vessel vasculitis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015490 obsolete predominantly small-vessel vasculitis skos:exactMatch Orphanet:156146 Predominantly small-vessel vasculitis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015495 obsolete otomandibular dysplasia associated with monogenic syndromes skos:exactMatch Orphanet:156202 Otomandibular dysplasia associated with monogenic syndromes semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015499 obsolete paralytic facial malformation skos:exactMatch Orphanet:156224 Paralytic facial malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015501 obsolete syndrome or malformation associated with head and neck malformations skos:exactMatch Orphanet:156237 Syndrome or malformation associated with head and neck malformations semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015502 obsolete pinnae and external auditory canal anomaly skos:exactMatch Orphanet:156243 Pinnae and external auditory canal anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015504 obsolete larynx anomaly skos:exactMatch Orphanet:156249 Larynx anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015506 obsolete rare syndrome with cardiac malformations skos:exactMatch Orphanet:156532 Rare syndrome with cardiac malformations semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015507 obsolete rare genetic hepatic disease skos:exactMatch Orphanet:156601 Rare genetic hepatic disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015508 obsolete hereditary parenchymatous liver disease skos:exactMatch Orphanet:156604 Genetic parenchymatous liver disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015509 obsolete hereditary biliary tract disease skos:exactMatch Orphanet:156607 Genetic biliary tract disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015510 obsolete rare genetic respiratory disease skos:exactMatch Orphanet:156610 Rare genetic respiratory disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015511 obsolete rare genetic urogenital disease skos:exactMatch Orphanet:156619 Rare genetic urogenital disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015512 obsolete genetic hypertension skos:exactMatch Orphanet:156629 Rare genetic cause of hypertension semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015513 obsolete rare genetic endocrine disease skos:exactMatch Orphanet:156638 Rare genetic endocrine disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015549 obsolete rare genetic hematologic disease skos:exactMatch Orphanet:158300 Rare genetic hematologic disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015572 obsolete cerebral malformation due to abnormal neuronal migration skos:exactMatch Orphanet:163209 Non-syndromic cerebral malformation due to abnormal neuronal migration semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015575 obsolete rare bacterial infectious disease skos:exactMatch Orphanet:163582 Rare bacterial infectious disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015576 obsolete rare viral disease skos:exactMatch Orphanet:163585 Rare viral disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015577 obsolete rare parasitic disease skos:exactMatch Orphanet:163588 Rare parasitic disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015578 obsolete rare mycosis skos:exactMatch Orphanet:163591 Rare mycosis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015582 obsolete rare disorder related with pregnancy, childbirth and puerperium skos:exactMatch Orphanet:163637 Rare disorder related with pregnancy, childbirth and puerperium semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015603 obsolete rare odontal or periodontal disorder skos:exactMatch Orphanet:164001 Rare odontal or periodontal disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015615 obsolete rare genetic gastroenterological disease skos:exactMatch Orphanet:165652 Rare genetic gastroenterological disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015616 obsolete rare genetic intestinal disease skos:exactMatch Orphanet:165655 Genetic intestinal disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015617 obsolete hereditary gastro-esophageal disease skos:exactMatch Orphanet:165658 Genetic gastro-esophageal disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015618 obsolete genetic pancreatic disease skos:exactMatch Orphanet:165661 Genetic pancreatic disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015620 obsolete syndromic urogenital tract malformation skos:exactMatch Orphanet:165707 Syndromic urogenital tract malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015621 obsolete rare abdominal surgical disease skos:exactMatch Orphanet:165711 Rare abdominal surgical disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015651 obsolete neurocutaneous syndrome with epilepsy skos:exactMatch Orphanet:166466 Neurocutaneous syndrome with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015652 obsolete chromosomal anomaly with epilepsy as a major feature skos:exactMatch Orphanet:166469 Chromosomal anomaly with epilepsy as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015654 obsolete idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes skos:exactMatch Orphanet:166475 Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015655 obsolete cerebral malformation with epilepsy skos:exactMatch Orphanet:166478 Cerebral malformation with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015656 obsolete metabolic disease with epilepsy skos:exactMatch Orphanet:166481 Metabolic diseases with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015657 obsolete inflammatory and autoimmune disease with epilepsy skos:exactMatch Orphanet:166484 Inflammatory and autoimmune disease with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015658 obsolete cerebral diseases of vascular origin with epilepsy skos:exactMatch Orphanet:166487 Cerebral diseases of vascular origin with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015659 obsolete infectious disease with epilepsy skos:exactMatch Orphanet:166490 Infectious disease with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015662 obsolete hemorrhagic disorder due to an acquired coagulation factor defect skos:exactMatch Orphanet:166775 Rare hemorrhagic disorder due to an acquired coagulation factor defect semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015668 obsolete hereditary dentin defect skos:exactMatch Orphanet:167759 Hereditary dentin defect semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015669 obsolete rare disease with dentinogenesis imperfecta skos:exactMatch Orphanet:167762 Rare disease with dentinogenesis imperfecta semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015673 obsolete rare cardiac tumor skos:exactMatch Orphanet:168194 Rare cardiac tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015682 obsolete primary peritoneal tumor skos:exactMatch Orphanet:168803 Primary peritoneal tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015710 obsolete immune dysregulation disease with immunodeficiency skos:exactMatch Orphanet:169361 Immune dysregulation disease with immunodeficiency semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015765 obsolete congenital myopathy with cores skos:exactMatch Orphanet:172976 Congenital myopathy with cores semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015777 obsolete adult hypothyroidism skos:exactMatch Orphanet:177101 Rare adult hypothyroidism semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015778 obsolete syndromic hypothyroidism skos:exactMatch Orphanet:177107 Syndromic hypothyroidism semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015789 obsolete non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations skos:exactMatch Orphanet:178025 Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015823 obsolete primary immunodeficiency due to a defect in adaptive immunity skos:exactMatch Orphanet:179006 Primary immunodeficiency due to a defect in adaptive immunity semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015846 obsolete syndromic uterovaginal malformation skos:exactMatch Orphanet:180148 Syndromic uterovaginal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015851 obsolete rare breast malformation skos:exactMatch Orphanet:180163 Rare breast malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015852 obsolete excess breast volume or number skos:exactMatch Orphanet:180170 Excess breast volume or number semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015853 obsolete deficient breast volume or number skos:exactMatch Orphanet:180173 Deficient breast volume or number semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015857 obsolete rare non-malformative gynecologic or obstetric disease skos:exactMatch Orphanet:180199 Rare non-malformative gynecologic or obstetric disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015858 obsolete rare non-malformative breast disease skos:exactMatch Orphanet:180202 Rare non-malformative breast disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015859 obsolete rare non-malformative uterovaginal or vulvovaginal disease skos:exactMatch Orphanet:180205 Rare non-malformative uterovaginal or vulvovaginal disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015860 obsolete anomaly of puberty or/and menstrual cycle skos:exactMatch Orphanet:180208 Anomaly of puberty or/and menstrual cycle semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015861 obsolete rare uterine adnexal tumor skos:exactMatch Orphanet:180220 Rare uterine adnexal tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015868 obsolete rare breast tumor skos:exactMatch Orphanet:180250 Rare breast tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015870 obsolete rare malignant breast tumor skos:exactMatch Orphanet:180257 Rare malignant breast tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015875 obsolete rare non-malformative uterine adnexal disease skos:exactMatch Orphanet:180303 Rare non-malformative uterine adnexal disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015876 obsolete rare vulvovaginal tumor skos:exactMatch Orphanet:180312 Rare vulvovaginal tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015877 obsolete malformative syndrome with dentinogenesis imperfecta skos:exactMatch Orphanet:180766 Malformative syndrome with dentinogenesis imperfecta semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015879 obsolete non-syndromic diaphragmatic or thoracic malformation skos:exactMatch Orphanet:180776 Non-syndromic diaphragmatic or thoracic malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015880 obsolete syndromic diaphragmatic or thoracic malformation skos:exactMatch Orphanet:180779 Syndromic diaphragmatic or thoracic malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015881 obsolete gastroesophageal tumor skos:exactMatch Orphanet:180821 Rare gastroesophageal tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015886 obsolete rare diabetes mellitus type 1 skos:exactMatch Orphanet:181371 Rare diabetes mellitus type 1 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015887 obsolete rare diabetes mellitus type 2 skos:exactMatch Orphanet:181376 Rare diabetes mellitus type 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015888 obsolete other rare diabetes mellitus skos:exactMatch Orphanet:181381 Other rare diabetes mellitus semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015889 obsolete rare hypothalamic or pituitary disease skos:exactMatch Orphanet:181384 Rare hypothalamic or pituitary disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015890 obsolete rare disorder with congenital hypogonadotropic hypogonadism skos:exactMatch Orphanet:181387 Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015891 obsolete hypogonadotropic hypogonadism associated with other endocrinopathies skos:exactMatch Orphanet:181390 Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015893 obsolete rare hypothyroidism skos:exactMatch Orphanet:181396 Rare hypothyroidism semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015894 obsolete rare hyperthyroidism skos:exactMatch Orphanet:181399 Rare hyperthyroidism semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015896 obsolete rare hypoparathyroidism skos:exactMatch Orphanet:181405 Rare hypoparathyroidism semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015897 obsolete rare hyperparathyroidism skos:exactMatch Orphanet:181408 Rare hyperparathyroidism semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015899 obsolete rare primary hyperaldosteronism skos:exactMatch Orphanet:181415 Rare primary hyperaldosteronism semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015901 obsolete rare inherited hyperlipidemia skos:exactMatch Orphanet:181422 Rare hyperlipidemia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015906 obsolete rare disorder with hypergonadotropic hypogonadism skos:exactMatch Orphanet:181441 Rare disorder with hypergonadotropic hypogonadism semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015910 obsolete rare constitutional hemolytic anemia skos:exactMatch Orphanet:182043 Rare constitutional hemolytic anemia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015911 obsolete rare acquired hemolytic anemia skos:exactMatch Orphanet:182047 Rare acquired hemolytic anemia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015913 obsolete rare thrombotic disease of hematologic origin skos:exactMatch Orphanet:182054 Rare thrombotic disease of hematologic origin semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015915 obsolete cerebellar malformation skos:exactMatch Orphanet:182061 Cerebellar malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015916 obsolete rare neuroinflammatory or neuroimmunological disease skos:exactMatch Orphanet:182064 Rare neuroinflammatory or neuroimmunological disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015918 obsolete rare neurodegenerative disease skos:exactMatch Orphanet:182070 Rare neurodegenerative disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015921 obsolete ARX-related epileptic encephalopathy skos:exactMatch Orphanet:182079 ARX-related epileptic encephalopathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015922 obsolete channelopathy with epilepsy skos:exactMatch Orphanet:182083 Channelopathy with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015930 obsolete respiratory malformation skos:exactMatch Orphanet:182111 Respiratory malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015931 obsolete rare urogenital tumor skos:exactMatch Orphanet:182114 Rare urogenital tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015940 obsolete rare rheumatologic disease skos:exactMatch Orphanet:182231 Rare rheumatologic disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015945 obsolete polymalformative genetic syndrome with increased risk of developing cancer skos:exactMatch Orphanet:183422 Polymalformative genetic syndrome with increased risk of developing cancer semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015946 obsolete rare genetic epidermal disorder skos:exactMatch Orphanet:183426 Genetic epidermal disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015948 obsolete rare genetic skin vascular disorder skos:exactMatch Orphanet:183478 Genetic skin vascular disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015949 obsolete rare genetic subcutaneous tissue disorder skos:exactMatch Orphanet:183484 Genetic subcutaneous tissue disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015950 obsolete inherited skin tumor skos:exactMatch Orphanet:183487 Genetic skin tumor or hamartoma semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015953 obsolete genetic central nervous system and retinal vascular disease skos:exactMatch Orphanet:183503 Genetic central nervous system and retinal vascular disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015954 obsolete rare genetic headache disorder skos:exactMatch Orphanet:183509 Rare genetic headache semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015955 obsolete rare genetic epilepsy skos:exactMatch Orphanet:183512 Rare genetic epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015957 obsolete rare genetic movement disorder skos:exactMatch Orphanet:183521 Rare genetic movement disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015958 obsolete rare genetic bone disease skos:exactMatch Orphanet:183524 Rare genetic bone disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015959 obsolete inherited syndrome with bone tumors as a major feature skos:exactMatch Orphanet:183527 Genetic bone tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015960 obsolete rare genetic developmental defect during embryogenesis skos:exactMatch Orphanet:183530 Rare genetic developmental defect during embryogenesis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015961 obsolete hereditary head and neck malformation skos:exactMatch Orphanet:183583 Genetic head and neck malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015963 obsolete inherited renal tumor skos:exactMatch Orphanet:183595 Genetic renal tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015966 obsolete hereditary eye tumor skos:exactMatch Orphanet:183619 Genetic eye tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015968 obsolete rare genetic hypothalamic or pituitary disease skos:exactMatch Orphanet:183628 Rare genetic hypothalamic or pituitary disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015969 obsolete rare genetic thyroid disease skos:exactMatch Orphanet:183631 Rare genetic thyroid disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015970 obsolete rare genetic parathyroid disease and phosphocalcic metabolism disorder skos:exactMatch Orphanet:183634 Rare genetic parathyroid disease and phosphocalcic metabolism disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015971 obsolete rare genetic adrenal disease skos:exactMatch Orphanet:183637 Rare genetic adrenal disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015972 obsolete rare constitutional anemia skos:exactMatch Orphanet:183651 Rare constitutional anemia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015980 obsolete rare genetic gynecological and obstetrical diseases skos:exactMatch Orphanet:183731 Rare genetic gynecological and obstetrical diseases semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015981 obsolete inherited gynecological tumor skos:exactMatch Orphanet:183734 Genetic gynecological tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015982 obsolete rare genetic intellectual disability skos:exactMatch Orphanet:183757 Rare genetic intellectual disability semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015983 obsolete rare genetic syndromic intellectual disability skos:exactMatch Orphanet:183763 Rare genetic syndromic intellectual disability semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0015984 obsolete rare genetic immune disease skos:exactMatch Orphanet:183770 Rare genetic immune disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016034 obsolete cleft lip with or without cleft palate skos:exactMatch Orphanet:1991 Cleft lip with or without cleft palate semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016054 obsolete cerebral malformation skos:exactMatch Orphanet:199633 Non-syndromic cerebral malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016055 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature skos:exactMatch Orphanet:199639 Syndrome with corpus callosum agenesis/dysgenesis as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016072 obsolete anomaly of puberty or/and menstrual cycle of genetic origin skos:exactMatch Orphanet:202940 Anomaly of puberty or/and menstrual cycle of genetic origin semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016104 obsolete infectious disease with peripheral neuropathy skos:exactMatch Orphanet:206613 Infectious disease with peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016109 obsolete autosomal recessive distal myopathy skos:exactMatch Orphanet:206653 Autosomal recessive distal myopathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016110 obsolete non-dystrophic myopathy skos:exactMatch Orphanet:206656 Non-dystrophic myopathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016114 obsolete bulbospinal muscular atrophy of childhood skos:exactMatch Orphanet:206704 Bulbospinal muscular atrophy of childhood semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016115 obsolete bulbospinal muscular atrophy of adulthood skos:exactMatch Orphanet:206707 Bulbospinal muscular atrophy of adult semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016116 obsolete generalized bulbospinal muscular atrophy skos:exactMatch Orphanet:206710 Generalized bulbospinal muscular atrophy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016118 obsolete muscular glycogenosis skos:exactMatch Orphanet:206959 Muscular glycogenosis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016131 obsolete spinal muscular atrophy associated with central nervous system anomaly skos:exactMatch Orphanet:207012 Spinal muscular atrophy associated with central nervous system anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016132 obsolete rare hereditary disease with peripheral neuropathy skos:exactMatch Orphanet:207015 Rare hereditary disease with peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016133 obsolete rare hereditary metabolic disease with peripheral neuropathy skos:exactMatch Orphanet:207018 Rare hereditary metabolic disease with peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016134 obsolete rare hereditary systemic disease with peripheral neuropathy skos:exactMatch Orphanet:207021 Rare hereditary systemic disease with peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016135 obsolete rare hereditary neurologic disease with peripheral neuropathy skos:exactMatch Orphanet:207025 Rare hereditary neurologic disease with peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016137 obsolete acute and subacute inflammatory demyelinating polyneuropathy skos:exactMatch Orphanet:207038 Acute and subacute inflammatory demyelinating polyneuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016138 obsolete malignant lymphoma with peripheral neuropathy skos:exactMatch Orphanet:207046 Malignant lymphoma with peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016150 obsolete qualitative or quantitative defects of integrin alpha-7 skos:exactMatch Orphanet:207098 Qualitative or quantitative defects of integrin alpha-7 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016152 obsolete qualitative or quantitative defects of calpain skos:exactMatch Orphanet:207104 Qualitative or quantitative defects of calpain semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016154 obsolete qualitative or quantitative defects of myotubularin skos:exactMatch Orphanet:207110 Qualitative or quantitative defects of myotubularin semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016157 obsolete qualitative or quantitative defects of fukutin skos:exactMatch Orphanet:207122 Qualitative or quantitative defects of fukutin semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016169 obsolete chronic acquired demyelinating polyneuropathy skos:exactMatch Orphanet:208974 Chronic acquired demyelinating polyneuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016170 obsolete chronic polyradiculoneuropathy skos:exactMatch Orphanet:208978 Chronic polyradiculoneuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016172 obsolete acquired sensory ganglionopathy skos:exactMatch Orphanet:208984 Acquired sensory ganglionopathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016177 obsolete systemic inflammatory disease associated with an acquired peripheral neuropathy skos:exactMatch Orphanet:209007 Systemic inflammatory disease associated with an acquired peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016178 obsolete peripheral neuropathy associated with monoclonal gammopathy skos:exactMatch Orphanet:209010 Peripheral neuropathy associated with monoclonal gammopathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016179 obsolete acquired amyloid peripheral neuropathy skos:exactMatch Orphanet:209013 Acquired amyloid peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016180 obsolete hematological disease associated with an acquired peripheral neuropathy skos:exactMatch Orphanet:209016 Hematological disease associated with an acquired peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016181 obsolete solid tumor associated with an acquired peripheral neuropathy skos:exactMatch Orphanet:209019 Solid tumor associated with an acquired peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016182 obsolete qualitative or quantitative defects of protein O-mannose beta1, 2N-acetylglucosaminyltransferase skos:exactMatch Orphanet:209024 Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016183 obsolete qualitative or quantitative defects of protein glycosyltransferase-like skos:exactMatch Orphanet:209027 Qualitative or quantitative defects of protein glycosyltransferase-like semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016196 obsolete qualitative or quantitative defects of emerin skos:exactMatch Orphanet:209188 Qualitative or quantitative defects of emerin semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016200 obsolete qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase skos:exactMatch Orphanet:209203 Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016221 obsolete temporomandibular joint anomaly skos:exactMatch Orphanet:210581 Temporomandibular joint anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016228 obsolete rare vascular tumor skos:exactMatch Orphanet:211237 Rare vascular tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016229 obsolete hereditary vascular anomaly skos:exactMatch Orphanet:211240 Genetic vascular anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016230 obsolete simple vascular malformation skos:exactMatch Orphanet:211243 Simple vascular malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016232 obsolete rare venous malformation skos:exactMatch Orphanet:211252 Rare venous malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016233 obsolete rare lymphatic system malformation skos:exactMatch Orphanet:211255 Rare lymphatic system anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016235 obsolete complex vascular malformation with associated anomalies skos:exactMatch Orphanet:211277 Complex vascular malformation with associated anomalies semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016252 obsolete rare uterine cancer skos:exactMatch Orphanet:213564 Rare uterine cancer semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016253 obsolete rare cancer of corpus uteri skos:exactMatch Orphanet:213569 Rare cancer of corpus uteri semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016274 obsolete rare cancer of cervix uteri skos:exactMatch Orphanet:213761 Rare cancer of cervix uteri semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016320 obsolete rare hereditary thrombophilia skos:exactMatch Orphanet:217454 Rare hereditary thrombophilia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016343 obsolete unclassified cardiomyopathy skos:exactMatch Orphanet:217678 Unclassified cardiomyopathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016347 obsolete rare cardiac rhythm disease skos:exactMatch Orphanet:218436 Rare cardiac rhythm disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016348 obsolete non-genetic cardiac rhythm disease skos:exactMatch Orphanet:218439 Non-genetic cardiac rhythm disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016375 obsolete acquired peripheral movement disorder skos:exactMatch Orphanet:221114 Acquired peripheral movement disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016397 obsolete lysosomal disease with epilepsy skos:exactMatch Orphanet:225681 Lysosomal disease with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016398 obsolete peroxisomal disease with epilepsy skos:exactMatch Orphanet:225686 Peroxisomal disease with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016399 obsolete amino acid or protein metabolism disease with epilepsy skos:exactMatch Orphanet:225689 Amino acid or protein metabolism disease with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016400 obsolete metal transport or utilization disorder with epilepsy skos:exactMatch Orphanet:225692 Metal transport or utilization disorder with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016401 obsolete energy metabolism disorder with epilepsy skos:exactMatch Orphanet:225696 Energy metabolism disorder with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016402 obsolete mitochondrial disease with epilepsy skos:exactMatch Orphanet:225700 Mitochondrial disease with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016403 obsolete mitochondrial disease with peripheral neuropathy skos:exactMatch Orphanet:225703 Mitochondrial disease with peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016404 obsolete metabolic neurotransmission anomaly with epilepsy skos:exactMatch Orphanet:225707 Metabolic neurotransmission anomaly with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016405 obsolete sterol metabolism disorder with epilepsy skos:exactMatch Orphanet:225710 Sterol metabolism disorder with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016406 obsolete other metabolic disease with epilepsy skos:exactMatch Orphanet:225713 Other metabolic disease with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016409 obsolete primary congenital hypothyroidism skos:exactMatch Orphanet:226295 Primary congenital hypothyroidism semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016428 obsolete multiple sclerosis variant skos:exactMatch Orphanet:228145 Multiple sclerosis variant semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016434 obsolete acquired dermis elastic tissue disorder skos:exactMatch Orphanet:228218 Acquired dermis elastic tissue disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016435 obsolete acquired dermis elastic tissue disorder with decreased elastic tissue skos:exactMatch Orphanet:228221 Acquired dermis elastic tissue disorder with decreased elastic tissue semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016436 obsolete acquired dermis elastic tissue disorder with increased elastic tissue skos:exactMatch Orphanet:228224 Acquired dermis elastic tissue disorder with increased elastic tissue semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016493 obsolete variant of Guillain-Barre syndrome skos:exactMatch Orphanet:231413 Variant of Guillain-Barré syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016494 obsolete regional variant of Guillain-Barre syndrome skos:exactMatch Orphanet:231416 Regional variant of Guillain-Barré syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016495 obsolete functional variant of Guillain-Barre syndrome skos:exactMatch Orphanet:231419 Functional variant of Guillain-Barré syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016507 obsolete rare surgically correctable form of primary aldosteronism skos:exactMatch Orphanet:231637 Rare surgically correctable form of primary aldosteronism semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016508 obsolete rare non surgically correctable form of primary aldosteronism skos:exactMatch Orphanet:231641 Rare non surgically correctable form of primary aldosteronism semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016517 obsolete rare genetic vascular disease skos:exactMatch Orphanet:233655 Rare genetic vascular disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016518 obsolete isolated punctate palmoplantar keratoderma skos:exactMatch Orphanet:2338 Isolated punctate palmoplantar keratoderma semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016524 obsolete congenital vascular bone syndrome skos:exactMatch Orphanet:235832 Congenital vascular bone syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016565 obsolete syndromic genetic obesity skos:exactMatch Orphanet:240371 Syndromic obesity semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016578 obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies skos:exactMatch Orphanet:2443 Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016579 obsolete dominant hypophosphatemia with nephrolithiasis or osteoporosis skos:exactMatch Orphanet:244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016623 obsolete rare deficiency anemia skos:exactMatch Orphanet:248293 Rare deficiency anemia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016627 obsolete rare hemorrhagic disorder skos:exactMatch Orphanet:248308 Rare hemorrhagic disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016628 obsolete hemorrhagic disorder due to a coagulation factors defect skos:exactMatch Orphanet:248315 Rare hemorrhagic disorder due to a coagulation factors defect semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016629 obsolete hemorrhagic disorder due to a platelet anomaly skos:exactMatch Orphanet:248326 Rare hemorrhagic disorder due to a platelet anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016631 obsolete hemorrhagic disorder due to an acquired platelet anomaly skos:exactMatch Orphanet:248347 Rare hemorrhagic disorder due to an acquired platelet anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016632 obsolete thrombotic disorder due to a coagulation factors defect skos:exactMatch Orphanet:248358 Rare thrombotic disorder due to a coagulation factors defect semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016633 obsolete thrombotic disorder due to a constitutional coagulation factors defect skos:exactMatch Orphanet:248361 Rare thrombotic disorder due to a constitutional coagulation factors defect semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016634 obsolete thrombotic disorder due to an acquired coagulation factors defect skos:exactMatch Orphanet:248365 Rare thrombotic disorder due to an acquired coagulation factors defect semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016635 obsolete thrombotic disorder due to a platelet anomaly skos:exactMatch Orphanet:248368 Rare thrombotic disorder due to a platelet anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016636 obsolete thrombotic disorder due to a constitutional platelet anomaly skos:exactMatch Orphanet:248401 Rare thrombotic disorder due to a constitutional platelet anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016637 obsolete thrombotic disorder due to an acquired platelet anomaly skos:exactMatch Orphanet:248404 Rare thrombotic disorder due to an acquired platelet anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016645 obsolete rare neoplastic disease skos:exactMatch Orphanet:250908 Rare neoplastic disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016678 obsolete maternal disease-related embryofetopathy skos:exactMatch Orphanet:251535 Maternal disease-related embryofetopathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016679 obsolete rare tumor of neuroepithelial tissue skos:exactMatch Orphanet:251558 Rare tumor of neuroepithelial tissue semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016704 obsolete glial tumor of neuroepithelial tissue with unknown origin skos:exactMatch Orphanet:251668 Glial tumor of neuroepithelial tissue with unknown origin semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016708 obsolete embryonal tumor of neuroepithelial tissue skos:exactMatch Orphanet:251852 Embryonal tumor of neuroepithelial tissue semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016721 obsolete pineal tumor of neuroepithelial tissue skos:exactMatch Orphanet:251905 Pineal tumor of neuroepithelial tissue semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016726 obsolete neuronal tumor skos:exactMatch Orphanet:251924 Neuronal tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016744 obsolete primary melanocytic tumor of central nervous system skos:exactMatch Orphanet:252028 Primary melanocytic tumor of central nervous system semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016756 obsolete inherited nervous system cancer-predisposing syndrome skos:exactMatch Orphanet:252190 Inherited nervous system cancer-predisposing syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016767 obsolete cutaneous lichen planus skos:exactMatch Orphanet:254370 Rare cutaneous lichen planus semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016768 obsolete rare mucosal lichen planus skos:exactMatch Orphanet:254373 Rare mucosal lichen planus semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016788 obsolete genetic hyperferritinemia without iron overload skos:exactMatch Orphanet:254704 Genetic hyperferritinemia without iron overload semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016791 obsolete mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies skos:exactMatch Orphanet:254758 Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016792 obsolete mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA skos:exactMatch Orphanet:254767 Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016793 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA skos:exactMatch Orphanet:254776 Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016794 obsolete maternally-inherited mitochondrial myopathy skos:exactMatch Orphanet:254788 Mitochondrial DNA-related mitochondrial myopathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016799 obsolete mitochondrial oxidative phosphorylation disorder with no known mechanism skos:exactMatch Orphanet:254822 Mitochondrial oxidative phosphorylation disorder with no known mechanism semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016803 obsolete unspecified inborn mitochondrial disorder skos:exactMatch Orphanet:254837 Unspecified mitochondrial disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016805 obsolete isolated oxidative phosphorylation complex disorder skos:exactMatch Orphanet:254846 Isolated oxidative phosphorylation complex disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016998 obsolete complex chromosomal rearrangement skos:exactMatch Orphanet:263708 Complex chromosomal rearrangement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016999 obsolete X chromosome number anomaly skos:exactMatch Orphanet:263714 X chromosome number anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017000 obsolete X chromosome number anomaly with female phenotype skos:exactMatch Orphanet:263717 X chromosome number anomaly with female phenotype semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017001 obsolete X chromosome number anomaly with male phenotype skos:exactMatch Orphanet:263720 X chromosome number anomaly with male phenotype semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017002 obsolete polysomy of X chromosome skos:exactMatch Orphanet:263723 Polysomy of X chromosome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017005 obsolete Y chromosome number anomaly skos:exactMatch Orphanet:263746 Y chromosome number anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017006 obsolete X and Y chromosomal anomaly skos:exactMatch Orphanet:263749 X and Y chromosomal anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017011 obsolete uniparental disomy of chromosome X skos:exactMatch Orphanet:263793 Uniparental disomy of chromosome X semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017085 obsolete malformation of the neurenteric canal, spinal cord and column skos:exactMatch Orphanet:268843 Malformation of the neurenteric canal, spinal cord and column semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017090 obsolete midline cerebral malformation skos:exactMatch Orphanet:268926 Midline cerebral malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017104 obsolete central nervous system cystic malformation skos:exactMatch Orphanet:269194 Central nervous system cystic malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017114 obsolete global cerebellar malformation skos:exactMatch Orphanet:269224 Global cerebellar malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017118 obsolete syndrome with a cerebellar malformation as major feature skos:exactMatch Orphanet:269523 Syndrome with a cerebellar malformation as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017120 obsolete other syndrome with a central nervous system malformation as major feature skos:exactMatch Orphanet:269531 Other syndrome with a central nervous system malformation as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017121 obsolete syndrome with a Dandy-Walker malformation as major feature skos:exactMatch Orphanet:269546 Syndrome with a Dandy-Walker malformation as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017122 obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature skos:exactMatch Orphanet:269573 Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017127 obsolete inherited soft tissue tumor skos:exactMatch Orphanet:271832 Genetic soft tissue tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017128 obsolete inherited digestive tract tumor skos:exactMatch Orphanet:271835 Genetic digestive tract tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017129 obsolete inherited cardiac tumor skos:exactMatch Orphanet:271841 Genetic cardiac tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017130 obsolete genetic urogenital tumor skos:exactMatch Orphanet:271844 Genetic urogenital tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017131 obsolete hereditary cardiac anomaly skos:exactMatch Orphanet:271853 Genetic cardiac anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017141 obsolete hemorrhagic disorder due to a constitutional thrombocytopenia skos:exactMatch Orphanet:275729 Rare hemorrhagic disorder due to a constitutional thrombocytopenia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017142 obsolete hemorrhagic disorder due to a qualitative platelet defect skos:exactMatch Orphanet:275736 Rare hemorrhagic disorder due to a qualitative platelet defect semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017143 obsolete genetic infertility skos:exactMatch Orphanet:275742 Genetic infertility semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017158 obsolete pulmonary hypertension with unclear multifactorial mechanism skos:exactMatch Orphanet:275844 Pulmonary hypertension with unclear multifactorial mechanism semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017159 obsolete syndrome with pulmonary hypertension as a major feature skos:exactMatch Orphanet:275853 Syndrome with pulmonary hypertension as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017166 obsolete rare tumor of salivary glands skos:exactMatch Orphanet:276142 Rare tumor of salivary glands semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017234 obsolete inherited prion disease skos:exactMatch Orphanet:280400 Inherited human prion disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017259 obsolete systemic diseases with anterior uveitis skos:exactMatch Orphanet:280926 Systemic diseases with anterior uveitis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017260 obsolete systemic diseases with posterior uveitis skos:exactMatch Orphanet:280930 Systemic diseases with posterior uveitis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017261 obsolete systemic diseases with panuveitis skos:exactMatch Orphanet:280933 Systemic diseases with panuveitis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017262 obsolete inherited non-syndromic ichthyosis skos:exactMatch Orphanet:281082 Inherited non-syndromic ichthyosis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017270 obsolete autosomal ichthyosis syndrome skos:exactMatch Orphanet:281217 Autosomal ichthyosis syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017271 obsolete autosomal ichthyosis syndrome with prominent hair abnormalities skos:exactMatch Orphanet:281222 Autosomal ichthyosis syndrome with prominent hair abnormalities semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017272 obsolete autosomal ichthyosis syndrome with prominent neurologics signs skos:exactMatch Orphanet:281238 Autosomal ichthyosis syndrome with prominent neurologic signs semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017273 obsolete autosomal ichthyosis syndrome with fatal disease course skos:exactMatch Orphanet:281241 Autosomal ichthyosis syndrome with fatal disease course semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017302 obsolete qualitative or quantitative defects of troponin skos:exactMatch Orphanet:284786 Qualitative or quantitative defects of troponin semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017311 obsolete rare disease with thoracic aortic aneurysm and aortic dissection skos:exactMatch Orphanet:285014 Rare disease with thoracic aortic aneurysm and aortic dissection semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017368 obsolete systemic disease with skin involvement skos:exactMatch Orphanet:290836 Systemic disease with skin involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017369 obsolete autoinflammatory syndrome with immune deficiency skos:exactMatch Orphanet:290839 Autoinflammatory syndrome with immune deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017370 obsolete autoinflammatory syndrome with skin involvement skos:exactMatch Orphanet:290842 Autoinflammatory syndrome with skin involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017371 obsolete rare head and neck tumor skos:exactMatch Orphanet:290849 Rare head and neck tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017390 obsolete methylmalonic acidemia without homocystinuria skos:exactMatch Orphanet:293355 Methylmalonic acidemia without homocystinuria semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017414 obsolete rare nevus skos:exactMatch Orphanet:294057 Rare nevus semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017420 obsolete intercalary limb defects skos:exactMatch Orphanet:294927 Intercalary limb defects semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017431 obsolete non-syndromic limb overgrowth skos:exactMatch Orphanet:294953 Non syndromic limb overgrowth semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017432 obsolete syndrome with limb reduction defects skos:exactMatch Orphanet:294955 Syndrome with limb reduction defects semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017633 obsolete rare intoxication due to medical products skos:exactMatch Orphanet:306640 Rare intoxication due to medical products semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017635 obsolete parkinsonian syndrome due to neurodegenerative disease skos:exactMatch Orphanet:306666 Rare parkinsonian syndrome due to neurodegenerative disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017637 obsolete rare parkinsonian syndrome due to intoxication skos:exactMatch Orphanet:306679 Rare parkinsonian syndrome due to intoxication semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017641 obsolete miscellaneous movement disorder due to neurodegenerative disease skos:exactMatch Orphanet:306695 Miscellaneous movement disorder due to neurodegenerative disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017643 obsolete frontotemporal neurodegeneration with movement disorder skos:exactMatch Orphanet:306708 Frontotemporal neurodegeneration with movement disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017644 obsolete rare tremor disorder skos:exactMatch Orphanet:306712 Rare tremor disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017645 obsolete rare choreic movement disorder skos:exactMatch Orphanet:306715 Rare choreic movement disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017646 obsolete neurodegenerative disease with chorea skos:exactMatch Orphanet:306719 Neurodegenerative disease with chorea semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017647 obsolete postinfectious autoimmune disease with chorea skos:exactMatch Orphanet:306727 Postinfectious autoimmune disease with chorea semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017650 obsolete rare myoclonus skos:exactMatch Orphanet:306747 Rare myoclonus semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017651 obsolete primary myoclonus skos:exactMatch Orphanet:306750 Primary myoclonus semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017652 obsolete rare disease with myoclonus as a major feature skos:exactMatch Orphanet:306753 Rare disease with myoclonus as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017653 obsolete epilepsy and/or ataxia with myoclonus as major feature skos:exactMatch Orphanet:306756 Epilepsy and/or ataxia with myoclonus as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017654 obsolete non progressive epilepsy and/or ataxia with myoclonus as a major feature skos:exactMatch Orphanet:306759 Non progressive epilepsy and/or ataxia with myoclonus as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017656 obsolete motor stereotypies skos:exactMatch Orphanet:306765 Motor stereotypies semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017657 obsolete rare paroxysmal movement disorder skos:exactMatch Orphanet:306768 Rare paroxysmal movement disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017660 obsolete rare genetic parkinsonian disorder skos:exactMatch Orphanet:307052 Rare genetic parkinsonian disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017661 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease skos:exactMatch Orphanet:307055 Rare parkinsonian syndrome due to genetic neurodegenerative disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017662 obsolete miscellaneous movement disorder due to genetic neurodegenerative disease skos:exactMatch Orphanet:307058 Miscellaneous movement disorder due to genetic neurodegenerative disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017663 obsolete inherited tremor disorder skos:exactMatch Orphanet:307061 Rare genetic tremor disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017663 obsolete inherited tremor disorder skos:exactMatch Orphanet:307064 Rare genetic myoclonus semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017665 obsolete rare genetic disease with myoclonus as a major feature skos:exactMatch Orphanet:307067 Rare genetic disease with myoclonus as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017667 obsolete isolated diffuse palmoplantar keratoderma skos:exactMatch Orphanet:307148 Isolated diffuse palmoplantar keratoderma semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017669 obsolete disease with diffuse palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:307711 Disease with diffuse palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017670 obsolete autosomal dominant diffuse mutilating palmoplantar keratoderma skos:exactMatch Orphanet:307773 Autosomal dominant diffuse mutilating palmoplantar keratoderma semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017671 obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:307804 Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017673 obsolete isolated focal palmoplantar keratoderma skos:exactMatch Orphanet:307846 Isolated focal palmoplantar keratoderma semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017674 obsolete disease with focal palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:307871 Disease with focal palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017678 obsolete obsolete disease with punctate palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:308023 Disease with punctate palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017679 obsolete obsolete autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:308031 Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017680 obsolete autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:308041 Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017710 obsolete congenital systemic veins anomaly skos:exactMatch Orphanet:3091 Congenital systemic veins anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017717 obsolete metabolic disease due to other fatty acid oxidation disorder skos:exactMatch Orphanet:309133 Metabolic disease due to other fatty acid oxidation disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017718 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes skos:exactMatch Orphanet:309136 Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017742 obsolete disorder of O-xylosylglycan synthesis skos:exactMatch Orphanet:309450 Disorder of O-xylosylglycan synthesis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017743 obsolete disorder of O-N-acetylgalactosaminylglycan synthesis skos:exactMatch Orphanet:309458 Disorder of O-N-acetylgalactosaminylglycan synthesis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017744 obsolete disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis skos:exactMatch Orphanet:309463 Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017745 obsolete disorder of O-mannosylglycan synthesis skos:exactMatch Orphanet:309469 Disorder of O-mannosylglycan synthesis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017760 obsolete disorder of other vitamins and cofactors metabolism and transport skos:exactMatch Orphanet:309833 Disorder of other vitamins and cofactors metabolism and transport semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017797 obsolete rare odontologic tumor skos:exactMatch Orphanet:314425 Rare odontogenic tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017820 obsolete obsolete disease with Cushing syndrome as a major feature skos:exactMatch Orphanet:314749 Rare disease with adrenal Cushing syndrome as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017841 obsolete autoimmune disease with skin involvement skos:exactMatch Orphanet:315350 Autoimmune disease with skin involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017891 obsolete inherited renal cancer-predisposing syndrome skos:exactMatch Orphanet:319328 Inherited renal cancer-predisposing syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017897 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency skos:exactMatch Orphanet:319535 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017898 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency skos:exactMatch Orphanet:319539 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017899 obsolete autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency skos:exactMatch Orphanet:319543 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017912 obsolete X-linked pure spastic paraplegia skos:exactMatch Orphanet:320332 X-linked pure spastic paraplegia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017914 obsolete pure or complex autosomal dominant spastic paraplegia skos:exactMatch Orphanet:320342 Pure or complex autosomal dominant spastic paraplegia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017915 obsolete pure or complex autosomal recessive spastic paraplegia skos:exactMatch Orphanet:320346 Pure or complex autosomal recessive spastic paraplegia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017916 obsolete pure or complex X-linked spastic paraplegia skos:exactMatch Orphanet:320350 Pure or complex X-linked spastic paraplegia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017954 obsolete pyogenic autoinflammatory syndrome skos:exactMatch Orphanet:324927 Pyogenic autoinflammatory syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017955 obsolete granulomatous autoinflammatory syndrome skos:exactMatch Orphanet:324930 Granulomatous autoinflammatory syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017956 obsolete mixed autoinflammatory and autoimmune syndrome skos:exactMatch Orphanet:324933 Mixed autoinflammatory and autoimmune syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017957 obsolete unclassified autoinflammatory syndrome skos:exactMatch Orphanet:324936 Unclassified autoinflammatory syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017961 obsolete 46,XX disorder of gonadal development skos:exactMatch Orphanet:325055 46,XX disorder of gonadal development semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017962 obsolete 46,XX disorder of sex development induced by fetoplacental androgens excess skos:exactMatch Orphanet:325061 46,XX difference of sex development induced by fetoplacental androgens excess semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017963 obsolete 46,XX disorder of sex development induced by endogenous maternal-derived androgen skos:exactMatch Orphanet:325093 46,XX difference of sex development induced by endogenous maternal-derived androgen semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017964 obsolete 46,XX disorder of sex development induced by exogenous maternal-derived androgen skos:exactMatch Orphanet:325099 46,XX difference of sex development induced by exogenous maternal-derived androgen semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017965 obsolete syndrome with 46,XX disorder of sex development skos:exactMatch Orphanet:325109 Syndrome with 46,XX difference of sex development semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017966 obsolete 46,XY disorder of gonadal development skos:exactMatch Orphanet:325118 46,XY disorder of gonadal development semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017969 obsolete 46,XY disorder of sex development of endocrine origin skos:exactMatch Orphanet:325351 46,XY difference of sex development of endocrine origin semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017976 obsolete disorder of sex development of gynecological interest skos:exactMatch Orphanet:325620 Difference of sex development of gynecological interest semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017977 obsolete 46,XY disorder of sex development of gynecological interest skos:exactMatch Orphanet:325632 46,XY difference of sex development of gynecological interest semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0017978 obsolete syndrome with disorder of sex development of gynecological interest skos:exactMatch Orphanet:325638 Syndrome with difference of sex development of gynecological interest semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018033 obsolete other immunodeficiency syndromes due to defects in innate immunity skos:exactMatch Orphanet:331193 Other immunodeficiency syndromes due to defects in innate immunity semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018035 obsolete syndrome with combined immunodeficiency skos:exactMatch Orphanet:331217 Syndrome with combined immunodeficiency semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018038 obsolete immunodeficiency with isotype or light chain deficiencies with normal number of B-cells skos:exactMatch Orphanet:331232 Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018041 obsolete other immunodeficiency syndrome with predominantly antibody defects skos:exactMatch Orphanet:331244 Other immunodeficiency syndrome with predominantly antibody defects semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018118 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement skos:exactMatch Orphanet:352306 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018119 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement skos:exactMatch Orphanet:352309 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018120 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement skos:exactMatch Orphanet:352312 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018157 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis skos:exactMatch Orphanet:35696 Mitochondrial disorder due to a defect in mitochondrial protein synthesis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018185 obsolete congenital anomaly of the great veins skos:exactMatch Orphanet:363189 Congenital anomaly of the great veins semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018187 obsolete hereditary syndromic Pierre Robin syndrome skos:exactMatch Orphanet:363294 Genetic syndromic Pierre Robin syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018188 obsolete hereditary intestinal polyposis skos:exactMatch Orphanet:363314 Genetic intestinal polyposis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018191 obsolete tumor of testis and paratestis skos:exactMatch Orphanet:363472 Tumor of testis and paratestis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018200 obsolete acute encephalopathy with inflammation-mediated status epilepticus skos:exactMatch Orphanet:363567 Acute encephalopathy with inflammation-mediated status epilepticus semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018231 obsolete primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments skos:exactMatch Orphanet:364531 Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018232 obsolete primary bone dysplasia with micromelia skos:exactMatch Orphanet:364536 Primary bone dysplasia with micromelia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018235 obsolete dysostosis with limb anomaly as a major feature skos:exactMatch Orphanet:364568 Dysostosis with limb anomaly as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018236 obsolete dysostosis with limb and face anomalies as a major feature skos:exactMatch Orphanet:364571 Dysostosis with limb and face anomalies as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018239 obsolete aggrecan-related bone disorder skos:exactMatch Orphanet:364817 Aggrecan-related bone disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018246 obsolete homozygous 2p21 microdeletion syndrome skos:exactMatch Orphanet:369886 Homozygous 2p21 microdeletion syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018262 obsolete fetal anticonvulsant syndrome skos:exactMatch Orphanet:370068 Fetal anticonvulsant syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018265 obsolete rare disorder with dystonia and other neurologic or systemic manifestation skos:exactMatch Orphanet:370106 Rare disorder with dystonia and other neurologic or systemic manifestation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018283 obsolete primary qualitative or quantitative defects of alpha-dystroglycan skos:exactMatch Orphanet:371040 Primary qualitative or quantitative defects of alpha-dystroglycan semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018284 obsolete congenital disorder of glycosylation with neurological involvement skos:exactMatch Orphanet:371047 Congenital disorder of glycosylation with neurological involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018287 obsolete congenital disorder of glycosylation with epilepsy as a major feature skos:exactMatch Orphanet:371071 Congenital disorder of glycosylation with epilepsy as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018288 obsolete congenital disorder of glycosylation with hepatic involvement skos:exactMatch Orphanet:371157 Congenital disorder of glycosylation with hepatic involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018290 obsolete congenital disorder of glycosylation with cardiac malformation as a major feature skos:exactMatch Orphanet:371183 Congenital disorder of glycosylation with cardiac malformation as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018291 obsolete congenital disorder of glycosylation with intestinal involvement skos:exactMatch Orphanet:371188 Congenital disorder of glycosylation with intestinal involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018292 obsolete congenital disorder of glycosylation-related bone disorder skos:exactMatch Orphanet:371195 Congenital disorder of glycosylation-related bone disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018293 obsolete congenital disorder of glycosylation with skin involvement skos:exactMatch Orphanet:371200 Congenital disorder of glycosylation with skin involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018294 obsolete congenital disorder of glycosylation with nephropathy as a major feature skos:exactMatch Orphanet:371207 Congenital disorder of glycosylation with nephropathy as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018295 obsolete congenital disorder of glycosylation with deafness as a major feature skos:exactMatch Orphanet:371212 Congenital disorder of glycosylation with deafness as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018296 obsolete congenital disorder of glycosylation with developmental anomaly skos:exactMatch Orphanet:371235 Congenital disorder of glycosylation with developmental anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018299 obsolete sphingolipidosis with epilepsy skos:exactMatch Orphanet:371442 Sphingolipidosis with epilepsy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018318 obsolete disorder of asparagine metabolism skos:exactMatch Orphanet:391381 Disorder of asparagine metabolism semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018329 obsolete persistent combined dystonia skos:exactMatch Orphanet:391711 Persistent combined dystonia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018368 primary peritoneal serous/papillary carcinoma skos:exactMatch Orphanet:398980 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018377 obsolete rare hereditary disease with avascular necrosis skos:exactMatch Orphanet:399185 Rare hereditary disease with avascular necrosis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018384 obsolete avascular necrosis of genetic origin skos:exactMatch Orphanet:399388 Avascular necrosis of genetic origin semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018385 obsolete osteochondrosis of genetic origin skos:exactMatch Orphanet:399391 Osteochondrosis of genetic origin semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018386 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder skos:exactMatch Orphanet:399572 Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018387 obsolete rare male infertility due to adrenal disorder skos:exactMatch Orphanet:399584 Rare male infertility due to adrenal disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018388 obsolete rare male infertility due to testicular endocrine disorder skos:exactMatch Orphanet:399685 Rare male infertility due to testicular endocrine disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018389 obsolete male infertility due to gonadal dysgenesis or sperm disorder skos:exactMatch Orphanet:399764 Male infertility due to gonadal dysgenesis or sperm disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018390 obsolete male infertility due to sperm disorder skos:exactMatch Orphanet:399771 Male infertility due to sperm disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018391 obsolete male infertility with spermatogenesis disorder skos:exactMatch Orphanet:399775 Male infertility with spermatogenesis disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018392 obsolete male infertility with spermatogenesis disorder due to single gene mutation skos:exactMatch Orphanet:399786 Male infertility with spermatogenesis disorder due to single gene mutation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018395 obsolete male infertility due to sperm motility disorder skos:exactMatch Orphanet:399813 Male infertility due to sperm motility disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018396 obsolete rare male fertility disorder with obstructive azoospermia skos:exactMatch Orphanet:399824 Rare disorder with obstructive azoospermia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018397 obsolete female infertility due to hypothalamic-pituitary-gonadal axis disorder skos:exactMatch Orphanet:399831 Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018398 obsolete female infertility due to a congenital hypogonadotropic hypogonadism skos:exactMatch Orphanet:399839 Rare female infertility due to a congenital hypogonadotropic hypogonadism semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018400 obsolete rare female infertility due to an adrenal disorder skos:exactMatch Orphanet:399849 Rare female infertility due to an adrenal disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018401 obsolete female infertility due to an anomaly of ovarian function skos:exactMatch Orphanet:399853 Rare female infertility due to an anomaly of ovarian function semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018402 obsolete female infertility due to gonadal dysgenesis skos:exactMatch Orphanet:399877 Rare female infertility due to gonadal dysgenesis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018403 obsolete female infertility due to an implantation defect skos:exactMatch Orphanet:399882 Rare female infertility due to an implantation defect semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018404 obsolete rare genetic male infertility skos:exactMatch Orphanet:399980 Rare genetic male infertility semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018405 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin skos:exactMatch Orphanet:399983 Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018406 obsolete rare male infertility due to adrenal disorder of genetic origin skos:exactMatch Orphanet:399994 Rare male infertility due to adrenal disorder of genetic origin semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018407 obsolete male infertility due to obstructive azoospermia of genetic origin skos:exactMatch Orphanet:399998 Male infertility due to obstructive azoospermia of genetic origin semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018409 obsolete rare genetic disorder with obstructive azoospermia skos:exactMatch Orphanet:400003 Rare genetic disorder with obstructive azoospermia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018410 obsolete rare genetic female infertility skos:exactMatch Orphanet:400008 Rare genetic female infertility semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018411 obsolete rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin skos:exactMatch Orphanet:400011 Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018412 obsolete rare female infertility due to adrenal disorder of genetic origin skos:exactMatch Orphanet:400018 Rare female infertility due to adrenal disorder of genetic origin semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018413 obsolete female infertility due to an anomaly of ovarian function of genetic origin skos:exactMatch Orphanet:400022 Rare female infertility due to an anomaly of ovarian function of genetic origin semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018414 obsolete female infertility due to an implantation defect of genetic origin skos:exactMatch Orphanet:400025 Female infertility due to an implantation defect of genetic origin semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018444 obsolete female infertility due to fertilization defect skos:exactMatch Orphanet:404469 Rare female infertility due to oocyte maturation defect semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018451 obsolete X-linked distal hereditary motor neuropathy skos:exactMatch Orphanet:404538 X-linked distal hereditary motor neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018454 obsolete dysostosis of genetic origin skos:exactMatch Orphanet:404568 Dysostosis of genetic origin semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018455 obsolete dysostosis of genetic origin with limb anomaly as a major feature skos:exactMatch Orphanet:404571 Dysostosis of genetic origin with limb anomaly as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018457 obsolete rare genetic bone development disorder skos:exactMatch Orphanet:404584 Rare genetic bone development disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018488 obsolete rare genetic odontal or periodontal disorder skos:exactMatch Orphanet:420755 Rare genetic odontal or periodontal disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018496 obsolete ARX-related encephalopathy-brain malformation spectrum skos:exactMatch Orphanet:423655 ARX-related encephalopathy-brain malformation spectrum semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018497 obsolete rare autonomic nervous system disorder skos:exactMatch Orphanet:423662 Rare autonomic nervous system disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018501 obsolete rare carcinoma of stomach skos:exactMatch Orphanet:423771 Rare carcinoma of stomach semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018520 obsolete rare epithelial tumor of pancreas skos:exactMatch Orphanet:424033 Rare epithelial tumor of pancreas semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018529 obsolete qualitative or quantitative defects of Torsin-1A-interacting protein 1 skos:exactMatch Orphanet:424925 Qualitative or quantitative defects of Torsin-1A-interacting protein 1 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018538 obsolete inherited digestive cancer-predisposing syndrome skos:exactMatch Orphanet:425003 Inherited digestive cancer-predisposing syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018545 obsolete primary immunodeficiency with predisposition to severe viral infection skos:exactMatch Orphanet:431156 Primary immunodeficiency with predisposition to severe viral infection semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018549 obsolete late-onset scapuloperoneal muscular dystrophy with hyaline bodies skos:exactMatch Orphanet:431263 Late-onset scapuloperoneal muscular dystrophy with hyaline bodies semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018550 obsolete spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder skos:exactMatch Orphanet:431320 Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018557 obsolete rare genetic autonomic nervous system disorder skos:exactMatch Orphanet:434786 Rare genetic autonomic nervous system disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018558 obsolete syndrome with wooly hair skos:exactMatch Orphanet:434809 Syndrome with woolly hair semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018562 obsolete hereditary otorhinolaryngological malformation skos:exactMatch Orphanet:435603 Genetic otorhinolaryngological malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018579 obsolete disorder of ketone body transport skos:exactMatch Orphanet:438072 Disorder of keton body transport semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018609 obsolete syndromic hereditary optic neuropathy skos:exactMatch Orphanet:441434 Syndromic hereditary optic neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018652 obsolete biological anomaly without phenotypic characterization skos:exactMatch Orphanet:447874 Biological anomaly without phenotypic characterization semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018701 obsolete congenital nemaline myopathy skos:exactMatch Orphanet:457074 Congenital nemaline myopathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018718 obsolete vascular tumor with associated anomalies skos:exactMatch Orphanet:458827 Vascular tumor with associated anomalies semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018719 obsolete obsolete rare capillary malformation with associated anomalies skos:exactMatch Orphanet:458830 Rare capillary malformation with associated anomalies semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018720 obsolete common cystic lymphatic malformation skos:exactMatch Orphanet:458833 Common cystic lymphatic malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018721 obsolete rare combined vascular malformation skos:exactMatch Orphanet:458837 Rare combined vascular malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018723 obsolete rare vascular malformation of major vessels skos:exactMatch Orphanet:458844 Rare vascular malformation of major vessels semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018727 obsolete immunodeficiency due to a complement regulatory deficiency skos:exactMatch Orphanet:459348 Immunodeficiency due to a complement regulatory deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018728 obsolete rare genetic capillary malformation skos:exactMatch Orphanet:459526 Rare genetic capillary malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018729 obsolete genetic vascular tumor skos:exactMatch Orphanet:459543 Rare genetic vascular tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018730 obsolete rare genetic venous malformation skos:exactMatch Orphanet:459548 Rare genetic venous malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018731 obsolete lethal multiple congenital anomalies/dysmorphic syndrome skos:exactMatch Orphanet:459787 Lethal multiple congenital anomalies/dysmorphic syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018743 obsolete immune-mediated acquired neuromuscular junction disease skos:exactMatch Orphanet:464764 Immune-mediated acquired neuromuscular junction disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018753 obsolete rare disease with malignant hyperthermia skos:exactMatch Orphanet:466658 Rare disease with malignant hyperthermia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018771 obsolete congenital anomaly of ventricular septum skos:exactMatch Orphanet:474347 Rare congenital anomaly of ventricular septum semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018775 obsolete axonal hereditary motor and sensory neuropathy skos:exactMatch Orphanet:476109 Axonal hereditary motor and sensory neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018779 obsolete hypercontractile muscle stiffness syndrome skos:exactMatch Orphanet:476403 Hypercontractile muscle stiffness syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018787 obsolete genetic cerebral small vessel disease skos:exactMatch Orphanet:477754 Genetic cerebral small vessel disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018788 obsolete COL4A1 or COL4A2-related cerebral small vessel disease skos:exactMatch Orphanet:477759 COL4A1 or COL4A2-related cerebral small vessel disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018789 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy skos:exactMatch Orphanet:477762 COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018790 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy skos:exactMatch Orphanet:477765 COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018791 obsolete Moyomoya angiopathy skos:exactMatch Orphanet:477768 Moyamoya angiopathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018792 obsolete Moyamoya syndrome skos:exactMatch Orphanet:477771 Rare disorder with a moyamoya angiopathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018796 obsolete isolated constitutional thrombocytopenia skos:exactMatch Orphanet:477797 Isolated constitutional thrombocytopenia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018797 obsolete genetic cardiac malformation skos:exactMatch Orphanet:477805 Genetic cardiac malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018798 obsolete other genetic dermis disorder skos:exactMatch Orphanet:477808 Other genetic dermis disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018799 obsolete rare hypercholesterolemia skos:exactMatch Orphanet:477811 Rare hypercholesterolemia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018831 obsolete HTRA1-related cerebral small vessel disease skos:exactMatch Orphanet:482072 HTRA1-related cerebral small vessel disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018833 obsolete rare idiopathic macular telangiectasia skos:exactMatch Orphanet:482092 Rare idiopathic macular telangiectasia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018880 obsolete rare teratologic disease skos:exactMatch Orphanet:52662 Rare teratologic disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018928 obsolete rare hepatic disease skos:exactMatch Orphanet:57146 Rare hepatic disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0018972 obsolete rare epithelial tumor of stomach skos:exactMatch Orphanet:63443 Rare epithelial tumor of stomach semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019038 obsolete rare maxillo-facial surgical disease skos:exactMatch Orphanet:68329 Rare maxillo-facial surgical disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019039 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect skos:exactMatch Orphanet:68334 Rare hemorrhagic disorder due to a constitutional coagulation factors defect semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019041 obsolete rare genetic inherited tumor skos:exactMatch Orphanet:68336 Rare genetic tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019043 obsolete rare genetic skin disease skos:exactMatch Orphanet:68346 Rare genetic skin disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019044 obsolete tumor of hematopoietic and lymphoid tissues skos:exactMatch Orphanet:68347 Tumor of hematopoietic and lymphoid tissues semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019047 obsolete rare deafness skos:exactMatch Orphanet:68361 Rare deafness semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019048 obsolete rare vascular disease skos:exactMatch Orphanet:68362 Rare vascular disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019049 obsolete rare dystonia skos:exactMatch Orphanet:68363 Rare dystonia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019058 obsolete neurometabolic disease skos:exactMatch Orphanet:68385 Neurometabolic disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019059 obsolete rare parkinsonian disorder skos:exactMatch Orphanet:68402 Rare parkinsonian disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019061 obsolete rare parathyroid disease and phosphocalcic metabolism anomaly skos:exactMatch Orphanet:68415 Rare parathyroid disease and phosphocalcic metabolism anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019062 obsolete rare infectious disease skos:exactMatch Orphanet:68416 Rare infectious disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019063 obsolete vascular anomaly skos:exactMatch Orphanet:68419 Vascular anomaly or angioma semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019066 obsolete syndrome with brachydactyly skos:exactMatch Orphanet:69028 Dysostosis with brachydactyly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019096 obsolete rare pulmonary hypertension skos:exactMatch Orphanet:71198 Rare pulmonary hypertension semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019097 obsolete hemorrhagic disorder due to a constitutional platelet anomaly skos:exactMatch Orphanet:71202 Rare hemorrhagic disorder due to a constitutional platelet anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019099 obsolete rare soft tissue tumor skos:exactMatch Orphanet:71209 Rare soft tissue tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019110 obsolete rare central nervous system or retinal vascular disease skos:exactMatch Orphanet:71281 Rare central nervous system and retinal vascular disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019117 obsolete genetic nervous system disorder skos:exactMatch Orphanet:71859 Rare genetic neurological disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019183 obsolete inherited odontologic disease skos:exactMatch Orphanet:77830 Rare genetic odontologic disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019252 obsolete other metabolic disease with skin involvement skos:exactMatch Orphanet:79217 Other metabolic disease with skin involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019271 obsolete acrokeratoderma skos:exactMatch Orphanet:79356 Acrokeratoderma semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019274 obsolete other epidermal disorder skos:exactMatch Orphanet:79359 Other epidermal disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019275 obsolete other genetic epidermal disease skos:exactMatch Orphanet:79360 Other genetic epidermal disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019277 obsolete epidermal appendage anomaly skos:exactMatch Orphanet:79362 Epidermal appendage anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019281 obsolete isolated genetic hair shaft abnormality skos:exactMatch Orphanet:79366 Isolated hair shaft abnormality semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019282 obsolete syndromic hair shaft abnormality skos:exactMatch Orphanet:79367 Syndromic hair shaft abnormality semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019285 obsolete syndromic nail anomaly skos:exactMatch Orphanet:79370 Syndromic nail anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019286 obsolete sebaceous gland anomaly skos:exactMatch Orphanet:79372 Sebaceous gland anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019292 obsolete dermis elastic tissue disorder skos:exactMatch Orphanet:79378 Dermis elastic tissue disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019298 obsolete rare urticaria skos:exactMatch Orphanet:79384 Rare urticaria semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019299 obsolete unclassified genetic skin disorder skos:exactMatch Orphanet:79385 Unclassified genetic skin disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019300 obsolete rare skin tumor or hamartoma skos:exactMatch Orphanet:79386 Rare skin tumor or hamartoma semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019301 obsolete metabolic disease with skin involvement skos:exactMatch Orphanet:79387 Metabolic disease with skin involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019304 obsolete rare photodermatosis skos:exactMatch Orphanet:79390 Rare photodermatosis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019305 obsolete immune deficiency with skin involvement skos:exactMatch Orphanet:79391 Immune deficiency with skin involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019491 obsolete rare intellectual disability skos:exactMatch Orphanet:87277 Rare intellectual disability semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019513 obsolete esophageal malformation skos:exactMatch Orphanet:88993 Esophageal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019515 obsolete rare dementia skos:exactMatch Orphanet:89043 Rare dementia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019519 obsolete rare skin disease skos:exactMatch Orphanet:89826 Rare skin disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019546 obsolete other acquired skin disease skos:exactMatch Orphanet:90077 Other acquired skin disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019590 obsolete rare endocrine growth disease skos:exactMatch Orphanet:90692 Rare endocrine growth disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019593 obsolete 46,XX disorder of sex development induced by fetal androgens excess skos:exactMatch Orphanet:90776 46,XX difference of sex development induced by fetal androgens excess semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019599 obsolete primary lipodystrophy skos:exactMatch Orphanet:90970 Primary lipodystrophy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019602 obsolete other inborn metabolic disease skos:exactMatch Orphanet:91088 Other metabolic disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019608 obsolete 46,XX disorder of sex development induced by maternal-derived androgen skos:exactMatch Orphanet:91144 46,XX difference of sex development induced by maternal-derived androgen semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019619 obsolete duplication of the esophagus skos:exactMatch Orphanet:91357 Duplication of the esophagus semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019684 obsolete rare bone disease skos:exactMatch Orphanet:93419 Rare bone disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019688 obsolete sulfation-related bone disorder skos:exactMatch Orphanet:93423 Sulfation-related bone disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019689 obsolete perlecan-related bone disorder skos:exactMatch Orphanet:93424 Perlecan-related bone disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019692 obsolete multiple epiphyseal dysplasia and pseudoachondroplasia skos:exactMatch Orphanet:93429 Multiple epiphyseal dysplasia and pseudoachondroplasia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019704 obsolete primary bone dysplasia with decreased bone density skos:exactMatch Orphanet:93446 Primary bone dysplasia with decreased bone density semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019705 obsolete primary bone dysplasia with defective bone mineralization skos:exactMatch Orphanet:93447 Primary bone dysplasia with defective bone mineralization semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019709 obsolete cleidocranial dysplasia and isolated cranial ossification defect skos:exactMatch Orphanet:93451 Cleidocranial dysplasia and isolated cranial ossification defect semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019712 obsolete patellar dysostosis skos:exactMatch Orphanet:93455 Patellar dysostosis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019714 obsolete non-syndromic polydactyly, syndactyly and/or hyperphalangy skos:exactMatch Orphanet:93458 Non-syndromic polydactyly, syndactyly and/or hyperphalangy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019717 obsolete chromosomal disease with overgrowth skos:exactMatch Orphanet:93461 Chromosomal disease with overgrowth semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019743 obsolete nephropathy secondary to a storage or other metabolic disease skos:exactMatch Orphanet:93593 Nephropathy secondary to a storage or other metabolic disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019744 obsolete rare renal tubular disease skos:exactMatch Orphanet:93603 Rare renal tubular disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019747 obsolete hematological disorder with renal involvement skos:exactMatch Orphanet:93614 Hematological disorder with renal involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019748 obsolete rare cause of hypertension skos:exactMatch Orphanet:93618 Rare cause of hypertension semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019749 obsolete rare renal tumor skos:exactMatch Orphanet:93619 Rare renal tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019750 obsolete rare renal disease skos:exactMatch Orphanet:93626 Rare renal disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019800 obsolete chronic hepatic porphyria skos:exactMatch Orphanet:95161 Chronic hepatic porphyria semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019822 obsolete arterial duct anomaly skos:exactMatch Orphanet:95485 Arterial duct anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019827 obsolete disease associated with non-acquired combined pituitary hormone deficiency skos:exactMatch Orphanet:95495 Disease associated with non-acquired combined pituitary hormone deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019833 obsolete pituitary hormone deficiency from tumoral origin skos:exactMatch Orphanet:95503 Pituitary hormone deficiency of tumoral origin semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019834 obsolete pituitary hormone deficiency from meningeal origin skos:exactMatch Orphanet:95505 Pituitary hormone deficiency of meningeal origin semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019841 obsolete pituitary hormone defiency from vascular origin skos:exactMatch Orphanet:95611 Pituitary hormone deficiency of vascular origin semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019843 obsolete pituitary hormone deficiency secondary to a granulomatous disease skos:exactMatch Orphanet:95617 Pituitary hormone deficiency secondary to a granulomatous disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019844 obsolete pituitary hormone deficiency secondary to storage disease skos:exactMatch Orphanet:95618 Pituitary hormone deficiency secondary to storage disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019856 obsolete primary congenital hypothyroidism without thyroid developmental anomaly skos:exactMatch Orphanet:95714 Primary congenital hypothyroidism without thyroid developmental anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019859 obsolete congenital thyroid malformation without hypothyroidism skos:exactMatch Orphanet:95718 Congenital thyroid malformation without hypothyroidism semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019936 obsolete rare otorhinolaryngological malformation skos:exactMatch Orphanet:96333 Rare otorhinolaryngological malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019937 obsolete rare gynecologic or obstetric disease skos:exactMatch Orphanet:96344 Rare gynecologic or obstetric disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019965 obsolete rare benign ovarian tumor skos:exactMatch Orphanet:97293 Rare benign ovarian tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019996 obsolete rare cardiac disease skos:exactMatch Orphanet:97929 Rare cardiac disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019997 obsolete rare gastroenterologic disease skos:exactMatch Orphanet:97935 Rare gastroenterologic disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0019998 obsolete gastroduodenal malformation skos:exactMatch Orphanet:97944 Gastroduodenal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020000 obsolete rare respiratory disease skos:exactMatch Orphanet:97955 Rare respiratory disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020002 obsolete rare surgical thoracic disease skos:exactMatch Orphanet:97962 Rare surgical thoracic disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020003 obsolete rare surgical cardiac disease skos:exactMatch Orphanet:97965 Rare surgical cardiac disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020004 obsolete rare eye disease skos:exactMatch Orphanet:97966 Rare ophthalmic disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020005 obsolete rare endocrine disease skos:exactMatch Orphanet:97978 Rare endocrine disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020008 obsolete rare immune disease skos:exactMatch Orphanet:98004 Rare immune disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020009 obsolete rare neurologic disease skos:exactMatch Orphanet:98006 Rare neurologic disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020011 obsolete rare headache disorder skos:exactMatch Orphanet:98022 Rare headache semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020013 obsolete rare odontologic disease skos:exactMatch Orphanet:98026 Rare odontologic disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020014 obsolete rare disease with odontological manifestation skos:exactMatch Orphanet:98027 Rare disease with odontological manifestation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020015 obsolete rare circulatory system disease skos:exactMatch Orphanet:98028 Rare circulatory system disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020016 obsolete rare neurologic disease with psychiatric involvement skos:exactMatch Orphanet:98033 Rare neurologic disease with psychiatric involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020017 obsolete rare otorhinolaryngologic disease skos:exactMatch Orphanet:98036 Rare otorhinolaryngologic disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020018 obsolete cranial malformation skos:exactMatch Orphanet:98038 Cranial malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020019 obsolete digestive tract malformation skos:exactMatch Orphanet:98039 Digestive tract malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020020 obsolete visceral malformation of the liver, biliary tract, pancreas or spleen skos:exactMatch Orphanet:98041 Visceral malformation of the liver, biliary tract, pancreas or spleen semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020021 obsolete diaphragmatic or abdominal wall malformation skos:exactMatch Orphanet:98043 Diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020023 obsolete respiratory or mediastinal malformation skos:exactMatch Orphanet:98045 Respiratory or mediastinal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020024 obsolete rare infertility skos:exactMatch Orphanet:98047 Rare infertility semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020025 obsolete rare male infertility skos:exactMatch Orphanet:98048 Rare male infertility semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020026 obsolete rare female infertility skos:exactMatch Orphanet:98049 Rare female infertility semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020027 obsolete rare allergic disease skos:exactMatch Orphanet:98050 Rare allergic disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020028 obsolete rare allergic respiratory disease skos:exactMatch Orphanet:98052 Rare allergic respiratory disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020029 obsolete rare genetic cardiac disease skos:exactMatch Orphanet:98054 Rare genetic cardiac disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020030 obsolete rare genetic renal disease skos:exactMatch Orphanet:98056 Rare genetic renal disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020031 obsolete rare tumor skos:exactMatch Orphanet:98057 Rare tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020032 obsolete rare urinary tract tumor skos:exactMatch Orphanet:98058 Rare urinary tract tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020033 obsolete rare digestive tumor skos:exactMatch Orphanet:98059 Rare digestive tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020034 obsolete rare respiratory tract neoplasm skos:exactMatch Orphanet:98060 Rare respiratory tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020035 obsolete rare otorhinolaryngologic tumor skos:exactMatch Orphanet:98061 Rare otorhinolaryngologic tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020036 obsolete rare nervous system tumor skos:exactMatch Orphanet:98062 Rare nervous system tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020037 obsolete rare gynecological tumor skos:exactMatch Orphanet:98063 Rare gynecological tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020038 obsolete gonadal dysgenesis of gynecological interest skos:exactMatch Orphanet:98074 Gonadal dysgenesis of gynecological interest semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020039 obsolete 46,XX disorder of sex development induced by androgens excess skos:exactMatch Orphanet:98078 46,XX difference of sex development induced by androgens excess semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020042 obsolete syndrome with 46,XY disorder of sex development skos:exactMatch Orphanet:98087 Syndrome with 46,XY difference of sex development semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020050 obsolete autosomal trisomy skos:exactMatch Orphanet:98130 Autosomal trisomy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020051 obsolete total autosomal trisomy skos:exactMatch Orphanet:98131 Total autosomal trisomy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020052 obsolete partial autosomal trisomy/tetrasomy skos:exactMatch Orphanet:98132 Partial autosomal duplication/triplication semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020053 obsolete total autosomal monosomy skos:exactMatch Orphanet:98141 Total autosomal monosomy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020055 obsolete autosomal uniparental disomy skos:exactMatch Orphanet:98152 Autosomal uniparental disomy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020059 obsolete gonosome number anomaly skos:exactMatch Orphanet:98156 Sex-chromosome number anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020060 obsolete gonosome structural anomaly skos:exactMatch Orphanet:98157 Sex-chromosome structural anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020062 obsolete chromosome X structural anomaly skos:exactMatch Orphanet:98159 Chromosome X structural anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020063 obsolete malformation syndrome with hamartosis skos:exactMatch Orphanet:98196 Malformation syndrome with hamartosis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020069 obsolete chronic encephalitis skos:exactMatch Orphanet:98255 Chronic encephalitis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020090 obsolete male infertility due to gonadal dysgenesis skos:exactMatch Orphanet:98313 Male infertility due to gonadal dysgenesis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020091 obsolete male infertility due to obstructive azoospermia skos:exactMatch Orphanet:98343 Male infertility due to obstructive azoospermia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020093 obsolete autosomal dominant isolated diffuse palmoplantar keratoderma skos:exactMatch Orphanet:98349 Autosomal dominant isolated diffuse palmoplantar keratoderma semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020094 obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:98352 Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020095 obsolete autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:98353 Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020096 obsolete autosomal recessive isolated diffuse palmoplantar keratoderma skos:exactMatch Orphanet:98356 Autosomal recessive isolated diffuse palmoplantar keratoderma semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020097 obsolete autosomal recessive disease with focal palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:98357 Autosomal recessive disease with focal palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020098 obsolete constitutional anemia due to iron metabolism disorder skos:exactMatch Orphanet:98360 Constitutional anemia due to iron metabolism disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020100 obsolete rare hemolytic anemia skos:exactMatch Orphanet:98363 Rare hemolytic anemia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020101 obsolete constitutional hemolytic anemia due to membrane defect skos:exactMatch Orphanet:98364 Rare constitutional hemolytic anemia due to a red cell membrane anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020104 obsolete rare constitutional hemolytic anemia due to an enzyme disorder skos:exactMatch Orphanet:98369 Rare constitutional hemolytic anemia due to an enzyme disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020105 obsolete hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies skos:exactMatch Orphanet:98370 Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020109 obsolete constitutional megaloblastic anemia due to vitamin B12 metabolism disorder skos:exactMatch Orphanet:98396 Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020111 obsolete constitutional megaloblastic anemia due to folate metabolism disorder skos:exactMatch Orphanet:98408 Constitutional megaloblastic anemia due to folate metabolism disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020116 obsolete rare blood coagulation disease skos:exactMatch Orphanet:98429 Rare coagulation disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020125 obsolete acquired neuromuscular junction disease skos:exactMatch Orphanet:98494 Acquired neuromuscular junction disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020126 obsolete rare peripheral neuropathy skos:exactMatch Orphanet:98496 Rare peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020130 obsolete malformation of the cerebellar vermis skos:exactMatch Orphanet:98514 Malformation of the cerebellar vermis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020131 obsolete malformation of the cerebellar hemispheres skos:exactMatch Orphanet:98516 Malformation of the cerebellar hemispheres semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020132 obsolete cranial nerve and nuclear aplasia skos:exactMatch Orphanet:98518 Cranial nerve and nuclear aplasia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020133 obsolete posterior fossa malformation skos:exactMatch Orphanet:98519 Posterior fossa malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020136 obsolete neurodegenerative disease with dementia skos:exactMatch Orphanet:98534 Neurodegenerative disease with dementia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020137 obsolete frontotemporal degeneration with dementia skos:exactMatch Orphanet:98535 Frontotemporal degeneration with dementia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020138 obsolete ataxia with dementia skos:exactMatch Orphanet:98538 Ataxia with dementia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020139 obsolete early-onset ataxia with dementia skos:exactMatch Orphanet:98539 Early-onset ataxia with dementia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020140 obsolete late-onset ataxia with dementia skos:exactMatch Orphanet:98540 Late-onset ataxia with dementia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020141 obsolete infectious disease with dementia skos:exactMatch Orphanet:98542 Infectious disease with dementia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020142 obsolete metabolic disease with dementia skos:exactMatch Orphanet:98543 Metabolic disease with dementia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020144 obsolete cerebrovascular dementia skos:exactMatch Orphanet:98549 Rare cerebrovascular dementia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020148 obsolete syndromic aniridia skos:exactMatch Orphanet:98557 Syndromic aniridia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020151 obsolete rare palpebral disease skos:exactMatch Orphanet:98560 Rare palpebral disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020152 obsolete rare eyelid malformation skos:exactMatch Orphanet:98561 Congenital malformation of the eyelid semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020154 obsolete microblepharon-ablephara syndrome skos:exactMatch Orphanet:98563 Microblepharon-ablephara syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020155 obsolete eyelid border anomaly skos:exactMatch Orphanet:98564 Eyelid border anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020156 obsolete syndromic ankyloblepharon skos:exactMatch Orphanet:98565 Syndromic ankyloblepharon filiforme adnatum semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020157 obsolete syndromic palpebral coloboma skos:exactMatch Orphanet:98566 Syndromic eyelid coloboma semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020158 obsolete eyelids malposition disorder skos:exactMatch Orphanet:98567 Rare eyelid malposition disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020162 obsolete secondary ectropion skos:exactMatch Orphanet:98571 Secondary ectropion semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020165 obsolete syndromic epicanthus skos:exactMatch Orphanet:98574 Syndromic epicanthus semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020167 obsolete malposition of external canthus skos:exactMatch Orphanet:98576 Syndromic outer canthal malposition semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020184 obsolete rare eyebrow/eyelashes anomaly skos:exactMatch Orphanet:98594 Rare eyebrow/eyelash disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020192 obsolete rare lacrimal system disease skos:exactMatch Orphanet:98602 Rare disorder of the lacrimal apparatus semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020195 obsolete excretory apparatus of the lacrimal system anomaly skos:exactMatch Orphanet:98605 Lacrimal drainage system anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020197 obsolete EEC syndrome and related syndrome skos:exactMatch Orphanet:98609 EEC syndrome and related disorders semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020198 obsolete rare conjunctival disease skos:exactMatch Orphanet:98610 Rare disorder with conjunctival involvement as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020206 obsolete rare refraction anomaly skos:exactMatch Orphanet:98618 Rare refraction anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020209 obsolete rare hyperopia and astigmatism skos:exactMatch Orphanet:98621 Rare hyperopia and astigmatism semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020210 obsolete syndromic hyperopia skos:exactMatch Orphanet:98622 Syndromic hyperopia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020211 obsolete syndromic keratoconus skos:exactMatch Orphanet:98623 Syndromic keratoconus semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020216 obsolete secondary dysgenetic glaucoma skos:exactMatch Orphanet:98631 Congenital malformation of the eye with glaucoma as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020219 obsolete corneogoniodysgenesis skos:exactMatch Orphanet:98635 Corneodysgenesis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020222 obsolete rare disease with glaucoma as a major feature skos:exactMatch Orphanet:98638 Rare disease with glaucoma as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020223 obsolete lens and zonula anomaly skos:exactMatch Orphanet:98639 Rare lens disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020224 obsolete rare cataract skos:exactMatch Orphanet:98640 Rare disorder with lens opacification semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020225 obsolete syndromic cataract skos:exactMatch Orphanet:98641 Syndromic cataract semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020226 obsolete chromosomal anomaly with cataract skos:exactMatch Orphanet:98642 Chromosomal anomaly with cataract semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020228 obsolete cataract associated with a metabolic disease skos:exactMatch Orphanet:98644 Metabolic disease with cataract semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020230 obsolete renal disease with cataract skos:exactMatch Orphanet:98646 Renal disease with cataract semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020232 obsolete musculoskeletal disease with cataract skos:exactMatch Orphanet:98648 Musculoskeletal disease with cataract semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020233 obsolete dentocutaneous disease with cataract skos:exactMatch Orphanet:98649 Dentocutaneous disease with cataract semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020234 obsolete craniofacial anomaly with cataract skos:exactMatch Orphanet:98650 Craniofacial anomaly with cataract semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020235 obsolete lens size anomaly skos:exactMatch Orphanet:98652 Lens size anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020236 obsolete lens position anomaly skos:exactMatch Orphanet:98653 Lens position anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020237 obsolete lens shape anomaly skos:exactMatch Orphanet:98655 Lens shape anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020240 obsolete syndromic retinitis pigmentosa skos:exactMatch Orphanet:98661 Syndromic rod-cone dystrophy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020251 obsolete rare strabismus and restriction syndrome skos:exactMatch Orphanet:98681 Rare disorder with strabismus semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020253 obsolete syndrome with a symptomatic strabismus skos:exactMatch Orphanet:98683 Syndromic disorder with strabismus semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020254 obsolete craniostenosis associated with a strabismus skos:exactMatch Orphanet:98684 Craniostenosis with strabismus semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020284 obsolete heart position anomaly skos:exactMatch Orphanet:98716 Heart position anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020285 obsolete transposition of the great arteries and conotruncal cardiac anomaly skos:exactMatch Orphanet:98717 Transposition of the great arteries and conotruncal cardiac anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020286 obsolete aortic malformation skos:exactMatch Orphanet:98718 Aortic malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020287 obsolete pulmonary artery or pulmonary branch anomaly skos:exactMatch Orphanet:98719 Pulmonary artery or pulmonary branch anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020288 obsolete atrioventricular valve anomaly skos:exactMatch Orphanet:98720 Atrioventricular valve anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020293 obsolete ascending aorta anomaly skos:exactMatch Orphanet:98725 Ascending aorta anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020294 obsolete atrial defect and interatrial communication skos:exactMatch Orphanet:98727 Rare atrial defect and interatrial communication semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020339 obsolete X-linked complex spastic paraplegia skos:exactMatch Orphanet:98888 X-linked complex spastic paraplegia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020343 obsolete alpha-crystallinopathy skos:exactMatch Orphanet:98910 Alpha-crystallinopathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0020999 obsolete genetic chronic primary adrenal insufficiency skos:exactMatch Orphanet:101960 Genetic chronic primary adrenal insufficiency semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0021027 obsolete genetic hair anomaly skos:exactMatch Orphanet:183450 Genetic hair anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0021028 obsolete genetic nail anomaly skos:exactMatch Orphanet:183454 Genetic nail anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0021034 obsolete hereditary alopecia skos:exactMatch Orphanet:481771 Genetic alopecia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0021037 obsolete genetic neurodegenerative disease with dementia skos:exactMatch Orphanet:276058 Genetic neurodegenerative disease with dementia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0021198 obsolete rare genetic disease skos:exactMatch Orphanet:98053 Rare genetic disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0022397 obsolete retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene skos:exactMatch Orphanet:156168 Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0022400 obsolete retinal ciliopathy due to mutation in the RPGRIP gene skos:exactMatch Orphanet:156174 Retinal ciliopathy due to mutation in the RPGRIP gene semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0022404 obsolete retinal ciliopathy due to mutation in Usher gene skos:exactMatch Orphanet:156177 Retinal ciliopathy due to mutation in Usher gene semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0022405 obsolete retinal ciliopathy due to mutation in nephronophthisis gene skos:exactMatch Orphanet:156180 Retinal ciliopathy due to mutation in nephronophthisis gene semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0022407 obsolete retinal ciliopathy due to mutation in Bardet-Biedl gene skos:exactMatch Orphanet:156183 Retinal ciliopathy due to mutation in Bardet-Biedl gene semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0022409 obsolete nephropathy-associated ciliopathy skos:exactMatch Orphanet:156162 Renal ciliopathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0024145 obsolete Pierre Robin syndrome associated with collagen disease skos:exactMatch Orphanet:138041 Pierre Robin syndrome associated with collagen disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0024147 obsolete Pierre Robin syndrome associated with a chromosomal anomaly skos:exactMatch Orphanet:138047 Pierre Robin syndrome associated with a chromosomal anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0024148 obsolete Pierre Robin syndrome associated with branchial archs anomalies skos:exactMatch Orphanet:138050 Pierre Robin syndrome associated with branchial archs anomalies semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0024149 obsolete Pierre Robin syndrome associated with bone disease skos:exactMatch Orphanet:138055 Pierre Robin syndrome associated with bone disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0024471 obsolete non-inflammatory vasculopathy skos:exactMatch Orphanet:496924 Non-inflammatory vasculopathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0024987 obsolete genetic urogenital tract malformation skos:exactMatch Orphanet:156622 Genetic urogenital tract malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0025511 obsolete inherited neuroendocrine tumor skos:exactMatch Orphanet:271847 Genetic neuroendocrine tumor semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0026141 obsolete genetic urticaria skos:exactMatch Orphanet:182734 Genetic urticaria semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0026150 obsolete genetic erythrokeratoderma skos:exactMatch Orphanet:183438 Genetic erythrokeratoderma semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0026151 obsolete genetic acrokeratoderma skos:exactMatch Orphanet:183441 Genetic acrokeratoderma semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0026152 obsolete genetic porokeratosis skos:exactMatch Orphanet:183444 Genetic porokeratosis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0026157 obsolete genetic pigmentation anomaly of the skin skos:exactMatch Orphanet:183463 Genetic pigmentation anomaly of the skin semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0026160 obsolete genetic dermis disorder skos:exactMatch Orphanet:183472 Genetic dermis disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0026166 obsolete genetic immune deficiency with skin involvement skos:exactMatch Orphanet:183494 Genetic immune deficiency with skin involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0026167 obsolete genetic neuromuscular disease skos:exactMatch Orphanet:183497 Genetic neuromuscular disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0026170 obsolete genetic central nervous system malformation skos:exactMatch Orphanet:183506 Genetic central nervous system malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0026173 obsolete rare genetic medullar disease skos:exactMatch Orphanet:183515 Rare genetic medullar disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0026180 obsolete genetic congenital limb malformation skos:exactMatch Orphanet:183536 Genetic congenital limb malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0026181 obsolete genetic renal or urinary tract malformation skos:exactMatch Orphanet:183539 Genetic renal or urinary tract malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0026182 obsolete genetic cranial malformation skos:exactMatch Orphanet:183542 Genetic cranial malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0026183 obsolete genetic digestive tract malformation skos:exactMatch Orphanet:183545 Genetic digestive tract malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0026184 obsolete genetic visceral malformation of the liver, biliary tract, pancreas or spleen skos:exactMatch Orphanet:183548 Genetic visceral malformation of the liver, biliary tract, pancreas or spleen semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0026185 obsolete genetic respiratory or mediastinal malformation skos:exactMatch Orphanet:183554 Genetic respiratory or mediastinal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0026186 obsolete genetic developmental defect of the eye skos:exactMatch Orphanet:183557 Genetic developmental defect of the eye semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0026187 obsolete genetic malformation syndrome with short stature skos:exactMatch Orphanet:183570 Genetic malformation syndrome with short stature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0026188 obsolete genetic overgrowth/obesity syndrome skos:exactMatch Orphanet:183573 Genetic overgrowth/obesity syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0026189 obsolete genetic branchial arch or oral-acral syndrome skos:exactMatch Orphanet:183576 Genetic branchial arch or oral-acral syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0026190 obsolete genetic malformation syndrome with odontal and/or periodontal component skos:exactMatch Orphanet:183580 Genetic malformation syndrome with odontal and/or periodontal component semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0026192 obsolete genetic glomerular disease skos:exactMatch Orphanet:183586 Genetic glomerular disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0026193 obsolete genetic thrombotic microangiopathy skos:exactMatch Orphanet:183589 Genetic thrombotic microangiopathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0026203 obsolete genetic respiratory malformation skos:exactMatch Orphanet:183622 Genetic respiratory malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0026209 obsolete genetic polyendocrinopathy skos:exactMatch Orphanet:183643 Genetic polyendocrinopathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0027652 5-fluorouracil toxicity skos:exactMatch Orphanet:240839 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0027653 abacavir toxicity skos:exactMatch Orphanet:240841 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0027655 allopurinol toxicity skos:exactMatch Orphanet:240845 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0027664 cisplatin toxicity skos:exactMatch Orphanet:240863 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0027666 codeine toxicity skos:exactMatch Orphanet:240867 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0027667 efavirenz toxicity skos:exactMatch Orphanet:240869 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0027668 flucloxacilline toxicity skos:exactMatch Orphanet:240871 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0027675 irinotecan toxicity skos:exactMatch Orphanet:240885 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0027677 isoniazid toxicity skos:exactMatch Orphanet:240887 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0027687 raltegravir toxicity skos:exactMatch Orphanet:240905 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0027696 voriconazole toxicity skos:exactMatch Orphanet:240921 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0027750 obsolete serpinopathy with toxic serpin polymerization skos:exactMatch Orphanet:250808 Serpinopathy with toxic serpin polymerization semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0027751 obsolete serpinopathy with loss of serpin function skos:exactMatch Orphanet:250811 Serpinopathy with loss of serpin function semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0027929 obsolete genetic polycythemia skos:exactMatch Orphanet:250165 Genetic polycythemia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0028569 obsolete genetic interstitial lung disease skos:exactMatch Orphanet:264992 Genetic interstitial lung disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0028618 obsolete gastroenteric neuroendocrine neoplasm skos:exactMatch Orphanet:481508 Gastroenteric neuroendocrine neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0028737 obsolete biliary atresia disorder skos:exactMatch Orphanet:498345 Biliary atresia and associated disorders semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0028795 obsolete rare genetic systemic or rheumatologic disease skos:exactMatch Orphanet:271870 Rare genetic systemic or rheumatologic disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0028868 obsolete genetic frontotemporal degeneration with dementia skos:exactMatch Orphanet:276061 Genetic frontotemporal degeneration with dementia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0029014 obsolete rare systemic or rheumatological disease of childhood skos:exactMatch Orphanet:280342 Rare systemic or rheumatological disease of childhood semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0029102 obsolete autosomal ichthyosis syndrome with other associated signs skos:exactMatch Orphanet:281244 Autosomal ichthyosis syndrome with other associated signs semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0029810 obsolete laminopathy with striated muscle involvement skos:exactMatch Orphanet:300755 Laminopathy with striated muscle involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0029811 obsolete laminopathy with peripheral neuropathy skos:exactMatch Orphanet:300758 Laminopathy with peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0029812 obsolete laminopathy with lipodystrophy skos:exactMatch Orphanet:300763 Laminopathy with lipodystrophy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0029813 obsolete laminopathy with premature aging skos:exactMatch Orphanet:300766 Laminopathy with premature aging semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0030767 obsolete genetic tumor of hematopoietic and lymphoid tissues skos:exactMatch Orphanet:322126 Genetic tumor of hematopoietic and lymphoid tissues semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0031004 obsolete genetic disorder of sex development of gynecological interest skos:exactMatch Orphanet:325665 Genetic difference of sex development of gynecological interest semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0031016 obsolete genetic disorder of sex development skos:exactMatch Orphanet:325690 Genetic difference of sex development semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0031689 obsolete genetic progeroid syndrome skos:exactMatch Orphanet:363245 Genetic progeroid syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0031697 obsolete genetic intractable diarrhea of infancy skos:exactMatch Orphanet:363300 Genetic intractable diarrhea of infancy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0031698 obsolete genetic intestinal disease due to fat malabsorption skos:exactMatch Orphanet:363306 Genetic intestinal disease due to fat malabsorption semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0031949 obsolete genetic neurovascular malformation skos:exactMatch Orphanet:371436 Genetic neurovascular malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0031952 obsolete genetic syndromic esophageal malformation skos:exactMatch Orphanet:371445 Genetic syndromic esophageal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0032011 obsolete biological anomaly skos:exactMatch Orphanet:377790 Biological anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0032013 obsolete clinical syndrome skos:exactMatch Orphanet:377792 Clinical syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0032014 obsolete particular clinical situation in a disease or syndrome skos:exactMatch Orphanet:377793 Particular clinical situation in a disease or syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0032221 obsolete rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism skos:exactMatch Orphanet:399846 Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0033056 obsolete genetic facial cleft skos:exactMatch Orphanet:414726 Genetic facial cleft semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0033169 curariform drugs toxicity skos:exactMatch Orphanet:413693 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0033170 statin toxicity skos:exactMatch Orphanet:413696 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0033181 phenytoin or carbamazepine toxicity skos:exactMatch Orphanet:414750 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0033329 obsolete genetic precocious puberty skos:exactMatch Orphanet:435554 Genetic precocious puberty semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0033331 obsolete genetic precocious puberty in female skos:exactMatch Orphanet:435564 Genetic precocious puberty in female semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0033334 obsolete genetic nose and cavum anomaly skos:exactMatch Orphanet:435606 Genetic nose and cavum anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0033335 obsolete genetic larynx anomaly skos:exactMatch Orphanet:435609 Genetic larynx anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0033336 obsolete genetic tracheal anomaly skos:exactMatch Orphanet:435612 Genetic tracheal anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0033927 obsolete genetic complex vascular malformation with associated anomalies skos:exactMatch Orphanet:459537 Genetic complex vascular malformation with associated anomalies semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0034039 obsolete genetic hemoglobinopathy skos:exactMatch Orphanet:466066 Genetic hemoglobinopathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0034443 obsolete genetic non-acquired premature ovarian failure skos:exactMatch Orphanet:485382 Genetic premature ovarian failure semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0034641 obsolete rare genetic hyperkinetic movement disorder skos:exactMatch Orphanet:496916 Rare genetic hyperkinetic movement disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0034661 obsolete syndromic biliary atresia skos:exactMatch Orphanet:498350 Syndromic biliary atresia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0034667 obsolete longitudinal limb defect skos:exactMatch Orphanet:498457 Longitudinal limb defect semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0034668 obsolete terminal transverse limb defect skos:exactMatch Orphanet:498461 Terminal transverse limb defect semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0034669 obsolete non-syndromic preaxial polydactyly skos:exactMatch Orphanet:498464 Non-syndromic preaxial polydactyly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0034670 obsolete non-syndromic postaxial polydactyly skos:exactMatch Orphanet:498467 Non-syndromic postaxial polydactyly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0034671 obsolete non-syndromic complex polydactyly skos:exactMatch Orphanet:498470 Non-syndromic complex polydactyly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0034733 obsolete cochlear nerve deficiency skos:exactMatch Orphanet:502318 Cochlear nerve deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0034901 obsolete ATP13A2-related parkinsonism skos:exactMatch Orphanet:514980 ATP13A2-related parkinsonism semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0034923 obsolete inflammatory/autoimmune disorder involving the lacrimal system skos:exactMatch Orphanet:519264 Inflammatory/autoimmune disorder involving the lacrimal system semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0034926 obsolete rare disorder with entropion skos:exactMatch Orphanet:519270 Rare disorder with entropion semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0034931 obsolete rare conjunctivitis skos:exactMatch Orphanet:519280 Rare conjunctivitis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0034937 obsolete syndromic ectopia lentis skos:exactMatch Orphanet:519292 Syndromic ectopia lentis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0034943 obsolete isolated vitreoretinopathy skos:exactMatch Orphanet:519304 Isolated vitreoretinopathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0034953 obsolete syndromic inherited retinal disorder skos:exactMatch Orphanet:519325 Syndromic inherited retinal disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0034954 obsolete syndromic vitreoretinopathy skos:exactMatch Orphanet:519327 Syndromic vitreoretinopathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0034961 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature skos:exactMatch Orphanet:519341 Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0034962 obsolete rare ophthalmic disorder with cortical involvement skos:exactMatch Orphanet:519343 Rare ophthalmic disorder with cortical involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0034965 obsolete rare ophthalmic disorder with cranial nerve involvement skos:exactMatch Orphanet:519349 Rare ophthalmic disorder with cranial nerve involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0034968 obsolete rare ocular motility/alignment disorder skos:exactMatch Orphanet:519355 Rare ocular motility/alignment disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0034977 obsolete isolated microspherophakia skos:exactMatch Orphanet:519396 Isolated microspherophakia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0035001 obsolete rare disorder of the visual organs skos:exactMatch Orphanet:520814 Rare disorder of the visual organs semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0035002 obsolete isolated inherited retinal disorder skos:exactMatch Orphanet:520817 Isolated inherited retinal disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0035013 obsolete genetic primary orthostatic disorder skos:exactMatch Orphanet:521232 Genetic primary orthostatic disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0035014 obsolete primary orthostatic disorder skos:exactMatch Orphanet:521236 Primary orthostatic disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0035037 obsolete rare genetic disorder of the visual organs skos:exactMatch Orphanet:522504 Rare genetic disorder of the visual organs semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0035075 obsolete secondary early-onset glaucoma of genetic origin skos:exactMatch Orphanet:522580 Secondary early-onset glaucoma of genetic origin semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0035162 obsolete PIK3CA-related overgrowth syndrome skos:exactMatch Orphanet:530313 PIK3CA-related overgrowth syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0035274 obsolete anomaly of the coronary ostia skos:exactMatch Orphanet:542822 Anomaly of the coronary ostia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0035328 obsolete rare disorder due to poisoning skos:exactMatch Orphanet:556508 Rare disorder due to poisoning semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0035426 obsolete rare disorder potentially indicated for transplant or complication after transplantation skos:exactMatch Orphanet:565779 Rare disorder potentially indicated for transplant or complication after transplantation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0035469 obsolete primary lymphedema without systemic or visceral involvement skos:exactMatch Orphanet:568041 Primary lymphedema without systemic or visceral involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0035470 obsolete primary lymphedema with systemic or visceral involvement skos:exactMatch Orphanet:568044 Primary lymphedema with systemic or visceral involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0035471 obsolete disorder with multisystemic involvement and primary lymphedema skos:exactMatch Orphanet:568047 Disorder with multisystemic involvement and primary lymphedema semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0035561 obsolete sporadic human prion disease skos:exactMatch Orphanet:576356 Sporadic human prion disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0035645 obsolete inherited gynecological cancer-predisposing syndrome skos:exactMatch Orphanet:589746 Inherited gynecological cancer-predisposing syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0035682 obsolete fibrous dysplasia/McCune-Albright syndrome skos:exactMatch Orphanet:595216 Fibrous dysplasia/McCune-Albright syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0035684 obsolete epidermolysis bullosa simplex without extracutaneous involvement skos:exactMatch Orphanet:595346 Epidermolysis bullosa simplex without extracutaneous involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0035685 obsolete epidermolysis bullosa simplex with extracutaneous involvement skos:exactMatch Orphanet:595351 Epidermolysis bullosa simplex with extracutaneous involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0035689 obsolete syndrome of reduced sensitivity to thyroid hormone skos:exactMatch Orphanet:596426 Syndrome of reduced sensitivity to thyroid hormone semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0035786 obsolete non-syndromic cloacal malformation skos:exactMatch Orphanet:600998 Non-syndromic cloacal malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0035862 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome skos:exactMatch Orphanet:611314 Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0035863 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability skos:exactMatch Orphanet:611327 Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0035875 ivermectin toxicity skos:exactMatch Orphanet:574637 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0035876 belinostat toxicity or dose selection skos:exactMatch Orphanet:574671 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0036025 toxicity to dolutegravir skos:exactMatch Orphanet:596744 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0037716 obsolete rare genetic deafness skos:exactMatch Orphanet:96210 Rare genetic deafness semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0037860 obsolete rare systemic or rheumatologic disease skos:exactMatch Orphanet:98023 Rare systemic or rheumatologic disease semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0038261 obsolete genetic neurological channelopathy of the central nervous system skos:exactMatch Orphanet:98743 Genetic neurological channelopathy of the central nervous system semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0038268 obsolete autoimmune neurological channelopathy skos:exactMatch Orphanet:98750 Autoimmune neurological channelopathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0043005 obsolete genetic multiple congenital anomalies/dysmorphic syndrome skos:exactMatch Orphanet:183533 Genetic multiple congenital anomalies/dysmorphic syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0043008 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability skos:exactMatch Orphanet:330206 Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044636 obsolete rare hyperkinetic movement disorder skos:exactMatch Orphanet:494457 Rare hyperkinetic movement disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044655 obsolete c12orf65-related combined oxidative phosphorylation defect skos:exactMatch Orphanet:497623 C12ORF65-related combined oxidative phosphorylation defect semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0800084 obsolete primary bone dysplasia with increased bone density skos:exactMatch Orphanet:93444 Primary bone dysplasia with increased bone density semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0800087 obsolete type 11 collagen-related bone disorder skos:exactMatch Orphanet:93422 Type 11 collagen-related bone disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0800089 obsolete primary bone dysplasia with disorganized development of skeletal components skos:exactMatch Orphanet:93450 Primary bone dysplasia with disorganized development of skeletal components semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0800090 obsolete ectrodactyly with and without other manifestations skos:exactMatch Orphanet:498477 Ectrodactyly with and without other manifestations semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0800091 obsolete overgrowth or tall stature syndrome with skeletal involvement skos:exactMatch Orphanet:498448 Overgrowth or tall stature syndrome with skeletal involvement semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0800092 obsolete hereditary inflammatory or rheumatoid-like osteoarthropathy skos:exactMatch Orphanet:498445 Genetic inflammatory or rheumatoid-like osteoarthropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0800093 obsolete dysostosis with brachydactyly without extraskeletal manifestations skos:exactMatch Orphanet:498451 Dysostosis with brachydactyly without extraskeletal manifestations semapv:UnspecifiedMatching MONDO_MAPPINGS +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:0957001 obsolete hereditary mixed dermis disorder skos:exactMatch Orphanet:183481 Genetic mixed dermis disorder semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0957009 obsolete hereditary posterior fossa malformation skos:exactMatch Orphanet:269557 Genetic posterior fossa malformation semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0957024 obsolete hereditary 46,XX disorder of sex development skos:exactMatch Orphanet:325697 Genetic 46,XX difference of sex development semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0957025 obsolete hereditary 46,XY disorder of sex development skos:exactMatch Orphanet:325706 Genetic 46,XY difference of sex development 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_doid_lex.tsv b/src/ontology/lexmatch/unmapped_doid_lex.tsv index 812527df..f046e0ee 100644 --- a/src/ontology/lexmatch/unmapped_doid_lex.tsv +++ b/src/ontology/lexmatch/unmapped_doid_lex.tsv @@ -2,10 +2,14 @@ subject_id subject_label object_id predicate_id object_label mapping_justificati ID A oboInOwl:hasDbXref >A oboInOwl:source MONDO:0007495 dystonia 5 DOID:0060963 MONDO:equivalentTo dystonia, DOPA-responsive semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:128230 MONDO:0009669 spinal muscular atrophy, type 1 DOID:0060160 MONDO:equivalentTo childhood spinal muscular atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym survival motor neuron spinal muscular atrophy +MONDO:0009849 hyperimmunoglobulinemia D with periodic fever DOID:0081450 MONDO:equivalentTo hyperimmunoglobulinemia D periodic fever syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:260920 MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome DOID:0081441 MONDO:equivalentTo Nicolaides-Baraitser syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:601358 -MONDO:0015004 dystonia 28, childhood-onset DOID:0060936 MONDO:equivalentTo dystonia 28 childhood-onset semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617284 +MONDO:0011382 sickle cell anemia DOID:0081445 MONDO:equivalentTo sickle cell disease semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:603903 MONDO:0030538 dystonia 34, myoclonic DOID:0060957 MONDO:equivalentTo myoclonic dystonia 34 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619724 +MONDO:0031084 amelogenesis imperfecta, IIa 1K DOID:0060945 MONDO:equivalentTo amelogenesis imperfecta type 1K semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620104 MONDO:0032790 neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities DOID:0081443 MONDO:equivalentTo Stolerman neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618505 MONDO:0032849 neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies DOID:0070539 MONDO:equivalentTo Halperin-Birk syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618651 MONDO:0035534 DONSON-related microcephaly-short stature-limb abnormalities spectrum DOID:0081431 MONDO:equivalentTo microcephaly, short stature, and limb abnormalities semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym donson-related microcephaly-short stature-limb abnormalities spectrum +MONDO:0800029 interstitial lung disease 2 DOID:0060941 MONDO:equivalentTo interstitial lung disease 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic pulmonary fibrosis MONDO:0957385 dystonia 37, early-onset, with striatal lesions DOID:0060956 MONDO:equivalentTo dystonia 37, early-onset with striatal lesions semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620427 +MONDO:0968944 intellectual developmental disorder, autosomal recessive 82 DOID:0060947 MONDO:equivalentTo autosomal recessive intellectual developmental disorder 82 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620779 diff --git a/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv b/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv index 5680ce5c..887df763 100644 --- a/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv +++ b/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv @@ -2,6 +2,8 @@ subject_id subject_label object_id predicate_id object_label mapping_justificati ID A oboInOwl:hasDbXref >A oboInOwl:source MONDO:0007744 cholesterol-ester transfer protein deficiency DOID:0111368 MONDO:equivalentTo cholesterol-ester transfer protein deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholesterol-ester transfer protein deficiency MONDO:0009619 microcephaly-micromelia syndrome DOID:0081432 MONDO:equivalentTo microcephaly-micromelia syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:251230 +MONDO:0009681 Ullrich congenital muscular dystrophy 1A DOID:0060946 MONDO:equivalentTo Ullrich congenital muscular dystrophy 1A semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:254090 +MONDO:0011610 dimethylglycine dehydrogenase deficiency DOID:0081446 MONDO:equivalentTo dimethylglycine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:605850 MONDO:0013931 peroxisome biogenesis disorder 4B DOID:0081433 MONDO:equivalentTo Peroxisome biogenesis disorder 4B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:614863 MONDO:0013933 peroxisome biogenesis disorder 5B DOID:0081434 MONDO:equivalentTo Peroxisome biogenesis disorder 5B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:614867 MONDO:0013937 peroxisome biogenesis disorder 6B DOID:0081435 MONDO:equivalentTo Peroxisome biogenesis disorder 6B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:614871 @@ -9,15 +11,23 @@ MONDO:0013939 peroxisome biogenesis disorder 7B DOID:0081436 MONDO:equivalentTo MONDO:0013943 peroxisome biogenesis disorder 8B DOID:0081437 MONDO:equivalentTo Peroxisome biogenesis disorder 8B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:614877 MONDO:0013945 peroxisome biogenesis disorder 9B DOID:0081438 MONDO:equivalentTo Peroxisome biogenesis disorder 9B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:614879 MONDO:0013950 peroxisome biogenesis disorder 11B DOID:0081439 MONDO:equivalentTo Peroxisome biogenesis disorder 11B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:614885 +MONDO:0014654 Ullrich congenital muscular dystrophy 2 DOID:0060944 MONDO:equivalentTo Ullrich congenital muscular dystrophy 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:616470 +MONDO:0014669 cone-rod dystrophy 21 DOID:0081447 MONDO:equivalentTo cone-rod dystrophy 21 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:616502 +MONDO:0015004 dystonia 28, childhood-onset DOID:0060936 MONDO:equivalentTo dystonia 28, childhood-onset semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617284 +MONDO:0018540 PFAPA syndrome DOID:0081451 MONDO:equivalentTo PFAPA syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pfapa syndrome MONDO:0025691 dystonia 30 DOID:0060937 MONDO:equivalentTo dystonia 30 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619291 +MONDO:0030440 cone-rod dystrophy 22 DOID:0081448 MONDO:equivalentTo cone-rod dystrophy 22 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619531 MONDO:0030455 dystonia 31 DOID:0060938 MONDO:equivalentTo dystonia 31 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619565 MONDO:0030486 dystonia 32 DOID:0060939 MONDO:equivalentTo dystonia 32 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619637 MONDO:0030513 dystonia 33 DOID:0060940 MONDO:equivalentTo dystonia 33 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619687 +MONDO:0030608 interstitial lung disease 1 DOID:0060941 MONDO:equivalentTo interstitial lung disease 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619611 MONDO:0030958 dystonia 35, childhood-onset DOID:0060955 MONDO:equivalentTo dystonia 35, childhood-onset semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619921 MONDO:0054549 peroxisome biogenesis disorder 10B DOID:0081440 MONDO:equivalentTo Peroxisome biogenesis disorder 10B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617370 MONDO:0060533 microcephaly, short stature, and limb abnormalities DOID:0081431 MONDO:equivalentTo microcephaly, short stature, and limb abnormalities semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617604 MONDO:0859139 blepharophimosis-impaired intellectual development syndrome DOID:0081442 MONDO:equivalentTo blepharophimosis-impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619293 MONDO:0859377 neurodevelopmental disorder with poor growth and behavioral abnormalities DOID:0081444 MONDO:equivalentTo neurodevelopmental disorder with poor growth and behavioral abnormalities semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620242 -MONDO:0859380 episodic kinesigenic dyskinesia 3 DOID:0060944 MONDO:equivalentTo episodic kinesigenic dyskinesia 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620245 +MONDO:0957240 cone-rod dystrophy 24 DOID:0081449 MONDO:equivalentTo cone-rod dystrophy 24 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620342 MONDO:0957539 dystonia 22, juvenile-onset DOID:0060966 MONDO:equivalentTo dystonia 22, juvenile-onset semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620453 MONDO:0957542 dystonia 22, adult-onset DOID:0060967 MONDO:equivalentTo dystonia 22, adult-onset semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620456 +MONDO:0958235 Ullrich congenital muscular dystrophy 1B DOID:0060942 MONDO:equivalentTo Ullrich congenital muscular dystrophy 1B semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620727 +MONDO:0958236 Ullrich congenital muscular dystrophy 1C DOID:0060943 MONDO:equivalentTo Ullrich congenital muscular dystrophy 1C semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620728 diff --git a/src/ontology/lexmatch/unmapped_icd10cm_lex.tsv b/src/ontology/lexmatch/unmapped_icd10cm_lex.tsv index 5641ba83..85f7545f 100644 --- a/src/ontology/lexmatch/unmapped_icd10cm_lex.tsv +++ b/src/ontology/lexmatch/unmapped_icd10cm_lex.tsv @@ -557,7 +557,7 @@ MONDO:0005846 microsporidiosis ICD10CM:B60.8 MONDO:equivalentTo Other specified MONDO:0005851 Miller Fisher syndrome ICD10CM:G61.0 MONDO:equivalentTo Guillain-Barre syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym miller fisher syndrome MONDO:0005854 mixed connective tissue disease ICD10CM:M35.1 MONDO:equivalentTo Other overlap syndromes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mixed connective tissue disease MONDO:0005864 muscle cancer ICD10CM:C49 MONDO:equivalentTo Malignant neoplasm of other connective and soft tissue semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant neoplasm of muscle -MONDO:0005866 mycobacterium avium complex disease ICD10CM:A31.0 MONDO:equivalentTo Pulmonary mycobacterial infection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infection due to mycobacterium intracellulare +MONDO:0005866 Mycobacterium avium complex disease ICD10CM:A31.0 MONDO:equivalentTo Pulmonary mycobacterial infection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infection due to mycobacterium intracellulare MONDO:0005867 Mycoplasma pneumoniae pneumonia ICD10CM:J15.7 MONDO:equivalentTo Pneumonia due to Mycoplasma pneumoniae semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pneumonia due to mycoplasma pneumoniae MONDO:0005888 ornithosis ICD10CM:A70 MONDO:equivalentTo Chlamydia psittaci infections semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym psittacosis MONDO:0005888 ornithosis ICD10CM:A70 MONDO:equivalentTo Chlamydia psittaci infections semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ornithosis diff --git a/src/ontology/lexmatch/unmapped_icd11foundation_lex.tsv b/src/ontology/lexmatch/unmapped_icd11foundation_lex.tsv index a9bc9cd1..3622824e 100644 --- a/src/ontology/lexmatch/unmapped_icd11foundation_lex.tsv +++ b/src/ontology/lexmatch/unmapped_icd11foundation_lex.tsv @@ -2233,7 +2233,7 @@ MONDO:0005850 milker's nodule icd11.foundation:1404858629 MONDO:equivalentTo Par MONDO:0005850 milker's nodule icd11.foundation:1404858629 MONDO:equivalentTo Paravaccinia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym milker's nodule MONDO:0005858 mucinous cystadenocarcinoma icd11.foundation:1886142270 MONDO:equivalentTo Mucinous cystadenocarcinoma, NOS semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pseudomucinous adenocarcinoma MONDO:0005864 muscle cancer icd11.foundation:1165461867 MONDO:equivalentTo Myosarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myosarcoma -MONDO:0005866 mycobacterium avium complex disease icd11.foundation:2082736978 MONDO:equivalentTo Pulmonary infection due to Mycobacterium avium-intracellulare complex semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infection due to mycobacterium intracellulare +MONDO:0005866 Mycobacterium avium complex disease icd11.foundation:2082736978 MONDO:equivalentTo Pulmonary infection due to Mycobacterium avium-intracellulare complex semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infection due to mycobacterium intracellulare MONDO:0005867 Mycoplasma pneumoniae pneumonia icd11.foundation:963399569 MONDO:equivalentTo Pneumonia due to Mycoplasma pneumoniae semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mycoplasmal pneumonia MONDO:0005867 Mycoplasma pneumoniae pneumonia icd11.foundation:963399569 MONDO:equivalentTo Pneumonia due to Mycoplasma pneumoniae semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pneumonia due to mycoplasma pneumoniae MONDO:0005875 Newcastle disease icd11.foundation:539699728 MONDO:equivalentTo Newcastle conjunctivitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pseudo-fowlpest @@ -4831,7 +4831,7 @@ MONDO:0017799 Meigs syndrome icd11.foundation:1050919535 MONDO:equivalentTo Meig MONDO:0017815 acquired porencephaly icd11.foundation:39546655 MONDO:equivalentTo Porencephalic cyst semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acquired porencephaly MONDO:0017815 acquired porencephaly icd11.foundation:39546655 MONDO:equivalentTo Porencephalic cyst semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acquired porencephaly MONDO:0017827 malignant peripheral nerve sheath tumor icd11.foundation:1196147098 MONDO:equivalentTo Malignant peripheral nerve sheath tumour semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neurogenic sarcoma -MONDO:0017832 mycobacterium xenopi infection icd11.foundation:1959568836 MONDO:equivalentTo Pulmonary infection due to Mycobacterium xenopi semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mycobacterium xenopi infection +MONDO:0017832 Mycobacterium xenopi infection icd11.foundation:1959568836 MONDO:equivalentTo Pulmonary infection due to Mycobacterium xenopi semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mycobacterium xenopi infection MONDO:0017836 erythrokeratoderma en cocardes icd11.foundation:792094526 MONDO:equivalentTo Malignant atrophic papulosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym erythrokeratoderma en cocardes MONDO:0017843 congenital pulmonary sequestration icd11.foundation:1833083626 MONDO:equivalentTo Congenital sequestration of lung semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital sequestration of lung MONDO:0017843 congenital pulmonary sequestration icd11.foundation:1833083626 MONDO:equivalentTo Congenital sequestration of lung semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital pulmonary sequestration diff --git a/src/ontology/lexmatch/unmapped_icd11foundation_lex_exact.tsv b/src/ontology/lexmatch/unmapped_icd11foundation_lex_exact.tsv index 37c611ae..e26b46b5 100644 --- a/src/ontology/lexmatch/unmapped_icd11foundation_lex_exact.tsv +++ b/src/ontology/lexmatch/unmapped_icd11foundation_lex_exact.tsv @@ -3676,5 +3676,6 @@ MONDO:0957452 segmental arterial mediolysis icd11.foundation:1160127418 MONDO:eq MONDO:0958076 myeloschisis icd11.foundation:1547705800 MONDO:equivalentTo Myeloschisis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myeloschisis MONDO:0958083 conjoined twins icd11.foundation:1550169484 MONDO:equivalentTo Conjoined twins semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label conjoined twins MONDO:0958096 monomorphic epitheliotropic intestinal T-cell lymphoma icd11.foundation:824243127 MONDO:equivalentTo Monomorphic epitheliotropic intestinal T-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monomorphic epitheliotropic intestinal t-cell lymphoma +MONDO:0968955 hypocalcified amelogenesis imperfecta icd11.foundation:1793262466 MONDO:equivalentTo Hypocalcified amelogenesis imperfecta semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypocalcified amelogenesis imperfecta MONDO:1010000 pythiosis icd11.foundation:1571230529 MONDO:equivalentTo Pythiosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pythiosis MONDO:8000010 antiphospholipid syndrome icd11.foundation:1173370808 MONDO:equivalentTo Antiphospholipid syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label antiphospholipid syndrome diff --git a/src/ontology/lexmatch/unmapped_omim_lex.tsv b/src/ontology/lexmatch/unmapped_omim_lex.tsv index 3f4e81ac..67c255c1 100644 --- a/src/ontology/lexmatch/unmapped_omim_lex.tsv +++ b/src/ontology/lexmatch/unmapped_omim_lex.tsv @@ -1,6 +1,2 @@ subject_id subject_label object_id predicate_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string ID A oboInOwl:hasDbXref >A oboInOwl:source -MONDO:0007029 branchio-oto-renal syndrome OMIMPS:113650 MONDO:equivalentTo Branchiootorenal syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label branchiootorenal syndrome -MONDO:0010425 Lisch epithelial corneal dystrophy OMIM:620763 MONDO:equivalentTo corneal dystrophy, lisch epithelial semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lisch epithelial corneal dystrophy -MONDO:0010425 Lisch epithelial corneal dystrophy OMIM:620763 MONDO:equivalentTo corneal dystrophy, lisch epithelial semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lisch epithelial corneal dystrophy -MONDO:0020728 hypouricemia, renal 1 OMIMPS:220150 MONDO:equivalentTo Hypouricemia, renal semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypouricemia, renal diff --git a/src/ontology/lexmatch/unmapped_omim_lex_exact.tsv b/src/ontology/lexmatch/unmapped_omim_lex_exact.tsv index 93dec881..b83c417f 100644 --- a/src/ontology/lexmatch/unmapped_omim_lex_exact.tsv +++ b/src/ontology/lexmatch/unmapped_omim_lex_exact.tsv @@ -1,5 +1,4 @@ subject_id subject_label object_id predicate_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string ID A oboInOwl:hasDbXref >A oboInOwl:source -MONDO:0017195 Bruck syndrome OMIMPS:259450 MONDO:equivalentTo Bruck syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bruck syndrome +MONDO:0015991 citrullinemia OMIMPS:215700 MONDO:equivalentTo Citrullinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label citrullinemia MONDO:0018875 Li-Fraumeni syndrome OMIMPS:151623 MONDO:equivalentTo Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label li-fraumeni syndrome -MONDO:0018878 branchiootic syndrome OMIMPS:602588 MONDO:equivalentTo Branchiootic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label branchiootic syndrome diff --git a/src/ontology/lexmatch/unmapped_ordo_lex.tsv b/src/ontology/lexmatch/unmapped_ordo_lex.tsv index 8ce530b1..67c255c1 100644 --- a/src/ontology/lexmatch/unmapped_ordo_lex.tsv +++ b/src/ontology/lexmatch/unmapped_ordo_lex.tsv @@ -1,5 +1,2 @@ subject_id subject_label object_id predicate_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string ID A oboInOwl:hasDbXref >A oboInOwl:source -MONDO:0002013 lymphangioma Orphanet:2415 MONDO:equivalentTo Rare lymphatic malformation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lymphangioma -MONDO:0002013 lymphangioma Orphanet:2415 MONDO:equivalentTo Rare lymphatic malformation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lymphangioma -MONDO:0013626 psoriasis 14, pustular Orphanet:163931 MONDO:equivalentTo Acrodermatitis continua of Hallopeau semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acrodermatitis continua of hallopeau diff --git a/src/ontology/lexmatch/unmapped_ordo_lex_exact.tsv b/src/ontology/lexmatch/unmapped_ordo_lex_exact.tsv index 69d33d44..67c255c1 100644 --- a/src/ontology/lexmatch/unmapped_ordo_lex_exact.tsv +++ b/src/ontology/lexmatch/unmapped_ordo_lex_exact.tsv @@ -1,3 +1,2 @@ subject_id subject_label object_id predicate_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string ID A oboInOwl:hasDbXref >A oboInOwl:source -MONDO:0100491 generalized pustular psoriasis Orphanet:247353 MONDO:equivalentTo Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label generalized pustular psoriasis diff --git a/src/ontology/metadata/doid-metrics.json b/src/ontology/metadata/doid-metrics.json index d65431e9..8e024eaa 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": 27, "annotation_property_count_incl": 27, - "axiom_count": 115826, - "axiom_count_incl": 115826, - "class_count": 13084, - "class_count_incl": 13084, + "axiom_count": 115964, + "axiom_count_incl": 115964, + "class_count": 13099, + "class_count_incl": 13099, "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": 16084, - "logical_axiom_count_incl": 16084, + "logical_axiom_count": 16110, + "logical_axiom_count_incl": 16110, "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/2024-04-19/doid.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-05-01/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": 13115, - "signature_entity_count_incl": 13115, + "signature_entity_count": 13130, + "signature_entity_count_incl": 13130, "syntax": "RDF/XML Syntax", - "tbox_axiom_count": 16084, - "tbox_axiom_count_incl": 16084, - "tboxrbox_axiom_count": 16084, - "tboxrbox_axiom_count_incl": 16084, + "tbox_axiom_count": 16110, + "tbox_axiom_count_incl": 16110, + "tboxrbox_axiom_count": 16110, + "tboxrbox_axiom_count_incl": 16110, "axiom_types": [ "AnnotationAssertion", "SubAnnotationPropertyOf", @@ -67,24 +67,24 @@ "valid_imports": [], "valid_imports_incl": [], "axiom_type_count": { - "AnnotationAssertion": 86629, + "AnnotationAssertion": 86726, "SubAnnotationPropertyOf": 1, "DisjointClasses": 26, - "Declaration": 13112, - "SubClassOf": 16058 + "Declaration": 13127, + "SubClassOf": 16084 }, "axiom_type_count_incl": { - "AnnotationAssertion": 86629, + "AnnotationAssertion": 86726, "SubAnnotationPropertyOf": 1, "DisjointClasses": 26, - "Declaration": 13112, - "SubClassOf": 16058 + "Declaration": 13127, + "SubClassOf": 16084 }, "class_expression_count": { - "Class": 45412 + "Class": 45479 }, "class_expression_count_incl": { - "Class": 45412 + "Class": 45479 }, "curie_map": { "oboInOwl": "http://www.geneontology.org/formats/oboInOwl#", @@ -111,21 +111,21 @@ "dc": "http://purl.org/dc/terms/" }, "namespace_axiom_count": { - "oboInOwl": 57584, - "owl": 2483, - "DOID": 43867, + "oboInOwl": 57633, + "owl": 2484, + "DOID": 43932, "HP": 118, - "skos": 5895, - "CL": 61, - "rdfs": 19743, + "skos": 5906, + "CL": 63, + "rdfs": 19758, "BFO": 2, "FOODON": 24, "NCBITaxon": 322, "TRANS": 13, "SYMP": 306, "dc11": 2, - "rdf": 60, - "IAO": 2183, + "rdf": 61, + "IAO": 2205, "CHEBI": 90, "UBERON": 394, "SO": 17, @@ -134,21 +134,21 @@ "dc": 1 }, "namespace_axiom_count_incl": { - "oboInOwl": 57584, - "owl": 2483, - "DOID": 43867, + "oboInOwl": 57633, + "owl": 2484, + "DOID": 43932, "HP": 118, - "skos": 5895, - "CL": 61, - "rdfs": 19743, + "skos": 5906, + "CL": 63, + "rdfs": 19758, "BFO": 2, "FOODON": 24, "NCBITaxon": 322, "TRANS": 13, "SYMP": 306, "dc11": 2, - "rdf": 60, - "IAO": 2183, + "rdf": 61, + "IAO": 2205, "CHEBI": 90, "UBERON": 394, "SO": 17, @@ -159,10 +159,10 @@ "namespace_entity_count": { "oboInOwl": 12, "owl": 2, - "DOID": 11539, + "DOID": 11552, "HP": 118, "xsd": 1, - "CL": 61, + "CL": 63, "skos": 5, "BFO": 2, "rdfs": 2, @@ -183,10 +183,10 @@ "namespace_entity_count_incl": { "oboInOwl": 12, "owl": 2, - "DOID": 11539, + "DOID": 11552, "HP": 118, "xsd": 1, - "CL": 61, + "CL": 63, "skos": 5, "BFO": 2, "rdfs": 2, diff --git a/src/ontology/metadata/gard-metrics.json b/src/ontology/metadata/gard-metrics.json index 02a6f2a0..9e6c51c2 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/2024-04-19/gard.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-05-01/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 7b0c9b73..7592d6af 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/2024-04-19/icd10cm.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-05-01/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 3b66280c..7469f026 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/2024-04-19/icd10who.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-05-01/icd10who.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/icd11foundation-metrics.json b/src/ontology/metadata/icd11foundation-metrics.json index 812fd86f..9f1db3b9 100644 --- a/src/ontology/metadata/icd11foundation-metrics.json +++ b/src/ontology/metadata/icd11foundation-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 5, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/icd11foundation.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-04-19/icd11foundation.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-05-01/icd11foundation.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 07fc0e98..8ec6a7be 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/2024-04-19/ncit.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-05-01/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 eee41121..aa5828d9 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": 18, "annotation_property_count_incl": 18, - "axiom_count": 345408, - "axiom_count_incl": 345408, - "class_count": 19465, - "class_count_incl": 19465, + "axiom_count": 345588, + "axiom_count_incl": 345588, + "class_count": 19482, + "class_count_incl": 19482, "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": 22664, - "logical_axiom_count_incl": 22664, + "logical_axiom_count": 22689, + "logical_axiom_count_incl": 22689, "obj_property_count": 7, "obj_property_count_incl": 7, "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/2024-04-19/omim.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-05-01/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": 19492, - "signature_entity_count_incl": 19492, + "signature_entity_count": 19509, + "signature_entity_count_incl": 19509, "syntax": "RDF/XML Syntax", - "tbox_axiom_count": 22664, - "tbox_axiom_count_incl": 22664, - "tboxrbox_axiom_count": 22664, - "tboxrbox_axiom_count_incl": 22664, + "tbox_axiom_count": 22689, + "tbox_axiom_count_incl": 22689, + "tboxrbox_axiom_count": 22689, + "tboxrbox_axiom_count_incl": 22689, "axiom_types": [ "AnnotationAssertion", "SubAnnotationPropertyOf", @@ -65,24 +65,24 @@ "valid_imports": [], "valid_imports_incl": [], "axiom_type_count": { - "AnnotationAssertion": 303257, + "AnnotationAssertion": 303395, "SubAnnotationPropertyOf": 1, - "Declaration": 19486, - "SubClassOf": 22664 + "Declaration": 19503, + "SubClassOf": 22689 }, "axiom_type_count_incl": { - "AnnotationAssertion": 303257, + "AnnotationAssertion": 303395, "SubAnnotationPropertyOf": 1, - "Declaration": 19486, - "SubClassOf": 22664 + "Declaration": 19503, + "SubClassOf": 22689 }, "class_expression_count": { - "Class": 64785, - "ObjectSomeValuesFrom": 17773 + "Class": 64850, + "ObjectSomeValuesFrom": 17792 }, "class_expression_count_incl": { - "Class": 64785, - "ObjectSomeValuesFrom": 17773 + "Class": 64850, + "ObjectSomeValuesFrom": 17792 }, "curie_map": { "oboInOwl": "http://www.geneontology.org/formats/oboInOwl#", @@ -99,41 +99,41 @@ "obo": "http://purl.obolibrary.org/obo/" }, "namespace_axiom_count": { - "prefix_unknown": 87595, - "oboInOwl": 91411, - "MONDO": 19007, - "rdf": 20935, + "prefix_unknown": 87651, + "oboInOwl": 91485, + "MONDO": 19018, + "rdf": 20948, "owl": 1362, "IAO": 55204, - "skos": 80837, - "rdfs": 39957, - "biolink": 36776, - "CHR": 7569, - "RO": 17780, + "skos": 80849, + "rdfs": 39991, + "biolink": 36809, + "CHR": 7578, + "RO": 17799, "obo": 2 }, "namespace_axiom_count_incl": { - "prefix_unknown": 87595, - "oboInOwl": 91411, - "MONDO": 19007, - "rdf": 20935, + "prefix_unknown": 87651, + "oboInOwl": 91485, + "MONDO": 19018, + "rdf": 20948, "owl": 1362, "IAO": 55204, - "skos": 80837, - "rdfs": 39957, - "biolink": 36776, - "CHR": 7569, - "RO": 17780, + "skos": 80849, + "rdfs": 39991, + "biolink": 36809, + "CHR": 7578, + "RO": 17799, "obo": 2 }, "namespace_entity_count": { - "prefix_unknown": 18022, + "prefix_unknown": 18036, "oboInOwl": 4, "owl": 2, "xsd": 1, "skos": 1, "rdfs": 2, - "CHR": 1446, + "CHR": 1449, "MONDO": 1, "rdf": 1, "IAO": 2, @@ -142,13 +142,13 @@ "obo": 1 }, "namespace_entity_count_incl": { - "prefix_unknown": 18022, + "prefix_unknown": 18036, "oboInOwl": 4, "owl": 2, "xsd": 1, "skos": 1, "rdfs": 2, - "CHR": 1446, + "CHR": 1449, "MONDO": 1, "rdf": 1, "IAO": 2, diff --git a/src/ontology/metadata/ordo-metrics.json b/src/ontology/metadata/ordo-metrics.json index 3ee26e0b..b0850886 100644 --- a/src/ontology/metadata/ordo-metrics.json +++ b/src/ontology/metadata/ordo-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 4, "ontology_anno_count": 12, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/ordo.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-04-19/ordo.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-05-01/ordo.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/reports/component_signature-doid.tsv b/src/ontology/reports/component_signature-doid.tsv index d3c36b4d..994e2d77 100644 --- a/src/ontology/reports/component_signature-doid.tsv +++ b/src/ontology/reports/component_signature-doid.tsv @@ -120,6 +120,7 @@ + @@ -141,6 +142,7 @@ + @@ -1723,7 +1725,13 @@ + + + + + + @@ -3629,6 +3637,14 @@ + + + + + + + + @@ -7207,7 +7223,6 @@ - diff --git a/src/ontology/reports/component_signature-omim.tsv b/src/ontology/reports/component_signature-omim.tsv index 860b7f0b..ab308e93 100644 --- a/src/ontology/reports/component_signature-omim.tsv +++ b/src/ontology/reports/component_signature-omim.tsv @@ -486,6 +486,7 @@ + @@ -594,6 +595,7 @@ + @@ -1259,6 +1261,7 @@ + @@ -8382,6 +8385,7 @@ + @@ -8680,7 +8684,6 @@ - @@ -11122,6 +11125,7 @@ + @@ -12827,6 +12831,7 @@ + @@ -12894,6 +12899,7 @@ + @@ -14195,6 +14201,7 @@ + @@ -15439,6 +15446,7 @@ + @@ -17830,6 +17838,14 @@ + + + + + + + + @@ -18084,6 +18100,7 @@ + diff --git a/src/ontology/reports/doid.subclass.added-obsolete.robot.tsv b/src/ontology/reports/doid.subclass.added-obsolete.robot.tsv index 4ff6a679..6f6cb3c5 100644 --- a/src/ontology/reports/doid.subclass.added-obsolete.robot.tsv +++ b/src/ontology/reports/doid.subclass.added-obsolete.robot.tsv @@ -266,7 +266,6 @@ MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy MONDO:000 MONDO:0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy MONDO:0000839 DOID:0060769 DOID:0080015 obsolete congenital abnormality MONDO:0011325 Fanconi anemia complementation group F MONDO:0000275 DOID:0111088 DOID:0050177 obsolete monogenic disease MONDO:0011331 congenital chylothorax MONDO:0000839 DOID:0060646 DOID:0080015 obsolete congenital abnormality -MONDO:0011382 sickle cell anemia MONDO:0003804 DOID:10923 DOID:620 obsolete blood protein disease MONDO:0011385 intervertebral disk degenerative disorder MONDO:0000834 DOID:90 DOID:0080007 obsolete bone deterioration disease MONDO:0011400 dilated cardiomyopathy 1G MONDO:0000275 DOID:0110430 DOID:0050177 obsolete monogenic disease MONDO:0011415 Leber congenital amaurosis 3 MONDO:0000275 DOID:0110331 DOID:0050177 obsolete monogenic disease diff --git a/src/ontology/reports/doid.subclass.added.robot.tsv b/src/ontology/reports/doid.subclass.added.robot.tsv index 3f8401f6..c4439170 100644 --- a/src/ontology/reports/doid.subclass.added.robot.tsv +++ b/src/ontology/reports/doid.subclass.added.robot.tsv @@ -82,7 +82,7 @@ MONDO:0000933 subglottis neoplasm MONDO:0002354 DOID:10069 DOID:2598 benign lary MONDO:0000949 conjunctival degeneration MONDO:0004884 DOID:10139 DOID:9799 eye degenerative disorder MONDO:0000959 malignant hypertensive renal disease MONDO:0001105 DOID:10177 DOID:1073 renal hypertension MONDO:0000973 external ear lipoma MONDO:0850152 DOID:10203 DOID:0080619 auditory system benign neoplasm -MONDO:0000984 thalassemia MONDO:0003664 DOID:10241 DOID:583 hemolytic anemia +MONDO:0000984 thalassemia MONDO:0001245 DOID:10241 DOID:11252 microcytic anemia MONDO:0000984 thalassemia MONDO:0006025 DOID:10241 DOID:0050737 autosomal recessive disease MONDO:0000989 mumps infectious disease MONDO:0001142 DOID:10264 DOID:10854 salivary gland disorder MONDO:0000989 mumps infectious disease MONDO:0005791 DOID:10264 DOID:10883 herpangina @@ -154,10 +154,11 @@ MONDO:0001606 central nervous system leukemia MONDO:0002714 DOID:12969 DOID:3620 MONDO:0001608 vagus nerve neoplasm MONDO:0002433 DOID:12984 DOID:2815 malignant cranial nerve neoplasm MONDO:0001613 vertebrobasilar insufficiency MONDO:0005264 DOID:13003 DOID:224 transient ischemic attack MONDO:0001614 intra-abdominal lymph node mast cell malignancy MONDO:0002724 DOID:13005 DOID:3664 mast cell neoplasm +MONDO:0001638 protein-deficiency anemia MONDO:0006873 DOID:13120 DOID:5113 nutritional deficiency disease MONDO:0001698 tinea profunda MONDO:0001461 DOID:13368 DOID:12179 tinea corporis MONDO:0001701 gastrointestinal anthrax MONDO:0004335 DOID:13386 DOID:77 digestive system disorder MONDO:0001704 vaginal glandular neoplasm MONDO:0001402 DOID:134 DOID:119 vaginal cancer -MONDO:0001705 pure red-cell aplasia MONDO:0015909 DOID:1340 DOID:12449 aplastic anemia +MONDO:0001705 pure red-cell aplasia MONDO:0001713 DOID:1340 DOID:1342 inherited aplastic anemia MONDO:0001743 paranasal sinus lymphoma MONDO:0000380 DOID:1355 DOID:0050619 paranasal sinus carcinoma MONDO:0001754 eclampsia MONDO:0005081 DOID:13593 DOID:10591 preeclampsia MONDO:0001780 premature ejaculation MONDO:0000947 DOID:13709 DOID:10132 psychosexual disorder @@ -172,6 +173,7 @@ MONDO:0001832 bacterial esophagitis MONDO:0005113 DOID:13921 DOID:104 bacterial MONDO:0001834 visual pathway disorder MONDO:0005328 DOID:1393 DOID:5614 eye disorder MONDO:0001835 facial paralysis MONDO:0002098 DOID:13934 DOID:1756 facial nerve disorder MONDO:0001848 Morgagni cataract MONDO:0004847 DOID:13964 DOID:9669 senile cataract +MONDO:0001860 folic acid deficiency anemia MONDO:0002280 DOID:14026 DOID:2355 anemia MONDO:0001867 phaeohyphomycosis MONDO:0000308 DOID:14049 DOID:0050292 primary systemic mycosis MONDO:0001884 abducens nerve neoplasm MONDO:0002433 DOID:14125 DOID:2815 malignant cranial nerve neoplasm MONDO:0001916 gastrointestinal tularemia MONDO:0004335 DOID:14239 DOID:77 digestive system disorder @@ -546,6 +548,7 @@ MONDO:0004528 lymph node palisaded myofibroblastoma MONDO:0021443 DOID:8304 DOID MONDO:0004529 non-ossifying fibromyxoid tumor MONDO:0002616 DOID:8305 DOID:3350 mesenchymal cell neoplasm MONDO:0004533 perineural angioma MONDO:0000628 DOID:8331 DOID:0060090 central nervous system organ benign neoplasm MONDO:0004572 cyclothymic disorder MONDO:0004985 DOID:845 DOID:3312 bipolar disorder +MONDO:0004574 pyridoxine deficiency anemia MONDO:0002280 DOID:8455 DOID:2355 anemia MONDO:0004580 retinal degeneration MONDO:0004884 DOID:8466 DOID:9799 eye degenerative disorder MONDO:0004582 rheumatic myocarditis MONDO:0005113 DOID:8481 DOID:104 bacterial infectious disease MONDO:0004585 polyhydramnios MONDO:0005917 DOID:8488 DOID:780 placenta disorder @@ -1065,6 +1068,7 @@ MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome MONDO:0016063 DOID:0050657 DOID: MONDO:0007938 46,XY sex reversal 4 MONDO:0000761 DOID:0111771 DOID:0060388 syndrome caused by partial chromosomal deletion MONDO:0007947 Marfan syndrome MONDO:0005328 DOID:14323 DOID:5614 eye disorder MONDO:0007947 Marfan syndrome MONDO:0005561 DOID:14323 DOID:520 aortic disorder +MONDO:0007958 familial medullary thyroid carcinoma MONDO:0000426 DOID:0050547 DOID:0050736 autosomal dominant disease MONDO:0007959 medulloblastoma MONDO:0003107 DOID:0050902 DOID:4706 infratentorial cancer MONDO:0007967 melanoma and neural system tumor syndrome MONDO:0000426 DOID:0111511 DOID:0050736 autosomal dominant disease MONDO:0007974 intellectual disability, autosomal dominant 1 MONDO:0015802 DOID:0070031 DOID:0060307 autosomal dominant non-syndromic intellectual disability @@ -2084,6 +2088,7 @@ MONDO:0011366 ovarian germ cell tumor MONDO:0008170 DOID:2156 DOID:2394 ovarian MONDO:0011374 hypercholesterolemia, familial, 4 MONDO:0005439 DOID:0090105 DOID:13810 familial hypercholesterolemia MONDO:0011377 long QT syndrome 3 MONDO:0000426 DOID:0110646 DOID:0050736 autosomal dominant disease MONDO:0011381 dominant beta-thalassemia MONDO:0000426 DOID:0080770 DOID:0050736 autosomal dominant disease +MONDO:0011382 sickle cell anemia MONDO:0002280 DOID:10923 DOID:2355 anemia MONDO:0011383 autoimmune lymphoproliferative syndrome type 2A MONDO:0000426 DOID:0110115 DOID:0050736 autosomal dominant disease MONDO:0011387 psoriasis 4, susceptibility to MONDO:0005083 DOID:0111280 DOID:8893 psoriasis MONDO:0011390 focal segmental glomerulosclerosis 2 MONDO:0000426 DOID:0111129 DOID:0050736 autosomal dominant disease @@ -3309,7 +3314,7 @@ MONDO:0015131 combined immunodeficiency MONDO:0015131 DOID:628 DOID:0111962 comb MONDO:0015148 lissencephaly type 3 MONDO:0000426 DOID:0112232 DOID:0050736 autosomal dominant disease MONDO:0015168 arthrogryposis multiplex congenita MONDO:0005071 DOID:0080954 DOID:863 nervous system disorder MONDO:0015168 arthrogryposis multiplex congenita MONDO:0006025 DOID:0080954 DOID:0050737 autosomal recessive disease -MONDO:0015194 sideroblastic anemia MONDO:0015909 DOID:8955 DOID:12449 aplastic anemia +MONDO:0015194 sideroblastic anemia MONDO:0001245 DOID:8955 DOID:11252 microcytic anemia MONDO:0015265 bronchiolitis obliterans syndrome MONDO:0001358 DOID:2799 DOID:1176 bronchial disorder MONDO:0015274 chronic beryllium disease MONDO:0000771 DOID:10322 DOID:0060496 allergic respiratory disease MONDO:0015279 chronic mucocutaneous candidiasis MONDO:0002026 DOID:2058 DOID:1508 candidiasis @@ -3347,6 +3352,7 @@ MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis MONDO:0001969 DOID:0080656 DOI MONDO:0015790 central diabetes insipidus MONDO:0004782 DOID:0081055 DOID:9409 diabetes insipidus MONDO:0015798 inflammatory myofibroblastic tumor MONDO:0002616 DOID:0050905 DOID:3350 mesenchymal cell neoplasm MONDO:0015799 Smith-McCort dysplasia MONDO:0009130 DOID:0060247 DOID:0111167 Dyggve-Melchior-Clausen disease +MONDO:0015909 aplastic anemia MONDO:0004139 DOID:12449 DOID:720 normocytic anemia MONDO:0015925 interstitial lung disease MONDO:0003900 DOID:3082 DOID:65 connective tissue disorder MONDO:0015999 primary pigmented nodular adrenocortical disease MONDO:0002816 DOID:0060280 DOID:3952 adrenal cortex disorder MONDO:0016001 2-hydroxyglutaric aciduria MONDO:0004736 DOID:0050573 DOID:9252 inborn disorder of amino acid metabolism @@ -3669,7 +3675,6 @@ MONDO:0023664 spermatogenic failure 54 MONDO:0006025 DOID:0112335 DOID:0050737 a MONDO:0023671 oculopharyngodistal myopathy 3 MONDO:0000426 DOID:0081299 DOID:0050736 autosomal dominant disease MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 MONDO:0000426 DOID:0070124 DOID:0050736 autosomal dominant disease MONDO:0024299 vitamin D-dependent rickets MONDO:0005497 DOID:0080883 DOID:0080006 bone development disease -MONDO:0024299 vitamin D-dependent rickets MONDO:0005570 DOID:0080883 DOID:74 hematologic disorder MONDO:0024306 acquired lactic acidosis MONDO:0000440 DOID:3650 DOID:0050758 metabolic acidosis MONDO:0024309 neuropathy, hereditary sensory and autonomic, type 2A MONDO:0006025 DOID:0070155 DOID:0050737 autosomal recessive disease MONDO:0024323 glomangiomyoma MONDO:0003342 DOID:8020 DOID:5238 benign perivascular tumor @@ -4269,6 +4274,7 @@ MONDO:0700251 orofacial cleft 7 MONDO:0006025 DOID:0080400 DOID:0050737 autosoma MONDO:0800025 Teebi hypertelorism syndrome 1 MONDO:0000426 DOID:0080698 DOID:0050736 autosomal dominant disease MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease MONDO:0000426 DOID:0060731 DOID:0050736 autosomal dominant disease MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 MONDO:0000426 DOID:0080523 DOID:0050736 autosomal dominant disease +MONDO:0800029 interstitial lung disease 2 MONDO:0000426 DOID:0050156 DOID:0050736 autosomal dominant disease MONDO:0800042 restrictive dermopathy 1 MONDO:0006025 DOID:0070369 DOID:0050737 autosomal recessive disease MONDO:0800044 congenital disorder of deglycosylation 1 MONDO:0006025 DOID:0060728 DOID:0050737 autosomal recessive disease MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 MONDO:0000426 DOID:0080944 DOID:0050736 autosomal dominant disease diff --git a/src/ontology/reports/doid.subclass.confirmed.robot.tsv b/src/ontology/reports/doid.subclass.confirmed.robot.tsv index 86d9291c..13c9af6a 100644 --- a/src/ontology/reports/doid.subclass.confirmed.robot.tsv +++ b/src/ontology/reports/doid.subclass.confirmed.robot.tsv @@ -668,7 +668,6 @@ MONDO:0001345 antidepressant type abuse MONDO:0002491 DOID:11718 DOID:302 substa MONDO:0001349 odontoclasia MONDO:0005276 DOID:11736 DOID:216 dental caries MONDO:0001351 uterine adnexa cancer MONDO:0002715 DOID:11747 DOID:363 uterine cancer MONDO:0001352 round ligament malignant neoplasm MONDO:0001351 DOID:11748 DOID:11747 uterine adnexa cancer -MONDO:0001356 iron deficiency anemia MONDO:0006873 DOID:11758 DOID:5113 nutritional deficiency disease MONDO:0001357 hypochromic anemia MONDO:0002280 DOID:11759 DOID:2355 anemia MONDO:0001358 bronchial disorder MONDO:0000270 DOID:1176 DOID:0050161 lower respiratory tract disorder MONDO:0001360 blind hypotensive eye MONDO:0004390 DOID:11766 DOID:790 ocular hypotension @@ -906,8 +905,6 @@ MONDO:0001634 bladder leiomyoma MONDO:0001572 DOID:13109 DOID:127 leiomyoma MONDO:0001635 bladder squamous papilloma MONDO:0000384 DOID:13110 DOID:0050623 bladder benign neoplasm MONDO:0001636 mechanical entropion MONDO:0001519 DOID:13112 DOID:12397 entropion MONDO:0001637 cicatricial entropion MONDO:0001519 DOID:13113 DOID:12397 entropion -MONDO:0001638 protein-deficiency anemia MONDO:0001639 DOID:13120 DOID:13121 deficiency anemia -MONDO:0001639 deficiency anemia MONDO:0002280 DOID:13121 DOID:2355 anemia MONDO:0001640 gonococcal spondylitis MONDO:0003937 DOID:13127 DOID:6590 spondylitis MONDO:0001641 severe pre-eclampsia MONDO:0005081 DOID:13129 DOID:10591 preeclampsia MONDO:0001643 exophthalmic ophthalmoplegia MONDO:0003425 DOID:13135 DOID:539 ophthalmoplegia @@ -1419,7 +1416,6 @@ MONDO:0002329 testicular disorder MONDO:0003150 DOID:2519 DOID:48 male reproduct MONDO:0002330 alcoholic psychosis MONDO:0002326 DOID:252 DOID:251 alcohol-induced mental disorder MONDO:0002332 splenic disorder MONDO:0005833 DOID:2529 DOID:75 lymphatic system disorder MONDO:0002333 splenic abscess MONDO:0002332 DOID:2530 DOID:2529 splenic disorder -MONDO:0002334 hematopoietic and lymphoid system neoplasm MONDO:0005570 DOID:2531 DOID:74 hematologic disorder MONDO:0002337 intra-abdominal hemangioma MONDO:0006500 DOID:254 DOID:255 hemangioma MONDO:0002338 extratemporal epilepsy MONDO:0005027 DOID:2544 DOID:1826 epilepsy MONDO:0002340 tactile epilepsy MONDO:0017768 DOID:2550 DOID:2548 reflex epilepsy @@ -3637,7 +3633,7 @@ MONDO:0005858 mucinous cystadenocarcinoma MONDO:0005596 DOID:3603 DOID:3111 cyst MONDO:0005859 mucocutaneous leishmaniasis MONDO:0011989 DOID:9155 DOID:9065 leishmaniasis MONDO:0005864 muscle cancer MONDO:0000637 DOID:4045 DOID:0060100 musculoskeletal system cancer MONDO:0005865 mushroom workers' lung MONDO:0017853 DOID:2708 DOID:841 hypersensitivity pneumonitis -MONDO:0005866 mycobacterium avium complex disease MONDO:0000314 DOID:2755 DOID:0050338 primary bacterial infectious disease +MONDO:0005866 Mycobacterium avium complex disease MONDO:0000314 DOID:2755 DOID:0050338 primary bacterial infectious disease MONDO:0005867 Mycoplasma pneumoniae pneumonia MONDO:0004652 DOID:13276 DOID:874 bacterial pneumonia MONDO:0005870 necatoriasis MONDO:0004664 DOID:2790 DOID:883 helminthiasis MONDO:0005872 nervous system cancer MONDO:0004992 DOID:3093 DOID:0050686 cancer @@ -6738,7 +6734,7 @@ MONDO:0015240 digitotalar dysmorphism MONDO:0019942 DOID:0111596 DOID:0050646 di MONDO:0015243 allergic bronchopulmonary aspergillosis MONDO:0000771 DOID:13166 DOID:0060496 allergic respiratory disease MONDO:0015243 allergic bronchopulmonary aspergillosis MONDO:0005657 DOID:13166 DOID:13564 aspergillosis MONDO:0015244 autosomal recessive cerebellar ataxia MONDO:0006025 DOID:0050950 DOID:0050737 autosomal recessive disease -MONDO:0015253 Diamond-Blackfan anemia MONDO:0001713 DOID:1339 DOID:1342 inherited aplastic anemia +MONDO:0015253 Diamond-Blackfan anemia MONDO:0001705 DOID:1339 DOID:1340 pure red-cell aplasia MONDO:0015254 schistosomiasis MONDO:0004664 DOID:1395 DOID:883 helminthiasis MONDO:0015262 brachyolmia MONDO:0005516 DOID:0050690 DOID:2256 osteochondrodysplasia MONDO:0015263 Brugada syndrome MONDO:0000992 DOID:0050451 DOID:10273 heart conduction disease @@ -6795,7 +6791,6 @@ MONDO:0015867 vaginal carcinoma MONDO:0001402 DOID:0050918 DOID:119 vaginal canc MONDO:0015867 vaginal carcinoma MONDO:0004993 DOID:0050918 DOID:305 carcinoma MONDO:0015871 benign breast phyllodes tumor MONDO:0000620 DOID:1631 DOID:0060082 breast benign neoplasm MONDO:0015908 chromomycosis MONDO:0000255 DOID:1562 DOID:0050135 subcutaneous mycosis -MONDO:0015909 aplastic anemia MONDO:0002280 DOID:12449 DOID:2355 anemia MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss MONDO:0000009 DOID:0060651 DOID:2218 inherited bleeding disorder, platelet-type MONDO:0015925 interstitial lung disease MONDO:0005275 DOID:3082 DOID:850 lung disorder MONDO:0015926 pneumoconiosis MONDO:0015925 DOID:10316 DOID:3082 interstitial lung disease @@ -6911,7 +6906,6 @@ MONDO:0017282 alveolar echinococcosis MONDO:0005738 DOID:12148 DOID:1496 echinoc MONDO:0017287 IgG4-related disease MONDO:0007179 DOID:0080356 DOID:417 autoimmune disease MONDO:0017312 Perrault syndrome MONDO:0006025 DOID:0050857 DOID:0050737 autosomal recessive disease MONDO:0017324 autosomal recessive hypophosphatemic rickets MONDO:0006025 DOID:0050949 DOID:0050737 autosomal recessive disease -MONDO:0017347 plasmablastic lymphoma MONDO:0018905 DOID:0080779 DOID:0050745 diffuse large B-cell lymphoma MONDO:0017376 reactive arthritis MONDO:0005578 DOID:6196 DOID:848 arthritic joint disease MONDO:0017386 pleomorphic rhabdomyosarcoma MONDO:0005212 DOID:3250 DOID:3247 rhabdomyosarcoma MONDO:0017416 postpoliomyelitis syndrome MONDO:0017373 DOID:4952 DOID:4953 poliomyelitis @@ -7211,7 +7205,6 @@ MONDO:0020283 uveitis MONDO:0002661 DOID:13141 DOID:3480 uveal disorder MONDO:0020290 familial atrioventricular septal defect MONDO:0002078 DOID:0050651 DOID:1681 heart septal defect MONDO:0020300 autosomal dominant nocturnal frontal lobe epilepsy MONDO:0002612 DOID:0060681 DOID:3331 frontal lobe epilepsy MONDO:0020311 chronic myelomonocytic leukemia MONDO:0001014 DOID:0080188 DOID:1036 chronic leukemia -MONDO:0020323 primary mediastinal large B-cell lymphoma MONDO:0018905 DOID:0080210 DOID:0050745 diffuse large B-cell lymphoma MONDO:0020331 indolent systemic mastocytosis MONDO:0016586 DOID:4660 DOID:349 systemic mastocytosis MONDO:0020332 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease MONDO:0016586 DOID:4797 DOID:349 systemic mastocytosis MONDO:0020333 aggressive systemic mastocytosis MONDO:0016586 DOID:4798 DOID:349 systemic mastocytosis @@ -7862,7 +7855,6 @@ MONDO:0700251 orofacial cleft 7 MONDO:0000358 DOID:0080400 DOID:0050567 orofacia MONDO:0800025 Teebi hypertelorism syndrome 1 MONDO:0030639 DOID:0080698 DOID:0081073 Teebi hypertelorism syndrome MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease MONDO:0001292 DOID:0060731 DOID:11465 autonomic nervous system disorder MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 MONDO:0019046 DOID:0080523 DOID:10579 leukodystrophy -MONDO:0800029 interstitial lung disease 2 MONDO:0002771 DOID:0050156 DOID:3770 pulmonary fibrosis MONDO:0800042 restrictive dermopathy 1 MONDO:0031213 DOID:0070369 DOID:0060762 restrictive dermopathy MONDO:0800044 congenital disorder of deglycosylation 1 MONDO:0019214 DOID:0060728 DOID:2978 inborn carbohydrate metabolic disorder MONDO:0800366 dyskeratosis congenita, autosomal dominant 4 MONDO:0015780 DOID:0070020 DOID:2729 dyskeratosis congenita @@ -7954,7 +7946,6 @@ MONDO:0850418 diffuse large B-cell lymphoma activated B-cell type MONDO:0018905 MONDO:0850419 diffuse large B-cell lymphoma germinal center B-cell type MONDO:0018905 DOID:0080997 DOID:0050745 diffuse large B-cell lymphoma MONDO:0850420 acute necrotizing pancreatitis MONDO:0006515 DOID:0080998 DOID:2913 acute pancreatitis MONDO:0850421 acute hemorrhagic pancreatitis MONDO:0006515 DOID:0080999 DOID:2913 acute pancreatitis -MONDO:0850426 high-grade B-cell lymphoma double-hit/triple-hit MONDO:0004095 DOID:0081004 DOID:707 B-cell neoplasm MONDO:0850445 benign peritoneal solitary fibrous tumor MONDO:0000650 DOID:0081026 DOID:0060117 peritoneal benign neoplasm MONDO:0850449 mixed phenotype acute leukemia with BCR-ABL1 MONDO:0020322 DOID:0081036 DOID:9953 acute biphenotypic leukemia MONDO:0850450 mixed phenotype acute leukemia with MLL rearranged MONDO:0020322 DOID:0081037 DOID:9953 acute biphenotypic leukemia diff --git a/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs.tsv b/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs.tsv index 0f19e504..93cf03e4 100644 --- a/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs.tsv +++ b/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs.tsv @@ -5,6 +5,7 @@ DOID:0050068 obsolete pestis minor True False True True DOID:0111201 obsolete distal hereditary motor neuronopathy type 7A True False True True DOID:0111204 obsolete distal hereditary motor neuronopathy type 5A True False True True DOID:0111208 obsolete distal hereditary motor neuronopathy type 2A True False True True +DOID:13121 obsolete deficiency anemia True False True True DOID:1634 obsolete breast papillomatosis True False True True DOID:5209 obsolete benign struma ovarii True False True True DOID:955 obsolete benign neurilemmoma True False True True diff --git a/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs_summary.tsv b/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs_summary.tsv index 51c1adbf..15b2be10 100644 --- a/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs_summary.tsv +++ b/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs_summary.tsv @@ -1,2 +1,2 @@ n_in1_notIn2_in3 pct_in1_notIn2_in3__over_in1 -13 0.0009 +14 0.001 diff --git a/src/ontology/reports/doid_exclusion_reasons.robot.template.tsv b/src/ontology/reports/doid_exclusion_reasons.robot.template.tsv index 40941246..49a80413 100644 --- a/src/ontology/reports/doid_exclusion_reasons.robot.template.tsv +++ b/src/ontology/reports/doid_exclusion_reasons.robot.template.tsv @@ -1019,6 +1019,7 @@ DOID:13076 MONDO:excludeNonDisease DOID:13077 MONDO:excludeNonDisease DOID:1308 MONDO:excludeNonDisease DOID:1311 MONDO:excludeNonDisease +DOID:13121 MONDO:excludeNonDisease DOID:1313 MONDO:excludeNonDisease DOID:1314 MONDO:excludeNonDisease DOID:13149 MONDO:excludeNonDisease diff --git a/src/ontology/reports/doid_mapped_deprecated_terms.robot.template.tsv b/src/ontology/reports/doid_mapped_deprecated_terms.robot.template.tsv index e58f26ef..6fcf95dc 100644 --- a/src/ontology/reports/doid_mapped_deprecated_terms.robot.template.tsv +++ b/src/ontology/reports/doid_mapped_deprecated_terms.robot.template.tsv @@ -1,5 +1,6 @@ mondo_id source_id source ID A oboInOwl:hasDbXref >A oboInOwl:source +MONDO:0001639 DOID:13121 MONDO:equivalentObsolete MONDO:0008024 DOID:0111201 MONDO:equivalentObsolete MONDO:0008025 DOID:0111208 MONDO:equivalentObsolete MONDO:0013127 DOID:0050549 MONDO:equivalentObsolete diff --git a/src/ontology/reports/doid_mapping_status.tsv b/src/ontology/reports/doid_mapping_status.tsv index e94bd4c8..0aa92e9c 100644 --- a/src/ontology/reports/doid_mapping_status.tsv +++ b/src/ontology/reports/doid_mapping_status.tsv @@ -1,12 +1,18 @@ subject_id subject_label is_mapped is_excluded is_deprecated DOID:0060160 childhood spinal muscular atrophy False False False DOID:0060333 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 False False False -DOID:0060936 dystonia 28 childhood-onset False False False +DOID:0060936 dystonia 28, childhood-onset False False False DOID:0060937 dystonia 30 False False False DOID:0060938 dystonia 31 False False False DOID:0060939 dystonia 32 False False False DOID:0060940 dystonia 33 False False False -DOID:0060944 episodic kinesigenic dyskinesia 3 False False False +DOID:0060941 interstitial lung disease 1 False False False +DOID:0060942 Ullrich congenital muscular dystrophy 1B False False False +DOID:0060943 Ullrich congenital muscular dystrophy 1C False False False +DOID:0060944 Ullrich congenital muscular dystrophy 2 False False False +DOID:0060945 amelogenesis imperfecta type 1K False False False +DOID:0060946 Ullrich congenital muscular dystrophy 1A False False False +DOID:0060947 autosomal recessive intellectual developmental disorder 82 False False False DOID:0060955 dystonia 35, childhood-onset False False False DOID:0060956 dystonia 37, early-onset with striatal lesions False False False DOID:0060957 myoclonic dystonia 34 False False False @@ -37,6 +43,14 @@ DOID:0081441 Nicolaides-Baraitser syndrome False False False DOID:0081442 blepharophimosis-impaired intellectual development syndrome False False False DOID:0081443 Stolerman neurodevelopmental syndrome False False False DOID:0081444 neurodevelopmental disorder with poor growth and behavioral abnormalities False False False +DOID:0081445 sickle cell disease False False False +DOID:0081446 dimethylglycine dehydrogenase deficiency False False False +DOID:0081447 cone-rod dystrophy 21 False False False +DOID:0081448 cone-rod dystrophy 22 False False False +DOID:0081449 cone-rod dystrophy 24 False False False +DOID:0081450 hyperimmunoglobulinemia D periodic fever syndrome False False False +DOID:0081451 PFAPA syndrome False False False +DOID:0081452 large B-cell lymphoma False False False DOID:0111368 cholesterol-ester transfer protein deficiency False False False DOID:2536 chronic inflammatory demyelinating polyneuritis False False False DOID:4668 congenital kyphosis False False False @@ -2688,7 +2702,7 @@ DOID:0050150 Pontiac fever True False False DOID:0050152 aspiration pneumonia True False False DOID:0050153 pulmonary aspergilloma True False False DOID:0050155 sensory system disease True False False -DOID:0050156 idiopathic pulmonary fibrosis True False False +DOID:0050156 interstitial lung disease 2 True False False DOID:0050157 cryptogenic organizing pneumonia True False False DOID:0050158 desquamative interstitial pneumonia True False False DOID:0050159 lymphoid interstitial pneumonia True False False @@ -5309,7 +5323,7 @@ DOID:0080766 erythrokeratodermia variabilis et progressiva 6 True False False DOID:0080767 autoimmune myocarditis True False False DOID:0080768 pyridoxine-dependent epilepsy True False False DOID:0080769 early-onset vitamin B6-dependent epilepsy 1 True False False -DOID:0080770 autosomal dominant beta thalassemia True False False +DOID:0080770 autosomal dominant beta thalassemia True False False DOID:0080771 beta-thalassemia major True False False DOID:0080772 beta-thalassemia intermedia True False False DOID:0080773 delta beta-thalassemia True False False @@ -5960,7 +5974,7 @@ DOID:0090041 torsion dystonia 4 True False False DOID:0090042 torsion dystonia 17 True False False DOID:0090043 dystonia 5 True False False DOID:0090044 dystonia 9 True False False -DOID:0090045 childhood onset GLUT1 deficiency syndrome 2 True False False +DOID:0090045 childhood-onset GLUT1 deficiency syndrome 2 True False False DOID:0090046 dystonia 21 True False False DOID:0090047 paroxysmal nonkinesigenic dyskinesia 2 True False False DOID:0090048 dystonia 16 True False False @@ -8741,7 +8755,7 @@ DOID:10972 salpingo-oophoritis True False False DOID:10973 acute salpingitis True False False DOID:10974 oophoritis True False False DOID:10976 membranous glomerulonephritis True False False -DOID:1098 fetal erythroblastosis True False False +DOID:1098 hemolytic disease of the fetus True False False DOID:10983 Alport syndrome True False False DOID:10986 discitis True False False DOID:10989 conjunctival vascular disease True False False @@ -9477,7 +9491,6 @@ DOID:13113 cicatricial entropion True False False DOID:13117 paronychia True False False DOID:1312 focal segmental glomerulosclerosis True False False DOID:13120 protein-deficiency anemia True False False -DOID:13121 deficiency anemia True False False DOID:13127 gonococcal spondylitis True False False DOID:13129 severe pre-eclampsia True False False DOID:13133 HELLP syndrome True False False @@ -10740,7 +10753,7 @@ DOID:2981 kidney papillary necrosis True False False DOID:2982 perinephritis True False False DOID:2983 anuria True False False DOID:2986 IgA glomerulonephritis True False False -DOID:2987 familial mediterranean fever True False False +DOID:2987 familial Mediterranean fever True False False DOID:2988 antiphospholipid syndrome True False False DOID:299 adenocarcinoma True False False DOID:2992 prostate neuroendocrine neoplasm True False False @@ -14013,6 +14026,7 @@ DOID:0111201 obsolete distal hereditary motor neuronopathy type 7A True True Tru DOID:0111204 obsolete distal hereditary motor neuronopathy type 5A True True True DOID:0111208 obsolete distal hereditary motor neuronopathy type 2A True True True DOID:10919 obsolete transsexualism True True True +DOID:13121 obsolete deficiency anemia True True True DOID:1634 obsolete breast papillomatosis True True True DOID:5209 obsolete benign struma ovarii True True True DOID:6809 obsolete vaginal tubular adenoma True True True diff --git a/src/ontology/reports/doid_term_exclusions.txt b/src/ontology/reports/doid_term_exclusions.txt index 00895aff..f1c66c3a 100644 --- a/src/ontology/reports/doid_term_exclusions.txt +++ b/src/ontology/reports/doid_term_exclusions.txt @@ -1012,6 +1012,7 @@ DOID:13076 DOID:13077 DOID:1308 DOID:1311 +DOID:13121 DOID:1313 DOID:1314 DOID:13149 diff --git a/src/ontology/reports/doid_unmapped_terms.tsv b/src/ontology/reports/doid_unmapped_terms.tsv index 8e542612..e4b530c4 100644 --- a/src/ontology/reports/doid_unmapped_terms.tsv +++ b/src/ontology/reports/doid_unmapped_terms.tsv @@ -3,6 +3,7 @@ DOID:0081403 BCOR ITD sarcoma DOID:0081404 BCOR-CCNB3 sarcoma DOID:0070539 Halperin-Birk syndrome DOID:0081441 Nicolaides-Baraitser syndrome +DOID:0081451 PFAPA syndrome DOID:0081440 Peroxisome biogenesis disorder 10B DOID:0081439 Peroxisome biogenesis disorder 11B DOID:0081433 Peroxisome biogenesis disorder 4B @@ -13,6 +14,12 @@ DOID:0081437 Peroxisome biogenesis disorder 8B DOID:0081438 Peroxisome biogenesis disorder 9B DOID:0081443 Stolerman neurodevelopmental syndrome DOID:0081414 TFEB-rearranged renal cell carcinoma +DOID:0060946 Ullrich congenital muscular dystrophy 1A +DOID:0060942 Ullrich congenital muscular dystrophy 1B +DOID:0060943 Ullrich congenital muscular dystrophy 1C +DOID:0060944 Ullrich congenital muscular dystrophy 2 +DOID:0060945 amelogenesis imperfecta type 1K +DOID:0060947 autosomal recessive intellectual developmental disorder 82 DOID:0081442 blepharophimosis-impaired intellectual development syndrome DOID:0081416 childhood renal cell carcinoma with MiT translocations DOID:0081407 childhood round cell sarcoma with EWSR1-non-ETS fusion @@ -20,10 +27,14 @@ DOID:0081405 childhood sarcoma with BCOR genetic alterations DOID:0060160 childhood spinal muscular atrophy DOID:0111368 cholesterol-ester transfer protein deficiency DOID:2536 chronic inflammatory demyelinating polyneuritis +DOID:0081447 cone-rod dystrophy 21 +DOID:0081448 cone-rod dystrophy 22 +DOID:0081449 cone-rod dystrophy 24 DOID:4668 congenital kyphosis +DOID:0081446 dimethylglycine dehydrogenase deficiency DOID:0060967 dystonia 22, adult-onset DOID:0060966 dystonia 22, juvenile-onset -DOID:0060936 dystonia 28 childhood-onset +DOID:0060936 dystonia 28, childhood-onset DOID:0060937 dystonia 30 DOID:0060938 dystonia 31 DOID:0060939 dystonia 32 @@ -31,7 +42,9 @@ DOID:0060940 dystonia 33 DOID:0060955 dystonia 35, childhood-onset DOID:0060956 dystonia 37, early-onset with striatal lesions DOID:0060963 dystonia, DOPA-responsive -DOID:0060944 episodic kinesigenic dyskinesia 3 +DOID:0081450 hyperimmunoglobulinemia D periodic fever syndrome +DOID:0060941 interstitial lung disease 1 +DOID:0081452 large B-cell lymphoma DOID:0081431 microcephaly, short stature, and limb abnormalities DOID:0081432 microcephaly-micromelia syndrome DOID:0060333 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 @@ -41,3 +54,4 @@ DOID:9373 postural kyphosis DOID:0081408 round cell sarcoma with EWSR1-NFATC2 gene fusion DOID:0081409 round cell sarcoma with EWSR1-PATZ1 gene fusion DOID:0081410 round cell sarcoma with FUS-NFATC2 gene fusion +DOID:0081445 sickle cell disease diff --git a/src/ontology/reports/mirror_signature-doid.tsv b/src/ontology/reports/mirror_signature-doid.tsv index 68ea261b..ed44cd65 100644 --- a/src/ontology/reports/mirror_signature-doid.tsv +++ b/src/ontology/reports/mirror_signature-doid.tsv @@ -2465,7 +2465,13 @@ + + + + + + @@ -4410,6 +4416,14 @@ + + + + + + + + diff --git a/src/ontology/reports/mirror_signature-mondo.tsv b/src/ontology/reports/mirror_signature-mondo.tsv index fa86bf0d..337437ef 100644 --- a/src/ontology/reports/mirror_signature-mondo.tsv +++ b/src/ontology/reports/mirror_signature-mondo.tsv @@ -42231,6 +42231,7 @@ + @@ -43701,6 +43702,43 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + diff --git a/src/ontology/reports/mirror_signature-omim.tsv b/src/ontology/reports/mirror_signature-omim.tsv index 26cc770f..7bf8d95c 100644 --- a/src/ontology/reports/mirror_signature-omim.tsv +++ b/src/ontology/reports/mirror_signature-omim.tsv @@ -486,6 +486,7 @@ + @@ -594,6 +595,7 @@ + @@ -1259,6 +1261,7 @@ + @@ -30151,6 +30154,25 @@ + + + + + + + + + + + + + + + + + + + @@ -30405,6 +30427,7 @@ + diff --git a/src/ontology/reports/omim.subclass.confirmed.robot.tsv b/src/ontology/reports/omim.subclass.confirmed.robot.tsv index e9fd973a..742607a0 100644 --- a/src/ontology/reports/omim.subclass.confirmed.robot.tsv +++ b/src/ontology/reports/omim.subclass.confirmed.robot.tsv @@ -39,6 +39,7 @@ MONDO:0007184 alopecia, androgenetic, 1 MONDO:0000005 OMIM:109200 OMIMPS:203655 MONDO:0007193 primary biliary cholangitis 1 MONDO:0005388 OMIM:109720 OMIMPS:109720 primary biliary cholangitis MONDO:0007204 Cole-Carpenter syndrome 1 MONDO:0016085 OMIM:112240 OMIMPS:112240 Cole-Carpenter syndrome MONDO:0007219 Osebold-Remondini syndrome MONDO:0019696 OMIM:112910 OMIMPS:602875 acromesomelic dysplasia +MONDO:0007236 branchiootorenal syndrome 1 MONDO:0007029 OMIM:113650 OMIMPS:113650 branchio-oto-renal syndrome MONDO:0007240 progressive familial heart block, type 1A MONDO:0019490 OMIM:113900 OMIMPS:113900 progressive familial heart block MONDO:0007252 Gordon syndrome MONDO:0019942 OMIM:114300 OMIMPS:108120 distal arthrogryposis MONDO:0007257 candidiasis, familial, 1 MONDO:0015279 OMIM:114580 OMIMPS:114580 chronic mucocutaneous candidiasis @@ -56,6 +57,7 @@ MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant MONDO:0001029 OMIM:118 MONDO:0007335 orofacial cleft 1 MONDO:0000358 OMIM:119530 OMIMPS:119530 orofacial cleft MONDO:0007349 familial cold autoinflammatory syndrome 1 MONDO:0018768 OMIM:120100 OMIMPS:120100 familial cold autoinflammatory syndrome MONDO:0007356 Lynch syndrome 1 MONDO:0018630 OMIM:120435 OMIMPS:120435 hereditary nonpolyposis colon cancer +MONDO:0007360 branchiootic syndrome 2 MONDO:0018878 OMIM:120502 OMIMPS:602588 branchiootic syndrome MONDO:0007362 cone-rod dystrophy 2 MONDO:0015993 OMIM:120970 OMIMPS:120970 cone-rod dystrophy MONDO:0007363 congenital contractural arachnodactyly MONDO:0019942 OMIM:121050 OMIMPS:108120 distal arthrogryposis MONDO:0007365 seizures, benign familial neonatal, 1 MONDO:0016027 OMIM:121200 OMIMPS:121200 benign neonatal seizures @@ -108,6 +110,7 @@ MONDO:0007734 holoprosencephaly 4 MONDO:0016296 OMIM:142946 OMIMPS:236100 holopr MONDO:0007745 Gilbert syndrome MONDO:0002408 OMIM:143500 OMIMPS:237450 hereditary hyperbilirubinemia MONDO:0007750 hypercholesterolemia, familial, 1 MONDO:0005439 OMIM:143890 OMIMPS:143890 familial hypercholesterolemia MONDO:0007751 hypercholesterolemia, autosomal dominant, type B MONDO:0005439 OMIM:144010 OMIMPS:143890 familial hypercholesterolemia +MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 MONDO:0968949 OMIM:144200 OMIMPS:144200 palmoplantar keratoderma, epidermolytic MONDO:0007772 pseudohypoaldosteronism type 2A MONDO:0019162 OMIM:145260 OMIMPS:145260 pseudohypoaldosteronism type 2 MONDO:0007783 malignant hyperthermia, susceptibility to, 1 MONDO:0800188 OMIM:145600 OMIMPS:145600 malignant hyperthermia, susceptibility to MONDO:0007790 Charcot-Marie-Tooth disease type 3 MONDO:0015626 OMIM:145900 OMIMPS:118220 Charcot-Marie-Tooth disease @@ -423,6 +426,7 @@ MONDO:0009787 3-methylglutaconic aciduria type 3 MONDO:0017359 OMIM:258501 OMIMP MONDO:0009793 orofaciodigital syndrome III MONDO:0015375 OMIM:258850 OMIMPS:311200 orofaciodigital syndrome MONDO:0009794 orofaciodigital syndrome IV MONDO:0015375 OMIM:258860 OMIMPS:311200 orofaciodigital syndrome MONDO:0009795 orofaciodigital syndrome IX MONDO:0015375 OMIM:258865 OMIMPS:311200 orofaciodigital syndrome +MONDO:0009806 Bruck syndrome 1 MONDO:0017195 OMIM:259450 OMIMPS:259450 Bruck syndrome MONDO:0009815 autosomal recessive osteopetrosis 1 MONDO:0019026 OMIM:259700 OMIMPS:259700 autosomal recessive osteopetrosis MONDO:0009816 autosomal recessive osteopetrosis 2 MONDO:0019026 OMIM:259710 OMIMPS:259700 autosomal recessive osteopetrosis MONDO:0009817 autosomal recessive osteopetrosis 5 MONDO:0019026 OMIM:259720 OMIMPS:259700 autosomal recessive osteopetrosis @@ -771,6 +775,7 @@ MONDO:0011232 migraine, familial hemiplegic, 2 MONDO:0000700 OMIM:602481 OMIMPS: MONDO:0011233 Axenfeld-Rieger syndrome type 3 MONDO:0019187 OMIM:602482 OMIMPS:180500 Axenfeld-Rieger syndrome MONDO:0011234 auriculocondylar syndrome 1 MONDO:0000107 OMIM:602483 OMIMPS:602483 auriculocondylar syndrome MONDO:0011257 MPI-congenital disorder of glycosylation MONDO:0005500 OMIM:602579 OMIMPS:212065 congenital disorder of glycosylation type I +MONDO:0011258 branchiootic syndrome 1 MONDO:0018878 OMIM:602588 OMIMPS:602588 branchiootic syndrome MONDO:0011259 retinitis pigmentosa 22 MONDO:0019200 OMIM:602594 OMIMPS:268000 retinitis pigmentosa MONDO:0011265 tooth agenesis, selective, 2 MONDO:0005486 OMIM:602639 OMIMPS:106600 tooth agenesis MONDO:0011266 myotonic dystrophy type 2 MONDO:0016107 OMIM:602668 OMIMPS:160900 myotonic dystrophy @@ -1018,6 +1023,7 @@ MONDO:0012021 myopia 17, autosomal dominant MONDO:0001384 OMIM:608367 OMIMPS:160 MONDO:0012022 orofacial cleft 4 MONDO:0000358 OMIM:608371 OMIMPS:119530 orofacial cleft MONDO:0012023 autosomal dominant nonsyndromic hearing loss 49 MONDO:0019587 OMIM:608372 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0012024 retinitis pigmentosa 26 MONDO:0019200 OMIM:608380 OMIMPS:268000 retinitis pigmentosa +MONDO:0012025 branchiootic syndrome 3 MONDO:0018878 OMIM:608389 OMIMPS:602588 branchiootic syndrome MONDO:0012030 autosomal dominant nonsyndromic hearing loss 43 MONDO:0019587 OMIM:608394 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0012031 platelet-type bleeding disorder 10 MONDO:0000009 OMIM:608404 OMIMPS:231200 inherited bleeding disorder, platelet-type MONDO:0012034 autosomal dominant limb-girdle muscular dystrophy type 1F MONDO:0015151 OMIM:608423 OMIMPS:603511 muscular dystrophy, limb-girdle, autosomal dominant @@ -1093,6 +1099,7 @@ MONDO:0012212 Loeys-Dietz syndrome 1 MONDO:0018954 OMIM:609192 OMIMPS:609192 Loe MONDO:0012214 glucocorticoid deficiency 3 MONDO:0008733 OMIM:609197 OMIMPS:202200 familial glucocorticoid deficiency MONDO:0012215 myofibrillar myopathy 3 MONDO:0018943 OMIM:609200 OMIMPS:601419 myofibrillar myopathy MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0044203 OMIM:609218 OMIMPS:136520 foveal hypoplasia +MONDO:0012217 Bruck syndrome 2 MONDO:0017195 OMIM:609220 OMIMPS:259450 Bruck syndrome MONDO:0012220 Griscelli syndrome type 3 MONDO:0018306 OMIM:609227 OMIMPS:214450 Griscelli syndrome MONDO:0012224 febrile seizures, familial, 6 MONDO:0000032 OMIM:609253 OMIMPS:121210 febrile seizures, familial MONDO:0012225 Senior-Loken syndrome 5 MONDO:0017842 OMIM:609254 OMIMPS:266900 Senior-Loken syndrome @@ -1253,6 +1260,7 @@ MONDO:0012567 autism, susceptibility to, 12 MONDO:0020836 OMIM:610838 OMIMPS:209 MONDO:0012569 mitral valve prolapse, myxomatous 3 MONDO:0008004 OMIM:610840 OMIMPS:157700 familial mitral valve prolapse MONDO:0012571 primary ciliary dyskinesia 6 MONDO:0016575 OMIM:610852 OMIMPS:244400 primary ciliary dyskinesia MONDO:0012573 vesicoureteral reflux 2 MONDO:0017329 OMIM:610878 OMIMPS:193000 familial vesicoureteral reflux +MONDO:0012575 branchiootorenal syndrome 2 MONDO:0007029 OMIM:610896 OMIMPS:113650 branchio-oto-renal syndrome MONDO:0012576 supranuclear palsy, progressive, 3 MONDO:0019037 OMIM:610898 OMIMPS:601104 progressive supranuclear palsy MONDO:0012578 autism, susceptibility to, 13 MONDO:0020836 OMIM:610908 OMIMPS:209850 autism, susceptiblity to MONDO:0012582 interstitial lung disease due to ABCA3 deficiency MONDO:0012580 OMIM:610921 OMIMPS:265120 hereditary pulmonary alveolar proteinosis @@ -1352,6 +1360,7 @@ MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency MONDO:0015 MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency MONDO:0018151 OMIM:612016 OMIMPS:607426 coenzyme Q10 deficiency MONDO:0012785 pyloric stenosis, infantile hypertrophic, 3 MONDO:0100239 OMIM:612017 OMIMPS:179010 inherited hypertrophic pyloric stenosis MONDO:0012790 amyotrophic lateral sclerosis type 10 MONDO:0005144 OMIM:612069 OMIMPS:105400 familial amyotrophic lateral sclerosis +MONDO:0012793 hypouricemia, renal, 2 MONDO:0968951 OMIM:612076 OMIMPS:220150 hypouricemia, renal MONDO:0012796 retinitis pigmentosa 41 MONDO:0019200 OMIM:612095 OMIMPS:268000 retinitis pigmentosa MONDO:0012797 otosclerosis 8 MONDO:0005349 OMIM:612096 OMIMPS:166800 otosclerosis MONDO:0012799 hypertrophic cardiomyopathy 11 MONDO:0024573 OMIM:612098 OMIMPS:192600 familial hypertrophic cardiomyopathy @@ -2520,6 +2529,7 @@ MONDO:0020721 X-linked sideroblastic anemia 1 MONDO:0020099 OMIM:300751 OMIMPS:3 MONDO:0020722 nephrolithiasis susceptibility caused by SLC26A1 MONDO:0957318 OMIM:167030 OMIMPS:167030 nephrolithiasis, calcium oxalate MONDO:0020724 cerebral cavernous malformation 1 MONDO:0031037 OMIM:116860 OMIMPS:116860 famililal cerebral cavernous malformations MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 MONDO:0000608 OMIM:174000 OMIMPS:162000 familial juvenile hyperuricemic nephropathy +MONDO:0020728 hypouricemia, renal 1 MONDO:0968951 OMIM:220150 OMIMPS:220150 hypouricemia, renal MONDO:0020730 carpal tunnel syndrome 1 MONDO:0007275 OMIM:115430 OMIMPS:115430 carpal tunnel syndrome MONDO:0020733 proximal symphalangism 1A MONDO:0008511 OMIM:185800 OMIMPS:185800 proximal symphalangism MONDO:0020737 optic atrophy 10 with or without ataxia, intellectual disability, and seizures MONDO:0043878 OMIM:616732 OMIMPS:165500 hereditary optic atrophy @@ -3629,6 +3639,7 @@ MONDO:0957284 nemaline myopathy 5C, autosomal dominant MONDO:0018958 OMIM:620389 MONDO:0957288 intellectual developmental disorder, autosomal recessive 79 MONDO:0019502 OMIM:620393 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0957294 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 MONDO:0000148 OMIM:620400 OMIMPS:614742 pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0957301 spermatogenic failure 84 MONDO:0004983 OMIM:620409 OMIMPS:258150 spermatogenic failure +MONDO:0957303 palmoplantar keratoderma, epidermolytic, 2 MONDO:0968949 OMIM:620411 OMIMPS:144200 palmoplantar keratoderma, epidermolytic MONDO:0957308 spastic paraplegia 90A, autosomal dominant MONDO:0019064 OMIM:620416 OMIMPS:303350 hereditary spastic paraplegia MONDO:0957309 spastic paraplegia 90B, autosomal recessive MONDO:0019064 OMIM:620417 OMIMPS:303350 hereditary spastic paraplegia MONDO:0957382 multiple mitochondrial dysfunctions syndrome 7 MONDO:0017338 OMIM:620423 OMIMPS:605711 fatal multiple mitochondrial dysfunctions syndrome @@ -3745,6 +3756,13 @@ MONDO:0958239 microphthalmia/coloboma 11 MONDO:0000170 OMIM:620731 OMIMPS:300345 MONDO:0958241 cardiomyopathy, familial hypertrophic, 30, atrial MONDO:0024573 OMIM:620734 OMIMPS:192600 familial hypertrophic cardiomyopathy MONDO:0958242 spermatogenic failure 90 MONDO:0004983 OMIM:620744 OMIMPS:258150 spermatogenic failure MONDO:0958277 hearing loss, autosomal recessive 123 MONDO:0019588 OMIM:620745 OMIMPS:220290 hearing loss, autosomal recessive +MONDO:0958322 intellectual developmental disorder, x-linked, syndromic 37 MONDO:0020119 OMIM:301118 OMIMPS:309510 X-linked syndromic intellectual disability +MONDO:0958324 generalized epilepsy with febrile seizures plus, type 12 MONDO:0018214 OMIM:620755 OMIMPS:604233 generalized epilepsy with febrile seizures plus +MONDO:0958325 thrombocytopenia 12 with or without myopathy MONDO:0100241 OMIM:620757 OMIMPS:313900 inherited thrombocytopenia +MONDO:0958330 developmental and epileptic encephalopathy 113 MONDO:0100062 OMIM:620772 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0958331 developmental and epileptic encephalopathy 114 MONDO:0100062 OMIM:620774 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0958333 thrombocytopenia 13, syndromic MONDO:0100241 OMIM:620776 OMIMPS:313900 inherited thrombocytopenia +MONDO:0968944 intellectual developmental disorder, autosomal recessive 82 MONDO:0019502 OMIM:620779 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:8000006 WHIM syndrome 1 MONDO:0023880 OMIM:193670 OMIMPS:193670 WHIM syndrome MONDO:8000008 Martsolf syndrome 1 MONDO:0023910 OMIM:212720 OMIMPS:212720 Martsolf syndrome MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive MONDO:0023961 OMIM:243180 OMIMPS:243180 visceral neuropathy, familial diff --git a/src/ontology/reports/omim_exclusion_reasons.robot.template.tsv b/src/ontology/reports/omim_exclusion_reasons.robot.template.tsv index b738b6f4..f6f69534 100644 --- a/src/ontology/reports/omim_exclusion_reasons.robot.template.tsv +++ b/src/ontology/reports/omim_exclusion_reasons.robot.template.tsv @@ -17520,6 +17520,17 @@ OMIM:620770 MONDO:excludeGene OMIM:620773 MONDO:excludeGene OMIM:620778 MONDO:excludeGene OMIM:620781 MONDO:excludeGene +OMIM:620787 MONDO:excludeGene +OMIM:620788 MONDO:excludeGene +OMIM:620791 MONDO:excludeGene +OMIM:620797 MONDO:excludeGene +OMIM:620798 MONDO:excludeGene +OMIM:620799 MONDO:excludeGene +OMIM:620800 MONDO:excludeGene +OMIM:620801 MONDO:excludeGene +OMIM:620802 MONDO:excludeGene +OMIM:620803 MONDO:excludeGene +OMIM:620804 MONDO:excludeGene OMIM:100640 MONDO:excludeNonDisease OMIM:100660 MONDO:excludeNonDisease OMIM:100670 MONDO:excludeNonDisease @@ -20096,7 +20107,6 @@ OMIM:601562 MONDO:excludeNonDisease OMIM:601569 MONDO:excludeNonDisease OMIM:601571 MONDO:excludeNonDisease OMIM:601572 MONDO:excludeNonDisease -OMIM:601575 MONDO:excludeNonDisease OMIM:601576 MONDO:excludeNonDisease OMIM:601577 MONDO:excludeNonDisease OMIM:601578 MONDO:excludeNonDisease @@ -20352,6 +20362,7 @@ OMIM:602117 MONDO:excludeNonDisease OMIM:602126 MONDO:excludeNonDisease OMIM:602127 MONDO:excludeNonDisease OMIM:602128 MONDO:excludeNonDisease +OMIM:602129 MONDO:excludeNonDisease OMIM:602131 MONDO:excludeNonDisease OMIM:602132 MONDO:excludeNonDisease OMIM:602133 MONDO:excludeNonDisease @@ -23625,7 +23636,6 @@ OMIM:607827 MONDO:excludeNonDisease OMIM:607828 MONDO:excludeNonDisease OMIM:607833 MONDO:excludeNonDisease OMIM:607835 MONDO:excludeNonDisease -OMIM:607843 MONDO:excludeNonDisease OMIM:607845 MONDO:excludeNonDisease OMIM:607846 MONDO:excludeNonDisease OMIM:607848 MONDO:excludeNonDisease @@ -25962,7 +25972,6 @@ OMIM:611874 MONDO:excludeNonDisease OMIM:611877 MONDO:excludeNonDisease OMIM:611882 MONDO:excludeNonDisease OMIM:611883 MONDO:excludeNonDisease -OMIM:611885 MONDO:excludeNonDisease OMIM:611887 MONDO:excludeNonDisease OMIM:611889 MONDO:excludeNonDisease OMIM:611896 MONDO:excludeNonDisease @@ -26034,7 +26043,6 @@ OMIM:612002 MONDO:excludeNonDisease OMIM:612019 MONDO:excludeNonDisease OMIM:612022 MONDO:excludeNonDisease OMIM:612023 MONDO:excludeNonDisease -OMIM:612024 MONDO:excludeNonDisease OMIM:612027 MONDO:excludeNonDisease OMIM:612028 MONDO:excludeNonDisease OMIM:612031 MONDO:excludeNonDisease @@ -26955,7 +26963,6 @@ OMIM:614240 MONDO:excludeNonDisease OMIM:614241 MONDO:excludeNonDisease OMIM:614242 MONDO:excludeNonDisease OMIM:614244 MONDO:excludeNonDisease -OMIM:614246 MONDO:excludeNonDisease OMIM:614247 MONDO:excludeNonDisease OMIM:614248 MONDO:excludeNonDisease OMIM:614259 MONDO:excludeNonDisease @@ -27817,7 +27824,6 @@ OMIM:616347 MONDO:excludeNonDisease OMIM:616348 MONDO:excludeNonDisease OMIM:616349 MONDO:excludeNonDisease OMIM:616350 MONDO:excludeNonDisease -OMIM:616352 MONDO:excludeNonDisease OMIM:616356 MONDO:excludeNonDisease OMIM:616358 MONDO:excludeNonDisease OMIM:616360 MONDO:excludeNonDisease @@ -29853,6 +29859,17 @@ OMIM:620770 MONDO:excludeNonDisease OMIM:620773 MONDO:excludeNonDisease OMIM:620778 MONDO:excludeNonDisease OMIM:620781 MONDO:excludeNonDisease +OMIM:620787 MONDO:excludeNonDisease +OMIM:620788 MONDO:excludeNonDisease +OMIM:620791 MONDO:excludeNonDisease +OMIM:620797 MONDO:excludeNonDisease +OMIM:620798 MONDO:excludeNonDisease +OMIM:620799 MONDO:excludeNonDisease +OMIM:620800 MONDO:excludeNonDisease +OMIM:620801 MONDO:excludeNonDisease +OMIM:620802 MONDO:excludeNonDisease +OMIM:620803 MONDO:excludeNonDisease +OMIM:620804 MONDO:excludeNonDisease OMIM:123270 MONDO:excludePhenotype OMIM:130180 MONDO:excludePhenotype OMIM:131500 MONDO:excludePhenotype @@ -48914,3 +48931,14 @@ OMIM:620770 MONDO:nonDisease OMIM:620773 MONDO:nonDisease OMIM:620778 MONDO:nonDisease OMIM:620781 MONDO:nonDisease +OMIM:620787 MONDO:nonDisease +OMIM:620788 MONDO:nonDisease +OMIM:620791 MONDO:nonDisease +OMIM:620797 MONDO:nonDisease +OMIM:620798 MONDO:nonDisease +OMIM:620799 MONDO:nonDisease +OMIM:620800 MONDO:nonDisease +OMIM:620801 MONDO:nonDisease +OMIM:620802 MONDO:nonDisease +OMIM:620803 MONDO:nonDisease +OMIM:620804 MONDO:nonDisease diff --git a/src/ontology/reports/omim_mapped_deprecated_terms.robot.template.tsv b/src/ontology/reports/omim_mapped_deprecated_terms.robot.template.tsv index dedb877f..3028a160 100644 --- a/src/ontology/reports/omim_mapped_deprecated_terms.robot.template.tsv +++ b/src/ontology/reports/omim_mapped_deprecated_terms.robot.template.tsv @@ -20,7 +20,6 @@ MONDO:0010346 OMIM:300504 MONDO:equivalentObsolete MONDO:0010357 OMIM:300551 MONDO:equivalentObsolete MONDO:0010387 OMIM:300640 MONDO:equivalentObsolete MONDO:0010394 OMIM:300660 MONDO:equivalentObsolete -MONDO:0010425 OMIM:300778 MONDO:equivalentObsolete MONDO:0010470 OMIM:300881 MONDO:equivalentObsolete MONDO:0010527 OMIM:301590 MONDO:equivalentObsolete MONDO:0010601 OMIM:306500 MONDO:equivalentObsolete diff --git a/src/ontology/reports/omim_mapping_status.tsv b/src/ontology/reports/omim_mapping_status.tsv index 08b126f3..20c495a6 100644 --- a/src/ontology/reports/omim_mapping_status.tsv +++ b/src/ontology/reports/omim_mapping_status.tsv @@ -1,28 +1,14 @@ subject_id subject_label is_mapped is_excluded is_deprecated -OMIM:301118 intellectual developmental disorder, x-linked, syndromic 37 False False False -OMIM:620747 neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities False False False -OMIM:620755 generalized epilepsy with febrile seizures plus, type 12 False False False -OMIM:620757 thrombocytopenia 12 with or without myopathy False False False -OMIM:620762 macular dystrophy with or without cone dysfunction False False False -OMIM:620763 corneal dystrophy, lisch epithelial False False False -OMIM:620767 seckel syndrome 11 False False False -OMIM:620771 jeffries-lakhani neurodevelopmental syndrome False False False -OMIM:620772 developmental and epileptic encephalopathy 113 False False False -OMIM:620774 developmental and epileptic encephalopathy 114 False False False -OMIM:620775 neuromuscular disorder, congenital, with dysmorphic facies False False False -OMIM:620776 thrombocytopenia 13, syndromic False False False -OMIM:620777 pulmonary hypertension, primary, 6 False False False -OMIM:620779 intellectual developmental disorder, autosomal recessive 82 False False False -OMIM:620780 cutis laxa, autosomal recessive, type 1d False False False -OMIM:620782 neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder False False False -OMIM:620783 developmental and epileptic encephalopathy 115 False False False -OMIM:620784 neurodevelopmental disorder plus optic atrophy False False False -OMIMPS:113650 Branchiootorenal syndrome False False False -OMIMPS:144200 Palmoplantar keratoderma, epidermolytic False False False +OMIM:620785 neurodevelopmental disorder with progressive movement abnormalities False False False +OMIM:620786 basal ganglia calcification, idiopathic, 9, autosomal recessive False False False +OMIM:620789 aplasia cutis-enamel dysplasia syndrome False False False +OMIM:620790 neurodevelopmental disorder with hypotonia and seizures False False False +OMIM:620792 otosclerosis 12 False False False +OMIM:620794 deafness, autosomal recessive 124 False False False +OMIM:620795 autoinflammation with episodic fever and immune dysregulation False False False +OMIM:620796 proteasome-associated autoinflammatory syndrome 6 False False False OMIMPS:151623 Li-Fraumeni syndrome False False False -OMIMPS:220150 Hypouricemia, renal False False False -OMIMPS:259450 Bruck syndrome False False False -OMIMPS:602588 Branchiootic syndrome False False False +OMIMPS:215700 Citrullinemia False False False OMIM:100500 False False True OMIM:100680 False False True OMIM:100735 False False True @@ -639,6 +625,7 @@ OMIM:300706 False False True OMIM:300743 False False True OMIM:300744 False False True OMIM:300745 False False True +OMIM:300778 False False True OMIM:300800 False False True OMIM:300900 removed from database False False True OMIM:300987 False False True @@ -3970,7 +3957,7 @@ OMIM:300206 IL1RAPL1 False True False OMIM:300207 GPR50 False True False OMIM:300208 SCML2 False True False OMIM:300212 RGN False True False -OMIM:300213 CXX1 False True False +OMIM:300213 RTL8C False True False OMIM:300214 PLXNB3 False True False OMIM:300217 RAI2 False True False OMIM:300222 ITM2A False True False @@ -4451,7 +4438,7 @@ OMIM:300959 DIPK2B False True False OMIM:300961 MID1IP1 False True False OMIM:300962 GEMIN8 False True False OMIM:300964 LAS1L False True False -OMIM:300965 RGAG1 False True False +OMIM:300965 RTL9 False True False OMIM:300969 GPRASP2 False True False OMIM:300970 MORC4 False True False OMIM:300973 RHOXF1P1 False True False @@ -7514,7 +7501,7 @@ OMIM:603691 GALR2 False True False OMIM:603692 GALR3 False True False OMIM:603693 ZFPM2 False True False OMIM:603695 GUCY1B2 False True False -OMIM:603696 SEPT4 False True False +OMIM:603696 SEPTIN4 False True False OMIM:603697 ALOX15B False True False OMIM:603698 GBF1 False True False OMIM:603699 WNT11 False True False @@ -13970,7 +13957,7 @@ OMIM:611732 MBOAT1 False True False OMIM:611734 WDR77 False True False OMIM:611735 CDCP1 False True False OMIM:611736 greb1 protein False True False -OMIM:611737 SEPT10 False True False +OMIM:611737 SEPTIN10 False True False OMIM:611738 bone mineral density quantitative trait locus 7 False True False OMIM:611739 bone mineral density quantitative trait locus 8 False True False OMIM:611740 BCO2 False True False @@ -18943,6 +18930,17 @@ OMIM:620770 MTLN False True False OMIM:620773 PROSER1 False True False OMIM:620778 KIR3DS1 False True False OMIM:620781 TMEM208 False True False +OMIM:620787 TCAIM False True False +OMIM:620788 HIGD2A False True False +OMIM:620791 CEP76 False True False +OMIM:620797 DNLZ False True False +OMIM:620798 FRYL False True False +OMIM:620799 LINC00941 False True False +OMIM:620800 SAMD13 False True False +OMIM:620801 GK5 False True False +OMIM:620802 WDSUB1 False True False +OMIM:620803 HIGD1C False True False +OMIM:620804 MOB3C 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 @@ -21307,6 +21305,7 @@ OMIM:301111 intellectual developmental disorder, X-linked 112 True False False OMIM:301114 lui-jee-baron syndrome True False False OMIM:301115 immunodeficiency 118 True False False OMIM:301116 intellectual developmental disorder, X-linked 113 True False False +OMIM:301118 intellectual developmental disorder, x-linked, syndromic 37 True False False OMIM:301200 amelogenesis imperfecta, type 1e True False False OMIM:301201 amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2 True False False OMIM:301220 pigmentary disorder, reticulate, with systemic manifestations, X-linked True False False @@ -24503,7 +24502,7 @@ OMIM:615396 left ventricular noncompaction 10 True False False OMIM:615397 meckel syndrome, type 11 True False False OMIM:615398 multiple congenital anomalies-hypotonia-seizures syndrome 3 True False False OMIM:615399 paroxysmal nocturnal hemoglobinuria 2 True False False -OMIM:615400 epilepsy, familial adult myoclonic, 5 True False False +OMIM:615400 epilepsy, early-onset, 5, with or without developmental delay True False False OMIM:615401 immunodeficiency 8 with lymphoproliferation True False False OMIM:615402 dyschromatosis universalis hereditaria 3 True False False OMIM:615411 cortical dysplasia, complex, with other brain malformations 3 True False False @@ -27047,7 +27046,24 @@ OMIM:620734 cardiomyopathy, familial hypertrophic, 30, atrial True False False OMIM:620744 spermatogenic failure 90 True False False OMIM:620745 deafness, autosomal recessive 123 True False False OMIM:620746 neurodevelopmental disorder with hypotonia and characteristic brain abnormalities True False False +OMIM:620747 neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities True False False OMIM:620748 megalencephaly-polydactyly syndrome True False False +OMIM:620755 generalized epilepsy with febrile seizures plus, type 12 True False False +OMIM:620757 thrombocytopenia 12 with or without myopathy True False False +OMIM:620762 macular dystrophy with or without cone dysfunction True False False +OMIM:620763 corneal dystrophy, lisch epithelial True False False +OMIM:620767 seckel syndrome 11 True False False +OMIM:620771 jeffries-lakhani neurodevelopmental syndrome True False False +OMIM:620772 developmental and epileptic encephalopathy 113 True False False +OMIM:620774 developmental and epileptic encephalopathy 114 True False False +OMIM:620775 neuromuscular disorder, congenital, with dysmorphic facies True False False +OMIM:620776 thrombocytopenia 13, syndromic True False False +OMIM:620777 pulmonary hypertension, primary, 6 True False False +OMIM:620779 intellectual developmental disorder, autosomal recessive 82 True False False +OMIM:620780 cutis laxa, autosomal recessive, type 1d True False False +OMIM:620782 neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder True False False +OMIM:620783 developmental and epileptic encephalopathy 115 True False False +OMIM:620784 neurodevelopmental disorder plus optic atrophy True False False OMIMPS:100070 Aortic aneurysm, familial abdominal True False False OMIMPS:100300 Adams-Oliver syndrome True False False OMIMPS:101800 Acrodysostosis True False False @@ -27078,6 +27094,7 @@ OMIMPS:109400 Basal cell nevus syndrome True False False OMIMPS:109720 Biliary cirrhosis, primary True False False OMIMPS:109730 Aortic valve disease True False False OMIMPS:112240 Cole-Carpenter syndrome True False False +OMIMPS:113650 Branchiootorenal syndrome True False False OMIMPS:113700 Breasts and/or nipples, aplasia or hypoplasia of True False False OMIMPS:113800 Epidermolytic hyperkeratosis True False False OMIMPS:113900 Progressive familial heart block True False False @@ -27147,6 +27164,7 @@ OMIMPS:142690 Acne inversa True False False OMIMPS:142700 Developmental dysplasia of the hip True False False OMIMPS:143880 Hypercalcemia, infantile True False False OMIMPS:143890 Hypercholesterolemia, familial True False False +OMIMPS:144200 Palmoplantar keratoderma, epidermolytic True False False OMIMPS:145000 Hyperparathyroidism True False False OMIMPS:145260 Pseudohypoaldosteronism, type II True False False OMIMPS:145420 Teebi hypertelorism syndrome True False False @@ -27304,6 +27322,7 @@ OMIMPS:215500 Choroidal dystrophy, central areolar True False False OMIMPS:218330 Cranioectodermal dysplasia True False False OMIMPS:219000 Fraser syndrome True False False OMIMPS:220110 Mitochondrial complex IV deficiency, nuclear-type True False False +OMIMPS:220150 Hypouricemia, renal True False False OMIMPS:220210 Ritscher-Schinzel syndrome True False False OMIMPS:220290 Deafness, autosomal recessive True False False OMIMPS:220400 Jervell and Lange-Nielsen syndrome True False False @@ -27391,6 +27410,7 @@ OMIMPS:257920 3MC syndrome True False False OMIMPS:258150 Spermatogenic failure True False False OMIMPS:258315 Omodysplasia True False False OMIMPS:259100 Hypertropic osteoarthropathy, primary True False False +OMIMPS:259450 Bruck syndrome True False False OMIMPS:259700 Osteopetrosis, autosomal recessive True False False OMIMPS:259900 Hyperoxaluria, primary True False False OMIMPS:260370 Pancreatic agenesis True False False @@ -27492,6 +27512,7 @@ OMIMPS:601678 Bartter syndrome True False False OMIMPS:601764 Seizures, benign familial infantile True False False OMIMPS:602014 Hypomagnesemia True False False OMIMPS:602483 Auriculocondylar syndrome True False False +OMIMPS:602588 Branchiootic syndrome True False False OMIMPS:602875 Acromesomelic dysplasia True False False OMIMPS:603041 Mitochondrial DNA depletion syndrome True False False OMIMPS:603075 Macular degeneration, age-related True False False @@ -27649,7 +27670,6 @@ OMIM:300537 True False True OMIM:300551 True False True OMIM:300640 True False True OMIM:300660 True False True -OMIM:300778 True False True OMIM:300881 True False True OMIM:301590 True False True OMIM:306500 True False True diff --git a/src/ontology/reports/omim_term_exclusions.txt b/src/ontology/reports/omim_term_exclusions.txt index 0d5b26b2..6c8cc877 100644 --- a/src/ontology/reports/omim_term_exclusions.txt +++ b/src/ontology/reports/omim_term_exclusions.txt @@ -19219,3 +19219,14 @@ OMIM:620770 OMIM:620773 OMIM:620778 OMIM:620781 +OMIM:620787 +OMIM:620788 +OMIM:620791 +OMIM:620797 +OMIM:620798 +OMIM:620799 +OMIM:620800 +OMIM:620801 +OMIM:620802 +OMIM:620803 +OMIM:620804 diff --git a/src/ontology/reports/omim_unmapped_terms.tsv b/src/ontology/reports/omim_unmapped_terms.tsv index 268c365d..27c1acb6 100644 --- a/src/ontology/reports/omim_unmapped_terms.tsv +++ b/src/ontology/reports/omim_unmapped_terms.tsv @@ -1,25 +1,11 @@ subject_id subject_label -OMIMPS:602588 Branchiootic syndrome -OMIMPS:113650 Branchiootorenal syndrome -OMIMPS:259450 Bruck syndrome -OMIMPS:220150 Hypouricemia, renal +OMIMPS:215700 Citrullinemia OMIMPS:151623 Li-Fraumeni syndrome -OMIMPS:144200 Palmoplantar keratoderma, epidermolytic -OMIM:620763 corneal dystrophy, lisch epithelial -OMIM:620780 cutis laxa, autosomal recessive, type 1d -OMIM:620772 developmental and epileptic encephalopathy 113 -OMIM:620774 developmental and epileptic encephalopathy 114 -OMIM:620783 developmental and epileptic encephalopathy 115 -OMIM:620755 generalized epilepsy with febrile seizures plus, type 12 -OMIM:620779 intellectual developmental disorder, autosomal recessive 82 -OMIM:301118 intellectual developmental disorder, x-linked, syndromic 37 -OMIM:620771 jeffries-lakhani neurodevelopmental syndrome -OMIM:620762 macular dystrophy with or without cone dysfunction -OMIM:620784 neurodevelopmental disorder plus optic atrophy -OMIM:620747 neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities -OMIM:620782 neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder -OMIM:620775 neuromuscular disorder, congenital, with dysmorphic facies -OMIM:620777 pulmonary hypertension, primary, 6 -OMIM:620767 seckel syndrome 11 -OMIM:620757 thrombocytopenia 12 with or without myopathy -OMIM:620776 thrombocytopenia 13, syndromic +OMIM:620789 aplasia cutis-enamel dysplasia syndrome +OMIM:620795 autoinflammation with episodic fever and immune dysregulation +OMIM:620786 basal ganglia calcification, idiopathic, 9, autosomal recessive +OMIM:620794 deafness, autosomal recessive 124 +OMIM:620790 neurodevelopmental disorder with hypotonia and seizures +OMIM:620785 neurodevelopmental disorder with progressive movement abnormalities +OMIM:620792 otosclerosis 12 +OMIM:620796 proteasome-associated autoinflammatory syndrome 6 diff --git a/src/ontology/reports/ordo.subclass.added-obsolete.robot.tsv b/src/ontology/reports/ordo.subclass.added-obsolete.robot.tsv index 29e874bd..f0d5e3a1 100644 --- a/src/ontology/reports/ordo.subclass.added-obsolete.robot.tsv +++ b/src/ontology/reports/ordo.subclass.added-obsolete.robot.tsv @@ -115,6 +115,7 @@ MONDO:0001881 toxic shock syndrome MONDO:0015575 Orphanet:36234 Orphanet:163582 MONDO:0001945 postencephalitic Parkinson disease MONDO:0017635 Orphanet:97349 Orphanet:306666 obsolete parkinsonian syndrome due to neurodegenerative disease MONDO:0001945 postencephalitic Parkinson disease MONDO:0020141 Orphanet:97349 Orphanet:98542 obsolete infectious disease with dementia MONDO:0001971 farmer's lung disease MONDO:0020537 Orphanet:99906 Orphanet:99909 obsolete occupational allergic alveolitis +MONDO:0002013 lymphangioma MONDO:0016233 Orphanet:2415 Orphanet:211255 obsolete rare lymphatic system malformation MONDO:0002096 malignant conjunctival melanoma MONDO:0015121 Orphanet:617910 Orphanet:101950 obsolete rare eye tumor MONDO:0002145 disorder of sexual differentiation MONDO:0015106 Orphanet:90771 Orphanet:101433 obsolete rare urogenital disease MONDO:0002145 disorder of sexual differentiation MONDO:0020005 Orphanet:90771 Orphanet:97978 obsolete rare endocrine disease @@ -956,7 +957,7 @@ MONDO:0007747 isolated hyperchlorhidrosis MONDO:0019277 Orphanet:542657 Orphanet MONDO:0007756 hyperkeratosis lenticularis perstans MONDO:0019274 Orphanet:409 Orphanet:79359 obsolete other epidermal disorder MONDO:0007756 hyperkeratosis lenticularis perstans MONDO:0019275 Orphanet:409 Orphanet:79360 obsolete other genetic epidermal disease MONDO:0007757 hyperkeratosis-hyperpigmentation syndrome MONDO:0017679 Orphanet:1336 Orphanet:308031 obsolete obsolete autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature -MONDO:0007758 epidermolytic palmoplantar keratoderma MONDO:0020093 Orphanet:2199 Orphanet:98349 obsolete autosomal dominant isolated diffuse palmoplantar keratoderma +MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 MONDO:0020093 Orphanet:2199 Orphanet:98349 obsolete autosomal dominant isolated diffuse palmoplantar keratoderma MONDO:0007762 hyperlipoproteinemia type V MONDO:8000031 Orphanet:530849 Orphanet:557494 obsolete subtype of a disorder MONDO:0007764 autosomal dominant osteosclerosis, Worth type MONDO:0800084 Orphanet:2790 Orphanet:93444 obsolete primary bone dysplasia with increased bone density MONDO:0007764 autosomal dominant osteosclerosis, Worth type MONDO:8000032 Orphanet:2790 Orphanet:377789 obsolete malformation syndrome @@ -5787,6 +5788,8 @@ MONDO:0013623 platelet-type bleeding disorder 11 MONDO:8000031 Orphanet:98885 Or MONDO:0013626 psoriasis 14, pustular MONDO:0017369 Orphanet:404546 Orphanet:290839 obsolete autoinflammatory syndrome with immune deficiency MONDO:0013626 psoriasis 14, pustular MONDO:0017370 Orphanet:404546 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement MONDO:0013626 psoriasis 14, pustular MONDO:0017954 Orphanet:404546 Orphanet:324927 obsolete pyogenic autoinflammatory syndrome +MONDO:0013626 psoriasis 14, pustular MONDO:0019274 Orphanet:163931 Orphanet:79359 obsolete other epidermal disorder +MONDO:0013626 psoriasis 14, pustular MONDO:0019275 Orphanet:163931 Orphanet:79360 obsolete other genetic epidermal disease MONDO:0013626 psoriasis 14, pustular MONDO:0957404 Orphanet:404546 Orphanet:324942 obsolete pyogenic autoinflammatory syndrome of childhood MONDO:0013640 familial retinal arterial macroaneurysm MONDO:0015506 Orphanet:284247 Orphanet:156532 obsolete rare syndrome with cardiac malformations MONDO:0013640 familial retinal arterial macroaneurysm MONDO:0015953 Orphanet:284247 Orphanet:183503 obsolete genetic central nervous system and retinal vascular disease @@ -10440,6 +10443,7 @@ MONDO:0018717 mixed cystic lymphatic malformation MONDO:8000032 Orphanet:458792 MONDO:0018718 obsolete vascular tumor with associated anomalies MONDO:0016228 Orphanet:458827 Orphanet:211237 obsolete rare vascular tumor MONDO:0018719 obsolete obsolete rare capillary malformation with associated anomalies MONDO:0016231 Orphanet:458830 Orphanet:211247 capillary malformation MONDO:0018719 obsolete obsolete rare capillary malformation with associated anomalies MONDO:0018728 Orphanet:458830 Orphanet:459526 obsolete rare genetic capillary malformation +MONDO:0018720 obsolete common cystic lymphatic malformation MONDO:0002013 Orphanet:458833 Orphanet:2415 lymphangioma MONDO:0018721 obsolete rare combined vascular malformation MONDO:0019063 Orphanet:458837 Orphanet:68419 obsolete vascular anomaly MONDO:0018723 obsolete rare vascular malformation of major vessels MONDO:0019063 Orphanet:458844 Orphanet:68419 obsolete vascular anomaly MONDO:0018724 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome MONDO:0017118 Orphanet:459070 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature @@ -13370,6 +13374,8 @@ MONDO:0100429 intrahepatic cholestasis of pregnancy MONDO:0015582 Orphanet:69665 MONDO:0100450 CAPN5-related vitreoretinopathy MONDO:0034943 Orphanet:329211 Orphanet:519304 obsolete isolated vitreoretinopathy MONDO:0100462 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans MONDO:0018239 Orphanet:251262 Orphanet:364817 obsolete aggrecan-related bone disorder MONDO:0100480 autoimmune primary adrenal insufficiency MONDO:0015130 Orphanet:85138 Orphanet:101963 obsolete acquired chronic primary adrenal insufficiency +MONDO:0100491 generalized pustular psoriasis MONDO:0019274 Orphanet:247353 Orphanet:79359 obsolete other epidermal disorder +MONDO:0100491 generalized pustular psoriasis MONDO:0019275 Orphanet:247353 Orphanet:79360 obsolete other genetic epidermal disease MONDO:0100508 salivary gland type cancer of the breast MONDO:0015870 Orphanet:213557 Orphanet:180257 obsolete rare malignant breast tumor MONDO:0100512 mitochondrial DNA depletion syndrome, hepatocerebral form MONDO:0015115 Orphanet:254871 Orphanet:101940 obsolete rare genetic metabolic liver disease MONDO:0100527 dysplastic cortical hyperostosis, Kozlowski-Tsuruta type MONDO:8000031 Orphanet:2204 Orphanet:557494 obsolete subtype of a disorder @@ -13604,6 +13610,19 @@ MONDO:0958269 isolated left bronchial isomerism MONDO:8000030 Orphanet:649029 Or MONDO:0958273 cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation MONDO:8000031 Orphanet:652514 Orphanet:557494 obsolete subtype of a disorder MONDO:0958274 benign atrophic papulosis MONDO:8000031 Orphanet:656085 Orphanet:557494 obsolete subtype of a disorder MONDO:0958275 segmental spinal dysgenesis MONDO:0017085 Orphanet:656126 Orphanet:268843 obsolete malformation of the neurenteric canal, spinal cord and column +MONDO:0958342 isolated optic nerve aplasia MONDO:0020145 Orphanet:637064 Orphanet:98553 obsolete developmental defect of the eye +MONDO:0958342 isolated optic nerve aplasia MONDO:0026186 Orphanet:637064 Orphanet:183557 obsolete genetic developmental defect of the eye +MONDO:0958342 isolated optic nerve aplasia MONDO:8000030 Orphanet:637064 Orphanet:377791 obsolete morphological anomaly +MONDO:0958344 spinal dermal sinus MONDO:8000030 Orphanet:645188 Orphanet:377791 obsolete morphological anomaly +MONDO:0958346 isolated transitional filum lipoma MONDO:8000030 Orphanet:645322 Orphanet:377791 obsolete morphological anomaly +MONDO:0958347 isolated filum lipoma MONDO:8000030 Orphanet:645325 Orphanet:377791 obsolete morphological anomaly +MONDO:0958348 retained medullary cord MONDO:8000030 Orphanet:645334 Orphanet:377791 obsolete morphological anomaly +MONDO:0958349 dorsal spinal cord lipoma MONDO:8000030 Orphanet:645362 Orphanet:377791 obsolete morphological anomaly +MONDO:0958351 hemi-myeloschisis MONDO:8000031 Orphanet:645393 Orphanet:557494 obsolete subtype of a disorder +MONDO:0958352 true myeloschisis MONDO:8000031 Orphanet:645401 Orphanet:557494 obsolete subtype of a disorder +MONDO:0968955 hypocalcified amelogenesis imperfecta MONDO:8000031 Orphanet:100032 Orphanet:557494 obsolete subtype of a disorder +MONDO:0968959 isolated arhinencephaly MONDO:0016054 Orphanet:268936 Orphanet:199633 obsolete cerebral malformation +MONDO:0968959 isolated arhinencephaly MONDO:8000030 Orphanet:268936 Orphanet:377791 obsolete morphological anomaly MONDO:8000006 WHIM syndrome 1 MONDO:0018032 Orphanet:51636 Orphanet:331184 obsolete constitutional neutropenia with extra-hematopoietic manifestations MONDO:8000006 WHIM syndrome 1 MONDO:0018033 Orphanet:51636 Orphanet:331193 obsolete other immunodeficiency syndromes due to defects in innate immunity MONDO:8000008 Martsolf syndrome 1 MONDO:0015890 Orphanet:1387 Orphanet:181387 obsolete rare disorder with congenital hypogonadotropic hypogonadism diff --git a/src/ontology/reports/ordo.subclass.confirmed.robot.tsv b/src/ontology/reports/ordo.subclass.confirmed.robot.tsv index f46a499c..40671ff4 100644 --- a/src/ontology/reports/ordo.subclass.confirmed.robot.tsv +++ b/src/ontology/reports/ordo.subclass.confirmed.robot.tsv @@ -248,6 +248,7 @@ MONDO:0007410 isolated cryptophthalmia MONDO:0020153 Orphanet:91396 Orphanet:985 MONDO:0007412 Beare-Stevenson cutis gyrata syndrome MONDO:0015161 Orphanet:1555 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0007412 Beare-Stevenson cutis gyrata syndrome MONDO:0015338 Orphanet:1555 Orphanet:139393 syndromic craniosynostosis MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome MONDO:0015161 Orphanet:2674 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0007414 Gorham-Stout disease MONDO:0002013 Orphanet:73 Orphanet:2415 lymphangioma MONDO:0007428 deafness-craniofacial syndrome MONDO:0015161 Orphanet:3241 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0007435 dentatorubral-pallidoluysian atrophy MONDO:0015548 Orphanet:101 Orphanet:158266 Huntington disease-like syndrome MONDO:0007435 dentatorubral-pallidoluysian atrophy MONDO:0019794 Orphanet:101 Orphanet:94149 autosomal dominant cerebellar ataxia type IV @@ -1896,6 +1897,7 @@ MONDO:0013304 von Willebrand disease 2 MONDO:0019565 Orphanet:166081 Orphanet:90 MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency MONDO:0018479 Orphanet:95699 Orphanet:418 congenital adrenal hyperplasia MONDO:0013311 ectodermal dysplasia-syndactyly syndrome MONDO:0019287 Orphanet:247820 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome MONDO:0016894 Orphanet:261211 Orphanet:261956 partial deletion of the short arm of chromosome 16 +MONDO:0013324 lymphedema-posterior choanal atresia syndrome MONDO:0002013 Orphanet:99141 Orphanet:2415 lymphangioma MONDO:0013325 COG5-congenital disorder of glycosylation MONDO:0017750 Orphanet:263487 Orphanet:309568 defect in conserved oligomeric Golgi complex MONDO:0013327 primary hyperoxaluria type 3 MONDO:0002474 Orphanet:93600 Orphanet:416 primary hyperoxaluria MONDO:0013329 familial clubfoot due to 17q23.1q23.2 microduplication MONDO:0016046 Orphanet:238578 Orphanet:199315 familial clubfoot with or without associated lower limb anomalies @@ -2398,6 +2400,7 @@ MONDO:0015403 non-involuting congenital hemangioma MONDO:0018715 Orphanet:141179 MONDO:0015404 rapidly involuting congenital hemangioma MONDO:0018715 Orphanet:141184 Orphanet:458775 congenital hemangioma MONDO:0015406 cerebrofacial arteriovenous metameric syndrome type 1 MONDO:0015405 Orphanet:141194 Orphanet:141189 cerebrofacial arteriovenous metameric syndrome MONDO:0015407 cerebrofacial arteriovenous metameric syndrome type 3 MONDO:0015405 Orphanet:141199 Orphanet:141189 cerebrofacial arteriovenous metameric syndrome +MONDO:0015408 diffuse lymphatic malformation MONDO:0002013 Orphanet:141209 Orphanet:2415 lymphangioma MONDO:0015410 nasal dorsum fistula/cyst MONDO:0015476 Orphanet:141219 Orphanet:155835 cysts and fistulae of the face and oral cavity MONDO:0015421 orofaciodigital syndrome type 12 MONDO:0015375 Orphanet:141327 Orphanet:140997 orofaciodigital syndrome MONDO:0015422 orofaciodigital syndrome type 13 MONDO:0015375 Orphanet:141330 Orphanet:140997 orofaciodigital syndrome @@ -3697,6 +3700,7 @@ MONDO:0018716 partially involuting congenital hemangioma MONDO:0018715 Orphanet: MONDO:0018724 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome MONDO:0015159 Orphanet:459070 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0018725 corpus callosum agenesis-macrocephaly-hypertelorism syndrome MONDO:0015159 Orphanet:459074 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0018733 intellectual disability syndrome due to a DYRK1A point mutation MONDO:0013578 Orphanet:464311 Orphanet:464306 DYRK1A-related intellectual disability syndrome +MONDO:0018735 multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome MONDO:0002013 Orphanet:464321 Orphanet:2415 lymphangioma MONDO:0018746 mucous membrane pemphigoid MONDO:0019337 Orphanet:46486 Orphanet:79669 autoimmune bullous skin disease MONDO:0018747 acquired epidermolysis bullosa MONDO:0019337 Orphanet:46487 Orphanet:79669 autoimmune bullous skin disease MONDO:0018748 linear IgA Dermatosis MONDO:0019337 Orphanet:46488 Orphanet:79669 autoimmune bullous skin disease @@ -4748,5 +4752,16 @@ MONDO:0958260 dysraphic spinal cord lipoma MONDO:0001790 Orphanet:645273 Orphane MONDO:0958270 central precocious puberty in male MONDO:0019165 Orphanet:649929 Orphanet:650063 central precocious puberty MONDO:0958273 cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation MONDO:0958091 Orphanet:652514 Orphanet:652519 cleft palate-congenital heart defect-intellectual disability syndrome MONDO:0958274 benign atrophic papulosis MONDO:0958110 Orphanet:656085 Orphanet:656071 atrophic papulosis +MONDO:0958344 spinal dermal sinus MONDO:0958259 Orphanet:645188 Orphanet:645193 dysraphism with stalk +MONDO:0958345 limited dorsal myeloschisis MONDO:0958259 Orphanet:645196 Orphanet:645193 dysraphism with stalk +MONDO:0958348 retained medullary cord MONDO:0958259 Orphanet:645334 Orphanet:645193 dysraphism with stalk +MONDO:0958349 dorsal spinal cord lipoma MONDO:0958260 Orphanet:645362 Orphanet:645273 dysraphic spinal cord lipoma +MONDO:0958350 conus spinal cord lipoma MONDO:0958260 Orphanet:645367 Orphanet:645273 dysraphic spinal cord lipoma +MONDO:0958351 hemi-myeloschisis MONDO:0958076 Orphanet:645393 Orphanet:645398 myeloschisis +MONDO:0958352 true myeloschisis MONDO:0958076 Orphanet:645401 Orphanet:645398 myeloschisis +MONDO:0958353 intermediate collagen VI-related muscular dystrophy MONDO:0958077 Orphanet:646113 Orphanet:646098 collagen 6-related congenital muscular dystrophy +MONDO:0958356 primary central precocious puberty in male MONDO:0958270 Orphanet:650087 Orphanet:649929 central precocious puberty in male +MONDO:0958357 secondary central precocious puberty in male MONDO:0958270 Orphanet:650092 Orphanet:649929 central precocious puberty in male +MONDO:0968955 hypocalcified amelogenesis imperfecta MONDO:0019507 Orphanet:100032 Orphanet:88661 amelogenesis imperfecta MONDO:8000008 Martsolf syndrome 1 MONDO:0015159 Orphanet:1387 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive MONDO:0017574 Orphanet:99811 Orphanet:2978 chronic intestinal pseudoobstruction diff --git a/src/ontology/reports/ordo_mapping_status.tsv b/src/ontology/reports/ordo_mapping_status.tsv index e0a40200..0105c32f 100644 --- a/src/ontology/reports/ordo_mapping_status.tsv +++ b/src/ontology/reports/ordo_mapping_status.tsv @@ -1,9 +1,4 @@ subject_id subject_label is_mapped is_excluded is_deprecated -Orphanet:100032 Hypocalcified amelogenesis imperfecta False False False -Orphanet:163931 Acrodermatitis continua of Hallopeau False False False -Orphanet:2415 Rare lymphatic malformation False False False -Orphanet:247353 Generalized pustular psoriasis False False False -Orphanet:268936 Isolated arhinencephaly False False False Orphanet:377794 clinical group False False False Orphanet:377795 etiological subtype False False False Orphanet:377796 clinical subtype False False False @@ -48,10 +43,6 @@ Orphanet:522520 Syndromic genetic disorder with strabismus False False False Orphanet:522530 Rare genetic disorder with entropion False False False Orphanet:522562 Genetic superficial corneal dystrophy False False False Orphanet:557495 category False False False -Orphanet:637064 Isolated optic nerve aplasia False False False -Orphanet:641380 PAPASH syndrome False False False -Orphanet:645188 Spinal dermal sinus False False False -Orphanet:645196 Limited dorsal myeloschisis False False False Orphanet:645285 Chaotic conus spinal cord lipoma False False False Orphanet:645288 Terminal extramedullary conus spinal cord lipoma False False False Orphanet:645291 Transitional extramedullary conus spinal cord lipoma False False False @@ -60,22 +51,10 @@ Orphanet:645297 Extramedullary conus spinal cord lipoma False False False Orphanet:645300 Lipomatous non-saccular limited dorsal myeloschisis False False False Orphanet:645310 Fibroneural non-saccular limited dorsal myeloschisis False False False Orphanet:645319 Saccular spinal dysraphism with a stalk to the dome False False False -Orphanet:645322 Isolated transitional filum lipoma False False False -Orphanet:645325 Isolated filum lipoma False False False -Orphanet:645334 Retained medullary cord False False False Orphanet:645337 Terminal myelocystocele False False False Orphanet:645343 Non-saccular limited dorsal myeloschisis False False False Orphanet:645354 Saccular limited dorsal myeloschisis False False False -Orphanet:645362 Dorsal spinal cord lipoma False False False -Orphanet:645367 Conus spinal cord lipoma False False False Orphanet:645378 Myelic limited dorsal malformation False False False -Orphanet:645393 Hemi-myeloschisis False False False -Orphanet:645401 True myeloschisis False False False -Orphanet:646113 Intermediate collagen VI-related muscular dystrophy False False False -Orphanet:650077 Genetic central precocious puberty in female False False False -Orphanet:650082 Secondary central precocious puberty in female False False False -Orphanet:650087 Primary central precocious puberty in male False False False -Orphanet:650092 Secondary central precocious puberty in male False False False Orphanet:650097 Genetic central precocious puberty in male False False False Orphanet:650102 Non-genetic central precocious puberty in male False False False Orphanet:C003 epidemiology False False False @@ -5870,6 +5849,7 @@ Orphanet:100024 Mu-heavy chain disease True False False Orphanet:100025 Alpha-heavy chain disease True False False Orphanet:100026 Gamma-heavy chain disease True False False Orphanet:100031 Hypoplastic amelogenesis imperfecta True False False +Orphanet:100032 Hypocalcified amelogenesis imperfecta True False False Orphanet:100033 Hypomaturation amelogenesis imperfecta True False False Orphanet:100034 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism True False False Orphanet:100035 Solitary necrotic nodule of the liver True False False @@ -6794,6 +6774,7 @@ Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's Orphanet:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease True False False Orphanet:163921 Posttransplant acute limbic encephalitis True False False Orphanet:163927 Pustulosis palmaris et plantaris True False False +Orphanet:163931 Acrodermatitis continua of Hallopeau True False False Orphanet:163934 Atopic keratoconjunctivitis True False False Orphanet:163937 X-linked intellectual disability, Najm type True False False Orphanet:163956 X-linked intellectual disability, Nascimento type True False False @@ -8256,6 +8237,7 @@ Orphanet:241 Dyschromatosis universalis hereditaria True False False Orphanet:2410 Hypergonadotropic hypogonadism-cataract syndrome True False False Orphanet:2412 Dislocation of the hip-dysmorphism syndrome True False False Orphanet:2414 Congenital pulmonary lymphangiectasia True False False +Orphanet:2415 Rare lymphatic malformation True False False Orphanet:242 46,XY complete gonadal dysgenesis True False False Orphanet:2420 Primary pulmonary lymphoma True False False Orphanet:2427 Macrocephaly-short stature-paraplegia syndrome True False False @@ -8304,6 +8286,7 @@ Orphanet:247245 Superficial siderosis True False False Orphanet:247257 Inhalational anthrax True False False Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome True False False Orphanet:2473 McKusick-Kaufman syndrome True False False +Orphanet:247353 Generalized pustular psoriasis True False False Orphanet:247378 Autosomal recessive secondary polycythemia not associated with VHL gene True False False Orphanet:2475 White forelock with malformations True False False Orphanet:247511 Autosomal dominant secondary polycythemia True False False @@ -8931,6 +8914,7 @@ Orphanet:268868 Isolated amyelia True False False Orphanet:268882 Arnold-Chiari malformation type I True False False Orphanet:268920 Isolated megalencephaly True False False Orphanet:268926 Midline cerebral malformation True False False +Orphanet:268936 Isolated arhinencephaly True False False Orphanet:268940 Bilateral polymicrogyria True False False Orphanet:268943 Unilateral polymicrogyria True False False Orphanet:268947 Unilateral focal polymicrogyria True False False @@ -12586,6 +12570,7 @@ Orphanet:637 Full NF2-related schwannomatosis True False False Orphanet:637013 SMARCA2-related blepharophimosis-intellectual disability syndrome True False False Orphanet:637051 Borna virus encephalitis True False False Orphanet:637061 Isolated optic nerve hypoplasia True False False +Orphanet:637064 Isolated optic nerve aplasia True False False Orphanet:638 Neurofibromatosis-Noonan syndrome True False False Orphanet:63862 Schisis association True False False Orphanet:639 Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG True False False @@ -12599,6 +12584,7 @@ Orphanet:641361 Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac con Orphanet:641368 Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency True False False Orphanet:641372 B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) True False False Orphanet:641375 B-lymphoblastic leukemia/lymphoma with t(17;19) True False False +Orphanet:641380 PAPASH syndrome True False False Orphanet:641385 PASS syndrome True False False Orphanet:641390 PsAPASH syndrome True False False Orphanet:641396 Central nervous system tuberculosis True False False @@ -12625,16 +12611,25 @@ Orphanet:643503 Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart Orphanet:643538 Hao-Fountain syndrome due to USP7 mutation True False False Orphanet:643549 Hao-Fountain syndrome True False False Orphanet:644 NARP syndrome True False False +Orphanet:645188 Spinal dermal sinus True False False Orphanet:645193 Dysraphism with stalk True False False +Orphanet:645196 Limited dorsal myeloschisis True False False Orphanet:645202 Closed spinal dysraphism True False False Orphanet:645273 Dysraphic spinal cord lipoma True False False Orphanet:645276 Spinal cord lipoma True False False +Orphanet:645322 Isolated transitional filum lipoma True False False +Orphanet:645325 Isolated filum lipoma True False False +Orphanet:645334 Retained medullary cord True False False Orphanet:645340 Non-terminal myelocystocele True False False Orphanet:645350 Segmental arterial mediolysis True False False Orphanet:645359 Intramedullary non-dysraphic spinal cord lipoma True False False +Orphanet:645362 Dorsal spinal cord lipoma True False False +Orphanet:645367 Conus spinal cord lipoma True False False Orphanet:645383 True myelomeningocele True False False Orphanet:645388 Hemi-myelomeningocele True False False +Orphanet:645393 Hemi-myeloschisis True False False Orphanet:645398 Myeloschisis True False False +Orphanet:645401 True myeloschisis True False False Orphanet:64542 Acrofacial dysostosis, Kennedy-Teebi type True False False Orphanet:64545 Benign idiopathic neonatal seizures True False False Orphanet:645613 Classical dermatomyositis True False False @@ -12651,6 +12646,7 @@ Orphanet:645859 Primary tuberculosis of the digestive system True False False Orphanet:645874 Primary genito-urinary tuberculosis True False False Orphanet:646 Niemann-Pick disease type C True False False Orphanet:646098 Collagen VI-related congenital muscular dystrophy True False False +Orphanet:646113 Intermediate collagen VI-related muscular dystrophy True False False Orphanet:646136 Dysplastic cortical hyperostosis, Al-Gazali type True False False Orphanet:646139 Dysplastic cortical hyperostosis True False False Orphanet:646278 CDK13-related congenital heart defects-intellectual disability-facial dysmorphism syndrome True False False @@ -12707,6 +12703,10 @@ Orphanet:649929 Central precocious puberty in male True False False Orphanet:65 Leber congenital amaurosis True False False Orphanet:650 LCAT deficiency True False False Orphanet:650063 Rare central precocious puberty True False False +Orphanet:650077 Genetic central precocious puberty in female True False False +Orphanet:650082 Secondary central precocious puberty in female True False False +Orphanet:650087 Primary central precocious puberty in male True False False +Orphanet:650092 Secondary central precocious puberty in male True False False Orphanet:652 Multiple endocrine neoplasia type 1 True False False Orphanet:652487 Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome True False False Orphanet:65250 Perineural cyst True False False diff --git a/src/ontology/reports/ordo_unmapped_terms.tsv b/src/ontology/reports/ordo_unmapped_terms.tsv index c01fef9b..96100619 100644 --- a/src/ontology/reports/ordo_unmapped_terms.tsv +++ b/src/ontology/reports/ordo_unmapped_terms.tsv @@ -5,46 +5,25 @@ Orphanet:409977 1-9 / 100 000 Orphanet:409978 6-9 / 10 000 Orphanet:409979 <1 / 1 000 000 Orphanet:409980 >1 / 1000 -Orphanet:163931 Acrodermatitis continua of Hallopeau Orphanet:645285 Chaotic conus spinal cord lipoma Orphanet:522514 Congenital optic disc excavation of genetic origin -Orphanet:645367 Conus spinal cord lipoma Orphanet:519337 Disorder with optic nerve compression -Orphanet:645362 Dorsal spinal cord lipoma Orphanet:645297 Extramedullary conus spinal cord lipoma Orphanet:645310 Fibroneural non-saccular limited dorsal myeloschisis -Orphanet:247353 Generalized pustular psoriasis -Orphanet:650077 Genetic central precocious puberty in female Orphanet:650097 Genetic central precocious puberty in male Orphanet:522562 Genetic superficial corneal dystrophy -Orphanet:645393 Hemi-myeloschisis -Orphanet:100032 Hypocalcified amelogenesis imperfecta -Orphanet:646113 Intermediate collagen VI-related muscular dystrophy -Orphanet:268936 Isolated arhinencephaly -Orphanet:645325 Isolated filum lipoma -Orphanet:637064 Isolated optic nerve aplasia -Orphanet:645322 Isolated transitional filum lipoma -Orphanet:645196 Limited dorsal myeloschisis Orphanet:645300 Lipomatous non-saccular limited dorsal myeloschisis Orphanet:645378 Myelic limited dorsal malformation Orphanet:650102 Non-genetic central precocious puberty in male Orphanet:645343 Non-saccular limited dorsal myeloschisis -Orphanet:641380 PAPASH syndrome Orphanet:645294 Posterior extramedullary conus spinal cord lipoma -Orphanet:650087 Primary central precocious puberty in male Orphanet:522530 Rare genetic disorder with entropion -Orphanet:2415 Rare lymphatic malformation -Orphanet:645334 Retained medullary cord Orphanet:645354 Saccular limited dorsal myeloschisis Orphanet:645319 Saccular spinal dysraphism with a stalk to the dome -Orphanet:650082 Secondary central precocious puberty in female -Orphanet:650092 Secondary central precocious puberty in male -Orphanet:645188 Spinal dermal sinus Orphanet:522520 Syndromic genetic disorder with strabismus Orphanet:645288 Terminal extramedullary conus spinal cord lipoma Orphanet:645337 Terminal myelocystocele Orphanet:645291 Transitional extramedullary conus spinal cord lipoma -Orphanet:645401 True myeloschisis Orphanet:409981 Unknown_epidemiological_range Orphanet:409934 X-linked dominant Orphanet:409932 X-linked recessive 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 cef0a833..42ded4e1 100644 --- a/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv +++ b/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv @@ -844,7 +844,6 @@ MONDO:0001349 MONDO:0005276 True odontoclasia dental caries UNSUPPORTED-MISSING MONDO:0001351 MONDO:0002715 True uterine adnexa cancer uterine cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001352 MONDO:0001351 True round ligament malignant neoplasm uterine adnexa cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001355 MONDO:0005328 True ocular siderosis eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001356 MONDO:0006873 True iron deficiency anemia nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001357 MONDO:0002280 True hypochromic anemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001358 MONDO:0000270 True bronchial disorder lower respiratory tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001360 MONDO:0004390 True blind hypotensive eye ocular hypotension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -1114,8 +1113,6 @@ MONDO:0001635 MONDO:0000384 True bladder squamous papilloma bladder benign neopl MONDO:0001635 MONDO:0001825 True bladder squamous papilloma squamous papilloma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001636 MONDO:0001519 True mechanical entropion entropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001637 MONDO:0001519 True cicatricial entropion entropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001638 MONDO:0001639 True protein-deficiency anemia deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001639 MONDO:0002280 True deficiency anemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001640 MONDO:0003937 True gonococcal spondylitis spondylitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001641 MONDO:0005081 True severe pre-eclampsia preeclampsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001643 MONDO:0003425 True exophthalmic ophthalmoplegia ophthalmoplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -1806,7 +1803,6 @@ MONDO:0002332 MONDO:0005570 True splenic disorder hematologic disorder SUPPORTED MONDO:0002332 MONDO:0005833 True splenic disorder lymphatic system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002333 MONDO:0002332 True splenic abscess splenic disorder SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002334 MONDO:0005070 True hematopoietic and lymphoid system neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002334 MONDO:0005570 True hematopoietic and lymphoid system neoplasm hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002337 MONDO:0006500 True intra-abdominal hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002338 MONDO:0005027 True extratemporal epilepsy epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002340 MONDO:0017768 True tactile epilepsy reflex epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -5520,7 +5516,7 @@ MONDO:0005858 MONDO:0005596 True mucinous cystadenocarcinoma cystadenocarcinoma MONDO:0005859 MONDO:0011989 True mucocutaneous leishmaniasis leishmaniasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005864 MONDO:0000637 True muscle cancer musculoskeletal system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005865 MONDO:0017853 True mushroom workers' lung hypersensitivity pneumonitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005866 MONDO:0000314 True mycobacterium avium complex disease primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0005866 MONDO:0000314 True Mycobacterium avium complex disease primary bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005867 MONDO:0004652 True Mycoplasma pneumoniae pneumonia bacterial pneumonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005870 MONDO:0004664 True necatoriasis helminthiasis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005872 MONDO:0004992 True nervous system cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -6701,7 +6697,7 @@ MONDO:0007232 MONDO:0018240 True autosomal dominant brachyolmia TRPV4-related bo MONDO:0007233 MONDO:0015476 True second branchial cleft anomaly cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007235 MONDO:0000426 True branchiooculofacial syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0007235 MONDO:0015161 True branchiooculofacial syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007236 MONDO:0007029 True branchiootorenal syndrome 1 branchio-oto-renal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0007236 MONDO:0007029 True branchiootorenal syndrome 1 branchio-oto-renal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0007240 MONDO:0019490 True progressive familial heart block, type 1A progressive familial heart block UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0007243 MONDO:0004949 True Burkitt lymphoma neoplasm of mature B-cells UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0007243 MONDO:0017343 True Burkitt lymphoma Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -6778,6 +6774,7 @@ MONDO:0007355 MONDO:0003847 True uveal coloboma-cleft lip and palate-intellectua MONDO:0007355 MONDO:0015159 True uveal coloboma-cleft lip and palate-intellectual disability multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007356 MONDO:0000426 True Lynch syndrome 1 autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0007356 MONDO:0018630 True Lynch syndrome 1 hereditary nonpolyposis colon cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0007360 MONDO:0018878 True branchiootic syndrome 2 branchiootic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0007362 MONDO:0015993 True cone-rod dystrophy 2 cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0007363 MONDO:0017310 True congenital contractural arachnodactyly Marfan and Marfan-related disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007363 MONDO:0019942 True congenital contractural arachnodactyly distal arthrogryposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED @@ -6824,6 +6821,7 @@ MONDO:0007412 MONDO:0015161 True Beare-Stevenson cutis gyrata syndrome multiple MONDO:0007412 MONDO:0015338 True Beare-Stevenson cutis gyrata syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007413 MONDO:0015161 True Cyprus facial-neuromusculoskeletal syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007413 MONDO:0020120 True Cyprus facial-neuromusculoskeletal syndrome skeletal muscle disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007414 MONDO:0002013 True Gorham-Stout disease lymphangioma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007415 MONDO:0020811 True mitochondrial complex III deficiency nuclear type 1 mitochondrial complex III deficiency, nuclear type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0007416 MONDO:0001085 True Balkan nephropathy interstitial nephritis SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0007417 MONDO:0019268 True Darier disease epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -7029,7 +7027,8 @@ MONDO:0007751 MONDO:0005439 True hypercholesterolemia, autosomal dominant, type MONDO:0007753 MONDO:0001292 True Frey syndrome autonomic nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0007756 MONDO:0019268 True hyperkeratosis lenticularis perstans epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007757 MONDO:0019289 True hyperkeratosis-hyperpigmentation syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007758 MONDO:0017666 True epidermolytic palmoplantar keratoderma diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007758 MONDO:0017666 True epidermolytic palmoplantar keratoderma, 1 diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007758 MONDO:0968949 True epidermolytic palmoplantar keratoderma, 1 palmoplantar keratoderma, epidermolytic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0007762 MONDO:0001336 True hyperlipoproteinemia type V familial hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0007763 MONDO:0005086 True nonpapillary renal cell carcinoma renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0007764 MONDO:0002185 True autosomal dominant osteosclerosis, Worth type hyperostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -8557,6 +8556,7 @@ MONDO:0009796 MONDO:0017356 True ornithine aminotransferase deficiency inborn di MONDO:0009796 MONDO:0020127 True ornithine aminotransferase deficiency hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009797 MONDO:0019238 True orotic aciduria inborn disorder of pyrimidine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0009797 MONDO:0020112 True orotic aciduria vitamin B12- and folate-independent constitutional megaloblastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009806 MONDO:0017195 True Bruck syndrome 1 Bruck syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0009807 MONDO:0005089 True osteosarcoma sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009808 MONDO:0000631 True osteoid osteoma bone benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009808 MONDO:0045052 True osteoid osteoma benign osteogenic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -9688,6 +9688,7 @@ MONDO:0011255 MONDO:0015483 True mandibulofacial dysostosis-macroblepharon-macro MONDO:0011255 MONDO:0018234 True mandibulofacial dysostosis-macroblepharon-macrostomia syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011257 MONDO:0005500 True MPI-congenital disorder of glycosylation congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0011257 MONDO:0017740 True MPI-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011258 MONDO:0018878 True branchiootic syndrome 1 branchiootic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011259 MONDO:0019200 True retinitis pigmentosa 22 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0011262 MONDO:0015161 True camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011262 MONDO:0018234 True camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -10241,6 +10242,7 @@ MONDO:0012021 MONDO:0001384 True myopia 17, autosomal dominant myopia UNSUPPORTE MONDO:0012022 MONDO:0000358 True orofacial cleft 4 orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012023 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 49 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012024 MONDO:0019200 True retinitis pigmentosa 26 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012025 MONDO:0018878 True branchiootic syndrome 3 branchiootic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012030 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 43 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012031 MONDO:0000009 True platelet-type bleeding disorder 10 inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012032 MONDO:0015161 True Braddock syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -10382,6 +10384,7 @@ MONDO:0012214 MONDO:0008733 True glucocorticoid deficiency 3 familial glucocorti MONDO:0012215 MONDO:0016108 True myofibrillar myopathy 3 autosomal dominant distal myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012215 MONDO:0018943 True myofibrillar myopathy 3 myofibrillar myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012216 MONDO:0044203 True foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome foveal hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0012217 MONDO:0017195 True Bruck syndrome 2 Bruck syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012219 MONDO:0019667 True spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type spondyloepiphyseal dysplasia tarda UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0012220 MONDO:0018306 True Griscelli syndrome type 3 Griscelli syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012221 MONDO:0017779 True alpha-N-acetylgalactosaminidase deficiency type 1 alpha-N-acetylgalactosaminidase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -10643,7 +10646,7 @@ MONDO:0012571 MONDO:0016575 True primary ciliary dyskinesia 6 primary ciliary dy MONDO:0012573 MONDO:0017329 True vesicoureteral reflux 2 familial vesicoureteral reflux UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012574 MONDO:0003847 True Potocki-Lupski syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0012574 MONDO:0016950 True Potocki-Lupski syndrome partial duplication of the short arm of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012575 MONDO:0007029 True branchiootorenal syndrome 2 branchio-oto-renal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0012575 MONDO:0007029 True branchiootorenal syndrome 2 branchio-oto-renal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012576 MONDO:0019037 True supranuclear palsy, progressive, 3 progressive supranuclear palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012578 MONDO:0020836 True autism, susceptibility to, 13 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012582 MONDO:0012580 True interstitial lung disease due to ABCA3 deficiency hereditary pulmonary alveolar proteinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -10802,6 +10805,7 @@ MONDO:0012789 MONDO:0020065 True dystonia 16 combined dystonia UNSUPPORTED-MISSI MONDO:0012790 MONDO:0005144 True amyotrophic lateral sclerosis type 10 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012791 MONDO:0016796 True mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria mitochondrial DNA depletion syndrome, encephalomyopathic form UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012792 MONDO:0016796 True mitochondrial DNA depletion syndrome 8a mitochondrial DNA depletion syndrome, encephalomyopathic form UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012793 MONDO:0968951 True hypouricemia, renal, 2 hypouricemia, renal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012794 MONDO:0002254 True ANE syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0012794 MONDO:0015770 True ANE syndrome congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012794 MONDO:0018762 True ANE syndrome non-acquired combined pituitary hormone deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -11203,6 +11207,7 @@ MONDO:0013316 MONDO:0003004 True occult macular dystrophy macular degeneration U MONDO:0013320 MONDO:0016894 True chromosome 16p12.2-p11.2 deletion syndrome partial deletion of the short arm of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013322 MONDO:0000160 True epilepsy, familial adult myoclonic, 3 epilepsy, familial adult myoclonic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013323 MONDO:0009032 True cranioectodermal dysplasia 2 cranioectodermal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013324 MONDO:0002013 True lymphedema-posterior choanal atresia syndrome lymphangioma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013325 MONDO:0005501 True COG5-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013325 MONDO:0017750 True COG5-congenital disorder of glycosylation defect in conserved oligomeric Golgi complex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013326 MONDO:0017842 True Senior-Loken syndrome 7 Senior-Loken syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -11461,6 +11466,7 @@ MONDO:0013623 MONDO:0000009 True platelet-type bleeding disorder 11 inherited bl MONDO:0013624 MONDO:0019502 True Rafiq syndrome autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013625 MONDO:0008199 True Parkinson disease 17 late-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED MONDO:0013626 MONDO:0005083 True psoriasis 14, pustular psoriasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013626 MONDO:0019268 True psoriasis 14, pustular epidermal disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013626 MONDO:0019751 True psoriasis 14, pustular autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013627 MONDO:0007477 True 3M syndrome 3 3-M syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013628 MONDO:0016596 True hyperphosphatasia with intellectual disability syndrome 3 hyperphosphatasia-intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED @@ -12787,6 +12793,7 @@ MONDO:0015249 MONDO:0019817 True mitral atresia disorder congenital mitral valve MONDO:0015250 MONDO:0016113 True spinal atrophy-ophthalmoplegia-pyramidal syndrome bulbospinal muscular atrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015252 MONDO:0015159 True severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015252 MONDO:0100309 True severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome hereditary ataxia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015253 MONDO:0001705 True Diamond-Blackfan anemia pure red-cell aplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0015253 MONDO:0001713 True Diamond-Blackfan anemia inherited aplastic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0015254 MONDO:0004664 True schistosomiasis helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0015259 MONDO:0015159 True brachydactyly-mesomelia-intellectual disability-heart defects syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -12882,6 +12889,7 @@ MONDO:0015403 MONDO:0018715 True non-involuting congenital hemangioma congenital MONDO:0015404 MONDO:0018715 True rapidly involuting congenital hemangioma congenital hemangioma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015406 MONDO:0015405 True cerebrofacial arteriovenous metameric syndrome type 1 cerebrofacial arteriovenous metameric syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015407 MONDO:0015405 True cerebrofacial arteriovenous metameric syndrome type 3 cerebrofacial arteriovenous metameric syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015408 MONDO:0002013 True diffuse lymphatic malformation lymphangioma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015410 MONDO:0015476 True nasal dorsum fistula/cyst cysts and fistulae of the face and oral cavity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015411 MONDO:0019755 True facial cleft developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015413 MONDO:0015411 True median cleft of the upper lip and maxilla facial cleft UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -14021,7 +14029,7 @@ MONDO:0017345 MONDO:0017342 True Epstein-Barr virus-associated mesenchymal tumor MONDO:0017346 MONDO:0017343 True Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017346 MONDO:0018905 True Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly diffuse large B-cell lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017347 MONDO:0017343 True plasmablastic lymphoma Epstein-Barr virus-associated malignant lymphoproliferative disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017347 MONDO:0018905 True plasmablastic lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0017347 MONDO:0018905 True plasmablastic lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017348 MONDO:0017344 True lymphoepithelial-like carcinoma Epstein-Barr virus-associated carcinoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017349 MONDO:0002604 True myopericytoma pericytic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017349 MONDO:0017345 True myopericytoma Epstein-Barr virus-associated mesenchymal tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -14843,11 +14851,13 @@ MONDO:0018713 MONDO:0021121 True retiform hemangioendothelioma hemangioendotheli MONDO:0018714 MONDO:0021121 True primary intralymphatic angioendothelioma hemangioendothelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018715 MONDO:0006500 True congenital hemangioma hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018716 MONDO:0018715 True partially involuting congenital hemangioma congenital hemangioma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018717 MONDO:0002013 True mixed cystic lymphatic malformation lymphangioma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018724 MONDO:0015159 True X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018724 MONDO:0020022 True X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018725 MONDO:0015159 True corpus callosum agenesis-macrocephaly-hypertelorism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018733 MONDO:0013578 True intellectual disability syndrome due to a DYRK1A point mutation DYRK1A-related intellectual disability syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018734 MONDO:0003110 True verrucous hemangioma skin hemangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0018735 MONDO:0002013 True multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome lymphangioma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018746 MONDO:0019337 True mucous membrane pemphigoid autoimmune bullous skin disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0018747 MONDO:0006541 True acquired epidermolysis bullosa epidermolysis bullosa UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0018747 MONDO:0019337 True acquired epidermolysis bullosa autoimmune bullous skin disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -15268,7 +15278,8 @@ MONDO:0019324 MONDO:0006594 True pemphigus foliaceus pemphigus UNSUPPORTED-MISSI MONDO:0019325 MONDO:0017318 True phakomatosis cesioflammea phakomatosis pigmentovascularis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019326 MONDO:0017318 True phakomatosis cesiomarmorata phakomatosis pigmentovascularis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019327 MONDO:0017318 True phakomatosis spilorosea phakomatosis pigmentovascularis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019328 MONDO:0002013 True macrocystic lymphatic malformation lymphangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019328 MONDO:0002013 True macrocystic lymphatic malformation lymphangioma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019329 MONDO:0002013 True microcystic lymphatic malformation lymphangioma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019330 MONDO:0019278 True pili gemini hair anomaly UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019332 MONDO:0017675 True punctate palmoplantar keratoderma type 1 punctate palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019333 MONDO:0015625 True autosomal recessive hyperinsulinism due to SUR1 deficiency diazoxide-resistant diffuse hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -15769,7 +15780,7 @@ MONDO:0020320 MONDO:0015667 True acute myeloblastic leukemia with maturation acu MONDO:0020321 MONDO:0019460 True acute undifferentiated leukemia acute leukemia of ambiguous lineage UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020322 MONDO:0020743 True acute biphenotypic leukemia mixed phenotype acute leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020323 MONDO:0000951 True primary mediastinal large B-cell lymphoma thymus lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0020323 MONDO:0018905 True primary mediastinal large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0020323 MONDO:0018905 True primary mediastinal large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020324 MONDO:0018905 True intravascular large B-cell lymphoma diffuse large B-cell lymphoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020325 MONDO:0000430 True anaplastic large cell lymphoma mature T-cell and NK-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020326 MONDO:0018897 True lymphomatoid papulosis primary cutaneous CD30+ T-cell lymphoproliferative disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -16025,6 +16036,7 @@ MONDO:0020722 MONDO:0957318 True nephrolithiasis susceptibility caused by SLC26A MONDO:0020724 MONDO:0031037 True cerebral cavernous malformation 1 famililal cerebral cavernous malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020726 MONDO:0000608 True tubulointerstitial kidney disease, autosomal dominant, 2 familial juvenile hyperuricemic nephropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020726 MONDO:0008264 True tubulointerstitial kidney disease, autosomal dominant, 2 autosomal dominant medullary cystic kidney disease with or without hyperuricemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020728 MONDO:0968951 True hypouricemia, renal 1 hypouricemia, renal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020730 MONDO:0007275 True carpal tunnel syndrome 1 carpal tunnel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0020733 MONDO:0008511 True proximal symphalangism 1A proximal symphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0020735 MONDO:0009049 True ACTH-independent macronodular adrenal hyperplasia 1 Cushing syndrome due to macronodular adrenal hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -18353,7 +18365,6 @@ MONDO:0800027 MONDO:0019046 True leukoencephalopathy, diffuse hereditary, with s MONDO:0800027 MONDO:0030796 True leukoencephalopathy, diffuse hereditary, with spheroids 1 leukoencephalopathy, hereditary diffuse, with spheroids UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0800028 MONDO:0031115 True dyskinesia with orofacial involvement, autosomal dominant dyskinesia with orofacial involvement UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0800029 MONDO:0002429 True interstitial lung disease 2 idiopathic interstitial pneumonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0800029 MONDO:0002771 True interstitial lung disease 2 pulmonary fibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0800029 MONDO:0031199 True interstitial lung disease 2 inherited interstitial lung disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0800030 MONDO:0030831 True gastrointestinal defects and immunodeficiency syndrome 1 gastrointestinal defect and immunodeficiency syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0800042 MONDO:0031213 True restrictive dermopathy 1 restrictive dermopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED @@ -18716,6 +18727,7 @@ MONDO:0957284 MONDO:0018958 True nemaline myopathy 5C, autosomal dominant nemali MONDO:0957288 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 79 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0957294 MONDO:0000148 True pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 pulmonary fibrosis and/or bone marrow failure, telomere-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0957301 MONDO:0004983 True spermatogenic failure 84 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957303 MONDO:0968949 True palmoplantar keratoderma, epidermolytic, 2 palmoplantar keratoderma, epidermolytic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0957308 MONDO:0019064 True spastic paraplegia 90A, autosomal dominant hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0957309 MONDO:0019064 True spastic paraplegia 90B, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0957317 MONDO:0003847 True hematuria, benign familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -18895,6 +18907,28 @@ MONDO:0958270 MONDO:0019165 True central precocious puberty in male central prec MONDO:0958273 MONDO:0958091 True cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation cleft palate-congenital heart defect-intellectual disability syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0958274 MONDO:0958110 True benign atrophic papulosis atrophic papulosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0958277 MONDO:0019588 True hearing loss, autosomal recessive 123 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0958322 MONDO:0020119 True intellectual developmental disorder, x-linked, syndromic 37 X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0958324 MONDO:0018214 True generalized epilepsy with febrile seizures plus, type 12 generalized epilepsy with febrile seizures plus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0958325 MONDO:0100241 True thrombocytopenia 12 with or without myopathy inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0958330 MONDO:0100062 True developmental and epileptic encephalopathy 113 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0958331 MONDO:0100062 True developmental and epileptic encephalopathy 114 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0958333 MONDO:0100241 True thrombocytopenia 13, syndromic inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0958343 MONDO:0019751 True PAPASH syndrome autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0958344 MONDO:0958259 True spinal dermal sinus dysraphism with stalk UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0958345 MONDO:0958259 True limited dorsal myeloschisis dysraphism with stalk UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0958348 MONDO:0958259 True retained medullary cord dysraphism with stalk UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0958349 MONDO:0958260 True dorsal spinal cord lipoma dysraphic spinal cord lipoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0958350 MONDO:0958260 True conus spinal cord lipoma dysraphic spinal cord lipoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0958351 MONDO:0958076 True hemi-myeloschisis myeloschisis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0958352 MONDO:0958076 True true myeloschisis myeloschisis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0958353 MONDO:0958077 True intermediate collagen VI-related muscular dystrophy collagen 6-related congenital muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0958354 MONDO:0019165 True genetic central precocious puberty in female central precocious puberty UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0958355 MONDO:0019165 True secondary central precocious puberty in female central precocious puberty UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0958356 MONDO:0958270 True primary central precocious puberty in male central precocious puberty in male UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0958357 MONDO:0958270 True secondary central precocious puberty in male central precocious puberty in male UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0968944 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 82 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0968955 MONDO:0019507 True hypocalcified amelogenesis imperfecta amelogenesis imperfecta UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0968959 MONDO:0020022 True isolated arhinencephaly central nervous system malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:8000006 MONDO:0015134 True WHIM syndrome 1 constitutional neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:8000006 MONDO:0023880 True WHIM syndrome 1 WHIM syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:8000008 MONDO:0015159 True Martsolf syndrome 1 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -18928,6 +18962,7 @@ MONDO:0000045 MONDO:0018612 False hypothyroidism, congenital, nongoitrous congen MONDO:0000050 MONDO:0013099 False isolated congenital growth hormone deficiency combined pituitary hormone deficiencies, genetic form UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0000062 MONDO:0003847 False isolated microphthalmia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0000065 MONDO:0020573 False microvascular complications of diabetes, susceptibility inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000070 MONDO:0015979 False Mycobacterium tuberculosis, susceptibility hereditary predisposition to infections UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000078 MONDO:0019796 False acrocephalopolysyndactyly acrocephalosyndactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000079 MONDO:0005298 False nephrolithiasis/osteoporosis, hypophosphatemic osteoporosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0000082 MONDO:0005039 False pelvic organ prolapse reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -19460,6 +19495,7 @@ MONDO:0001352 MONDO:0045044 False round ligament malignant neoplasm ligament dis MONDO:0001353 MONDO:0037872 False Bordetella parapertussis infectious disease bordetellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001355 MONDO:0001436 False ocular siderosis hemosiderosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001356 MONDO:0000387 False iron deficiency anemia hypochromic microcytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001356 MONDO:0006873 False iron deficiency anemia nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001363 MONDO:0004884 False blind hypertensive eye eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001365 MONDO:0003276 False necrosis of ear ossicle middle ear disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001365 MONDO:0005172 False necrosis of ear ossicle skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -19550,6 +19586,8 @@ MONDO:0001624 MONDO:0020683 False acute sphenoidal sinusitis acute disease UNSUP MONDO:0001628 MONDO:0024487 False tinea unguium nail infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001631 MONDO:0020674 False vertebral artery insufficiency vascular insufficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001633 MONDO:0020673 False central retinal artery occlusion arterial occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001638 MONDO:0001639 False protein-deficiency anemia deficiency anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001639 MONDO:0002280 False deficiency anemia anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001640 MONDO:0004277 False gonococcal spondylitis gonorrhea UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001642 MONDO:0005800 False hordeolum externum hordeolum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001643 MONDO:0001509 False exophthalmic ophthalmoplegia endocrine exophthalmos UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -19796,6 +19834,7 @@ MONDO:0002328 MONDO:0003241 False intracranial hemangioma central nervous system MONDO:0002328 MONDO:0021451 False intracranial hemangioma benign neoplasm of brain UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002330 MONDO:0021698 False alcoholic psychosis alcohol-related disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002333 MONDO:0005227 False splenic abscess abscess UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0002334 MONDO:0005570 False hematopoietic and lymphoid system neoplasm hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002341 MONDO:0043494 False granulomatous angiitis arteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002350 MONDO:0100191 False familial nephrotic syndrome inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002356 MONDO:0004335 False pancreas disorder digestive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -21123,8 +21162,8 @@ MONDO:0005854 MONDO:0005554 False mixed connective tissue disease rheumatic diso MONDO:0005856 MONDO:0100329 False Mononegavirales infectious disease primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005857 MONDO:0005896 False morbillivirus infectious disease Paramyxoviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005861 MONDO:0041806 False multidrug-resistant tuberculosis drug-resistant tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005866 MONDO:0020590 False mycobacterium avium complex disease mycobacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005866 MONDO:0100120 False mycobacterium avium complex disease vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005866 MONDO:0020590 False Mycobacterium avium complex disease mycobacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005866 MONDO:0100120 False Mycobacterium avium complex disease vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005868 MONDO:0012197 False myelophthisic anemia idiopathic aplastic anemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005871 MONDO:0004664 False Nematoda infectious disease helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005874 MONDO:0024619 False neuroschistosomiasis central nervous system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21990,7 +22029,6 @@ MONDO:0007354 MONDO:0100545 False coloboma of optic nerve hereditary neurologica MONDO:0007357 MONDO:0003847 False colonic varices without portal hypertension hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007358 MONDO:0003847 False comedones, familial Dyskeratotic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007359 MONDO:0003847 False commissural lip pits hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007360 MONDO:0018878 False branchiootic syndrome 2 branchiootic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007361 MONDO:0000015 False C1 inhibitor deficiency classic complement early component deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007361 MONDO:0027749 False C1 inhibitor deficiency serpinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007362 MONDO:0019200 False cone-rod dystrophy 2 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS @@ -22026,7 +22064,6 @@ MONDO:0007403 MONDO:0005395 False inherited Creutzfeldt-Jakob disease movement d MONDO:0007406 MONDO:0003847 False cryofibrinogenemia, familial primary hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007406 MONDO:0022904 False cryofibrinogenemia, familial primary cryofibrinogenemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007408 MONDO:0003847 False cryptotia, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007414 MONDO:0002013 False Gorham-Stout disease lymphangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007414 MONDO:0003157 False Gorham-Stout disease disappearing bone disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007414 MONDO:0005554 False Gorham-Stout disease rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007416 MONDO:0005334 False Balkan nephropathy hereditary nephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23991,7 +24028,6 @@ MONDO:0009802 MONDO:0003847 False osteodysplasty, precocious, of Danks, Mayne, a MONDO:0009803 MONDO:0003847 False congenital osteogenesis imperfecta-microcephaly-cataracts syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009804 MONDO:0800064 False osteogenesis imperfecta type 3 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009805 MONDO:0800064 False osteogenesis imperfecta type 9 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009806 MONDO:0017195 False Bruck syndrome 1 Bruck syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009809 MONDO:0002254 False multicentric osteolysis, nodulosis, and arthropathy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009809 MONDO:0018298 False multicentric osteolysis, nodulosis, and arthropathy multicentric osteolysis-nodulosis-arthropathy spectrum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009811 MONDO:0003847 False osteoma of middle ear hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24362,7 +24398,7 @@ MONDO:0010276 MONDO:0003847 False radioulnar synostosis, radial ray abnormalitie MONDO:0010277 MONDO:0002320 False syndromic X-linked intellectual disability Shashi type congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010278 MONDO:0002254 False Christianson syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010280 MONDO:0000728 False ptosis, hereditary congenital 2 ptosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010282 MONDO:0000070 False mycobacterium tuberculosis, susceptibility to, X-linked mycobacterium tuberculosis, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010282 MONDO:0000070 False Mycobacterium tuberculosis, susceptibility to, X-linked Mycobacterium tuberculosis, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010283 MONDO:0002320 False syndromic X-linked intellectual disability Lubs type congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010284 MONDO:0002254 False Armfield syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010285 MONDO:0002320 False syndromic X-linked intellectual disability Abidi type congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -25059,8 +25095,6 @@ MONDO:0011254 MONDO:0003847 False brachydactyly, intraventricular septal defect, MONDO:0011256 MONDO:0003847 False emphysema, congenital, with deafness, penoscrotal web, and intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011257 MONDO:0002254 False MPI-congenital disorder of glycosylation syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011257 MONDO:0019313 False MPI-congenital disorder of glycosylation lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0011258 MONDO:0003847 False branchiootic syndrome 1 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011258 MONDO:0018878 False branchiootic syndrome 1 branchiootic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011260 MONDO:0002114 False pancreatic lymphoma, familial pancreas lymphoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011260 MONDO:0003847 False pancreatic lymphoma, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011261 MONDO:0016761 False spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -25494,8 +25528,7 @@ MONDO:0011934 MONDO:0023603 False dermatofibrosarcoma protuberans hereditary dis MONDO:0011937 MONDO:0017339 False peeling skin syndrome 4 exfoliative ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011938 MONDO:0100009 False atrial septal defect 2 structural congenital heart disease, multiple types - GATA4 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011939 MONDO:0023603 False Spondyloenchondrodysplasia with immune dysregulation hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011940 MONDO:0000070 False mycobacterium tuberculosis, susceptibility to mycobacterium tuberculosis, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011941 MONDO:0000070 False mycobacterium tuberculosis, susceptibility to, 1 mycobacterium tuberculosis, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011941 MONDO:0000070 False Mycobacterium tuberculosis, susceptibility to, 1 Mycobacterium tuberculosis, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011942 MONDO:0020573 False systemic lupus erythematosus with nephritis, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011943 MONDO:0020573 False systemic lupus erythematosus with nephritis, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011944 MONDO:0020573 False systemic lupus erythematosus with nephritis, susceptibility to, 3 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25541,8 +25574,6 @@ MONDO:0012011 MONDO:0005010 False coronary artery disease, autosomal dominant, 1 MONDO:0012011 MONDO:0100547 False coronary artery disease, autosomal dominant, 1 cardiogenetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012016 MONDO:0003847 False capillary malformation-arteriovenous malformation syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012024 MONDO:0800401 False retinitis pigmentosa 26 CERKL-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012025 MONDO:0003847 False branchiootic syndrome 3 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012025 MONDO:0018878 False branchiootic syndrome 3 branchiootic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012027 MONDO:0020573 False autoimmune disease, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012028 MONDO:0020573 False autoimmune disease, susceptibility to, 3 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012029 MONDO:0700054 False microcephaly 6, primary, autosomal recessive microcephaly 6 with or without short stature UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25662,7 +25693,6 @@ MONDO:0012215 MONDO:0015151 False myofibrillar myopathy 3 muscular dystrophy, li MONDO:0012216 MONDO:0002254 False foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012216 MONDO:0019216 False foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012216 MONDO:0020249 False foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome hereditary optic neuropathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012217 MONDO:0017195 False Bruck syndrome 2 Bruck syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012217 MONDO:0800064 False Bruck syndrome 2 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012218 MONDO:0003847 False dandy-walker malformation with occipital cephalocele, autosomal dominant hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012223 MONDO:0003847 False hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25894,7 +25924,7 @@ MONDO:0012595 MONDO:0015979 False leprosy, susceptibility to, 4 hereditary predi MONDO:0012597 MONDO:0023122 False prostate cancer, hereditary, 9 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012599 MONDO:0020573 False hypertension, essential, susceptibility to, 8 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012604 MONDO:0016764 False isolated microphthalmia 3 isolated anophthalmia-microphthalmia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012606 MONDO:0000070 False mycobacterium tuberculosis, susceptibility to, 2 mycobacterium tuberculosis, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012606 MONDO:0000070 False Mycobacterium tuberculosis, susceptibility to, 2 Mycobacterium tuberculosis, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012607 MONDO:0010940 False asthma-related traits, susceptibility to, 5 inherited susceptibility to asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012609 MONDO:0015140 False Alzheimer disease 12 early-onset autosomal dominant Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012611 MONDO:0100545 False polyhydramnios, megalencephaly, and symptomatic epilepsy hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26002,7 +26032,6 @@ MONDO:0012788 MONDO:0020573 False coronary heart disease, susceptibility to, 9 i MONDO:0012789 MONDO:0021095 False dystonia 16 parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012790 MONDO:0017161 False amyotrophic lateral sclerosis type 10 frontotemporal dementia with motor neuron disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012791 MONDO:0002254 False mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0012793 MONDO:0009071 False hypouricemia, renal, 2 hereditary renal hypouricemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012794 MONDO:0002051 False ANE syndrome integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012795 MONDO:0003847 False hypophosphatemic rickets and hyperparathyroidism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012798 MONDO:0003847 False deafness, unilateral, with delayed endolymphatic hydrops hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26143,7 +26172,7 @@ MONDO:0013041 MONDO:0035290 False atypical hemolytic-uremic syndrome with I fact MONDO:0013042 MONDO:0035290 False atypical hemolytic-uremic syndrome with B factor anomaly atypical hemolytic uremic syndrome with complement gene abnormality UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013043 MONDO:0035290 False atypical hemolytic-uremic syndrome with C3 anomaly atypical hemolytic uremic syndrome with complement gene abnormality UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013044 MONDO:0035290 False atypical hemolytic-uremic syndrome with thrombomodulin anomaly atypical hemolytic uremic syndrome with complement gene abnormality UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013045 MONDO:0000070 False mycobacterium tuberculosis, susceptibility to, 3 mycobacterium tuberculosis, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013045 MONDO:0000070 False Mycobacterium tuberculosis, susceptibility to, 3 Mycobacterium tuberculosis, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013046 MONDO:0017688 False glycogen storage disease due to muscle beta-enolase deficiency disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013047 MONDO:0017688 False glycogen storage disease due to lactate dehydrogenase M-subunit deficiency disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013050 MONDO:0003847 False lethal polymalformative syndrome, Boissel type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26318,7 +26347,6 @@ MONDO:0013318 MONDO:0003847 False early repolarization associated with ventricul MONDO:0013319 MONDO:0003847 False chromosome 4Q32.1-q32.2 triplication syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013319 MONDO:0016955 False chromosome 4Q32.1-q32.2 triplication syndrome partial duplication of the long arm of chromosome 4 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013321 MONDO:0003847 False forsythe-wakeling syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013324 MONDO:0002013 False lymphedema-posterior choanal atresia syndrome lymphangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013324 MONDO:0003847 False lymphedema-posterior choanal atresia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013325 MONDO:0002254 False COG5-congenital disorder of glycosylation syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013330 MONDO:0003847 False agenesis of the corpus callosum and congenital lymphedema hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26463,7 +26491,6 @@ MONDO:0013618 MONDO:0003847 False craniofacial anomalies and anterior segment dy MONDO:0013619 MONDO:0019006 False nephrotic syndrome, type 6 familial idiopathic steroid-resistant nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013620 MONDO:0020344 False congenital myasthenic syndrome 16 postsynaptic congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013620 MONDO:0100121 False congenital myasthenic syndrome 16 SCN4A-related myopathy, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013626 MONDO:0019268 False psoriasis 14, pustular epidermal disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013626 MONDO:0023603 False psoriasis 14, pustular hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013627 MONDO:0800063 False 3M syndrome 3 primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013631 MONDO:0015356 False lung cancer susceptibility 5 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27301,7 +27328,6 @@ MONDO:0015248 MONDO:0002254 False ataxia-photosensitivity-short stature syndrome MONDO:0015249 MONDO:0003767 False mitral atresia disorder mitral valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015249 MONDO:0005453 False mitral atresia disorder congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015252 MONDO:0002320 False severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015253 MONDO:0001705 False Diamond-Blackfan anemia pure red-cell aplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015254 MONDO:0100120 False schistosomiasis vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015257 MONDO:0007263 False sino-auricular heart block cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015260 MONDO:0042488 False diphyllobothriasis Cestode infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27394,7 +27420,6 @@ MONDO:0015396 MONDO:0004382 False congenital laryngeal cyst laryngeal disorder U MONDO:0015397 MONDO:0007712 False craniofacial microsomia oculoauriculovertebral spectrum with radial defects UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0015397 MONDO:0021635 False craniofacial microsomia neurocristopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015405 MONDO:0001256 False cerebrofacial arteriovenous metameric syndrome arteriovenous hemangioma/malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015408 MONDO:0002013 False diffuse lymphatic malformation lymphangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015409 MONDO:0021147 False isolated congenital syngnathia disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015409 MONDO:0024623 False isolated congenital syngnathia otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015411 MONDO:0023369 False facial cleft disorder of facial skeleton UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28576,7 +28601,7 @@ MONDO:0017827 MONDO:0002217 False malignant peripheral nerve sheath tumor centra MONDO:0017827 MONDO:0100342 False malignant peripheral nerve sheath tumor malignant glioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017829 MONDO:0000426 False autosomal dominant proximal renal tubular acidosis autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017829 MONDO:0019052 False autosomal dominant proximal renal tubular acidosis inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017832 MONDO:0020590 False mycobacterium xenopi infection mycobacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017832 MONDO:0020590 False Mycobacterium xenopi infection mycobacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017837 MONDO:0002242 False multiple sclerosis-ichthyosis-factor VIII deficiency syndrome coagulation protein disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017837 MONDO:0002243 False multiple sclerosis-ichthyosis-factor VIII deficiency syndrome hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017837 MONDO:0002254 False multiple sclerosis-ichthyosis-factor VIII deficiency syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29058,11 +29083,9 @@ MONDO:0018702 MONDO:0007179 False Castleman-Kojima disease autoimmune disease UN MONDO:0018703 MONDO:0021147 False isolated splenogonadal fusion disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018709 MONDO:0020119 False X-linked intellectual disability-hypotonia-movement disorder syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018710 MONDO:0014863 False megalencephaly-severe kyphoscoliosis-overgrowth syndrome macrocephaly, dysmorphic facies, and psychomotor retardation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018717 MONDO:0002013 False mixed cystic lymphatic malformation lymphangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018724 MONDO:0002320 False X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018724 MONDO:0016761 False X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018724 MONDO:0100545 False X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018735 MONDO:0002013 False multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome lymphangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018736 MONDO:0024296 False kaposiform lymphangiomatosis vascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018737 MONDO:8000010 False catastrophic antiphospholipid syndrome antiphospholipid syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018738 MONDO:0002513 False benign metanephric tumor kidney benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29148,6 +29171,7 @@ MONDO:0018866 MONDO:0023603 False Aicardi-Goutieres syndrome hereditary disorder MONDO:0018870 MONDO:0003847 False arterial calcification of infancy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018875 MONDO:0100545 False Li-Fraumeni syndrome hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018877 MONDO:0007639 False retinitis punctata albescens fundus albipunctatus UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018878 MONDO:0003847 False branchiootic syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018882 MONDO:0021166 False vasculitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018883 MONDO:0021147 False Berardinelli-Seip congenital lipodystrophy disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018885 MONDO:0021220 False orbital leiomyoma eye neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29449,7 +29473,6 @@ MONDO:0019313 MONDO:0005385 False lymphatic malformation vascular disorder UNSUP MONDO:0019313 MONDO:0019175 False lymphatic malformation primary lymphedema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019321 MONDO:0021147 False atypical Werner syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019322 MONDO:0008219 False pemphigus vegetans pemphigus vulgaris UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019329 MONDO:0002013 False microcystic lymphatic malformation lymphangioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019333 MONDO:0009734 False autosomal recessive hyperinsulinism due to SUR1 deficiency hyperinsulinemic hypoglycemia, familial, 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019334 MONDO:0011153 False autosomal recessive hyperinsulinism due to Kir6.2 deficiency hyperinsulinemic hypoglycemia, familial, 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019336 MONDO:0005328 False Gardner syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30144,7 +30167,6 @@ MONDO:0020723 MONDO:0009924 False vitamin D-dependent rickets, type 1A vitamin D MONDO:0020723 MONDO:0800096 False vitamin D-dependent rickets, type 1A abnormal mineralization disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020725 MONDO:0002280 False anemia due to chronic disorder anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020727 MONDO:0014471 False combined oxidative phosphorylation deficiency 22 mitochondrial proton-transporting ATP synthase complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0020728 MONDO:0009071 False hypouricemia, renal 1 hereditary renal hypouricemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020729 MONDO:0011096 False autosomal recessive agammaglobulinemia 1 autosomal agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020731 MONDO:0005108 False arbovirus infection viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020731 MONDO:0100120 False arbovirus infection vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33052,6 +33074,7 @@ MONDO:0800026 MONDO:0021635 False central hypoventilation syndrome, congenital, MONDO:0800026 MONDO:0100545 False central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800028 MONDO:0005395 False dyskinesia with orofacial involvement, autosomal dominant movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800028 MONDO:0100545 False dyskinesia with orofacial involvement, autosomal dominant hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800029 MONDO:0002771 False interstitial lung disease 2 pulmonary fibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0800029 MONDO:0100137 False interstitial lung disease 2 telomere syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800030 MONDO:0002254 False gastrointestinal defects and immunodeficiency syndrome 1 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800031 MONDO:0003847 False central hypoventilation syndrome, congenital hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33355,7 +33378,6 @@ MONDO:0957271 MONDO:0019751 False autoinflammatory disease, systemic, with vascu MONDO:0957271 MONDO:0023603 False autoinflammatory disease, systemic, with vasculitis hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957273 MONDO:0019548 False Charcot-Marie-Tooth disease, dominant intermediate A autosomal dominant intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957279 MONDO:0021944 False auditory neuropathy, autosomal dominant 2 auditory neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0957303 MONDO:0003847 False palmoplantar keratoderma, epidermolytic, 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957307 MONDO:0003847 False woolly hair-skin fragility syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957314 MONDO:0019200 False retinitis pigmentosa 97 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0957318 MONDO:0008171 False nephrolithiasis, calcium oxalate nephrolithiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33480,6 +33502,21 @@ MONDO:0958275 MONDO:0002320 False segmental spinal dysgenesis congenital nervous MONDO:0958275 MONDO:0002545 False segmental spinal dysgenesis spinal cord disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0958278 MONDO:0700092 False neurodevelopmental disorder with hypotonia and characteristic brain abnormalities neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0958279 MONDO:0002254 False megalencephaly-polydactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0958323 MONDO:0100500 False neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0958326 MONDO:0020242 False macular dystrophy with or without cone dysfunction hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0958328 MONDO:0019342 False Seckel syndrome 11 Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0958329 MONDO:0100500 False Jeffries-Lakhani neurodevelopmental syndrome Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0958332 MONDO:0100546 False neuromuscular disorder, congenital, with dysmorphic facies hereditary neuromuscular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0958334 MONDO:0017148 False pulmonary hypertension, primary, 6 heritable pulmonary arterial hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0958335 MONDO:0019572 False cutis laxa, autosomal recessive, type 1d autosomal recessive cutis laxa type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0958342 MONDO:0002135 False isolated optic nerve aplasia optic nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0958346 MONDO:0958260 False isolated transitional filum lipoma dysraphic spinal cord lipoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0958347 MONDO:0958260 False isolated filum lipoma dysraphic spinal cord lipoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0968945 MONDO:0100500 False neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0968946 MONDO:0100062 False developmental and epileptic encephalopathy 115 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0968947 MONDO:0100500 False neurodevelopmental disorder plus optic atrophy Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0968949 MONDO:0019272 False palmoplantar keratoderma, epidermolytic hereditary palmoplantar keratoderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0968951 MONDO:0009071 False hypouricemia, renal hereditary renal hypouricemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:1030001 MONDO:0020573 False epilepsy, juvenile absence, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:8000010 MONDO:0002254 False antiphospholipid syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:8000014 MONDO:0000426 False familial antiphospholipid syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING diff --git a/src/ontology/slurp/doid.tsv b/src/ontology/slurp/doid.tsv index a9b88bb5..02d8b4f2 100644 --- a/src/ontology/slurp/doid.tsv +++ b/src/ontology/slurp/doid.tsv @@ -1,16 +1,16 @@ 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:0958281 mitochondrial complex v (atp synthase) deficiency nuclear type 4 DOID:0060333 MONDO:equivalentTo mitochondrial complex V (ATP synthase) deficiency nuclear type 4 MONDO:0014471 -MONDO:0958282 dystonia 28 childhood-onset DOID:0060936 MONDO:equivalentTo dystonia 28 childhood-onset MONDO:0003441|MONDO:0000426 +MONDO:0958282 dystonia 28, childhood-onset DOID:0060936 MONDO:equivalentTo dystonia 28, childhood-onset MONDO:0003441|MONDO:0000426 MONDO:0958283 dystonia 30 DOID:0060937 MONDO:equivalentTo dystonia 30 MONDO:0003441|MONDO:0000426 MONDO:0958284 dystonia 31 DOID:0060938 MONDO:equivalentTo dystonia 31 MONDO:0003441|MONDO:0006025 MONDO:0958285 dystonia 32 DOID:0060939 MONDO:equivalentTo dystonia 32 MONDO:0003441|MONDO:0006025 -MONDO:0958286 dystonia 33 DOID:0060940 MONDO:equivalentTo dystonia 33 MONDO:0003441|MONDO:0000426 -MONDO:0958287 episodic kinesigenic dyskinesia 3 DOID:0060944 MONDO:equivalentTo episodic kinesigenic dyskinesia 3 MONDO:0003441|MONDO:0000426 +MONDO:0958286 dystonia 33 DOID:0060940 MONDO:equivalentTo dystonia 33 MONDO:0003441|MONDO:0006025|MONDO:0000426 +MONDO:0958287 ullrich congenital muscular dystrophy 2 DOID:0060944 MONDO:equivalentTo Ullrich congenital muscular dystrophy 2 MONDO:0000355 MONDO:0958288 dystonia 35, childhood-onset DOID:0060955 MONDO:equivalentTo dystonia 35, childhood-onset MONDO:0003441|MONDO:0006025 MONDO:0958289 dystonia 37, early-onset with striatal lesions DOID:0060956 MONDO:equivalentTo dystonia 37, early-onset with striatal lesions MONDO:0003441|MONDO:0006025 MONDO:0958290 myoclonic dystonia 34 DOID:0060957 MONDO:equivalentTo myoclonic dystonia 34 MONDO:0003441|MONDO:0000426 -MONDO:0958291 dystonia, dopa-responsive DOID:0060963 MONDO:equivalentTo dystonia, DOPA-responsive MONDO:0003441|MONDO:0000426 +MONDO:0958291 dystonia, dopa-responsive DOID:0060963 MONDO:equivalentTo dystonia, DOPA-responsive MONDO:0006025|MONDO:0003441|MONDO:0000426 MONDO:0958292 dystonia 22, juvenile-onset DOID:0060966 MONDO:equivalentTo dystonia 22, juvenile-onset MONDO:0003441|MONDO:0006025 MONDO:0958293 dystonia 22, adult-onset DOID:0060967 MONDO:equivalentTo dystonia 22, adult-onset MONDO:0003441|MONDO:0006025 MONDO:0958294 halperin-birk syndrome DOID:0070539 MONDO:equivalentTo Halperin-Birk syndrome MONDO:0006025|MONDO:0002254 @@ -42,3 +42,17 @@ MONDO:0958319 congenital kyphosis DOID:4668 MONDO:equivalentTo congenital kyphos MONDO:0958320 postural kyphosis DOID:9373 MONDO:equivalentTo postural kyphosis MONDO:0958359 childhood spinal muscular atrophy DOID:0060160 MONDO:equivalentTo childhood spinal muscular atrophy MONDO:0001516 MONDO:0958360 cholesterol-ester transfer protein deficiency DOID:0111368 MONDO:equivalentTo cholesterol-ester transfer protein deficiency MONDO:0002525 +MONDO:0968961 interstitial lung disease 1 DOID:0060941 MONDO:equivalentTo interstitial lung disease 1 MONDO:0000426|MONDO:0015925|MONDO:0006025 +MONDO:0968962 ullrich congenital muscular dystrophy 1b DOID:0060942 MONDO:equivalentTo Ullrich congenital muscular dystrophy 1B MONDO:0000355 +MONDO:0968963 ullrich congenital muscular dystrophy 1c DOID:0060943 MONDO:equivalentTo Ullrich congenital muscular dystrophy 1C MONDO:0000355 +MONDO:0968964 amelogenesis imperfecta type 1k DOID:0060945 MONDO:equivalentTo amelogenesis imperfecta type 1K MONDO:0019507 +MONDO:0968965 ullrich congenital muscular dystrophy 1a DOID:0060946 MONDO:equivalentTo Ullrich congenital muscular dystrophy 1A An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the COL6A1 gene on chromosome 21q22. MONDO:0000355 +MONDO:0968966 autosomal recessive intellectual developmental disorder 82 DOID:0060947 MONDO:equivalentTo autosomal recessive intellectual developmental disorder 82 An autosomal recessive intellectual developmental disorder characterized by global developmental delay with motor and speech delay, variably impaired intellectual development, and behavioral abnormalities has_material_basis_in homozygous mutation in the NSUN6 gene on chromosome 10p12. MONDO:0019502 +MONDO:0968967 sickle cell disease DOID:0081445 MONDO:equivalentTo sickle cell disease A blood protein disease that is characterized by chronic hemolytic anemia and intermittent vaso-occlusive events that result in tissue ischemia leading to acute and chronic pain as well as organ damage that can affect any organ system, resulting from the replacement of one of the beta-globin subunits in hemoglobin with atypical hemoglobin molecules called hemoglobin S which can distort red blood cells into a sickle or crescent shape. Sickle cell disease subtypes should include a detailed genotypic description for the hemoglobin molecules (e.g., Hb S/S, Hb S/C, Hb S/β0-thalassemia). MONDO:0003804 +MONDO:0968968 dimethylglycine dehydrogenase deficiency DOID:0081446 MONDO:equivalentTo dimethylglycine dehydrogenase deficiency An amino acid metabolic disorder that is characterized by a fish-like odor, chronic fatigue, and increased level of the muscle form of creatine kinase in serum and that has_material_basis_in homozygous mutation in the DMGDH on chromosome 5q14. MONDO:0004736|MONDO:0006025 +MONDO:0968969 cone-rod dystrophy 21 DOID:0081447 MONDO:equivalentTo cone-rod dystrophy 21 A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DRAM2 gene on chromosome 1p13. MONDO:0006025|MONDO:0015993 +MONDO:0968970 cone-rod dystrophy 22 DOID:0081448 MONDO:equivalentTo cone-rod dystrophy 22 A cone-rod dystrophy that is characterized by loss of central vision due to cone photoreceptor degeneration, with onset of symptoms ranging from the first to fifth decades of life and that has_material_basis_in homozygous mutation in the TLCD3B gene on chromosome 16p11. MONDO:0006025|MONDO:0015993 +MONDO:0968971 cone-rod dystrophy 24 DOID:0081449 MONDO:equivalentTo cone-rod dystrophy 24 A cone-rod dystrophy that is characterized by night blindness, defective color vision, and reduced visual acuity and that has_material_basis_in heterozygous mutation in the UNC119 gene on chromosome 17q11. MONDO:0000426|MONDO:0015993 +MONDO:0968972 hyperimmunoglobulinemia d periodic fever syndrome DOID:0081450 MONDO:equivalentTo hyperimmunoglobulinemia D periodic fever syndrome A hyperimmunoglobulin syndrome that is characterized as periodic fever from early infancy accompanied by elevated serum C-reactive protein and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding mevalonate kinase (MVK) on chromosome 12q24. MONDO:0002468 +MONDO:0968973 pfapa syndrome DOID:0081451 MONDO:equivalentTo PFAPA syndrome An autoimmune disease that is characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis. MONDO:0007179 +MONDO:0968974 large b-cell lymphoma DOID:0081452 MONDO:equivalentTo large B-cell lymphoma A B-cell lymphoma that is characterized by large lymphoid cells of the B-cell lineage that by definition form sheets or clusters. MONDO:0004095 diff --git a/src/ontology/slurp/ncit.tsv b/src/ontology/slurp/ncit.tsv index 87391196..15427860 100644 --- a/src/ontology/slurp/ncit.tsv +++ b/src/ontology/slurp/ncit.tsv @@ -911,7 +911,7 @@ MONDO:0856691 uterine corpus degenerated leiomyoma NCIT:C3511 MONDO:equivalentTo MONDO:0856703 eyelid vascular disorder NCIT:C35198 MONDO:equivalentTo Eyelid Vascular Disorder MONDO:0856706 placental polyp NCIT:C3521 MONDO:equivalentTo Placental Polyp MONDO:0021498|MONDO:0005079 MONDO:0856715 chondromatosis NCIT:C35259 MONDO:equivalentTo Chondromatosis MONDO:0024470 -MONDO:0856716 malignant submandibular gland neoplasm NCIT:C3526 MONDO:equivalentTo Malignant Submandibular Gland Neoplasm MONDO:0021244|MONDO:0044743 +MONDO:0856716 malignant submandibular gland neoplasm NCIT:C3526 MONDO:equivalentTo Malignant Submandibular Gland Neoplasm MONDO:0044743|MONDO:0021244 MONDO:0856723 malignant palate neoplasm NCIT:C3530 MONDO:equivalentTo Malignant Palate Neoplasm MONDO:0005515|MONDO:0005286 MONDO:0856758 malignant neoplasm of multiple primary sites NCIT:C35427 MONDO:equivalentTo Malignant Neoplasm of Multiple Primary Sites MONDO:0004992 MONDO:0856764 behavioral disorder NCIT:C35470 MONDO:equivalentTo Behavioral Disorder diff --git a/src/ontology/slurp/omim.tsv b/src/ontology/slurp/omim.tsv index 9a7cf1c4..1fa75226 100644 --- a/src/ontology/slurp/omim.tsv +++ b/src/ontology/slurp/omim.tsv @@ -1,26 +1,12 @@ 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:0958322 intellectual developmental disorder, x-linked, syndromic 37 OMIM:301118 MONDO:equivalentTo intellectual developmental disorder, x-linked, syndromic 37 MONDO:0020119 -MONDO:0958323 neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities OMIM:620747 MONDO:equivalentTo neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities -MONDO:0958324 generalized epilepsy with febrile seizures plus, type 12 OMIM:620755 MONDO:equivalentTo generalized epilepsy with febrile seizures plus, type 12 MONDO:0018214 -MONDO:0958325 thrombocytopenia 12 with or without myopathy OMIM:620757 MONDO:equivalentTo thrombocytopenia 12 with or without myopathy MONDO:0100241 -MONDO:0958326 macular dystrophy with or without cone dysfunction OMIM:620762 MONDO:equivalentTo macular dystrophy with or without cone dysfunction -MONDO:0958327 corneal dystrophy, lisch epithelial OMIM:620763 MONDO:equivalentTo corneal dystrophy, lisch epithelial -MONDO:0958328 seckel syndrome 11 OMIM:620767 MONDO:equivalentTo seckel syndrome 11 -MONDO:0958329 jeffries-lakhani neurodevelopmental syndrome OMIM:620771 MONDO:equivalentTo jeffries-lakhani neurodevelopmental syndrome -MONDO:0958330 developmental and epileptic encephalopathy 113 OMIM:620772 MONDO:equivalentTo developmental and epileptic encephalopathy 113 MONDO:0100062 -MONDO:0958331 developmental and epileptic encephalopathy 114 OMIM:620774 MONDO:equivalentTo developmental and epileptic encephalopathy 114 MONDO:0100062 -MONDO:0958332 neuromuscular disorder, congenital, with dysmorphic facies OMIM:620775 MONDO:equivalentTo neuromuscular disorder, congenital, with dysmorphic facies -MONDO:0958333 thrombocytopenia 13, syndromic OMIM:620776 MONDO:equivalentTo thrombocytopenia 13, syndromic MONDO:0100241 -MONDO:0958334 pulmonary hypertension, primary, 6 OMIM:620777 MONDO:equivalentTo pulmonary hypertension, primary, 6 -MONDO:0958335 cutis laxa, autosomal recessive, type 1d OMIM:620780 MONDO:equivalentTo cutis laxa, autosomal recessive, type 1d MONDO:0100237 -MONDO:0968944 intellectual developmental disorder, autosomal recessive 82 OMIM:620779 MONDO:equivalentTo intellectual developmental disorder, autosomal recessive 82 MONDO:0019502 -MONDO:0968945 neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder OMIM:620782 MONDO:equivalentTo neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder -MONDO:0968946 developmental and epileptic encephalopathy 115 OMIM:620783 MONDO:equivalentTo developmental and epileptic encephalopathy 115 -MONDO:0968947 neurodevelopmental disorder plus optic atrophy OMIM:620784 MONDO:equivalentTo neurodevelopmental disorder plus optic atrophy -MONDO:0968948 branchiootorenal syndrome OMIMPS:113650 MONDO:equivalentTo Branchiootorenal syndrome -MONDO:0968949 palmoplantar keratoderma, epidermolytic OMIMPS:144200 MONDO:equivalentTo Palmoplantar keratoderma, epidermolytic MONDO:0968950 li-fraumeni syndrome OMIMPS:151623 MONDO:equivalentTo Li-Fraumeni syndrome -MONDO:0968951 hypouricemia, renal OMIMPS:220150 MONDO:equivalentTo Hypouricemia, renal -MONDO:0968952 bruck syndrome OMIMPS:259450 MONDO:equivalentTo Bruck syndrome -MONDO:0968953 branchiootic syndrome OMIMPS:602588 MONDO:equivalentTo Branchiootic syndrome +MONDO:0968976 neurodevelopmental disorder with progressive movement abnormalities OMIM:620785 MONDO:equivalentTo neurodevelopmental disorder with progressive movement abnormalities +MONDO:0968977 basal ganglia calcification, idiopathic, 9, autosomal recessive OMIM:620786 MONDO:equivalentTo basal ganglia calcification, idiopathic, 9, autosomal recessive +MONDO:0968978 aplasia cutis-enamel dysplasia syndrome OMIM:620789 MONDO:equivalentTo aplasia cutis-enamel dysplasia syndrome +MONDO:0968979 neurodevelopmental disorder with hypotonia and seizures OMIM:620790 MONDO:equivalentTo neurodevelopmental disorder with hypotonia and seizures +MONDO:0968980 otosclerosis 12 OMIM:620792 MONDO:equivalentTo otosclerosis 12 MONDO:0005349 +MONDO:0968981 deafness, autosomal recessive 124 OMIM:620794 MONDO:equivalentTo deafness, autosomal recessive 124 MONDO:0019588 +MONDO:0968982 autoinflammation with episodic fever and immune dysregulation OMIM:620795 MONDO:equivalentTo autoinflammation with episodic fever and immune dysregulation +MONDO:0968983 proteasome-associated autoinflammatory syndrome 6 OMIM:620796 MONDO:equivalentTo proteasome-associated autoinflammatory syndrome 6 MONDO:0009726 +MONDO:0968984 citrullinemia OMIMPS:215700 MONDO:equivalentTo Citrullinemia diff --git a/src/ontology/slurp/ordo.tsv b/src/ontology/slurp/ordo.tsv index 11ebfe49..f28dc071 100644 --- a/src/ontology/slurp/ordo.tsv +++ b/src/ontology/slurp/ordo.tsv @@ -5,24 +5,9 @@ MONDO:0958338 congenital optic disc excavation of genetic origin Orphanet:522514 MONDO:0958339 syndromic genetic disorder with strabismus Orphanet:522520 MONDO:equivalentTo Syndromic genetic disorder with strabismus MONDO:8000033 MONDO:0958340 rare genetic disorder with entropion Orphanet:522530 MONDO:equivalentTo Rare genetic disorder with entropion MONDO:8000033 MONDO:0958341 genetic superficial corneal dystrophy Orphanet:522562 MONDO:equivalentTo Genetic superficial corneal dystrophy MONDO:8000033 -MONDO:0958342 isolated optic nerve aplasia Orphanet:637064 MONDO:equivalentTo Isolated optic nerve aplasia A rare developmental defect during embryogenesis characterized by congenital absence of the optic nerve head, optic nerve fibers, retinal ganglion cells, and retinal blood vessels in a malformed eye. It often occurs unilaterally with otherwise normal brain development. In bilateral cases it is accompanied by other central nervous system malformations. MONDO:0026186|MONDO:0020145|MONDO:8000034|MONDO:8000030 -MONDO:0958343 papash syndrome Orphanet:641380 MONDO:equivalentTo PAPASH syndrome MONDO:0000001|MONDO:8000034 -MONDO:0958344 spinal dermal sinus Orphanet:645188 MONDO:equivalentTo Spinal dermal sinus A rare closed dysraphism with stalk characterized by a dorsal midline dermal sinus tract lined by keratinizing stratified squamous epithelium extending to the the intrathecal space. Other components such as hair follicles and shafts, mesenchymal derivatives (blood vessels and fibrous tissue) and occasionally nerve fibers can be observed. Inflamed granulation tissue containing mixed neutrophils, plasma cells, lymphocytes, and histiocytes is consistently found in the tract. It can also be associated with an intradural dermoid cyst. This malformation is at risk to cause intrathecal infections (meningitis, empyema) that justify a prophylactic surgery. MONDO:0958259|MONDO:8000034|MONDO:8000030 -MONDO:0958345 limited dorsal myeloschisis Orphanet:645196 MONDO:equivalentTo Limited dorsal myeloschisis A rare dysraphic abnormality characterized by a persistent connection between the neural tissue and overlying skin. The stalk-like connection consists of a fibroneural tract (mainly composed of fibrous attenuated mesenchymal tissue and neural elements without an epithelial lining) connecting the skin lesion to the underlying dorsal surface of the spinal cord. Fibroneural stalk varies in thickness and complexity and they pass through the deep fascia, a bifid lamina/ the interspinous ligament, and the dura. It can be associated with filum anomaly. Chiari II malformation is not present. MONDO:0958259|MONDO:8000033 -MONDO:0958346 isolated transitional filum lipoma Orphanet:645322 MONDO:equivalentTo Isolated transitional filum lipoma A rare dysraphic abnormality characterized by the infiltration of fatty tissue localized in the filum terminale, with abnormal conus shape. The spinal cord is typically attenuated and the limit between its end and the fatty filum is hard to distinguish. There are no additional spinal cord malformation, but it can be associated with vertebral abnormalities, anorectal malformation or other syndromic condition. It is named transitional for its intermediate image between an isolated filum lipoma and a terminal conus region lipoma. MONDO:8000034|MONDO:8000030 -MONDO:0958347 isolated filum lipoma Orphanet:645325 MONDO:equivalentTo Isolated filum lipoma A rare dysraphic abnormality characterized by the infiltration of fatty tissue localized in the filum terminale, thickens and loses its flexibility, with normal conus shape, regardless of conus level. There is no other spinal cord malformation associated, but it can be associated with extraspinal malformation (ex: anorectal malformation) or syndromic situation. MONDO:8000034|MONDO:8000030 -MONDO:0958348 retained medullary cord Orphanet:645334 MONDO:equivalentTo Retained medullary cord A rare closed dysraphism with terminal stalk characterized by persistant rudimentary spinal cord below conus. It contains non-functional neural tissue and is typically isolated. The diagnostic is suggested by attenuated conus without fat, further confirmed by pathological analysis (glioneuronal core with ependyma-lined lumen, nerve roots, and dorsal root ganglia). Differential diagnostic with intraoperative neurophysiological monitoring is mandatory as neuroimaging fails to distinguish it from functional conus. MONDO:0958259|MONDO:8000034|MONDO:8000030 -MONDO:0958349 dorsal spinal cord lipoma Orphanet:645362 MONDO:equivalentTo Dorsal spinal cord lipoma A rare lipomatous, dysraphic malformation characterized by attachment to the dorsal surface of the spinal cord but not extending to the conus. It can be associated with others features such as a stalk and vertebral bone abnormalities. MONDO:0958260|MONDO:8000034|MONDO:8000030 -MONDO:0958350 conus spinal cord lipoma Orphanet:645367 MONDO:equivalentTo Conus spinal cord lipoma A rare lipomatous, dysraphic malformation characterized by lipoma located wholly or partially at the conus. MONDO:0958260|MONDO:8000033 -MONDO:0958351 hemi-myeloschisis Orphanet:645393 MONDO:equivalentTo Hemi-myeloschisis A very rare form of composite dysraphism characterized by the presence of a split cord malformation and a myeloschisis on one of the two hemicords. Hemicords can be in a single dural sac or in two separated dural sacs. Other spinal cord malformations can be associated. Due to the comparable prognosis it is considered as a subtype of myeloschisis. MONDO:0958076|MONDO:8000031 -MONDO:0958352 true myeloschisis Orphanet:645401 MONDO:equivalentTo True myeloschisis A rare open neural tube defect characterized by no other malformation than myeloschisis (spina bifida with a neural placode exposed at or below the skin plane and Chiari II malformation). MONDO:0958076|MONDO:8000031 -MONDO:0958353 intermediate collagen vi-related muscular dystrophy Orphanet:646113 MONDO:equivalentTo Intermediate collagen VI-related muscular dystrophy MONDO:8000034|MONDO:0958077|MONDO:0000001 -MONDO:0958354 genetic central precocious puberty in female Orphanet:650077 MONDO:equivalentTo Genetic central precocious puberty in female MONDO:8000034|MONDO:0000001 -MONDO:0958355 secondary central precocious puberty in female Orphanet:650082 MONDO:equivalentTo Secondary central precocious puberty in female MONDO:0000001|MONDO:8000034 -MONDO:0958356 primary central precocious puberty in male Orphanet:650087 MONDO:equivalentTo Primary central precocious puberty in male MONDO:8000034|MONDO:0000001|MONDO:0958270 -MONDO:0958357 secondary central precocious puberty in male Orphanet:650092 MONDO:equivalentTo Secondary central precocious puberty in male MONDO:0958270|MONDO:8000034|MONDO:0000001 -MONDO:0968955 hypocalcified amelogenesis imperfecta Orphanet:100032 MONDO:equivalentTo Hypocalcified amelogenesis imperfecta MONDO:8000031|MONDO:0019507 -MONDO:0968956 acrodermatitis continua of hallopeau Orphanet:163931 MONDO:equivalentTo Acrodermatitis continua of Hallopeau A rare, genetic, chronic, recurrent, slowly progressive, epidermal disease characterized by small, sterile, pustular eruptions, involving the nails and surrounding skin of the fingers and/or toes, which coalesce and burst, leaving erythematous, atrophic skin where new pustules develop. Onychodystrophy is frequently associated and anonychia and osteolysis are reported in severe cases. Local expansion (to involve the hands, forearms and/or feet) and involvement of mucosal surfaces (e.g. conjunctiva, tongue, urethra) may be observed. MONDO:8000034|MONDO:0000001|MONDO:0019275|MONDO:0019274 -MONDO:0968957 rare lymphatic malformation Orphanet:2415 MONDO:equivalentTo Rare lymphatic malformation MONDO:0016233|MONDO:8000033 -MONDO:0968958 generalized pustular psoriasis Orphanet:247353 MONDO:equivalentTo Generalized pustular psoriasis Generalized pustular psoriasis is a severe inflammatory skin disease that can be life-threatening and that is characterized by recurrent episodes of high fever, fatigue, episodic erythematous cutaneous eruptions with sterile cutaneous pustules formation on various parts of the body, and neutrophil leukocytosis. MONDO:0019274|MONDO:0000001|MONDO:0019275|MONDO:8000034 -MONDO:0968959 isolated arhinencephaly Orphanet:268936 MONDO:equivalentTo Isolated arhinencephaly Isolated arhinencephaly is a rare non-syndromic central nervous system malformation defined by the agenesis of the olfactory bulbs and tracts and characterized by complete congenital anosmia. MONDO:0016054|MONDO:8000034|MONDO:8000030 +MONDO:0968986 chaotic conus spinal cord lipoma Orphanet:645285 MONDO:equivalentTo Chaotic conus spinal cord lipoma A rare dysraphic spinal cord lipoma characterized by the lipomatous mass extending ventrally to the dorsal root entry zone, indicating a more severe malformation of the spinal cord. The diagnosis can be suggested on imaging but usually confirmed during surgery. MONDO:0958350|MONDO:8000034|MONDO:8000030 +MONDO:0968987 extramedullary conus spinal cord lipoma Orphanet:645297 MONDO:equivalentTo Extramedullary conus spinal cord lipoma A rare closed lipomatous, dysraphic malformation of the lower spinal cord characterized by extramedullary lipomatous mass attached to the conus region. The conus is dysplastic and poorly delineated. Various morphological subtypes are recognized. Possible symptoms include bowel and bladder dysfunction and neuro-orthopedic deformity of the lower limbs. MONDO:0958350|MONDO:8000034|MONDO:8000030 +MONDO:0968988 saccular spinal dysraphism with a stalk to the dome Orphanet:645319 MONDO:equivalentTo Saccular spinal dysraphism with a stalk to the dome A rare spinal dysraphism characterized by a meningocele, containing a stalk, that is attached to the inner surface of the meningocele. The stalk can be posteriorly fibroneural (saccular limited dorsal myeloschisis) or the spinal cord itself (myelic limited dorsal malformation). MONDO:0958345|MONDO:8000033|MONDO:0017069 +MONDO:0968989 non-saccular limited dorsal myeloschisis Orphanet:645343 MONDO:equivalentTo Non-saccular limited dorsal myeloschisis A rare form of limited dorsal myeloschisis (LDM), characterized by a non saccular cutaneous stigmata (midline skin abnormality classically dimple, pit or sometimes angioma), the stalk is attached to this cutaneous stigmata. Fibroneural stalk varies in thickness and complexity. MONDO:0958345|MONDO:8000030|MONDO:8000034 +MONDO:0968990 genetic central precocious puberty in male Orphanet:650097 MONDO:equivalentTo Genetic central precocious puberty in male MONDO:8000031|MONDO:0958356 +MONDO:0968991 non-genetic central precocious puberty in male Orphanet:650102 MONDO:equivalentTo Non-genetic central precocious puberty in male MONDO:0958356|MONDO:8000031 diff --git a/src/ontology/unmapped/doid-unmapped.owl b/src/ontology/unmapped/doid-unmapped.owl index b0c3275f..1a47819c 100644 --- a/src/ontology/unmapped/doid-unmapped.owl +++ b/src/ontology/unmapped/doid-unmapped.owl @@ -63,12 +63,48 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -249,6 +285,54 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + diff --git a/src/ontology/unmapped/omim-unmapped.owl b/src/ontology/unmapped/omim-unmapped.owl index 8e4d6f34..93fa8de1 100644 --- a/src/ontology/unmapped/omim-unmapped.owl +++ b/src/ontology/unmapped/omim-unmapped.owl @@ -3087,6 +3087,12 @@ + + + + + + @@ -3759,6 +3765,12 @@ + + + + + + @@ -7755,6 +7767,12 @@ + + + + + + @@ -9272,8 +9290,8 @@ ACO2 + aconitase 2 aconitase, mitochondrial - aconm ACO2 @@ -37414,6 +37432,7 @@ IDH2 isocitrate dehydrogenase 2 + isocitrate dehydrogenase, nadp(+), 2 isocitrate dehydrogenase, nadp(+)-specific, mitochondrial IDH2 @@ -37579,7 +37598,7 @@ IDH1 - isocitrate dehydrogenase 1 + isocitrate dehydrogenase, nadp(+), 1 isocitrate dehydrogenase, nadp(+)-dependent, cytosolic isocitrate dehydrogenase, nadp(+)-specific, soluble peroxisomal isocitrate dehydrogenase @@ -40999,6 +41018,7 @@ MDH2 + malate dehydrogenase 2 malate dehydrogenase, mitochondrial MDH2 @@ -41023,6 +41043,7 @@ MDH1 alpha-keto acid reductase aromatic alpha-keto acid reductase + malate dehydrogenase 1 malate dehydrogenase, cytoplasmic malate dehydrogenase, soluble MDH1 @@ -43593,6 +43614,7 @@ mll/cip29 fusion gene mll/enl fusion gene mll/fbp17 fusion gene + mll/fryl fusion gene mll/gmps fusion gene mll/gph fusion gene mll/graf fusion gene @@ -53457,7 +53479,7 @@ - + PSMB9 @@ -54240,6 +54262,7 @@ PDHB pyruvate dehydrogenase complex, e1 beta polypeptide + pyruvate dehydrogenase e1, subunit beta pyruvate dehydrogenase, beta polypeptide PDHB @@ -54262,6 +54285,7 @@ PDHA2 + pyruvate dehydrogenase e1, subunit alpha-2 pyruvate dehydrogenase, alpha-2 pyruvate dehydrogenase, e1-alpha polypeptide, testis-specific PDHA2 @@ -58636,7 +58660,8 @@ SDHB sdh2, homolog of succinate dehydrogenase 2, s. cerevisiae, homolog of - succinate dehydrogenase complex, subunit b, iron sulfur protein + succinate dehydrogenase complex, iron-sulfur subunit B + succinate dehydrogenase complex, subunit b, iron-sulfur protein SDHB @@ -64417,6 +64442,7 @@ + TCN1D cobalamin pseudodeficiency due to transcobalamin deficiency cobalamin r binder protein deficiency r binder deficiency with lactoferrin deficiency @@ -69429,6 +69455,7 @@ + @@ -86625,6 +86652,7 @@ + TCN2D tc 2 deficiency tcn2 deficiency transcobalamin 2 deficiency @@ -93695,6 +93723,7 @@ pdha pdhce1a pyruvate dehydrogenase complex, e1-alpha polypeptide 1 + pyruvate dehydrogenase e1, subunit alpha-1 pyruvate dehydrogenase, alpha-1 PDHA1 @@ -115150,6 +115179,7 @@ SDHA sdh1, homolog of succinate dehydrogenase 1, s. cerevisiae, homolog of + succinate dehydrogenase complex, flavoprotein subunit a succinate dehydrogenase complex, subunit a, flavoprotein SDHA @@ -118540,6 +118570,7 @@ IDH3A icdm isocitrate dehydrogenase 3, alpha subunit + isocitrate dehydrogenase, nad(+), 3, catalytic subunit alpha isocitrate dehydrogenase, nad(+)-specific, mitochondrial, alpha subunit IDH3A @@ -123135,6 +123166,30 @@ + + + + + + + + + + + + + + + + FOSL2 + fos-like 2, ap-1 transcription factor subunit + fos-like antigen 2 + fos-related antigen 2 + FOSL2 + + + + @@ -129058,29 +129113,6 @@ - - - - - - - - - - - - - - - - MYO9B - myosin 9b - myosin, rat, homolog of - MYO9B - - - - @@ -131635,6 +131667,7 @@ SDHC succinate dehydrogenase 3, integral membrane subunit + succinate dehydrogenase complex, subunit c succinate dehydrogenase complex, subunit c, integral membrane protein, 15-kd succinate dehydrogenase cytochrome B SDHC @@ -134259,6 +134292,7 @@ SDHD succinate dehydrogenase 4, integral membrane protein + succinate dehydrogenase complex, subunit d succinate dehydrogenase complex, subunit d, integral membrane protein SDHD @@ -138819,6 +138853,12 @@ + + + + + + SMARCA4 brm/swi2-related gene 1 snf2-beta @@ -140925,6 +140965,7 @@ + CTLN2 citrin deficiency citrullinemia, type ii, adult-onset @@ -145191,7 +145232,7 @@ SUCLA2 a-beta atp-specific succinyl-coa synthetase, beta subunit - succinate-coa ligase, adp-forming, beta subunit + succinate-coa ligase, adp-forming, subunit beta SUCLA2 @@ -150833,6 +150874,7 @@ IDH3B isocitrate dehydrogenase 3, beta subunit + isocitrate dehydrogenase, nad(+), 3, noncatalytic subunit beta isocitrate dehydrogenase, nad(+)-specific, mitochondrial, beta subunit IDH3B @@ -161297,6 +161339,7 @@ + cholestasis, neonatal intrahepatic, caused by citrin deficiency citrullinemia, type ii, neonatal-onset citrullinemia, type ii, neonatal-onset, with or without failure to thrive and dyslipidemia @@ -162725,8 +162768,8 @@ protein phosphatase, magnesium-dependent, 2, catalytic subunit protein phosphatase, magnesium-dependent, 2c pyruvate dehydrogenase phosphatase - pyruvate dehydrogenase phosphatase catalytic subunit 1 pyruvate dehydrogenase phosphatase, catalytic subunit + pyruvate dehydrogenase phosphatase, catalytic subunit 1 PDP1 @@ -179516,6 +179559,29 @@ + + + + + + + + + + + + + + + + PKHD1L1 + fibrocystin-l + pkhd1-like 1 + PKHD1L1 + + + + @@ -196762,10 +196828,22 @@ + + + + + + - + + + + + + + CELIAC4 @@ -208548,8 +208626,9 @@ SUCLG1 g-alpha succinate-coa ligase, adp-forming, alpha subunit - succinate-coa ligase, alpha subunit succinate-coa ligase, gdp-forming, alpha subunit + succinate-coa ligase, gdp/adp-forming, subunit alpha + succinyl-coa synthetase, alpha subunit SUCLG1 @@ -212828,6 +212907,29 @@ + + + + + + + + + + + + + + + + SHARPIN + shank-associated rh domain interactor + shank-interacting protein-like 1 + SHARPIN + + + + @@ -214078,6 +214180,31 @@ + + + + + + + + + + + + + + + + OTUD7A + cezanne2 + chromosome 16 open reading frame 15 + otu domain-containing protein 7a + otud7 + OTUD7A + + + + @@ -224757,6 +224884,7 @@ + GABATD gaba-transaminase deficiency gaba-transaminase deficiency @@ -236703,6 +236831,29 @@ + + + + + + + + + + + + + + + + NAA60 + n-alpha-acetyltransferase 60, natf catalytic subunit + nat15 + NAA60 + + + + @@ -248253,10 +248404,11 @@ - FAME5 - cortical myoclonic tremor with epilepsy, familial, 5 - epilepsy, familial adult myoclonic, 5 - epilepsy, familial adult myoclonic, 5 + EPEO5 + cortical myoclonic tremor with epilepsy, familial, 5, formerly + epilepsy, early-onset, 5, with or without developmental delay + epilepsy, familial adult myoclonic, 5, formerly + epilepsy, early-onset, 5, with or without developmental delay @@ -257543,6 +257695,28 @@ + + + + + + + + + + + + + + + + ACBD6 + acyl-coa-binding domain-containing protein 6 + ACBD6 + + + + @@ -267526,12 +267700,6 @@ - - - - - - @@ -295192,6 +295360,131 @@ + + + + + + + + + + NEDPM + neurodevelopmental disorder with progressive movement abnormalities + neurodevelopmental disorder with progressive movement abnormalities + + + + + + + + + + + + + + IBGC9 + basal ganglia calcification, idiopathic, 9, autosomal recessive + basal ganglia calcification, idiopathic, 9, autosomal recessive + + + + + + + + + + + + + + ACED + aplasia cutis-enamel dysplasia syndrome + aplasia cutis-enamel dysplasia syndrome + + + + + + + + + + + + + + NEDHS + neurodevelopmental disorder with hypotonia and seizures + neurodevelopmental disorder with hypotonia and seizures + + + + + + + + + OTSC12 + otosclerosis 12 + otosclerosis 12 + + + + + + + + + + + + + + + DFNB124 + deafness, autosomal recessive 124 + deafness, autosomal recessive 124 + + + + + + + + + + + + + + AIFID + autoinflammation with episodic fever and immune dysregulation + autoinflammation with episodic fever and immune dysregulation + + + + + + + + + + + + + + + PRAAS6 + proteasome-associated autoinflammatory syndrome 6 + proteasome-associated autoinflammatory syndrome 6 + + + + @@ -297231,6 +297524,14 @@ + + + + Citrullinemia + + + +