diff --git a/docs/metrics/doid.md b/docs/metrics/doid.md index 8ce96f37..e31e0a02 100644 --- a/docs/metrics/doid.md +++ b/docs/metrics/doid.md @@ -2,17 +2,17 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/doid.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-05-28/doid.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-06-01/doid.owl ### Entities and axioms | Metric | Value | | ------ | ----- | | Annotation properties | 27 | -| Axioms | 115971 | -| Logical axioms | 16110 | -| Classes | 13099 | -| Object properties | 2 | +| Axioms | 110948 | +| Logical axioms | 16161 | +| Classes | 13124 | +| Object properties | 0 | | Data properties | 0 | | Individuals | 0 | @@ -32,11 +32,11 @@ | Metric | Value | | ------ | ----- | -| AnnotationAssertion | 86733 | +| AnnotationAssertion | 81636 | | SubAnnotationPropertyOf | 1 | | DisjointClasses | 26 | -| Declaration | 13127 | -| SubClassOf | 16084 | +| Declaration | 13150 | +| SubClassOf | 16135 | #### Entity namespaces: axiom counts by namespace @@ -45,12 +45,11 @@ | ------ | ----- | | oboInOwl | 12 | | owl | 2 | -| DOID | 11552 | +| DOID | 11577 | | HP | 118 | | xsd | 1 | | CL | 63 | | skos | 5 | -| BFO | 2 | | rdfs | 2 | | FOODON | 24 | | NCBITaxon | 322 | @@ -71,7 +70,7 @@ | Metric | Value | | ------ | ----- | -| Class | 45479 | +| Class | 45606 | 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 a0bd8e70..92990939 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/2024-05-28/gard.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-06-01/gard.owl ### Entities and axioms diff --git a/docs/metrics/icd10cm.md b/docs/metrics/icd10cm.md index 0798fe79..903bf12e 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/2024-05-28/icd10cm.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-06-01/icd10cm.owl ### Entities and axioms diff --git a/docs/metrics/icd10who.md b/docs/metrics/icd10who.md index be35d3d9..19f21359 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/2024-05-28/icd10who.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-06-01/icd10who.owl ### Entities and axioms diff --git a/docs/metrics/icd11foundation.md b/docs/metrics/icd11foundation.md index 849ea685..123a3ac2 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/2024-05-28/icd11foundation.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-06-01/icd11foundation.owl ### Entities and axioms diff --git a/docs/metrics/ncit.md b/docs/metrics/ncit.md index 877eb789..b7255f2b 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/2024-05-28/ncit.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-06-01/ncit.owl ### Entities and axioms diff --git a/docs/metrics/omim.md b/docs/metrics/omim.md index 84c63607..8144a6e9 100644 --- a/docs/metrics/omim.md +++ b/docs/metrics/omim.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/omim.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-05-28/omim.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-06-01/omim.owl ### Entities and axioms diff --git a/docs/metrics/ordo.md b/docs/metrics/ordo.md index 5b8042cd..94080afb 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/2024-05-28/ordo.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-06-01/ordo.owl ### Entities and axioms diff --git a/docs/reports/migrate.md b/docs/reports/migrate.md index 51a3449f..53f0a6ce 100644 --- a/docs/reports/migrate.md +++ b/docs/reports/migrate.md @@ -2,7 +2,7 @@ | Ontology | Tot | |:------------------------------------------------|:-------| | [GARD](./migrate_gard.md) | 9,370 | -| [DOID](./migrate_doid.md) | 8 | +| [DOID](./migrate_doid.md) | 34 | | [NCIT](./migrate_ncit.md) | 2,209 | | [OMIM](./migrate_omim.md) | 13 | | [ICD11FOUNDATION](./migrate_icd11foundation.md) | 12,409 | diff --git a/docs/reports/migrate_doid.md b/docs/reports/migrate_doid.md index ef434615..b674c8a1 100644 --- a/docs/reports/migrate_doid.md +++ b/docs/reports/migrate_doid.md @@ -2,14 +2,40 @@ [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: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:0968993 | aleutian mink disease | DOID:2934 | MONDO:equivalentTo | aleutian mink disease | | MONDO:0005108 | -| MONDO:0968994 | borna disease | DOID:5154 | MONDO:equivalentTo | borna disease | | MONDO:0005108|MONDO:0002602 | \ 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: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:0968993 | aleutian mink disease | DOID:2934 | MONDO:equivalentTo | aleutian mink disease | | MONDO:0005108 | +| MONDO:0968994 | borna disease | DOID:5154 | MONDO:equivalentTo | borna disease | | MONDO:0005108|MONDO:0002602 | +| MONDO:0970966 | ullrich congenital muscular dystrophy 2 | DOID:0060948 | MONDO:equivalentTo | Ullrich congenital muscular dystrophy 2 | | MONDO:0000355 | +| MONDO:0970967 | 3-hydroxyisobutryl-coa hydrolase deficiency | DOID:0060949 | MONDO:equivalentTo | 3-hydroxyisobutryl-CoA hydrolase deficiency | | MONDO:0006025|MONDO:0004736 | +| MONDO:0970968 | hypervalinemia and hyperleucine-isoleucinemia | DOID:0060950 | MONDO:equivalentTo | hypervalinemia and hyperleucine-isoleucinemia | An amino acid metabolic characterized by highly elevated plasma valine and leucine concentrations that has_material_basis_in compound heterozygous mutation in the BCAT2 gene on chromosome 19q13. | MONDO:0004736|MONDO:0006025 | +| MONDO:0970969 | polycystic kidney disease 6 | DOID:0060951 | MONDO:equivalentTo | polycystic kidney disease 6 | An autosomal dominant polycystic kidney disease characterized by the development of multiple small renal cysts and progression to renal insufficiency or end-stage renal disease (ESRD) most often after the sixth decade that has_material_basis_in heterozygous mutation in the DNAJB11 gene on chromosome 3q27. | MONDO:0004691 | +| MONDO:0970970 | polycystic kidney disease 7 | DOID:0060952 | MONDO:equivalentTo | polycystic kidney disease 7 | A autosomal dominant polycystic kidney disease characterized by the development of small kidney cysts and renal interstitial fibrosis causing adult-onset progressive loss of kidney function leading to end-stage kidney disease after around 60 years of age that has_material_basis_in heterozygous mutation in the ALG5 gene on chromosome 13q13. | MONDO:0004691 | +| MONDO:0970971 | zttk syndrome | DOID:0060953 | MONDO:equivalentTo | ZTTK syndrome | | MONDO:0000426|MONDO:0002254 | +| MONDO:0970972 | holoprosencephaly 13, x-linked | DOID:0060954 | MONDO:equivalentTo | Holoprosencephaly 13, X-linked | | MONDO:0016296|MONDO:0020605|MONDO:0020604 | +| MONDO:0970973 | orofaciodigital syndrome xiv | DOID:0060958 | MONDO:equivalentTo | orofaciodigital syndrome XIV | | MONDO:0015375|MONDO:0006025 | +| MONDO:0970974 | orofaciodigital syndrome ii | DOID:0060959 | MONDO:equivalentTo | orofaciodigital syndrome II | | MONDO:0015375|MONDO:0006025 | +| MONDO:0970975 | orofaciodigital syndrome xix | DOID:0060960 | MONDO:equivalentTo | orofaciodigital syndrome XIX | | MONDO:0015375|MONDO:0006025 | +| MONDO:0970976 | orofaciodigital syndrome xviii | DOID:0060961 | MONDO:equivalentTo | orofaciodigital syndrome XVIII | | MONDO:0015375|MONDO:0006025 | +| MONDO:0970977 | orofaciodigital syndrome xx | DOID:0060962 | MONDO:equivalentTo | orofaciodigital syndrome XX | | MONDO:0015375|MONDO:0006025 | +| MONDO:0970978 | loeys-dietz syndrome 6 | DOID:0060964 | MONDO:equivalentTo | Loeys-Dietz syndrome 6 | | MONDO:0018954 | +| MONDO:0970979 | episodic ataxia type 9 | DOID:0060965 | MONDO:equivalentTo | episodic ataxia type 9 | | MONDO:0016227|MONDO:0000426 | +| MONDO:0970980 | hypotrichosis 15 | DOID:0060968 | MONDO:equivalentTo | hypotrichosis 15 | | MONDO:0003037|MONDO:0006025 | +| MONDO:0970981 | galactosemia 4 | DOID:0060969 | MONDO:equivalentTo | galactosemia 4 | | MONDO:0018116 | +| MONDO:0970982 | cornelia de lange syndrome 6 | DOID:0060970 | MONDO:equivalentTo | Cornelia de Lange syndrome 6 | | MONDO:0016033|MONDO:0000426 | +| MONDO:0970983 | mitochondrial short-chain enoyl-coa hydratase 1 deficiency | DOID:0070540 | MONDO:equivalentTo | mitochondrial short-chain enoyl-CoA hydratase 1 deficiency | | MONDO:0004736|MONDO:0002525|MONDO:0004069|MONDO:0006025 | +| MONDO:0970984 | 3-hydroxy-3-methylglutaryl-coa lyase deficiency | DOID:0070541 | MONDO:equivalentTo | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency | | MONDO:0004736|MONDO:0006025 | +| MONDO:0970985 | neurodevelopmental disorder with spastic paraplegia and microcephaly | DOID:0070542 | MONDO:equivalentTo | neurodevelopmental disorder with spastic paraplegia and microcephaly | | MONDO:0019502|MONDO:0004736 | +| MONDO:0970986 | neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities | DOID:0070543 | MONDO:equivalentTo | neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities | | MONDO:0004736|MONDO:0004069|MONDO:0006025 | +| MONDO:0970987 | congenital glutamine deficiency | DOID:0070544 | MONDO:equivalentTo | congenital glutamine deficiency | | MONDO:0004736|MONDO:0006025 | +| MONDO:0970988 | developmental and epileptic encephalopathy 116 | DOID:0070545 | MONDO:equivalentTo | developmental and epileptic encephalopathy 116 | | MONDO:0004736|MONDO:0100062|MONDO:0000426 | +| MONDO:0970989 | dent disease 1 | DOID:0081453 | MONDO:equivalentTo | Dent disease 1 | A Dent disease that is characterized by manifestations of complex proximal tubule dysfunction with low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure and that has_material_basis_in mutation in the CLCN5 gene on chromosome Xp11. Extra-renal involvement is absent. | MONDO:0015612 | +| MONDO:0970990 | dent disease 2 | DOID:0081454 | MONDO:equivalentTo | Dent disease 2 | A Dent disease that is characterized by low molecular weight proteinuria and other features of Fanconi syndrome but typically do not include proximal renal tubular acidosis and that has_material_basis_in mutation in the OCRL gene on chromosome Xq26. | MONDO:0015612 | +| MONDO:0970991 | papilledema | DOID:146 | MONDO:equivalentTo | papilledema | | MONDO:0002135 | \ No newline at end of file diff --git a/docs/reports/migrate_ncit.md b/docs/reports/migrate_ncit.md index f3594bf1..7c98aafc 100644 --- a/docs/reports/migrate_ncit.md +++ b/docs/reports/migrate_ncit.md @@ -875,7 +875,7 @@ | 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:0044743|MONDO:0021244 | +| MONDO:0856716 | malignant submandibular gland neoplasm | NCIT:C3526 | MONDO:equivalentTo | Malignant Submandibular Gland Neoplasm | | MONDO:0021244|MONDO:0044743 | | 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/unmapped.md b/docs/reports/unmapped.md index edaec69e..c17b97c8 100644 --- a/docs/reports/unmapped.md +++ b/docs/reports/unmapped.md @@ -7,8 +7,8 @@ | [ICD11FOUNDATION](./unmapped_icd11foundation.md) | 100,382 | 30,335 | 6,587 | 6,587 | 64,451 | 0 | 64,451 | 100.0% | | [GARD](./unmapped_gard.md) | 12,004 | 0 | 0 | 0 | 12,004 | 0 | 12,004 | 100.0% | | [ORDO](./unmapped_ordo.md) | 15,402 | 6,212 | 1,391 | 1,166 | 9,190 | 9,127 | 63 | 0.7% | +| [DOID](./unmapped_doid.md) | 14,058 | 2,655 | 2,483 | 2,468 | 11,401 | 11,367 | 34 | 0.3% | | [OMIM](./unmapped_omim.md) | 29,346 | 19,253 | 1,364 | 1,317 | 8,730 | 8,712 | 18 | 0.2% | -| [DOID](./unmapped_doid.md) | 14,033 | 2,655 | 2,483 | 2,468 | 11,376 | 11,368 | 8 | 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 6c58be99..6397b37d 100644 --- a/docs/reports/unmapped_doid.md +++ b/docs/reports/unmapped_doid.md @@ -2,13 +2,39 @@ [Interactive FlatGithub table](https://flatgithub.com/monarch-initiative/mondo-ingest?filename=src/ontology/reports/doid_mapping_status.tsv) ### Unmapped mappable terms _(!excluded, !deprecated)_ -| subject_id | subject_label | -|:-------------|:-----------------------------------------------------------------| -| DOID:2934 | aleutian mink disease | -| DOID:5154 | borna disease | -| DOID:0060160 | childhood spinal muscular atrophy | -| DOID:0111368 | cholesterol-ester transfer protein deficiency | -| DOID:2536 | chronic inflammatory demyelinating polyneuritis | -| DOID:4668 | congenital kyphosis | -| DOID:0060333 | mitochondrial complex V (ATP synthase) deficiency nuclear type 4 | -| DOID:9373 | postural kyphosis | \ No newline at end of file +| subject_id | subject_label | +|:-------------|:-------------------------------------------------------------------------------------| +| DOID:0070541 | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency | +| DOID:0060949 | 3-hydroxyisobutryl-CoA hydrolase deficiency | +| DOID:0060970 | Cornelia de Lange syndrome 6 | +| DOID:0081453 | Dent disease 1 | +| DOID:0081454 | Dent disease 2 | +| DOID:0060954 | Holoprosencephaly 13, X-linked | +| DOID:0060964 | Loeys-Dietz syndrome 6 | +| DOID:0060948 | Ullrich congenital muscular dystrophy 2 | +| DOID:0060953 | ZTTK syndrome | +| DOID:2934 | aleutian mink disease | +| DOID:5154 | borna disease | +| DOID:0060160 | childhood spinal muscular atrophy | +| DOID:0111368 | cholesterol-ester transfer protein deficiency | +| DOID:2536 | chronic inflammatory demyelinating polyneuritis | +| DOID:0070544 | congenital glutamine deficiency | +| DOID:4668 | congenital kyphosis | +| DOID:0070545 | developmental and epileptic encephalopathy 116 | +| DOID:0060965 | episodic ataxia type 9 | +| DOID:0060969 | galactosemia 4 | +| DOID:0060950 | hypervalinemia and hyperleucine-isoleucinemia | +| DOID:0060968 | hypotrichosis 15 | +| DOID:0060333 | mitochondrial complex V (ATP synthase) deficiency nuclear type 4 | +| DOID:0070540 | mitochondrial short-chain enoyl-CoA hydratase 1 deficiency | +| DOID:0070543 | neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities | +| DOID:0070542 | neurodevelopmental disorder with spastic paraplegia and microcephaly | +| DOID:0060959 | orofaciodigital syndrome II | +| DOID:0060958 | orofaciodigital syndrome XIV | +| DOID:0060960 | orofaciodigital syndrome XIX | +| DOID:0060961 | orofaciodigital syndrome XVIII | +| DOID:0060962 | orofaciodigital syndrome XX | +| DOID:146 | papilledema | +| DOID:0060951 | polycystic kidney disease 6 | +| DOID:0060952 | polycystic kidney disease 7 | +| DOID:9373 | postural kyphosis | \ No newline at end of file diff --git a/src/mappings/doid.sssom.tsv b/src/mappings/doid.sssom.tsv index 354da4e4..6d85328d 100644 --- a/src/mappings/doid.sssom.tsv +++ b/src/mappings/doid.sssom.tsv @@ -6,7 +6,6 @@ # ENVO: http://purl.obolibrary.org/obo/ENVO_ # ExO: http://purl.obolibrary.org/obo/ExO_ # GARD: 'https://bioregistry.io/gard:' -# ICD10: http://apps.who.int/classifications/icd10/browse/2010/en#/ # ICD10CM: https://icd.codes/icd10cm/ # ICD9CM: https://icd.codes/icd9cm/ # ICDO: 'https://bioregistry.io/icdo:' @@ -14,8 +13,6 @@ # MEDDRA: https://identifiers.org/meddra/ # MESH: https://meshb.nlm.nih.gov/record/ui?ui= # NCI: http://purl.obolibrary.org/obo/NCIT_ -# OMIM: https://omim.org/entry/ -# OMIMPS: https://omim.org/phenotypicSeries/PS # OMIT: http://purl.obolibrary.org/obo/OMIT_ # ORDO: http://www.orpha.net/ORDO/Orphanet_ # SNOMEDCT_US_2020_03_01: http://identifiers.org/snomedct/ @@ -130,10 +127,8 @@ DOID:0050120 hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref GARD:6589 sem DOID:0050120 hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref ICD10CM:D76.1 semapv:UnspecifiedMatching DOID:0050120 hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref MESH:D051359 semapv:UnspecifiedMatching DOID:0050120 hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref NCI:C34792 semapv:UnspecifiedMatching -DOID:0050120 hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref OMIMPS:267700 semapv:UnspecifiedMatching DOID:0050120 hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref ORDO:540 semapv:UnspecifiedMatching DOID:0050120 hemophagocytic lymphohistiocytosis oboInOwl:hasDbXref UMLS:C0024291 semapv:UnspecifiedMatching -DOID:0050120 hemophagocytic lymphohistiocytosis skos:exactMatch OMIMPS:267700 semapv:UnspecifiedMatching DOID:0050127 sinusitis oboInOwl:hasDbXref ICD10CM:J01 semapv:UnspecifiedMatching DOID:0050127 sinusitis oboInOwl:hasDbXref ICD9CM:461 semapv:UnspecifiedMatching DOID:0050127 sinusitis oboInOwl:hasDbXref NCI:C128411 semapv:UnspecifiedMatching @@ -166,9 +161,7 @@ DOID:0050156 interstitial lung disease 2 oboInOwl:hasDbXref ICD10CM:J84.112 sema 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 @@ -179,9 +172,7 @@ DOID:0050158 desquamative interstitial pneumonia oboInOwl:hasDbXref ICD10CM:J84. DOID:0050158 desquamative interstitial pneumonia oboInOwl:hasDbXref ICD9CM:516.37 semapv:UnspecifiedMatching DOID:0050158 desquamative interstitial pneumonia oboInOwl:hasDbXref MESH:C562470 semapv:UnspecifiedMatching DOID:0050158 desquamative interstitial pneumonia oboInOwl:hasDbXref NCI:C35288 semapv:UnspecifiedMatching -DOID:0050158 desquamative interstitial pneumonia oboInOwl:hasDbXref OMIM:263000 semapv:UnspecifiedMatching DOID:0050158 desquamative interstitial pneumonia oboInOwl:hasDbXref UMLS:C0238378 semapv:UnspecifiedMatching -DOID:0050158 desquamative interstitial pneumonia skos:exactMatch OMIM:263000 semapv:UnspecifiedMatching DOID:0050159 lymphoid interstitial pneumonia oboInOwl:hasDbXref MESH:C562489 semapv:UnspecifiedMatching DOID:0050160 inhalation anthrax oboInOwl:hasDbXref MESH:C571912 semapv:UnspecifiedMatching DOID:0050161 lower respiratory tract disease oboInOwl:hasDbXref ICD9CM:478.19 semapv:UnspecifiedMatching @@ -190,11 +181,7 @@ DOID:0050166 tuberculous salpingitis oboInOwl:hasDbXref ICD10CM:A18.17 semapv:Un DOID:0050166 tuberculous salpingitis oboInOwl:hasDbXref ICD9CM:016.6 semapv:UnspecifiedMatching DOID:0050166 tuberculous salpingitis oboInOwl:hasDbXref UMLS:C0152828 semapv:UnspecifiedMatching DOID:0050167 autoimmune polyendocrine syndrome type 1 oboInOwl:hasDbXref GARD:8466 semapv:UnspecifiedMatching -DOID:0050167 autoimmune polyendocrine syndrome type 1 oboInOwl:hasDbXref OMIM:240300 semapv:UnspecifiedMatching -DOID:0050167 autoimmune polyendocrine syndrome type 1 skos:exactMatch OMIM:240300 semapv:UnspecifiedMatching DOID:0050168 autoimmune polyendocrine syndrome type 2 oboInOwl:hasDbXref GARD:7611 semapv:UnspecifiedMatching -DOID:0050168 autoimmune polyendocrine syndrome type 2 oboInOwl:hasDbXref OMIM:269200 semapv:UnspecifiedMatching -DOID:0050168 autoimmune polyendocrine syndrome type 2 skos:exactMatch OMIM:269200 semapv:UnspecifiedMatching DOID:0050169 cutaneous lupus erythematosus oboInOwl:hasDbXref GARD:6225 semapv:UnspecifiedMatching DOID:0050175 tick-borne encephalitis oboInOwl:hasDbXref GARD:5216 semapv:UnspecifiedMatching DOID:0050175 tick-borne encephalitis oboInOwl:hasDbXref ICD10CM:A84.1 semapv:UnspecifiedMatching @@ -227,41 +214,27 @@ DOID:0050328 congenital hypothyroidism oboInOwl:hasDbXref ICD9CM:243 semapv:Unsp DOID:0050328 congenital hypothyroidism oboInOwl:hasDbXref MESH:D003409 semapv:UnspecifiedMatching DOID:0050328 congenital hypothyroidism oboInOwl:hasDbXref NCI:C26734 semapv:UnspecifiedMatching DOID:0050328 congenital hypothyroidism oboInOwl:hasDbXref NCI:C98921 semapv:UnspecifiedMatching -DOID:0050328 congenital hypothyroidism oboInOwl:hasDbXref OMIMPS:275200 semapv:UnspecifiedMatching DOID:0050328 congenital hypothyroidism oboInOwl:hasDbXref UMLS:C0010308 semapv:UnspecifiedMatching DOID:0050328 congenital hypothyroidism oboInOwl:hasDbXref UMLS:C0342200 semapv:UnspecifiedMatching -DOID:0050328 congenital hypothyroidism skos:exactMatch OMIMPS:275200 semapv:UnspecifiedMatching -DOID:0050331 lacrimoauriculodentodigital syndrome 1 oboInOwl:hasDbXref OMIM:149730 semapv:UnspecifiedMatching -DOID:0050331 lacrimoauriculodentodigital syndrome 1 skos:exactMatch OMIM:149730 semapv:UnspecifiedMatching DOID:0050332 enlarged vestibular aqueduct oboInOwl:hasDbXref GARD:8651 semapv:UnspecifiedMatching DOID:0050335 bradyopsia oboInOwl:hasDbXref GARD:12299 semapv:UnspecifiedMatching DOID:0050335 bradyopsia oboInOwl:hasDbXref MESH:C564243 semapv:UnspecifiedMatching -DOID:0050335 bradyopsia oboInOwl:hasDbXref OMIMPS:608415 semapv:UnspecifiedMatching DOID:0050335 bradyopsia oboInOwl:hasDbXref ORDO:75374 semapv:UnspecifiedMatching DOID:0050335 bradyopsia oboInOwl:hasDbXref UMLS:C1842073 semapv:UnspecifiedMatching -DOID:0050335 bradyopsia skos:exactMatch OMIMPS:608415 semapv:UnspecifiedMatching DOID:0050336 hypophosphatemia oboInOwl:hasDbXref MESH:D017674 semapv:UnspecifiedMatching -DOID:0050387 nonpapillary renal cell carcinoma oboInOwl:hasDbXref OMIM:144700 semapv:UnspecifiedMatching -DOID:0050387 nonpapillary renal cell carcinoma skos:exactMatch OMIM:144700 semapv:UnspecifiedMatching DOID:0050419 complement factor I deficiency oboInOwl:hasDbXref MESH:C572568 semapv:UnspecifiedMatching -DOID:0050419 complement factor I deficiency oboInOwl:hasDbXref OMIM:610984 semapv:UnspecifiedMatching -DOID:0050419 complement factor I deficiency skos:exactMatch OMIM:610984 semapv:UnspecifiedMatching DOID:0050424 familial adenomatous polyposis oboInOwl:hasDbXref GARD:6408 semapv:UnspecifiedMatching DOID:0050424 familial adenomatous polyposis oboInOwl:hasDbXref MESH:D011125 semapv:UnspecifiedMatching DOID:0050424 familial adenomatous polyposis oboInOwl:hasDbXref NCI:C3339 semapv:UnspecifiedMatching -DOID:0050424 familial adenomatous polyposis oboInOwl:hasDbXref OMIMPS:175100 semapv:UnspecifiedMatching DOID:0050424 familial adenomatous polyposis oboInOwl:hasDbXref ORDO:733 semapv:UnspecifiedMatching DOID:0050424 familial adenomatous polyposis oboInOwl:hasDbXref UMLS:C0032580 semapv:UnspecifiedMatching -DOID:0050424 familial adenomatous polyposis skos:exactMatch OMIMPS:175100 semapv:UnspecifiedMatching DOID:0050425 restless legs syndrome oboInOwl:hasDbXref EFO:0004270 semapv:UnspecifiedMatching DOID:0050425 restless legs syndrome oboInOwl:hasDbXref GARD:11926 semapv:UnspecifiedMatching DOID:0050425 restless legs syndrome oboInOwl:hasDbXref ICD10CM:G25.81 semapv:UnspecifiedMatching DOID:0050425 restless legs syndrome oboInOwl:hasDbXref ICD9CM:333.94 semapv:UnspecifiedMatching DOID:0050425 restless legs syndrome oboInOwl:hasDbXref MESH:D012148 semapv:UnspecifiedMatching DOID:0050425 restless legs syndrome oboInOwl:hasDbXref NCI:C84501 semapv:UnspecifiedMatching -DOID:0050425 restless legs syndrome oboInOwl:hasDbXref OMIMPS:102300 semapv:UnspecifiedMatching DOID:0050425 restless legs syndrome oboInOwl:hasDbXref UMLS:C0035258 semapv:UnspecifiedMatching -DOID:0050425 restless legs syndrome skos:exactMatch OMIMPS:102300 semapv:UnspecifiedMatching DOID:0050426 Stevens-Johnson syndrome oboInOwl:hasDbXref EFO:0004276 semapv:UnspecifiedMatching DOID:0050426 Stevens-Johnson syndrome oboInOwl:hasDbXref GARD:7700 semapv:UnspecifiedMatching DOID:0050426 Stevens-Johnson syndrome oboInOwl:hasDbXref ICD10CM:L51.1 semapv:UnspecifiedMatching @@ -278,42 +251,29 @@ DOID:0050427 xeroderma pigmentosum oboInOwl:hasDbXref ORDO:910 semapv:Unspecifie DOID:0050427 xeroderma pigmentosum oboInOwl:hasDbXref UMLS:C0043346 semapv:UnspecifiedMatching DOID:0050428 nonepidermolytic palmoplantar keratoderma oboInOwl:hasDbXref MESH:D015776 semapv:UnspecifiedMatching DOID:0050428 nonepidermolytic palmoplantar keratoderma oboInOwl:hasDbXref NCI:C3147 semapv:UnspecifiedMatching -DOID:0050428 nonepidermolytic palmoplantar keratoderma oboInOwl:hasDbXref OMIM:600962 semapv:UnspecifiedMatching DOID:0050428 nonepidermolytic palmoplantar keratoderma oboInOwl:hasDbXref ORDO:2337 semapv:UnspecifiedMatching DOID:0050428 nonepidermolytic palmoplantar keratoderma oboInOwl:hasDbXref UMLS:C0022584 semapv:UnspecifiedMatching DOID:0050428 nonepidermolytic palmoplantar keratoderma oboInOwl:hasDbXref UMLS:C3489771 semapv:UnspecifiedMatching -DOID:0050428 nonepidermolytic palmoplantar keratoderma skos:exactMatch OMIM:600962 semapv:UnspecifiedMatching DOID:0050429 Hailey-Hailey disease oboInOwl:hasDbXref GARD:6559 semapv:UnspecifiedMatching DOID:0050429 Hailey-Hailey disease oboInOwl:hasDbXref ICD10CM:Q82.8 semapv:UnspecifiedMatching DOID:0050429 Hailey-Hailey disease oboInOwl:hasDbXref MESH:D016506 semapv:UnspecifiedMatching DOID:0050429 Hailey-Hailey disease oboInOwl:hasDbXref NCI:C82865 semapv:UnspecifiedMatching -DOID:0050429 Hailey-Hailey disease oboInOwl:hasDbXref OMIM:169600 semapv:UnspecifiedMatching DOID:0050429 Hailey-Hailey disease oboInOwl:hasDbXref UMLS:C0085106 semapv:UnspecifiedMatching -DOID:0050429 Hailey-Hailey disease skos:exactMatch OMIM:169600 semapv:UnspecifiedMatching DOID:0050430 multiple endocrine neoplasia type 2A oboInOwl:hasDbXref ICD10CM:E31.22 semapv:UnspecifiedMatching DOID:0050430 multiple endocrine neoplasia type 2A oboInOwl:hasDbXref ICD9CM:258.02 semapv:UnspecifiedMatching DOID:0050430 multiple endocrine neoplasia type 2A oboInOwl:hasDbXref MESH:D018813 semapv:UnspecifiedMatching DOID:0050430 multiple endocrine neoplasia type 2A oboInOwl:hasDbXref NCI:C3226 semapv:UnspecifiedMatching -DOID:0050430 multiple endocrine neoplasia type 2A oboInOwl:hasDbXref OMIM:171400 semapv:UnspecifiedMatching DOID:0050430 multiple endocrine neoplasia type 2A oboInOwl:hasDbXref ORDO:247698 semapv:UnspecifiedMatching DOID:0050430 multiple endocrine neoplasia type 2A oboInOwl:hasDbXref UMLS:C0025268 semapv:UnspecifiedMatching -DOID:0050430 multiple endocrine neoplasia type 2A skos:exactMatch OMIM:171400 semapv:UnspecifiedMatching DOID:0050431 arrhythmogenic right ventricular cardiomyopathy oboInOwl:hasDbXref MESH:D019571 semapv:UnspecifiedMatching DOID:0050431 arrhythmogenic right ventricular cardiomyopathy oboInOwl:hasDbXref NCI:C84571 semapv:UnspecifiedMatching -DOID:0050431 arrhythmogenic right ventricular cardiomyopathy oboInOwl:hasDbXref OMIMPS:107970 semapv:UnspecifiedMatching DOID:0050431 arrhythmogenic right ventricular cardiomyopathy oboInOwl:hasDbXref ORDO:217656 semapv:UnspecifiedMatching DOID:0050431 arrhythmogenic right ventricular cardiomyopathy oboInOwl:hasDbXref ORDO:247 semapv:UnspecifiedMatching DOID:0050431 arrhythmogenic right ventricular cardiomyopathy oboInOwl:hasDbXref UMLS:C0349788 semapv:UnspecifiedMatching -DOID:0050431 arrhythmogenic right ventricular cardiomyopathy skos:exactMatch OMIMPS:107970 semapv:UnspecifiedMatching DOID:0050432 Asperger syndrome oboInOwl:hasDbXref GARD:5855 semapv:UnspecifiedMatching DOID:0050432 Asperger syndrome oboInOwl:hasDbXref ICD10CM:F84.5 semapv:UnspecifiedMatching DOID:0050432 Asperger syndrome oboInOwl:hasDbXref MESH:D020817 semapv:UnspecifiedMatching DOID:0050432 Asperger syndrome oboInOwl:hasDbXref NCI:C97159 semapv:UnspecifiedMatching -DOID:0050432 Asperger syndrome oboInOwl:hasDbXref OMIM:608631 semapv:UnspecifiedMatching -DOID:0050432 Asperger syndrome oboInOwl:hasDbXref OMIM:608638 semapv:UnspecifiedMatching -DOID:0050432 Asperger syndrome oboInOwl:hasDbXref OMIM:608781 semapv:UnspecifiedMatching -DOID:0050432 Asperger syndrome oboInOwl:hasDbXref OMIM:609954 semapv:UnspecifiedMatching -DOID:0050432 Asperger syndrome oboInOwl:hasDbXref OMIMPS:608638 semapv:UnspecifiedMatching DOID:0050432 Asperger syndrome oboInOwl:hasDbXref ORDO:1162 semapv:UnspecifiedMatching DOID:0050432 Asperger syndrome oboInOwl:hasDbXref UMLS:C0236792 semapv:UnspecifiedMatching DOID:0050433 fatal familial insomnia oboInOwl:hasDbXref GARD:6429 semapv:UnspecifiedMatching @@ -321,127 +281,92 @@ DOID:0050433 fatal familial insomnia oboInOwl:hasDbXref ICD10CM:A81.83 semapv:Un DOID:0050433 fatal familial insomnia oboInOwl:hasDbXref ICD9CM:046.72 semapv:UnspecifiedMatching DOID:0050433 fatal familial insomnia oboInOwl:hasDbXref MESH:D034062 semapv:UnspecifiedMatching DOID:0050433 fatal familial insomnia oboInOwl:hasDbXref NCI:C84711 semapv:UnspecifiedMatching -DOID:0050433 fatal familial insomnia oboInOwl:hasDbXref OMIM:600072 semapv:UnspecifiedMatching DOID:0050433 fatal familial insomnia oboInOwl:hasDbXref UMLS:C0206042 semapv:UnspecifiedMatching -DOID:0050433 fatal familial insomnia skos:exactMatch OMIM:600072 semapv:UnspecifiedMatching DOID:0050434 Andersen-Tawil syndrome oboInOwl:hasDbXref GARD:9453 semapv:UnspecifiedMatching DOID:0050434 Andersen-Tawil syndrome oboInOwl:hasDbXref MESH:D050030 semapv:UnspecifiedMatching DOID:0050434 Andersen-Tawil syndrome oboInOwl:hasDbXref NCI:C84559 semapv:UnspecifiedMatching -DOID:0050434 Andersen-Tawil syndrome oboInOwl:hasDbXref OMIM:170390 semapv:UnspecifiedMatching DOID:0050434 Andersen-Tawil syndrome oboInOwl:hasDbXref ORDO:37553 semapv:UnspecifiedMatching DOID:0050434 Andersen-Tawil syndrome oboInOwl:hasDbXref UMLS:C1563715 semapv:UnspecifiedMatching -DOID:0050434 Andersen-Tawil syndrome skos:exactMatch OMIM:170390 semapv:UnspecifiedMatching DOID:0050436 mulibrey nanism oboInOwl:hasDbXref GARD:95 semapv:UnspecifiedMatching DOID:0050436 mulibrey nanism oboInOwl:hasDbXref MESH:D050336 semapv:UnspecifiedMatching DOID:0050436 mulibrey nanism oboInOwl:hasDbXref NCI:C84906 semapv:UnspecifiedMatching -DOID:0050436 mulibrey nanism oboInOwl:hasDbXref OMIM:253250 semapv:UnspecifiedMatching DOID:0050436 mulibrey nanism oboInOwl:hasDbXref ORDO:2576 semapv:UnspecifiedMatching DOID:0050436 mulibrey nanism oboInOwl:hasDbXref UMLS:C0524582 semapv:UnspecifiedMatching -DOID:0050436 mulibrey nanism skos:exactMatch OMIM:253250 semapv:UnspecifiedMatching DOID:0050437 Danon disease oboInOwl:hasDbXref GARD:9730 semapv:UnspecifiedMatching DOID:0050437 Danon disease oboInOwl:hasDbXref MESH:D052120 semapv:UnspecifiedMatching DOID:0050437 Danon disease oboInOwl:hasDbXref NCI:C84735 semapv:UnspecifiedMatching -DOID:0050437 Danon disease oboInOwl:hasDbXref OMIM:300257 semapv:UnspecifiedMatching DOID:0050437 Danon disease oboInOwl:hasDbXref UMLS:C0878677 semapv:UnspecifiedMatching -DOID:0050437 Danon disease skos:exactMatch OMIM:300257 semapv:UnspecifiedMatching DOID:0050438 Frasier syndrome oboInOwl:hasDbXref GARD:2375 semapv:UnspecifiedMatching DOID:0050438 Frasier syndrome oboInOwl:hasDbXref MESH:D052159 semapv:UnspecifiedMatching DOID:0050438 Frasier syndrome oboInOwl:hasDbXref NCI:C122805 semapv:UnspecifiedMatching -DOID:0050438 Frasier syndrome oboInOwl:hasDbXref OMIM:136680 semapv:UnspecifiedMatching DOID:0050438 Frasier syndrome oboInOwl:hasDbXref UMLS:C0950122 semapv:UnspecifiedMatching -DOID:0050438 Frasier syndrome skos:exactMatch OMIM:136680 semapv:UnspecifiedMatching DOID:0050439 Usher syndrome oboInOwl:hasDbXref GARD:7843 semapv:UnspecifiedMatching DOID:0050439 Usher syndrome oboInOwl:hasDbXref MESH:D052245 semapv:UnspecifiedMatching DOID:0050439 Usher syndrome oboInOwl:hasDbXref NCI:C85217 semapv:UnspecifiedMatching -DOID:0050439 Usher syndrome oboInOwl:hasDbXref OMIMPS:276900 semapv:UnspecifiedMatching DOID:0050439 Usher syndrome oboInOwl:hasDbXref ORDO:886 semapv:UnspecifiedMatching DOID:0050439 Usher syndrome oboInOwl:hasDbXref UMLS:C0271097 semapv:UnspecifiedMatching -DOID:0050439 Usher syndrome skos:exactMatch OMIMPS:276900 semapv:UnspecifiedMatching DOID:0050440 familial partial lipodystrophy oboInOwl:hasDbXref GARD:11962 semapv:UnspecifiedMatching DOID:0050440 familial partial lipodystrophy oboInOwl:hasDbXref MESH:D052496 semapv:UnspecifiedMatching DOID:0050440 familial partial lipodystrophy oboInOwl:hasDbXref NCI:C165527 semapv:UnspecifiedMatching DOID:0050440 familial partial lipodystrophy oboInOwl:hasDbXref NCI:C84708 semapv:UnspecifiedMatching -DOID:0050440 familial partial lipodystrophy oboInOwl:hasDbXref OMIMPS:151660 semapv:UnspecifiedMatching DOID:0050440 familial partial lipodystrophy oboInOwl:hasDbXref ORDO:98306 semapv:UnspecifiedMatching DOID:0050440 familial partial lipodystrophy oboInOwl:hasDbXref UMLS:C0271694 semapv:UnspecifiedMatching DOID:0050440 familial partial lipodystrophy oboInOwl:hasDbXref UMLS:C1720859 semapv:UnspecifiedMatching DOID:0050440 familial partial lipodystrophy oboInOwl:hasDbXref UMLS:C1720860 semapv:UnspecifiedMatching DOID:0050440 familial partial lipodystrophy oboInOwl:hasDbXref UMLS:C1720861 semapv:UnspecifiedMatching -DOID:0050440 familial partial lipodystrophy skos:exactMatch OMIMPS:151660 semapv:UnspecifiedMatching DOID:0050441 mucosulfatidosis oboInOwl:hasDbXref ICD10CM:E75.26 semapv:UnspecifiedMatching DOID:0050441 mucosulfatidosis oboInOwl:hasDbXref MESH:D052517 semapv:UnspecifiedMatching DOID:0050441 mucosulfatidosis oboInOwl:hasDbXref NCI:C84908 semapv:UnspecifiedMatching -DOID:0050441 mucosulfatidosis oboInOwl:hasDbXref OMIM:272200 semapv:UnspecifiedMatching DOID:0050441 mucosulfatidosis oboInOwl:hasDbXref UMLS:C0268263 semapv:UnspecifiedMatching DOID:0050441 mucosulfatidosis oboInOwl:hasDbXref UMLS:C1720864 semapv:UnspecifiedMatching -DOID:0050441 mucosulfatidosis skos:exactMatch OMIM:272200 semapv:UnspecifiedMatching DOID:0050444 infantile Refsum disease oboInOwl:hasDbXref ICD10CM:G60.1 semapv:UnspecifiedMatching DOID:0050444 infantile Refsum disease oboInOwl:hasDbXref MESH:D052919 semapv:UnspecifiedMatching DOID:0050444 infantile Refsum disease oboInOwl:hasDbXref NCI:C84789 semapv:UnspecifiedMatching DOID:0050444 infantile Refsum disease oboInOwl:hasDbXref UMLS:C0282527 semapv:UnspecifiedMatching DOID:0050445 X-linked dominant hypophosphatemic rickets oboInOwl:hasDbXref MESH:D053098 semapv:UnspecifiedMatching DOID:0050445 X-linked dominant hypophosphatemic rickets oboInOwl:hasDbXref NCI:C85234 semapv:UnspecifiedMatching -DOID:0050445 X-linked dominant hypophosphatemic rickets oboInOwl:hasDbXref OMIM:307800 semapv:UnspecifiedMatching DOID:0050445 X-linked dominant hypophosphatemic rickets oboInOwl:hasDbXref UMLS:C0733682 semapv:UnspecifiedMatching DOID:0050445 X-linked dominant hypophosphatemic rickets oboInOwl:hasDbXref UMLS:C1845168 semapv:UnspecifiedMatching DOID:0050445 X-linked dominant hypophosphatemic rickets oboInOwl:hasDbXref UMLS:C3540852 semapv:UnspecifiedMatching -DOID:0050445 X-linked dominant hypophosphatemic rickets skos:exactMatch OMIM:307800 semapv:UnspecifiedMatching DOID:0050448 white sponge nevus oboInOwl:hasDbXref GARD:8501 semapv:UnspecifiedMatching DOID:0050448 white sponge nevus oboInOwl:hasDbXref MESH:D053529 semapv:UnspecifiedMatching DOID:0050448 white sponge nevus oboInOwl:hasDbXref NCI:C84760 semapv:UnspecifiedMatching -DOID:0050448 white sponge nevus oboInOwl:hasDbXref OMIMPS:193900 semapv:UnspecifiedMatching DOID:0050448 white sponge nevus oboInOwl:hasDbXref ORDO:171723 semapv:UnspecifiedMatching DOID:0050448 white sponge nevus oboInOwl:hasDbXref UMLS:C1721005 semapv:UnspecifiedMatching -DOID:0050448 white sponge nevus skos:exactMatch OMIMPS:193900 semapv:UnspecifiedMatching DOID:0050449 pachyonychia congenita oboInOwl:hasDbXref GARD:10753 semapv:UnspecifiedMatching DOID:0050449 pachyonychia congenita oboInOwl:hasDbXref MESH:D053549 semapv:UnspecifiedMatching DOID:0050449 pachyonychia congenita oboInOwl:hasDbXref NCI:C84986 semapv:UnspecifiedMatching -DOID:0050449 pachyonychia congenita oboInOwl:hasDbXref OMIMPS:167200 semapv:UnspecifiedMatching DOID:0050449 pachyonychia congenita oboInOwl:hasDbXref ORDO:2309 semapv:UnspecifiedMatching DOID:0050449 pachyonychia congenita oboInOwl:hasDbXref UMLS:C0265334 semapv:UnspecifiedMatching DOID:0050449 pachyonychia congenita oboInOwl:hasDbXref UMLS:C1706595 semapv:UnspecifiedMatching DOID:0050449 pachyonychia congenita oboInOwl:hasDbXref UMLS:C1721007 semapv:UnspecifiedMatching -DOID:0050449 pachyonychia congenita skos:exactMatch OMIMPS:167200 semapv:UnspecifiedMatching DOID:0050450 Gitelman syndrome oboInOwl:hasDbXref GARD:8547 semapv:UnspecifiedMatching DOID:0050450 Gitelman syndrome oboInOwl:hasDbXref MESH:D053579 semapv:UnspecifiedMatching DOID:0050450 Gitelman syndrome oboInOwl:hasDbXref NCI:C84730 semapv:UnspecifiedMatching -DOID:0050450 Gitelman syndrome oboInOwl:hasDbXref OMIM:263800 semapv:UnspecifiedMatching DOID:0050450 Gitelman syndrome oboInOwl:hasDbXref UMLS:C0268450 semapv:UnspecifiedMatching -DOID:0050450 Gitelman syndrome skos:exactMatch OMIM:263800 semapv:UnspecifiedMatching DOID:0050451 Brugada syndrome oboInOwl:hasDbXref GARD:1030 semapv:UnspecifiedMatching DOID:0050451 Brugada syndrome oboInOwl:hasDbXref ICD10CM:I49.8 semapv:UnspecifiedMatching DOID:0050451 Brugada syndrome oboInOwl:hasDbXref MESH:D053840 semapv:UnspecifiedMatching DOID:0050451 Brugada syndrome oboInOwl:hasDbXref NCI:C142891 semapv:UnspecifiedMatching -DOID:0050451 Brugada syndrome oboInOwl:hasDbXref OMIMPS:601144 semapv:UnspecifiedMatching DOID:0050451 Brugada syndrome oboInOwl:hasDbXref ORDO:130 semapv:UnspecifiedMatching DOID:0050451 Brugada syndrome oboInOwl:hasDbXref UMLS:C1142166 semapv:UnspecifiedMatching DOID:0050451 Brugada syndrome oboInOwl:hasDbXref UMLS:C1721096 semapv:UnspecifiedMatching -DOID:0050451 Brugada syndrome skos:exactMatch OMIMPS:601144 semapv:UnspecifiedMatching DOID:0050452 mevalonic aciduria oboInOwl:hasDbXref GARD:3588 semapv:UnspecifiedMatching DOID:0050452 mevalonic aciduria oboInOwl:hasDbXref ICD10CM:M04.1 semapv:UnspecifiedMatching DOID:0050452 mevalonic aciduria oboInOwl:hasDbXref MESH:D054078 semapv:UnspecifiedMatching DOID:0050452 mevalonic aciduria oboInOwl:hasDbXref NCI:C84890 semapv:UnspecifiedMatching -DOID:0050452 mevalonic aciduria oboInOwl:hasDbXref OMIM:610377 semapv:UnspecifiedMatching DOID:0050452 mevalonic aciduria oboInOwl:hasDbXref ORDO:29 semapv:UnspecifiedMatching DOID:0050452 mevalonic aciduria oboInOwl:hasDbXref UMLS:C0342731 semapv:UnspecifiedMatching DOID:0050452 mevalonic aciduria oboInOwl:hasDbXref UMLS:C0398691 semapv:UnspecifiedMatching DOID:0050452 mevalonic aciduria oboInOwl:hasDbXref UMLS:C1959626 semapv:UnspecifiedMatching -DOID:0050452 mevalonic aciduria skos:exactMatch OMIM:610377 semapv:UnspecifiedMatching DOID:0050453 lissencephaly oboInOwl:hasDbXref GARD:12291 semapv:UnspecifiedMatching DOID:0050453 lissencephaly oboInOwl:hasDbXref ICD10CM:Q04.3 semapv:UnspecifiedMatching DOID:0050453 lissencephaly oboInOwl:hasDbXref MESH:D054082 semapv:UnspecifiedMatching DOID:0050453 lissencephaly oboInOwl:hasDbXref NCI:C103921 semapv:UnspecifiedMatching -DOID:0050453 lissencephaly oboInOwl:hasDbXref OMIMPS:607432 semapv:UnspecifiedMatching DOID:0050453 lissencephaly oboInOwl:hasDbXref ORDO:102009 semapv:UnspecifiedMatching DOID:0050453 lissencephaly oboInOwl:hasDbXref UMLS:C0266463 semapv:UnspecifiedMatching DOID:0050453 lissencephaly oboInOwl:hasDbXref UMLS:C0266483 semapv:UnspecifiedMatching -DOID:0050453 lissencephaly skos:exactMatch OMIMPS:607432 semapv:UnspecifiedMatching DOID:0050454 periventricular nodular heterotopia oboInOwl:hasDbXref MESH:D054091 semapv:UnspecifiedMatching -DOID:0050454 periventricular nodular heterotopia oboInOwl:hasDbXref OMIM:300049 semapv:UnspecifiedMatching -DOID:0050454 periventricular nodular heterotopia oboInOwl:hasDbXref OMIM:608097 semapv:UnspecifiedMatching -DOID:0050454 periventricular nodular heterotopia oboInOwl:hasDbXref OMIM:608098 semapv:UnspecifiedMatching -DOID:0050454 periventricular nodular heterotopia oboInOwl:hasDbXref OMIM:612881 semapv:UnspecifiedMatching -DOID:0050454 periventricular nodular heterotopia oboInOwl:hasDbXref OMIM:615544 semapv:UnspecifiedMatching DOID:0050454 periventricular nodular heterotopia oboInOwl:hasDbXref ORDO:98892 semapv:UnspecifiedMatching DOID:0050454 periventricular nodular heterotopia oboInOwl:hasDbXref UMLS:C1848213 semapv:UnspecifiedMatching DOID:0050454 periventricular nodular heterotopia oboInOwl:hasDbXref UMLS:C1868720 semapv:UnspecifiedMatching @@ -459,9 +384,7 @@ DOID:0050458 juvenile myelomonocytic leukemia oboInOwl:hasDbXref ICD10CM:C93.3 s DOID:0050458 juvenile myelomonocytic leukemia oboInOwl:hasDbXref ICDO:9946/3 semapv:UnspecifiedMatching DOID:0050458 juvenile myelomonocytic leukemia oboInOwl:hasDbXref MESH:D054429 semapv:UnspecifiedMatching DOID:0050458 juvenile myelomonocytic leukemia oboInOwl:hasDbXref NCI:C9233 semapv:UnspecifiedMatching -DOID:0050458 juvenile myelomonocytic leukemia oboInOwl:hasDbXref OMIM:607785 semapv:UnspecifiedMatching DOID:0050458 juvenile myelomonocytic leukemia oboInOwl:hasDbXref UMLS:C0349639 semapv:UnspecifiedMatching -DOID:0050458 juvenile myelomonocytic leukemia skos:exactMatch OMIM:607785 semapv:UnspecifiedMatching DOID:0050459 hyperphosphatemia oboInOwl:hasDbXref MESH:D054559 semapv:UnspecifiedMatching DOID:0050459 hyperphosphatemia oboInOwl:hasDbXref NCI:C113750 semapv:UnspecifiedMatching DOID:0050459 hyperphosphatemia oboInOwl:hasDbXref UMLS:C0085681 semapv:UnspecifiedMatching @@ -469,43 +392,31 @@ DOID:0050460 Wolf-Hirschhorn syndrome oboInOwl:hasDbXref GARD:7896 semapv:Unspec DOID:0050460 Wolf-Hirschhorn syndrome oboInOwl:hasDbXref ICD10CM:Q93.3 semapv:UnspecifiedMatching DOID:0050460 Wolf-Hirschhorn syndrome oboInOwl:hasDbXref MESH:D054877 semapv:UnspecifiedMatching DOID:0050460 Wolf-Hirschhorn syndrome oboInOwl:hasDbXref NCI:C35528 semapv:UnspecifiedMatching -DOID:0050460 Wolf-Hirschhorn syndrome oboInOwl:hasDbXref OMIM:194190 semapv:UnspecifiedMatching DOID:0050460 Wolf-Hirschhorn syndrome oboInOwl:hasDbXref ORDO:280 semapv:UnspecifiedMatching DOID:0050460 Wolf-Hirschhorn syndrome oboInOwl:hasDbXref UMLS:C0796117 semapv:UnspecifiedMatching DOID:0050460 Wolf-Hirschhorn syndrome oboInOwl:hasDbXref UMLS:C1956097 semapv:UnspecifiedMatching -DOID:0050460 Wolf-Hirschhorn syndrome skos:exactMatch OMIM:194190 semapv:UnspecifiedMatching DOID:0050461 aspartylglucosaminuria oboInOwl:hasDbXref GARD:5854 semapv:UnspecifiedMatching DOID:0050461 aspartylglucosaminuria oboInOwl:hasDbXref ICD10CM:E77.1 semapv:UnspecifiedMatching DOID:0050461 aspartylglucosaminuria oboInOwl:hasDbXref MESH:D054880 semapv:UnspecifiedMatching DOID:0050461 aspartylglucosaminuria oboInOwl:hasDbXref NCI:C61273 semapv:UnspecifiedMatching -DOID:0050461 aspartylglucosaminuria oboInOwl:hasDbXref OMIM:208400 semapv:UnspecifiedMatching DOID:0050461 aspartylglucosaminuria oboInOwl:hasDbXref UMLS:C0268225 semapv:UnspecifiedMatching DOID:0050461 aspartylglucosaminuria skos:exactMatch MESH:D054880 semapv:UnspecifiedMatching -DOID:0050461 aspartylglucosaminuria skos:exactMatch OMIM:208400 semapv:UnspecifiedMatching -DOID:0050462 Antley-Bixler syndrome with disordered steroidogenesis oboInOwl:hasDbXref OMIM:201750 semapv:UnspecifiedMatching DOID:0050462 Antley-Bixler syndrome with disordered steroidogenesis skos:exactMatch MESH:D054882 semapv:UnspecifiedMatching -DOID:0050462 Antley-Bixler syndrome with disordered steroidogenesis skos:exactMatch OMIM:201750 semapv:UnspecifiedMatching DOID:0050463 campomelic dysplasia oboInOwl:hasDbXref GARD:10027 semapv:UnspecifiedMatching DOID:0050463 campomelic dysplasia oboInOwl:hasDbXref MESH:D055036 semapv:UnspecifiedMatching DOID:0050463 campomelic dysplasia oboInOwl:hasDbXref NCI:C120205 semapv:UnspecifiedMatching DOID:0050463 campomelic dysplasia oboInOwl:hasDbXref NCI:C84609 semapv:UnspecifiedMatching -DOID:0050463 campomelic dysplasia oboInOwl:hasDbXref OMIM:114290 semapv:UnspecifiedMatching DOID:0050463 campomelic dysplasia oboInOwl:hasDbXref ORDO:140 semapv:UnspecifiedMatching DOID:0050463 campomelic dysplasia oboInOwl:hasDbXref UMLS:C1861922 semapv:UnspecifiedMatching DOID:0050463 campomelic dysplasia oboInOwl:hasDbXref UMLS:C1861923 semapv:UnspecifiedMatching -DOID:0050463 campomelic dysplasia skos:exactMatch OMIM:114290 semapv:UnspecifiedMatching DOID:0050464 Farber lipogranulomatosis oboInOwl:hasDbXref GARD:6426 semapv:UnspecifiedMatching DOID:0050464 Farber lipogranulomatosis oboInOwl:hasDbXref MESH:D055577 semapv:UnspecifiedMatching DOID:0050464 Farber lipogranulomatosis oboInOwl:hasDbXref NCI:C84710 semapv:UnspecifiedMatching -DOID:0050464 Farber lipogranulomatosis oboInOwl:hasDbXref OMIM:228000 semapv:UnspecifiedMatching DOID:0050464 Farber lipogranulomatosis oboInOwl:hasDbXref UMLS:C0268255 semapv:UnspecifiedMatching -DOID:0050464 Farber lipogranulomatosis skos:exactMatch OMIM:228000 semapv:UnspecifiedMatching DOID:0050465 Muir-Torre syndrome oboInOwl:hasDbXref GARD:6821 semapv:UnspecifiedMatching DOID:0050465 Muir-Torre syndrome oboInOwl:hasDbXref MESH:D055653 semapv:UnspecifiedMatching DOID:0050465 Muir-Torre syndrome oboInOwl:hasDbXref NCI:C84905 semapv:UnspecifiedMatching -DOID:0050465 Muir-Torre syndrome oboInOwl:hasDbXref OMIM:158320 semapv:UnspecifiedMatching DOID:0050465 Muir-Torre syndrome oboInOwl:hasDbXref UMLS:C1321489 semapv:UnspecifiedMatching -DOID:0050465 Muir-Torre syndrome skos:exactMatch OMIM:158320 semapv:UnspecifiedMatching DOID:0050466 Loeys-Dietz syndrome oboInOwl:hasDbXref GARD:10788 semapv:UnspecifiedMatching DOID:0050466 Loeys-Dietz syndrome oboInOwl:hasDbXref MESH:D055947 semapv:UnspecifiedMatching DOID:0050466 Loeys-Dietz syndrome oboInOwl:hasDbXref NCI:C75006 semapv:UnspecifiedMatching @@ -514,39 +425,28 @@ DOID:0050466 Loeys-Dietz syndrome oboInOwl:hasDbXref UMLS:C1836635 semapv:Unspec DOID:0050466 Loeys-Dietz syndrome oboInOwl:hasDbXref UMLS:C2697932 semapv:UnspecifiedMatching DOID:0050467 erythrokeratodermia variabilis oboInOwl:hasDbXref MESH:D056266 semapv:UnspecifiedMatching DOID:0050467 erythrokeratodermia variabilis oboInOwl:hasDbXref NCI:C84696 semapv:UnspecifiedMatching -DOID:0050467 erythrokeratodermia variabilis oboInOwl:hasDbXref OMIMPS:133200 semapv:UnspecifiedMatching DOID:0050467 erythrokeratodermia variabilis oboInOwl:hasDbXref ORDO:317 semapv:UnspecifiedMatching DOID:0050467 erythrokeratodermia variabilis oboInOwl:hasDbXref UMLS:C0265961 semapv:UnspecifiedMatching DOID:0050467 erythrokeratodermia variabilis oboInOwl:hasDbXref UMLS:C1851480 semapv:UnspecifiedMatching DOID:0050467 erythrokeratodermia variabilis skos:exactMatch MESH:D056266 semapv:UnspecifiedMatching -DOID:0050467 erythrokeratodermia variabilis skos:exactMatch OMIMPS:133200 semapv:UnspecifiedMatching DOID:0050468 yellow nail syndrome oboInOwl:hasDbXref GARD:184 semapv:UnspecifiedMatching DOID:0050468 yellow nail syndrome oboInOwl:hasDbXref ICD10CM:L60.5 semapv:UnspecifiedMatching DOID:0050468 yellow nail syndrome oboInOwl:hasDbXref MESH:D056684 semapv:UnspecifiedMatching DOID:0050468 yellow nail syndrome oboInOwl:hasDbXref NCI:C85238 semapv:UnspecifiedMatching -DOID:0050468 yellow nail syndrome oboInOwl:hasDbXref OMIM:153300 semapv:UnspecifiedMatching DOID:0050468 yellow nail syndrome oboInOwl:hasDbXref UMLS:C0221348 semapv:UnspecifiedMatching -DOID:0050468 yellow nail syndrome skos:exactMatch OMIM:153300 semapv:UnspecifiedMatching DOID:0050469 Costello syndrome oboInOwl:hasDbXref GARD:1550 semapv:UnspecifiedMatching DOID:0050469 Costello syndrome oboInOwl:hasDbXref MESH:D056685 semapv:UnspecifiedMatching DOID:0050469 Costello syndrome oboInOwl:hasDbXref NCI:C84652 semapv:UnspecifiedMatching -DOID:0050469 Costello syndrome oboInOwl:hasDbXref OMIM:218040 semapv:UnspecifiedMatching DOID:0050469 Costello syndrome oboInOwl:hasDbXref UMLS:C0587248 semapv:UnspecifiedMatching -DOID:0050469 Costello syndrome skos:exactMatch OMIM:218040 semapv:UnspecifiedMatching DOID:0050470 Donohue syndrome oboInOwl:hasDbXref MESH:D056731 semapv:UnspecifiedMatching DOID:0050470 Donohue syndrome oboInOwl:hasDbXref NCI:C131000 semapv:UnspecifiedMatching DOID:0050470 Donohue syndrome oboInOwl:hasDbXref NCI:C84676 semapv:UnspecifiedMatching -DOID:0050470 Donohue syndrome oboInOwl:hasDbXref OMIM:246200 semapv:UnspecifiedMatching DOID:0050470 Donohue syndrome oboInOwl:hasDbXref ORDO:508 semapv:UnspecifiedMatching DOID:0050470 Donohue syndrome oboInOwl:hasDbXref UMLS:C0265344 semapv:UnspecifiedMatching DOID:0050470 Donohue syndrome oboInOwl:hasDbXref UMLS:C0271695 semapv:UnspecifiedMatching -DOID:0050470 Donohue syndrome skos:exactMatch OMIM:246200 semapv:UnspecifiedMatching DOID:0050471 Carney complex oboInOwl:hasDbXref GARD:1119 semapv:UnspecifiedMatching DOID:0050471 Carney complex oboInOwl:hasDbXref MESH:D056733 semapv:UnspecifiedMatching DOID:0050471 Carney complex oboInOwl:hasDbXref NCI:C4705 semapv:UnspecifiedMatching -DOID:0050471 Carney complex oboInOwl:hasDbXref OMIM:160980 semapv:UnspecifiedMatching -DOID:0050471 Carney complex oboInOwl:hasDbXref OMIM:605244 semapv:UnspecifiedMatching -DOID:0050471 Carney complex oboInOwl:hasDbXref OMIM:608837 semapv:UnspecifiedMatching DOID:0050471 Carney complex oboInOwl:hasDbXref ORDO:1359 semapv:UnspecifiedMatching DOID:0050471 Carney complex oboInOwl:hasDbXref UMLS:C0406810 semapv:UnspecifiedMatching DOID:0050471 Carney complex oboInOwl:hasDbXref UMLS:C1854540 semapv:UnspecifiedMatching @@ -555,28 +455,17 @@ DOID:0050472 monilethrix oboInOwl:hasDbXref GARD:93 semapv:UnspecifiedMatching DOID:0050472 monilethrix oboInOwl:hasDbXref ICD10CM:Q84.1 semapv:UnspecifiedMatching DOID:0050472 monilethrix oboInOwl:hasDbXref MESH:D056734 semapv:UnspecifiedMatching DOID:0050472 monilethrix oboInOwl:hasDbXref NCI:C84894 semapv:UnspecifiedMatching -DOID:0050472 monilethrix oboInOwl:hasDbXref OMIM:158000 semapv:UnspecifiedMatching DOID:0050472 monilethrix oboInOwl:hasDbXref UMLS:C0546966 semapv:UnspecifiedMatching -DOID:0050472 monilethrix skos:exactMatch OMIM:158000 semapv:UnspecifiedMatching DOID:0050473 Alstrom syndrome oboInOwl:hasDbXref MESH:D056769 semapv:UnspecifiedMatching DOID:0050473 Alstrom syndrome oboInOwl:hasDbXref NCI:C84549 semapv:UnspecifiedMatching -DOID:0050473 Alstrom syndrome oboInOwl:hasDbXref OMIM:203800 semapv:UnspecifiedMatching DOID:0050473 Alstrom syndrome oboInOwl:hasDbXref UMLS:C0268425 semapv:UnspecifiedMatching DOID:0050473 Alstrom syndrome skos:exactMatch MESH:D056769 semapv:UnspecifiedMatching -DOID:0050473 Alstrom syndrome skos:exactMatch OMIM:203800 semapv:UnspecifiedMatching DOID:0050474 Netherton syndrome oboInOwl:hasDbXref GARD:7182 semapv:UnspecifiedMatching -DOID:0050474 Netherton syndrome oboInOwl:hasDbXref OMIM:256500 semapv:UnspecifiedMatching DOID:0050474 Netherton syndrome oboInOwl:hasDbXref ORDO:634 semapv:UnspecifiedMatching DOID:0050474 Netherton syndrome oboInOwl:hasDbXref UMLS:C0265962 semapv:UnspecifiedMatching -DOID:0050474 Netherton syndrome skos:exactMatch OMIM:256500 semapv:UnspecifiedMatching DOID:0050475 Weill-Marchesani syndrome oboInOwl:hasDbXref GARD:4936 semapv:UnspecifiedMatching DOID:0050475 Weill-Marchesani syndrome oboInOwl:hasDbXref MESH:D056846 semapv:UnspecifiedMatching DOID:0050475 Weill-Marchesani syndrome oboInOwl:hasDbXref NCI:C85226 semapv:UnspecifiedMatching -DOID:0050475 Weill-Marchesani syndrome oboInOwl:hasDbXref OMIM:277600 semapv:UnspecifiedMatching -DOID:0050475 Weill-Marchesani syndrome oboInOwl:hasDbXref OMIM:608328 semapv:UnspecifiedMatching -DOID:0050475 Weill-Marchesani syndrome oboInOwl:hasDbXref OMIM:613195 semapv:UnspecifiedMatching -DOID:0050475 Weill-Marchesani syndrome oboInOwl:hasDbXref OMIM:614819 semapv:UnspecifiedMatching -DOID:0050475 Weill-Marchesani syndrome oboInOwl:hasDbXref OMIMPS:277600 semapv:UnspecifiedMatching DOID:0050475 Weill-Marchesani syndrome oboInOwl:hasDbXref ORDO:3449 semapv:UnspecifiedMatching DOID:0050475 Weill-Marchesani syndrome oboInOwl:hasDbXref UMLS:C0265313 semapv:UnspecifiedMatching DOID:0050475 Weill-Marchesani syndrome oboInOwl:hasDbXref UMLS:C1869114 semapv:UnspecifiedMatching @@ -585,16 +474,12 @@ DOID:0050476 Barth syndrome oboInOwl:hasDbXref GARD:5890 semapv:UnspecifiedMatch DOID:0050476 Barth syndrome oboInOwl:hasDbXref ICD10CM:E78.71 semapv:UnspecifiedMatching DOID:0050476 Barth syndrome oboInOwl:hasDbXref MESH:D056889 semapv:UnspecifiedMatching DOID:0050476 Barth syndrome oboInOwl:hasDbXref NCI:C84585 semapv:UnspecifiedMatching -DOID:0050476 Barth syndrome oboInOwl:hasDbXref OMIM:302060 semapv:UnspecifiedMatching DOID:0050476 Barth syndrome oboInOwl:hasDbXref UMLS:C0574083 semapv:UnspecifiedMatching DOID:0050476 Barth syndrome skos:exactMatch MESH:D056889 semapv:UnspecifiedMatching -DOID:0050476 Barth syndrome skos:exactMatch OMIM:302060 semapv:UnspecifiedMatching DOID:0050477 Liddle syndrome oboInOwl:hasDbXref GARD:7381 semapv:UnspecifiedMatching DOID:0050477 Liddle syndrome oboInOwl:hasDbXref MESH:D056929 semapv:UnspecifiedMatching DOID:0050477 Liddle syndrome oboInOwl:hasDbXref NCI:C84827 semapv:UnspecifiedMatching -DOID:0050477 Liddle syndrome oboInOwl:hasDbXref OMIM:177200 semapv:UnspecifiedMatching DOID:0050477 Liddle syndrome oboInOwl:hasDbXref UMLS:C0221043 semapv:UnspecifiedMatching -DOID:0050477 Liddle syndrome skos:exactMatch OMIM:177200 semapv:UnspecifiedMatching DOID:0050485 sennetsu fever oboInOwl:hasDbXref GARD:120 semapv:UnspecifiedMatching DOID:0050485 sennetsu fever oboInOwl:hasDbXref MESH:C537582 semapv:UnspecifiedMatching DOID:0050486 exanthem oboInOwl:hasDbXref ICD10CM:R21 semapv:UnspecifiedMatching @@ -602,10 +487,6 @@ DOID:0050486 exanthem oboInOwl:hasDbXref ICD9CM:782.1 semapv:UnspecifiedMatching DOID:0050486 exanthem oboInOwl:hasDbXref MESH:D005076 semapv:UnspecifiedMatching DOID:0050486 exanthem oboInOwl:hasDbXref NCI:C111884 semapv:UnspecifiedMatching DOID:0050486 exanthem oboInOwl:hasDbXref UMLS:C0015230 semapv:UnspecifiedMatching -DOID:0050489 multinodular goiter oboInOwl:hasDbXref OMIM:138800 semapv:UnspecifiedMatching -DOID:0050489 multinodular goiter oboInOwl:hasDbXref OMIM:300273 semapv:UnspecifiedMatching -DOID:0050489 multinodular goiter oboInOwl:hasDbXref OMIM:606082 semapv:UnspecifiedMatching -DOID:0050489 multinodular goiter oboInOwl:hasDbXref OMIMPS:138800 semapv:UnspecifiedMatching DOID:0050489 multinodular goiter oboInOwl:hasDbXref ORDO:276399 semapv:UnspecifiedMatching DOID:0050495 exanthema subitum oboInOwl:hasDbXref ICD10CM:B08.2 semapv:UnspecifiedMatching DOID:0050495 exanthema subitum oboInOwl:hasDbXref ICD9CM:058.1 semapv:UnspecifiedMatching @@ -622,211 +503,115 @@ DOID:0050523 adult T-cell leukemia/lymphoma oboInOwl:hasDbXref UMLS:C0023493 sem DOID:0050524 maturity-onset diabetes of the young oboInOwl:hasDbXref GARD:3697 semapv:UnspecifiedMatching DOID:0050524 maturity-onset diabetes of the young oboInOwl:hasDbXref ICD10CM:E11.8 semapv:UnspecifiedMatching DOID:0050524 maturity-onset diabetes of the young oboInOwl:hasDbXref KEGG:04950 semapv:UnspecifiedMatching -DOID:0050524 maturity-onset diabetes of the young oboInOwl:hasDbXref OMIM:606391 semapv:UnspecifiedMatching DOID:0050524 maturity-onset diabetes of the young oboInOwl:hasDbXref ORDO:552 semapv:UnspecifiedMatching -DOID:0050524 maturity-onset diabetes of the young skos:exactMatch OMIM:606391 semapv:UnspecifiedMatching DOID:0050526 Gamstorp-Wohlfart syndrome oboInOwl:hasDbXref GARD:12353 semapv:UnspecifiedMatching -DOID:0050526 Gamstorp-Wohlfart syndrome oboInOwl:hasDbXref OMIM:137200 semapv:UnspecifiedMatching -DOID:0050526 Gamstorp-Wohlfart syndrome skos:exactMatch OMIM:137200 semapv:UnspecifiedMatching -DOID:0050528 nonphotosensitive trichothiodystrophy 4 oboInOwl:hasDbXref OMIM:234050 semapv:UnspecifiedMatching -DOID:0050528 nonphotosensitive trichothiodystrophy 4 skos:exactMatch OMIM:234050 semapv:UnspecifiedMatching DOID:0050529 adult spinal muscular atrophy oboInOwl:hasDbXref ICD10CM:G12.1 semapv:UnspecifiedMatching DOID:0050529 adult spinal muscular atrophy oboInOwl:hasDbXref MESH:C563948 semapv:UnspecifiedMatching -DOID:0050529 adult spinal muscular atrophy oboInOwl:hasDbXref OMIM:271150 semapv:UnspecifiedMatching DOID:0050529 adult spinal muscular atrophy oboInOwl:hasDbXref ORDO:83420 semapv:UnspecifiedMatching DOID:0050529 adult spinal muscular atrophy oboInOwl:hasDbXref UMLS:C1838230 semapv:UnspecifiedMatching -DOID:0050529 adult spinal muscular atrophy skos:exactMatch OMIM:271150 semapv:UnspecifiedMatching DOID:0050530 intermediate spinal muscular atrophy oboInOwl:hasDbXref MESH:D014897 semapv:UnspecifiedMatching DOID:0050530 intermediate spinal muscular atrophy oboInOwl:hasDbXref NCI:C156310 semapv:UnspecifiedMatching -DOID:0050530 intermediate spinal muscular atrophy oboInOwl:hasDbXref OMIM:253550 semapv:UnspecifiedMatching DOID:0050530 intermediate spinal muscular atrophy oboInOwl:hasDbXref UMLS:C0393538 semapv:UnspecifiedMatching -DOID:0050530 intermediate spinal muscular atrophy skos:exactMatch OMIM:253550 semapv:UnspecifiedMatching DOID:0050534 congenital stationary night blindness oboInOwl:hasDbXref ICD10CM:H53.63 semapv:UnspecifiedMatching DOID:0050534 congenital stationary night blindness oboInOwl:hasDbXref ICD9CM:368.61 semapv:UnspecifiedMatching DOID:0050534 congenital stationary night blindness oboInOwl:hasDbXref MESH:C537743 semapv:UnspecifiedMatching -DOID:0050534 congenital stationary night blindness oboInOwl:hasDbXref OMIMPS:310500 semapv:UnspecifiedMatching DOID:0050534 congenital stationary night blindness oboInOwl:hasDbXref ORDO:215 semapv:UnspecifiedMatching DOID:0050534 congenital stationary night blindness oboInOwl:hasDbXref UMLS:C1306122 semapv:UnspecifiedMatching -DOID:0050534 congenital stationary night blindness skos:exactMatch OMIMPS:310500 semapv:UnspecifiedMatching DOID:0050535 exudative vitreoretinopathy oboInOwl:hasDbXref GARD:1613 semapv:UnspecifiedMatching DOID:0050535 exudative vitreoretinopathy oboInOwl:hasDbXref ICD10CM:H35.00 semapv:UnspecifiedMatching DOID:0050535 exudative vitreoretinopathy oboInOwl:hasDbXref ICD9CM:362.10 semapv:UnspecifiedMatching -DOID:0050535 exudative vitreoretinopathy oboInOwl:hasDbXref OMIMPS:133780 semapv:UnspecifiedMatching DOID:0050535 exudative vitreoretinopathy oboInOwl:hasDbXref ORDO:891 semapv:UnspecifiedMatching DOID:0050535 exudative vitreoretinopathy oboInOwl:hasDbXref UMLS:C0004608 semapv:UnspecifiedMatching -DOID:0050535 exudative vitreoretinopathy skos:exactMatch OMIMPS:133780 semapv:UnspecifiedMatching DOID:0050538 Charcot-Marie-Tooth disease type 1 oboInOwl:hasDbXref GARD:12433 semapv:UnspecifiedMatching DOID:0050539 Charcot-Marie-Tooth disease type 2 oboInOwl:hasDbXref GARD:12431 semapv:UnspecifiedMatching DOID:0050539 Charcot-Marie-Tooth disease type 2 oboInOwl:hasDbXref ICD9CM:356.0 semapv:UnspecifiedMatching -DOID:0050539 Charcot-Marie-Tooth disease type 2 oboInOwl:hasDbXref OMIM:118230 semapv:UnspecifiedMatching -DOID:0050539 Charcot-Marie-Tooth disease type 2 oboInOwl:hasDbXref OMIM:604484 semapv:UnspecifiedMatching DOID:0050539 Charcot-Marie-Tooth disease type 2 oboInOwl:hasDbXref ORDO:64746 semapv:UnspecifiedMatching DOID:0050539 Charcot-Marie-Tooth disease type 2 oboInOwl:hasDbXref UMLS:C0392553 semapv:UnspecifiedMatching -DOID:0050540 Charcot-Marie-Tooth disease type 3 oboInOwl:hasDbXref OMIM:145900 semapv:UnspecifiedMatching -DOID:0050540 Charcot-Marie-Tooth disease type 3 skos:exactMatch OMIM:145900 semapv:UnspecifiedMatching DOID:0050541 Charcot-Marie-Tooth disease type 4 oboInOwl:hasDbXref GARD:12440 semapv:UnspecifiedMatching DOID:0050541 Charcot-Marie-Tooth disease type 4 oboInOwl:hasDbXref ORDO:64749 semapv:UnspecifiedMatching DOID:0050542 Charcot-Marie-Tooth disease type X oboInOwl:hasDbXref ORDO:64747 semapv:UnspecifiedMatching DOID:0050544 hypermethioninemia oboInOwl:hasDbXref MESH:C564683 semapv:UnspecifiedMatching DOID:0050545 visceral heterotaxy oboInOwl:hasDbXref GARD:10875 semapv:UnspecifiedMatching -DOID:0050545 visceral heterotaxy oboInOwl:hasDbXref OMIM:306955 semapv:UnspecifiedMatching -DOID:0050545 visceral heterotaxy oboInOwl:hasDbXref OMIM:605376 semapv:UnspecifiedMatching -DOID:0050545 visceral heterotaxy oboInOwl:hasDbXref OMIM:606325 semapv:UnspecifiedMatching -DOID:0050545 visceral heterotaxy oboInOwl:hasDbXref OMIM:613751 semapv:UnspecifiedMatching -DOID:0050545 visceral heterotaxy oboInOwl:hasDbXref OMIM:614779 semapv:UnspecifiedMatching -DOID:0050545 visceral heterotaxy oboInOwl:hasDbXref OMIMPS:306955 semapv:UnspecifiedMatching DOID:0050545 visceral heterotaxy oboInOwl:hasDbXref ORDO:450 semapv:UnspecifiedMatching -DOID:0050546 congenital adrenal insufficiency oboInOwl:hasDbXref OMIM:613743 semapv:UnspecifiedMatching -DOID:0050546 congenital adrenal insufficiency skos:exactMatch OMIM:613743 semapv:UnspecifiedMatching DOID:0050547 familial medullary thyroid carcinoma oboInOwl:hasDbXref MESH:C536911 semapv:UnspecifiedMatching -DOID:0050547 familial medullary thyroid carcinoma oboInOwl:hasDbXref OMIM:155240 semapv:UnspecifiedMatching -DOID:0050547 familial medullary thyroid carcinoma skos:exactMatch OMIM:155240 semapv:UnspecifiedMatching DOID:0050548 hereditary sensory neuropathy oboInOwl:hasDbXref MESH:D009477 semapv:UnspecifiedMatching -DOID:0050548 hereditary sensory neuropathy oboInOwl:hasDbXref OMIMPS:162400 semapv:UnspecifiedMatching -DOID:0050548 hereditary sensory neuropathy skos:exactMatch OMIMPS:162400 semapv:UnspecifiedMatching DOID:0050553 proteasome-associated autoinflammatory syndrome 1 oboInOwl:hasDbXref GARD:10988 semapv:UnspecifiedMatching DOID:0050553 proteasome-associated autoinflammatory syndrome 1 oboInOwl:hasDbXref GARD:3916 semapv:UnspecifiedMatching DOID:0050553 proteasome-associated autoinflammatory syndrome 1 oboInOwl:hasDbXref GARD:3917 semapv:UnspecifiedMatching -DOID:0050553 proteasome-associated autoinflammatory syndrome 1 oboInOwl:hasDbXref OMIM:256040 semapv:UnspecifiedMatching DOID:0050553 proteasome-associated autoinflammatory syndrome 1 oboInOwl:hasDbXref ORDO:324999 semapv:UnspecifiedMatching -DOID:0050553 proteasome-associated autoinflammatory syndrome 1 skos:exactMatch OMIM:256040 semapv:UnspecifiedMatching -DOID:0050554 X-linked sideroblastic anemia with ataxia oboInOwl:hasDbXref OMIM:301310 semapv:UnspecifiedMatching -DOID:0050554 X-linked sideroblastic anemia with ataxia skos:exactMatch OMIM:301310 semapv:UnspecifiedMatching DOID:0050557 congenital muscular dystrophy oboInOwl:hasDbXref GARD:9138 semapv:UnspecifiedMatching DOID:0050557 congenital muscular dystrophy oboInOwl:hasDbXref ICD9CM:359.0 semapv:UnspecifiedMatching -DOID:0050557 congenital muscular dystrophy oboInOwl:hasDbXref OMIM:254100 semapv:UnspecifiedMatching DOID:0050557 congenital muscular dystrophy oboInOwl:hasDbXref ORDO:97242 semapv:UnspecifiedMatching 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 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 -DOID:0050559 Fukuyama congenital muscular dystrophy skos:exactMatch OMIM:253800 semapv:UnspecifiedMatching DOID:0050560 Walker-Warburg syndrome oboInOwl:hasDbXref GARD:2599 semapv:UnspecifiedMatching DOID:0050560 Walker-Warburg syndrome oboInOwl:hasDbXref MESH:D058494 semapv:UnspecifiedMatching DOID:0050561 Lennox-Gastaut syndrome oboInOwl:hasDbXref GARD:9912 semapv:UnspecifiedMatching DOID:0050561 Lennox-Gastaut syndrome oboInOwl:hasDbXref MESH:D065768 semapv:UnspecifiedMatching -DOID:0050561 Lennox-Gastaut syndrome oboInOwl:hasDbXref OMIM:606369 semapv:UnspecifiedMatching DOID:0050561 Lennox-Gastaut syndrome oboInOwl:hasDbXref ORDO:2382 semapv:UnspecifiedMatching -DOID:0050561 Lennox-Gastaut syndrome skos:exactMatch OMIM:606369 semapv:UnspecifiedMatching DOID:0050562 West syndrome oboInOwl:hasDbXref GARD:7887 semapv:UnspecifiedMatching DOID:0050562 West syndrome oboInOwl:hasDbXref MESH:D013036 semapv:UnspecifiedMatching DOID:0050562 West syndrome oboInOwl:hasDbXref NCI:C84788 semapv:UnspecifiedMatching DOID:0050562 West syndrome oboInOwl:hasDbXref ORDO:3451 semapv:UnspecifiedMatching DOID:0050563 nonsyndromic deafness oboInOwl:hasDbXref MESH:C580334 semapv:UnspecifiedMatching DOID:0050564 autosomal dominant nonsyndromic deafness oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0050564 autosomal dominant nonsyndromic deafness oboInOwl:hasDbXref OMIMPS:124900 semapv:UnspecifiedMatching DOID:0050564 autosomal dominant nonsyndromic deafness oboInOwl:hasDbXref ORDO:90635 semapv:UnspecifiedMatching -DOID:0050564 autosomal dominant nonsyndromic deafness skos:exactMatch OMIMPS:124900 semapv:UnspecifiedMatching DOID:0050565 autosomal recessive nonsyndromic deafness oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0050565 autosomal recessive nonsyndromic deafness oboInOwl:hasDbXref OMIM:607197 semapv:UnspecifiedMatching -DOID:0050565 autosomal recessive nonsyndromic deafness oboInOwl:hasDbXref OMIMPS:220290 semapv:UnspecifiedMatching DOID:0050565 autosomal recessive nonsyndromic deafness oboInOwl:hasDbXref ORDO:90636 semapv:UnspecifiedMatching DOID:0050566 X-linked nonsyndromic deafness oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0050566 X-linked nonsyndromic deafness oboInOwl:hasDbXref OMIMPS:304500 semapv:UnspecifiedMatching DOID:0050566 X-linked nonsyndromic deafness oboInOwl:hasDbXref ORDO:90625 semapv:UnspecifiedMatching -DOID:0050566 X-linked nonsyndromic deafness skos:exactMatch OMIMPS:304500 semapv:UnspecifiedMatching -DOID:0050567 orofacial cleft oboInOwl:hasDbXref OMIMPS:119530 semapv:UnspecifiedMatching -DOID:0050567 orofacial cleft skos:exactMatch OMIMPS:119530 semapv:UnspecifiedMatching DOID:0050568 spondylocostal dysostosis oboInOwl:hasDbXref GARD:12174 semapv:UnspecifiedMatching -DOID:0050568 spondylocostal dysostosis oboInOwl:hasDbXref OMIMPS:277300 semapv:UnspecifiedMatching DOID:0050568 spondylocostal dysostosis oboInOwl:hasDbXref ORDO:1797 semapv:UnspecifiedMatching DOID:0050568 spondylocostal dysostosis oboInOwl:hasDbXref ORDO:2311 semapv:UnspecifiedMatching -DOID:0050568 spondylocostal dysostosis skos:exactMatch OMIMPS:277300 semapv:UnspecifiedMatching DOID:0050569 Seckel syndrome oboInOwl:hasDbXref GARD:8562 semapv:UnspecifiedMatching DOID:0050569 Seckel syndrome oboInOwl:hasDbXref ICD10CM:Q87.1 semapv:UnspecifiedMatching -DOID:0050569 Seckel syndrome oboInOwl:hasDbXref OMIMPS:210600 semapv:UnspecifiedMatching DOID:0050569 Seckel syndrome oboInOwl:hasDbXref ORDO:808 semapv:UnspecifiedMatching -DOID:0050569 Seckel syndrome skos:exactMatch OMIMPS:210600 semapv:UnspecifiedMatching -DOID:0050570 congenital disorder of glycosylation type I oboInOwl:hasDbXref OMIMPS:212065 semapv:UnspecifiedMatching -DOID:0050570 congenital disorder of glycosylation type I skos:exactMatch OMIMPS:212065 semapv:UnspecifiedMatching DOID:0050571 congenital disorder of glycosylation type II oboInOwl:hasDbXref MESH:C535747 semapv:UnspecifiedMatching -DOID:0050571 congenital disorder of glycosylation type II oboInOwl:hasDbXref OMIMPS:212066 semapv:UnspecifiedMatching -DOID:0050571 congenital disorder of glycosylation type II skos:exactMatch OMIMPS:212066 semapv:UnspecifiedMatching DOID:0050572 cone-rod dystrophy oboInOwl:hasDbXref GARD:10790 semapv:UnspecifiedMatching DOID:0050572 cone-rod dystrophy oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0050572 cone-rod dystrophy oboInOwl:hasDbXref ORDO:1872 semapv:UnspecifiedMatching DOID:0050573 2-hydroxyglutaric aciduria oboInOwl:hasDbXref GARD:10761 semapv:UnspecifiedMatching DOID:0050573 2-hydroxyglutaric aciduria oboInOwl:hasDbXref MESH:C535306 semapv:UnspecifiedMatching DOID:0050574 L-2-hydroxyglutaric aciduria oboInOwl:hasDbXref GARD:10472 semapv:UnspecifiedMatching -DOID:0050574 L-2-hydroxyglutaric aciduria oboInOwl:hasDbXref OMIM:236792 semapv:UnspecifiedMatching DOID:0050574 L-2-hydroxyglutaric aciduria oboInOwl:hasDbXref ORDO:79314 semapv:UnspecifiedMatching -DOID:0050574 L-2-hydroxyglutaric aciduria skos:exactMatch OMIM:236792 semapv:UnspecifiedMatching DOID:0050575 D-2-hydroxyglutaric aciduria oboInOwl:hasDbXref GARD:5661 semapv:UnspecifiedMatching -DOID:0050575 D-2-hydroxyglutaric aciduria oboInOwl:hasDbXref OMIMPS:600721 semapv:UnspecifiedMatching -DOID:0050575 D-2-hydroxyglutaric aciduria skos:exactMatch OMIMPS:600721 semapv:UnspecifiedMatching DOID:0050576 Senior-Loken syndrome oboInOwl:hasDbXref GARD:322 semapv:UnspecifiedMatching DOID:0050576 Senior-Loken syndrome oboInOwl:hasDbXref ICD10CM:Q61.5 semapv:UnspecifiedMatching DOID:0050576 Senior-Loken syndrome oboInOwl:hasDbXref MESH:C537580 semapv:UnspecifiedMatching -DOID:0050576 Senior-Loken syndrome oboInOwl:hasDbXref OMIM:266900 semapv:UnspecifiedMatching -DOID:0050576 Senior-Loken syndrome oboInOwl:hasDbXref OMIM:606995 semapv:UnspecifiedMatching -DOID:0050576 Senior-Loken syndrome oboInOwl:hasDbXref OMIM:606996 semapv:UnspecifiedMatching -DOID:0050576 Senior-Loken syndrome oboInOwl:hasDbXref OMIM:609254 semapv:UnspecifiedMatching -DOID:0050576 Senior-Loken syndrome oboInOwl:hasDbXref OMIM:610189 semapv:UnspecifiedMatching -DOID:0050576 Senior-Loken syndrome oboInOwl:hasDbXref OMIM:613615 semapv:UnspecifiedMatching -DOID:0050576 Senior-Loken syndrome oboInOwl:hasDbXref OMIMPS:266900 semapv:UnspecifiedMatching DOID:0050576 Senior-Loken syndrome oboInOwl:hasDbXref ORDO:3156 semapv:UnspecifiedMatching DOID:0050577 cranioectodermal dysplasia oboInOwl:hasDbXref MESH:C562966 semapv:UnspecifiedMatching -DOID:0050577 cranioectodermal dysplasia oboInOwl:hasDbXref OMIMPS:218330 semapv:UnspecifiedMatching -DOID:0050577 cranioectodermal dysplasia skos:exactMatch OMIMPS:218330 semapv:UnspecifiedMatching -DOID:0050578 occult macular dystrophy oboInOwl:hasDbXref OMIM:613587 semapv:UnspecifiedMatching -DOID:0050578 occult macular dystrophy skos:exactMatch OMIM:613587 semapv:UnspecifiedMatching -DOID:0050579 glycogen storage disease XV oboInOwl:hasDbXref OMIM:613507 semapv:UnspecifiedMatching DOID:0050579 glycogen storage disease XV oboInOwl:hasDbXref ORDO:263297 semapv:UnspecifiedMatching -DOID:0050579 glycogen storage disease XV skos:exactMatch OMIM:613507 semapv:UnspecifiedMatching DOID:0050580 hereditary lymphedema oboInOwl:hasDbXref GARD:7220 semapv:UnspecifiedMatching DOID:0050580 hereditary lymphedema oboInOwl:hasDbXref ICD9CM:757.0 semapv:UnspecifiedMatching -DOID:0050580 hereditary lymphedema oboInOwl:hasDbXref OMIMPS:153100 semapv:UnspecifiedMatching DOID:0050580 hereditary lymphedema oboInOwl:hasDbXref ORDO:79452 semapv:UnspecifiedMatching DOID:0050580 hereditary lymphedema oboInOwl:hasDbXref UMLS:C1313885 semapv:UnspecifiedMatching -DOID:0050580 hereditary lymphedema skos:exactMatch OMIMPS:153100 semapv:UnspecifiedMatching DOID:0050581 brachydactyly oboInOwl:hasDbXref GARD:11913 semapv:UnspecifiedMatching DOID:0050581 brachydactyly oboInOwl:hasDbXref MESH:D059327 semapv:UnspecifiedMatching DOID:0050581 brachydactyly oboInOwl:hasDbXref ORDO:294937 semapv:UnspecifiedMatching DOID:0050581 brachydactyly skos:exactMatch MESH:D059327 semapv:UnspecifiedMatching DOID:0050585 congenital generalized lipodystrophy oboInOwl:hasDbXref GARD:13388 semapv:UnspecifiedMatching -DOID:0050585 congenital generalized lipodystrophy oboInOwl:hasDbXref OMIMPS:608594 semapv:UnspecifiedMatching -DOID:0050585 congenital generalized lipodystrophy skos:exactMatch OMIMPS:608594 semapv:UnspecifiedMatching DOID:0050587 trichotillomania oboInOwl:hasDbXref GARD:7803 semapv:UnspecifiedMatching DOID:0050587 trichotillomania oboInOwl:hasDbXref MESH:D014256 semapv:UnspecifiedMatching -DOID:0050587 trichotillomania oboInOwl:hasDbXref OMIM:613229 semapv:UnspecifiedMatching -DOID:0050587 trichotillomania skos:exactMatch OMIM:613229 semapv:UnspecifiedMatching -DOID:0050588 muscular dystrophy-dystroglycanopathy type B1 oboInOwl:hasDbXref OMIM:613155 semapv:UnspecifiedMatching -DOID:0050588 muscular dystrophy-dystroglycanopathy type B1 skos:exactMatch OMIM:613155 semapv:UnspecifiedMatching DOID:0050589 inflammatory bowel disease oboInOwl:hasDbXref EFO:0003767 semapv:UnspecifiedMatching DOID:0050589 inflammatory bowel disease oboInOwl:hasDbXref KEGG:05321 semapv:UnspecifiedMatching DOID:0050589 inflammatory bowel disease oboInOwl:hasDbXref MESH:D015212 semapv:UnspecifiedMatching DOID:0050589 inflammatory bowel disease oboInOwl:hasDbXref NCI:C3138 semapv:UnspecifiedMatching -DOID:0050589 inflammatory bowel disease oboInOwl:hasDbXref OMIMPS:266600 semapv:UnspecifiedMatching DOID:0050589 inflammatory bowel disease oboInOwl:hasDbXref UMLS:C0021390 semapv:UnspecifiedMatching -DOID:0050589 inflammatory bowel disease skos:exactMatch OMIMPS:266600 semapv:UnspecifiedMatching DOID:0050590 severe congenital neutropenia oboInOwl:hasDbXref GARD:13592 semapv:UnspecifiedMatching DOID:0050590 severe congenital neutropenia oboInOwl:hasDbXref ICD10CM:D70 semapv:UnspecifiedMatching -DOID:0050590 severe congenital neutropenia oboInOwl:hasDbXref OMIMPS:202700 semapv:UnspecifiedMatching DOID:0050590 severe congenital neutropenia oboInOwl:hasDbXref ORDO:42738 semapv:UnspecifiedMatching -DOID:0050590 severe congenital neutropenia skos:exactMatch OMIMPS:202700 semapv:UnspecifiedMatching DOID:0050591 tooth agenesis oboInOwl:hasDbXref ICD10CM:K00.0 semapv:UnspecifiedMatching DOID:0050591 tooth agenesis oboInOwl:hasDbXref ICD9CM:520.0 semapv:UnspecifiedMatching DOID:0050591 tooth agenesis oboInOwl:hasDbXref MESH:D000848 semapv:UnspecifiedMatching DOID:0050591 tooth agenesis oboInOwl:hasDbXref NCI:C172328 semapv:UnspecifiedMatching -DOID:0050591 tooth agenesis oboInOwl:hasDbXref OMIM:106600 semapv:UnspecifiedMatching -DOID:0050591 tooth agenesis oboInOwl:hasDbXref OMIM:150400 semapv:UnspecifiedMatching -DOID:0050591 tooth agenesis oboInOwl:hasDbXref OMIM:313500 semapv:UnspecifiedMatching -DOID:0050591 tooth agenesis oboInOwl:hasDbXref OMIM:602639 semapv:UnspecifiedMatching -DOID:0050591 tooth agenesis oboInOwl:hasDbXref OMIM:604625 semapv:UnspecifiedMatching -DOID:0050591 tooth agenesis oboInOwl:hasDbXref OMIM:610926 semapv:UnspecifiedMatching -DOID:0050591 tooth agenesis oboInOwl:hasDbXref OMIMPS:106600 semapv:UnspecifiedMatching DOID:0050591 tooth agenesis oboInOwl:hasDbXref ORDO:2227 semapv:UnspecifiedMatching DOID:0050591 tooth agenesis oboInOwl:hasDbXref ORDO:99798 semapv:UnspecifiedMatching DOID:0050591 tooth agenesis oboInOwl:hasDbXref UMLS:C0399352 semapv:UnspecifiedMatching DOID:0050592 asphyxiating thoracic dystrophy oboInOwl:hasDbXref ICD10CM:Q77.2 semapv:UnspecifiedMatching -DOID:0050592 asphyxiating thoracic dystrophy oboInOwl:hasDbXref OMIMPS:208500 semapv:UnspecifiedMatching DOID:0050592 asphyxiating thoracic dystrophy oboInOwl:hasDbXref ORDO:474 semapv:UnspecifiedMatching -DOID:0050592 asphyxiating thoracic dystrophy skos:exactMatch OMIMPS:208500 semapv:UnspecifiedMatching -DOID:0050593 primary congenital glaucoma oboInOwl:hasDbXref OMIM:613085 semapv:UnspecifiedMatching -DOID:0050593 primary congenital glaucoma oboInOwl:hasDbXref OMIM:613086 semapv:UnspecifiedMatching DOID:0050596 taeniasis oboInOwl:hasDbXref ICD10CM:B68.1 semapv:UnspecifiedMatching DOID:0050596 taeniasis oboInOwl:hasDbXref ICD9CM:123.2 semapv:UnspecifiedMatching DOID:0050596 taeniasis oboInOwl:hasDbXref UMLS:C0152073 semapv:UnspecifiedMatching @@ -839,34 +624,18 @@ DOID:0050597 intestinal schistosomiasis oboInOwl:hasDbXref MESH:D012555 semapv:U DOID:0050597 intestinal schistosomiasis oboInOwl:hasDbXref NCI:C35001 semapv:UnspecifiedMatching DOID:0050597 intestinal schistosomiasis oboInOwl:hasDbXref NCI:C35002 semapv:UnspecifiedMatching DOID:0050597 intestinal schistosomiasis oboInOwl:hasDbXref NCI:C35364 semapv:UnspecifiedMatching -DOID:0050597 intestinal schistosomiasis oboInOwl:hasDbXref OMIM:181460 semapv:UnspecifiedMatching DOID:0050597 intestinal schistosomiasis oboInOwl:hasDbXref ORDO:1247 semapv:UnspecifiedMatching DOID:0050597 intestinal schistosomiasis oboInOwl:hasDbXref UMLS:C0036329 semapv:UnspecifiedMatching DOID:0050597 intestinal schistosomiasis oboInOwl:hasDbXref UMLS:C0036330 semapv:UnspecifiedMatching DOID:0050597 intestinal schistosomiasis oboInOwl:hasDbXref UMLS:C0276932 semapv:UnspecifiedMatching -DOID:0050597 intestinal schistosomiasis skos:exactMatch OMIM:181460 semapv:UnspecifiedMatching DOID:0050600 ABCD syndrome oboInOwl:hasDbXref MESH:C535334 semapv:UnspecifiedMatching -DOID:0050600 ABCD syndrome oboInOwl:hasDbXref OMIM:600501 semapv:UnspecifiedMatching -DOID:0050600 ABCD syndrome skos:exactMatch OMIM:600501 semapv:UnspecifiedMatching DOID:0050601 ADULT syndrome oboInOwl:hasDbXref GARD:384 semapv:UnspecifiedMatching -DOID:0050601 ADULT syndrome oboInOwl:hasDbXref OMIM:103285 semapv:UnspecifiedMatching -DOID:0050601 ADULT syndrome skos:exactMatch OMIM:103285 semapv:UnspecifiedMatching DOID:0050602 triple-A syndrome oboInOwl:hasDbXref GARD:457 semapv:UnspecifiedMatching -DOID:0050602 triple-A syndrome oboInOwl:hasDbXref OMIM:231550 semapv:UnspecifiedMatching -DOID:0050602 triple-A syndrome skos:exactMatch OMIM:231550 semapv:UnspecifiedMatching DOID:0050603 acheiropody oboInOwl:hasDbXref GARD:376 semapv:UnspecifiedMatching -DOID:0050603 acheiropody oboInOwl:hasDbXref OMIM:200500 semapv:UnspecifiedMatching -DOID:0050603 acheiropody skos:exactMatch OMIM:200500 semapv:UnspecifiedMatching DOID:0050604 acrocapitofemoral dysplasia oboInOwl:hasDbXref GARD:10605 semapv:UnspecifiedMatching DOID:0050604 acrocapitofemoral dysplasia oboInOwl:hasDbXref MESH:C564334 semapv:UnspecifiedMatching -DOID:0050604 acrocapitofemoral dysplasia oboInOwl:hasDbXref OMIM:607778 semapv:UnspecifiedMatching -DOID:0050604 acrocapitofemoral dysplasia skos:exactMatch OMIM:607778 semapv:UnspecifiedMatching DOID:0050605 acrodermatitis enteropathica oboInOwl:hasDbXref GARD:5723 semapv:UnspecifiedMatching DOID:0050605 acrodermatitis enteropathica oboInOwl:hasDbXref MESH:C538178 semapv:UnspecifiedMatching -DOID:0050605 acrodermatitis enteropathica oboInOwl:hasDbXref OMIM:201100 semapv:UnspecifiedMatching -DOID:0050605 acrodermatitis enteropathica skos:exactMatch OMIM:201100 semapv:UnspecifiedMatching -DOID:0050606 acrokeratosis verruciformis oboInOwl:hasDbXref OMIM:101900 semapv:UnspecifiedMatching -DOID:0050606 acrokeratosis verruciformis skos:exactMatch OMIM:101900 semapv:UnspecifiedMatching DOID:0050619 paranasal sinus cancer oboInOwl:hasDbXref MESH:D010255 semapv:UnspecifiedMatching DOID:0050619 paranasal sinus cancer oboInOwl:hasDbXref NCI:C6014 semapv:UnspecifiedMatching DOID:0050619 paranasal sinus cancer oboInOwl:hasDbXref NCI:C6017 semapv:UnspecifiedMatching @@ -880,271 +649,135 @@ DOID:0050619 paranasal sinus cancer oboInOwl:hasDbXref UMLS:C1335337 semapv:Unsp DOID:0050619 paranasal sinus cancer oboInOwl:hasDbXref UMLS:C1335340 semapv:UnspecifiedMatching DOID:0050625 biliary tract benign neoplasm oboInOwl:hasDbXref NCI:C4441 semapv:UnspecifiedMatching DOID:0050625 biliary tract benign neoplasm oboInOwl:hasDbXref UMLS:C0345913 semapv:UnspecifiedMatching -DOID:0050628 advanced sleep phase syndrome oboInOwl:hasDbXref OMIMPS:604348 semapv:UnspecifiedMatching DOID:0050628 advanced sleep phase syndrome oboInOwl:hasDbXref ORDO:164736 semapv:UnspecifiedMatching -DOID:0050628 advanced sleep phase syndrome skos:exactMatch OMIMPS:604348 semapv:UnspecifiedMatching DOID:0050629 Aicardi-Goutieres syndrome oboInOwl:hasDbXref GARD:575 semapv:UnspecifiedMatching DOID:0050629 Aicardi-Goutieres syndrome oboInOwl:hasDbXref ICD10CM:G31.8 semapv:UnspecifiedMatching -DOID:0050629 Aicardi-Goutieres syndrome oboInOwl:hasDbXref OMIM:225750 semapv:UnspecifiedMatching -DOID:0050629 Aicardi-Goutieres syndrome oboInOwl:hasDbXref OMIM:610181 semapv:UnspecifiedMatching -DOID:0050629 Aicardi-Goutieres syndrome oboInOwl:hasDbXref OMIM:610329 semapv:UnspecifiedMatching -DOID:0050629 Aicardi-Goutieres syndrome oboInOwl:hasDbXref OMIM:610333 semapv:UnspecifiedMatching -DOID:0050629 Aicardi-Goutieres syndrome oboInOwl:hasDbXref OMIM:612952 semapv:UnspecifiedMatching -DOID:0050629 Aicardi-Goutieres syndrome oboInOwl:hasDbXref OMIM:615010 semapv:UnspecifiedMatching -DOID:0050629 Aicardi-Goutieres syndrome oboInOwl:hasDbXref OMIM:615846 semapv:UnspecifiedMatching -DOID:0050629 Aicardi-Goutieres syndrome oboInOwl:hasDbXref OMIMPS:225750 semapv:UnspecifiedMatching DOID:0050629 Aicardi-Goutieres syndrome oboInOwl:hasDbXref ORDO:51 semapv:UnspecifiedMatching DOID:0050630 Aland Island eye disease oboInOwl:hasDbXref GARD:10574 semapv:UnspecifiedMatching DOID:0050630 Aland Island eye disease oboInOwl:hasDbXref MESH:C562664 semapv:UnspecifiedMatching -DOID:0050630 Aland Island eye disease oboInOwl:hasDbXref OMIM:300600 semapv:UnspecifiedMatching -DOID:0050630 Aland Island eye disease skos:exactMatch OMIM:300600 semapv:UnspecifiedMatching DOID:0050631 Allan-Herndon-Dudley syndrome oboInOwl:hasDbXref GARD:5617 semapv:UnspecifiedMatching DOID:0050631 Allan-Herndon-Dudley syndrome oboInOwl:hasDbXref MESH:C537047 semapv:UnspecifiedMatching -DOID:0050631 Allan-Herndon-Dudley syndrome oboInOwl:hasDbXref OMIM:300523 semapv:UnspecifiedMatching DOID:0050631 Allan-Herndon-Dudley syndrome oboInOwl:hasDbXref ORDO:59 semapv:UnspecifiedMatching -DOID:0050631 Allan-Herndon-Dudley syndrome skos:exactMatch OMIM:300523 semapv:UnspecifiedMatching DOID:0050632 oculocutaneous albinism oboInOwl:hasDbXref GARD:10958 semapv:UnspecifiedMatching DOID:0050632 oculocutaneous albinism oboInOwl:hasDbXref ICD10CM:E70.3 semapv:UnspecifiedMatching DOID:0050632 oculocutaneous albinism oboInOwl:hasDbXref MESH:D016115 semapv:UnspecifiedMatching -DOID:0050632 oculocutaneous albinism oboInOwl:hasDbXref OMIMPS:203100 semapv:UnspecifiedMatching DOID:0050632 oculocutaneous albinism oboInOwl:hasDbXref ORDO:55 semapv:UnspecifiedMatching -DOID:0050632 oculocutaneous albinism skos:exactMatch OMIMPS:203100 semapv:UnspecifiedMatching DOID:0050633 ocular albinism 1 oboInOwl:hasDbXref MESH:D016117 semapv:UnspecifiedMatching -DOID:0050633 ocular albinism 1 oboInOwl:hasDbXref OMIM:300500 semapv:UnspecifiedMatching -DOID:0050633 ocular albinism 1 skos:exactMatch OMIM:300500 semapv:UnspecifiedMatching DOID:0050634 alopecia universalis oboInOwl:hasDbXref GARD:614 semapv:UnspecifiedMatching DOID:0050634 alopecia universalis oboInOwl:hasDbXref MESH:C537055 semapv:UnspecifiedMatching -DOID:0050634 alopecia universalis oboInOwl:hasDbXref OMIM:203655 semapv:UnspecifiedMatching -DOID:0050634 alopecia universalis skos:exactMatch OMIM:203655 semapv:UnspecifiedMatching DOID:0050635 alternating hemiplegia of childhood oboInOwl:hasDbXref GARD:11 semapv:UnspecifiedMatching DOID:0050635 alternating hemiplegia of childhood oboInOwl:hasDbXref ICD10CM:G98 semapv:UnspecifiedMatching DOID:0050635 alternating hemiplegia of childhood oboInOwl:hasDbXref MESH:C536589 semapv:UnspecifiedMatching -DOID:0050635 alternating hemiplegia of childhood oboInOwl:hasDbXref OMIM:104290 semapv:UnspecifiedMatching -DOID:0050635 alternating hemiplegia of childhood oboInOwl:hasDbXref OMIM:614820 semapv:UnspecifiedMatching -DOID:0050635 alternating hemiplegia of childhood oboInOwl:hasDbXref OMIMPS:104290 semapv:UnspecifiedMatching DOID:0050635 alternating hemiplegia of childhood oboInOwl:hasDbXref ORDO:2131 semapv:UnspecifiedMatching DOID:0050636 familial visceral amyloidosis oboInOwl:hasDbXref GARD:8282 semapv:UnspecifiedMatching -DOID:0050636 familial visceral amyloidosis oboInOwl:hasDbXref OMIM:105200 semapv:UnspecifiedMatching DOID:0050636 familial visceral amyloidosis oboInOwl:hasDbXref ORDO:85450 semapv:UnspecifiedMatching -DOID:0050636 familial visceral amyloidosis skos:exactMatch OMIM:105200 semapv:UnspecifiedMatching DOID:0050637 Finnish type amyloidosis oboInOwl:hasDbXref GARD:2339 semapv:UnspecifiedMatching -DOID:0050637 Finnish type amyloidosis oboInOwl:hasDbXref OMIM:105120 semapv:UnspecifiedMatching DOID:0050637 Finnish type amyloidosis oboInOwl:hasDbXref ORDO:85448 semapv:UnspecifiedMatching -DOID:0050637 Finnish type amyloidosis skos:exactMatch OMIM:105120 semapv:UnspecifiedMatching DOID:0050638 transthyretin amyloidosis oboInOwl:hasDbXref GARD:656 semapv:UnspecifiedMatching DOID:0050638 transthyretin amyloidosis oboInOwl:hasDbXref ICD10CM:E85.82 semapv:UnspecifiedMatching -DOID:0050638 transthyretin amyloidosis oboInOwl:hasDbXref OMIM:105210 semapv:UnspecifiedMatching DOID:0050638 transthyretin amyloidosis oboInOwl:hasDbXref ORDO:85447 semapv:UnspecifiedMatching -DOID:0050638 transthyretin amyloidosis skos:exactMatch OMIM:105210 semapv:UnspecifiedMatching DOID:0050639 primary cutaneous amyloidosis oboInOwl:hasDbXref GARD:132 semapv:UnspecifiedMatching -DOID:0050639 primary cutaneous amyloidosis oboInOwl:hasDbXref OMIMPS:105250 semapv:UnspecifiedMatching DOID:0050639 primary cutaneous amyloidosis oboInOwl:hasDbXref ORDO:137807 semapv:UnspecifiedMatching DOID:0050639 primary cutaneous amyloidosis oboInOwl:hasDbXref ORDO:353220 semapv:UnspecifiedMatching -DOID:0050639 primary cutaneous amyloidosis skos:exactMatch OMIMPS:105250 semapv:UnspecifiedMatching -DOID:0050640 anauxetic dysplasia 1 oboInOwl:hasDbXref OMIM:607095 semapv:UnspecifiedMatching -DOID:0050640 anauxetic dysplasia 1 skos:exactMatch OMIM:607095 semapv:UnspecifiedMatching DOID:0050641 Rh deficiency syndrome oboInOwl:hasDbXref GARD:12916 semapv:UnspecifiedMatching DOID:0050641 Rh deficiency syndrome oboInOwl:hasDbXref MESH:C562717 semapv:UnspecifiedMatching -DOID:0050641 Rh deficiency syndrome oboInOwl:hasDbXref OMIM:268150 semapv:UnspecifiedMatching -DOID:0050641 Rh deficiency syndrome skos:exactMatch OMIM:268150 semapv:UnspecifiedMatching -DOID:0050642 hypochromic microcytic anemia oboInOwl:hasDbXref OMIM:206100 semapv:UnspecifiedMatching -DOID:0050642 hypochromic microcytic anemia oboInOwl:hasDbXref OMIM:615234 semapv:UnspecifiedMatching DOID:0050644 arterial calcification of infancy oboInOwl:hasDbXref GARD:8380 semapv:UnspecifiedMatching DOID:0050644 arterial calcification of infancy oboInOwl:hasDbXref MESH:C537440 semapv:UnspecifiedMatching -DOID:0050644 arterial calcification of infancy oboInOwl:hasDbXref OMIM:208000 semapv:UnspecifiedMatching -DOID:0050644 arterial calcification of infancy oboInOwl:hasDbXref OMIM:614473 semapv:UnspecifiedMatching DOID:0050644 arterial calcification of infancy oboInOwl:hasDbXref ORDO:51608 semapv:UnspecifiedMatching DOID:0050645 arterial tortuosity syndrome oboInOwl:hasDbXref GARD:774 semapv:UnspecifiedMatching DOID:0050645 arterial tortuosity syndrome oboInOwl:hasDbXref MESH:C565942 semapv:UnspecifiedMatching -DOID:0050645 arterial tortuosity syndrome oboInOwl:hasDbXref OMIM:208050 semapv:UnspecifiedMatching -DOID:0050645 arterial tortuosity syndrome skos:exactMatch OMIM:208050 semapv:UnspecifiedMatching DOID:0050646 distal arthrogryposis oboInOwl:hasDbXref GARD:786 semapv:UnspecifiedMatching -DOID:0050646 distal arthrogryposis oboInOwl:hasDbXref OMIMPS:108120 semapv:UnspecifiedMatching DOID:0050646 distal arthrogryposis oboInOwl:hasDbXref ORDO:1147 semapv:UnspecifiedMatching DOID:0050646 distal arthrogryposis oboInOwl:hasDbXref ORDO:97120 semapv:UnspecifiedMatching -DOID:0050646 distal arthrogryposis skos:exactMatch OMIMPS:108120 semapv:UnspecifiedMatching DOID:0050647 Arts syndrome oboInOwl:hasDbXref GARD:8756 semapv:UnspecifiedMatching DOID:0050647 Arts syndrome oboInOwl:hasDbXref MESH:C535388 semapv:UnspecifiedMatching -DOID:0050647 Arts syndrome oboInOwl:hasDbXref OMIM:301835 semapv:UnspecifiedMatching DOID:0050647 Arts syndrome oboInOwl:hasDbXref ORDO:1187 semapv:UnspecifiedMatching DOID:0050647 Arts syndrome oboInOwl:hasDbXref UMLS:C0796028 semapv:UnspecifiedMatching -DOID:0050647 Arts syndrome skos:exactMatch OMIM:301835 semapv:UnspecifiedMatching -DOID:0050648 atelosteogenesis oboInOwl:hasDbXref OMIM:108720 semapv:UnspecifiedMatching -DOID:0050648 atelosteogenesis oboInOwl:hasDbXref OMIM:108721 semapv:UnspecifiedMatching -DOID:0050648 atelosteogenesis oboInOwl:hasDbXref OMIM:256050 semapv:UnspecifiedMatching DOID:0050649 atransferrinemia oboInOwl:hasDbXref GARD:9595 semapv:UnspecifiedMatching DOID:0050649 atransferrinemia oboInOwl:hasDbXref NCI:C125693 semapv:UnspecifiedMatching -DOID:0050649 atransferrinemia oboInOwl:hasDbXref OMIM:209300 semapv:UnspecifiedMatching DOID:0050649 atransferrinemia oboInOwl:hasDbXref ORDO:1195 semapv:UnspecifiedMatching -DOID:0050649 atransferrinemia skos:exactMatch OMIM:209300 semapv:UnspecifiedMatching DOID:0050650 familial atrial fibrillation oboInOwl:hasDbXref GARD:9740 semapv:UnspecifiedMatching -DOID:0050650 familial atrial fibrillation oboInOwl:hasDbXref OMIM:607554 semapv:UnspecifiedMatching -DOID:0050650 familial atrial fibrillation oboInOwl:hasDbXref OMIM:608583 semapv:UnspecifiedMatching -DOID:0050650 familial atrial fibrillation oboInOwl:hasDbXref OMIM:608988 semapv:UnspecifiedMatching -DOID:0050650 familial atrial fibrillation oboInOwl:hasDbXref OMIM:611493 semapv:UnspecifiedMatching -DOID:0050650 familial atrial fibrillation oboInOwl:hasDbXref OMIM:611494 semapv:UnspecifiedMatching -DOID:0050650 familial atrial fibrillation oboInOwl:hasDbXref OMIM:612201 semapv:UnspecifiedMatching -DOID:0050650 familial atrial fibrillation oboInOwl:hasDbXref OMIM:612240 semapv:UnspecifiedMatching -DOID:0050650 familial atrial fibrillation oboInOwl:hasDbXref OMIM:613055 semapv:UnspecifiedMatching -DOID:0050650 familial atrial fibrillation oboInOwl:hasDbXref OMIM:613980 semapv:UnspecifiedMatching -DOID:0050650 familial atrial fibrillation oboInOwl:hasDbXref OMIM:614022 semapv:UnspecifiedMatching -DOID:0050650 familial atrial fibrillation oboInOwl:hasDbXref OMIM:614049 semapv:UnspecifiedMatching -DOID:0050650 familial atrial fibrillation oboInOwl:hasDbXref OMIM:614050 semapv:UnspecifiedMatching -DOID:0050650 familial atrial fibrillation oboInOwl:hasDbXref OMIM:615377 semapv:UnspecifiedMatching -DOID:0050650 familial atrial fibrillation oboInOwl:hasDbXref OMIM:615378 semapv:UnspecifiedMatching -DOID:0050650 familial atrial fibrillation oboInOwl:hasDbXref OMIM:615770 semapv:UnspecifiedMatching -DOID:0050650 familial atrial fibrillation oboInOwl:hasDbXref OMIMPS:608583 semapv:UnspecifiedMatching DOID:0050650 familial atrial fibrillation oboInOwl:hasDbXref ORDO:334 semapv:UnspecifiedMatching DOID:0050651 atrioventricular septal defect oboInOwl:hasDbXref GARD:802 semapv:UnspecifiedMatching DOID:0050651 atrioventricular septal defect oboInOwl:hasDbXref ICD10CM:Q21.2 semapv:UnspecifiedMatching DOID:0050651 atrioventricular septal defect oboInOwl:hasDbXref ICD9CM:745.6 semapv:UnspecifiedMatching DOID:0050651 atrioventricular septal defect oboInOwl:hasDbXref MESH:D004694 semapv:UnspecifiedMatching -DOID:0050651 atrioventricular septal defect oboInOwl:hasDbXref OMIM:606215 semapv:UnspecifiedMatching -DOID:0050651 atrioventricular septal defect oboInOwl:hasDbXref OMIM:614430 semapv:UnspecifiedMatching -DOID:0050651 atrioventricular septal defect oboInOwl:hasDbXref OMIM:614474 semapv:UnspecifiedMatching DOID:0050651 atrioventricular septal defect oboInOwl:hasDbXref ORDO:98722 semapv:UnspecifiedMatching DOID:0050651 atrioventricular septal defect oboInOwl:hasDbXref UMLS:C0014116 semapv:UnspecifiedMatching DOID:0050654 Baller-Gerold syndrome oboInOwl:hasDbXref GARD:1602 semapv:UnspecifiedMatching DOID:0050654 Baller-Gerold syndrome oboInOwl:hasDbXref MESH:C536788 semapv:UnspecifiedMatching -DOID:0050654 Baller-Gerold syndrome oboInOwl:hasDbXref OMIM:218600 semapv:UnspecifiedMatching DOID:0050654 Baller-Gerold syndrome oboInOwl:hasDbXref ORDO:1223 semapv:UnspecifiedMatching DOID:0050654 Baller-Gerold syndrome oboInOwl:hasDbXref UMLS:C0265308 semapv:UnspecifiedMatching -DOID:0050654 Baller-Gerold syndrome skos:exactMatch OMIM:218600 semapv:UnspecifiedMatching -DOID:0050655 Bamforth-Lazarus syndrome oboInOwl:hasDbXref OMIM:241850 semapv:UnspecifiedMatching -DOID:0050655 Bamforth-Lazarus syndrome skos:exactMatch OMIM:241850 semapv:UnspecifiedMatching DOID:0050656 pseudo-TORCH syndrome 1 oboInOwl:hasDbXref GARD:12426 semapv:UnspecifiedMatching -DOID:0050656 pseudo-TORCH syndrome 1 oboInOwl:hasDbXref OMIM:251290 semapv:UnspecifiedMatching DOID:0050656 pseudo-TORCH syndrome 1 oboInOwl:hasDbXref ORDO:1229 semapv:UnspecifiedMatching -DOID:0050656 pseudo-TORCH syndrome 1 skos:exactMatch OMIM:251290 semapv:UnspecifiedMatching DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome oboInOwl:hasDbXref GARD:5887 semapv:UnspecifiedMatching DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome oboInOwl:hasDbXref ICD10CM:Q87.89 semapv:UnspecifiedMatching DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome oboInOwl:hasDbXref MESH:D006223 semapv:UnspecifiedMatching DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome oboInOwl:hasDbXref NCI:C3939 semapv:UnspecifiedMatching -DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome oboInOwl:hasDbXref OMIM:158350 semapv:UnspecifiedMatching DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome oboInOwl:hasDbXref ORDO:109 semapv:UnspecifiedMatching -DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome skos:exactMatch OMIM:158350 semapv:UnspecifiedMatching -DOID:0050658 Bart-Pumphrey syndrome oboInOwl:hasDbXref OMIM:149200 semapv:UnspecifiedMatching -DOID:0050658 Bart-Pumphrey syndrome skos:exactMatch OMIM:149200 semapv:UnspecifiedMatching DOID:0050659 biotin-responsive basal ganglia disease oboInOwl:hasDbXref MESH:C537658 semapv:UnspecifiedMatching -DOID:0050659 biotin-responsive basal ganglia disease oboInOwl:hasDbXref OMIM:607483 semapv:UnspecifiedMatching -DOID:0050659 biotin-responsive basal ganglia disease skos:exactMatch OMIM:607483 semapv:UnspecifiedMatching DOID:0050660 Beare-Stevenson cutis gyrata syndrome oboInOwl:hasDbXref GARD:332 semapv:UnspecifiedMatching -DOID:0050660 Beare-Stevenson cutis gyrata syndrome oboInOwl:hasDbXref OMIM:123790 semapv:UnspecifiedMatching -DOID:0050660 Beare-Stevenson cutis gyrata syndrome skos:exactMatch OMIM:123790 semapv:UnspecifiedMatching DOID:0050661 vitelliform macular dystrophy oboInOwl:hasDbXref GARD:10120 semapv:UnspecifiedMatching DOID:0050661 vitelliform macular dystrophy oboInOwl:hasDbXref GARD:182 semapv:UnspecifiedMatching DOID:0050661 vitelliform macular dystrophy oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0050661 vitelliform macular dystrophy oboInOwl:hasDbXref MESH:D057826 semapv:UnspecifiedMatching -DOID:0050661 vitelliform macular dystrophy oboInOwl:hasDbXref OMIM:153700 semapv:UnspecifiedMatching -DOID:0050661 vitelliform macular dystrophy oboInOwl:hasDbXref OMIM:153840 semapv:UnspecifiedMatching -DOID:0050661 vitelliform macular dystrophy oboInOwl:hasDbXref OMIM:608161 semapv:UnspecifiedMatching -DOID:0050661 vitelliform macular dystrophy oboInOwl:hasDbXref OMIM:616151 semapv:UnspecifiedMatching -DOID:0050661 vitelliform macular dystrophy oboInOwl:hasDbXref OMIM:616152 semapv:UnspecifiedMatching DOID:0050661 vitelliform macular dystrophy oboInOwl:hasDbXref ORDO:1243 semapv:UnspecifiedMatching DOID:0050661 vitelliform macular dystrophy oboInOwl:hasDbXref ORDO:99000 semapv:UnspecifiedMatching DOID:0050662 bestrophinopathy oboInOwl:hasDbXref MESH:C567518 semapv:UnspecifiedMatching -DOID:0050662 bestrophinopathy oboInOwl:hasDbXref OMIM:611809 semapv:UnspecifiedMatching -DOID:0050662 bestrophinopathy skos:exactMatch OMIM:611809 semapv:UnspecifiedMatching DOID:0050663 Bethlem myopathy oboInOwl:hasDbXref GARD:873 semapv:UnspecifiedMatching DOID:0050663 Bethlem myopathy oboInOwl:hasDbXref MESH:C535436 semapv:UnspecifiedMatching -DOID:0050663 Bethlem myopathy oboInOwl:hasDbXref OMIM:158810 semapv:UnspecifiedMatching -DOID:0050663 Bethlem myopathy skos:exactMatch OMIM:158810 semapv:UnspecifiedMatching DOID:0050664 Bietti crystalline corneoretinal dystrophy oboInOwl:hasDbXref GARD:10050 semapv:UnspecifiedMatching -DOID:0050664 Bietti crystalline corneoretinal dystrophy oboInOwl:hasDbXref OMIM:210370 semapv:UnspecifiedMatching -DOID:0050664 Bietti crystalline corneoretinal dystrophy skos:exactMatch OMIM:210370 semapv:UnspecifiedMatching DOID:0050665 fetal alcohol syndrome oboInOwl:hasDbXref ICD10CM:Q86.0 semapv:UnspecifiedMatching DOID:0050670 ataxic cerebral palsy oboInOwl:hasDbXref GARD:10451 semapv:UnspecifiedMatching -DOID:0050670 ataxic cerebral palsy oboInOwl:hasDbXref OMIM:605388 semapv:UnspecifiedMatching -DOID:0050670 ataxic cerebral palsy skos:exactMatch OMIM:605388 semapv:UnspecifiedMatching DOID:0050674 congenital bile acid synthesis defect oboInOwl:hasDbXref ICD10CM:K76.8 semapv:UnspecifiedMatching DOID:0050674 congenital bile acid synthesis defect oboInOwl:hasDbXref ORDO:485631 semapv:UnspecifiedMatching DOID:0050675 Birk-Barel syndrome oboInOwl:hasDbXref GARD:10358 semapv:UnspecifiedMatching DOID:0050675 Birk-Barel syndrome oboInOwl:hasDbXref MESH:C567357 semapv:UnspecifiedMatching -DOID:0050675 Birk-Barel syndrome oboInOwl:hasDbXref OMIM:612292 semapv:UnspecifiedMatching -DOID:0050675 Birk-Barel syndrome skos:exactMatch OMIM:612292 semapv:UnspecifiedMatching DOID:0050676 Birt-Hogg-Dube syndrome oboInOwl:hasDbXref GARD:2322 semapv:UnspecifiedMatching DOID:0050676 Birt-Hogg-Dube syndrome oboInOwl:hasDbXref MESH:D058249 semapv:UnspecifiedMatching -DOID:0050676 Birt-Hogg-Dube syndrome oboInOwl:hasDbXref OMIM:135150 semapv:UnspecifiedMatching -DOID:0050676 Birt-Hogg-Dube syndrome skos:exactMatch OMIM:135150 semapv:UnspecifiedMatching DOID:0050677 Bjornstad syndrome oboInOwl:hasDbXref GARD:22 semapv:UnspecifiedMatching DOID:0050677 Bjornstad syndrome oboInOwl:hasDbXref MESH:C537633 semapv:UnspecifiedMatching -DOID:0050677 Bjornstad syndrome oboInOwl:hasDbXref OMIM:262000 semapv:UnspecifiedMatching DOID:0050677 Bjornstad syndrome oboInOwl:hasDbXref ORDO:123 semapv:UnspecifiedMatching DOID:0050677 Bjornstad syndrome oboInOwl:hasDbXref UMLS:C0266006 semapv:UnspecifiedMatching -DOID:0050677 Bjornstad syndrome skos:exactMatch OMIM:262000 semapv:UnspecifiedMatching DOID:0050678 Blau syndrome oboInOwl:hasDbXref GARD:304 semapv:UnspecifiedMatching DOID:0050678 Blau syndrome oboInOwl:hasDbXref MESH:C538157 semapv:UnspecifiedMatching DOID:0050678 Blau syndrome oboInOwl:hasDbXref NCI:C116794 semapv:UnspecifiedMatching -DOID:0050678 Blau syndrome oboInOwl:hasDbXref OMIM:186580 semapv:UnspecifiedMatching -DOID:0050678 Blau syndrome skos:exactMatch OMIM:186580 semapv:UnspecifiedMatching DOID:0050679 blue cone monochromacy oboInOwl:hasDbXref GARD:917 semapv:UnspecifiedMatching -DOID:0050679 blue cone monochromacy oboInOwl:hasDbXref OMIM:303700 semapv:UnspecifiedMatching -DOID:0050679 blue cone monochromacy skos:exactMatch OMIM:303700 semapv:UnspecifiedMatching DOID:0050680 Boomerang dysplasia oboInOwl:hasDbXref GARD:933 semapv:UnspecifiedMatching DOID:0050680 Boomerang dysplasia oboInOwl:hasDbXref MESH:C536573 semapv:UnspecifiedMatching -DOID:0050680 Boomerang dysplasia oboInOwl:hasDbXref OMIM:112310 semapv:UnspecifiedMatching -DOID:0050680 Boomerang dysplasia skos:exactMatch OMIM:112310 semapv:UnspecifiedMatching DOID:0050681 Borjeson-Forssman-Lehmann syndrome oboInOwl:hasDbXref GARD:936 semapv:UnspecifiedMatching DOID:0050681 Borjeson-Forssman-Lehmann syndrome oboInOwl:hasDbXref MESH:C536575 semapv:UnspecifiedMatching DOID:0050681 Borjeson-Forssman-Lehmann syndrome oboInOwl:hasDbXref NCI:C157122 semapv:UnspecifiedMatching -DOID:0050681 Borjeson-Forssman-Lehmann syndrome oboInOwl:hasDbXref OMIM:301900 semapv:UnspecifiedMatching DOID:0050681 Borjeson-Forssman-Lehmann syndrome oboInOwl:hasDbXref ORDO:127 semapv:UnspecifiedMatching DOID:0050681 Borjeson-Forssman-Lehmann syndrome oboInOwl:hasDbXref UMLS:C0265339 semapv:UnspecifiedMatching -DOID:0050681 Borjeson-Forssman-Lehmann syndrome skos:exactMatch OMIM:301900 semapv:UnspecifiedMatching -DOID:0050682 Athabaskan brainstem dysgenesis syndrome oboInOwl:hasDbXref OMIM:601536 semapv:UnspecifiedMatching DOID:0050682 Athabaskan brainstem dysgenesis syndrome oboInOwl:hasDbXref ORDO:69739 semapv:UnspecifiedMatching -DOID:0050682 Athabaskan brainstem dysgenesis syndrome skos:exactMatch OMIM:601536 semapv:UnspecifiedMatching DOID:0050683 Bothnia retinal dystrophy oboInOwl:hasDbXref MESH:C564392 semapv:UnspecifiedMatching -DOID:0050683 Bothnia retinal dystrophy oboInOwl:hasDbXref OMIM:607475 semapv:UnspecifiedMatching -DOID:0050683 Bothnia retinal dystrophy skos:exactMatch OMIM:607475 semapv:UnspecifiedMatching DOID:0050684 Bowen-Conradi syndrome oboInOwl:hasDbXref GARD:5950 semapv:UnspecifiedMatching DOID:0050684 Bowen-Conradi syndrome oboInOwl:hasDbXref MESH:C537081 semapv:UnspecifiedMatching -DOID:0050684 Bowen-Conradi syndrome oboInOwl:hasDbXref OMIM:211180 semapv:UnspecifiedMatching DOID:0050684 Bowen-Conradi syndrome oboInOwl:hasDbXref ORDO:1270 semapv:UnspecifiedMatching DOID:0050684 Bowen-Conradi syndrome oboInOwl:hasDbXref UMLS:C1859405 semapv:UnspecifiedMatching -DOID:0050684 Bowen-Conradi syndrome skos:exactMatch OMIM:211180 semapv:UnspecifiedMatching DOID:0050685 small cell carcinoma oboInOwl:hasDbXref ICDO:8041/3 semapv:UnspecifiedMatching DOID:0050685 small cell carcinoma oboInOwl:hasDbXref NCI:C4099 semapv:UnspecifiedMatching DOID:0050685 small cell carcinoma oboInOwl:hasDbXref UMLS:C0334239 semapv:UnspecifiedMatching DOID:0050686 organ system cancer oboInOwl:hasDbXref MESH:D009371 semapv:UnspecifiedMatching DOID:0050689 brachydactyly-syndactyly syndrome oboInOwl:hasDbXref MESH:C565193 semapv:UnspecifiedMatching -DOID:0050689 brachydactyly-syndactyly syndrome oboInOwl:hasDbXref OMIM:610713 semapv:UnspecifiedMatching -DOID:0050689 brachydactyly-syndactyly syndrome skos:exactMatch OMIM:610713 semapv:UnspecifiedMatching DOID:0050690 brachyolmia oboInOwl:hasDbXref GARD:10903 semapv:UnspecifiedMatching DOID:0050690 brachyolmia oboInOwl:hasDbXref MESH:C537098 semapv:UnspecifiedMatching -DOID:0050690 brachyolmia oboInOwl:hasDbXref OMIM:113500 semapv:UnspecifiedMatching -DOID:0050690 brachyolmia oboInOwl:hasDbXref OMIM:271530 semapv:UnspecifiedMatching -DOID:0050690 brachyolmia oboInOwl:hasDbXref OMIM:271630 semapv:UnspecifiedMatching -DOID:0050690 brachyolmia oboInOwl:hasDbXref OMIM:613678 semapv:UnspecifiedMatching DOID:0050690 brachyolmia oboInOwl:hasDbXref ORDO:1293 semapv:UnspecifiedMatching DOID:0050691 branchiooculofacial syndrome oboInOwl:hasDbXref GARD:3212 semapv:UnspecifiedMatching -DOID:0050691 branchiooculofacial syndrome oboInOwl:hasDbXref OMIM:113620 semapv:UnspecifiedMatching -DOID:0050691 branchiooculofacial syndrome skos:exactMatch OMIM:113620 semapv:UnspecifiedMatching DOID:0050692 Brody myopathy oboInOwl:hasDbXref GARD:9158 semapv:UnspecifiedMatching DOID:0050692 Brody myopathy oboInOwl:hasDbXref MESH:C536607 semapv:UnspecifiedMatching -DOID:0050692 Brody myopathy oboInOwl:hasDbXref OMIM:601003 semapv:UnspecifiedMatching -DOID:0050692 Brody myopathy skos:exactMatch OMIM:601003 semapv:UnspecifiedMatching DOID:0050693 Brooke-Spiegler syndrome oboInOwl:hasDbXref GARD:10179 semapv:UnspecifiedMatching -DOID:0050693 Brooke-Spiegler syndrome oboInOwl:hasDbXref OMIM:605041 semapv:UnspecifiedMatching DOID:0050693 Brooke-Spiegler syndrome oboInOwl:hasDbXref ORDO:79493 semapv:UnspecifiedMatching DOID:0050693 Brooke-Spiegler syndrome oboInOwl:hasDbXref UMLS:C1857941 semapv:UnspecifiedMatching -DOID:0050693 Brooke-Spiegler syndrome skos:exactMatch OMIM:605041 semapv:UnspecifiedMatching DOID:0050694 Brown-Vialetto-Van Laere syndrome oboInOwl:hasDbXref MESH:C537111 semapv:UnspecifiedMatching -DOID:0050694 Brown-Vialetto-Van Laere syndrome oboInOwl:hasDbXref OMIMPS:211530 semapv:UnspecifiedMatching DOID:0050694 Brown-Vialetto-Van Laere syndrome skos:exactMatch MESH:C537111 semapv:UnspecifiedMatching -DOID:0050694 Brown-Vialetto-Van Laere syndrome skos:exactMatch OMIMPS:211530 semapv:UnspecifiedMatching DOID:0050697 chorioamnionitis oboInOwl:hasDbXref MESH:D002821 semapv:UnspecifiedMatching DOID:0050699 Dent disease oboInOwl:hasDbXref GARD:13105 semapv:UnspecifiedMatching -DOID:0050699 Dent disease oboInOwl:hasDbXref MESH:C538212 semapv:UnspecifiedMatching -DOID:0050699 Dent disease oboInOwl:hasDbXref MESH:C564487 semapv:UnspecifiedMatching DOID:0050699 Dent disease oboInOwl:hasDbXref MESH:D057973 semapv:UnspecifiedMatching DOID:0050699 Dent disease oboInOwl:hasDbXref NCI:C123260 semapv:UnspecifiedMatching -DOID:0050699 Dent disease oboInOwl:hasDbXref OMIM:300009 semapv:UnspecifiedMatching -DOID:0050699 Dent disease oboInOwl:hasDbXref OMIM:300555 semapv:UnspecifiedMatching DOID:0050699 Dent disease oboInOwl:hasDbXref ORDO:1652 semapv:UnspecifiedMatching DOID:0050699 Dent disease oboInOwl:hasDbXref UMLS:C0878681 semapv:UnspecifiedMatching -DOID:0050699 Dent disease oboInOwl:hasDbXref UMLS:C1845167 semapv:UnspecifiedMatching -DOID:0050699 Dent disease oboInOwl:hasDbXref UMLS:C1848336 semapv:UnspecifiedMatching DOID:0050700 cardiomyopathy oboInOwl:hasDbXref ICD10CM:I42 semapv:UnspecifiedMatching DOID:0050700 cardiomyopathy oboInOwl:hasDbXref ICD9CM:425 semapv:UnspecifiedMatching DOID:0050700 cardiomyopathy oboInOwl:hasDbXref ICD9CM:425.9 semapv:UnspecifiedMatching @@ -1157,58 +790,20 @@ DOID:0050700 cardiomyopathy oboInOwl:hasDbXref UMLS:C0878544 semapv:UnspecifiedM DOID:0050709 early infantile epileptic encephalopathy oboInOwl:hasDbXref GARD:9255 semapv:UnspecifiedMatching DOID:0050709 early infantile epileptic encephalopathy oboInOwl:hasDbXref ORDO:1934 semapv:UnspecifiedMatching DOID:0050710 3-methylcrotonyl-CoA carboxylase deficiency oboInOwl:hasDbXref GARD:10954 semapv:UnspecifiedMatching -DOID:0050710 3-methylcrotonyl-CoA carboxylase deficiency oboInOwl:hasDbXref OMIMPS:210200 semapv:UnspecifiedMatching DOID:0050710 3-methylcrotonyl-CoA carboxylase deficiency oboInOwl:hasDbXref ORDO:6 semapv:UnspecifiedMatching -DOID:0050710 3-methylcrotonyl-CoA carboxylase deficiency skos:exactMatch OMIMPS:210200 semapv:UnspecifiedMatching DOID:0050711 aceruloplasminemia oboInOwl:hasDbXref GARD:9499 semapv:UnspecifiedMatching -DOID:0050711 aceruloplasminemia oboInOwl:hasDbXref OMIM:604290 semapv:UnspecifiedMatching -DOID:0050711 aceruloplasminemia skos:exactMatch OMIM:604290 semapv:UnspecifiedMatching -DOID:0050712 AGAT deficiency oboInOwl:hasDbXref OMIM:612718 semapv:UnspecifiedMatching -DOID:0050712 AGAT deficiency skos:exactMatch OMIM:612718 semapv:UnspecifiedMatching DOID:0050713 COX deficiency, infantile mitochondrial myopathy oboInOwl:hasDbXref ORDO:1561 semapv:UnspecifiedMatching DOID:0050713 COX deficiency, infantile mitochondrial myopathy oboInOwl:hasDbXref UMLS:C4273730 semapv:UnspecifiedMatching DOID:0050713 COX deficiency, infantile mitochondrial myopathy skos:exactMatch ORDO:1561 semapv:UnspecifiedMatching DOID:0050713 COX deficiency, infantile mitochondrial myopathy skos:exactMatch UMLS:C4273730 semapv:UnspecifiedMatching -DOID:0050715 methylmalonic aciduria and homocystinuria type cblC oboInOwl:hasDbXref OMIM:277400 semapv:UnspecifiedMatching -DOID:0050715 methylmalonic aciduria and homocystinuria type cblC skos:exactMatch OMIM:277400 semapv:UnspecifiedMatching -DOID:0050716 methylmalonic aciduria and homocystinuria type cblD oboInOwl:hasDbXref OMIM:277410 semapv:UnspecifiedMatching -DOID:0050716 methylmalonic aciduria and homocystinuria type cblD skos:exactMatch OMIM:277410 semapv:UnspecifiedMatching -DOID:0050717 methylmalonic aciduria and homocystinuria type cblF oboInOwl:hasDbXref OMIM:277380 semapv:UnspecifiedMatching -DOID:0050717 methylmalonic aciduria and homocystinuria type cblF skos:exactMatch OMIM:277380 semapv:UnspecifiedMatching -DOID:0050719 cerebral folate receptor alpha deficiency oboInOwl:hasDbXref OMIM:613068 semapv:UnspecifiedMatching -DOID:0050719 cerebral folate receptor alpha deficiency skos:exactMatch OMIM:613068 semapv:UnspecifiedMatching -DOID:0050720 ornithine translocase deficiency oboInOwl:hasDbXref OMIM:238970 semapv:UnspecifiedMatching -DOID:0050720 ornithine translocase deficiency skos:exactMatch OMIM:238970 semapv:UnspecifiedMatching DOID:0050722 PHGDH deficiency oboInOwl:hasDbXref MESH:C566618 semapv:UnspecifiedMatching -DOID:0050722 PHGDH deficiency oboInOwl:hasDbXref OMIM:601815 semapv:UnspecifiedMatching -DOID:0050722 PHGDH deficiency skos:exactMatch OMIM:601815 semapv:UnspecifiedMatching -DOID:0050723 PSAT deficiency oboInOwl:hasDbXref OMIM:610992 semapv:UnspecifiedMatching -DOID:0050723 PSAT deficiency skos:exactMatch OMIM:610992 semapv:UnspecifiedMatching -DOID:0050724 PSPH deficiency oboInOwl:hasDbXref OMIM:614023 semapv:UnspecifiedMatching -DOID:0050724 PSPH deficiency skos:exactMatch OMIM:614023 semapv:UnspecifiedMatching -DOID:0050725 tyrosinemia type II oboInOwl:hasDbXref OMIM:276600 semapv:UnspecifiedMatching -DOID:0050725 tyrosinemia type II skos:exactMatch OMIM:276600 semapv:UnspecifiedMatching -DOID:0050726 tyrosinemia type I oboInOwl:hasDbXref OMIM:276700 semapv:UnspecifiedMatching -DOID:0050726 tyrosinemia type I skos:exactMatch OMIM:276700 semapv:UnspecifiedMatching -DOID:0050727 tyrosinemia type III oboInOwl:hasDbXref OMIM:276710 semapv:UnspecifiedMatching -DOID:0050727 tyrosinemia type III skos:exactMatch OMIM:276710 semapv:UnspecifiedMatching DOID:0050729 Chanarin-Dorfman syndrome oboInOwl:hasDbXref GARD:3979 semapv:UnspecifiedMatching -DOID:0050729 Chanarin-Dorfman syndrome oboInOwl:hasDbXref OMIM:275630 semapv:UnspecifiedMatching DOID:0050729 Chanarin-Dorfman syndrome oboInOwl:hasDbXref ORDO:98907 semapv:UnspecifiedMatching -DOID:0050729 Chanarin-Dorfman syndrome skos:exactMatch OMIM:275630 semapv:UnspecifiedMatching DOID:0050730 coenzyme Q10 deficiency disease oboInOwl:hasDbXref GARD:10423 semapv:UnspecifiedMatching -DOID:0050730 coenzyme Q10 deficiency disease oboInOwl:hasDbXref OMIMPS:607426 semapv:UnspecifiedMatching -DOID:0050730 coenzyme Q10 deficiency disease skos:exactMatch OMIMPS:607426 semapv:UnspecifiedMatching DOID:0050731 vitamin B12 deficiency oboInOwl:hasDbXref MESH:D014806 semapv:UnspecifiedMatching -DOID:0050734 congenital intrinsic factor deficiency oboInOwl:hasDbXref OMIM:261000 semapv:UnspecifiedMatching -DOID:0050734 congenital intrinsic factor deficiency skos:exactMatch OMIM:261000 semapv:UnspecifiedMatching DOID:0050740 Qazi Markouizos syndrome oboInOwl:hasDbXref GARD:371 semapv:UnspecifiedMatching DOID:0050740 Qazi Markouizos syndrome oboInOwl:hasDbXref MESH:C536259 semapv:UnspecifiedMatching -DOID:0050740 Qazi Markouizos syndrome oboInOwl:hasDbXref OMIM:600096 semapv:UnspecifiedMatching -DOID:0050740 Qazi Markouizos syndrome skos:exactMatch OMIM:600096 semapv:UnspecifiedMatching DOID:0050741 alcohol dependence oboInOwl:hasDbXref KEGG:05034 semapv:UnspecifiedMatching -DOID:0050741 alcohol dependence oboInOwl:hasDbXref OMIM:103780 semapv:UnspecifiedMatching -DOID:0050741 alcohol dependence skos:exactMatch OMIM:103780 semapv:UnspecifiedMatching DOID:0050742 nicotine dependence oboInOwl:hasDbXref EFO:0003768 semapv:UnspecifiedMatching DOID:0050742 nicotine dependence oboInOwl:hasDbXref ICD10CM:F17 semapv:UnspecifiedMatching DOID:0050742 nicotine dependence oboInOwl:hasDbXref MESH:D014029 semapv:UnspecifiedMatching @@ -1230,113 +825,63 @@ DOID:0050750 splenic marginal zone lymphoma oboInOwl:hasDbXref NCI:C4663 semapv: DOID:0050751 T-cell large granular lymphocyte leukemia oboInOwl:hasDbXref ICDO:9831/3 semapv:UnspecifiedMatching DOID:0050751 T-cell large granular lymphocyte leukemia oboInOwl:hasDbXref NCI:C4664 semapv:UnspecifiedMatching DOID:0050752 amyotrophic lateral sclerosis type 8 oboInOwl:hasDbXref GARD:10499 semapv:UnspecifiedMatching -DOID:0050752 amyotrophic lateral sclerosis type 8 oboInOwl:hasDbXref OMIM:608627 semapv:UnspecifiedMatching -DOID:0050752 amyotrophic lateral sclerosis type 8 skos:exactMatch OMIM:608627 semapv:UnspecifiedMatching DOID:0050753 cerebellar ataxia oboInOwl:hasDbXref MESH:D002524 semapv:UnspecifiedMatching DOID:0050754 ataxia with oculomotor apraxia type 1 oboInOwl:hasDbXref GARD:9283 semapv:UnspecifiedMatching -DOID:0050754 ataxia with oculomotor apraxia type 1 oboInOwl:hasDbXref OMIM:208920 semapv:UnspecifiedMatching -DOID:0050754 ataxia with oculomotor apraxia type 1 skos:exactMatch OMIM:208920 semapv:UnspecifiedMatching DOID:0050755 spinocerebellar ataxia with axonal neuropathy 2 oboInOwl:hasDbXref GARD:12860 semapv:UnspecifiedMatching -DOID:0050755 spinocerebellar ataxia with axonal neuropathy 2 oboInOwl:hasDbXref OMIM:606002 semapv:UnspecifiedMatching DOID:0050755 spinocerebellar ataxia with axonal neuropathy 2 oboInOwl:hasDbXref ORDO:64753 semapv:UnspecifiedMatching -DOID:0050755 spinocerebellar ataxia with axonal neuropathy 2 skos:exactMatch OMIM:606002 semapv:UnspecifiedMatching DOID:0050757 deafness-dystonia-optic neuronopathy syndrome oboInOwl:hasDbXref MESH:C535808 semapv:UnspecifiedMatching -DOID:0050757 deafness-dystonia-optic neuronopathy syndrome oboInOwl:hasDbXref OMIM:304700 semapv:UnspecifiedMatching DOID:0050757 deafness-dystonia-optic neuronopathy syndrome oboInOwl:hasDbXref ORDO:3213 semapv:UnspecifiedMatching -DOID:0050757 deafness-dystonia-optic neuronopathy syndrome skos:exactMatch OMIM:304700 semapv:UnspecifiedMatching DOID:0050759 myotonic dystrophy type 2 oboInOwl:hasDbXref GARD:9728 semapv:UnspecifiedMatching DOID:0050759 myotonic dystrophy type 2 oboInOwl:hasDbXref ICD10CM:G71.1 semapv:UnspecifiedMatching DOID:0050759 myotonic dystrophy type 2 oboInOwl:hasDbXref ICD9CM:359.2 semapv:UnspecifiedMatching DOID:0050759 myotonic dystrophy type 2 oboInOwl:hasDbXref MESH:D020967 semapv:UnspecifiedMatching DOID:0050759 myotonic dystrophy type 2 oboInOwl:hasDbXref NCI:C84913 semapv:UnspecifiedMatching -DOID:0050759 myotonic dystrophy type 2 oboInOwl:hasDbXref OMIM:602668 semapv:UnspecifiedMatching DOID:0050759 myotonic dystrophy type 2 oboInOwl:hasDbXref ORDO:606 semapv:UnspecifiedMatching DOID:0050759 myotonic dystrophy type 2 oboInOwl:hasDbXref UMLS:C0553604 semapv:UnspecifiedMatching -DOID:0050759 myotonic dystrophy type 2 skos:exactMatch OMIM:602668 semapv:UnspecifiedMatching DOID:0050760 X-linked myopathy with excessive autophagy oboInOwl:hasDbXref GARD:3892 semapv:UnspecifiedMatching -DOID:0050760 X-linked myopathy with excessive autophagy oboInOwl:hasDbXref OMIM:310440 semapv:UnspecifiedMatching -DOID:0050760 X-linked myopathy with excessive autophagy skos:exactMatch OMIM:310440 semapv:UnspecifiedMatching DOID:0050762 adenylosuccinase lyase deficiency oboInOwl:hasDbXref GARD:550 semapv:UnspecifiedMatching -DOID:0050762 adenylosuccinase lyase deficiency oboInOwl:hasDbXref OMIM:103050 semapv:UnspecifiedMatching -DOID:0050762 adenylosuccinase lyase deficiency skos:exactMatch OMIM:103050 semapv:UnspecifiedMatching -DOID:0050763 ARC syndrome oboInOwl:hasDbXref OMIMPS:208085 semapv:UnspecifiedMatching DOID:0050763 ARC syndrome oboInOwl:hasDbXref ORDO:2697 semapv:UnspecifiedMatching -DOID:0050763 ARC syndrome skos:exactMatch OMIMPS:208085 semapv:UnspecifiedMatching DOID:0050764 Armfield syndrome oboInOwl:hasDbXref ICD10CM:Q87.8 semapv:UnspecifiedMatching -DOID:0050764 Armfield syndrome oboInOwl:hasDbXref OMIM:300261 semapv:UnspecifiedMatching DOID:0050764 Armfield syndrome oboInOwl:hasDbXref ORDO:85276 semapv:UnspecifiedMatching -DOID:0050764 Armfield syndrome skos:exactMatch OMIM:300261 semapv:UnspecifiedMatching DOID:0050765 neuroacanthocytosis oboInOwl:hasDbXref GARD:10902 semapv:UnspecifiedMatching DOID:0050765 neuroacanthocytosis oboInOwl:hasDbXref MESH:D054546 semapv:UnspecifiedMatching DOID:0050765 neuroacanthocytosis oboInOwl:hasDbXref ORDO:263440 semapv:UnspecifiedMatching DOID:0050766 choreaacanthocytosis oboInOwl:hasDbXref GARD:3956 semapv:UnspecifiedMatching DOID:0050766 choreaacanthocytosis oboInOwl:hasDbXref MESH:D054546 semapv:UnspecifiedMatching DOID:0050766 choreaacanthocytosis oboInOwl:hasDbXref NCI:C84926 semapv:UnspecifiedMatching -DOID:0050766 choreaacanthocytosis oboInOwl:hasDbXref OMIM:200150 semapv:UnspecifiedMatching DOID:0050766 choreaacanthocytosis oboInOwl:hasDbXref ORDO:2388 semapv:UnspecifiedMatching DOID:0050766 choreaacanthocytosis oboInOwl:hasDbXref UMLS:C0393576 semapv:UnspecifiedMatching -DOID:0050766 choreaacanthocytosis skos:exactMatch OMIM:200150 semapv:UnspecifiedMatching -DOID:0050768 mitochondrial complex V (ATP synthase) deficiency nuclear type 1 oboInOwl:hasDbXref OMIM:604273 semapv:UnspecifiedMatching -DOID:0050768 mitochondrial complex V (ATP synthase) deficiency nuclear type 1 skos:exactMatch OMIM:604273 semapv:UnspecifiedMatching DOID:0050769 N syndrome oboInOwl:hasDbXref GARD:3902 semapv:UnspecifiedMatching DOID:0050769 N syndrome oboInOwl:hasDbXref MESH:C536108 semapv:UnspecifiedMatching -DOID:0050769 N syndrome oboInOwl:hasDbXref OMIM:310465 semapv:UnspecifiedMatching DOID:0050769 N syndrome oboInOwl:hasDbXref ORDO:2608 semapv:UnspecifiedMatching -DOID:0050769 N syndrome skos:exactMatch OMIM:310465 semapv:UnspecifiedMatching DOID:0050770 polycystic liver disease oboInOwl:hasDbXref GARD:9457 semapv:UnspecifiedMatching DOID:0050770 polycystic liver disease oboInOwl:hasDbXref MESH:C536330 semapv:UnspecifiedMatching -DOID:0050770 polycystic liver disease oboInOwl:hasDbXref OMIM:174050 semapv:UnspecifiedMatching -DOID:0050770 polycystic liver disease skos:exactMatch OMIM:174050 semapv:UnspecifiedMatching DOID:0050771 pheochromocytoma oboInOwl:hasDbXref GARD:7385 semapv:UnspecifiedMatching DOID:0050771 pheochromocytoma oboInOwl:hasDbXref ICDO:8700/3 semapv:UnspecifiedMatching DOID:0050771 pheochromocytoma oboInOwl:hasDbXref MESH:D010673 semapv:UnspecifiedMatching -DOID:0050771 pheochromocytoma oboInOwl:hasDbXref OMIM:171300 semapv:UnspecifiedMatching -DOID:0050771 pheochromocytoma skos:exactMatch OMIM:171300 semapv:UnspecifiedMatching -DOID:0050772 spastic ataxia 1 oboInOwl:hasDbXref OMIM:108600 semapv:UnspecifiedMatching -DOID:0050772 spastic ataxia 1 skos:exactMatch OMIM:108600 semapv:UnspecifiedMatching DOID:0050773 paraganglioma oboInOwl:hasDbXref ICDO:8680/3 semapv:UnspecifiedMatching DOID:0050773 paraganglioma oboInOwl:hasDbXref MESH:D010235 semapv:UnspecifiedMatching DOID:0050773 paraganglioma oboInOwl:hasDbXref NCI:C3308 semapv:UnspecifiedMatching -DOID:0050773 paraganglioma oboInOwl:hasDbXref OMIM:115310 semapv:UnspecifiedMatching -DOID:0050773 paraganglioma oboInOwl:hasDbXref OMIM:168000 semapv:UnspecifiedMatching -DOID:0050773 paraganglioma oboInOwl:hasDbXref OMIM:601650 semapv:UnspecifiedMatching -DOID:0050773 paraganglioma oboInOwl:hasDbXref OMIM:605373 semapv:UnspecifiedMatching -DOID:0050773 paraganglioma oboInOwl:hasDbXref OMIM:614165 semapv:UnspecifiedMatching -DOID:0050773 paraganglioma oboInOwl:hasDbXref OMIMPS:168000 semapv:UnspecifiedMatching DOID:0050773 paraganglioma oboInOwl:hasDbXref UMLS:C0030421 semapv:UnspecifiedMatching DOID:0050774 rapadilino syndrome oboInOwl:hasDbXref GARD:4637 semapv:UnspecifiedMatching DOID:0050774 rapadilino syndrome oboInOwl:hasDbXref MESH:C535288 semapv:UnspecifiedMatching -DOID:0050774 rapadilino syndrome oboInOwl:hasDbXref OMIM:266280 semapv:UnspecifiedMatching DOID:0050774 rapadilino syndrome oboInOwl:hasDbXref ORDO:3021 semapv:UnspecifiedMatching DOID:0050774 rapadilino syndrome oboInOwl:hasDbXref UMLS:C1849453 semapv:UnspecifiedMatching -DOID:0050774 rapadilino syndrome skos:exactMatch OMIM:266280 semapv:UnspecifiedMatching DOID:0050775 schneckenbecken dysplasia oboInOwl:hasDbXref GARD:169 semapv:UnspecifiedMatching DOID:0050775 schneckenbecken dysplasia oboInOwl:hasDbXref MESH:C536637 semapv:UnspecifiedMatching -DOID:0050775 schneckenbecken dysplasia oboInOwl:hasDbXref OMIM:269250 semapv:UnspecifiedMatching -DOID:0050775 schneckenbecken dysplasia skos:exactMatch OMIM:269250 semapv:UnspecifiedMatching -DOID:0050776 non-syndromic X-linked intellectual disability oboInOwl:hasDbXref OMIM:300716 semapv:UnspecifiedMatching -DOID:0050776 non-syndromic X-linked intellectual disability oboInOwl:hasDbXref OMIMPS:309530 semapv:UnspecifiedMatching DOID:0050776 non-syndromic X-linked intellectual disability oboInOwl:hasDbXref ORDO:777 semapv:UnspecifiedMatching DOID:0050777 Joubert syndrome oboInOwl:hasDbXref GARD:6802 semapv:UnspecifiedMatching DOID:0050777 Joubert syndrome oboInOwl:hasDbXref ICD10CM:Q04.3 semapv:UnspecifiedMatching -DOID:0050777 Joubert syndrome oboInOwl:hasDbXref OMIMPS:213300 semapv:UnspecifiedMatching DOID:0050777 Joubert syndrome oboInOwl:hasDbXref ORDO:475 semapv:UnspecifiedMatching -DOID:0050777 Joubert syndrome skos:exactMatch OMIMPS:213300 semapv:UnspecifiedMatching DOID:0050778 Meckel syndrome oboInOwl:hasDbXref GARD:3436 semapv:UnspecifiedMatching DOID:0050778 Meckel syndrome oboInOwl:hasDbXref ICD9CM:753.1 semapv:UnspecifiedMatching -DOID:0050778 Meckel syndrome oboInOwl:hasDbXref OMIMPS:249000 semapv:UnspecifiedMatching DOID:0050778 Meckel syndrome oboInOwl:hasDbXref ORDO:564 semapv:UnspecifiedMatching DOID:0050778 Meckel syndrome oboInOwl:hasDbXref UMLS:C0311245 semapv:UnspecifiedMatching -DOID:0050778 Meckel syndrome skos:exactMatch OMIMPS:249000 semapv:UnspecifiedMatching DOID:0050779 hydrolethalus syndrome oboInOwl:hasDbXref GARD:6683 semapv:UnspecifiedMatching DOID:0050779 hydrolethalus syndrome oboInOwl:hasDbXref ICD10CM:Q87.8 semapv:UnspecifiedMatching DOID:0050779 hydrolethalus syndrome oboInOwl:hasDbXref MESH:C536079 semapv:UnspecifiedMatching -DOID:0050779 hydrolethalus syndrome oboInOwl:hasDbXref OMIMPS:236680 semapv:UnspecifiedMatching DOID:0050779 hydrolethalus syndrome oboInOwl:hasDbXref ORDO:2189 semapv:UnspecifiedMatching -DOID:0050779 hydrolethalus syndrome skos:exactMatch OMIMPS:236680 semapv:UnspecifiedMatching -DOID:0050781 Ogden syndrome oboInOwl:hasDbXref OMIM:300855 semapv:UnspecifiedMatching DOID:0050781 Ogden syndrome oboInOwl:hasDbXref ORDO:276432 semapv:UnspecifiedMatching -DOID:0050781 Ogden syndrome skos:exactMatch OMIM:300855 semapv:UnspecifiedMatching DOID:0050782 Zollinger-Ellison syndrome oboInOwl:hasDbXref GARD:7918 semapv:UnspecifiedMatching DOID:0050782 Zollinger-Ellison syndrome oboInOwl:hasDbXref ICD10CM:E16.4 semapv:UnspecifiedMatching DOID:0050782 Zollinger-Ellison syndrome oboInOwl:hasDbXref MESH:D015043 semapv:UnspecifiedMatching @@ -1351,122 +896,65 @@ DOID:0050784 primary progressive multiple sclerosis skos:narrowMatch MESH:D02052 DOID:0050785 progressive relapsing multiple sclerosis oboInOwl:hasDbXref MESH:D020528 semapv:UnspecifiedMatching DOID:0050785 progressive relapsing multiple sclerosis oboInOwl:hasDbXref UMLS:C0393666 semapv:UnspecifiedMatching DOID:0050785 progressive relapsing multiple sclerosis skos:narrowMatch MESH:D020528 semapv:UnspecifiedMatching -DOID:0050786 iridogoniodysgenesis syndrome oboInOwl:hasDbXref OMIM:137600 semapv:UnspecifiedMatching -DOID:0050786 iridogoniodysgenesis syndrome oboInOwl:hasDbXref OMIM:601631 semapv:UnspecifiedMatching DOID:0050786 iridogoniodysgenesis syndrome oboInOwl:hasDbXref ORDO:98634 semapv:UnspecifiedMatching DOID:0050787 juvenile polyposis syndrome oboInOwl:hasDbXref GARD:3065 semapv:UnspecifiedMatching DOID:0050787 juvenile polyposis syndrome oboInOwl:hasDbXref MESH:C537702 semapv:UnspecifiedMatching -DOID:0050787 juvenile polyposis syndrome oboInOwl:hasDbXref OMIM:174900 semapv:UnspecifiedMatching -DOID:0050787 juvenile polyposis syndrome skos:exactMatch OMIM:174900 semapv:UnspecifiedMatching DOID:0050788 proximal symphalangism oboInOwl:hasDbXref GARD:8182 semapv:UnspecifiedMatching DOID:0050788 proximal symphalangism oboInOwl:hasDbXref KEGG:H00484 semapv:UnspecifiedMatching -DOID:0050788 proximal symphalangism oboInOwl:hasDbXref OMIMPS:185800 semapv:UnspecifiedMatching DOID:0050788 proximal symphalangism oboInOwl:hasDbXref ORDO:3250 semapv:UnspecifiedMatching -DOID:0050788 proximal symphalangism skos:exactMatch OMIMPS:185800 semapv:UnspecifiedMatching DOID:0050789 tarsal-carpal coalition syndrome oboInOwl:hasDbXref GARD:9225 semapv:UnspecifiedMatching -DOID:0050789 tarsal-carpal coalition syndrome oboInOwl:hasDbXref OMIM:186570 semapv:UnspecifiedMatching DOID:0050789 tarsal-carpal coalition syndrome oboInOwl:hasDbXref ORDO:1412 semapv:UnspecifiedMatching -DOID:0050789 tarsal-carpal coalition syndrome skos:exactMatch OMIM:186570 semapv:UnspecifiedMatching DOID:0050790 fibular hypoplasia and complex brachydactyly oboInOwl:hasDbXref KEGG:H00467 semapv:UnspecifiedMatching DOID:0050790 fibular hypoplasia and complex brachydactyly oboInOwl:hasDbXref MESH:C537931 semapv:UnspecifiedMatching -DOID:0050790 fibular hypoplasia and complex brachydactyly oboInOwl:hasDbXref OMIM:228900 semapv:UnspecifiedMatching DOID:0050790 fibular hypoplasia and complex brachydactyly oboInOwl:hasDbXref ORDO:2639 semapv:UnspecifiedMatching -DOID:0050790 fibular hypoplasia and complex brachydactyly skos:exactMatch OMIM:228900 semapv:UnspecifiedMatching DOID:0050791 persistent Mullerian duct syndrome oboInOwl:hasDbXref GARD:8435 semapv:UnspecifiedMatching DOID:0050791 persistent Mullerian duct syndrome oboInOwl:hasDbXref MESH:C536665 semapv:UnspecifiedMatching DOID:0050791 persistent Mullerian duct syndrome oboInOwl:hasDbXref NCI:C120188 semapv:UnspecifiedMatching -DOID:0050791 persistent Mullerian duct syndrome oboInOwl:hasDbXref OMIM:261550 semapv:UnspecifiedMatching DOID:0050791 persistent Mullerian duct syndrome oboInOwl:hasDbXref UMLS:C1849930 semapv:UnspecifiedMatching -DOID:0050791 persistent Mullerian duct syndrome skos:exactMatch OMIM:261550 semapv:UnspecifiedMatching DOID:0050792 multiple cutaneous and mucosal venous malformations oboInOwl:hasDbXref MESH:C563977 semapv:UnspecifiedMatching -DOID:0050792 multiple cutaneous and mucosal venous malformations oboInOwl:hasDbXref OMIM:600195 semapv:UnspecifiedMatching DOID:0050792 multiple cutaneous and mucosal venous malformations oboInOwl:hasDbXref ORDO:2451 semapv:UnspecifiedMatching DOID:0050792 multiple cutaneous and mucosal venous malformations oboInOwl:hasDbXref UMLS:C1838437 semapv:UnspecifiedMatching -DOID:0050792 multiple cutaneous and mucosal venous malformations skos:exactMatch OMIM:600195 semapv:UnspecifiedMatching -DOID:0050793 short QT syndrome oboInOwl:hasDbXref OMIM:609620 semapv:UnspecifiedMatching -DOID:0050793 short QT syndrome oboInOwl:hasDbXref OMIM:609621 semapv:UnspecifiedMatching -DOID:0050793 short QT syndrome oboInOwl:hasDbXref OMIM:609622 semapv:UnspecifiedMatching -DOID:0050794 multiple synostoses syndrome oboInOwl:hasDbXref OMIMPS:186500 semapv:UnspecifiedMatching DOID:0050794 multiple synostoses syndrome oboInOwl:hasDbXref ORDO:3237 semapv:UnspecifiedMatching -DOID:0050794 multiple synostoses syndrome skos:exactMatch OMIMPS:186500 semapv:UnspecifiedMatching DOID:0050795 cone dystrophy oboInOwl:hasDbXref GARD:11897 semapv:UnspecifiedMatching DOID:0050795 cone dystrophy oboInOwl:hasDbXref MESH:D000077765 semapv:UnspecifiedMatching DOID:0050795 cone dystrophy skos:exactMatch MESH:D000077765 semapv:UnspecifiedMatching DOID:0050796 achalasia microcephaly syndrome oboInOwl:hasDbXref GARD:456 semapv:UnspecifiedMatching DOID:0050796 achalasia microcephaly syndrome oboInOwl:hasDbXref MESH:C536010 semapv:UnspecifiedMatching -DOID:0050796 achalasia microcephaly syndrome oboInOwl:hasDbXref OMIM:200450 semapv:UnspecifiedMatching DOID:0050796 achalasia microcephaly syndrome oboInOwl:hasDbXref UMLS:C1860212 semapv:UnspecifiedMatching -DOID:0050796 achalasia microcephaly syndrome skos:exactMatch OMIM:200450 semapv:UnspecifiedMatching DOID:0050797 peroxisomal acyl-CoA oxidase deficiency oboInOwl:hasDbXref GARD:4543 semapv:UnspecifiedMatching DOID:0050797 peroxisomal acyl-CoA oxidase deficiency oboInOwl:hasDbXref MESH:C536662 semapv:UnspecifiedMatching DOID:0050797 peroxisomal acyl-CoA oxidase deficiency oboInOwl:hasDbXref NCI:C170437 semapv:UnspecifiedMatching -DOID:0050797 peroxisomal acyl-CoA oxidase deficiency oboInOwl:hasDbXref OMIM:264470 semapv:UnspecifiedMatching DOID:0050797 peroxisomal acyl-CoA oxidase deficiency oboInOwl:hasDbXref ORDO:2971 semapv:UnspecifiedMatching DOID:0050797 peroxisomal acyl-CoA oxidase deficiency oboInOwl:hasDbXref UMLS:C1849678 semapv:UnspecifiedMatching DOID:0050797 peroxisomal acyl-CoA oxidase deficiency skos:exactMatch GARD:4543 semapv:UnspecifiedMatching DOID:0050797 peroxisomal acyl-CoA oxidase deficiency skos:exactMatch NCI:C170437 semapv:UnspecifiedMatching -DOID:0050797 peroxisomal acyl-CoA oxidase deficiency skos:exactMatch OMIM:264470 semapv:UnspecifiedMatching DOID:0050797 peroxisomal acyl-CoA oxidase deficiency skos:exactMatch ORDO:2971 semapv:UnspecifiedMatching DOID:0050797 peroxisomal acyl-CoA oxidase deficiency skos:exactMatch SNOMEDCT_US_2020_03_01:238069004 semapv:UnspecifiedMatching DOID:0050797 peroxisomal acyl-CoA oxidase deficiency skos:exactMatch UMLS:C1849678 semapv:UnspecifiedMatching -DOID:0050798 cerebral creatine deficiency syndrome oboInOwl:hasDbXref OMIMPS:300352 semapv:UnspecifiedMatching -DOID:0050798 cerebral creatine deficiency syndrome skos:exactMatch OMIMPS:300352 semapv:UnspecifiedMatching DOID:0050799 guanidinoacetate methyltransferase deficiency oboInOwl:hasDbXref GARD:2578 semapv:UnspecifiedMatching DOID:0050799 guanidinoacetate methyltransferase deficiency oboInOwl:hasDbXref MESH:C537622 semapv:UnspecifiedMatching -DOID:0050799 guanidinoacetate methyltransferase deficiency oboInOwl:hasDbXref OMIM:612736 semapv:UnspecifiedMatching -DOID:0050799 guanidinoacetate methyltransferase deficiency skos:exactMatch OMIM:612736 semapv:UnspecifiedMatching -DOID:0050800 cerebral creatine deficiency syndrome 1 oboInOwl:hasDbXref OMIM:300352 semapv:UnspecifiedMatching -DOID:0050800 cerebral creatine deficiency syndrome 1 skos:exactMatch OMIM:300352 semapv:UnspecifiedMatching DOID:0050801 androgenic alopecia oboInOwl:hasDbXref GARD:9269 semapv:UnspecifiedMatching -DOID:0050801 androgenic alopecia oboInOwl:hasDbXref OMIM:109200 semapv:UnspecifiedMatching -DOID:0050801 androgenic alopecia oboInOwl:hasDbXref OMIM:300710 semapv:UnspecifiedMatching -DOID:0050801 androgenic alopecia oboInOwl:hasDbXref OMIM:612421 semapv:UnspecifiedMatching -DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 oboInOwl:hasDbXref OMIM:615349 semapv:UnspecifiedMatching DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 oboInOwl:hasDbXref ORDO:75496 semapv:UnspecifiedMatching DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 oboInOwl:hasDbXref UMLS:C1869122 semapv:UnspecifiedMatching -DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 skos:exactMatch OMIM:615349 semapv:UnspecifiedMatching DOID:0050807 Kahrizi syndrome oboInOwl:hasDbXref MESH:C567196 semapv:UnspecifiedMatching -DOID:0050807 Kahrizi syndrome oboInOwl:hasDbXref OMIM:612713 semapv:UnspecifiedMatching DOID:0050807 Kahrizi syndrome oboInOwl:hasDbXref ORDO:168972 semapv:UnspecifiedMatching -DOID:0050807 Kahrizi syndrome skos:exactMatch OMIM:612713 semapv:UnspecifiedMatching -DOID:0050809 mucopolysaccharidosis IX oboInOwl:hasDbXref OMIM:601492 semapv:UnspecifiedMatching -DOID:0050809 mucopolysaccharidosis IX skos:exactMatch OMIM:601492 semapv:UnspecifiedMatching DOID:0050810 biotin deficiency oboInOwl:hasDbXref MESH:C531633 semapv:UnspecifiedMatching DOID:0050811 congenital adrenal hyperplasia oboInOwl:hasDbXref GARD:1465 semapv:UnspecifiedMatching DOID:0050811 congenital adrenal hyperplasia oboInOwl:hasDbXref GARD:1467 semapv:UnspecifiedMatching DOID:0050811 congenital adrenal hyperplasia oboInOwl:hasDbXref ICD10CM:E25 semapv:UnspecifiedMatching DOID:0050811 congenital adrenal hyperplasia oboInOwl:hasDbXref ICD9CM:255.2 semapv:UnspecifiedMatching -DOID:0050811 congenital adrenal hyperplasia oboInOwl:hasDbXref OMIM:201710 semapv:UnspecifiedMatching -DOID:0050811 congenital adrenal hyperplasia oboInOwl:hasDbXref OMIM:201810 semapv:UnspecifiedMatching -DOID:0050811 congenital adrenal hyperplasia oboInOwl:hasDbXref OMIM:201910 semapv:UnspecifiedMatching -DOID:0050811 congenital adrenal hyperplasia oboInOwl:hasDbXref OMIM:202010 semapv:UnspecifiedMatching -DOID:0050811 congenital adrenal hyperplasia oboInOwl:hasDbXref OMIM:202110 semapv:UnspecifiedMatching DOID:0050811 congenital adrenal hyperplasia oboInOwl:hasDbXref ORDO:418 semapv:UnspecifiedMatching DOID:0050811 congenital adrenal hyperplasia oboInOwl:hasDbXref UMLS:C0701163 semapv:UnspecifiedMatching DOID:0050812 spondyloepimetaphyseal dysplasia, Pakistani type oboInOwl:hasDbXref MESH:C567551 semapv:UnspecifiedMatching -DOID:0050812 spondyloepimetaphyseal dysplasia, Pakistani type oboInOwl:hasDbXref OMIM:612847 semapv:UnspecifiedMatching -DOID:0050812 spondyloepimetaphyseal dysplasia, Pakistani type skos:exactMatch OMIM:612847 semapv:UnspecifiedMatching -DOID:0050813 spondyloepiphyseal dysplasia with congenital joint dislocations oboInOwl:hasDbXref OMIM:143095 semapv:UnspecifiedMatching -DOID:0050813 spondyloepiphyseal dysplasia with congenital joint dislocations skos:exactMatch OMIM:143095 semapv:UnspecifiedMatching DOID:0050814 temtamy preaxial brachydactyly syndrome oboInOwl:hasDbXref GARD:9679 semapv:UnspecifiedMatching DOID:0050814 temtamy preaxial brachydactyly syndrome oboInOwl:hasDbXref MESH:C536958 semapv:UnspecifiedMatching -DOID:0050814 temtamy preaxial brachydactyly syndrome oboInOwl:hasDbXref OMIM:605282 semapv:UnspecifiedMatching DOID:0050814 temtamy preaxial brachydactyly syndrome oboInOwl:hasDbXref ORDO:363417 semapv:UnspecifiedMatching DOID:0050814 temtamy preaxial brachydactyly syndrome oboInOwl:hasDbXref UMLS:C1854466 semapv:UnspecifiedMatching -DOID:0050814 temtamy preaxial brachydactyly syndrome skos:exactMatch OMIM:605282 semapv:UnspecifiedMatching DOID:0050816 urofacial syndrome oboInOwl:hasDbXref GARD:2781 semapv:UnspecifiedMatching DOID:0050816 urofacial syndrome oboInOwl:hasDbXref MESH:C536480 semapv:UnspecifiedMatching -DOID:0050816 urofacial syndrome oboInOwl:hasDbXref OMIM:236730 semapv:UnspecifiedMatching -DOID:0050816 urofacial syndrome oboInOwl:hasDbXref OMIM:615112 semapv:UnspecifiedMatching -DOID:0050816 urofacial syndrome oboInOwl:hasDbXref OMIMPS:236730 semapv:UnspecifiedMatching DOID:0050816 urofacial syndrome oboInOwl:hasDbXref ORDO:2704 semapv:UnspecifiedMatching DOID:0050817 Stargardt disease oboInOwl:hasDbXref GARD:181 semapv:UnspecifiedMatching DOID:0050817 Stargardt disease oboInOwl:hasDbXref MESH:D000080362 semapv:UnspecifiedMatching -DOID:0050817 Stargardt disease oboInOwl:hasDbXref OMIM:248200 semapv:UnspecifiedMatching -DOID:0050817 Stargardt disease oboInOwl:hasDbXref OMIM:600110 semapv:UnspecifiedMatching -DOID:0050817 Stargardt disease oboInOwl:hasDbXref OMIM:603786 semapv:UnspecifiedMatching -DOID:0050818 transcobalamin II deficiency oboInOwl:hasDbXref OMIM:275350 semapv:UnspecifiedMatching -DOID:0050818 transcobalamin II deficiency skos:exactMatch OMIM:275350 semapv:UnspecifiedMatching DOID:0050820 atrioventricular block oboInOwl:hasDbXref ICD10CM:I44.3 semapv:UnspecifiedMatching DOID:0050820 atrioventricular block oboInOwl:hasDbXref ICD9CM:426.10 semapv:UnspecifiedMatching DOID:0050820 atrioventricular block oboInOwl:hasDbXref MESH:D054537 semapv:UnspecifiedMatching @@ -1480,19 +968,13 @@ DOID:0050827 rheumatic heart disease oboInOwl:hasDbXref MESH:D012214 semapv:Unsp DOID:0050830 peripheral artery disease oboInOwl:hasDbXref MESH:D058729 semapv:UnspecifiedMatching DOID:0050831 familial encephalopathy with neuroserpin inclusion bodies oboInOwl:hasDbXref GARD:10037 semapv:UnspecifiedMatching DOID:0050831 familial encephalopathy with neuroserpin inclusion bodies oboInOwl:hasDbXref MESH:C536841 semapv:UnspecifiedMatching -DOID:0050831 familial encephalopathy with neuroserpin inclusion bodies oboInOwl:hasDbXref OMIM:604218 semapv:UnspecifiedMatching -DOID:0050831 familial encephalopathy with neuroserpin inclusion bodies skos:exactMatch OMIM:604218 semapv:UnspecifiedMatching -DOID:0050833 orotic aciduria oboInOwl:hasDbXref OMIM:258900 semapv:UnspecifiedMatching -DOID:0050833 orotic aciduria skos:exactMatch OMIM:258900 semapv:UnspecifiedMatching DOID:0050834 CHARGE syndrome oboInOwl:hasDbXref GARD:29 semapv:UnspecifiedMatching DOID:0050834 CHARGE syndrome oboInOwl:hasDbXref MESH:D058747 semapv:UnspecifiedMatching DOID:0050834 CHARGE syndrome oboInOwl:hasDbXref NCI:C75100 semapv:UnspecifiedMatching -DOID:0050834 CHARGE syndrome oboInOwl:hasDbXref OMIM:214800 semapv:UnspecifiedMatching DOID:0050834 CHARGE syndrome oboInOwl:hasDbXref ORDO:138 semapv:UnspecifiedMatching DOID:0050834 CHARGE syndrome oboInOwl:hasDbXref UMLS:C0265354 semapv:UnspecifiedMatching DOID:0050834 CHARGE syndrome oboInOwl:hasDbXref UMLS:C2936502 semapv:UnspecifiedMatching DOID:0050834 CHARGE syndrome skos:exactMatch MESH:D058747 semapv:UnspecifiedMatching -DOID:0050834 CHARGE syndrome skos:exactMatch OMIM:214800 semapv:UnspecifiedMatching DOID:0050835 generalized dystonia oboInOwl:hasDbXref ICD10CM:G24.1 semapv:UnspecifiedMatching DOID:0050835 generalized dystonia oboInOwl:hasDbXref ICD10CM:G24.2 semapv:UnspecifiedMatching DOID:0050835 generalized dystonia oboInOwl:hasDbXref ICD9CM:333.6 semapv:UnspecifiedMatching @@ -1522,30 +1004,19 @@ DOID:0050848 obstructive sleep apnea oboInOwl:hasDbXref ICD10CM:G47.33 semapv:Un DOID:0050848 obstructive sleep apnea oboInOwl:hasDbXref ICD9CM:327.23 semapv:UnspecifiedMatching DOID:0050848 obstructive sleep apnea oboInOwl:hasDbXref MESH:D020181 semapv:UnspecifiedMatching DOID:0050848 obstructive sleep apnea oboInOwl:hasDbXref NCI:C116337 semapv:UnspecifiedMatching -DOID:0050848 obstructive sleep apnea oboInOwl:hasDbXref OMIM:107650 semapv:UnspecifiedMatching DOID:0050848 obstructive sleep apnea oboInOwl:hasDbXref UMLS:C0520679 semapv:UnspecifiedMatching -DOID:0050848 obstructive sleep apnea skos:exactMatch OMIM:107650 semapv:UnspecifiedMatching DOID:0050854 Muckle-Wells syndrome oboInOwl:hasDbXref GARD:8472 semapv:UnspecifiedMatching DOID:0050854 Muckle-Wells syndrome oboInOwl:hasDbXref ICD10CM:M04.2 semapv:UnspecifiedMatching DOID:0050854 Muckle-Wells syndrome oboInOwl:hasDbXref MEDDRA:10064569 semapv:UnspecifiedMatching DOID:0050854 Muckle-Wells syndrome oboInOwl:hasDbXref MESH:D056587 semapv:UnspecifiedMatching DOID:0050854 Muckle-Wells syndrome oboInOwl:hasDbXref NCI:C119054 semapv:UnspecifiedMatching -DOID:0050854 Muckle-Wells syndrome oboInOwl:hasDbXref OMIM:191900 semapv:UnspecifiedMatching DOID:0050854 Muckle-Wells syndrome oboInOwl:hasDbXref ORDO:575 semapv:UnspecifiedMatching DOID:0050854 Muckle-Wells syndrome oboInOwl:hasDbXref UMLS:C0268390 semapv:UnspecifiedMatching -DOID:0050854 Muckle-Wells syndrome skos:exactMatch OMIM:191900 semapv:UnspecifiedMatching DOID:0050857 Perrault syndrome oboInOwl:hasDbXref GARD:2542 semapv:UnspecifiedMatching -DOID:0050857 Perrault syndrome oboInOwl:hasDbXref OMIM:233400 semapv:UnspecifiedMatching -DOID:0050857 Perrault syndrome oboInOwl:hasDbXref OMIM:614129 semapv:UnspecifiedMatching -DOID:0050857 Perrault syndrome oboInOwl:hasDbXref OMIM:614926 semapv:UnspecifiedMatching -DOID:0050857 Perrault syndrome oboInOwl:hasDbXref OMIM:615300 semapv:UnspecifiedMatching -DOID:0050857 Perrault syndrome oboInOwl:hasDbXref OMIMPS:233400 semapv:UnspecifiedMatching DOID:0050857 Perrault syndrome oboInOwl:hasDbXref ORDO:2855 semapv:UnspecifiedMatching DOID:0050858 Marshall-Smith syndrome oboInOwl:hasDbXref GARD:6985 semapv:UnspecifiedMatching DOID:0050858 Marshall-Smith syndrome oboInOwl:hasDbXref MESH:C536026 semapv:UnspecifiedMatching -DOID:0050858 Marshall-Smith syndrome oboInOwl:hasDbXref OMIM:602535 semapv:UnspecifiedMatching DOID:0050858 Marshall-Smith syndrome oboInOwl:hasDbXref ORDO:561 semapv:UnspecifiedMatching -DOID:0050858 Marshall-Smith syndrome skos:exactMatch OMIM:602535 semapv:UnspecifiedMatching DOID:0050861 colorectal adenocarcinoma oboInOwl:hasDbXref NCI:C5105 semapv:UnspecifiedMatching DOID:0050861 colorectal adenocarcinoma oboInOwl:hasDbXref UMLS:C1319315 semapv:UnspecifiedMatching DOID:0050865 tongue squamous cell carcinoma oboInOwl:hasDbXref NCI:C4648 semapv:UnspecifiedMatching @@ -1559,48 +1030,26 @@ DOID:0050872 large cell neuroendocrine carcinoma oboInOwl:hasDbXref ICDO:8013/3 DOID:0050873 follicular lymphoma oboInOwl:hasDbXref GARD:2356 semapv:UnspecifiedMatching DOID:0050873 follicular lymphoma oboInOwl:hasDbXref ICDO:9690/3 semapv:UnspecifiedMatching DOID:0050873 follicular lymphoma oboInOwl:hasDbXref MESH:D008224 semapv:UnspecifiedMatching -DOID:0050873 follicular lymphoma oboInOwl:hasDbXref OMIM:151430 semapv:UnspecifiedMatching -DOID:0050873 follicular lymphoma skos:exactMatch OMIM:151430 semapv:UnspecifiedMatching DOID:0050876 Caroli disease oboInOwl:hasDbXref GARD:6002 semapv:UnspecifiedMatching DOID:0050876 Caroli disease oboInOwl:hasDbXref MESH:D016767 semapv:UnspecifiedMatching DOID:0050876 Caroli disease oboInOwl:hasDbXref NCI:C84619 semapv:UnspecifiedMatching DOID:0050876 Caroli disease oboInOwl:hasDbXref UMLS:C0162510 semapv:UnspecifiedMatching DOID:0050877 pancreatic agenesis oboInOwl:hasDbXref GARD:4203 semapv:UnspecifiedMatching -DOID:0050877 pancreatic agenesis oboInOwl:hasDbXref OMIM:260370 semapv:UnspecifiedMatching DOID:0050877 pancreatic agenesis oboInOwl:hasDbXref ORDO:2805 semapv:UnspecifiedMatching -DOID:0050877 pancreatic agenesis skos:exactMatch OMIM:260370 semapv:UnspecifiedMatching -DOID:0050879 fragile X-associated tremor/ataxia syndrome oboInOwl:hasDbXref OMIM:300623 semapv:UnspecifiedMatching -DOID:0050879 fragile X-associated tremor/ataxia syndrome skos:exactMatch OMIM:300623 semapv:UnspecifiedMatching DOID:0050880 Koolen de Vries syndrome oboInOwl:hasDbXref GARD:10727 semapv:UnspecifiedMatching -DOID:0050880 Koolen de Vries syndrome oboInOwl:hasDbXref OMIM:610443 semapv:UnspecifiedMatching DOID:0050880 Koolen de Vries syndrome oboInOwl:hasDbXref ORDO:96169 semapv:UnspecifiedMatching -DOID:0050880 Koolen de Vries syndrome skos:exactMatch OMIM:610443 semapv:UnspecifiedMatching DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia oboInOwl:hasDbXref MESH:C563476 semapv:UnspecifiedMatching -DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia oboInOwl:hasDbXref OMIMPS:167320 semapv:UnspecifiedMatching DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia oboInOwl:hasDbXref ORDO:52430 semapv:UnspecifiedMatching -DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia skos:exactMatch OMIMPS:167320 semapv:UnspecifiedMatching DOID:0050882 spinocerebellar ataxia type 5 oboInOwl:hasDbXref GARD:4953 semapv:UnspecifiedMatching -DOID:0050882 spinocerebellar ataxia type 5 oboInOwl:hasDbXref OMIM:600224 semapv:UnspecifiedMatching -DOID:0050882 spinocerebellar ataxia type 5 skos:exactMatch OMIM:600224 semapv:UnspecifiedMatching DOID:0050883 infantile cerebellar-retinal degeneration oboInOwl:hasDbXref GARD:13264 semapv:UnspecifiedMatching -DOID:0050883 infantile cerebellar-retinal degeneration oboInOwl:hasDbXref OMIM:614559 semapv:UnspecifiedMatching -DOID:0050883 infantile cerebellar-retinal degeneration skos:exactMatch OMIM:614559 semapv:UnspecifiedMatching DOID:0050884 triosephosphate isomerase deficiency oboInOwl:hasDbXref GARD:5287 semapv:UnspecifiedMatching DOID:0050884 triosephosphate isomerase deficiency oboInOwl:hasDbXref MESH:C566029 semapv:UnspecifiedMatching -DOID:0050884 triosephosphate isomerase deficiency oboInOwl:hasDbXref OMIM:615512 semapv:UnspecifiedMatching -DOID:0050884 triosephosphate isomerase deficiency skos:exactMatch OMIM:615512 semapv:UnspecifiedMatching DOID:0050885 IMAGe syndrome oboInOwl:hasDbXref GARD:12312 semapv:UnspecifiedMatching -DOID:0050885 IMAGe syndrome oboInOwl:hasDbXref OMIM:614732 semapv:UnspecifiedMatching -DOID:0050885 IMAGe syndrome skos:exactMatch OMIM:614732 semapv:UnspecifiedMatching DOID:0050886 Troyer syndrome oboInOwl:hasDbXref GARD:5372 semapv:UnspecifiedMatching DOID:0050886 Troyer syndrome oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0050886 Troyer syndrome oboInOwl:hasDbXref OMIM:275900 semapv:UnspecifiedMatching DOID:0050886 Troyer syndrome oboInOwl:hasDbXref ORDO:101000 semapv:UnspecifiedMatching -DOID:0050886 Troyer syndrome skos:exactMatch OMIM:275900 semapv:UnspecifiedMatching DOID:0050887 Townes-Brocks syndrome oboInOwl:hasDbXref GARD:7784 semapv:UnspecifiedMatching DOID:0050887 Townes-Brocks syndrome oboInOwl:hasDbXref MESH:C536974 semapv:UnspecifiedMatching -DOID:0050887 Townes-Brocks syndrome oboInOwl:hasDbXref OMIM:107480 semapv:UnspecifiedMatching -DOID:0050887 Townes-Brocks syndrome skos:exactMatch OMIM:107480 semapv:UnspecifiedMatching DOID:0050891 adrenal cortical adenoma oboInOwl:hasDbXref ICDO:8370/0 semapv:UnspecifiedMatching DOID:0050894 ameloblastoma oboInOwl:hasDbXref GARD:5747 semapv:UnspecifiedMatching DOID:0050894 ameloblastoma oboInOwl:hasDbXref ICDO:9310/0 semapv:UnspecifiedMatching @@ -1613,210 +1062,70 @@ DOID:0050902 medulloblastoma oboInOwl:hasDbXref MESH:D018242 semapv:UnspecifiedM DOID:0050902 medulloblastoma oboInOwl:hasDbXref NCI:C27294 semapv:UnspecifiedMatching DOID:0050902 medulloblastoma oboInOwl:hasDbXref NCI:C3222 semapv:UnspecifiedMatching DOID:0050902 medulloblastoma oboInOwl:hasDbXref NCI:C3716 semapv:UnspecifiedMatching -DOID:0050902 medulloblastoma oboInOwl:hasDbXref OMIM:155255 semapv:UnspecifiedMatching DOID:0050902 medulloblastoma oboInOwl:hasDbXref ORDO:616 semapv:UnspecifiedMatching DOID:0050902 medulloblastoma oboInOwl:hasDbXref UMLS:C0025149 semapv:UnspecifiedMatching DOID:0050902 medulloblastoma oboInOwl:hasDbXref UMLS:C0206663 semapv:UnspecifiedMatching DOID:0050902 medulloblastoma oboInOwl:hasDbXref UMLS:C1334410 semapv:UnspecifiedMatching -DOID:0050902 medulloblastoma skos:exactMatch OMIM:155255 semapv:UnspecifiedMatching DOID:0050905 inflammatory myofibroblastic tumor oboInOwl:hasDbXref GARD:7146 semapv:UnspecifiedMatching DOID:0050908 myelodysplastic syndrome oboInOwl:hasDbXref GARD:7132 semapv:UnspecifiedMatching DOID:0050908 myelodysplastic syndrome oboInOwl:hasDbXref ICDO:9989/3 semapv:UnspecifiedMatching DOID:0050908 myelodysplastic syndrome oboInOwl:hasDbXref MESH:D009190 semapv:UnspecifiedMatching -DOID:0050908 myelodysplastic syndrome oboInOwl:hasDbXref OMIM:614286 semapv:UnspecifiedMatching DOID:0050908 myelodysplastic syndrome oboInOwl:hasDbXref UMLS:C2713368 semapv:UnspecifiedMatching -DOID:0050908 myelodysplastic syndrome skos:exactMatch OMIM:614286 semapv:UnspecifiedMatching DOID:0050909 extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue oboInOwl:hasDbXref ICDO:9699/3 semapv:UnspecifiedMatching DOID:0050909 extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue oboInOwl:hasDbXref NCI:C3898 semapv:UnspecifiedMatching -DOID:0050909 extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue oboInOwl:hasDbXref OMIM:137245 semapv:UnspecifiedMatching -DOID:0050909 extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue skos:exactMatch OMIM:137245 semapv:UnspecifiedMatching DOID:0050915 rectal adenoma oboInOwl:hasDbXref NCI:C5546 semapv:UnspecifiedMatching -DOID:0050925 small intestine carcinoid neuroendocrine tumor oboInOwl:hasDbXref OMIM:114900 semapv:UnspecifiedMatching -DOID:0050925 small intestine carcinoid neuroendocrine tumor skos:exactMatch OMIM:114900 semapv:UnspecifiedMatching DOID:0050938 breast lobular carcinoma oboInOwl:hasDbXref ICDO:8520/3 semapv:UnspecifiedMatching DOID:0050938 breast lobular carcinoma oboInOwl:hasDbXref NCI:C3771 semapv:UnspecifiedMatching -DOID:0050941 spastic ataxia 2 oboInOwl:hasDbXref OMIM:611302 semapv:UnspecifiedMatching -DOID:0050941 spastic ataxia 2 skos:exactMatch OMIM:611302 semapv:UnspecifiedMatching -DOID:0050942 spastic ataxia 3 oboInOwl:hasDbXref OMIM:611390 semapv:UnspecifiedMatching -DOID:0050942 spastic ataxia 3 skos:exactMatch OMIM:611390 semapv:UnspecifiedMatching -DOID:0050943 spastic ataxia 4 oboInOwl:hasDbXref OMIM:613672 semapv:UnspecifiedMatching -DOID:0050943 spastic ataxia 4 skos:exactMatch OMIM:613672 semapv:UnspecifiedMatching -DOID:0050944 spastic ataxia 5 oboInOwl:hasDbXref OMIM:614487 semapv:UnspecifiedMatching -DOID:0050944 spastic ataxia 5 skos:exactMatch OMIM:614487 semapv:UnspecifiedMatching -DOID:0050945 spastic ataxia 7 oboInOwl:hasDbXref OMIM:108650 semapv:UnspecifiedMatching -DOID:0050945 spastic ataxia 7 skos:exactMatch OMIM:108650 semapv:UnspecifiedMatching DOID:0050946 Charlevoix-Saguenay spastic ataxia oboInOwl:hasDbXref GARD:4910 semapv:UnspecifiedMatching DOID:0050946 Charlevoix-Saguenay spastic ataxia oboInOwl:hasDbXref MESH:C536787 semapv:UnspecifiedMatching -DOID:0050946 Charlevoix-Saguenay spastic ataxia oboInOwl:hasDbXref OMIM:270550 semapv:UnspecifiedMatching -DOID:0050946 Charlevoix-Saguenay spastic ataxia skos:exactMatch OMIM:270550 semapv:UnspecifiedMatching -DOID:0050947 hereditary hypophosphatemic rickets with hypercalciuria oboInOwl:hasDbXref OMIM:241530 semapv:UnspecifiedMatching -DOID:0050947 hereditary hypophosphatemic rickets with hypercalciuria skos:exactMatch OMIM:241530 semapv:UnspecifiedMatching -DOID:0050948 autosomal dominant hypophosphatemic rickets oboInOwl:hasDbXref OMIM:193100 semapv:UnspecifiedMatching -DOID:0050948 autosomal dominant hypophosphatemic rickets skos:exactMatch OMIM:193100 semapv:UnspecifiedMatching -DOID:0050949 autosomal recessive hypophosphatemic rickets oboInOwl:hasDbXref OMIM:241520 semapv:UnspecifiedMatching -DOID:0050949 autosomal recessive hypophosphatemic rickets oboInOwl:hasDbXref OMIM:613312 semapv:UnspecifiedMatching DOID:0050949 autosomal recessive hypophosphatemic rickets oboInOwl:hasDbXref ORDO:289176 semapv:UnspecifiedMatching -DOID:0050950 autosomal recessive cerebellar ataxia oboInOwl:hasDbXref OMIMPS:213200 semapv:UnspecifiedMatching DOID:0050950 autosomal recessive cerebellar ataxia oboInOwl:hasDbXref ORDO:1172 semapv:UnspecifiedMatching -DOID:0050950 autosomal recessive cerebellar ataxia skos:exactMatch OMIMPS:213200 semapv:UnspecifiedMatching DOID:0050951 hereditary ataxia oboInOwl:hasDbXref GARD:6614 semapv:UnspecifiedMatching DOID:0050952 spastic ataxia oboInOwl:hasDbXref MESH:C564815 semapv:UnspecifiedMatching DOID:0050954 spinocerebellar ataxia type 1 oboInOwl:hasDbXref GARD:4071 semapv:UnspecifiedMatching -DOID:0050954 spinocerebellar ataxia type 1 oboInOwl:hasDbXref OMIM:164400 semapv:UnspecifiedMatching -DOID:0050954 spinocerebellar ataxia type 1 skos:exactMatch OMIM:164400 semapv:UnspecifiedMatching -DOID:0050955 spinocerebellar ataxia type 2 oboInOwl:hasDbXref OMIM:183090 semapv:UnspecifiedMatching -DOID:0050955 spinocerebellar ataxia type 2 skos:exactMatch OMIM:183090 semapv:UnspecifiedMatching DOID:0050956 spinocerebellar ataxia type 6 oboInOwl:hasDbXref GARD:10351 semapv:UnspecifiedMatching -DOID:0050956 spinocerebellar ataxia type 6 oboInOwl:hasDbXref OMIM:183086 semapv:UnspecifiedMatching -DOID:0050956 spinocerebellar ataxia type 6 skos:exactMatch OMIM:183086 semapv:UnspecifiedMatching DOID:0050957 spinocerebellar ataxia type 4 oboInOwl:hasDbXref GARD:9970 semapv:UnspecifiedMatching DOID:0050957 spinocerebellar ataxia type 4 oboInOwl:hasDbXref MESH:D020754 semapv:UnspecifiedMatching -DOID:0050957 spinocerebellar ataxia type 4 oboInOwl:hasDbXref OMIM:600223 semapv:UnspecifiedMatching DOID:0050957 spinocerebellar ataxia type 4 oboInOwl:hasDbXref ORDO:98765 semapv:UnspecifiedMatching DOID:0050957 spinocerebellar ataxia type 4 oboInOwl:hasDbXref UMLS:C0752122 semapv:UnspecifiedMatching -DOID:0050957 spinocerebellar ataxia type 4 skos:exactMatch OMIM:600223 semapv:UnspecifiedMatching -DOID:0050958 spinocerebellar ataxia type 7 oboInOwl:hasDbXref OMIM:164500 semapv:UnspecifiedMatching -DOID:0050958 spinocerebellar ataxia type 7 skos:exactMatch OMIM:164500 semapv:UnspecifiedMatching -DOID:0050959 spinocerebellar ataxia type 8 oboInOwl:hasDbXref OMIM:608768 semapv:UnspecifiedMatching -DOID:0050959 spinocerebellar ataxia type 8 skos:exactMatch OMIM:608768 semapv:UnspecifiedMatching DOID:0050960 spinocerebellar ataxia type 10 oboInOwl:hasDbXref GARD:10474 semapv:UnspecifiedMatching -DOID:0050960 spinocerebellar ataxia type 10 oboInOwl:hasDbXref OMIM:603516 semapv:UnspecifiedMatching -DOID:0050960 spinocerebellar ataxia type 10 skos:exactMatch OMIM:603516 semapv:UnspecifiedMatching -DOID:0050961 spinocerebellar ataxia type 11 oboInOwl:hasDbXref OMIM:604432 semapv:UnspecifiedMatching -DOID:0050961 spinocerebellar ataxia type 11 skos:exactMatch OMIM:604432 semapv:UnspecifiedMatching -DOID:0050962 spinocerebellar ataxia type 12 oboInOwl:hasDbXref OMIM:604326 semapv:UnspecifiedMatching -DOID:0050962 spinocerebellar ataxia type 12 skos:exactMatch OMIM:604326 semapv:UnspecifiedMatching -DOID:0050963 spinocerebellar ataxia type 13 oboInOwl:hasDbXref OMIM:605259 semapv:UnspecifiedMatching -DOID:0050963 spinocerebellar ataxia type 13 skos:exactMatch OMIM:605259 semapv:UnspecifiedMatching -DOID:0050964 spinocerebellar ataxia type 14 oboInOwl:hasDbXref OMIM:605361 semapv:UnspecifiedMatching -DOID:0050964 spinocerebellar ataxia type 14 skos:exactMatch OMIM:605361 semapv:UnspecifiedMatching -DOID:0050965 spinocerebellar ataxia type 15 oboInOwl:hasDbXref OMIM:606658 semapv:UnspecifiedMatching -DOID:0050965 spinocerebellar ataxia type 15 skos:exactMatch OMIM:606658 semapv:UnspecifiedMatching DOID:0050967 spinocerebellar ataxia type 17 oboInOwl:hasDbXref GARD:10469 semapv:UnspecifiedMatching -DOID:0050967 spinocerebellar ataxia type 17 oboInOwl:hasDbXref OMIM:607136 semapv:UnspecifiedMatching -DOID:0050967 spinocerebellar ataxia type 17 skos:exactMatch OMIM:607136 semapv:UnspecifiedMatching DOID:0050968 autosomal dominant cerebellar ataxia, deafness and narcolepsy oboInOwl:hasDbXref GARD:12372 semapv:UnspecifiedMatching -DOID:0050968 autosomal dominant cerebellar ataxia, deafness and narcolepsy oboInOwl:hasDbXref OMIM:604121 semapv:UnspecifiedMatching -DOID:0050968 autosomal dominant cerebellar ataxia, deafness and narcolepsy skos:exactMatch OMIM:604121 semapv:UnspecifiedMatching DOID:0050969 spinocerebellar ataxia type 18 oboInOwl:hasDbXref GARD:9976 semapv:UnspecifiedMatching -DOID:0050969 spinocerebellar ataxia type 18 oboInOwl:hasDbXref OMIM:607458 semapv:UnspecifiedMatching -DOID:0050969 spinocerebellar ataxia type 18 skos:exactMatch OMIM:607458 semapv:UnspecifiedMatching DOID:0050970 spinocerebellar ataxia type 19/22 oboInOwl:hasDbXref GARD:12365 semapv:UnspecifiedMatching -DOID:0050970 spinocerebellar ataxia type 19/22 oboInOwl:hasDbXref OMIM:607346 semapv:UnspecifiedMatching -DOID:0050970 spinocerebellar ataxia type 19/22 skos:exactMatch OMIM:607346 semapv:UnspecifiedMatching DOID:0050971 spinocerebellar ataxia type 20 oboInOwl:hasDbXref GARD:9997 semapv:UnspecifiedMatching -DOID:0050971 spinocerebellar ataxia type 20 oboInOwl:hasDbXref OMIM:608687 semapv:UnspecifiedMatching -DOID:0050971 spinocerebellar ataxia type 20 skos:exactMatch OMIM:608687 semapv:UnspecifiedMatching DOID:0050972 spinocerebellar ataxia type 21 oboInOwl:hasDbXref GARD:9999 semapv:UnspecifiedMatching -DOID:0050972 spinocerebellar ataxia type 21 oboInOwl:hasDbXref OMIM:607454 semapv:UnspecifiedMatching -DOID:0050972 spinocerebellar ataxia type 21 skos:exactMatch OMIM:607454 semapv:UnspecifiedMatching -DOID:0050973 spinocerebellar ataxia type 23 oboInOwl:hasDbXref OMIM:610245 semapv:UnspecifiedMatching -DOID:0050973 spinocerebellar ataxia type 23 skos:exactMatch OMIM:610245 semapv:UnspecifiedMatching DOID:0050974 spinocerebellar ataxia type 25 oboInOwl:hasDbXref GARD:9996 semapv:UnspecifiedMatching DOID:0050974 spinocerebellar ataxia type 25 oboInOwl:hasDbXref MESH:C537202 semapv:UnspecifiedMatching -DOID:0050974 spinocerebellar ataxia type 25 oboInOwl:hasDbXref OMIM:608703 semapv:UnspecifiedMatching -DOID:0050974 spinocerebellar ataxia type 25 skos:exactMatch OMIM:608703 semapv:UnspecifiedMatching DOID:0050975 spinocerebellar ataxia type 26 oboInOwl:hasDbXref GARD:9995 semapv:UnspecifiedMatching DOID:0050975 spinocerebellar ataxia type 26 oboInOwl:hasDbXref MESH:C537203 semapv:UnspecifiedMatching -DOID:0050975 spinocerebellar ataxia type 26 oboInOwl:hasDbXref OMIM:609306 semapv:UnspecifiedMatching -DOID:0050975 spinocerebellar ataxia type 26 skos:exactMatch OMIM:609306 semapv:UnspecifiedMatching DOID:0050976 spinocerebellar ataxia type 27 oboInOwl:hasDbXref GARD:9603 semapv:UnspecifiedMatching -DOID:0050976 spinocerebellar ataxia type 27 oboInOwl:hasDbXref OMIM:193003 semapv:UnspecifiedMatching -DOID:0050976 spinocerebellar ataxia type 27 skos:exactMatch OMIM:193003 semapv:UnspecifiedMatching -DOID:0050977 spinocerebellar ataxia type 28 oboInOwl:hasDbXref OMIM:610246 semapv:UnspecifiedMatching -DOID:0050977 spinocerebellar ataxia type 28 skos:exactMatch OMIM:610246 semapv:UnspecifiedMatching -DOID:0050978 spinocerebellar ataxia type 29 oboInOwl:hasDbXref OMIM:117360 semapv:UnspecifiedMatching -DOID:0050978 spinocerebellar ataxia type 29 skos:exactMatch OMIM:117360 semapv:UnspecifiedMatching DOID:0050979 spinocerebellar ataxia type 30 oboInOwl:hasDbXref GARD:4950 semapv:UnspecifiedMatching -DOID:0050979 spinocerebellar ataxia type 30 oboInOwl:hasDbXref OMIM:613371 semapv:UnspecifiedMatching -DOID:0050979 spinocerebellar ataxia type 30 skos:exactMatch OMIM:613371 semapv:UnspecifiedMatching -DOID:0050980 spinocerebellar ataxia type 31 oboInOwl:hasDbXref OMIM:117210 semapv:UnspecifiedMatching -DOID:0050980 spinocerebellar ataxia type 31 skos:exactMatch OMIM:117210 semapv:UnspecifiedMatching -DOID:0050981 spinocerebellar ataxia type 34 oboInOwl:hasDbXref OMIM:133190 semapv:UnspecifiedMatching -DOID:0050981 spinocerebellar ataxia type 34 skos:exactMatch OMIM:133190 semapv:UnspecifiedMatching -DOID:0050982 spinocerebellar ataxia type 35 oboInOwl:hasDbXref OMIM:613908 semapv:UnspecifiedMatching -DOID:0050982 spinocerebellar ataxia type 35 skos:exactMatch OMIM:613908 semapv:UnspecifiedMatching -DOID:0050983 spinocerebellar ataxia type 36 oboInOwl:hasDbXref OMIM:614153 semapv:UnspecifiedMatching -DOID:0050983 spinocerebellar ataxia type 36 skos:exactMatch OMIM:614153 semapv:UnspecifiedMatching -DOID:0050984 spinocerebellar ataxia type 37 oboInOwl:hasDbXref OMIM:615945 semapv:UnspecifiedMatching -DOID:0050984 spinocerebellar ataxia type 37 skos:exactMatch OMIM:615945 semapv:UnspecifiedMatching -DOID:0050985 spinocerebellar ataxia type 38 oboInOwl:hasDbXref OMIM:615957 semapv:UnspecifiedMatching -DOID:0050985 spinocerebellar ataxia type 38 skos:exactMatch OMIM:615957 semapv:UnspecifiedMatching -DOID:0050986 spinocerebellar ataxia type 40 oboInOwl:hasDbXref OMIM:616053 semapv:UnspecifiedMatching -DOID:0050986 spinocerebellar ataxia type 40 skos:exactMatch OMIM:616053 semapv:UnspecifiedMatching -DOID:0050989 episodic ataxia type 1 oboInOwl:hasDbXref OMIM:160120 semapv:UnspecifiedMatching -DOID:0050989 episodic ataxia type 1 skos:exactMatch OMIM:160120 semapv:UnspecifiedMatching DOID:0050990 episodic ataxia type 2 oboInOwl:hasDbXref MESH:C535506 semapv:UnspecifiedMatching -DOID:0050990 episodic ataxia type 2 oboInOwl:hasDbXref OMIM:108500 semapv:UnspecifiedMatching -DOID:0050990 episodic ataxia type 2 skos:exactMatch OMIM:108500 semapv:UnspecifiedMatching -DOID:0050991 episodic ataxia type 3 oboInOwl:hasDbXref OMIM:606554 semapv:UnspecifiedMatching -DOID:0050991 episodic ataxia type 3 skos:exactMatch OMIM:606554 semapv:UnspecifiedMatching -DOID:0050992 episodic ataxia type 4 oboInOwl:hasDbXref OMIM:606552 semapv:UnspecifiedMatching -DOID:0050992 episodic ataxia type 4 skos:exactMatch OMIM:606552 semapv:UnspecifiedMatching -DOID:0050993 episodic ataxia type 5 oboInOwl:hasDbXref OMIM:613855 semapv:UnspecifiedMatching -DOID:0050993 episodic ataxia type 5 skos:exactMatch OMIM:613855 semapv:UnspecifiedMatching -DOID:0050994 episodic ataxia type 6 oboInOwl:hasDbXref OMIM:612656 semapv:UnspecifiedMatching -DOID:0050994 episodic ataxia type 6 skos:exactMatch OMIM:612656 semapv:UnspecifiedMatching -DOID:0050995 episodic ataxia type 7 oboInOwl:hasDbXref OMIM:611907 semapv:UnspecifiedMatching -DOID:0050995 episodic ataxia type 7 skos:exactMatch OMIM:611907 semapv:UnspecifiedMatching -DOID:0050996 episodic ataxia type 8 oboInOwl:hasDbXref OMIM:616055 semapv:UnspecifiedMatching -DOID:0050996 episodic ataxia type 8 skos:exactMatch OMIM:616055 semapv:UnspecifiedMatching DOID:0050997 cerebellar ataxia, mental retardation and dysequlibrium syndrome oboInOwl:hasDbXref GARD:1998 semapv:UnspecifiedMatching -DOID:0050997 cerebellar ataxia, mental retardation and dysequlibrium syndrome oboInOwl:hasDbXref OMIM:224050 semapv:UnspecifiedMatching -DOID:0050997 cerebellar ataxia, mental retardation and dysequlibrium syndrome oboInOwl:hasDbXref OMIM:610185 semapv:UnspecifiedMatching -DOID:0050997 cerebellar ataxia, mental retardation and dysequlibrium syndrome oboInOwl:hasDbXref OMIM:613227 semapv:UnspecifiedMatching -DOID:0050997 cerebellar ataxia, mental retardation and dysequlibrium syndrome oboInOwl:hasDbXref OMIM:615268 semapv:UnspecifiedMatching -DOID:0050998 nonprogressive cerebellar ataxia with mental retardation oboInOwl:hasDbXref OMIM:614756 semapv:UnspecifiedMatching -DOID:0050998 nonprogressive cerebellar ataxia with mental retardation skos:exactMatch OMIM:614756 semapv:UnspecifiedMatching -DOID:0050999 autosomal recessive spinocerebellar ataxia 10 oboInOwl:hasDbXref OMIM:613728 semapv:UnspecifiedMatching -DOID:0050999 autosomal recessive spinocerebellar ataxia 10 skos:exactMatch OMIM:613728 semapv:UnspecifiedMatching DOID:0060000 infective endocarditis oboInOwl:hasDbXref GARD:6337 semapv:UnspecifiedMatching -DOID:0060008 janus kinase-3 deficiency oboInOwl:hasDbXref OMIM:600802 semapv:UnspecifiedMatching -DOID:0060008 janus kinase-3 deficiency skos:exactMatch OMIM:600802 semapv:UnspecifiedMatching -DOID:0060009 MHC class I deficiency oboInOwl:hasDbXref OMIM:604571 semapv:UnspecifiedMatching -DOID:0060009 MHC class I deficiency skos:exactMatch OMIM:604571 semapv:UnspecifiedMatching DOID:0060010 Omenn syndrome oboInOwl:hasDbXref GARD:8198 semapv:UnspecifiedMatching DOID:0060010 Omenn syndrome oboInOwl:hasDbXref ICD10CM:D81.8 semapv:UnspecifiedMatching -DOID:0060010 Omenn syndrome oboInOwl:hasDbXref OMIM:603554 semapv:UnspecifiedMatching -DOID:0060010 Omenn syndrome skos:exactMatch OMIM:603554 semapv:UnspecifiedMatching DOID:0060013 X-linked severe combined immunodeficiency oboInOwl:hasDbXref GARD:5618 semapv:UnspecifiedMatching DOID:0060013 X-linked severe combined immunodeficiency oboInOwl:hasDbXref MESH:D053632 semapv:UnspecifiedMatching DOID:0060013 X-linked severe combined immunodeficiency oboInOwl:hasDbXref NCI:C4682 semapv:UnspecifiedMatching -DOID:0060013 X-linked severe combined immunodeficiency oboInOwl:hasDbXref OMIM:300400 semapv:UnspecifiedMatching DOID:0060013 X-linked severe combined immunodeficiency oboInOwl:hasDbXref UMLS:C1279481 semapv:UnspecifiedMatching -DOID:0060013 X-linked severe combined immunodeficiency skos:exactMatch OMIM:300400 semapv:UnspecifiedMatching -DOID:0060019 coronin-1A deficiency oboInOwl:hasDbXref OMIM:615401 semapv:UnspecifiedMatching -DOID:0060019 coronin-1A deficiency skos:exactMatch OMIM:615401 semapv:UnspecifiedMatching DOID:0060020 reticular dysgenesis oboInOwl:hasDbXref GARD:8625 semapv:UnspecifiedMatching DOID:0060020 reticular dysgenesis oboInOwl:hasDbXref MESH:C538361 semapv:UnspecifiedMatching DOID:0060020 reticular dysgenesis oboInOwl:hasDbXref NCI:C27070 semapv:UnspecifiedMatching -DOID:0060020 reticular dysgenesis oboInOwl:hasDbXref OMIM:267500 semapv:UnspecifiedMatching DOID:0060020 reticular dysgenesis oboInOwl:hasDbXref UMLS:C0272167 semapv:UnspecifiedMatching -DOID:0060020 reticular dysgenesis skos:exactMatch OMIM:267500 semapv:UnspecifiedMatching -DOID:0060021 DNA ligase IV deficiency oboInOwl:hasDbXref OMIM:606593 semapv:UnspecifiedMatching -DOID:0060021 DNA ligase IV deficiency skos:exactMatch OMIM:606593 semapv:UnspecifiedMatching -DOID:0060022 CD40 ligand deficiency oboInOwl:hasDbXref OMIM:308230 semapv:UnspecifiedMatching -DOID:0060022 CD40 ligand deficiency skos:exactMatch OMIM:308230 semapv:UnspecifiedMatching DOID:0060023 immunodeficiency with hyper IgM type 3 oboInOwl:hasDbXref GARD:10579 semapv:UnspecifiedMatching DOID:0060023 immunodeficiency with hyper IgM type 3 oboInOwl:hasDbXref NCI:C176416 semapv:UnspecifiedMatching -DOID:0060023 immunodeficiency with hyper IgM type 3 oboInOwl:hasDbXref OMIM:606843 semapv:UnspecifiedMatching DOID:0060023 immunodeficiency with hyper IgM type 3 oboInOwl:hasDbXref ORDO:101090 semapv:UnspecifiedMatching DOID:0060023 immunodeficiency with hyper IgM type 3 oboInOwl:hasDbXref UMLS:C1720957 semapv:UnspecifiedMatching DOID:0060023 immunodeficiency with hyper IgM type 3 skos:exactMatch GARD:10579 semapv:UnspecifiedMatching DOID:0060023 immunodeficiency with hyper IgM type 3 skos:exactMatch NCI:C176416 semapv:UnspecifiedMatching -DOID:0060023 immunodeficiency with hyper IgM type 3 skos:exactMatch OMIM:606843 semapv:UnspecifiedMatching -DOID:0060023 immunodeficiency with hyper IgM type 3 skos:exactMatch OMIM:606843 semapv:UnspecifiedMatching DOID:0060023 immunodeficiency with hyper IgM type 3 skos:exactMatch ORDO:101090 semapv:UnspecifiedMatching DOID:0060023 immunodeficiency with hyper IgM type 3 skos:exactMatch UMLS:C1720957 semapv:UnspecifiedMatching DOID:0060025 immunoglobulin alpha deficiency oboInOwl:hasDbXref GARD:10197 semapv:UnspecifiedMatching DOID:0060025 immunoglobulin alpha deficiency oboInOwl:hasDbXref MESH:D017098 semapv:UnspecifiedMatching -DOID:0060025 immunoglobulin alpha deficiency oboInOwl:hasDbXref OMIM:137100 semapv:UnspecifiedMatching -DOID:0060025 immunoglobulin alpha deficiency oboInOwl:hasDbXref OMIM:269650 semapv:UnspecifiedMatching -DOID:0060025 immunoglobulin alpha deficiency oboInOwl:hasDbXref OMIM:609529 semapv:UnspecifiedMatching DOID:0060025 immunoglobulin alpha deficiency oboInOwl:hasDbXref ORDO:69127 semapv:UnspecifiedMatching DOID:0060025 immunoglobulin alpha deficiency oboInOwl:hasDbXref UMLS:C0162538 semapv:UnspecifiedMatching -DOID:0060027 agammaglobulinemia 4 oboInOwl:hasDbXref OMIM:613502 semapv:UnspecifiedMatching -DOID:0060027 agammaglobulinemia 4 skos:exactMatch OMIM:613502 semapv:UnspecifiedMatching DOID:0060040 pervasive developmental disorder oboInOwl:hasDbXref ICD9CM:299.80 semapv:UnspecifiedMatching DOID:0060040 pervasive developmental disorder oboInOwl:hasDbXref UMLS:C0154451 semapv:UnspecifiedMatching DOID:0060041 autism spectrum disorder oboInOwl:hasDbXref GARD:10248 semapv:UnspecifiedMatching @@ -1826,8 +1135,6 @@ DOID:0060046 aphasia skos:exactMatch MESH:D001037 semapv:UnspecifiedMatching DOID:0060055 popliteal pterygium syndrome oboInOwl:hasDbXref GARD:3242 semapv:UnspecifiedMatching DOID:0060055 popliteal pterygium syndrome oboInOwl:hasDbXref MESH:C562509 semapv:UnspecifiedMatching DOID:0060055 popliteal pterygium syndrome oboInOwl:hasDbXref NCI:C118786 semapv:UnspecifiedMatching -DOID:0060055 popliteal pterygium syndrome oboInOwl:hasDbXref OMIM:119500 semapv:UnspecifiedMatching -DOID:0060055 popliteal pterygium syndrome oboInOwl:hasDbXref OMIM:263650 semapv:UnspecifiedMatching DOID:0060055 popliteal pterygium syndrome oboInOwl:hasDbXref ORDO:1300 semapv:UnspecifiedMatching DOID:0060055 popliteal pterygium syndrome oboInOwl:hasDbXref ORDO:294963 semapv:UnspecifiedMatching DOID:0060055 popliteal pterygium syndrome oboInOwl:hasDbXref UMLS:C0265259 semapv:UnspecifiedMatching @@ -1842,28 +1149,15 @@ DOID:0060060 non-Hodgkin lymphoma oboInOwl:hasDbXref ICD10CM:C85.9 semapv:Unspec DOID:0060060 non-Hodgkin lymphoma oboInOwl:hasDbXref ICDO:9591/3 semapv:UnspecifiedMatching DOID:0060060 non-Hodgkin lymphoma oboInOwl:hasDbXref MESH:D008228 semapv:UnspecifiedMatching DOID:0060060 non-Hodgkin lymphoma oboInOwl:hasDbXref NCI:C3211 semapv:UnspecifiedMatching -DOID:0060060 non-Hodgkin lymphoma oboInOwl:hasDbXref OMIM:605027 semapv:UnspecifiedMatching DOID:0060060 non-Hodgkin lymphoma oboInOwl:hasDbXref ORDO:547 semapv:UnspecifiedMatching DOID:0060060 non-Hodgkin lymphoma oboInOwl:hasDbXref UMLS:C0024305 semapv:UnspecifiedMatching -DOID:0060060 non-Hodgkin lymphoma skos:exactMatch OMIM:605027 semapv:UnspecifiedMatching DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma oboInOwl:hasDbXref GARD:6226 semapv:UnspecifiedMatching DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma oboInOwl:hasDbXref MESH:D016410 semapv:UnspecifiedMatching DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma oboInOwl:hasDbXref NCI:C3467 semapv:UnspecifiedMatching -DOID:0060062 familial juvenile hyperuricemic nephropathy oboInOwl:hasDbXref OMIM:162000 semapv:UnspecifiedMatching -DOID:0060062 familial juvenile hyperuricemic nephropathy oboInOwl:hasDbXref OMIM:613092 semapv:UnspecifiedMatching -DOID:0060062 familial juvenile hyperuricemic nephropathy oboInOwl:hasDbXref OMIM:614227 semapv:UnspecifiedMatching DOID:0060062 familial juvenile hyperuricemic nephropathy oboInOwl:hasDbXref ORDO:209886 semapv:UnspecifiedMatching DOID:0060062 familial juvenile hyperuricemic nephropathy oboInOwl:hasDbXref ORDO:217330 semapv:UnspecifiedMatching DOID:0060063 sideroblastic anemia 1 oboInOwl:hasDbXref GARD:9456 semapv:UnspecifiedMatching -DOID:0060063 sideroblastic anemia 1 oboInOwl:hasDbXref OMIM:300751 semapv:UnspecifiedMatching -DOID:0060063 sideroblastic anemia 1 skos:exactMatch OMIM:300751 semapv:UnspecifiedMatching -DOID:0060065 autosomal recessive pyridoxine-refractory sideroblastic anemia 2 oboInOwl:hasDbXref OMIM:205950 semapv:UnspecifiedMatching -DOID:0060065 autosomal recessive pyridoxine-refractory sideroblastic anemia 2 skos:exactMatch OMIM:205950 semapv:UnspecifiedMatching -DOID:0060066 pyridoxine-responsive sideroblastic anemia oboInOwl:hasDbXref OMIM:206000 semapv:UnspecifiedMatching -DOID:0060066 pyridoxine-responsive sideroblastic anemia skos:exactMatch OMIM:206000 semapv:UnspecifiedMatching DOID:0060067 Pearson syndrome oboInOwl:hasDbXref GARD:7343 semapv:UnspecifiedMatching -DOID:0060067 Pearson syndrome oboInOwl:hasDbXref OMIM:557000 semapv:UnspecifiedMatching -DOID:0060067 Pearson syndrome skos:exactMatch OMIM:557000 semapv:UnspecifiedMatching DOID:0060068 nonbacterial thrombotic endocarditis oboInOwl:hasDbXref MESH:D059905 semapv:UnspecifiedMatching DOID:0060083 immune system cancer oboInOwl:hasDbXref ICDO:9392/3 semapv:UnspecifiedMatching DOID:0060098 osteoblastoma oboInOwl:hasDbXref ICDO:9200/0 semapv:UnspecifiedMatching @@ -1906,47 +1200,31 @@ DOID:0060160 childhood spinal muscular atrophy oboInOwl:hasDbXref UMLS:C0700595 DOID:0060161 Kennedy's disease oboInOwl:hasDbXref GARD:6818 semapv:UnspecifiedMatching DOID:0060161 Kennedy's disease oboInOwl:hasDbXref MESH:D055534 semapv:UnspecifiedMatching DOID:0060161 Kennedy's disease oboInOwl:hasDbXref NCI:C85233 semapv:UnspecifiedMatching -DOID:0060161 Kennedy's disease oboInOwl:hasDbXref OMIM:313200 semapv:UnspecifiedMatching DOID:0060161 Kennedy's disease oboInOwl:hasDbXref UMLS:C1839259 semapv:UnspecifiedMatching -DOID:0060161 Kennedy's disease skos:exactMatch OMIM:313200 semapv:UnspecifiedMatching DOID:0060162 dentatorubral-pallidoluysian atrophy oboInOwl:hasDbXref GARD:5643 semapv:UnspecifiedMatching DOID:0060162 dentatorubral-pallidoluysian atrophy oboInOwl:hasDbXref MESH:D020191 semapv:UnspecifiedMatching DOID:0060162 dentatorubral-pallidoluysian atrophy oboInOwl:hasDbXref NCI:C122653 semapv:UnspecifiedMatching -DOID:0060162 dentatorubral-pallidoluysian atrophy oboInOwl:hasDbXref OMIM:125370 semapv:UnspecifiedMatching DOID:0060162 dentatorubral-pallidoluysian atrophy oboInOwl:hasDbXref UMLS:C0751781 semapv:UnspecifiedMatching DOID:0060162 dentatorubral-pallidoluysian atrophy skos:exactMatch MESH:D020191 semapv:UnspecifiedMatching DOID:0060162 dentatorubral-pallidoluysian atrophy skos:exactMatch NCI:C122653 semapv:UnspecifiedMatching -DOID:0060162 dentatorubral-pallidoluysian atrophy skos:exactMatch OMIM:125370 semapv:UnspecifiedMatching DOID:0060162 dentatorubral-pallidoluysian atrophy skos:exactMatch UMLS:C0751781 semapv:UnspecifiedMatching DOID:0060165 Kleine-Levin syndrome oboInOwl:hasDbXref MESH:D017593 semapv:UnspecifiedMatching -DOID:0060165 Kleine-Levin syndrome oboInOwl:hasDbXref OMIM:148840 semapv:UnspecifiedMatching -DOID:0060165 Kleine-Levin syndrome skos:exactMatch OMIM:148840 semapv:UnspecifiedMatching DOID:0060167 seasonal affective disorder oboInOwl:hasDbXref MESH:D016574 semapv:UnspecifiedMatching DOID:0060168 histidinemia oboInOwl:hasDbXref GARD:6661 semapv:UnspecifiedMatching DOID:0060168 histidinemia oboInOwl:hasDbXref MESH:C538320 semapv:UnspecifiedMatching -DOID:0060168 histidinemia oboInOwl:hasDbXref OMIM:235800 semapv:UnspecifiedMatching -DOID:0060168 histidinemia skos:exactMatch OMIM:235800 semapv:UnspecifiedMatching DOID:0060169 benign familial infantile epilepsy oboInOwl:hasDbXref GARD:1518 semapv:UnspecifiedMatching DOID:0060169 benign familial infantile epilepsy oboInOwl:hasDbXref GARD:857 semapv:UnspecifiedMatching -DOID:0060169 benign familial infantile epilepsy oboInOwl:hasDbXref OMIMPS:601764 semapv:UnspecifiedMatching DOID:0060169 benign familial infantile epilepsy oboInOwl:hasDbXref ORDO:306 semapv:UnspecifiedMatching -DOID:0060169 benign familial infantile epilepsy skos:exactMatch OMIMPS:601764 semapv:UnspecifiedMatching DOID:0060170 generalized epilepsy with febrile seizures plus oboInOwl:hasDbXref ICD10CM:G40.3 semapv:UnspecifiedMatching DOID:0060170 generalized epilepsy with febrile seizures plus oboInOwl:hasDbXref MESH:C565808 semapv:UnspecifiedMatching DOID:0060170 generalized epilepsy with febrile seizures plus oboInOwl:hasDbXref ORDO:36387 semapv:UnspecifiedMatching DOID:0060173 Timothy syndrome oboInOwl:hasDbXref GARD:9294 semapv:UnspecifiedMatching DOID:0060173 Timothy syndrome oboInOwl:hasDbXref ICD10CM:G72.3 semapv:UnspecifiedMatching DOID:0060173 Timothy syndrome oboInOwl:hasDbXref MESH:C536962 semapv:UnspecifiedMatching -DOID:0060173 Timothy syndrome oboInOwl:hasDbXref OMIM:601005 semapv:UnspecifiedMatching DOID:0060173 Timothy syndrome oboInOwl:hasDbXref ORDO:65283 semapv:UnspecifiedMatching DOID:0060173 Timothy syndrome oboInOwl:hasDbXref UMLS:C1832916 semapv:UnspecifiedMatching DOID:0060173 Timothy syndrome skos:broadMatch UMLS:C1832916 semapv:UnspecifiedMatching -DOID:0060173 Timothy syndrome skos:exactMatch OMIM:601005 semapv:UnspecifiedMatching -DOID:0060174 GABA aminotransferase deficiency oboInOwl:hasDbXref OMIM:613163 semapv:UnspecifiedMatching -DOID:0060174 GABA aminotransferase deficiency skos:exactMatch OMIM:613163 semapv:UnspecifiedMatching DOID:0060175 succinic semialdehyde dehydrogenase deficiency oboInOwl:hasDbXref MESH:C535803 semapv:UnspecifiedMatching -DOID:0060175 succinic semialdehyde dehydrogenase deficiency oboInOwl:hasDbXref OMIM:271980 semapv:UnspecifiedMatching -DOID:0060175 succinic semialdehyde dehydrogenase deficiency skos:exactMatch OMIM:271980 semapv:UnspecifiedMatching DOID:0060177 homocarnosinosis oboInOwl:hasDbXref GARD:2730 semapv:UnspecifiedMatching DOID:0060177 homocarnosinosis oboInOwl:hasDbXref MESH:C535328 semapv:UnspecifiedMatching DOID:0060178 familial hemiplegic migraine oboInOwl:hasDbXref GARD:10975 semapv:UnspecifiedMatching @@ -1955,9 +1233,7 @@ DOID:0060178 familial hemiplegic migraine oboInOwl:hasDbXref ICD9CM:346.8 semapv DOID:0060178 familial hemiplegic migraine oboInOwl:hasDbXref ORDO:569 semapv:UnspecifiedMatching DOID:0060178 familial hemiplegic migraine oboInOwl:hasDbXref UMLS:C0477373 semapv:UnspecifiedMatching DOID:0060179 Renpenning syndrome oboInOwl:hasDbXref ICD10CM:Q87.5 semapv:UnspecifiedMatching -DOID:0060179 Renpenning syndrome oboInOwl:hasDbXref OMIM:309500 semapv:UnspecifiedMatching DOID:0060179 Renpenning syndrome oboInOwl:hasDbXref ORDO:3242 semapv:UnspecifiedMatching -DOID:0060179 Renpenning syndrome skos:exactMatch OMIM:309500 semapv:UnspecifiedMatching DOID:0060180 colitis oboInOwl:hasDbXref EFO:0003872 semapv:UnspecifiedMatching DOID:0060180 colitis oboInOwl:hasDbXref ICD10CM:K52.9 semapv:UnspecifiedMatching DOID:0060180 colitis oboInOwl:hasDbXref MESH:D003092 semapv:UnspecifiedMatching @@ -2014,58 +1290,18 @@ DOID:0060192 Crohn's colitis oboInOwl:hasDbXref MESH:D003424 semapv:UnspecifiedM DOID:0060192 Crohn's colitis oboInOwl:hasDbXref NCI:C37262 semapv:UnspecifiedMatching DOID:0060192 Crohn's colitis oboInOwl:hasDbXref UMLS:C0156147 semapv:UnspecifiedMatching DOID:0060193 amyotrophic lateral sclerosis type 1 oboInOwl:hasDbXref ICD10CM:G12.2 semapv:UnspecifiedMatching -DOID:0060193 amyotrophic lateral sclerosis type 1 oboInOwl:hasDbXref OMIM:105400 semapv:UnspecifiedMatching -DOID:0060193 amyotrophic lateral sclerosis type 1 skos:exactMatch OMIM:105400 semapv:UnspecifiedMatching DOID:0060194 amyotrophic lateral sclerosis type 2 oboInOwl:hasDbXref GARD:9470 semapv:UnspecifiedMatching DOID:0060194 amyotrophic lateral sclerosis type 2 oboInOwl:hasDbXref ICD10CM:G12.2 semapv:UnspecifiedMatching -DOID:0060194 amyotrophic lateral sclerosis type 2 oboInOwl:hasDbXref OMIM:205100 semapv:UnspecifiedMatching -DOID:0060194 amyotrophic lateral sclerosis type 2 skos:exactMatch OMIM:205100 semapv:UnspecifiedMatching DOID:0060195 amyotrophic lateral sclerosis type 3 oboInOwl:hasDbXref GARD:10501 semapv:UnspecifiedMatching -DOID:0060195 amyotrophic lateral sclerosis type 3 oboInOwl:hasDbXref OMIM:606640 semapv:UnspecifiedMatching -DOID:0060195 amyotrophic lateral sclerosis type 3 skos:exactMatch OMIM:606640 semapv:UnspecifiedMatching DOID:0060196 amyotrophic lateral sclerosis type 4 oboInOwl:hasDbXref GARD:10502 semapv:UnspecifiedMatching DOID:0060196 amyotrophic lateral sclerosis type 4 oboInOwl:hasDbXref ICD10CM:G12.2 semapv:UnspecifiedMatching -DOID:0060196 amyotrophic lateral sclerosis type 4 oboInOwl:hasDbXref OMIM:602433 semapv:UnspecifiedMatching DOID:0060196 amyotrophic lateral sclerosis type 4 oboInOwl:hasDbXref ORDO:357043 semapv:UnspecifiedMatching -DOID:0060196 amyotrophic lateral sclerosis type 4 skos:exactMatch OMIM:602433 semapv:UnspecifiedMatching DOID:0060197 amyotrophic lateral sclerosis type 5 oboInOwl:hasDbXref GARD:10503 semapv:UnspecifiedMatching -DOID:0060197 amyotrophic lateral sclerosis type 5 oboInOwl:hasDbXref OMIM:602099 semapv:UnspecifiedMatching -DOID:0060197 amyotrophic lateral sclerosis type 5 skos:exactMatch OMIM:602099 semapv:UnspecifiedMatching DOID:0060198 amyotrophic lateral sclerosis type 6 oboInOwl:hasDbXref GARD:9874 semapv:UnspecifiedMatching -DOID:0060198 amyotrophic lateral sclerosis type 6 oboInOwl:hasDbXref OMIM:608030 semapv:UnspecifiedMatching -DOID:0060198 amyotrophic lateral sclerosis type 6 skos:exactMatch OMIM:608030 semapv:UnspecifiedMatching DOID:0060199 amyotrophic lateral sclerosis type 7 oboInOwl:hasDbXref GARD:10500 semapv:UnspecifiedMatching -DOID:0060199 amyotrophic lateral sclerosis type 7 oboInOwl:hasDbXref OMIM:608031 semapv:UnspecifiedMatching -DOID:0060199 amyotrophic lateral sclerosis type 7 skos:exactMatch OMIM:608031 semapv:UnspecifiedMatching DOID:0060200 amyotrophic lateral sclerosis type 9 oboInOwl:hasDbXref GARD:10498 semapv:UnspecifiedMatching -DOID:0060200 amyotrophic lateral sclerosis type 9 oboInOwl:hasDbXref OMIM:611895 semapv:UnspecifiedMatching -DOID:0060200 amyotrophic lateral sclerosis type 9 skos:exactMatch OMIM:611895 semapv:UnspecifiedMatching DOID:0060201 amyotrophic lateral sclerosis type 10 oboInOwl:hasDbXref GARD:10497 semapv:UnspecifiedMatching -DOID:0060201 amyotrophic lateral sclerosis type 10 oboInOwl:hasDbXref OMIM:612069 semapv:UnspecifiedMatching -DOID:0060201 amyotrophic lateral sclerosis type 10 skos:exactMatch OMIM:612069 semapv:UnspecifiedMatching DOID:0060202 amyotrophic lateral sclerosis type 11 oboInOwl:hasDbXref GARD:10496 semapv:UnspecifiedMatching -DOID:0060202 amyotrophic lateral sclerosis type 11 oboInOwl:hasDbXref OMIM:612577 semapv:UnspecifiedMatching -DOID:0060202 amyotrophic lateral sclerosis type 11 skos:exactMatch OMIM:612577 semapv:UnspecifiedMatching -DOID:0060203 amyotrophic lateral sclerosis type 12 oboInOwl:hasDbXref OMIM:613435 semapv:UnspecifiedMatching -DOID:0060203 amyotrophic lateral sclerosis type 12 skos:exactMatch OMIM:613435 semapv:UnspecifiedMatching -DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 oboInOwl:hasDbXref OMIM:613954 semapv:UnspecifiedMatching -DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 skos:exactMatch OMIM:613954 semapv:UnspecifiedMatching -DOID:0060206 amyotrophic lateral sclerosis type 15 oboInOwl:hasDbXref OMIM:300857 semapv:UnspecifiedMatching -DOID:0060206 amyotrophic lateral sclerosis type 15 skos:exactMatch OMIM:300857 semapv:UnspecifiedMatching -DOID:0060207 amyotrophic lateral sclerosis type 16 oboInOwl:hasDbXref OMIM:614373 semapv:UnspecifiedMatching -DOID:0060207 amyotrophic lateral sclerosis type 16 skos:exactMatch OMIM:614373 semapv:UnspecifiedMatching -DOID:0060209 amyotrophic lateral sclerosis type 18 oboInOwl:hasDbXref OMIM:614808 semapv:UnspecifiedMatching -DOID:0060209 amyotrophic lateral sclerosis type 18 skos:exactMatch OMIM:614808 semapv:UnspecifiedMatching -DOID:0060210 amyotrophic lateral sclerosis type 19 oboInOwl:hasDbXref OMIM:615515 semapv:UnspecifiedMatching -DOID:0060210 amyotrophic lateral sclerosis type 19 skos:exactMatch OMIM:615515 semapv:UnspecifiedMatching -DOID:0060211 amyotrophic lateral sclerosis type 20 oboInOwl:hasDbXref OMIM:615426 semapv:UnspecifiedMatching -DOID:0060211 amyotrophic lateral sclerosis type 20 skos:exactMatch OMIM:615426 semapv:UnspecifiedMatching -DOID:0060212 amyotrophic lateral sclerosis type 21 oboInOwl:hasDbXref OMIM:606070 semapv:UnspecifiedMatching -DOID:0060212 amyotrophic lateral sclerosis type 21 skos:exactMatch OMIM:606070 semapv:UnspecifiedMatching -DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 oboInOwl:hasDbXref OMIM:105550 semapv:UnspecifiedMatching -DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:exactMatch OMIM:105550 semapv:UnspecifiedMatching -DOID:0060214 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 oboInOwl:hasDbXref OMIM:615911 semapv:UnspecifiedMatching -DOID:0060214 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 skos:exactMatch OMIM:615911 semapv:UnspecifiedMatching DOID:0060215 Balo concentric sclerosis oboInOwl:hasDbXref GARD:5885 semapv:UnspecifiedMatching DOID:0060215 Balo concentric sclerosis oboInOwl:hasDbXref ICD10CM:G37.0 semapv:UnspecifiedMatching DOID:0060215 Balo concentric sclerosis oboInOwl:hasDbXref ICD9CM:341.1 semapv:UnspecifiedMatching @@ -2090,14 +1326,10 @@ DOID:0060218 CREST syndrome oboInOwl:hasDbXref UMLS:C0206138 semapv:UnspecifiedM DOID:0060218 CREST syndrome oboInOwl:hasDbXref UMLS:C1527226 semapv:UnspecifiedMatching DOID:0060221 Maffucci syndrome oboInOwl:hasDbXref GARD:6958 semapv:UnspecifiedMatching DOID:0060221 Maffucci syndrome oboInOwl:hasDbXref ICD10CM:Q78.4 semapv:UnspecifiedMatching -DOID:0060221 Maffucci syndrome oboInOwl:hasDbXref OMIM:614569 semapv:UnspecifiedMatching DOID:0060221 Maffucci syndrome oboInOwl:hasDbXref ORDO:163634 semapv:UnspecifiedMatching -DOID:0060221 Maffucci syndrome skos:exactMatch OMIM:614569 semapv:UnspecifiedMatching DOID:0060222 Scheie syndrome oboInOwl:hasDbXref GARD:12561 semapv:UnspecifiedMatching DOID:0060222 Scheie syndrome oboInOwl:hasDbXref ICD10CM:E76.0 semapv:UnspecifiedMatching -DOID:0060222 Scheie syndrome oboInOwl:hasDbXref OMIM:607016 semapv:UnspecifiedMatching DOID:0060222 Scheie syndrome oboInOwl:hasDbXref ORDO:93474 semapv:UnspecifiedMatching -DOID:0060222 Scheie syndrome skos:exactMatch OMIM:607016 semapv:UnspecifiedMatching DOID:0060223 agraphia oboInOwl:hasDbXref ICD10CM:R48.8 semapv:UnspecifiedMatching DOID:0060223 agraphia oboInOwl:hasDbXref MESH:D000381 semapv:UnspecifiedMatching DOID:0060223 agraphia skos:exactMatch MESH:D000381 semapv:UnspecifiedMatching @@ -2108,122 +1340,70 @@ DOID:0060224 atrial fibrillation oboInOwl:hasDbXref UMLS:C0004238 semapv:Unspeci DOID:0060224 atrial fibrillation skos:exactMatch MESH:D001281 semapv:UnspecifiedMatching DOID:0060225 3MC syndrome oboInOwl:hasDbXref GARD:1118 semapv:UnspecifiedMatching DOID:0060225 3MC syndrome oboInOwl:hasDbXref ICD10CM:Q87.8 semapv:UnspecifiedMatching -DOID:0060225 3MC syndrome oboInOwl:hasDbXref OMIMPS:257920 semapv:UnspecifiedMatching DOID:0060225 3MC syndrome oboInOwl:hasDbXref ORDO:293843 semapv:UnspecifiedMatching -DOID:0060225 3MC syndrome skos:exactMatch OMIMPS:257920 semapv:UnspecifiedMatching DOID:0060226 acrofrontofacionasal dysostosis oboInOwl:hasDbXref MESH:C538186 semapv:UnspecifiedMatching -DOID:0060226 acrofrontofacionasal dysostosis oboInOwl:hasDbXref OMIM:201180 semapv:UnspecifiedMatching -DOID:0060226 acrofrontofacionasal dysostosis oboInOwl:hasDbXref OMIM:239710 semapv:UnspecifiedMatching DOID:0060226 acrofrontofacionasal dysostosis oboInOwl:hasDbXref ORDO:1784 semapv:UnspecifiedMatching DOID:0060226 acrofrontofacionasal dysostosis oboInOwl:hasDbXref UMLS:C1860118 semapv:UnspecifiedMatching DOID:0060227 Adams-Oliver syndrome oboInOwl:hasDbXref GARD:5739 semapv:UnspecifiedMatching -DOID:0060227 Adams-Oliver syndrome oboInOwl:hasDbXref OMIM:100300 semapv:UnspecifiedMatching -DOID:0060227 Adams-Oliver syndrome oboInOwl:hasDbXref OMIM:614219 semapv:UnspecifiedMatching -DOID:0060227 Adams-Oliver syndrome oboInOwl:hasDbXref OMIM:614814 semapv:UnspecifiedMatching -DOID:0060227 Adams-Oliver syndrome oboInOwl:hasDbXref OMIM:615297 semapv:UnspecifiedMatching -DOID:0060227 Adams-Oliver syndrome oboInOwl:hasDbXref OMIM:616028 semapv:UnspecifiedMatching -DOID:0060227 Adams-Oliver syndrome oboInOwl:hasDbXref OMIMPS:100300 semapv:UnspecifiedMatching DOID:0060227 Adams-Oliver syndrome oboInOwl:hasDbXref ORDO:974 semapv:UnspecifiedMatching DOID:0060227 Adams-Oliver syndrome oboInOwl:hasDbXref UMLS:C0265268 semapv:UnspecifiedMatching -DOID:0060228 intracranial berry aneurysm oboInOwl:hasDbXref OMIMPS:105800 semapv:UnspecifiedMatching DOID:0060228 intracranial berry aneurysm oboInOwl:hasDbXref ORDO:231160 semapv:UnspecifiedMatching -DOID:0060228 intracranial berry aneurysm skos:exactMatch OMIMPS:105800 semapv:UnspecifiedMatching DOID:0060229 Baraitser-Winter syndrome oboInOwl:hasDbXref GARD:5279 semapv:UnspecifiedMatching -DOID:0060229 Baraitser-Winter syndrome oboInOwl:hasDbXref OMIMPS:243310 semapv:UnspecifiedMatching DOID:0060229 Baraitser-Winter syndrome oboInOwl:hasDbXref ORDO:2995 semapv:UnspecifiedMatching -DOID:0060229 Baraitser-Winter syndrome skos:exactMatch OMIMPS:243310 semapv:UnspecifiedMatching DOID:0060230 basal ganglia calcification oboInOwl:hasDbXref MESH:C536275 semapv:UnspecifiedMatching -DOID:0060230 basal ganglia calcification oboInOwl:hasDbXref OMIM:114100 semapv:UnspecifiedMatching -DOID:0060230 basal ganglia calcification oboInOwl:hasDbXref OMIM:213600 semapv:UnspecifiedMatching -DOID:0060230 basal ganglia calcification oboInOwl:hasDbXref OMIM:615007 semapv:UnspecifiedMatching -DOID:0060230 basal ganglia calcification oboInOwl:hasDbXref OMIM:615483 semapv:UnspecifiedMatching DOID:0060230 basal ganglia calcification oboInOwl:hasDbXref UMLS:C0393590 semapv:UnspecifiedMatching DOID:0060231 Bruck syndrome oboInOwl:hasDbXref ICD10CM:M21.8 semapv:UnspecifiedMatching -DOID:0060231 Bruck syndrome oboInOwl:hasDbXref OMIM:259450 semapv:UnspecifiedMatching -DOID:0060231 Bruck syndrome oboInOwl:hasDbXref OMIM:609220 semapv:UnspecifiedMatching DOID:0060231 Bruck syndrome oboInOwl:hasDbXref ORDO:2771 semapv:UnspecifiedMatching DOID:0060232 branchiootic syndrome oboInOwl:hasDbXref GARD:10148 semapv:UnspecifiedMatching DOID:0060232 branchiootic syndrome oboInOwl:hasDbXref ICD10CM:Q87.0 semapv:UnspecifiedMatching DOID:0060232 branchiootic syndrome oboInOwl:hasDbXref MESH:C537104 semapv:UnspecifiedMatching -DOID:0060232 branchiootic syndrome oboInOwl:hasDbXref OMIM:120502 semapv:UnspecifiedMatching -DOID:0060232 branchiootic syndrome oboInOwl:hasDbXref OMIM:602588 semapv:UnspecifiedMatching -DOID:0060232 branchiootic syndrome oboInOwl:hasDbXref OMIM:608389 semapv:UnspecifiedMatching DOID:0060232 branchiootic syndrome oboInOwl:hasDbXref ORDO:52429 semapv:UnspecifiedMatching DOID:0060233 cardiofaciocutaneous syndrome oboInOwl:hasDbXref GARD:9146 semapv:UnspecifiedMatching DOID:0060233 cardiofaciocutaneous syndrome oboInOwl:hasDbXref ICD10CM:Q87.8 semapv:UnspecifiedMatching DOID:0060233 cardiofaciocutaneous syndrome oboInOwl:hasDbXref MESH:C535579 semapv:UnspecifiedMatching -DOID:0060233 cardiofaciocutaneous syndrome oboInOwl:hasDbXref OMIMPS:115150 semapv:UnspecifiedMatching DOID:0060233 cardiofaciocutaneous syndrome oboInOwl:hasDbXref ORDO:1340 semapv:UnspecifiedMatching -DOID:0060233 cardiofaciocutaneous syndrome skos:exactMatch OMIMPS:115150 semapv:UnspecifiedMatching DOID:0060234 Carpenter syndrome oboInOwl:hasDbXref GARD:6003 semapv:UnspecifiedMatching DOID:0060234 Carpenter syndrome oboInOwl:hasDbXref MESH:C563187 semapv:UnspecifiedMatching DOID:0060234 Carpenter syndrome oboInOwl:hasDbXref NCI:C98873 semapv:UnspecifiedMatching -DOID:0060234 Carpenter syndrome oboInOwl:hasDbXref OMIM:201000 semapv:UnspecifiedMatching -DOID:0060234 Carpenter syndrome oboInOwl:hasDbXref OMIM:614976 semapv:UnspecifiedMatching DOID:0060234 Carpenter syndrome oboInOwl:hasDbXref ORDO:65759 semapv:UnspecifiedMatching DOID:0060234 Carpenter syndrome oboInOwl:hasDbXref UMLS:C1275078 semapv:UnspecifiedMatching DOID:0060235 carnitine palmitoyltransferase II deficiency oboInOwl:hasDbXref MESH:C535589 semapv:UnspecifiedMatching DOID:0060235 carnitine palmitoyltransferase II deficiency oboInOwl:hasDbXref NCI:C114766 semapv:UnspecifiedMatching -DOID:0060235 carnitine palmitoyltransferase II deficiency oboInOwl:hasDbXref OMIM:255110 semapv:UnspecifiedMatching -DOID:0060235 carnitine palmitoyltransferase II deficiency oboInOwl:hasDbXref OMIM:600649 semapv:UnspecifiedMatching -DOID:0060235 carnitine palmitoyltransferase II deficiency oboInOwl:hasDbXref OMIM:608836 semapv:UnspecifiedMatching DOID:0060235 carnitine palmitoyltransferase II deficiency oboInOwl:hasDbXref ORDO:157 semapv:UnspecifiedMatching DOID:0060235 carnitine palmitoyltransferase II deficiency oboInOwl:hasDbXref UMLS:C0342790 semapv:UnspecifiedMatching DOID:0060236 xanthinuria oboInOwl:hasDbXref ICD10CM:E79.8 semapv:UnspecifiedMatching -DOID:0060236 xanthinuria oboInOwl:hasDbXref OMIMPS:278300 semapv:UnspecifiedMatching DOID:0060236 xanthinuria oboInOwl:hasDbXref ORDO:3467 semapv:UnspecifiedMatching DOID:0060236 xanthinuria oboInOwl:hasDbXref UMLS:C0220988 semapv:UnspecifiedMatching -DOID:0060236 xanthinuria skos:exactMatch OMIMPS:278300 semapv:UnspecifiedMatching DOID:0060237 Warburg micro syndrome oboInOwl:hasDbXref MESH:C536681 semapv:UnspecifiedMatching -DOID:0060237 Warburg micro syndrome oboInOwl:hasDbXref OMIMPS:600118 semapv:UnspecifiedMatching DOID:0060237 Warburg micro syndrome oboInOwl:hasDbXref ORDO:2510 semapv:UnspecifiedMatching DOID:0060237 Warburg micro syndrome oboInOwl:hasDbXref UMLS:C1838625 semapv:UnspecifiedMatching -DOID:0060237 Warburg micro syndrome skos:exactMatch OMIMPS:600118 semapv:UnspecifiedMatching DOID:0060238 Van Maldergem syndrome oboInOwl:hasDbXref GARD:5456 semapv:UnspecifiedMatching DOID:0060238 Van Maldergem syndrome oboInOwl:hasDbXref MESH:C536530 semapv:UnspecifiedMatching -DOID:0060238 Van Maldergem syndrome oboInOwl:hasDbXref OMIMPS:601390 semapv:UnspecifiedMatching DOID:0060238 Van Maldergem syndrome oboInOwl:hasDbXref ORDO:314679 semapv:UnspecifiedMatching DOID:0060238 Van Maldergem syndrome oboInOwl:hasDbXref UMLS:C1832390 semapv:UnspecifiedMatching -DOID:0060238 Van Maldergem syndrome skos:exactMatch OMIMPS:601390 semapv:UnspecifiedMatching DOID:0060239 Van der Woude syndrome oboInOwl:hasDbXref GARD:8414 semapv:UnspecifiedMatching DOID:0060239 Van der Woude syndrome oboInOwl:hasDbXref ICD10CM:Q38.0 semapv:UnspecifiedMatching DOID:0060239 Van der Woude syndrome oboInOwl:hasDbXref MESH:C536528 semapv:UnspecifiedMatching DOID:0060239 Van der Woude syndrome oboInOwl:hasDbXref MESH:C563529 semapv:UnspecifiedMatching DOID:0060239 Van der Woude syndrome oboInOwl:hasDbXref NCI:C74986 semapv:UnspecifiedMatching -DOID:0060239 Van der Woude syndrome oboInOwl:hasDbXref OMIM:119300 semapv:UnspecifiedMatching -DOID:0060239 Van der Woude syndrome oboInOwl:hasDbXref OMIM:606713 semapv:UnspecifiedMatching DOID:0060239 Van der Woude syndrome oboInOwl:hasDbXref ORDO:888 semapv:UnspecifiedMatching DOID:0060239 Van der Woude syndrome oboInOwl:hasDbXref UMLS:C0175697 semapv:UnspecifiedMatching DOID:0060239 Van der Woude syndrome oboInOwl:hasDbXref UMLS:C1834339 semapv:UnspecifiedMatching DOID:0060240 UV-sensitive syndrome oboInOwl:hasDbXref MESH:C563466 semapv:UnspecifiedMatching -DOID:0060240 UV-sensitive syndrome oboInOwl:hasDbXref OMIM:600630 semapv:UnspecifiedMatching -DOID:0060240 UV-sensitive syndrome oboInOwl:hasDbXref OMIM:614621 semapv:UnspecifiedMatching -DOID:0060240 UV-sensitive syndrome oboInOwl:hasDbXref OMIM:614640 semapv:UnspecifiedMatching -DOID:0060240 UV-sensitive syndrome oboInOwl:hasDbXref OMIMPS:600630 semapv:UnspecifiedMatching DOID:0060240 UV-sensitive syndrome oboInOwl:hasDbXref ORDO:178338 semapv:UnspecifiedMatching DOID:0060241 3-M syndrome oboInOwl:hasDbXref GARD:5667 semapv:UnspecifiedMatching DOID:0060241 3-M syndrome oboInOwl:hasDbXref MESH:C535314 semapv:UnspecifiedMatching -DOID:0060241 3-M syndrome oboInOwl:hasDbXref OMIM:273750 semapv:UnspecifiedMatching -DOID:0060241 3-M syndrome oboInOwl:hasDbXref OMIM:612921 semapv:UnspecifiedMatching -DOID:0060241 3-M syndrome oboInOwl:hasDbXref OMIM:614205 semapv:UnspecifiedMatching DOID:0060241 3-M syndrome oboInOwl:hasDbXref ORDO:2616 semapv:UnspecifiedMatching DOID:0060241 3-M syndrome oboInOwl:hasDbXref UMLS:C1848862 semapv:UnspecifiedMatching DOID:0060241 3-M syndrome oboInOwl:hasDbXref UMLS:C3280146 semapv:UnspecifiedMatching DOID:0060242 synpolydactyly oboInOwl:hasDbXref GARD:5087 semapv:UnspecifiedMatching DOID:0060242 synpolydactyly oboInOwl:hasDbXref MESH:C538153 semapv:UnspecifiedMatching DOID:0060242 synpolydactyly oboInOwl:hasDbXref NCI:C75003 semapv:UnspecifiedMatching -DOID:0060242 synpolydactyly oboInOwl:hasDbXref OMIM:186000 semapv:UnspecifiedMatching -DOID:0060242 synpolydactyly oboInOwl:hasDbXref OMIM:608180 semapv:UnspecifiedMatching -DOID:0060242 synpolydactyly oboInOwl:hasDbXref OMIM:610234 semapv:UnspecifiedMatching DOID:0060242 synpolydactyly oboInOwl:hasDbXref ORDO:295195 semapv:UnspecifiedMatching DOID:0060242 synpolydactyly oboInOwl:hasDbXref UMLS:C2699746 semapv:UnspecifiedMatching DOID:0060243 stuttering oboInOwl:hasDbXref ICD10CM:F80.81 semapv:UnspecifiedMatching DOID:0060243 stuttering oboInOwl:hasDbXref MESH:D013342 semapv:UnspecifiedMatching DOID:0060243 stuttering oboInOwl:hasDbXref NCI:C35043 semapv:UnspecifiedMatching -DOID:0060243 stuttering oboInOwl:hasDbXref OMIM:184450 semapv:UnspecifiedMatching -DOID:0060243 stuttering oboInOwl:hasDbXref OMIM:609261 semapv:UnspecifiedMatching -DOID:0060243 stuttering oboInOwl:hasDbXref OMIM:614655 semapv:UnspecifiedMatching -DOID:0060243 stuttering oboInOwl:hasDbXref OMIM:614668 semapv:UnspecifiedMatching DOID:0060243 stuttering oboInOwl:hasDbXref UMLS:C0038131 semapv:UnspecifiedMatching DOID:0060243 stuttering oboInOwl:hasDbXref UMLS:C0038506 semapv:UnspecifiedMatching DOID:0060243 stuttering oboInOwl:hasDbXref UMLS:C0454542 semapv:UnspecifiedMatching @@ -2231,36 +1411,23 @@ DOID:0060243 stuttering oboInOwl:hasDbXref UMLS:C0751527 semapv:UnspecifiedMatch DOID:0060243 stuttering oboInOwl:hasDbXref UMLS:C0751528 semapv:UnspecifiedMatching DOID:0060243 stuttering oboInOwl:hasDbXref UMLS:C0751529 semapv:UnspecifiedMatching DOID:0060243 stuttering oboInOwl:hasDbXref UMLS:C3489627 semapv:UnspecifiedMatching -DOID:0060244 specific language impairment oboInOwl:hasDbXref OMIM:606711 semapv:UnspecifiedMatching -DOID:0060244 specific language impairment oboInOwl:hasDbXref OMIM:606712 semapv:UnspecifiedMatching -DOID:0060244 specific language impairment oboInOwl:hasDbXref OMIM:607134 semapv:UnspecifiedMatching -DOID:0060244 specific language impairment oboInOwl:hasDbXref OMIM:612514 semapv:UnspecifiedMatching -DOID:0060244 specific language impairment oboInOwl:hasDbXref OMIM:615432 semapv:UnspecifiedMatching DOID:0060245 Mast syndrome oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching DOID:0060245 Mast syndrome oboInOwl:hasDbXref MESH:C565409 semapv:UnspecifiedMatching -DOID:0060245 Mast syndrome oboInOwl:hasDbXref OMIM:248900 semapv:UnspecifiedMatching DOID:0060245 Mast syndrome oboInOwl:hasDbXref ORDO:101001 semapv:UnspecifiedMatching -DOID:0060245 Mast syndrome skos:exactMatch OMIM:248900 semapv:UnspecifiedMatching DOID:0060246 MASA syndrome oboInOwl:hasDbXref GARD:6986 semapv:UnspecifiedMatching DOID:0060246 MASA syndrome oboInOwl:hasDbXref MESH:C536029 semapv:UnspecifiedMatching DOID:0060246 MASA syndrome oboInOwl:hasDbXref NCI:C129930 semapv:UnspecifiedMatching -DOID:0060246 MASA syndrome oboInOwl:hasDbXref OMIM:303350 semapv:UnspecifiedMatching DOID:0060246 MASA syndrome oboInOwl:hasDbXref ORDO:2466 semapv:UnspecifiedMatching DOID:0060246 MASA syndrome oboInOwl:hasDbXref UMLS:C0795953 semapv:UnspecifiedMatching -DOID:0060246 MASA syndrome skos:exactMatch OMIM:303350 semapv:UnspecifiedMatching DOID:0060247 Smith-McCort dysplasia oboInOwl:hasDbXref GARD:10620 semapv:UnspecifiedMatching DOID:0060247 Smith-McCort dysplasia oboInOwl:hasDbXref MESH:C564589 semapv:UnspecifiedMatching -DOID:0060247 Smith-McCort dysplasia oboInOwl:hasDbXref OMIMPS:607326 semapv:UnspecifiedMatching DOID:0060247 Smith-McCort dysplasia oboInOwl:hasDbXref ORDO:178355 semapv:UnspecifiedMatching DOID:0060247 Smith-McCort dysplasia oboInOwl:hasDbXref UMLS:C1846431 semapv:UnspecifiedMatching -DOID:0060247 Smith-McCort dysplasia skos:exactMatch OMIMPS:607326 semapv:UnspecifiedMatching DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 oboInOwl:hasDbXref GARD:7649 semapv:UnspecifiedMatching DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 oboInOwl:hasDbXref MESH:C537340 semapv:UnspecifiedMatching DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 oboInOwl:hasDbXref NCI:C118787 semapv:UnspecifiedMatching -DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 oboInOwl:hasDbXref OMIM:312870 semapv:UnspecifiedMatching DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 oboInOwl:hasDbXref ORDO:373 semapv:UnspecifiedMatching DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 oboInOwl:hasDbXref UMLS:C0796154 semapv:UnspecifiedMatching -DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 skos:exactMatch OMIM:312870 semapv:UnspecifiedMatching DOID:0060249 scoliosis oboInOwl:hasDbXref ICD10CM:M41.9 semapv:UnspecifiedMatching DOID:0060249 scoliosis oboInOwl:hasDbXref MESH:D012600 semapv:UnspecifiedMatching DOID:0060249 scoliosis oboInOwl:hasDbXref NCI:C78603 semapv:UnspecifiedMatching @@ -2270,54 +1437,34 @@ DOID:0060250 idiopathic scoliosis oboInOwl:hasDbXref GARD:552 semapv:Unspecified DOID:0060251 sclerosteosis oboInOwl:hasDbXref GARD:4771 semapv:UnspecifiedMatching DOID:0060251 sclerosteosis oboInOwl:hasDbXref MESH:C537525 semapv:UnspecifiedMatching DOID:0060251 sclerosteosis oboInOwl:hasDbXref NCI:C131133 semapv:UnspecifiedMatching -DOID:0060251 sclerosteosis oboInOwl:hasDbXref OMIMPS:269500 semapv:UnspecifiedMatching DOID:0060251 sclerosteosis oboInOwl:hasDbXref ORDO:3152 semapv:UnspecifiedMatching DOID:0060251 sclerosteosis oboInOwl:hasDbXref UMLS:C0265301 semapv:UnspecifiedMatching -DOID:0060251 sclerosteosis skos:exactMatch OMIMPS:269500 semapv:UnspecifiedMatching DOID:0060252 sclerocornea oboInOwl:hasDbXref MESH:C565209 semapv:UnspecifiedMatching -DOID:0060252 sclerocornea oboInOwl:hasDbXref OMIM:181700 semapv:UnspecifiedMatching DOID:0060252 sclerocornea oboInOwl:hasDbXref ORDO:91490 semapv:UnspecifiedMatching DOID:0060252 sclerocornea oboInOwl:hasDbXref UMLS:C1853235 semapv:UnspecifiedMatching -DOID:0060252 sclerocornea skos:exactMatch OMIM:181700 semapv:UnspecifiedMatching DOID:0060253 scapuloperoneal myopathy oboInOwl:hasDbXref MESH:C536624 semapv:UnspecifiedMatching -DOID:0060253 scapuloperoneal myopathy oboInOwl:hasDbXref OMIM:300695 semapv:UnspecifiedMatching -DOID:0060253 scapuloperoneal myopathy skos:exactMatch OMIM:300695 semapv:UnspecifiedMatching DOID:0060254 Robinow syndrome oboInOwl:hasDbXref GARD:312 semapv:UnspecifiedMatching DOID:0060254 Robinow syndrome oboInOwl:hasDbXref ICD10CM:Q87.19 semapv:UnspecifiedMatching DOID:0060254 Robinow syndrome oboInOwl:hasDbXref MESH:C562492 semapv:UnspecifiedMatching DOID:0060254 Robinow syndrome oboInOwl:hasDbXref NCI:C85048 semapv:UnspecifiedMatching -DOID:0060254 Robinow syndrome oboInOwl:hasDbXref OMIMPS:268310 semapv:UnspecifiedMatching DOID:0060254 Robinow syndrome oboInOwl:hasDbXref ORDO:97360 semapv:UnspecifiedMatching DOID:0060254 Robinow syndrome oboInOwl:hasDbXref UMLS:C0265205 semapv:UnspecifiedMatching -DOID:0060254 Robinow syndrome skos:exactMatch OMIMPS:268310 semapv:UnspecifiedMatching DOID:0060255 rippling muscle disease 2 oboInOwl:hasDbXref GARD:9164 semapv:UnspecifiedMatching -DOID:0060255 rippling muscle disease 2 oboInOwl:hasDbXref OMIM:606072 semapv:UnspecifiedMatching DOID:0060255 rippling muscle disease 2 oboInOwl:hasDbXref ORDO:265 semapv:UnspecifiedMatching DOID:0060255 rippling muscle disease 2 oboInOwl:hasDbXref ORDO:97238 semapv:UnspecifiedMatching DOID:0060255 rippling muscle disease 2 oboInOwl:hasDbXref UMLS:C1853698 semapv:UnspecifiedMatching -DOID:0060255 rippling muscle disease 2 skos:exactMatch OMIM:606072 semapv:UnspecifiedMatching DOID:0060256 Dowling-Degos disease oboInOwl:hasDbXref GARD:9775 semapv:UnspecifiedMatching DOID:0060256 Dowling-Degos disease oboInOwl:hasDbXref MESH:C562924 semapv:UnspecifiedMatching -DOID:0060256 Dowling-Degos disease oboInOwl:hasDbXref OMIM:179850 semapv:UnspecifiedMatching -DOID:0060256 Dowling-Degos disease oboInOwl:hasDbXref OMIM:615327 semapv:UnspecifiedMatching -DOID:0060256 Dowling-Degos disease oboInOwl:hasDbXref OMIM:615674 semapv:UnspecifiedMatching -DOID:0060256 Dowling-Degos disease oboInOwl:hasDbXref OMIM:615696 semapv:UnspecifiedMatching DOID:0060256 Dowling-Degos disease oboInOwl:hasDbXref ORDO:79145 semapv:UnspecifiedMatching DOID:0060256 Dowling-Degos disease oboInOwl:hasDbXref UMLS:C0406811 semapv:UnspecifiedMatching DOID:0060256 Dowling-Degos disease oboInOwl:hasDbXref UMLS:C3714534 semapv:UnspecifiedMatching DOID:0060257 dyschromatosis symmetrica hereditaria oboInOwl:hasDbXref MESH:C535729 semapv:UnspecifiedMatching DOID:0060257 dyschromatosis symmetrica hereditaria oboInOwl:hasDbXref NCI:C118435 semapv:UnspecifiedMatching -DOID:0060257 dyschromatosis symmetrica hereditaria oboInOwl:hasDbXref OMIM:127400 semapv:UnspecifiedMatching DOID:0060257 dyschromatosis symmetrica hereditaria oboInOwl:hasDbXref ORDO:41 semapv:UnspecifiedMatching DOID:0060257 dyschromatosis symmetrica hereditaria oboInOwl:hasDbXref UMLS:C0406775 semapv:UnspecifiedMatching -DOID:0060257 dyschromatosis symmetrica hereditaria skos:exactMatch OMIM:127400 semapv:UnspecifiedMatching -DOID:0060258 reticulate acropigmentation of Kitamura oboInOwl:hasDbXref OMIM:615537 semapv:UnspecifiedMatching DOID:0060258 reticulate acropigmentation of Kitamura oboInOwl:hasDbXref ORDO:178307 semapv:UnspecifiedMatching DOID:0060258 reticulate acropigmentation of Kitamura oboInOwl:hasDbXref UMLS:C0406811 semapv:UnspecifiedMatching -DOID:0060258 reticulate acropigmentation of Kitamura skos:exactMatch OMIM:615537 semapv:UnspecifiedMatching DOID:0060259 renal-hepatic-pancreatic dysplasia oboInOwl:hasDbXref MESH:C567142 semapv:UnspecifiedMatching -DOID:0060259 renal-hepatic-pancreatic dysplasia oboInOwl:hasDbXref OMIM:208540 semapv:UnspecifiedMatching -DOID:0060259 renal-hepatic-pancreatic dysplasia oboInOwl:hasDbXref OMIM:615415 semapv:UnspecifiedMatching DOID:0060259 renal-hepatic-pancreatic dysplasia oboInOwl:hasDbXref ORDO:294415 semapv:UnspecifiedMatching DOID:0060260 ptosis oboInOwl:hasDbXref ICD10CM:H02.4 semapv:UnspecifiedMatching DOID:0060260 ptosis oboInOwl:hasDbXref ICD9CM:374.3 semapv:UnspecifiedMatching @@ -2327,16 +1474,11 @@ DOID:0060260 ptosis oboInOwl:hasDbXref UMLS:C0005745 semapv:UnspecifiedMatching DOID:0060261 congenital ptosis oboInOwl:hasDbXref ICD10CM:Q10.0 semapv:UnspecifiedMatching DOID:0060261 congenital ptosis oboInOwl:hasDbXref ICD9CM:743.61 semapv:UnspecifiedMatching DOID:0060261 congenital ptosis oboInOwl:hasDbXref NCI:C27049 semapv:UnspecifiedMatching -DOID:0060261 congenital ptosis oboInOwl:hasDbXref OMIM:178300 semapv:UnspecifiedMatching -DOID:0060261 congenital ptosis oboInOwl:hasDbXref OMIM:300245 semapv:UnspecifiedMatching DOID:0060261 congenital ptosis oboInOwl:hasDbXref UMLS:C0266573 semapv:UnspecifiedMatching DOID:0060262 gallbladder disease oboInOwl:hasDbXref ICD10CM:K82.9 semapv:UnspecifiedMatching DOID:0060262 gallbladder disease oboInOwl:hasDbXref ICD9CM:575.9 semapv:UnspecifiedMatching DOID:0060262 gallbladder disease oboInOwl:hasDbXref MESH:D005705 semapv:UnspecifiedMatching DOID:0060262 gallbladder disease oboInOwl:hasDbXref NCI:C34631 semapv:UnspecifiedMatching -DOID:0060262 gallbladder disease oboInOwl:hasDbXref OMIM:609918 semapv:UnspecifiedMatching -DOID:0060262 gallbladder disease oboInOwl:hasDbXref OMIM:609919 semapv:UnspecifiedMatching -DOID:0060262 gallbladder disease oboInOwl:hasDbXref OMIM:611465 semapv:UnspecifiedMatching DOID:0060262 gallbladder disease oboInOwl:hasDbXref UMLS:C0016977 semapv:UnspecifiedMatching DOID:0060263 porencephaly oboInOwl:hasDbXref GARD:7430 semapv:UnspecifiedMatching DOID:0060263 porencephaly oboInOwl:hasDbXref ICD10CM:Q04.6 semapv:UnspecifiedMatching @@ -2347,108 +1489,64 @@ DOID:0060263 porencephaly oboInOwl:hasDbXref UMLS:C1867983 semapv:UnspecifiedMat DOID:0060263 porencephaly oboInOwl:hasDbXref UMLS:C3698507 semapv:UnspecifiedMatching DOID:0060264 pontocerebellar hypoplasia oboInOwl:hasDbXref GARD:10977 semapv:UnspecifiedMatching DOID:0060264 pontocerebellar hypoplasia oboInOwl:hasDbXref MESH:C580383 semapv:UnspecifiedMatching -DOID:0060264 pontocerebellar hypoplasia oboInOwl:hasDbXref OMIMPS:607596 semapv:UnspecifiedMatching DOID:0060264 pontocerebellar hypoplasia oboInOwl:hasDbXref UMLS:C0266468 semapv:UnspecifiedMatching -DOID:0060264 pontocerebellar hypoplasia skos:exactMatch OMIMPS:607596 semapv:UnspecifiedMatching -DOID:0060265 pontocerebellar hypoplasia type 1A oboInOwl:hasDbXref OMIM:607596 semapv:UnspecifiedMatching DOID:0060265 pontocerebellar hypoplasia type 1A oboInOwl:hasDbXref ORDO:2254 semapv:UnspecifiedMatching -DOID:0060265 pontocerebellar hypoplasia type 1A skos:exactMatch OMIM:607596 semapv:UnspecifiedMatching -DOID:0060266 pontocerebellar hypoplasia type 1B oboInOwl:hasDbXref OMIM:614678 semapv:UnspecifiedMatching DOID:0060266 pontocerebellar hypoplasia type 1B oboInOwl:hasDbXref ORDO:2254 semapv:UnspecifiedMatching -DOID:0060266 pontocerebellar hypoplasia type 1B skos:exactMatch OMIM:614678 semapv:UnspecifiedMatching DOID:0060267 pontocerebellar hypoplasia type 2A oboInOwl:hasDbXref GARD:10705 semapv:UnspecifiedMatching DOID:0060267 pontocerebellar hypoplasia type 2A oboInOwl:hasDbXref GARD:3631 semapv:UnspecifiedMatching DOID:0060267 pontocerebellar hypoplasia type 2A oboInOwl:hasDbXref MESH:C564738 semapv:UnspecifiedMatching -DOID:0060267 pontocerebellar hypoplasia type 2A oboInOwl:hasDbXref OMIM:277470 semapv:UnspecifiedMatching DOID:0060267 pontocerebellar hypoplasia type 2A oboInOwl:hasDbXref ORDO:2524 semapv:UnspecifiedMatching DOID:0060267 pontocerebellar hypoplasia type 2A oboInOwl:hasDbXref UMLS:C1848526 semapv:UnspecifiedMatching -DOID:0060267 pontocerebellar hypoplasia type 2A skos:exactMatch OMIM:277470 semapv:UnspecifiedMatching DOID:0060268 pontocerebellar hypoplasia type 2B oboInOwl:hasDbXref MESH:C567325 semapv:UnspecifiedMatching -DOID:0060268 pontocerebellar hypoplasia type 2B oboInOwl:hasDbXref OMIM:612389 semapv:UnspecifiedMatching DOID:0060268 pontocerebellar hypoplasia type 2B oboInOwl:hasDbXref ORDO:2524 semapv:UnspecifiedMatching DOID:0060268 pontocerebellar hypoplasia type 2B oboInOwl:hasDbXref UMLS:C2676466 semapv:UnspecifiedMatching -DOID:0060268 pontocerebellar hypoplasia type 2B skos:exactMatch OMIM:612389 semapv:UnspecifiedMatching DOID:0060269 pontocerebellar hypoplasia type 2C oboInOwl:hasDbXref MESH:C567324 semapv:UnspecifiedMatching -DOID:0060269 pontocerebellar hypoplasia type 2C oboInOwl:hasDbXref OMIM:612390 semapv:UnspecifiedMatching DOID:0060269 pontocerebellar hypoplasia type 2C oboInOwl:hasDbXref ORDO:2524 semapv:UnspecifiedMatching DOID:0060269 pontocerebellar hypoplasia type 2C oboInOwl:hasDbXref UMLS:C2676465 semapv:UnspecifiedMatching -DOID:0060269 pontocerebellar hypoplasia type 2C skos:exactMatch OMIM:612390 semapv:UnspecifiedMatching DOID:0060270 pontocerebellar hypoplasia type 2D oboInOwl:hasDbXref ICD10CM:Q04.3 semapv:UnspecifiedMatching -DOID:0060270 pontocerebellar hypoplasia type 2D oboInOwl:hasDbXref OMIM:613811 semapv:UnspecifiedMatching DOID:0060270 pontocerebellar hypoplasia type 2D oboInOwl:hasDbXref ORDO:2524 semapv:UnspecifiedMatching -DOID:0060270 pontocerebellar hypoplasia type 2D skos:exactMatch OMIM:613811 semapv:UnspecifiedMatching -DOID:0060271 pontocerebellar hypoplasia type 2E oboInOwl:hasDbXref OMIM:615851 semapv:UnspecifiedMatching -DOID:0060271 pontocerebellar hypoplasia type 2E skos:exactMatch OMIM:615851 semapv:UnspecifiedMatching DOID:0060272 pontocerebellar hypoplasia type 3 oboInOwl:hasDbXref GARD:10708 semapv:UnspecifiedMatching DOID:0060272 pontocerebellar hypoplasia type 3 oboInOwl:hasDbXref MESH:C548072 semapv:UnspecifiedMatching -DOID:0060272 pontocerebellar hypoplasia type 3 oboInOwl:hasDbXref OMIM:608027 semapv:UnspecifiedMatching DOID:0060272 pontocerebellar hypoplasia type 3 oboInOwl:hasDbXref ORDO:97249 semapv:UnspecifiedMatching DOID:0060272 pontocerebellar hypoplasia type 3 oboInOwl:hasDbXref UMLS:C1842687 semapv:UnspecifiedMatching -DOID:0060272 pontocerebellar hypoplasia type 3 skos:exactMatch OMIM:608027 semapv:UnspecifiedMatching DOID:0060273 pontocerebellar hypoplasia type 4 oboInOwl:hasDbXref GARD:343 semapv:UnspecifiedMatching DOID:0060273 pontocerebellar hypoplasia type 4 oboInOwl:hasDbXref MESH:C536716 semapv:UnspecifiedMatching -DOID:0060273 pontocerebellar hypoplasia type 4 oboInOwl:hasDbXref OMIM:225753 semapv:UnspecifiedMatching DOID:0060273 pontocerebellar hypoplasia type 4 oboInOwl:hasDbXref ORDO:166063 semapv:UnspecifiedMatching DOID:0060273 pontocerebellar hypoplasia type 4 oboInOwl:hasDbXref UMLS:C1856974 semapv:UnspecifiedMatching -DOID:0060273 pontocerebellar hypoplasia type 4 skos:exactMatch OMIM:225753 semapv:UnspecifiedMatching DOID:0060274 pontocerebellar hypoplasia type 5 oboInOwl:hasDbXref GARD:10709 semapv:UnspecifiedMatching DOID:0060274 pontocerebellar hypoplasia type 5 oboInOwl:hasDbXref MESH:C537745 semapv:UnspecifiedMatching -DOID:0060274 pontocerebellar hypoplasia type 5 oboInOwl:hasDbXref OMIM:610204 semapv:UnspecifiedMatching DOID:0060274 pontocerebellar hypoplasia type 5 oboInOwl:hasDbXref ORDO:166068 semapv:UnspecifiedMatching DOID:0060274 pontocerebellar hypoplasia type 5 oboInOwl:hasDbXref UMLS:C1857762 semapv:UnspecifiedMatching -DOID:0060274 pontocerebellar hypoplasia type 5 skos:exactMatch OMIM:610204 semapv:UnspecifiedMatching DOID:0060275 pontocerebellar hypoplasia type 6 oboInOwl:hasDbXref GARD:10710 semapv:UnspecifiedMatching DOID:0060275 pontocerebellar hypoplasia type 6 oboInOwl:hasDbXref MESH:C548074 semapv:UnspecifiedMatching -DOID:0060275 pontocerebellar hypoplasia type 6 oboInOwl:hasDbXref OMIM:611523 semapv:UnspecifiedMatching DOID:0060275 pontocerebellar hypoplasia type 6 oboInOwl:hasDbXref ORDO:166073 semapv:UnspecifiedMatching DOID:0060275 pontocerebellar hypoplasia type 6 oboInOwl:hasDbXref UMLS:C1969084 semapv:UnspecifiedMatching -DOID:0060275 pontocerebellar hypoplasia type 6 skos:exactMatch OMIM:611523 semapv:UnspecifiedMatching DOID:0060276 pontocerebellar hypoplasia type 7 oboInOwl:hasDbXref ICD10CM:Q04.3 semapv:UnspecifiedMatching -DOID:0060276 pontocerebellar hypoplasia type 7 oboInOwl:hasDbXref OMIM:614969 semapv:UnspecifiedMatching DOID:0060276 pontocerebellar hypoplasia type 7 oboInOwl:hasDbXref ORDO:284339 semapv:UnspecifiedMatching -DOID:0060276 pontocerebellar hypoplasia type 7 skos:exactMatch OMIM:614969 semapv:UnspecifiedMatching DOID:0060277 pontocerebellar hypoplasia type 8 oboInOwl:hasDbXref ICD10CM:Q04.3 semapv:UnspecifiedMatching -DOID:0060277 pontocerebellar hypoplasia type 8 oboInOwl:hasDbXref OMIM:614961 semapv:UnspecifiedMatching DOID:0060277 pontocerebellar hypoplasia type 8 oboInOwl:hasDbXref ORDO:324569 semapv:UnspecifiedMatching -DOID:0060277 pontocerebellar hypoplasia type 8 skos:exactMatch OMIM:614961 semapv:UnspecifiedMatching DOID:0060278 pontocerebellar hypoplasia type 9 oboInOwl:hasDbXref ICD10CM:Q04.3 semapv:UnspecifiedMatching -DOID:0060278 pontocerebellar hypoplasia type 9 oboInOwl:hasDbXref OMIM:615809 semapv:UnspecifiedMatching DOID:0060278 pontocerebellar hypoplasia type 9 oboInOwl:hasDbXref ORDO:369920 semapv:UnspecifiedMatching -DOID:0060278 pontocerebellar hypoplasia type 9 skos:exactMatch OMIM:615809 semapv:UnspecifiedMatching -DOID:0060279 pontocerebellar hypoplasia type 10 oboInOwl:hasDbXref OMIM:615803 semapv:UnspecifiedMatching DOID:0060279 pontocerebellar hypoplasia type 10 oboInOwl:hasDbXref ORDO:411493 semapv:UnspecifiedMatching -DOID:0060279 pontocerebellar hypoplasia type 10 skos:exactMatch OMIM:615803 semapv:UnspecifiedMatching DOID:0060280 primary pigmented nodular adrenocortical disease oboInOwl:hasDbXref GARD:10906 semapv:UnspecifiedMatching DOID:0060280 primary pigmented nodular adrenocortical disease oboInOwl:hasDbXref MESH:C566469 semapv:UnspecifiedMatching DOID:0060280 primary pigmented nodular adrenocortical disease oboInOwl:hasDbXref MESH:C566472 semapv:UnspecifiedMatching -DOID:0060280 primary pigmented nodular adrenocortical disease oboInOwl:hasDbXref OMIM:610475 semapv:UnspecifiedMatching -DOID:0060280 primary pigmented nodular adrenocortical disease oboInOwl:hasDbXref OMIM:610489 semapv:UnspecifiedMatching -DOID:0060280 primary pigmented nodular adrenocortical disease oboInOwl:hasDbXref OMIM:614190 semapv:UnspecifiedMatching -DOID:0060280 primary pigmented nodular adrenocortical disease oboInOwl:hasDbXref OMIM:615830 semapv:UnspecifiedMatching DOID:0060280 primary pigmented nodular adrenocortical disease oboInOwl:hasDbXref ORDO:189439 semapv:UnspecifiedMatching DOID:0060280 primary pigmented nodular adrenocortical disease oboInOwl:hasDbXref UMLS:C1864846 semapv:UnspecifiedMatching DOID:0060280 primary pigmented nodular adrenocortical disease oboInOwl:hasDbXref UMLS:C1864851 semapv:UnspecifiedMatching DOID:0060281 photosensitive epilepsy oboInOwl:hasDbXref GARD:5648 semapv:UnspecifiedMatching DOID:0060281 photosensitive epilepsy oboInOwl:hasDbXref ICD10CM:G40.8 semapv:UnspecifiedMatching -DOID:0060281 photosensitive epilepsy oboInOwl:hasDbXref OMIM:132100 semapv:UnspecifiedMatching -DOID:0060281 photosensitive epilepsy oboInOwl:hasDbXref OMIM:609572 semapv:UnspecifiedMatching -DOID:0060281 photosensitive epilepsy oboInOwl:hasDbXref OMIM:609573 semapv:UnspecifiedMatching DOID:0060281 photosensitive epilepsy oboInOwl:hasDbXref ORDO:166409 semapv:UnspecifiedMatching DOID:0060282 persistent hyperplastic primary vitreous oboInOwl:hasDbXref MESH:D054514 semapv:UnspecifiedMatching DOID:0060282 persistent hyperplastic primary vitreous oboInOwl:hasDbXref NCI:C161554 semapv:UnspecifiedMatching -DOID:0060282 persistent hyperplastic primary vitreous oboInOwl:hasDbXref OMIM:221900 semapv:UnspecifiedMatching -DOID:0060282 persistent hyperplastic primary vitreous oboInOwl:hasDbXref OMIM:611308 semapv:UnspecifiedMatching DOID:0060282 persistent hyperplastic primary vitreous oboInOwl:hasDbXref ORDO:91495 semapv:UnspecifiedMatching DOID:0060282 persistent hyperplastic primary vitreous oboInOwl:hasDbXref UMLS:C0266568 semapv:UnspecifiedMatching DOID:0060283 peeling skin syndrome oboInOwl:hasDbXref GARD:7347 semapv:UnspecifiedMatching DOID:0060283 peeling skin syndrome oboInOwl:hasDbXref MESH:C564818 semapv:UnspecifiedMatching -DOID:0060283 peeling skin syndrome oboInOwl:hasDbXref OMIMPS:270300 semapv:UnspecifiedMatching DOID:0060283 peeling skin syndrome oboInOwl:hasDbXref ORDO:817 semapv:UnspecifiedMatching DOID:0060283 peeling skin syndrome oboInOwl:hasDbXref UMLS:C1849193 semapv:UnspecifiedMatching DOID:0060283 peeling skin syndrome skos:broadMatch ICD10CM:Q80.8 semapv:UnspecifiedMatching DOID:0060283 peeling skin syndrome skos:exactMatch GARD:7347 semapv:UnspecifiedMatching -DOID:0060283 peeling skin syndrome skos:exactMatch OMIM:PS270300 semapv:UnspecifiedMatching -DOID:0060283 peeling skin syndrome skos:exactMatch OMIMPS:270300 semapv:UnspecifiedMatching DOID:0060283 peeling skin syndrome skos:exactMatch ORDO:817 semapv:UnspecifiedMatching DOID:0060283 peeling skin syndrome skos:exactMatch SNOMEDCT_US_2020_03_01:724838009 semapv:UnspecifiedMatching DOID:0060283 peeling skin syndrome skos:exactMatch UMLS:C1849193 semapv:UnspecifiedMatching @@ -2457,129 +1555,74 @@ DOID:0060284 paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref ICD10CM:D59. DOID:0060284 paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref ICD10CM:D59.6 semapv:UnspecifiedMatching DOID:0060284 paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref MESH:D006457 semapv:UnspecifiedMatching DOID:0060284 paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref NCI:C61233 semapv:UnspecifiedMatching -DOID:0060284 paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref OMIM:300818 semapv:UnspecifiedMatching -DOID:0060284 paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref OMIM:615399 semapv:UnspecifiedMatching DOID:0060284 paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref ORDO:447 semapv:UnspecifiedMatching DOID:0060284 paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref UMLS:C0019050 semapv:UnspecifiedMatching DOID:0060284 paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref UMLS:C0024790 semapv:UnspecifiedMatching DOID:0060284 paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref UMLS:C0086774 semapv:UnspecifiedMatching DOID:0060285 parietal foramina oboInOwl:hasDbXref MESH:C566826 semapv:UnspecifiedMatching -DOID:0060285 parietal foramina oboInOwl:hasDbXref OMIM:168500 semapv:UnspecifiedMatching -DOID:0060285 parietal foramina oboInOwl:hasDbXref OMIM:609566 semapv:UnspecifiedMatching -DOID:0060285 parietal foramina oboInOwl:hasDbXref OMIM:609597 semapv:UnspecifiedMatching DOID:0060285 parietal foramina oboInOwl:hasDbXref ORDO:60015 semapv:UnspecifiedMatching DOID:0060285 parietal foramina oboInOwl:hasDbXref UMLS:C1868598 semapv:UnspecifiedMatching DOID:0060286 combined oxidative phosphorylation deficiency oboInOwl:hasDbXref GARD:12893 semapv:UnspecifiedMatching -DOID:0060286 combined oxidative phosphorylation deficiency oboInOwl:hasDbXref OMIMPS:609060 semapv:UnspecifiedMatching -DOID:0060286 combined oxidative phosphorylation deficiency skos:exactMatch OMIMPS:609060 semapv:UnspecifiedMatching DOID:0060287 cornea plana oboInOwl:hasDbXref ICD10CM:Q13.4 semapv:UnspecifiedMatching -DOID:0060287 cornea plana oboInOwl:hasDbXref OMIM:121400 semapv:UnspecifiedMatching -DOID:0060287 cornea plana oboInOwl:hasDbXref OMIM:217300 semapv:UnspecifiedMatching DOID:0060287 cornea plana oboInOwl:hasDbXref ORDO:53691 semapv:UnspecifiedMatching -DOID:0060288 omodysplasia oboInOwl:hasDbXref OMIMPS:258315 semapv:UnspecifiedMatching 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 DOID:0060289 Ohdo syndrome oboInOwl:hasDbXref ORDO:2728 semapv:UnspecifiedMatching DOID:0060289 Ohdo syndrome oboInOwl:hasDbXref UMLS:C0796094 semapv:UnspecifiedMatching DOID:0060290 Ohdo syndrome, SBBYS variant oboInOwl:hasDbXref MESH:C536717 semapv:UnspecifiedMatching -DOID:0060290 Ohdo syndrome, SBBYS variant oboInOwl:hasDbXref OMIM:603736 semapv:UnspecifiedMatching DOID:0060290 Ohdo syndrome, SBBYS variant oboInOwl:hasDbXref ORDO:3047 semapv:UnspecifiedMatching DOID:0060290 Ohdo syndrome, SBBYS variant oboInOwl:hasDbXref UMLS:C1863557 semapv:UnspecifiedMatching -DOID:0060290 Ohdo syndrome, SBBYS variant skos:exactMatch OMIM:603736 semapv:UnspecifiedMatching DOID:0060291 oculodentodigital dysplasia oboInOwl:hasDbXref GARD:7239 semapv:UnspecifiedMatching DOID:0060291 oculodentodigital dysplasia oboInOwl:hasDbXref MESH:C563160 semapv:UnspecifiedMatching -DOID:0060291 oculodentodigital dysplasia oboInOwl:hasDbXref OMIM:164200 semapv:UnspecifiedMatching -DOID:0060291 oculodentodigital dysplasia oboInOwl:hasDbXref OMIM:257850 semapv:UnspecifiedMatching DOID:0060291 oculodentodigital dysplasia oboInOwl:hasDbXref ORDO:2710 semapv:UnspecifiedMatching DOID:0060291 oculodentodigital dysplasia oboInOwl:hasDbXref UMLS:C0812437 semapv:UnspecifiedMatching DOID:0060292 X-linked chondrodysplasia punctata 1 oboInOwl:hasDbXref ICD10CM:Q77.3 semapv:UnspecifiedMatching DOID:0060292 X-linked chondrodysplasia punctata 1 oboInOwl:hasDbXref MESH:C580533 semapv:UnspecifiedMatching -DOID:0060292 X-linked chondrodysplasia punctata 1 oboInOwl:hasDbXref OMIM:302950 semapv:UnspecifiedMatching DOID:0060292 X-linked chondrodysplasia punctata 1 oboInOwl:hasDbXref ORDO:35173 semapv:UnspecifiedMatching -DOID:0060292 X-linked chondrodysplasia punctata 1 skos:exactMatch OMIM:302950 semapv:UnspecifiedMatching DOID:0060293 autosomal dominant chondrodysplasia punctata oboInOwl:hasDbXref ICD10CM:Q77.3 semapv:UnspecifiedMatching -DOID:0060293 autosomal dominant chondrodysplasia punctata oboInOwl:hasDbXref OMIM:118650 semapv:UnspecifiedMatching -DOID:0060293 autosomal dominant chondrodysplasia punctata oboInOwl:hasDbXref OMIM:118651 semapv:UnspecifiedMatching -DOID:0060293 autosomal dominant chondrodysplasia punctata oboInOwl:hasDbXref OMIM:602497 semapv:UnspecifiedMatching DOID:0060293 autosomal dominant chondrodysplasia punctata oboInOwl:hasDbXref ORDO:79344 semapv:UnspecifiedMatching DOID:0060294 cold-induced sweating syndrome oboInOwl:hasDbXref MESH:C536214 semapv:UnspecifiedMatching -DOID:0060294 cold-induced sweating syndrome oboInOwl:hasDbXref OMIMPS:272430 semapv:UnspecifiedMatching DOID:0060294 cold-induced sweating syndrome oboInOwl:hasDbXref ORDO:157820 semapv:UnspecifiedMatching DOID:0060294 cold-induced sweating syndrome oboInOwl:hasDbXref UMLS:C1832409 semapv:UnspecifiedMatching -DOID:0060294 cold-induced sweating syndrome skos:exactMatch OMIMPS:272430 semapv:UnspecifiedMatching DOID:0060295 complement component 2 deficiency oboInOwl:hasDbXref GARD:1452 semapv:UnspecifiedMatching DOID:0060295 complement component 2 deficiency oboInOwl:hasDbXref ICD10CM:D84.1 semapv:UnspecifiedMatching -DOID:0060295 complement component 2 deficiency oboInOwl:hasDbXref OMIM:217000 semapv:UnspecifiedMatching DOID:0060295 complement component 2 deficiency oboInOwl:hasDbXref ORDO:169147 semapv:UnspecifiedMatching -DOID:0060295 complement component 2 deficiency skos:exactMatch OMIM:217000 semapv:UnspecifiedMatching DOID:0060296 congenital secretory chloride diarrhea 1 oboInOwl:hasDbXref MESH:C536210 semapv:UnspecifiedMatching -DOID:0060296 congenital secretory chloride diarrhea 1 oboInOwl:hasDbXref OMIM:214700 semapv:UnspecifiedMatching DOID:0060296 congenital secretory chloride diarrhea 1 oboInOwl:hasDbXref ORDO:53689 semapv:UnspecifiedMatching DOID:0060296 congenital secretory chloride diarrhea 1 oboInOwl:hasDbXref UMLS:C0267662 semapv:UnspecifiedMatching -DOID:0060296 congenital secretory chloride diarrhea 1 skos:exactMatch OMIM:214700 semapv:UnspecifiedMatching DOID:0060297 complement component 4a deficiency oboInOwl:hasDbXref ICD10CM:D84.1 semapv:UnspecifiedMatching DOID:0060297 complement component 4a deficiency oboInOwl:hasDbXref MESH:C565167 semapv:UnspecifiedMatching -DOID:0060297 complement component 4a deficiency oboInOwl:hasDbXref OMIM:614380 semapv:UnspecifiedMatching DOID:0060297 complement component 4a deficiency oboInOwl:hasDbXref ORDO:169147 semapv:UnspecifiedMatching -DOID:0060297 complement component 4a deficiency skos:exactMatch OMIM:614380 semapv:UnspecifiedMatching DOID:0060298 complement component 4b deficiency oboInOwl:hasDbXref ICD10CM:D84.1 semapv:UnspecifiedMatching -DOID:0060298 complement component 4b deficiency oboInOwl:hasDbXref OMIM:614379 semapv:UnspecifiedMatching DOID:0060298 complement component 4b deficiency oboInOwl:hasDbXref ORDO:169147 semapv:UnspecifiedMatching -DOID:0060298 complement component 4b deficiency skos:exactMatch OMIM:614379 semapv:UnspecifiedMatching DOID:0060299 complement component 6 deficiency oboInOwl:hasDbXref ICD10CM:D84.1 semapv:UnspecifiedMatching DOID:0060299 complement component 6 deficiency oboInOwl:hasDbXref MESH:C567307 semapv:UnspecifiedMatching -DOID:0060299 complement component 6 deficiency oboInOwl:hasDbXref OMIM:612446 semapv:UnspecifiedMatching DOID:0060299 complement component 6 deficiency oboInOwl:hasDbXref ORDO:169150 semapv:UnspecifiedMatching -DOID:0060299 complement component 6 deficiency skos:exactMatch OMIM:612446 semapv:UnspecifiedMatching DOID:0060300 complement component 7 deficiency oboInOwl:hasDbXref ICD10CM:D84.1 semapv:UnspecifiedMatching DOID:0060300 complement component 7 deficiency oboInOwl:hasDbXref MESH:C566443 semapv:UnspecifiedMatching -DOID:0060300 complement component 7 deficiency oboInOwl:hasDbXref OMIM:610102 semapv:UnspecifiedMatching DOID:0060300 complement component 7 deficiency oboInOwl:hasDbXref ORDO:1695150 semapv:UnspecifiedMatching -DOID:0060300 complement component 7 deficiency skos:exactMatch OMIM:610102 semapv:UnspecifiedMatching DOID:0060301 type I complement component 8 deficiency oboInOwl:hasDbXref ICD10CM:D84.1 semapv:UnspecifiedMatching -DOID:0060301 type I complement component 8 deficiency oboInOwl:hasDbXref OMIM:613790 semapv:UnspecifiedMatching DOID:0060301 type I complement component 8 deficiency oboInOwl:hasDbXref ORDO:169150 semapv:UnspecifiedMatching -DOID:0060301 type I complement component 8 deficiency skos:exactMatch OMIM:613790 semapv:UnspecifiedMatching DOID:0060302 type II complement component 8 deficiency oboInOwl:hasDbXref ICD10CM:D84.1 semapv:UnspecifiedMatching -DOID:0060302 type II complement component 8 deficiency oboInOwl:hasDbXref OMIM:613789 semapv:UnspecifiedMatching DOID:0060302 type II complement component 8 deficiency oboInOwl:hasDbXref ORDO:169150 semapv:UnspecifiedMatching -DOID:0060302 type II complement component 8 deficiency skos:exactMatch OMIM:613789 semapv:UnspecifiedMatching DOID:0060303 complement component 9 deficiency oboInOwl:hasDbXref ICD10CM:D84.1 semapv:UnspecifiedMatching -DOID:0060303 complement component 9 deficiency oboInOwl:hasDbXref OMIM:613825 semapv:UnspecifiedMatching DOID:0060303 complement component 9 deficiency oboInOwl:hasDbXref ORDO:169150 semapv:UnspecifiedMatching -DOID:0060303 complement component 9 deficiency skos:exactMatch OMIM:613825 semapv:UnspecifiedMatching DOID:0060304 dyschromatosis universalis hereditaria oboInOwl:hasDbXref GARD:1996 semapv:UnspecifiedMatching DOID:0060304 dyschromatosis universalis hereditaria oboInOwl:hasDbXref MESH:C535730 semapv:UnspecifiedMatching DOID:0060304 dyschromatosis universalis hereditaria oboInOwl:hasDbXref NCI:C173131 semapv:UnspecifiedMatching -DOID:0060304 dyschromatosis universalis hereditaria oboInOwl:hasDbXref OMIM:127500 semapv:UnspecifiedMatching -DOID:0060304 dyschromatosis universalis hereditaria oboInOwl:hasDbXref OMIM:612715 semapv:UnspecifiedMatching -DOID:0060304 dyschromatosis universalis hereditaria oboInOwl:hasDbXref OMIM:615402 semapv:UnspecifiedMatching DOID:0060304 dyschromatosis universalis hereditaria oboInOwl:hasDbXref ORDO:241 semapv:UnspecifiedMatching DOID:0060304 dyschromatosis universalis hereditaria oboInOwl:hasDbXref UMLS:C2930995 semapv:UnspecifiedMatching -DOID:0060305 megalocornea oboInOwl:hasDbXref OMIM:249300 semapv:UnspecifiedMatching -DOID:0060305 megalocornea oboInOwl:hasDbXref OMIM:309300 semapv:UnspecifiedMatching DOID:0060305 megalocornea oboInOwl:hasDbXref ORDO:91489 semapv:UnspecifiedMatching DOID:0060305 megalocornea oboInOwl:hasDbXref UMLS:C0344530 semapv:UnspecifiedMatching DOID:0060306 Meier-Gorlin syndrome oboInOwl:hasDbXref GARD:2033 semapv:UnspecifiedMatching DOID:0060306 Meier-Gorlin syndrome oboInOwl:hasDbXref MESH:C538012 semapv:UnspecifiedMatching -DOID:0060306 Meier-Gorlin syndrome oboInOwl:hasDbXref OMIMPS:224690 semapv:UnspecifiedMatching DOID:0060306 Meier-Gorlin syndrome oboInOwl:hasDbXref ORDO:2554 semapv:UnspecifiedMatching DOID:0060306 Meier-Gorlin syndrome oboInOwl:hasDbXref UMLS:C1868684 semapv:UnspecifiedMatching -DOID:0060306 Meier-Gorlin syndrome skos:exactMatch OMIMPS:224690 semapv:UnspecifiedMatching DOID:0060307 autosomal dominant intellectual developmental disorder oboInOwl:hasDbXref GARD:12107 semapv:UnspecifiedMatching -DOID:0060307 autosomal dominant intellectual developmental disorder oboInOwl:hasDbXref OMIMPS:156200 semapv:UnspecifiedMatching DOID:0060307 autosomal dominant intellectual developmental disorder oboInOwl:hasDbXref ORDO:178469 semapv:UnspecifiedMatching -DOID:0060307 autosomal dominant intellectual developmental disorder skos:exactMatch OMIMPS:156200 semapv:UnspecifiedMatching -DOID:0060308 autosomal recessive intellectual developmental disorder oboInOwl:hasDbXref OMIMPS:249500 semapv:UnspecifiedMatching DOID:0060308 autosomal recessive intellectual developmental disorder oboInOwl:hasDbXref ORDO:88616 semapv:UnspecifiedMatching -DOID:0060308 autosomal recessive intellectual developmental disorder skos:exactMatch OMIMPS:249500 semapv:UnspecifiedMatching -DOID:0060309 syndromic X-linked intellectual disability oboInOwl:hasDbXref OMIMPS:309510 semapv:UnspecifiedMatching -DOID:0060309 syndromic X-linked intellectual disability skos:exactMatch OMIMPS:309510 semapv:UnspecifiedMatching DOID:0060310 uvulitis oboInOwl:hasDbXref ICD10CM:K12.2 semapv:UnspecifiedMatching DOID:0060310 uvulitis oboInOwl:hasDbXref MEDDRA:10051962 semapv:UnspecifiedMatching DOID:0060311 adenoid hypertrophy oboInOwl:hasDbXref ICD10CM:J35.2 semapv:UnspecifiedMatching @@ -2600,12 +1643,10 @@ DOID:0060315 oral hairy leukoplakia oboInOwl:hasDbXref UMLS:C0206186 semapv:Unsp DOID:0060316 orofaciodigital syndrome I oboInOwl:hasDbXref ICD10CM:Q87.0 semapv:UnspecifiedMatching DOID:0060316 orofaciodigital syndrome I oboInOwl:hasDbXref MESH:D009958 semapv:UnspecifiedMatching DOID:0060316 orofaciodigital syndrome I oboInOwl:hasDbXref NCI:C75481 semapv:UnspecifiedMatching -DOID:0060316 orofaciodigital syndrome I oboInOwl:hasDbXref OMIM:311200 semapv:UnspecifiedMatching DOID:0060316 orofaciodigital syndrome I oboInOwl:hasDbXref ORDO:2750 semapv:UnspecifiedMatching DOID:0060316 orofaciodigital syndrome I oboInOwl:hasDbXref UMLS:C0026363 semapv:UnspecifiedMatching DOID:0060316 orofaciodigital syndrome I oboInOwl:hasDbXref UMLS:C0029294 semapv:UnspecifiedMatching DOID:0060316 orofaciodigital syndrome I oboInOwl:hasDbXref UMLS:C1510460 semapv:UnspecifiedMatching -DOID:0060316 orofaciodigital syndrome I skos:exactMatch OMIM:311200 semapv:UnspecifiedMatching DOID:0060317 lung abscess oboInOwl:hasDbXref ICD10CM:J85.2 semapv:UnspecifiedMatching DOID:0060317 lung abscess oboInOwl:hasDbXref ICD9CM:513.0 semapv:UnspecifiedMatching DOID:0060317 lung abscess oboInOwl:hasDbXref MESH:D008169 semapv:UnspecifiedMatching @@ -2615,10 +1656,8 @@ DOID:0060318 acute promyelocytic leukemia oboInOwl:hasDbXref GARD:538 semapv:Uns DOID:0060318 acute promyelocytic leukemia oboInOwl:hasDbXref ICD10CM:C92.4 semapv:UnspecifiedMatching DOID:0060318 acute promyelocytic leukemia oboInOwl:hasDbXref MESH:D015473 semapv:UnspecifiedMatching DOID:0060318 acute promyelocytic leukemia oboInOwl:hasDbXref NCI:C3182 semapv:UnspecifiedMatching -DOID:0060318 acute promyelocytic leukemia oboInOwl:hasDbXref OMIM:612376 semapv:UnspecifiedMatching DOID:0060318 acute promyelocytic leukemia oboInOwl:hasDbXref ORDO:520 semapv:UnspecifiedMatching DOID:0060318 acute promyelocytic leukemia oboInOwl:hasDbXref UMLS:C0023487 semapv:UnspecifiedMatching -DOID:0060318 acute promyelocytic leukemia skos:exactMatch OMIM:612376 semapv:UnspecifiedMatching DOID:0060319 cardiac arrest oboInOwl:hasDbXref ICD10CM:I46 semapv:UnspecifiedMatching DOID:0060319 cardiac arrest oboInOwl:hasDbXref ICD9CM:427.5 semapv:UnspecifiedMatching DOID:0060319 cardiac arrest oboInOwl:hasDbXref MESH:D006323 semapv:UnspecifiedMatching @@ -2661,10 +1700,8 @@ DOID:0060327 omphalocele oboInOwl:hasDbXref ICD10CM:Q79.2 semapv:UnspecifiedMatc DOID:0060327 omphalocele oboInOwl:hasDbXref ICD9CM:756.72 semapv:UnspecifiedMatching DOID:0060327 omphalocele oboInOwl:hasDbXref MESH:D006554 semapv:UnspecifiedMatching DOID:0060327 omphalocele oboInOwl:hasDbXref NCI:C98997 semapv:UnspecifiedMatching -DOID:0060327 omphalocele oboInOwl:hasDbXref OMIM:164750 semapv:UnspecifiedMatching DOID:0060327 omphalocele oboInOwl:hasDbXref UMLS:C0795690 semapv:UnspecifiedMatching DOID:0060327 omphalocele oboInOwl:hasDbXref UMLS:C1306503 semapv:UnspecifiedMatching -DOID:0060327 omphalocele skos:exactMatch OMIM:164750 semapv:UnspecifiedMatching DOID:0060328 anal fistula oboInOwl:hasDbXref ICD10CM:K60.3 semapv:UnspecifiedMatching DOID:0060328 anal fistula oboInOwl:hasDbXref MESH:D012003 semapv:UnspecifiedMatching DOID:0060329 ectopic pregnancy oboInOwl:hasDbXref GARD:6318 semapv:UnspecifiedMatching @@ -2675,46 +1712,25 @@ DOID:0060329 ectopic pregnancy oboInOwl:hasDbXref NCI:C34945 semapv:UnspecifiedM DOID:0060329 ectopic pregnancy oboInOwl:hasDbXref UMLS:C0032987 semapv:UnspecifiedMatching DOID:0060330 Rapp-Hodgkin syndrome oboInOwl:hasDbXref GARD:5690 semapv:UnspecifiedMatching DOID:0060330 Rapp-Hodgkin syndrome oboInOwl:hasDbXref MESH:C535289 semapv:UnspecifiedMatching -DOID:0060330 Rapp-Hodgkin syndrome oboInOwl:hasDbXref OMIM:129400 semapv:UnspecifiedMatching DOID:0060330 Rapp-Hodgkin syndrome oboInOwl:hasDbXref ORDO:3022 semapv:UnspecifiedMatching -DOID:0060330 Rapp-Hodgkin syndrome skos:exactMatch OMIM:129400 semapv:UnspecifiedMatching DOID:0060331 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 oboInOwl:hasDbXref GARD:12965 semapv:UnspecifiedMatching -DOID:0060331 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 oboInOwl:hasDbXref OMIM:614052 semapv:UnspecifiedMatching DOID:0060331 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 oboInOwl:hasDbXref ORDO:1194 semapv:UnspecifiedMatching DOID:0060331 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 oboInOwl:hasDbXref UMLS:C4273660 semapv:UnspecifiedMatching -DOID:0060331 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 skos:exactMatch OMIM:614052 semapv:UnspecifiedMatching -DOID:0060332 mitochondrial complex V (ATP synthase) deficiency nuclear type 3 oboInOwl:hasDbXref OMIM:614053 semapv:UnspecifiedMatching -DOID:0060332 mitochondrial complex V (ATP synthase) deficiency nuclear type 3 skos:exactMatch OMIM:614053 semapv:UnspecifiedMatching DOID:0060334 transient neonatal diabetes mellitus oboInOwl:hasDbXref GARD:1839 semapv:UnspecifiedMatching DOID:0060334 transient neonatal diabetes mellitus oboInOwl:hasDbXref ICD10CM:P70.2 semapv:UnspecifiedMatching -DOID:0060334 transient neonatal diabetes mellitus oboInOwl:hasDbXref OMIM:601410 semapv:UnspecifiedMatching -DOID:0060334 transient neonatal diabetes mellitus oboInOwl:hasDbXref OMIM:610374 semapv:UnspecifiedMatching -DOID:0060334 transient neonatal diabetes mellitus oboInOwl:hasDbXref OMIM:610582 semapv:UnspecifiedMatching DOID:0060334 transient neonatal diabetes mellitus oboInOwl:hasDbXref ORDO:99886 semapv:UnspecifiedMatching -DOID:0060335 autosomal dominant sideroblastic anemia 4 oboInOwl:hasDbXref OMIM:182170 semapv:UnspecifiedMatching -DOID:0060335 autosomal dominant sideroblastic anemia 4 skos:exactMatch OMIM:182170 semapv:UnspecifiedMatching DOID:0060336 3-methylglutaconic aciduria oboInOwl:hasDbXref ICD10CM:E71.111 semapv:UnspecifiedMatching DOID:0060336 3-methylglutaconic aciduria oboInOwl:hasDbXref MESH:C579867 semapv:UnspecifiedMatching -DOID:0060336 3-methylglutaconic aciduria oboInOwl:hasDbXref OMIMPS:250950 semapv:UnspecifiedMatching DOID:0060336 3-methylglutaconic aciduria oboInOwl:hasDbXref ORDO:289902 semapv:UnspecifiedMatching -DOID:0060336 3-methylglutaconic aciduria skos:exactMatch OMIMPS:250950 semapv:UnspecifiedMatching DOID:0060337 CEDNIK syndrome oboInOwl:hasDbXref MESH:C537943 semapv:UnspecifiedMatching -DOID:0060337 CEDNIK syndrome oboInOwl:hasDbXref OMIM:609528 semapv:UnspecifiedMatching DOID:0060337 CEDNIK syndrome oboInOwl:hasDbXref ORDO:66631 semapv:UnspecifiedMatching DOID:0060337 CEDNIK syndrome oboInOwl:hasDbXref UMLS:C1836033 semapv:UnspecifiedMatching -DOID:0060337 CEDNIK syndrome skos:exactMatch OMIM:609528 semapv:UnspecifiedMatching -DOID:0060339 chronic atrial and intestinal dysrhythmia oboInOwl:hasDbXref OMIM:616201 semapv:UnspecifiedMatching -DOID:0060339 chronic atrial and intestinal dysrhythmia skos:exactMatch OMIM:616201 semapv:UnspecifiedMatching DOID:0060341 agnathia-otocephaly complex oboInOwl:hasDbXref ICD10CM:Q18.2 semapv:UnspecifiedMatching DOID:0060341 agnathia-otocephaly complex oboInOwl:hasDbXref MESH:C562503 semapv:UnspecifiedMatching -DOID:0060341 agnathia-otocephaly complex oboInOwl:hasDbXref OMIM:202650 semapv:UnspecifiedMatching DOID:0060341 agnathia-otocephaly complex oboInOwl:hasDbXref ORDO:990 semapv:UnspecifiedMatching -DOID:0060341 agnathia-otocephaly complex skos:exactMatch OMIM:202650 semapv:UnspecifiedMatching DOID:0060342 acromelic frontonasal dysostosis oboInOwl:hasDbXref GARD:5539 semapv:UnspecifiedMatching DOID:0060342 acromelic frontonasal dysostosis oboInOwl:hasDbXref MESH:C566345 semapv:UnspecifiedMatching -DOID:0060342 acromelic frontonasal dysostosis oboInOwl:hasDbXref OMIM:603671 semapv:UnspecifiedMatching DOID:0060342 acromelic frontonasal dysostosis oboInOwl:hasDbXref ORDO:1827 semapv:UnspecifiedMatching -DOID:0060342 acromelic frontonasal dysostosis skos:exactMatch OMIM:603671 semapv:UnspecifiedMatching DOID:0060344 acrodermatitis chronica atrophicans oboInOwl:hasDbXref ICD9CM:701.8 semapv:UnspecifiedMatching DOID:0060344 acrodermatitis chronica atrophicans oboInOwl:hasDbXref UMLS:C0029805 semapv:UnspecifiedMatching DOID:0060345 bacillary angiomatosis oboInOwl:hasDbXref MESH:D016917 semapv:UnspecifiedMatching @@ -2722,514 +1738,295 @@ DOID:0060345 bacillary angiomatosis oboInOwl:hasDbXref NCI:C3477 semapv:Unspecif DOID:0060345 bacillary angiomatosis oboInOwl:hasDbXref UMLS:C0085434 semapv:UnspecifiedMatching DOID:0060346 Native American myopathy oboInOwl:hasDbXref GARD:8432 semapv:UnspecifiedMatching DOID:0060346 Native American myopathy oboInOwl:hasDbXref MESH:C538343 semapv:UnspecifiedMatching -DOID:0060346 Native American myopathy oboInOwl:hasDbXref OMIM:255995 semapv:UnspecifiedMatching DOID:0060346 Native American myopathy oboInOwl:hasDbXref ORDO:168572 semapv:UnspecifiedMatching DOID:0060346 Native American myopathy oboInOwl:hasDbXref UMLS:C1850625 semapv:UnspecifiedMatching -DOID:0060346 Native American myopathy skos:exactMatch OMIM:255995 semapv:UnspecifiedMatching DOID:0060347 acrorenal syndrome oboInOwl:hasDbXref MESH:C563159 semapv:UnspecifiedMatching -DOID:0060347 acrorenal syndrome oboInOwl:hasDbXref OMIM:102520 semapv:UnspecifiedMatching -DOID:0060347 acrorenal syndrome oboInOwl:hasDbXref OMIM:201310 semapv:UnspecifiedMatching DOID:0060347 acrorenal syndrome oboInOwl:hasDbXref UMLS:C3495490 semapv:UnspecifiedMatching DOID:0060348 hypoparathyroidism-retardation-dysmorphism syndrome oboInOwl:hasDbXref GARD:411 semapv:UnspecifiedMatching DOID:0060348 hypoparathyroidism-retardation-dysmorphism syndrome oboInOwl:hasDbXref MESH:C537157 semapv:UnspecifiedMatching DOID:0060348 hypoparathyroidism-retardation-dysmorphism syndrome oboInOwl:hasDbXref NCI:C133727 semapv:UnspecifiedMatching -DOID:0060348 hypoparathyroidism-retardation-dysmorphism syndrome oboInOwl:hasDbXref OMIM:241410 semapv:UnspecifiedMatching DOID:0060348 hypoparathyroidism-retardation-dysmorphism syndrome oboInOwl:hasDbXref ORDO:2323 semapv:UnspecifiedMatching DOID:0060348 hypoparathyroidism-retardation-dysmorphism syndrome oboInOwl:hasDbXref UMLS:C1855840 semapv:UnspecifiedMatching -DOID:0060348 hypoparathyroidism-retardation-dysmorphism syndrome skos:exactMatch OMIM:241410 semapv:UnspecifiedMatching DOID:0060349 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation oboInOwl:hasDbXref MESH:C537711 semapv:UnspecifiedMatching -DOID:0060349 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation oboInOwl:hasDbXref OMIM:152950 semapv:UnspecifiedMatching DOID:0060349 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation oboInOwl:hasDbXref ORDO:2526 semapv:UnspecifiedMatching DOID:0060349 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation oboInOwl:hasDbXref UMLS:C1835265 semapv:UnspecifiedMatching -DOID:0060349 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation skos:exactMatch OMIM:152950 semapv:UnspecifiedMatching DOID:0060350 adenine phosphoribosyltransferase deficiency oboInOwl:hasDbXref GARD:10666 semapv:UnspecifiedMatching DOID:0060350 adenine phosphoribosyltransferase deficiency oboInOwl:hasDbXref GARD:546 semapv:UnspecifiedMatching DOID:0060350 adenine phosphoribosyltransferase deficiency oboInOwl:hasDbXref MESH:C538228 semapv:UnspecifiedMatching DOID:0060350 adenine phosphoribosyltransferase deficiency oboInOwl:hasDbXref NCI:C121564 semapv:UnspecifiedMatching -DOID:0060350 adenine phosphoribosyltransferase deficiency oboInOwl:hasDbXref OMIM:614723 semapv:UnspecifiedMatching DOID:0060350 adenine phosphoribosyltransferase deficiency oboInOwl:hasDbXref UMLS:C0268120 semapv:UnspecifiedMatching DOID:0060350 adenine phosphoribosyltransferase deficiency oboInOwl:hasDbXref UMLS:C3665382 semapv:UnspecifiedMatching -DOID:0060350 adenine phosphoribosyltransferase deficiency skos:exactMatch OMIM:614723 semapv:UnspecifiedMatching -DOID:0060351 mitochondrial complex III deficiency nuclear type 2 oboInOwl:hasDbXref OMIM:615157 semapv:UnspecifiedMatching -DOID:0060351 mitochondrial complex III deficiency nuclear type 2 skos:exactMatch OMIM:615157 semapv:UnspecifiedMatching DOID:0060352 Kleefstra syndrome 1 oboInOwl:hasDbXref GARD:8672 semapv:UnspecifiedMatching DOID:0060352 Kleefstra syndrome 1 oboInOwl:hasDbXref MESH:C563043 semapv:UnspecifiedMatching DOID:0060352 Kleefstra syndrome 1 oboInOwl:hasDbXref NCI:C129976 semapv:UnspecifiedMatching -DOID:0060352 Kleefstra syndrome 1 oboInOwl:hasDbXref OMIM:610253 semapv:UnspecifiedMatching DOID:0060352 Kleefstra syndrome 1 oboInOwl:hasDbXref ORDO:261494 semapv:UnspecifiedMatching DOID:0060352 Kleefstra syndrome 1 oboInOwl:hasDbXref UMLS:C0795833 semapv:UnspecifiedMatching -DOID:0060352 Kleefstra syndrome 1 skos:exactMatch OMIM:610253 semapv:UnspecifiedMatching -DOID:0060353 acrofacial dysostosis Cincinnati type oboInOwl:hasDbXref OMIM:616462 semapv:UnspecifiedMatching -DOID:0060353 acrofacial dysostosis Cincinnati type skos:exactMatch OMIM:616462 semapv:UnspecifiedMatching DOID:0060354 Stormorken syndrome oboInOwl:hasDbXref MESH:C566108 semapv:UnspecifiedMatching -DOID:0060354 Stormorken syndrome oboInOwl:hasDbXref OMIM:185070 semapv:UnspecifiedMatching DOID:0060354 Stormorken syndrome oboInOwl:hasDbXref ORDO:3204 semapv:UnspecifiedMatching DOID:0060354 Stormorken syndrome oboInOwl:hasDbXref UMLS:C1861451 semapv:UnspecifiedMatching -DOID:0060354 Stormorken syndrome skos:exactMatch OMIM:185070 semapv:UnspecifiedMatching -DOID:0060355 amyotrophic lateral sclerosis type 22 oboInOwl:hasDbXref OMIM:616208 semapv:UnspecifiedMatching -DOID:0060355 amyotrophic lateral sclerosis type 22 skos:exactMatch OMIM:616208 semapv:UnspecifiedMatching DOID:0060356 Vici syndrome oboInOwl:hasDbXref GARD:448 semapv:UnspecifiedMatching DOID:0060356 Vici syndrome oboInOwl:hasDbXref MESH:C535566 semapv:UnspecifiedMatching DOID:0060356 Vici syndrome oboInOwl:hasDbXref NCI:C138174 semapv:UnspecifiedMatching -DOID:0060356 Vici syndrome oboInOwl:hasDbXref OMIM:242840 semapv:UnspecifiedMatching DOID:0060356 Vici syndrome oboInOwl:hasDbXref ORDO:1493 semapv:UnspecifiedMatching DOID:0060356 Vici syndrome oboInOwl:hasDbXref UMLS:C1855772 semapv:UnspecifiedMatching -DOID:0060356 Vici syndrome skos:exactMatch OMIM:242840 semapv:UnspecifiedMatching DOID:0060357 chylomicron retention disease oboInOwl:hasDbXref GARD:9683 semapv:UnspecifiedMatching DOID:0060357 chylomicron retention disease oboInOwl:hasDbXref ICD10CM:E78.3 semapv:UnspecifiedMatching DOID:0060357 chylomicron retention disease oboInOwl:hasDbXref MESH:C535460 semapv:UnspecifiedMatching -DOID:0060357 chylomicron retention disease oboInOwl:hasDbXref OMIM:246700 semapv:UnspecifiedMatching DOID:0060357 chylomicron retention disease oboInOwl:hasDbXref ORDO:71 semapv:UnspecifiedMatching DOID:0060357 chylomicron retention disease oboInOwl:hasDbXref UMLS:C0795956 semapv:UnspecifiedMatching -DOID:0060357 chylomicron retention disease skos:exactMatch OMIM:246700 semapv:UnspecifiedMatching DOID:0060358 multiple acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10CM:E71.313 semapv:UnspecifiedMatching DOID:0060358 multiple acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref MESH:D054069 semapv:UnspecifiedMatching DOID:0060358 multiple acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref NCI:C84907 semapv:UnspecifiedMatching -DOID:0060358 multiple acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref OMIM:231680 semapv:UnspecifiedMatching DOID:0060358 multiple acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ORDO:26791 semapv:UnspecifiedMatching DOID:0060358 multiple acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C0268596 semapv:UnspecifiedMatching DOID:0060358 multiple acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C1856401 semapv:UnspecifiedMatching DOID:0060358 multiple acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C1856403 semapv:UnspecifiedMatching DOID:0060358 multiple acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C1856405 semapv:UnspecifiedMatching -DOID:0060358 multiple acyl-CoA dehydrogenase deficiency skos:exactMatch OMIM:231680 semapv:UnspecifiedMatching DOID:0060359 Sakati-Nyhan syndrome oboInOwl:hasDbXref GARD:115 semapv:UnspecifiedMatching DOID:0060359 Sakati-Nyhan syndrome oboInOwl:hasDbXref ICD10CM:Q87.0 semapv:UnspecifiedMatching DOID:0060359 Sakati-Nyhan syndrome oboInOwl:hasDbXref MESH:C537227 semapv:UnspecifiedMatching -DOID:0060359 Sakati-Nyhan syndrome oboInOwl:hasDbXref OMIM:101120 semapv:UnspecifiedMatching DOID:0060359 Sakati-Nyhan syndrome oboInOwl:hasDbXref ORDO:3128 semapv:UnspecifiedMatching -DOID:0060359 Sakati-Nyhan syndrome skos:exactMatch OMIM:101120 semapv:UnspecifiedMatching DOID:0060360 hereditary papulotranslucent acrokeratoderma oboInOwl:hasDbXref MESH:C566323 semapv:UnspecifiedMatching -DOID:0060360 hereditary papulotranslucent acrokeratoderma oboInOwl:hasDbXref OMIM:101840 semapv:UnspecifiedMatching -DOID:0060360 hereditary papulotranslucent acrokeratoderma skos:exactMatch OMIM:101840 semapv:UnspecifiedMatching DOID:0060361 punctate palmoplantar keratoderma oboInOwl:hasDbXref ORDO:307967 semapv:UnspecifiedMatching DOID:0060361 punctate palmoplantar keratoderma oboInOwl:hasDbXref UMLS:C1274216 semapv:UnspecifiedMatching DOID:0060362 punctate palmoplantar keratoderma type III oboInOwl:hasDbXref MESH:C535653 semapv:UnspecifiedMatching -DOID:0060362 punctate palmoplantar keratoderma type III oboInOwl:hasDbXref OMIM:101850 semapv:UnspecifiedMatching DOID:0060362 punctate palmoplantar keratoderma type III oboInOwl:hasDbXref ORDO:38 semapv:UnspecifiedMatching DOID:0060362 punctate palmoplantar keratoderma type III oboInOwl:hasDbXref UMLS:C0545044 semapv:UnspecifiedMatching -DOID:0060362 punctate palmoplantar keratoderma type III skos:exactMatch OMIM:101850 semapv:UnspecifiedMatching -DOID:0060363 glycerol kinase deficiency oboInOwl:hasDbXref OMIM:307030 semapv:UnspecifiedMatching DOID:0060363 glycerol kinase deficiency oboInOwl:hasDbXref ORDO:408 semapv:UnspecifiedMatching DOID:0060363 glycerol kinase deficiency oboInOwl:hasDbXref UMLS:C0574108 semapv:UnspecifiedMatching -DOID:0060363 glycerol kinase deficiency skos:exactMatch OMIM:307030 semapv:UnspecifiedMatching -DOID:0060364 Galloway-Mowat syndrome 1 oboInOwl:hasDbXref OMIM:251300 semapv:UnspecifiedMatching -DOID:0060364 Galloway-Mowat syndrome 1 skos:exactMatch OMIM:251300 semapv:UnspecifiedMatching -DOID:0060365 mandibulofacial dysostosis with alopecia oboInOwl:hasDbXref OMIM:616367 semapv:UnspecifiedMatching -DOID:0060365 mandibulofacial dysostosis with alopecia skos:exactMatch OMIM:616367 semapv:UnspecifiedMatching DOID:0060366 Hennekam syndrome oboInOwl:hasDbXref GARD:3318 semapv:UnspecifiedMatching DOID:0060366 Hennekam syndrome oboInOwl:hasDbXref MESH:C537255 semapv:UnspecifiedMatching -DOID:0060366 Hennekam syndrome oboInOwl:hasDbXref OMIM:235510 semapv:UnspecifiedMatching -DOID:0060366 Hennekam syndrome oboInOwl:hasDbXref OMIM:616006 semapv:UnspecifiedMatching DOID:0060366 Hennekam syndrome oboInOwl:hasDbXref ORDO:2136 semapv:UnspecifiedMatching DOID:0060366 Hennekam syndrome oboInOwl:hasDbXref UMLS:C0340834 semapv:UnspecifiedMatching -DOID:0060367 Parkinson's disease 1 oboInOwl:hasDbXref OMIM:168601 semapv:UnspecifiedMatching -DOID:0060367 Parkinson's disease 1 skos:exactMatch OMIM:168601 semapv:UnspecifiedMatching -DOID:0060368 Parkinson's disease 2 oboInOwl:hasDbXref OMIM:600116 semapv:UnspecifiedMatching -DOID:0060368 Parkinson's disease 2 skos:exactMatch OMIM:600116 semapv:UnspecifiedMatching -DOID:0060369 Parkinson's disease 6 oboInOwl:hasDbXref OMIM:605909 semapv:UnspecifiedMatching -DOID:0060369 Parkinson's disease 6 skos:exactMatch OMIM:605909 semapv:UnspecifiedMatching -DOID:0060370 Parkinson's disease 7 oboInOwl:hasDbXref OMIM:606324 semapv:UnspecifiedMatching -DOID:0060370 Parkinson's disease 7 skos:exactMatch OMIM:606324 semapv:UnspecifiedMatching -DOID:0060371 Parkinson's disease 8 oboInOwl:hasDbXref OMIM:607060 semapv:UnspecifiedMatching -DOID:0060371 Parkinson's disease 8 skos:exactMatch OMIM:607060 semapv:UnspecifiedMatching -DOID:0060372 Parkinson's disease 15 oboInOwl:hasDbXref OMIM:260300 semapv:UnspecifiedMatching -DOID:0060372 Parkinson's disease 15 skos:exactMatch OMIM:260300 semapv:UnspecifiedMatching DOID:0060373 orofaciodigital syndrome III oboInOwl:hasDbXref MESH:C557817 semapv:UnspecifiedMatching -DOID:0060373 orofaciodigital syndrome III oboInOwl:hasDbXref OMIM:258850 semapv:UnspecifiedMatching DOID:0060373 orofaciodigital syndrome III oboInOwl:hasDbXref ORDO:2752 semapv:UnspecifiedMatching DOID:0060373 orofaciodigital syndrome III oboInOwl:hasDbXref UMLS:C0406726 semapv:UnspecifiedMatching -DOID:0060373 orofaciodigital syndrome III skos:exactMatch OMIM:258850 semapv:UnspecifiedMatching DOID:0060374 orofaciodigital syndrome IV oboInOwl:hasDbXref MESH:C537133 semapv:UnspecifiedMatching -DOID:0060374 orofaciodigital syndrome IV oboInOwl:hasDbXref OMIM:258860 semapv:UnspecifiedMatching DOID:0060374 orofaciodigital syndrome IV oboInOwl:hasDbXref ORDO:2753 semapv:UnspecifiedMatching DOID:0060374 orofaciodigital syndrome IV oboInOwl:hasDbXref UMLS:C0406727 semapv:UnspecifiedMatching -DOID:0060374 orofaciodigital syndrome IV skos:exactMatch OMIM:258860 semapv:UnspecifiedMatching DOID:0060375 orofaciodigital syndrome V oboInOwl:hasDbXref MESH:C557819 semapv:UnspecifiedMatching -DOID:0060375 orofaciodigital syndrome V oboInOwl:hasDbXref OMIM:174300 semapv:UnspecifiedMatching DOID:0060375 orofaciodigital syndrome V oboInOwl:hasDbXref ORDO:2919 semapv:UnspecifiedMatching DOID:0060375 orofaciodigital syndrome V oboInOwl:hasDbXref UMLS:C1868118 semapv:UnspecifiedMatching -DOID:0060375 orofaciodigital syndrome V skos:exactMatch OMIM:174300 semapv:UnspecifiedMatching DOID:0060376 Joubert syndrome with orofaciodigital defect oboInOwl:hasDbXref GARD:4412 semapv:UnspecifiedMatching DOID:0060376 Joubert syndrome with orofaciodigital defect oboInOwl:hasDbXref MESH:C536531 semapv:UnspecifiedMatching DOID:0060376 Joubert syndrome with orofaciodigital defect oboInOwl:hasDbXref NCI:C124841 semapv:UnspecifiedMatching -DOID:0060376 Joubert syndrome with orofaciodigital defect oboInOwl:hasDbXref OMIM:277170 semapv:UnspecifiedMatching DOID:0060376 Joubert syndrome with orofaciodigital defect oboInOwl:hasDbXref ORDO:2754 semapv:UnspecifiedMatching DOID:0060376 Joubert syndrome with orofaciodigital defect oboInOwl:hasDbXref UMLS:C2745997 semapv:UnspecifiedMatching -DOID:0060376 Joubert syndrome with orofaciodigital defect skos:exactMatch OMIM:277170 semapv:UnspecifiedMatching DOID:0060377 orofaciodigital syndrome VII oboInOwl:hasDbXref MESH:C563104 semapv:UnspecifiedMatching -DOID:0060377 orofaciodigital syndrome VII oboInOwl:hasDbXref OMIM:608518 semapv:UnspecifiedMatching DOID:0060377 orofaciodigital syndrome VII oboInOwl:hasDbXref ORDO:90649 semapv:UnspecifiedMatching -DOID:0060377 orofaciodigital syndrome VII skos:exactMatch OMIM:608518 semapv:UnspecifiedMatching DOID:0060378 orofaciodigital syndrome VIII oboInOwl:hasDbXref MESH:C557820 semapv:UnspecifiedMatching -DOID:0060378 orofaciodigital syndrome VIII oboInOwl:hasDbXref OMIM:300484 semapv:UnspecifiedMatching DOID:0060378 orofaciodigital syndrome VIII oboInOwl:hasDbXref ORDO:2755 semapv:UnspecifiedMatching DOID:0060378 orofaciodigital syndrome VIII oboInOwl:hasDbXref UMLS:C0796101 semapv:UnspecifiedMatching -DOID:0060378 orofaciodigital syndrome VIII skos:exactMatch OMIM:300484 semapv:UnspecifiedMatching DOID:0060380 orofaciodigital syndrome X oboInOwl:hasDbXref ICD10CM:Q87.0 semapv:UnspecifiedMatching DOID:0060380 orofaciodigital syndrome X oboInOwl:hasDbXref MESH:C563491 semapv:UnspecifiedMatching -DOID:0060380 orofaciodigital syndrome X oboInOwl:hasDbXref OMIM:165590 semapv:UnspecifiedMatching DOID:0060380 orofaciodigital syndrome X oboInOwl:hasDbXref ORDO:2756 semapv:UnspecifiedMatching -DOID:0060380 orofaciodigital syndrome X skos:exactMatch OMIM:165590 semapv:UnspecifiedMatching DOID:0060381 orofaciodigital syndrome XI oboInOwl:hasDbXref MESH:C557821 semapv:UnspecifiedMatching -DOID:0060381 orofaciodigital syndrome XI oboInOwl:hasDbXref OMIM:612913 semapv:UnspecifiedMatching DOID:0060381 orofaciodigital syndrome XI oboInOwl:hasDbXref ORDO:141000 semapv:UnspecifiedMatching DOID:0060381 orofaciodigital syndrome XI oboInOwl:hasDbXref UMLS:C2752048 semapv:UnspecifiedMatching -DOID:0060381 orofaciodigital syndrome XI skos:exactMatch OMIM:612913 semapv:UnspecifiedMatching DOID:0060382 orofaciodigital syndrome IX oboInOwl:hasDbXref GARD:10520 semapv:UnspecifiedMatching DOID:0060382 orofaciodigital syndrome IX oboInOwl:hasDbXref MESH:C557818 semapv:UnspecifiedMatching -DOID:0060382 orofaciodigital syndrome IX oboInOwl:hasDbXref OMIM:258865 semapv:UnspecifiedMatching DOID:0060382 orofaciodigital syndrome IX oboInOwl:hasDbXref ORDO:141007 semapv:UnspecifiedMatching DOID:0060382 orofaciodigital syndrome IX oboInOwl:hasDbXref UMLS:C0796102 semapv:UnspecifiedMatching -DOID:0060382 orofaciodigital syndrome IX skos:exactMatch OMIM:258865 semapv:UnspecifiedMatching DOID:0060383 acrofacial dysostosis Rodriguez type oboInOwl:hasDbXref GARD:496 semapv:UnspecifiedMatching DOID:0060383 acrofacial dysostosis Rodriguez type oboInOwl:hasDbXref MESH:C538183 semapv:UnspecifiedMatching -DOID:0060383 acrofacial dysostosis Rodriguez type oboInOwl:hasDbXref OMIM:201170 semapv:UnspecifiedMatching DOID:0060383 acrofacial dysostosis Rodriguez type oboInOwl:hasDbXref ORDO:1788 semapv:UnspecifiedMatching DOID:0060383 acrofacial dysostosis Rodriguez type oboInOwl:hasDbXref UMLS:C1860119 semapv:UnspecifiedMatching -DOID:0060383 acrofacial dysostosis Rodriguez type skos:exactMatch OMIM:201170 semapv:UnspecifiedMatching DOID:0060384 acrofacial dysostosis, Catania type oboInOwl:hasDbXref GARD:494 semapv:UnspecifiedMatching DOID:0060384 acrofacial dysostosis, Catania type oboInOwl:hasDbXref MESH:C538182 semapv:UnspecifiedMatching -DOID:0060384 acrofacial dysostosis, Catania type oboInOwl:hasDbXref OMIM:101805 semapv:UnspecifiedMatching DOID:0060384 acrofacial dysostosis, Catania type oboInOwl:hasDbXref ORDO:1786 semapv:UnspecifiedMatching DOID:0060384 acrofacial dysostosis, Catania type oboInOwl:hasDbXref UMLS:C2931762 semapv:UnspecifiedMatching -DOID:0060384 acrofacial dysostosis, Catania type skos:exactMatch OMIM:101805 semapv:UnspecifiedMatching DOID:0060385 acrofacial dysostosis, Patagonia type oboInOwl:hasDbXref MESH:C538185 semapv:UnspecifiedMatching -DOID:0060385 acrofacial dysostosis, Patagonia type oboInOwl:hasDbXref OMIM:601829 semapv:UnspecifiedMatching DOID:0060385 acrofacial dysostosis, Patagonia type oboInOwl:hasDbXref ORDO:1787 semapv:UnspecifiedMatching DOID:0060385 acrofacial dysostosis, Patagonia type oboInOwl:hasDbXref UMLS:C1866168 semapv:UnspecifiedMatching -DOID:0060385 acrofacial dysostosis, Patagonia type skos:exactMatch OMIM:601829 semapv:UnspecifiedMatching DOID:0060386 Chilblain lupus oboInOwl:hasDbXref MESH:C535924 semapv:UnspecifiedMatching -DOID:0060386 Chilblain lupus oboInOwl:hasDbXref OMIM:610448 semapv:UnspecifiedMatching -DOID:0060386 Chilblain lupus oboInOwl:hasDbXref OMIM:614415 semapv:UnspecifiedMatching DOID:0060386 Chilblain lupus oboInOwl:hasDbXref ORDO:90280 semapv:UnspecifiedMatching DOID:0060386 Chilblain lupus oboInOwl:hasDbXref UMLS:C0024145 semapv:UnspecifiedMatching DOID:0060387 chondrodysplasia Blomstrand type oboInOwl:hasDbXref GARD:914 semapv:UnspecifiedMatching DOID:0060387 chondrodysplasia Blomstrand type oboInOwl:hasDbXref MESH:C537914 semapv:UnspecifiedMatching DOID:0060387 chondrodysplasia Blomstrand type oboInOwl:hasDbXref NCI:C131420 semapv:UnspecifiedMatching -DOID:0060387 chondrodysplasia Blomstrand type oboInOwl:hasDbXref OMIM:215045 semapv:UnspecifiedMatching DOID:0060387 chondrodysplasia Blomstrand type oboInOwl:hasDbXref ORDO:50945 semapv:UnspecifiedMatching DOID:0060387 chondrodysplasia Blomstrand type oboInOwl:hasDbXref UMLS:C1859148 semapv:UnspecifiedMatching -DOID:0060387 chondrodysplasia Blomstrand type skos:exactMatch OMIM:215045 semapv:UnspecifiedMatching DOID:0060389 chromosome 10q23 deletion syndrome oboInOwl:hasDbXref MESH:C567385 semapv:UnspecifiedMatching -DOID:0060389 chromosome 10q23 deletion syndrome oboInOwl:hasDbXref OMIM:612242 semapv:UnspecifiedMatching -DOID:0060389 chromosome 10q23 deletion syndrome skos:exactMatch OMIM:612242 semapv:UnspecifiedMatching DOID:0060390 distal 10q deletion syndrome oboInOwl:hasDbXref ICD10CM:Q93.5 semapv:UnspecifiedMatching DOID:0060390 distal 10q deletion syndrome oboInOwl:hasDbXref MESH:C567182 semapv:UnspecifiedMatching -DOID:0060390 distal 10q deletion syndrome oboInOwl:hasDbXref OMIM:609625 semapv:UnspecifiedMatching DOID:0060390 distal 10q deletion syndrome oboInOwl:hasDbXref ORDO:96148 semapv:UnspecifiedMatching -DOID:0060390 distal 10q deletion syndrome skos:exactMatch OMIM:609625 semapv:UnspecifiedMatching DOID:0060391 chromosome 13q14 deletion syndrome oboInOwl:hasDbXref ICD10CM:Q93.5 semapv:UnspecifiedMatching -DOID:0060391 chromosome 13q14 deletion syndrome oboInOwl:hasDbXref OMIM:613884 semapv:UnspecifiedMatching DOID:0060391 chromosome 13q14 deletion syndrome oboInOwl:hasDbXref ORDO:1587 semapv:UnspecifiedMatching -DOID:0060391 chromosome 13q14 deletion syndrome skos:exactMatch OMIM:613884 semapv:UnspecifiedMatching -DOID:0060392 chromosome 14q11-q22 deletion syndrome oboInOwl:hasDbXref OMIM:613457 semapv:UnspecifiedMatching DOID:0060392 chromosome 14q11-q22 deletion syndrome oboInOwl:hasDbXref ORDO:261120 semapv:UnspecifiedMatching -DOID:0060392 chromosome 14q11-q22 deletion syndrome skos:exactMatch OMIM:613457 semapv:UnspecifiedMatching -DOID:0060393 chromosome 15q11.2 deletion syndrome oboInOwl:hasDbXref OMIM:615656 semapv:UnspecifiedMatching DOID:0060393 chromosome 15q11.2 deletion syndrome oboInOwl:hasDbXref ORDO:261183 semapv:UnspecifiedMatching DOID:0060393 chromosome 15q11.2 deletion syndrome oboInOwl:hasDbXref UMLS:C3180937 semapv:UnspecifiedMatching -DOID:0060393 chromosome 15q11.2 deletion syndrome skos:exactMatch OMIM:615656 semapv:UnspecifiedMatching DOID:0060394 chromosome 15q13.3 microdeletion syndrome oboInOwl:hasDbXref GARD:10296 semapv:UnspecifiedMatching DOID:0060394 chromosome 15q13.3 microdeletion syndrome oboInOwl:hasDbXref ICD10CM:Q93.5 semapv:UnspecifiedMatching DOID:0060394 chromosome 15q13.3 microdeletion syndrome oboInOwl:hasDbXref MESH:C567439 semapv:UnspecifiedMatching -DOID:0060394 chromosome 15q13.3 microdeletion syndrome oboInOwl:hasDbXref OMIM:612001 semapv:UnspecifiedMatching DOID:0060394 chromosome 15q13.3 microdeletion syndrome oboInOwl:hasDbXref ORDO:199318 semapv:UnspecifiedMatching -DOID:0060394 chromosome 15q13.3 microdeletion syndrome skos:exactMatch OMIM:612001 semapv:UnspecifiedMatching DOID:0060395 chromosome 15q24 deletion syndrome oboInOwl:hasDbXref GARD:12219 semapv:UnspecifiedMatching DOID:0060395 chromosome 15q24 deletion syndrome oboInOwl:hasDbXref ICD10CM:Q93.5 semapv:UnspecifiedMatching DOID:0060395 chromosome 15q24 deletion syndrome oboInOwl:hasDbXref MESH:C579849 semapv:UnspecifiedMatching -DOID:0060395 chromosome 15q24 deletion syndrome oboInOwl:hasDbXref OMIM:613406 semapv:UnspecifiedMatching DOID:0060395 chromosome 15q24 deletion syndrome oboInOwl:hasDbXref ORDO:94065 semapv:UnspecifiedMatching -DOID:0060395 chromosome 15q24 deletion syndrome skos:exactMatch OMIM:613406 semapv:UnspecifiedMatching -DOID:0060396 chromosome 15q25 deletion syndrome oboInOwl:hasDbXref OMIM:614294 semapv:UnspecifiedMatching -DOID:0060396 chromosome 15q25 deletion syndrome skos:exactMatch OMIM:614294 semapv:UnspecifiedMatching DOID:0060397 chromosome 15q26-qter deletion syndrome oboInOwl:hasDbXref ICD10CM:Q93.5 semapv:UnspecifiedMatching DOID:0060397 chromosome 15q26-qter deletion syndrome oboInOwl:hasDbXref MESH:C567232 semapv:UnspecifiedMatching -DOID:0060397 chromosome 15q26-qter deletion syndrome oboInOwl:hasDbXref OMIM:612626 semapv:UnspecifiedMatching DOID:0060397 chromosome 15q26-qter deletion syndrome oboInOwl:hasDbXref ORDO:1596 semapv:UnspecifiedMatching -DOID:0060397 chromosome 15q26-qter deletion syndrome skos:exactMatch OMIM:612626 semapv:UnspecifiedMatching -DOID:0060398 chromosome 16p11.2 deletion syndrome, 220-kb oboInOwl:hasDbXref OMIM:613444 semapv:UnspecifiedMatching DOID:0060398 chromosome 16p11.2 deletion syndrome, 220-kb oboInOwl:hasDbXref ORDO:261222 semapv:UnspecifiedMatching DOID:0060398 chromosome 16p11.2 deletion syndrome, 220-kb oboInOwl:hasDbXref UMLS:C3150701 semapv:UnspecifiedMatching DOID:0060398 chromosome 16p11.2 deletion syndrome, 220-kb oboInOwl:hasDbXref UMLS:C4518824 semapv:UnspecifiedMatching DOID:0060398 chromosome 16p11.2 deletion syndrome, 220-kb skos:broadMatch ICD10CM:Q93.5 semapv:UnspecifiedMatching -DOID:0060398 chromosome 16p11.2 deletion syndrome, 220-kb skos:exactMatch OMIM:613444 semapv:UnspecifiedMatching -DOID:0060398 chromosome 16p11.2 deletion syndrome, 220-kb skos:exactMatch OMIM:613444 semapv:UnspecifiedMatching DOID:0060398 chromosome 16p11.2 deletion syndrome, 220-kb skos:exactMatch ORDO:261222 semapv:UnspecifiedMatching DOID:0060398 chromosome 16p11.2 deletion syndrome, 220-kb skos:exactMatch UMLS:C3150701 semapv:UnspecifiedMatching DOID:0060398 chromosome 16p11.2 deletion syndrome, 220-kb skos:exactMatch UMLS:C4518824 semapv:UnspecifiedMatching -DOID:0060399 chromosome 16p12.1 deletion syndrome oboInOwl:hasDbXref OMIM:136570 semapv:UnspecifiedMatching -DOID:0060399 chromosome 16p12.1 deletion syndrome skos:exactMatch OMIM:136570 semapv:UnspecifiedMatching DOID:0060400 chromosome 16p12.2-p11.2 deletion syndrome oboInOwl:hasDbXref ICD10CM:Q93.5 semapv:UnspecifiedMatching -DOID:0060400 chromosome 16p12.2-p11.2 deletion syndrome oboInOwl:hasDbXref OMIM:613604 semapv:UnspecifiedMatching DOID:0060400 chromosome 16p12.2-p11.2 deletion syndrome oboInOwl:hasDbXref ORDO:261211 semapv:UnspecifiedMatching -DOID:0060400 chromosome 16p12.2-p11.2 deletion syndrome skos:exactMatch OMIM:613604 semapv:UnspecifiedMatching -DOID:0060401 chromosome 16q22 deletion syndrome oboInOwl:hasDbXref OMIM:614541 semapv:UnspecifiedMatching -DOID:0060401 chromosome 16q22 deletion syndrome skos:exactMatch OMIM:614541 semapv:UnspecifiedMatching DOID:0060402 chromosome 17p13.1 deletion syndrome oboInOwl:hasDbXref GARD:10996 semapv:UnspecifiedMatching DOID:0060402 chromosome 17p13.1 deletion syndrome oboInOwl:hasDbXref MESH:D054221 semapv:UnspecifiedMatching -DOID:0060402 chromosome 17p13.1 deletion syndrome oboInOwl:hasDbXref OMIM:613776 semapv:UnspecifiedMatching -DOID:0060402 chromosome 17p13.1 deletion syndrome skos:exactMatch OMIM:613776 semapv:UnspecifiedMatching DOID:0060403 chromosome 17q11.2 deletion syndrome oboInOwl:hasDbXref ICD10CM:Q85.0 semapv:UnspecifiedMatching DOID:0060403 chromosome 17q11.2 deletion syndrome oboInOwl:hasDbXref MESH:C563524 semapv:UnspecifiedMatching -DOID:0060403 chromosome 17q11.2 deletion syndrome oboInOwl:hasDbXref OMIM:613675 semapv:UnspecifiedMatching DOID:0060403 chromosome 17q11.2 deletion syndrome oboInOwl:hasDbXref ORDO:97685 semapv:UnspecifiedMatching -DOID:0060403 chromosome 17q11.2 deletion syndrome skos:exactMatch OMIM:613675 semapv:UnspecifiedMatching DOID:0060404 chromosome 17q12 deletion syndrome oboInOwl:hasDbXref GARD:13297 semapv:UnspecifiedMatching DOID:0060404 chromosome 17q12 deletion syndrome oboInOwl:hasDbXref ICD10CM:Q93.5 semapv:UnspecifiedMatching -DOID:0060404 chromosome 17q12 deletion syndrome oboInOwl:hasDbXref OMIM:614527 semapv:UnspecifiedMatching DOID:0060404 chromosome 17q12 deletion syndrome oboInOwl:hasDbXref ORDO:261265 semapv:UnspecifiedMatching -DOID:0060404 chromosome 17q12 deletion syndrome skos:exactMatch OMIM:614527 semapv:UnspecifiedMatching DOID:0060405 chromosome 17q23.1-q23.2 deletion syndrome oboInOwl:hasDbXref GARD:10936 semapv:UnspecifiedMatching DOID:0060405 chromosome 17q23.1-q23.2 deletion syndrome oboInOwl:hasDbXref ICD10CM:Q93.5 semapv:UnspecifiedMatching -DOID:0060405 chromosome 17q23.1-q23.2 deletion syndrome oboInOwl:hasDbXref OMIM:613355 semapv:UnspecifiedMatching DOID:0060405 chromosome 17q23.1-q23.2 deletion syndrome oboInOwl:hasDbXref ORDO:261279 semapv:UnspecifiedMatching -DOID:0060405 chromosome 17q23.1-q23.2 deletion syndrome skos:exactMatch OMIM:613355 semapv:UnspecifiedMatching DOID:0060406 chromosome 18p deletion syndrome oboInOwl:hasDbXref GARD:8631 semapv:UnspecifiedMatching DOID:0060406 chromosome 18p deletion syndrome oboInOwl:hasDbXref MESH:C538309 semapv:UnspecifiedMatching DOID:0060406 chromosome 18p deletion syndrome oboInOwl:hasDbXref NCI:C84521 semapv:UnspecifiedMatching -DOID:0060406 chromosome 18p deletion syndrome oboInOwl:hasDbXref OMIM:146390 semapv:UnspecifiedMatching DOID:0060406 chromosome 18p deletion syndrome oboInOwl:hasDbXref ORDO:1598 semapv:UnspecifiedMatching DOID:0060406 chromosome 18p deletion syndrome oboInOwl:hasDbXref UMLS:C0432442 semapv:UnspecifiedMatching -DOID:0060406 chromosome 18p deletion syndrome skos:exactMatch OMIM:146390 semapv:UnspecifiedMatching DOID:0060407 chromosome 18q deletion syndrome oboInOwl:hasDbXref ICD10CM:Q93.5 semapv:UnspecifiedMatching DOID:0060407 chromosome 18q deletion syndrome oboInOwl:hasDbXref MESH:C536580 semapv:UnspecifiedMatching -DOID:0060407 chromosome 18q deletion syndrome oboInOwl:hasDbXref OMIM:601808 semapv:UnspecifiedMatching DOID:0060407 chromosome 18q deletion syndrome oboInOwl:hasDbXref ORDO:1600 semapv:UnspecifiedMatching -DOID:0060407 chromosome 18q deletion syndrome skos:exactMatch OMIM:601808 semapv:UnspecifiedMatching DOID:0060408 chromosome 19q13.11 deletion syndrome oboInOwl:hasDbXref GARD:10592 semapv:UnspecifiedMatching DOID:0060408 chromosome 19q13.11 deletion syndrome oboInOwl:hasDbXref MESH:C567810 semapv:UnspecifiedMatching -DOID:0060408 chromosome 19q13.11 deletion syndrome oboInOwl:hasDbXref OMIM:613026 semapv:UnspecifiedMatching DOID:0060408 chromosome 19q13.11 deletion syndrome oboInOwl:hasDbXref ORDO:217346 semapv:UnspecifiedMatching DOID:0060408 chromosome 19q13.11 deletion syndrome oboInOwl:hasDbXref UMLS:C2751651 semapv:UnspecifiedMatching -DOID:0060408 chromosome 19q13.11 deletion syndrome skos:exactMatch OMIM:613026 semapv:UnspecifiedMatching DOID:0060409 NFIA-related disorder oboInOwl:hasDbXref ICD10CM:Q93.5 semapv:UnspecifiedMatching DOID:0060409 NFIA-related disorder oboInOwl:hasDbXref MESH:C535594 semapv:UnspecifiedMatching -DOID:0060409 NFIA-related disorder oboInOwl:hasDbXref OMIM:613735 semapv:UnspecifiedMatching DOID:0060409 NFIA-related disorder oboInOwl:hasDbXref ORDO:401986 semapv:UnspecifiedMatching -DOID:0060409 NFIA-related disorder skos:exactMatch OMIM:613735 semapv:UnspecifiedMatching DOID:0060410 chromosome 1p36 deletion syndrome oboInOwl:hasDbXref GARD:6082 semapv:UnspecifiedMatching DOID:0060410 chromosome 1p36 deletion syndrome oboInOwl:hasDbXref MESH:C535362 semapv:UnspecifiedMatching DOID:0060410 chromosome 1p36 deletion syndrome oboInOwl:hasDbXref NCI:C74983 semapv:UnspecifiedMatching -DOID:0060410 chromosome 1p36 deletion syndrome oboInOwl:hasDbXref OMIM:607872 semapv:UnspecifiedMatching DOID:0060410 chromosome 1p36 deletion syndrome oboInOwl:hasDbXref ORDO:1606 semapv:UnspecifiedMatching DOID:0060410 chromosome 1p36 deletion syndrome oboInOwl:hasDbXref UMLS:C1842870 semapv:UnspecifiedMatching -DOID:0060410 chromosome 1p36 deletion syndrome skos:exactMatch OMIM:607872 semapv:UnspecifiedMatching DOID:0060411 chromosome 1q21.1 deletion syndrome oboInOwl:hasDbXref GARD:10813 semapv:UnspecifiedMatching DOID:0060411 chromosome 1q21.1 deletion syndrome oboInOwl:hasDbXref ICD10CM:Q93.5 semapv:UnspecifiedMatching -DOID:0060411 chromosome 1q21.1 deletion syndrome oboInOwl:hasDbXref OMIM:612474 semapv:UnspecifiedMatching DOID:0060411 chromosome 1q21.1 deletion syndrome oboInOwl:hasDbXref ORDO:250989 semapv:UnspecifiedMatching -DOID:0060411 chromosome 1q21.1 deletion syndrome skos:exactMatch OMIM:612474 semapv:UnspecifiedMatching DOID:0060412 chromosome 1q41-q42 deletion syndrome oboInOwl:hasDbXref GARD:3738 semapv:UnspecifiedMatching DOID:0060412 chromosome 1q41-q42 deletion syndrome oboInOwl:hasDbXref ICD10CM:Q93.5 semapv:UnspecifiedMatching -DOID:0060412 chromosome 1q41-q42 deletion syndrome oboInOwl:hasDbXref OMIM:612530 semapv:UnspecifiedMatching DOID:0060412 chromosome 1q41-q42 deletion syndrome oboInOwl:hasDbXref ORDO:250999 semapv:UnspecifiedMatching -DOID:0060412 chromosome 1q41-q42 deletion syndrome skos:exactMatch OMIM:612530 semapv:UnspecifiedMatching DOID:0060413 chromosome 22q11.2 deletion syndrome, distal oboInOwl:hasDbXref MESH:C567511 semapv:UnspecifiedMatching -DOID:0060413 chromosome 22q11.2 deletion syndrome, distal oboInOwl:hasDbXref OMIM:611867 semapv:UnspecifiedMatching DOID:0060413 chromosome 22q11.2 deletion syndrome, distal oboInOwl:hasDbXref ORDO:261330 semapv:UnspecifiedMatching -DOID:0060413 chromosome 22q11.2 deletion syndrome, distal skos:exactMatch OMIM:611867 semapv:UnspecifiedMatching -DOID:0060414 chromosome 2p12-p11.2 deletion syndrome oboInOwl:hasDbXref OMIM:613564 semapv:UnspecifiedMatching -DOID:0060414 chromosome 2p12-p11.2 deletion syndrome skos:exactMatch OMIM:613564 semapv:UnspecifiedMatching DOID:0060415 chromosome 2p16.1-p15 deletion syndrome oboInOwl:hasDbXref GARD:13391 semapv:UnspecifiedMatching DOID:0060415 chromosome 2p16.1-p15 deletion syndrome oboInOwl:hasDbXref ICD10CM:Q93.5 semapv:UnspecifiedMatching DOID:0060415 chromosome 2p16.1-p15 deletion syndrome oboInOwl:hasDbXref MESH:C567289 semapv:UnspecifiedMatching -DOID:0060415 chromosome 2p16.1-p15 deletion syndrome oboInOwl:hasDbXref OMIM:612513 semapv:UnspecifiedMatching DOID:0060415 chromosome 2p16.1-p15 deletion syndrome oboInOwl:hasDbXref ORDO:261349 semapv:UnspecifiedMatching -DOID:0060415 chromosome 2p16.1-p15 deletion syndrome skos:exactMatch OMIM:612513 semapv:UnspecifiedMatching DOID:0060416 chromosome 2q31.2 deletion syndrome oboInOwl:hasDbXref MESH:C567344 semapv:UnspecifiedMatching -DOID:0060416 chromosome 2q31.2 deletion syndrome oboInOwl:hasDbXref OMIM:612345 semapv:UnspecifiedMatching -DOID:0060416 chromosome 2q31.2 deletion syndrome skos:exactMatch OMIM:612345 semapv:UnspecifiedMatching DOID:0060417 3p deletion syndrome oboInOwl:hasDbXref ICD10CM:Q93.5 semapv:UnspecifiedMatching -DOID:0060417 3p deletion syndrome oboInOwl:hasDbXref OMIM:613792 semapv:UnspecifiedMatching DOID:0060417 3p deletion syndrome oboInOwl:hasDbXref ORDO:1620 semapv:UnspecifiedMatching -DOID:0060417 3p deletion syndrome skos:exactMatch OMIM:613792 semapv:UnspecifiedMatching DOID:0060418 chromosome 3q13.31 deletion syndrome oboInOwl:hasDbXref MESH:C536808 semapv:UnspecifiedMatching -DOID:0060418 chromosome 3q13.31 deletion syndrome oboInOwl:hasDbXref OMIM:615433 semapv:UnspecifiedMatching DOID:0060418 chromosome 3q13.31 deletion syndrome oboInOwl:hasDbXref ORDO:1621 semapv:UnspecifiedMatching DOID:0060418 chromosome 3q13.31 deletion syndrome oboInOwl:hasDbXref UMLS:C2931338 semapv:UnspecifiedMatching -DOID:0060418 chromosome 3q13.31 deletion syndrome skos:exactMatch OMIM:615433 semapv:UnspecifiedMatching DOID:0060419 chromosome 3q29 microdeletion syndrome oboInOwl:hasDbXref GARD:11974 semapv:UnspecifiedMatching DOID:0060419 chromosome 3q29 microdeletion syndrome oboInOwl:hasDbXref MESH:C567184 semapv:UnspecifiedMatching -DOID:0060419 chromosome 3q29 microdeletion syndrome oboInOwl:hasDbXref OMIM:609425 semapv:UnspecifiedMatching DOID:0060419 chromosome 3q29 microdeletion syndrome oboInOwl:hasDbXref ORDO:65286 semapv:UnspecifiedMatching -DOID:0060419 chromosome 3q29 microdeletion syndrome skos:exactMatch OMIM:609425 semapv:UnspecifiedMatching -DOID:0060420 chromosome 4q21 deletion syndrome oboInOwl:hasDbXref OMIM:613509 semapv:UnspecifiedMatching DOID:0060420 chromosome 4q21 deletion syndrome oboInOwl:hasDbXref ORDO:238750 semapv:UnspecifiedMatching -DOID:0060420 chromosome 4q21 deletion syndrome skos:exactMatch OMIM:613509 semapv:UnspecifiedMatching -DOID:0060421 chromosome 5q12 deletion syndrome oboInOwl:hasDbXref OMIM:615668 semapv:UnspecifiedMatching -DOID:0060421 chromosome 5q12 deletion syndrome skos:exactMatch OMIM:615668 semapv:UnspecifiedMatching DOID:0060422 chromosome 6pter-p24 deletion syndrome oboInOwl:hasDbXref ICD10CM:Q93.5 semapv:UnspecifiedMatching DOID:0060422 chromosome 6pter-p24 deletion syndrome oboInOwl:hasDbXref MESH:C567239 semapv:UnspecifiedMatching -DOID:0060422 chromosome 6pter-p24 deletion syndrome oboInOwl:hasDbXref OMIM:612582 semapv:UnspecifiedMatching DOID:0060422 chromosome 6pter-p24 deletion syndrome oboInOwl:hasDbXref ORDO:96125 semapv:UnspecifiedMatching -DOID:0060422 chromosome 6pter-p24 deletion syndrome skos:exactMatch OMIM:612582 semapv:UnspecifiedMatching -DOID:0060423 chromosome 6q11-q14 deletion syndrome oboInOwl:hasDbXref OMIM:613544 semapv:UnspecifiedMatching -DOID:0060423 chromosome 6q11-q14 deletion syndrome skos:exactMatch OMIM:613544 semapv:UnspecifiedMatching -DOID:0060424 chromosome 6q24-q25 deletion syndrome oboInOwl:hasDbXref OMIM:612863 semapv:UnspecifiedMatching DOID:0060424 chromosome 6q24-q25 deletion syndrome oboInOwl:hasDbXref ORDO:251056 semapv:UnspecifiedMatching -DOID:0060424 chromosome 6q24-q25 deletion syndrome skos:exactMatch OMIM:612863 semapv:UnspecifiedMatching DOID:0060425 chromosome 8q21.11 deletion syndrome oboInOwl:hasDbXref ICD10CM:Q93.5 semapv:UnspecifiedMatching -DOID:0060425 chromosome 8q21.11 deletion syndrome oboInOwl:hasDbXref OMIM:614230 semapv:UnspecifiedMatching DOID:0060425 chromosome 8q21.11 deletion syndrome oboInOwl:hasDbXref ORDO:284160 semapv:UnspecifiedMatching -DOID:0060425 chromosome 8q21.11 deletion syndrome skos:exactMatch OMIM:614230 semapv:UnspecifiedMatching -DOID:0060426 chromosome 19p13.13 deletion syndrome oboInOwl:hasDbXref OMIM:613638 semapv:UnspecifiedMatching -DOID:0060426 chromosome 19p13.13 deletion syndrome skos:exactMatch OMIM:613638 semapv:UnspecifiedMatching DOID:0060427 chromosome Xp21 deletion syndrome oboInOwl:hasDbXref ICD10CM:Q99.8 semapv:UnspecifiedMatching -DOID:0060427 chromosome Xp21 deletion syndrome oboInOwl:hasDbXref OMIM:300679 semapv:UnspecifiedMatching DOID:0060427 chromosome Xp21 deletion syndrome oboInOwl:hasDbXref ORDO:261476 semapv:UnspecifiedMatching -DOID:0060427 chromosome Xp21 deletion syndrome skos:exactMatch OMIM:300679 semapv:UnspecifiedMatching DOID:0060428 SATB2-associated syndrome oboInOwl:hasDbXref ICD10CM:Q93.5 semapv:UnspecifiedMatching DOID:0060428 SATB2-associated syndrome oboInOwl:hasDbXref MESH:C567350 semapv:UnspecifiedMatching -DOID:0060428 SATB2-associated syndrome oboInOwl:hasDbXref OMIM:612313 semapv:UnspecifiedMatching DOID:0060428 SATB2-associated syndrome oboInOwl:hasDbXref ORDO:251019 semapv:UnspecifiedMatching -DOID:0060428 SATB2-associated syndrome skos:exactMatch OMIM:612313 semapv:UnspecifiedMatching DOID:0060430 chromosome 16p11.2 duplication syndrome oboInOwl:hasDbXref ICD10CM:Q92.3 semapv:UnspecifiedMatching -DOID:0060430 chromosome 16p11.2 duplication syndrome oboInOwl:hasDbXref OMIM:614671 semapv:UnspecifiedMatching DOID:0060430 chromosome 16p11.2 duplication syndrome oboInOwl:hasDbXref ORDO:370079 semapv:UnspecifiedMatching -DOID:0060430 chromosome 16p11.2 duplication syndrome skos:exactMatch OMIM:614671 semapv:UnspecifiedMatching DOID:0060431 chromosome 16p13.3 duplication syndrome oboInOwl:hasDbXref ICD10CM:Q92.3 semapv:UnspecifiedMatching -DOID:0060431 chromosome 16p13.3 duplication syndrome oboInOwl:hasDbXref OMIM:613458 semapv:UnspecifiedMatching DOID:0060431 chromosome 16p13.3 duplication syndrome oboInOwl:hasDbXref ORDO:96078 semapv:UnspecifiedMatching -DOID:0060431 chromosome 16p13.3 duplication syndrome skos:exactMatch OMIM:613458 semapv:UnspecifiedMatching DOID:0060432 chromosome 17p13.3 duplication syndrome oboInOwl:hasDbXref ICD10CM:Q92.3 semapv:UnspecifiedMatching DOID:0060432 chromosome 17p13.3 duplication syndrome oboInOwl:hasDbXref MESH:C567705 semapv:UnspecifiedMatching -DOID:0060432 chromosome 17p13.3 duplication syndrome oboInOwl:hasDbXref OMIM:613215 semapv:UnspecifiedMatching DOID:0060432 chromosome 17p13.3 duplication syndrome oboInOwl:hasDbXref ORDO:217385 semapv:UnspecifiedMatching -DOID:0060432 chromosome 17p13.3 duplication syndrome skos:exactMatch OMIM:613215 semapv:UnspecifiedMatching DOID:0060433 chromosome 17q12 duplication syndrome oboInOwl:hasDbXref GARD:13296 semapv:UnspecifiedMatching DOID:0060433 chromosome 17q12 duplication syndrome oboInOwl:hasDbXref ICD10CM:Q92.3 semapv:UnspecifiedMatching -DOID:0060433 chromosome 17q12 duplication syndrome oboInOwl:hasDbXref OMIM:614526 semapv:UnspecifiedMatching DOID:0060433 chromosome 17q12 duplication syndrome oboInOwl:hasDbXref ORDO:261272 semapv:UnspecifiedMatching -DOID:0060433 chromosome 17q12 duplication syndrome skos:exactMatch OMIM:614526 semapv:UnspecifiedMatching DOID:0060434 chromosome 17q21.31 duplication syndrome oboInOwl:hasDbXref ICD10CM:Q92.3 semapv:UnspecifiedMatching -DOID:0060434 chromosome 17q21.31 duplication syndrome oboInOwl:hasDbXref OMIM:613533 semapv:UnspecifiedMatching DOID:0060434 chromosome 17q21.31 duplication syndrome oboInOwl:hasDbXref ORDO:217340 semapv:UnspecifiedMatching -DOID:0060434 chromosome 17q21.31 duplication syndrome skos:exactMatch OMIM:613533 semapv:UnspecifiedMatching DOID:0060435 chromosome 1q21.1 duplication syndrome oboInOwl:hasDbXref GARD:10591 semapv:UnspecifiedMatching DOID:0060435 chromosome 1q21.1 duplication syndrome oboInOwl:hasDbXref ICD10CM:Q92.3 semapv:UnspecifiedMatching DOID:0060435 chromosome 1q21.1 duplication syndrome oboInOwl:hasDbXref MESH:C567290 semapv:UnspecifiedMatching -DOID:0060435 chromosome 1q21.1 duplication syndrome oboInOwl:hasDbXref OMIM:612475 semapv:UnspecifiedMatching DOID:0060435 chromosome 1q21.1 duplication syndrome oboInOwl:hasDbXref ORDO:250994 semapv:UnspecifiedMatching -DOID:0060435 chromosome 1q21.1 duplication syndrome skos:exactMatch OMIM:612475 semapv:UnspecifiedMatching DOID:0060436 chromosome 22q11.2 microduplication syndrome oboInOwl:hasDbXref ICD10CM:Q92.3 semapv:UnspecifiedMatching DOID:0060436 chromosome 22q11.2 microduplication syndrome oboInOwl:hasDbXref MESH:C567224 semapv:UnspecifiedMatching -DOID:0060436 chromosome 22q11.2 microduplication syndrome oboInOwl:hasDbXref OMIM:608363 semapv:UnspecifiedMatching DOID:0060436 chromosome 22q11.2 microduplication syndrome oboInOwl:hasDbXref ORDO:1727 semapv:UnspecifiedMatching -DOID:0060436 chromosome 22q11.2 microduplication syndrome skos:exactMatch OMIM:608363 semapv:UnspecifiedMatching -DOID:0060437 chromosome 22q13 duplication syndrome oboInOwl:hasDbXref OMIM:615538 semapv:UnspecifiedMatching -DOID:0060437 chromosome 22q13 duplication syndrome skos:exactMatch OMIM:615538 semapv:UnspecifiedMatching DOID:0060438 Cole-Carpenter syndrome oboInOwl:hasDbXref MESH:C535963 semapv:UnspecifiedMatching DOID:0060438 Cole-Carpenter syndrome oboInOwl:hasDbXref NCI:C130985 semapv:UnspecifiedMatching -DOID:0060438 Cole-Carpenter syndrome oboInOwl:hasDbXref OMIM:112240 semapv:UnspecifiedMatching -DOID:0060438 Cole-Carpenter syndrome oboInOwl:hasDbXref OMIM:616294 semapv:UnspecifiedMatching DOID:0060438 Cole-Carpenter syndrome oboInOwl:hasDbXref ORDO:2050 semapv:UnspecifiedMatching DOID:0060439 lysinuric protein intolerance oboInOwl:hasDbXref GARD:3335 semapv:UnspecifiedMatching DOID:0060439 lysinuric protein intolerance oboInOwl:hasDbXref MESH:C562687 semapv:UnspecifiedMatching DOID:0060439 lysinuric protein intolerance oboInOwl:hasDbXref NCI:C121563 semapv:UnspecifiedMatching -DOID:0060439 lysinuric protein intolerance oboInOwl:hasDbXref OMIM:222700 semapv:UnspecifiedMatching DOID:0060439 lysinuric protein intolerance oboInOwl:hasDbXref ORDO:470 semapv:UnspecifiedMatching DOID:0060439 lysinuric protein intolerance oboInOwl:hasDbXref UMLS:C0268647 semapv:UnspecifiedMatching -DOID:0060439 lysinuric protein intolerance skos:exactMatch OMIM:222700 semapv:UnspecifiedMatching DOID:0060444 granular corneal dystrophy 2 oboInOwl:hasDbXref MESH:C535474 semapv:UnspecifiedMatching -DOID:0060444 granular corneal dystrophy 2 oboInOwl:hasDbXref OMIM:607541 semapv:UnspecifiedMatching DOID:0060444 granular corneal dystrophy 2 oboInOwl:hasDbXref ORDO:98963 semapv:UnspecifiedMatching DOID:0060444 granular corneal dystrophy 2 oboInOwl:hasDbXref UMLS:C1275685 semapv:UnspecifiedMatching -DOID:0060444 granular corneal dystrophy 2 skos:exactMatch OMIM:607541 semapv:UnspecifiedMatching DOID:0060445 congenital stromal corneal dystrophy oboInOwl:hasDbXref ICD10CM:H18.5 semapv:UnspecifiedMatching DOID:0060445 congenital stromal corneal dystrophy oboInOwl:hasDbXref MESH:C566452 semapv:UnspecifiedMatching -DOID:0060445 congenital stromal corneal dystrophy oboInOwl:hasDbXref OMIM:610048 semapv:UnspecifiedMatching DOID:0060445 congenital stromal corneal dystrophy oboInOwl:hasDbXref ORDO:101068 semapv:UnspecifiedMatching -DOID:0060445 congenital stromal corneal dystrophy skos:exactMatch OMIM:610048 semapv:UnspecifiedMatching DOID:0060446 X-linked endothelial corneal dystrophy oboInOwl:hasDbXref ICD10CM:H18.5 semapv:UnspecifiedMatching DOID:0060446 X-linked endothelial corneal dystrophy oboInOwl:hasDbXref MESH:C567587 semapv:UnspecifiedMatching -DOID:0060446 X-linked endothelial corneal dystrophy oboInOwl:hasDbXref OMIM:300779 semapv:UnspecifiedMatching DOID:0060446 X-linked endothelial corneal dystrophy oboInOwl:hasDbXref ORDO:293621 semapv:UnspecifiedMatching -DOID:0060446 X-linked endothelial corneal dystrophy skos:exactMatch OMIM:300779 semapv:UnspecifiedMatching DOID:0060447 epithelial basement membrane dystrophy oboInOwl:hasDbXref ICD10CM:H18.5 semapv:UnspecifiedMatching DOID:0060447 epithelial basement membrane dystrophy oboInOwl:hasDbXref MESH:C535477 semapv:UnspecifiedMatching -DOID:0060447 epithelial basement membrane dystrophy oboInOwl:hasDbXref OMIM:121820 semapv:UnspecifiedMatching DOID:0060447 epithelial basement membrane dystrophy oboInOwl:hasDbXref ORDO:98956 semapv:UnspecifiedMatching -DOID:0060447 epithelial basement membrane dystrophy skos:exactMatch OMIM:121820 semapv:UnspecifiedMatching DOID:0060448 Fleck corneal dystrophy oboInOwl:hasDbXref MESH:C563256 semapv:UnspecifiedMatching -DOID:0060448 Fleck corneal dystrophy oboInOwl:hasDbXref OMIM:121850 semapv:UnspecifiedMatching DOID:0060448 Fleck corneal dystrophy oboInOwl:hasDbXref ORDO:98970 semapv:UnspecifiedMatching DOID:0060448 Fleck corneal dystrophy oboInOwl:hasDbXref UMLS:C1562113 semapv:UnspecifiedMatching -DOID:0060448 Fleck corneal dystrophy skos:exactMatch OMIM:121850 semapv:UnspecifiedMatching DOID:0060449 gelatinous drop-like corneal dystrophy oboInOwl:hasDbXref MESH:C535480 semapv:UnspecifiedMatching DOID:0060449 gelatinous drop-like corneal dystrophy oboInOwl:hasDbXref NCI:C142805 semapv:UnspecifiedMatching -DOID:0060449 gelatinous drop-like corneal dystrophy oboInOwl:hasDbXref OMIM:204870 semapv:UnspecifiedMatching DOID:0060449 gelatinous drop-like corneal dystrophy oboInOwl:hasDbXref ORDO:98957 semapv:UnspecifiedMatching DOID:0060449 gelatinous drop-like corneal dystrophy oboInOwl:hasDbXref UMLS:C0339273 semapv:UnspecifiedMatching -DOID:0060449 gelatinous drop-like corneal dystrophy skos:exactMatch OMIM:204870 semapv:UnspecifiedMatching DOID:0060450 Lisch epithelial corneal dystrophy oboInOwl:hasDbXref ICD10CM:H18.5 semapv:UnspecifiedMatching DOID:0060450 Lisch epithelial corneal dystrophy oboInOwl:hasDbXref MESH:C567588 semapv:UnspecifiedMatching -DOID:0060450 Lisch epithelial corneal dystrophy oboInOwl:hasDbXref OMIM:620763 semapv:UnspecifiedMatching DOID:0060450 Lisch epithelial corneal dystrophy oboInOwl:hasDbXref ORDO:98955 semapv:UnspecifiedMatching -DOID:0060450 Lisch epithelial corneal dystrophy skos:exactMatch OMIM:620763 semapv:UnspecifiedMatching DOID:0060451 Meesmann corneal dystrophy oboInOwl:hasDbXref GARD:9688 semapv:UnspecifiedMatching DOID:0060451 Meesmann corneal dystrophy oboInOwl:hasDbXref ICD10CM:H18.52 semapv:UnspecifiedMatching DOID:0060451 Meesmann corneal dystrophy oboInOwl:hasDbXref ICD9CM:371.51 semapv:UnspecifiedMatching DOID:0060451 Meesmann corneal dystrophy oboInOwl:hasDbXref MESH:D053559 semapv:UnspecifiedMatching DOID:0060451 Meesmann corneal dystrophy oboInOwl:hasDbXref NCI:C84795 semapv:UnspecifiedMatching -DOID:0060451 Meesmann corneal dystrophy oboInOwl:hasDbXref OMIMPS:122100 semapv:UnspecifiedMatching DOID:0060451 Meesmann corneal dystrophy oboInOwl:hasDbXref ORDO:98954 semapv:UnspecifiedMatching DOID:0060451 Meesmann corneal dystrophy oboInOwl:hasDbXref UMLS:C0339277 semapv:UnspecifiedMatching -DOID:0060451 Meesmann corneal dystrophy skos:exactMatch OMIMPS:122100 semapv:UnspecifiedMatching DOID:0060452 posterior amorphous corneal dystrophy oboInOwl:hasDbXref ICD10CM:H18.5 semapv:UnspecifiedMatching DOID:0060452 posterior amorphous corneal dystrophy oboInOwl:hasDbXref MESH:C567546 semapv:UnspecifiedMatching -DOID:0060452 posterior amorphous corneal dystrophy oboInOwl:hasDbXref OMIM:612868 semapv:UnspecifiedMatching DOID:0060452 posterior amorphous corneal dystrophy oboInOwl:hasDbXref ORDO:98971 semapv:UnspecifiedMatching -DOID:0060452 posterior amorphous corneal dystrophy skos:exactMatch OMIM:612868 semapv:UnspecifiedMatching DOID:0060453 Reis-Bucklers corneal dystrophy oboInOwl:hasDbXref MESH:C535476 semapv:UnspecifiedMatching -DOID:0060453 Reis-Bucklers corneal dystrophy oboInOwl:hasDbXref OMIM:608470 semapv:UnspecifiedMatching DOID:0060453 Reis-Bucklers corneal dystrophy oboInOwl:hasDbXref ORDO:98961 semapv:UnspecifiedMatching DOID:0060453 Reis-Bucklers corneal dystrophy oboInOwl:hasDbXref UMLS:C0339278 semapv:UnspecifiedMatching -DOID:0060453 Reis-Bucklers corneal dystrophy skos:exactMatch OMIM:608470 semapv:UnspecifiedMatching DOID:0060454 subepithelial mucinous corneal dystrophy oboInOwl:hasDbXref ICD10CM:H18.5 semapv:UnspecifiedMatching DOID:0060454 subepithelial mucinous corneal dystrophy oboInOwl:hasDbXref MESH:C567547 semapv:UnspecifiedMatching -DOID:0060454 subepithelial mucinous corneal dystrophy oboInOwl:hasDbXref OMIM:612867 semapv:UnspecifiedMatching DOID:0060454 subepithelial mucinous corneal dystrophy oboInOwl:hasDbXref ORDO:98959 semapv:UnspecifiedMatching -DOID:0060454 subepithelial mucinous corneal dystrophy skos:exactMatch OMIM:612867 semapv:UnspecifiedMatching DOID:0060455 Thiel-Behnke corneal dystrophy oboInOwl:hasDbXref MESH:C535942 semapv:UnspecifiedMatching -DOID:0060455 Thiel-Behnke corneal dystrophy oboInOwl:hasDbXref OMIM:602082 semapv:UnspecifiedMatching DOID:0060455 Thiel-Behnke corneal dystrophy oboInOwl:hasDbXref ORDO:98960 semapv:UnspecifiedMatching DOID:0060455 Thiel-Behnke corneal dystrophy oboInOwl:hasDbXref UMLS:C1562894 semapv:UnspecifiedMatching -DOID:0060455 Thiel-Behnke corneal dystrophy skos:exactMatch OMIM:602082 semapv:UnspecifiedMatching DOID:0060456 Schnyder corneal dystrophy oboInOwl:hasDbXref GARD:9277 semapv:UnspecifiedMatching DOID:0060456 Schnyder corneal dystrophy oboInOwl:hasDbXref MESH:C535475 semapv:UnspecifiedMatching -DOID:0060456 Schnyder corneal dystrophy oboInOwl:hasDbXref OMIM:121800 semapv:UnspecifiedMatching DOID:0060456 Schnyder corneal dystrophy oboInOwl:hasDbXref ORDO:98967 semapv:UnspecifiedMatching DOID:0060456 Schnyder corneal dystrophy oboInOwl:hasDbXref UMLS:C0271287 semapv:UnspecifiedMatching -DOID:0060456 Schnyder corneal dystrophy skos:exactMatch OMIM:121800 semapv:UnspecifiedMatching DOID:0060457 posterior polymorphous corneal dystrophy oboInOwl:hasDbXref ICD10CM:H18.5 semapv:UnspecifiedMatching DOID:0060457 posterior polymorphous corneal dystrophy oboInOwl:hasDbXref MESH:C562745 semapv:UnspecifiedMatching -DOID:0060457 posterior polymorphous corneal dystrophy oboInOwl:hasDbXref OMIMPS:122000 semapv:UnspecifiedMatching DOID:0060457 posterior polymorphous corneal dystrophy oboInOwl:hasDbXref ORDO:98973 semapv:UnspecifiedMatching -DOID:0060457 posterior polymorphous corneal dystrophy skos:exactMatch OMIMPS:122000 semapv:UnspecifiedMatching -DOID:0060458 chromosome 2q31.1 duplication syndrome oboInOwl:hasDbXref OMIM:613681 semapv:UnspecifiedMatching -DOID:0060458 chromosome 2q31.1 duplication syndrome skos:exactMatch OMIM:613681 semapv:UnspecifiedMatching DOID:0060459 chromosome 3q29 microduplication syndrome oboInOwl:hasDbXref GARD:10360 semapv:UnspecifiedMatching DOID:0060459 chromosome 3q29 microduplication syndrome oboInOwl:hasDbXref ICD10CM:Q92.3 semapv:UnspecifiedMatching DOID:0060459 chromosome 3q29 microduplication syndrome oboInOwl:hasDbXref MESH:C567626 semapv:UnspecifiedMatching -DOID:0060459 chromosome 3q29 microduplication syndrome oboInOwl:hasDbXref OMIM:611936 semapv:UnspecifiedMatching DOID:0060459 chromosome 3q29 microduplication syndrome oboInOwl:hasDbXref ORDO:251038 semapv:UnspecifiedMatching -DOID:0060459 chromosome 3q29 microduplication syndrome skos:exactMatch OMIM:611936 semapv:UnspecifiedMatching DOID:0060460 chromosome 5p13 duplication syndrome oboInOwl:hasDbXref ICD10CM:Q92.3 semapv:UnspecifiedMatching DOID:0060460 chromosome 5p13 duplication syndrome oboInOwl:hasDbXref MESH:C567717 semapv:UnspecifiedMatching -DOID:0060460 chromosome 5p13 duplication syndrome oboInOwl:hasDbXref OMIM:613174 semapv:UnspecifiedMatching DOID:0060460 chromosome 5p13 duplication syndrome oboInOwl:hasDbXref ORDO:329802 semapv:UnspecifiedMatching -DOID:0060460 chromosome 5p13 duplication syndrome skos:exactMatch OMIM:613174 semapv:UnspecifiedMatching DOID:0060461 chromosome Xp11.23-p11.22 duplication syndrome oboInOwl:hasDbXref ICD10CM:Q99.8 semapv:UnspecifiedMatching DOID:0060461 chromosome Xp11.23-p11.22 duplication syndrome oboInOwl:hasDbXref MESH:C567585 semapv:UnspecifiedMatching -DOID:0060461 chromosome Xp11.23-p11.22 duplication syndrome oboInOwl:hasDbXref OMIM:300801 semapv:UnspecifiedMatching DOID:0060461 chromosome Xp11.23-p11.22 duplication syndrome oboInOwl:hasDbXref ORDO:217377 semapv:UnspecifiedMatching -DOID:0060461 chromosome Xp11.23-p11.22 duplication syndrome skos:exactMatch OMIM:300801 semapv:UnspecifiedMatching DOID:0060462 Desbuquois dysplasia oboInOwl:hasDbXref GARD:1818 semapv:UnspecifiedMatching DOID:0060462 Desbuquois dysplasia oboInOwl:hasDbXref MESH:C535943 semapv:UnspecifiedMatching DOID:0060462 Desbuquois dysplasia oboInOwl:hasDbXref NCI:C124056 semapv:UnspecifiedMatching -DOID:0060462 Desbuquois dysplasia oboInOwl:hasDbXref OMIM:251450 semapv:UnspecifiedMatching -DOID:0060462 Desbuquois dysplasia oboInOwl:hasDbXref OMIM:615777 semapv:UnspecifiedMatching DOID:0060462 Desbuquois dysplasia oboInOwl:hasDbXref ORDO:1425 semapv:UnspecifiedMatching DOID:0060462 Desbuquois dysplasia oboInOwl:hasDbXref UMLS:C0432242 semapv:UnspecifiedMatching DOID:0060463 NUT midline carcinoma oboInOwl:hasDbXref NCI:C45716 semapv:UnspecifiedMatching @@ -3237,234 +2034,138 @@ DOID:0060463 NUT midline carcinoma oboInOwl:hasDbXref UMLS:C1707291 semapv:Unspe DOID:0060464 Feingold syndrome oboInOwl:hasDbXref GARD:8407 semapv:UnspecifiedMatching DOID:0060464 Feingold syndrome oboInOwl:hasDbXref ICD10CM:Q87.8 semapv:UnspecifiedMatching DOID:0060464 Feingold syndrome oboInOwl:hasDbXref MESH:C537734 semapv:UnspecifiedMatching -DOID:0060464 Feingold syndrome oboInOwl:hasDbXref OMIM:164280 semapv:UnspecifiedMatching -DOID:0060464 Feingold syndrome oboInOwl:hasDbXref OMIM:614326 semapv:UnspecifiedMatching DOID:0060464 Feingold syndrome oboInOwl:hasDbXref ORDO:1305 semapv:UnspecifiedMatching DOID:0060465 fibrochondrogenesis oboInOwl:hasDbXref GARD:2321 semapv:UnspecifiedMatching DOID:0060465 fibrochondrogenesis oboInOwl:hasDbXref MESH:C562524 semapv:UnspecifiedMatching -DOID:0060465 fibrochondrogenesis oboInOwl:hasDbXref OMIMPS:228520 semapv:UnspecifiedMatching DOID:0060465 fibrochondrogenesis oboInOwl:hasDbXref ORDO:2021 semapv:UnspecifiedMatching DOID:0060465 fibrochondrogenesis oboInOwl:hasDbXref UMLS:C0265282 semapv:UnspecifiedMatching -DOID:0060465 fibrochondrogenesis skos:exactMatch OMIMPS:228520 semapv:UnspecifiedMatching DOID:0060466 gingival fibromatosis oboInOwl:hasDbXref MESH:C562884 semapv:UnspecifiedMatching -DOID:0060466 gingival fibromatosis oboInOwl:hasDbXref OMIM:135300 semapv:UnspecifiedMatching -DOID:0060466 gingival fibromatosis oboInOwl:hasDbXref OMIM:605544 semapv:UnspecifiedMatching -DOID:0060466 gingival fibromatosis oboInOwl:hasDbXref OMIM:609955 semapv:UnspecifiedMatching -DOID:0060466 gingival fibromatosis oboInOwl:hasDbXref OMIM:611010 semapv:UnspecifiedMatching DOID:0060466 gingival fibromatosis oboInOwl:hasDbXref ORDO:2024 semapv:UnspecifiedMatching DOID:0060466 gingival fibromatosis oboInOwl:hasDbXref UMLS:C0399440 semapv:UnspecifiedMatching DOID:0060467 humeroradial synostosis oboInOwl:hasDbXref GARD:2748 semapv:UnspecifiedMatching DOID:0060467 humeroradial synostosis oboInOwl:hasDbXref MESH:C535284 semapv:UnspecifiedMatching -DOID:0060467 humeroradial synostosis oboInOwl:hasDbXref OMIM:143050 semapv:UnspecifiedMatching -DOID:0060467 humeroradial synostosis oboInOwl:hasDbXref OMIM:236400 semapv:UnspecifiedMatching DOID:0060467 humeroradial synostosis oboInOwl:hasDbXref ORDO:3265 semapv:UnspecifiedMatching DOID:0060468 Holt-Oram syndrome oboInOwl:hasDbXref GARD:6666 semapv:UnspecifiedMatching DOID:0060468 Holt-Oram syndrome oboInOwl:hasDbXref ICD10CM:Q87.2 semapv:UnspecifiedMatching DOID:0060468 Holt-Oram syndrome oboInOwl:hasDbXref MESH:C535326 semapv:UnspecifiedMatching DOID:0060468 Holt-Oram syndrome oboInOwl:hasDbXref NCI:C125592 semapv:UnspecifiedMatching -DOID:0060468 Holt-Oram syndrome oboInOwl:hasDbXref OMIM:142900 semapv:UnspecifiedMatching DOID:0060468 Holt-Oram syndrome oboInOwl:hasDbXref ORDO:392 semapv:UnspecifiedMatching DOID:0060468 Holt-Oram syndrome oboInOwl:hasDbXref UMLS:C0265264 semapv:UnspecifiedMatching -DOID:0060468 Holt-Oram syndrome skos:exactMatch OMIM:142900 semapv:UnspecifiedMatching DOID:0060469 Miller-Dieker lissencephaly syndrome oboInOwl:hasDbXref ICD10CM:Q93.88 semapv:UnspecifiedMatching DOID:0060469 Miller-Dieker lissencephaly syndrome oboInOwl:hasDbXref MESH:D054221 semapv:UnspecifiedMatching DOID:0060469 Miller-Dieker lissencephaly syndrome oboInOwl:hasDbXref NCI:C124852 semapv:UnspecifiedMatching -DOID:0060469 Miller-Dieker lissencephaly syndrome oboInOwl:hasDbXref OMIM:247200 semapv:UnspecifiedMatching DOID:0060469 Miller-Dieker lissencephaly syndrome oboInOwl:hasDbXref ORDO:531 semapv:UnspecifiedMatching DOID:0060469 Miller-Dieker lissencephaly syndrome oboInOwl:hasDbXref UMLS:C0265219 semapv:UnspecifiedMatching -DOID:0060469 Miller-Dieker lissencephaly syndrome skos:exactMatch OMIM:247200 semapv:UnspecifiedMatching -DOID:0060470 salt and pepper syndrome oboInOwl:hasDbXref OMIM:609056 semapv:UnspecifiedMatching DOID:0060470 salt and pepper syndrome oboInOwl:hasDbXref ORDO:370938 semapv:UnspecifiedMatching -DOID:0060470 salt and pepper syndrome skos:exactMatch OMIM:609056 semapv:UnspecifiedMatching DOID:0060471 fetal valproate syndrome oboInOwl:hasDbXref MESH:C536525 semapv:UnspecifiedMatching DOID:0060471 fetal valproate syndrome oboInOwl:hasDbXref NCI:C98930 semapv:UnspecifiedMatching -DOID:0060471 fetal valproate syndrome oboInOwl:hasDbXref OMIM:609442 semapv:UnspecifiedMatching DOID:0060471 fetal valproate syndrome oboInOwl:hasDbXref ORDO:1906 semapv:UnspecifiedMatching DOID:0060471 fetal valproate syndrome oboInOwl:hasDbXref UMLS:C0236026 semapv:UnspecifiedMatching -DOID:0060471 fetal valproate syndrome skos:exactMatch OMIM:609442 semapv:UnspecifiedMatching DOID:0060472 Kindler syndrome oboInOwl:hasDbXref GARD:4391 semapv:UnspecifiedMatching DOID:0060472 Kindler syndrome oboInOwl:hasDbXref MESH:C536321 semapv:UnspecifiedMatching -DOID:0060472 Kindler syndrome oboInOwl:hasDbXref OMIM:173650 semapv:UnspecifiedMatching DOID:0060472 Kindler syndrome oboInOwl:hasDbXref ORDO:306539 semapv:UnspecifiedMatching -DOID:0060472 Kindler syndrome skos:exactMatch OMIM:173650 semapv:UnspecifiedMatching DOID:0060473 Kabuki syndrome oboInOwl:hasDbXref GARD:6810 semapv:UnspecifiedMatching DOID:0060473 Kabuki syndrome oboInOwl:hasDbXref MESH:C537705 semapv:UnspecifiedMatching DOID:0060473 Kabuki syndrome oboInOwl:hasDbXref NCI:C124837 semapv:UnspecifiedMatching -DOID:0060473 Kabuki syndrome oboInOwl:hasDbXref OMIM:147920 semapv:UnspecifiedMatching -DOID:0060473 Kabuki syndrome oboInOwl:hasDbXref OMIM:300867 semapv:UnspecifiedMatching DOID:0060473 Kabuki syndrome oboInOwl:hasDbXref ORDO:2322 semapv:UnspecifiedMatching DOID:0060473 Kabuki syndrome oboInOwl:hasDbXref UMLS:C0796004 semapv:UnspecifiedMatching DOID:0060474 familial erythrocytosis 2 oboInOwl:hasDbXref ICD10CM:D75.1 semapv:UnspecifiedMatching -DOID:0060474 familial erythrocytosis 2 oboInOwl:hasDbXref OMIM:263400 semapv:UnspecifiedMatching DOID:0060474 familial erythrocytosis 2 oboInOwl:hasDbXref ORDO:238557 semapv:UnspecifiedMatching -DOID:0060474 familial erythrocytosis 2 skos:exactMatch OMIM:263400 semapv:UnspecifiedMatching -DOID:0060475 myoclonic-atonic epilepsy oboInOwl:hasDbXref OMIM:616421 semapv:UnspecifiedMatching -DOID:0060475 myoclonic-atonic epilepsy skos:exactMatch OMIM:616421 semapv:UnspecifiedMatching DOID:0060476 Perlman syndrome oboInOwl:hasDbXref GARD:3936 semapv:UnspecifiedMatching DOID:0060476 Perlman syndrome oboInOwl:hasDbXref ICD10CM:Q87.3 semapv:UnspecifiedMatching DOID:0060476 Perlman syndrome oboInOwl:hasDbXref MESH:C536399 semapv:UnspecifiedMatching -DOID:0060476 Perlman syndrome oboInOwl:hasDbXref OMIM:267000 semapv:UnspecifiedMatching DOID:0060476 Perlman syndrome oboInOwl:hasDbXref ORDO:2849 semapv:UnspecifiedMatching -DOID:0060476 Perlman syndrome skos:exactMatch OMIM:267000 semapv:UnspecifiedMatching DOID:0060478 Zika fever oboInOwl:hasDbXref ICD10CM:A92.8 semapv:UnspecifiedMatching DOID:0060478 Zika fever oboInOwl:hasDbXref MESH:D000071243 semapv:UnspecifiedMatching DOID:0060479 Shwachman-Diamond syndrome oboInOwl:hasDbXref GARD:4863 semapv:UnspecifiedMatching DOID:0060479 Shwachman-Diamond syndrome oboInOwl:hasDbXref ICD10CM:D61.0 semapv:UnspecifiedMatching DOID:0060479 Shwachman-Diamond syndrome oboInOwl:hasDbXref MESH:C537330 semapv:UnspecifiedMatching -DOID:0060479 Shwachman-Diamond syndrome oboInOwl:hasDbXref OMIM:260400 semapv:UnspecifiedMatching -DOID:0060479 Shwachman-Diamond syndrome skos:exactMatch OMIM:260400 semapv:UnspecifiedMatching DOID:0060480 left ventricular noncompaction oboInOwl:hasDbXref GARD:10985 semapv:UnspecifiedMatching -DOID:0060480 left ventricular noncompaction oboInOwl:hasDbXref OMIM:604169 semapv:UnspecifiedMatching DOID:0060480 left ventricular noncompaction oboInOwl:hasDbXref ORDO:54260 semapv:UnspecifiedMatching -DOID:0060480 left ventricular noncompaction skos:exactMatch OMIM:604169 semapv:UnspecifiedMatching DOID:0060481 Goldberg-Shprintzen syndrome oboInOwl:hasDbXref GARD:9849 semapv:UnspecifiedMatching DOID:0060481 Goldberg-Shprintzen syndrome oboInOwl:hasDbXref MESH:C537279 semapv:UnspecifiedMatching -DOID:0060481 Goldberg-Shprintzen syndrome oboInOwl:hasDbXref OMIM:609460 semapv:UnspecifiedMatching DOID:0060481 Goldberg-Shprintzen syndrome oboInOwl:hasDbXref ORDO:66629 semapv:UnspecifiedMatching DOID:0060481 Goldberg-Shprintzen syndrome oboInOwl:hasDbXref UMLS:C1836123 semapv:UnspecifiedMatching -DOID:0060481 Goldberg-Shprintzen syndrome skos:exactMatch OMIM:609460 semapv:UnspecifiedMatching DOID:0060482 oculoauricular syndrome oboInOwl:hasDbXref ICD10CM:Q87.8 semapv:UnspecifiedMatching DOID:0060482 oculoauricular syndrome oboInOwl:hasDbXref MESH:C567416 semapv:UnspecifiedMatching -DOID:0060482 oculoauricular syndrome oboInOwl:hasDbXref OMIM:612109 semapv:UnspecifiedMatching DOID:0060482 oculoauricular syndrome oboInOwl:hasDbXref ORDO:157962 semapv:UnspecifiedMatching -DOID:0060482 oculoauricular syndrome skos:exactMatch OMIM:612109 semapv:UnspecifiedMatching -DOID:0060483 MEDNIK syndrome oboInOwl:hasDbXref OMIM:609313 semapv:UnspecifiedMatching DOID:0060483 MEDNIK syndrome oboInOwl:hasDbXref ORDO:171851 semapv:UnspecifiedMatching -DOID:0060483 MEDNIK syndrome skos:exactMatch OMIM:609313 semapv:UnspecifiedMatching DOID:0060484 EAST syndrome oboInOwl:hasDbXref MESH:C557674 semapv:UnspecifiedMatching -DOID:0060484 EAST syndrome oboInOwl:hasDbXref OMIM:612780 semapv:UnspecifiedMatching DOID:0060484 EAST syndrome oboInOwl:hasDbXref ORDO:199343 semapv:UnspecifiedMatching DOID:0060484 EAST syndrome oboInOwl:hasDbXref UMLS:C2748572 semapv:UnspecifiedMatching -DOID:0060484 EAST syndrome skos:exactMatch OMIM:612780 semapv:UnspecifiedMatching DOID:0060485 Mowat-Wilson syndrome oboInOwl:hasDbXref GARD:9673 semapv:UnspecifiedMatching DOID:0060485 Mowat-Wilson syndrome oboInOwl:hasDbXref MESH:C536990 semapv:UnspecifiedMatching DOID:0060485 Mowat-Wilson syndrome oboInOwl:hasDbXref NCI:C74999 semapv:UnspecifiedMatching -DOID:0060485 Mowat-Wilson syndrome oboInOwl:hasDbXref OMIM:235730 semapv:UnspecifiedMatching DOID:0060485 Mowat-Wilson syndrome oboInOwl:hasDbXref ORDO:2152 semapv:UnspecifiedMatching DOID:0060485 Mowat-Wilson syndrome oboInOwl:hasDbXref UMLS:C1856113 semapv:UnspecifiedMatching -DOID:0060485 Mowat-Wilson syndrome skos:exactMatch OMIM:235730 semapv:UnspecifiedMatching DOID:0060486 Perry syndrome oboInOwl:hasDbXref GARD:10453 semapv:UnspecifiedMatching DOID:0060486 Perry syndrome oboInOwl:hasDbXref MESH:C566822 semapv:UnspecifiedMatching -DOID:0060486 Perry syndrome oboInOwl:hasDbXref OMIM:168605 semapv:UnspecifiedMatching DOID:0060486 Perry syndrome oboInOwl:hasDbXref ORDO:178509 semapv:UnspecifiedMatching -DOID:0060486 Perry syndrome skos:exactMatch OMIM:168605 semapv:UnspecifiedMatching DOID:0060488 Pitt-Hopkins syndrome oboInOwl:hasDbXref GARD:4372 semapv:UnspecifiedMatching DOID:0060488 Pitt-Hopkins syndrome oboInOwl:hasDbXref MESH:C537403 semapv:UnspecifiedMatching DOID:0060488 Pitt-Hopkins syndrome oboInOwl:hasDbXref NCI:C129872 semapv:UnspecifiedMatching -DOID:0060488 Pitt-Hopkins syndrome oboInOwl:hasDbXref OMIM:610954 semapv:UnspecifiedMatching DOID:0060488 Pitt-Hopkins syndrome oboInOwl:hasDbXref ORDO:2896 semapv:UnspecifiedMatching DOID:0060488 Pitt-Hopkins syndrome oboInOwl:hasDbXref UMLS:C1970431 semapv:UnspecifiedMatching -DOID:0060488 Pitt-Hopkins syndrome skos:exactMatch OMIM:610954 semapv:UnspecifiedMatching DOID:0060490 Schimke immuno-osseous dysplasia oboInOwl:hasDbXref GARD:4984 semapv:UnspecifiedMatching DOID:0060490 Schimke immuno-osseous dysplasia oboInOwl:hasDbXref MESH:C536629 semapv:UnspecifiedMatching DOID:0060490 Schimke immuno-osseous dysplasia oboInOwl:hasDbXref NCI:C135087 semapv:UnspecifiedMatching -DOID:0060490 Schimke immuno-osseous dysplasia oboInOwl:hasDbXref OMIM:242900 semapv:UnspecifiedMatching DOID:0060490 Schimke immuno-osseous dysplasia oboInOwl:hasDbXref ORDO:1830 semapv:UnspecifiedMatching DOID:0060490 Schimke immuno-osseous dysplasia oboInOwl:hasDbXref UMLS:C0877024 semapv:UnspecifiedMatching -DOID:0060490 Schimke immuno-osseous dysplasia skos:exactMatch OMIM:242900 semapv:UnspecifiedMatching DOID:0060491 SPOAN syndrome oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching DOID:0060491 SPOAN syndrome oboInOwl:hasDbXref MESH:C563702 semapv:UnspecifiedMatching -DOID:0060491 SPOAN syndrome oboInOwl:hasDbXref OMIM:609541 semapv:UnspecifiedMatching DOID:0060491 SPOAN syndrome oboInOwl:hasDbXref ORDO:320406 semapv:UnspecifiedMatching -DOID:0060491 SPOAN syndrome skos:exactMatch OMIM:609541 semapv:UnspecifiedMatching DOID:0060534 hepatoid adenocarcinoma oboInOwl:hasDbXref ICDO:8576/3 semapv:UnspecifiedMatching DOID:0060534 hepatoid adenocarcinoma oboInOwl:hasDbXref NCI:C66950 semapv:UnspecifiedMatching DOID:0060535 Warsaw breakage syndrome oboInOwl:hasDbXref GARD:13708 semapv:UnspecifiedMatching -DOID:0060535 Warsaw breakage syndrome oboInOwl:hasDbXref OMIM:613398 semapv:UnspecifiedMatching DOID:0060535 Warsaw breakage syndrome oboInOwl:hasDbXref ORDO:280558 semapv:UnspecifiedMatching -DOID:0060535 Warsaw breakage syndrome skos:exactMatch OMIM:613398 semapv:UnspecifiedMatching DOID:0060536 mitochondrial complex I deficiency oboInOwl:hasDbXref GARD:3908 semapv:UnspecifiedMatching DOID:0060536 mitochondrial complex I deficiency oboInOwl:hasDbXref MESH:C537475 semapv:UnspecifiedMatching -DOID:0060536 mitochondrial complex I deficiency oboInOwl:hasDbXref OMIM:252010 semapv:UnspecifiedMatching DOID:0060536 mitochondrial complex I deficiency oboInOwl:hasDbXref ORDO:2609 semapv:UnspecifiedMatching DOID:0060536 mitochondrial complex I deficiency oboInOwl:hasDbXref UMLS:C1838979 semapv:UnspecifiedMatching -DOID:0060536 mitochondrial complex I deficiency skos:exactMatch OMIM:252010 semapv:UnspecifiedMatching DOID:0060537 mitochondrial complex II deficiency oboInOwl:hasDbXref GARD:5053 semapv:UnspecifiedMatching DOID:0060537 mitochondrial complex II deficiency oboInOwl:hasDbXref ICD10CM:G71.3 semapv:UnspecifiedMatching DOID:0060537 mitochondrial complex II deficiency oboInOwl:hasDbXref MESH:C565375 semapv:UnspecifiedMatching -DOID:0060537 mitochondrial complex II deficiency oboInOwl:hasDbXref OMIM:252011 semapv:UnspecifiedMatching DOID:0060537 mitochondrial complex II deficiency oboInOwl:hasDbXref ORDO:3208 semapv:UnspecifiedMatching -DOID:0060537 mitochondrial complex II deficiency skos:exactMatch OMIM:252011 semapv:UnspecifiedMatching DOID:0060538 purpura fulminans oboInOwl:hasDbXref ICD10CM:D65 semapv:UnspecifiedMatching DOID:0060538 purpura fulminans oboInOwl:hasDbXref MESH:D055665 semapv:UnspecifiedMatching DOID:0060538 purpura fulminans oboInOwl:hasDbXref ORDO:49566 semapv:UnspecifiedMatching -DOID:0060539 Hermansky-Pudlak syndrome 1 oboInOwl:hasDbXref OMIM:203300 semapv:UnspecifiedMatching -DOID:0060539 Hermansky-Pudlak syndrome 1 skos:exactMatch OMIM:203300 semapv:UnspecifiedMatching DOID:0060540 Hermansky-Pudlak syndrome 2 oboInOwl:hasDbXref MESH:C537709 semapv:UnspecifiedMatching -DOID:0060540 Hermansky-Pudlak syndrome 2 oboInOwl:hasDbXref OMIM:608233 semapv:UnspecifiedMatching -DOID:0060540 Hermansky-Pudlak syndrome 2 skos:exactMatch OMIM:608233 semapv:UnspecifiedMatching -DOID:0060541 Hermansky-Pudlak syndrome 3 oboInOwl:hasDbXref OMIM:614072 semapv:UnspecifiedMatching -DOID:0060541 Hermansky-Pudlak syndrome 3 skos:exactMatch OMIM:614072 semapv:UnspecifiedMatching -DOID:0060542 Hermansky-Pudlak syndrome 4 oboInOwl:hasDbXref OMIM:614073 semapv:UnspecifiedMatching -DOID:0060542 Hermansky-Pudlak syndrome 4 skos:exactMatch OMIM:614073 semapv:UnspecifiedMatching -DOID:0060543 Hermansky-Pudlak syndrome 5 oboInOwl:hasDbXref OMIM:614074 semapv:UnspecifiedMatching -DOID:0060543 Hermansky-Pudlak syndrome 5 skos:exactMatch OMIM:614074 semapv:UnspecifiedMatching -DOID:0060544 Hermansky-Pudlak syndrome 6 oboInOwl:hasDbXref OMIM:614075 semapv:UnspecifiedMatching -DOID:0060544 Hermansky-Pudlak syndrome 6 skos:exactMatch OMIM:614075 semapv:UnspecifiedMatching -DOID:0060545 Hermansky-Pudlak syndrome 7 oboInOwl:hasDbXref OMIM:614076 semapv:UnspecifiedMatching -DOID:0060545 Hermansky-Pudlak syndrome 7 skos:exactMatch OMIM:614076 semapv:UnspecifiedMatching -DOID:0060546 Hermansky-Pudlak syndrome 8 oboInOwl:hasDbXref OMIM:614077 semapv:UnspecifiedMatching -DOID:0060546 Hermansky-Pudlak syndrome 8 skos:exactMatch OMIM:614077 semapv:UnspecifiedMatching -DOID:0060547 Hermansky-Pudlak syndrome 9 oboInOwl:hasDbXref OMIM:614171 semapv:UnspecifiedMatching -DOID:0060547 Hermansky-Pudlak syndrome 9 skos:exactMatch OMIM:614171 semapv:UnspecifiedMatching DOID:0060548 luminal breast carcinoma A oboInOwl:hasDbXref NCI:C53554 semapv:UnspecifiedMatching DOID:0060548 luminal breast carcinoma A oboInOwl:hasDbXref UMLS:C3642345 semapv:UnspecifiedMatching DOID:0060549 Barber-Say syndrome oboInOwl:hasDbXref GARD:819 semapv:UnspecifiedMatching DOID:0060549 Barber-Say syndrome oboInOwl:hasDbXref MESH:C537908 semapv:UnspecifiedMatching -DOID:0060549 Barber-Say syndrome oboInOwl:hasDbXref OMIM:209885 semapv:UnspecifiedMatching DOID:0060549 Barber-Say syndrome oboInOwl:hasDbXref ORDO:1231 semapv:UnspecifiedMatching DOID:0060549 Barber-Say syndrome oboInOwl:hasDbXref UMLS:C1319466 semapv:UnspecifiedMatching -DOID:0060549 Barber-Say syndrome skos:exactMatch OMIM:209885 semapv:UnspecifiedMatching DOID:0060550 ablepharon macrostomia syndrome oboInOwl:hasDbXref GARD:3 semapv:UnspecifiedMatching DOID:0060550 ablepharon macrostomia syndrome oboInOwl:hasDbXref MESH:C535557 semapv:UnspecifiedMatching -DOID:0060550 ablepharon macrostomia syndrome oboInOwl:hasDbXref OMIM:200110 semapv:UnspecifiedMatching DOID:0060550 ablepharon macrostomia syndrome oboInOwl:hasDbXref ORDO:920 semapv:UnspecifiedMatching DOID:0060550 ablepharon macrostomia syndrome oboInOwl:hasDbXref UMLS:C1860224 semapv:UnspecifiedMatching -DOID:0060550 ablepharon macrostomia syndrome skos:exactMatch OMIM:200110 semapv:UnspecifiedMatching DOID:0060551 poikiloderma with neutropenia oboInOwl:hasDbXref GARD:4085 semapv:UnspecifiedMatching DOID:0060551 poikiloderma with neutropenia oboInOwl:hasDbXref ICD10CM:D82.8 semapv:UnspecifiedMatching DOID:0060551 poikiloderma with neutropenia oboInOwl:hasDbXref MESH:C565820 semapv:UnspecifiedMatching -DOID:0060551 poikiloderma with neutropenia oboInOwl:hasDbXref OMIM:604173 semapv:UnspecifiedMatching DOID:0060551 poikiloderma with neutropenia oboInOwl:hasDbXref ORDO:221046 semapv:UnspecifiedMatching -DOID:0060551 poikiloderma with neutropenia skos:exactMatch OMIM:604173 semapv:UnspecifiedMatching DOID:0060556 Kufor-Rakeb syndrome oboInOwl:hasDbXref MESH:C537177 semapv:UnspecifiedMatching -DOID:0060556 Kufor-Rakeb syndrome oboInOwl:hasDbXref OMIM:606693 semapv:UnspecifiedMatching DOID:0060556 Kufor-Rakeb syndrome oboInOwl:hasDbXref ORDO:306674 semapv:UnspecifiedMatching DOID:0060556 Kufor-Rakeb syndrome oboInOwl:hasDbXref UMLS:C1847640 semapv:UnspecifiedMatching -DOID:0060556 Kufor-Rakeb syndrome skos:exactMatch OMIM:606693 semapv:UnspecifiedMatching -DOID:0060557 ataxia with oculomotor apraxia type 3 oboInOwl:hasDbXref OMIM:615217 semapv:UnspecifiedMatching -DOID:0060557 ataxia with oculomotor apraxia type 3 skos:exactMatch OMIM:615217 semapv:UnspecifiedMatching DOID:0060558 lethal congenital contracture syndrome oboInOwl:hasDbXref GARD:12643 semapv:UnspecifiedMatching DOID:0060558 lethal congenital contracture syndrome oboInOwl:hasDbXref ICD10CM:Q68.8 semapv:UnspecifiedMatching -DOID:0060558 lethal congenital contracture syndrome oboInOwl:hasDbXref OMIMPS:253310 semapv:UnspecifiedMatching DOID:0060558 lethal congenital contracture syndrome oboInOwl:hasDbXref ORDO:294965 semapv:UnspecifiedMatching -DOID:0060558 lethal congenital contracture syndrome skos:exactMatch OMIMPS:253310 semapv:UnspecifiedMatching DOID:0060559 lethal congenital contracture syndrome 1 oboInOwl:hasDbXref GARD:3227 semapv:UnspecifiedMatching DOID:0060559 lethal congenital contracture syndrome 1 oboInOwl:hasDbXref MESH:C537194 semapv:UnspecifiedMatching -DOID:0060559 lethal congenital contracture syndrome 1 oboInOwl:hasDbXref OMIM:253310 semapv:UnspecifiedMatching DOID:0060559 lethal congenital contracture syndrome 1 oboInOwl:hasDbXref ORDO:1486 semapv:UnspecifiedMatching DOID:0060559 lethal congenital contracture syndrome 1 oboInOwl:hasDbXref UMLS:C1854664 semapv:UnspecifiedMatching -DOID:0060559 lethal congenital contracture syndrome 1 skos:exactMatch OMIM:253310 semapv:UnspecifiedMatching DOID:0060560 lethal congenital contracture syndrome 2 oboInOwl:hasDbXref GARD:9177 semapv:UnspecifiedMatching DOID:0060560 lethal congenital contracture syndrome 2 oboInOwl:hasDbXref MESH:C564369 semapv:UnspecifiedMatching -DOID:0060560 lethal congenital contracture syndrome 2 oboInOwl:hasDbXref OMIM:607598 semapv:UnspecifiedMatching DOID:0060560 lethal congenital contracture syndrome 2 oboInOwl:hasDbXref ORDO:137776 semapv:UnspecifiedMatching -DOID:0060560 lethal congenital contracture syndrome 2 skos:exactMatch OMIM:607598 semapv:UnspecifiedMatching DOID:0060562 anomalous left coronary artery from the pulmonary artery oboInOwl:hasDbXref MESH:D063748 semapv:UnspecifiedMatching DOID:0060563 Char syndrome oboInOwl:hasDbXref GARD:1237 semapv:UnspecifiedMatching DOID:0060563 Char syndrome oboInOwl:hasDbXref MESH:C566815 semapv:UnspecifiedMatching -DOID:0060563 Char syndrome oboInOwl:hasDbXref OMIM:169100 semapv:UnspecifiedMatching -DOID:0060563 Char syndrome skos:exactMatch OMIM:169100 semapv:UnspecifiedMatching DOID:0060565 Ritscher-Schinzel syndrome oboInOwl:hasDbXref MESH:C535313 semapv:UnspecifiedMatching -DOID:0060565 Ritscher-Schinzel syndrome oboInOwl:hasDbXref OMIMPS:220210 semapv:UnspecifiedMatching DOID:0060565 Ritscher-Schinzel syndrome oboInOwl:hasDbXref ORDO:7 semapv:UnspecifiedMatching DOID:0060565 Ritscher-Schinzel syndrome oboInOwl:hasDbXref UMLS:C0796137 semapv:UnspecifiedMatching -DOID:0060565 Ritscher-Schinzel syndrome skos:exactMatch OMIMPS:220210 semapv:UnspecifiedMatching DOID:0060566 Holzgreve-Wagner-Rehder Syndrome oboInOwl:hasDbXref MESH:C535327 semapv:UnspecifiedMatching -DOID:0060566 Holzgreve-Wagner-Rehder Syndrome oboInOwl:hasDbXref OMIM:236110 semapv:UnspecifiedMatching DOID:0060566 Holzgreve-Wagner-Rehder Syndrome oboInOwl:hasDbXref ORDO:2167 semapv:UnspecifiedMatching DOID:0060566 Holzgreve-Wagner-Rehder Syndrome oboInOwl:hasDbXref UMLS:C1856095 semapv:UnspecifiedMatching -DOID:0060566 Holzgreve-Wagner-Rehder Syndrome skos:exactMatch OMIM:236110 semapv:UnspecifiedMatching DOID:0060567 erythema elevatum diutinum oboInOwl:hasDbXref GARD:8653 semapv:UnspecifiedMatching DOID:0060567 erythema elevatum diutinum oboInOwl:hasDbXref ICD10CM:L95.1 semapv:UnspecifiedMatching DOID:0060567 erythema elevatum diutinum oboInOwl:hasDbXref MESH:C535509 semapv:UnspecifiedMatching @@ -3472,83 +2173,41 @@ DOID:0060567 erythema elevatum diutinum oboInOwl:hasDbXref ORDO:90000 semapv:Uns DOID:0060567 erythema elevatum diutinum oboInOwl:hasDbXref UMLS:C0263398 semapv:UnspecifiedMatching DOID:0060569 hypertrichotic osteochondrodysplasia Cantu type oboInOwl:hasDbXref GARD:8585 semapv:UnspecifiedMatching DOID:0060569 hypertrichotic osteochondrodysplasia Cantu type oboInOwl:hasDbXref MESH:C535572 semapv:UnspecifiedMatching -DOID:0060569 hypertrichotic osteochondrodysplasia Cantu type oboInOwl:hasDbXref OMIM:239850 semapv:UnspecifiedMatching -DOID:0060569 hypertrichotic osteochondrodysplasia Cantu type skos:exactMatch OMIM:239850 semapv:UnspecifiedMatching DOID:0060570 cardiac tuberculosis oboInOwl:hasDbXref MESH:D014381 semapv:UnspecifiedMatching -DOID:0060571 Ritscher-Schinzel syndrome 1 oboInOwl:hasDbXref OMIM:220210 semapv:UnspecifiedMatching DOID:0060571 Ritscher-Schinzel syndrome 1 oboInOwl:hasDbXref ORDO:7 semapv:UnspecifiedMatching -DOID:0060571 Ritscher-Schinzel syndrome 1 skos:exactMatch OMIM:220210 semapv:UnspecifiedMatching -DOID:0060572 Ritscher-Schinzel syndrome 2 oboInOwl:hasDbXref OMIM:300963 semapv:UnspecifiedMatching DOID:0060572 Ritscher-Schinzel syndrome 2 oboInOwl:hasDbXref ORDO:7 semapv:UnspecifiedMatching -DOID:0060572 Ritscher-Schinzel syndrome 2 skos:exactMatch OMIM:300963 semapv:UnspecifiedMatching DOID:0060573 von Willebrand's disease 1 oboInOwl:hasDbXref ICD10CM:D68.01 semapv:UnspecifiedMatching DOID:0060573 von Willebrand's disease 1 oboInOwl:hasDbXref MESH:D056725 semapv:UnspecifiedMatching DOID:0060573 von Willebrand's disease 1 oboInOwl:hasDbXref NCI:C131685 semapv:UnspecifiedMatching -DOID:0060573 von Willebrand's disease 1 oboInOwl:hasDbXref OMIM:193400 semapv:UnspecifiedMatching DOID:0060573 von Willebrand's disease 1 oboInOwl:hasDbXref UMLS:C1264039 semapv:UnspecifiedMatching -DOID:0060573 von Willebrand's disease 1 skos:exactMatch OMIM:193400 semapv:UnspecifiedMatching DOID:0060574 von Willebrand's disease 2 oboInOwl:hasDbXref ICD10CM:D68.02 semapv:UnspecifiedMatching DOID:0060574 von Willebrand's disease 2 oboInOwl:hasDbXref MESH:D056728 semapv:UnspecifiedMatching -DOID:0060574 von Willebrand's disease 2 oboInOwl:hasDbXref OMIM:613554 semapv:UnspecifiedMatching DOID:0060574 von Willebrand's disease 2 oboInOwl:hasDbXref ORDO:166081 semapv:UnspecifiedMatching DOID:0060574 von Willebrand's disease 2 oboInOwl:hasDbXref UMLS:C1264040 semapv:UnspecifiedMatching -DOID:0060574 von Willebrand's disease 2 skos:exactMatch OMIM:613554 semapv:UnspecifiedMatching -DOID:0060575 3MC syndrome 1 oboInOwl:hasDbXref OMIM:257920 semapv:UnspecifiedMatching -DOID:0060575 3MC syndrome 1 skos:exactMatch OMIM:257920 semapv:UnspecifiedMatching -DOID:0060576 3MC syndrome 2 oboInOwl:hasDbXref OMIM:265050 semapv:UnspecifiedMatching -DOID:0060576 3MC syndrome 2 skos:exactMatch OMIM:265050 semapv:UnspecifiedMatching -DOID:0060577 3MC syndrome 3 oboInOwl:hasDbXref OMIM:248340 semapv:UnspecifiedMatching -DOID:0060577 3MC syndrome 3 skos:exactMatch OMIM:248340 semapv:UnspecifiedMatching DOID:0060578 Noonan syndrome 1 oboInOwl:hasDbXref ICD10CM:Q87.1 semapv:UnspecifiedMatching -DOID:0060578 Noonan syndrome 1 oboInOwl:hasDbXref OMIM:163950 semapv:UnspecifiedMatching -DOID:0060578 Noonan syndrome 1 skos:exactMatch OMIM:163950 semapv:UnspecifiedMatching DOID:0060580 Noonan syndrome 2 oboInOwl:hasDbXref ICD10CM:Q87.1 semapv:UnspecifiedMatching DOID:0060580 Noonan syndrome 2 oboInOwl:hasDbXref MESH:C548081 semapv:UnspecifiedMatching -DOID:0060580 Noonan syndrome 2 oboInOwl:hasDbXref OMIM:605275 semapv:UnspecifiedMatching -DOID:0060580 Noonan syndrome 2 skos:exactMatch OMIM:605275 semapv:UnspecifiedMatching DOID:0060581 Noonan syndrome 3 oboInOwl:hasDbXref ICD10CM:Q87.1 semapv:UnspecifiedMatching DOID:0060581 Noonan syndrome 3 oboInOwl:hasDbXref MESH:C537847 semapv:UnspecifiedMatching -DOID:0060581 Noonan syndrome 3 oboInOwl:hasDbXref OMIM:609942 semapv:UnspecifiedMatching -DOID:0060581 Noonan syndrome 3 skos:exactMatch OMIM:609942 semapv:UnspecifiedMatching DOID:0060582 Noonan syndrome 4 oboInOwl:hasDbXref ICD10CM:Q87.1 semapv:UnspecifiedMatching DOID:0060582 Noonan syndrome 4 oboInOwl:hasDbXref MESH:C548082 semapv:UnspecifiedMatching -DOID:0060582 Noonan syndrome 4 oboInOwl:hasDbXref OMIM:610733 semapv:UnspecifiedMatching -DOID:0060582 Noonan syndrome 4 skos:exactMatch OMIM:610733 semapv:UnspecifiedMatching DOID:0060583 Noonan syndrome 5 oboInOwl:hasDbXref ICD10CM:Q87.1 semapv:UnspecifiedMatching DOID:0060583 Noonan syndrome 5 oboInOwl:hasDbXref MESH:C548083 semapv:UnspecifiedMatching -DOID:0060583 Noonan syndrome 5 oboInOwl:hasDbXref OMIM:611553 semapv:UnspecifiedMatching -DOID:0060583 Noonan syndrome 5 skos:exactMatch OMIM:611553 semapv:UnspecifiedMatching DOID:0060584 Noonan syndrome 6 oboInOwl:hasDbXref ICD10CM:Q87.1 semapv:UnspecifiedMatching DOID:0060584 Noonan syndrome 6 oboInOwl:hasDbXref MESH:C548084 semapv:UnspecifiedMatching -DOID:0060584 Noonan syndrome 6 oboInOwl:hasDbXref OMIM:613224 semapv:UnspecifiedMatching -DOID:0060584 Noonan syndrome 6 skos:exactMatch OMIM:613224 semapv:UnspecifiedMatching DOID:0060585 Noonan syndrome 7 oboInOwl:hasDbXref ICD10CM:Q87.1 semapv:UnspecifiedMatching -DOID:0060585 Noonan syndrome 7 oboInOwl:hasDbXref OMIM:613706 semapv:UnspecifiedMatching -DOID:0060585 Noonan syndrome 7 skos:exactMatch OMIM:613706 semapv:UnspecifiedMatching DOID:0060586 Noonan syndrome 8 oboInOwl:hasDbXref ICD10CM:Q87.1 semapv:UnspecifiedMatching -DOID:0060586 Noonan syndrome 8 oboInOwl:hasDbXref OMIM:615355 semapv:UnspecifiedMatching -DOID:0060586 Noonan syndrome 8 skos:exactMatch OMIM:615355 semapv:UnspecifiedMatching DOID:0060587 Noonan syndrome 9 oboInOwl:hasDbXref ICD10CM:Q87.1 semapv:UnspecifiedMatching -DOID:0060587 Noonan syndrome 9 oboInOwl:hasDbXref OMIM:616559 semapv:UnspecifiedMatching -DOID:0060587 Noonan syndrome 9 skos:exactMatch OMIM:616559 semapv:UnspecifiedMatching DOID:0060588 Noonan syndrome 10 oboInOwl:hasDbXref ICD10CM:Q87.1 semapv:UnspecifiedMatching -DOID:0060588 Noonan syndrome 10 oboInOwl:hasDbXref OMIM:616564 semapv:UnspecifiedMatching -DOID:0060588 Noonan syndrome 10 skos:exactMatch OMIM:616564 semapv:UnspecifiedMatching DOID:0060589 Yunis-Varon syndrome oboInOwl:hasDbXref GARD:331 semapv:UnspecifiedMatching DOID:0060589 Yunis-Varon syndrome oboInOwl:hasDbXref MESH:C536719 semapv:UnspecifiedMatching -DOID:0060589 Yunis-Varon syndrome oboInOwl:hasDbXref OMIM:216340 semapv:UnspecifiedMatching DOID:0060589 Yunis-Varon syndrome oboInOwl:hasDbXref UMLS:C1857663 semapv:UnspecifiedMatching -DOID:0060589 Yunis-Varon syndrome skos:exactMatch OMIM:216340 semapv:UnspecifiedMatching DOID:0060590 XFE progeroid syndrome oboInOwl:hasDbXref GARD:10628 semapv:UnspecifiedMatching DOID:0060590 XFE progeroid syndrome oboInOwl:hasDbXref MESH:C567043 semapv:UnspecifiedMatching -DOID:0060590 XFE progeroid syndrome oboInOwl:hasDbXref OMIM:610965 semapv:UnspecifiedMatching -DOID:0060590 XFE progeroid syndrome skos:exactMatch OMIM:610965 semapv:UnspecifiedMatching DOID:0060591 WHIM syndrome oboInOwl:hasDbXref GARD:9297 semapv:UnspecifiedMatching DOID:0060591 WHIM syndrome oboInOwl:hasDbXref MESH:C536697 semapv:UnspecifiedMatching DOID:0060591 WHIM syndrome oboInOwl:hasDbXref NCI:C176819 semapv:UnspecifiedMatching -DOID:0060591 WHIM syndrome oboInOwl:hasDbXref OMIM:193670 semapv:UnspecifiedMatching DOID:0060591 WHIM syndrome oboInOwl:hasDbXref UMLS:C0472817 semapv:UnspecifiedMatching -DOID:0060591 WHIM syndrome skos:exactMatch OMIM:193670 semapv:UnspecifiedMatching DOID:0060592 B-cell adult acute lymphocytic leukemia oboInOwl:hasDbXref NCI:C9143 semapv:UnspecifiedMatching DOID:0060597 atypical chronic myeloid leukemia, BCR-ABL1 negative oboInOwl:hasDbXref ICD10CM:C92.2 semapv:UnspecifiedMatching DOID:0060597 atypical chronic myeloid leukemia, BCR-ABL1 negative oboInOwl:hasDbXref ICD9CM:205.2 semapv:UnspecifiedMatching @@ -3559,577 +2218,304 @@ DOID:0060597 atypical chronic myeloid leukemia, BCR-ABL1 negative oboInOwl:hasDb DOID:0060597 atypical chronic myeloid leukemia, BCR-ABL1 negative oboInOwl:hasDbXref UMLS:C1292772 semapv:UnspecifiedMatching DOID:0060599 Nance-Horan syndrome oboInOwl:hasDbXref GARD:7161 semapv:UnspecifiedMatching DOID:0060599 Nance-Horan syndrome oboInOwl:hasDbXref MESH:C538336 semapv:UnspecifiedMatching -DOID:0060599 Nance-Horan syndrome oboInOwl:hasDbXref OMIM:302350 semapv:UnspecifiedMatching DOID:0060599 Nance-Horan syndrome oboInOwl:hasDbXref ORDO:627 semapv:UnspecifiedMatching DOID:0060599 Nance-Horan syndrome oboInOwl:hasDbXref UMLS:C0796085 semapv:UnspecifiedMatching -DOID:0060599 Nance-Horan syndrome skos:exactMatch OMIM:302350 semapv:UnspecifiedMatching DOID:0060601 alpha-2-plasmin inhibitor deficiency oboInOwl:hasDbXref ICD10CM:D68.8 semapv:UnspecifiedMatching -DOID:0060601 alpha-2-plasmin inhibitor deficiency oboInOwl:hasDbXref OMIM:262850 semapv:UnspecifiedMatching DOID:0060601 alpha-2-plasmin inhibitor deficiency oboInOwl:hasDbXref ORDO:79 semapv:UnspecifiedMatching -DOID:0060601 alpha-2-plasmin inhibitor deficiency skos:exactMatch OMIM:262850 semapv:UnspecifiedMatching DOID:0060602 alpha-methylacyl-CoA racemase deficiency oboInOwl:hasDbXref MESH:C565768 semapv:UnspecifiedMatching -DOID:0060602 alpha-methylacyl-CoA racemase deficiency oboInOwl:hasDbXref OMIM:614307 semapv:UnspecifiedMatching -DOID:0060602 alpha-methylacyl-CoA racemase deficiency skos:exactMatch OMIM:614307 semapv:UnspecifiedMatching -DOID:0060603 isolated anhidrosis with normal sweat glands oboInOwl:hasDbXref OMIM:106190 semapv:UnspecifiedMatching -DOID:0060603 isolated anhidrosis with normal sweat glands skos:exactMatch OMIM:106190 semapv:UnspecifiedMatching DOID:0060604 ankyloglossia oboInOwl:hasDbXref ICD10CM:Q38.1 semapv:UnspecifiedMatching DOID:0060604 ankyloglossia oboInOwl:hasDbXref MESH:D000072676 semapv:UnspecifiedMatching -DOID:0060604 ankyloglossia oboInOwl:hasDbXref OMIM:106280 semapv:UnspecifiedMatching DOID:0060604 ankyloglossia skos:exactMatch MESH:D000072676 semapv:UnspecifiedMatching -DOID:0060604 ankyloglossia skos:exactMatch OMIM:106280 semapv:UnspecifiedMatching DOID:0060608 microcephalic osteodysplastic primordial dwarfism type I oboInOwl:hasDbXref GARD:5120 semapv:UnspecifiedMatching DOID:0060608 microcephalic osteodysplastic primordial dwarfism type I oboInOwl:hasDbXref ICD10CM:Q87.1 semapv:UnspecifiedMatching DOID:0060608 microcephalic osteodysplastic primordial dwarfism type I oboInOwl:hasDbXref MESH:C537577 semapv:UnspecifiedMatching -DOID:0060608 microcephalic osteodysplastic primordial dwarfism type I oboInOwl:hasDbXref OMIM:210710 semapv:UnspecifiedMatching DOID:0060608 microcephalic osteodysplastic primordial dwarfism type I oboInOwl:hasDbXref ORDO:2636 semapv:UnspecifiedMatching -DOID:0060608 microcephalic osteodysplastic primordial dwarfism type I skos:exactMatch OMIM:210710 semapv:UnspecifiedMatching DOID:0060609 microcephalic osteodysplastic primordial dwarfism type II oboInOwl:hasDbXref ICD10CM:Q87.1 semapv:UnspecifiedMatching DOID:0060609 microcephalic osteodysplastic primordial dwarfism type II oboInOwl:hasDbXref MESH:C565898 semapv:UnspecifiedMatching -DOID:0060609 microcephalic osteodysplastic primordial dwarfism type II oboInOwl:hasDbXref OMIM:210720 semapv:UnspecifiedMatching DOID:0060609 microcephalic osteodysplastic primordial dwarfism type II oboInOwl:hasDbXref ORDO:2637 semapv:UnspecifiedMatching -DOID:0060609 microcephalic osteodysplastic primordial dwarfism type II skos:exactMatch OMIM:210720 semapv:UnspecifiedMatching DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome oboInOwl:hasDbXref MESH:C536138 semapv:UnspecifiedMatching DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome oboInOwl:hasDbXref NCI:C98982 semapv:UnspecifiedMatching -DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome oboInOwl:hasDbXref OMIM:155310 semapv:UnspecifiedMatching DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome oboInOwl:hasDbXref ORDO:2241 semapv:UnspecifiedMatching DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome oboInOwl:hasDbXref UMLS:C1608393 semapv:UnspecifiedMatching -DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome skos:exactMatch OMIM:155310 semapv:UnspecifiedMatching DOID:0060611 abdominal obesity-metabolic syndrome oboInOwl:hasDbXref GARD:9226 semapv:UnspecifiedMatching DOID:0060611 abdominal obesity-metabolic syndrome oboInOwl:hasDbXref MESH:C535554 semapv:UnspecifiedMatching -DOID:0060611 abdominal obesity-metabolic syndrome oboInOwl:hasDbXref OMIMPS:605552 semapv:UnspecifiedMatching -DOID:0060611 abdominal obesity-metabolic syndrome skos:exactMatch OMIMPS:605552 semapv:UnspecifiedMatching -DOID:0060612 abdominal obesity-metabolic syndrome 3 oboInOwl:hasDbXref OMIM:615812 semapv:UnspecifiedMatching -DOID:0060612 abdominal obesity-metabolic syndrome 3 skos:exactMatch OMIM:615812 semapv:UnspecifiedMatching -DOID:0060613 X-linked cleft palate with or without ankyloglossia oboInOwl:hasDbXref OMIM:303400 semapv:UnspecifiedMatching DOID:0060613 X-linked cleft palate with or without ankyloglossia oboInOwl:hasDbXref ORDO:324601 semapv:UnspecifiedMatching -DOID:0060613 X-linked cleft palate with or without ankyloglossia skos:exactMatch OMIM:303400 semapv:UnspecifiedMatching DOID:0060614 ulnar-mammary syndrome oboInOwl:hasDbXref GARD:118 semapv:UnspecifiedMatching DOID:0060614 ulnar-mammary syndrome oboInOwl:hasDbXref MESH:C536937 semapv:UnspecifiedMatching -DOID:0060614 ulnar-mammary syndrome oboInOwl:hasDbXref OMIM:181450 semapv:UnspecifiedMatching DOID:0060614 ulnar-mammary syndrome oboInOwl:hasDbXref ORDO:3138 semapv:UnspecifiedMatching DOID:0060614 ulnar-mammary syndrome oboInOwl:hasDbXref UMLS:C1866994 semapv:UnspecifiedMatching -DOID:0060614 ulnar-mammary syndrome skos:exactMatch OMIM:181450 semapv:UnspecifiedMatching -DOID:0060638 neonatal diabetes mellitus with congenital hypothyroidism oboInOwl:hasDbXref OMIM:610199 semapv:UnspecifiedMatching DOID:0060638 neonatal diabetes mellitus with congenital hypothyroidism oboInOwl:hasDbXref ORDO:79118 semapv:UnspecifiedMatching -DOID:0060638 neonatal diabetes mellitus with congenital hypothyroidism skos:exactMatch OMIM:610199 semapv:UnspecifiedMatching DOID:0060639 permanent neonatal diabetes mellitus oboInOwl:hasDbXref GARD:10457 semapv:UnspecifiedMatching -DOID:0060639 permanent neonatal diabetes mellitus oboInOwl:hasDbXref OMIM:606176 semapv:UnspecifiedMatching -DOID:0060639 permanent neonatal diabetes mellitus skos:exactMatch OMIM:606176 semapv:UnspecifiedMatching DOID:0060640 ethylmalonic encephalopathy oboInOwl:hasDbXref GARD:2198 semapv:UnspecifiedMatching DOID:0060640 ethylmalonic encephalopathy oboInOwl:hasDbXref MESH:C535737 semapv:UnspecifiedMatching -DOID:0060640 ethylmalonic encephalopathy oboInOwl:hasDbXref OMIM:602473 semapv:UnspecifiedMatching DOID:0060640 ethylmalonic encephalopathy oboInOwl:hasDbXref ORDO:51188 semapv:UnspecifiedMatching DOID:0060640 ethylmalonic encephalopathy oboInOwl:hasDbXref UMLS:C1865349 semapv:UnspecifiedMatching -DOID:0060640 ethylmalonic encephalopathy skos:exactMatch OMIM:602473 semapv:UnspecifiedMatching DOID:0060641 endocrine-cerebro-osteodysplasia syndrome oboInOwl:hasDbXref ICD10CM:Q87.8 semapv:UnspecifiedMatching -DOID:0060641 endocrine-cerebro-osteodysplasia syndrome oboInOwl:hasDbXref OMIM:612651 semapv:UnspecifiedMatching DOID:0060641 endocrine-cerebro-osteodysplasia syndrome oboInOwl:hasDbXref ORDO:199332 semapv:UnspecifiedMatching -DOID:0060641 endocrine-cerebro-osteodysplasia syndrome skos:exactMatch OMIM:612651 semapv:UnspecifiedMatching DOID:0060642 recessive dystrophic epidermolysis bullosa oboInOwl:hasDbXref ICD10CM:Q81.2 semapv:UnspecifiedMatching -DOID:0060642 recessive dystrophic epidermolysis bullosa oboInOwl:hasDbXref OMIM:226600 semapv:UnspecifiedMatching DOID:0060642 recessive dystrophic epidermolysis bullosa oboInOwl:hasDbXref ORDO:79408 semapv:UnspecifiedMatching -DOID:0060642 recessive dystrophic epidermolysis bullosa skos:exactMatch OMIM:226600 semapv:UnspecifiedMatching DOID:0060643 primary sclerosing cholangitis oboInOwl:hasDbXref GARD:1280 semapv:UnspecifiedMatching DOID:0060643 primary sclerosing cholangitis oboInOwl:hasDbXref ICD10CM:K83.01 semapv:UnspecifiedMatching DOID:0060643 primary sclerosing cholangitis oboInOwl:hasDbXref MESH:D015209 semapv:UnspecifiedMatching DOID:0060643 primary sclerosing cholangitis oboInOwl:hasDbXref NCI:C4828 semapv:UnspecifiedMatching -DOID:0060643 primary sclerosing cholangitis oboInOwl:hasDbXref OMIM:613806 semapv:UnspecifiedMatching DOID:0060643 primary sclerosing cholangitis oboInOwl:hasDbXref ORDO:171 semapv:UnspecifiedMatching DOID:0060643 primary sclerosing cholangitis oboInOwl:hasDbXref UMLS:C0566602 semapv:UnspecifiedMatching -DOID:0060643 primary sclerosing cholangitis skos:exactMatch OMIM:613806 semapv:UnspecifiedMatching DOID:0060644 chondrodysplasia-pseudohermaphroditism syndrome oboInOwl:hasDbXref MESH:C536123 semapv:UnspecifiedMatching -DOID:0060644 chondrodysplasia-pseudohermaphroditism syndrome oboInOwl:hasDbXref OMIM:600092 semapv:UnspecifiedMatching DOID:0060644 chondrodysplasia-pseudohermaphroditism syndrome oboInOwl:hasDbXref ORDO:1422 semapv:UnspecifiedMatching DOID:0060644 chondrodysplasia-pseudohermaphroditism syndrome oboInOwl:hasDbXref UMLS:C1838654 semapv:UnspecifiedMatching -DOID:0060644 chondrodysplasia-pseudohermaphroditism syndrome skos:exactMatch OMIM:600092 semapv:UnspecifiedMatching DOID:0060645 chronic recurrent multifocal osteomyelitis oboInOwl:hasDbXref ICD10CM:M86.3 semapv:UnspecifiedMatching DOID:0060645 chronic recurrent multifocal osteomyelitis oboInOwl:hasDbXref MESH:C535456 semapv:UnspecifiedMatching -DOID:0060645 chronic recurrent multifocal osteomyelitis oboInOwl:hasDbXref OMIM:259680 semapv:UnspecifiedMatching DOID:0060645 chronic recurrent multifocal osteomyelitis oboInOwl:hasDbXref ORDO:324964 semapv:UnspecifiedMatching -DOID:0060645 chronic recurrent multifocal osteomyelitis skos:exactMatch OMIM:259680 semapv:UnspecifiedMatching -DOID:0060646 congenital chylothorax oboInOwl:hasDbXref OMIM:603523 semapv:UnspecifiedMatching DOID:0060646 congenital chylothorax oboInOwl:hasDbXref ORDO:264688 semapv:UnspecifiedMatching -DOID:0060646 congenital chylothorax skos:exactMatch OMIM:603523 semapv:UnspecifiedMatching -DOID:0060647 fetal encasement syndrome oboInOwl:hasDbXref OMIM:613630 semapv:UnspecifiedMatching DOID:0060647 fetal encasement syndrome oboInOwl:hasDbXref ORDO:465824 semapv:UnspecifiedMatching -DOID:0060647 fetal encasement syndrome skos:exactMatch OMIM:613630 semapv:UnspecifiedMatching DOID:0060648 anterior segment dysgenesis oboInOwl:hasDbXref GARD:10025 semapv:UnspecifiedMatching DOID:0060648 anterior segment dysgenesis oboInOwl:hasDbXref ICD10CM:Q13.8 semapv:UnspecifiedMatching -DOID:0060648 anterior segment dysgenesis oboInOwl:hasDbXref OMIMPS:107250 semapv:UnspecifiedMatching DOID:0060648 anterior segment dysgenesis oboInOwl:hasDbXref ORDO:88632 semapv:UnspecifiedMatching -DOID:0060648 anterior segment dysgenesis skos:exactMatch OMIMPS:107250 semapv:UnspecifiedMatching -DOID:0060649 congenital hereditary endothelial dystrophy of cornea oboInOwl:hasDbXref OMIM:217700 semapv:UnspecifiedMatching -DOID:0060649 congenital hereditary endothelial dystrophy of cornea skos:exactMatch OMIM:217700 semapv:UnspecifiedMatching DOID:0060650 dicarboxylic aminoaciduria oboInOwl:hasDbXref GARD:1855 semapv:UnspecifiedMatching DOID:0060650 dicarboxylic aminoaciduria oboInOwl:hasDbXref MESH:C536171 semapv:UnspecifiedMatching -DOID:0060650 dicarboxylic aminoaciduria oboInOwl:hasDbXref OMIM:222730 semapv:UnspecifiedMatching DOID:0060650 dicarboxylic aminoaciduria oboInOwl:hasDbXref ORDO:2195 semapv:UnspecifiedMatching DOID:0060650 dicarboxylic aminoaciduria oboInOwl:hasDbXref UMLS:C1857253 semapv:UnspecifiedMatching -DOID:0060650 dicarboxylic aminoaciduria skos:exactMatch OMIM:222730 semapv:UnspecifiedMatching DOID:0060651 MYH-9 related disease oboInOwl:hasDbXref ICD10CM:D69.4 semapv:UnspecifiedMatching -DOID:0060651 MYH-9 related disease oboInOwl:hasDbXref OMIM:155100 semapv:UnspecifiedMatching DOID:0060651 MYH-9 related disease oboInOwl:hasDbXref ORDO:182050 semapv:UnspecifiedMatching -DOID:0060651 MYH-9 related disease skos:exactMatch OMIM:155100 semapv:UnspecifiedMatching DOID:0060652 familial erythrocytosis 1 oboInOwl:hasDbXref ICD10CM:D75.0 semapv:UnspecifiedMatching -DOID:0060652 familial erythrocytosis 1 oboInOwl:hasDbXref OMIM:133100 semapv:UnspecifiedMatching DOID:0060652 familial erythrocytosis 1 oboInOwl:hasDbXref ORDO:90042 semapv:UnspecifiedMatching -DOID:0060652 familial erythrocytosis 1 skos:exactMatch OMIM:133100 semapv:UnspecifiedMatching -DOID:0060653 lethal congenital contracture syndrome 3 oboInOwl:hasDbXref OMIM:611369 semapv:UnspecifiedMatching DOID:0060653 lethal congenital contracture syndrome 3 oboInOwl:hasDbXref ORDO:137783 semapv:UnspecifiedMatching -DOID:0060653 lethal congenital contracture syndrome 3 skos:exactMatch OMIM:611369 semapv:UnspecifiedMatching -DOID:0060653 lethal congenital contracture syndrome 3 skos:exactMatch OMIM:611369 semapv:UnspecifiedMatching DOID:0060654 lethal congenital contracture syndrome 4 oboInOwl:hasDbXref GARD:12645 semapv:UnspecifiedMatching -DOID:0060654 lethal congenital contracture syndrome 4 oboInOwl:hasDbXref OMIM:614915 semapv:UnspecifiedMatching -DOID:0060654 lethal congenital contracture syndrome 4 skos:exactMatch OMIM:614915 semapv:UnspecifiedMatching -DOID:0060654 lethal congenital contracture syndrome 4 skos:exactMatch OMIM:614915 semapv:UnspecifiedMatching DOID:0060655 autosomal recessive congenital ichthyosis oboInOwl:hasDbXref ICD10CM:Q80.2 semapv:UnspecifiedMatching DOID:0060655 autosomal recessive congenital ichthyosis oboInOwl:hasDbXref MESH:D017490 semapv:UnspecifiedMatching DOID:0060655 autosomal recessive congenital ichthyosis oboInOwl:hasDbXref NCI:C84805 semapv:UnspecifiedMatching -DOID:0060655 autosomal recessive congenital ichthyosis oboInOwl:hasDbXref OMIMPS:242300 semapv:UnspecifiedMatching DOID:0060655 autosomal recessive congenital ichthyosis oboInOwl:hasDbXref ORDO:281097 semapv:UnspecifiedMatching DOID:0060655 autosomal recessive congenital ichthyosis oboInOwl:hasDbXref UMLS:C0079154 semapv:UnspecifiedMatching -DOID:0060655 autosomal recessive congenital ichthyosis skos:exactMatch OMIMPS:242300 semapv:UnspecifiedMatching DOID:0060656 autosomal recessive congenital ichthyosis 1 oboInOwl:hasDbXref GARD:3170 semapv:UnspecifiedMatching DOID:0060656 autosomal recessive congenital ichthyosis 1 oboInOwl:hasDbXref ICD10CM:Q80.2 semapv:UnspecifiedMatching -DOID:0060656 autosomal recessive congenital ichthyosis 1 oboInOwl:hasDbXref OMIM:242300 semapv:UnspecifiedMatching DOID:0060656 autosomal recessive congenital ichthyosis 1 oboInOwl:hasDbXref ORDO:100976 semapv:UnspecifiedMatching DOID:0060656 autosomal recessive congenital ichthyosis 1 oboInOwl:hasDbXref ORDO:281122 semapv:UnspecifiedMatching DOID:0060656 autosomal recessive congenital ichthyosis 1 oboInOwl:hasDbXref ORDO:313 semapv:UnspecifiedMatching -DOID:0060656 autosomal recessive congenital ichthyosis 1 skos:exactMatch OMIM:242300 semapv:UnspecifiedMatching DOID:0060668 anencephaly oboInOwl:hasDbXref GARD:5808 semapv:UnspecifiedMatching DOID:0060668 anencephaly oboInOwl:hasDbXref ICD10CM:Q00.0 semapv:UnspecifiedMatching DOID:0060668 anencephaly oboInOwl:hasDbXref MESH:D000757 semapv:UnspecifiedMatching -DOID:0060668 anencephaly oboInOwl:hasDbXref OMIM:206500 semapv:UnspecifiedMatching DOID:0060668 anencephaly oboInOwl:hasDbXref ORDO:1048 semapv:UnspecifiedMatching DOID:0060668 anencephaly skos:exactMatch MESH:D000757 semapv:UnspecifiedMatching -DOID:0060668 anencephaly skos:exactMatch OMIM:206500 semapv:UnspecifiedMatching -DOID:0060669 cerebral cavernous malformation oboInOwl:hasDbXref OMIMPS:116860 semapv:UnspecifiedMatching -DOID:0060669 cerebral cavernous malformation skos:exactMatch OMIM:PS116860 semapv:UnspecifiedMatching -DOID:0060669 cerebral cavernous malformation skos:exactMatch OMIMPS:116860 semapv:UnspecifiedMatching DOID:0060670 cerebral cavernous malformation 2 oboInOwl:hasDbXref ICD10CM:Q28.3 semapv:UnspecifiedMatching -DOID:0060670 cerebral cavernous malformation 2 oboInOwl:hasDbXref OMIM:603284 semapv:UnspecifiedMatching DOID:0060670 cerebral cavernous malformation 2 oboInOwl:hasDbXref ORDO:221061 semapv:UnspecifiedMatching -DOID:0060670 cerebral cavernous malformation 2 skos:exactMatch OMIM:603284 semapv:UnspecifiedMatching DOID:0060671 cerebral cavernous malformation 3 oboInOwl:hasDbXref ICD10CM:Q28.3 semapv:UnspecifiedMatching -DOID:0060671 cerebral cavernous malformation 3 oboInOwl:hasDbXref OMIM:603285 semapv:UnspecifiedMatching DOID:0060671 cerebral cavernous malformation 3 oboInOwl:hasDbXref ORDO:221061 semapv:UnspecifiedMatching -DOID:0060671 cerebral cavernous malformation 3 skos:exactMatch OMIM:603285 semapv:UnspecifiedMatching DOID:0060672 Grn-related frontotemporal lobar degeneration with Tdp43 inclusions oboInOwl:hasDbXref ICD10CM:G31.0 semapv:UnspecifiedMatching -DOID:0060672 Grn-related frontotemporal lobar degeneration with Tdp43 inclusions oboInOwl:hasDbXref OMIM:607485 semapv:UnspecifiedMatching -DOID:0060672 Grn-related frontotemporal lobar degeneration with Tdp43 inclusions skos:exactMatch OMIM:607485 semapv:UnspecifiedMatching DOID:0060673 Peters anomaly oboInOwl:hasDbXref GARD:7377 semapv:UnspecifiedMatching DOID:0060673 Peters anomaly oboInOwl:hasDbXref ICD10CM:Q13.4 semapv:UnspecifiedMatching DOID:0060673 Peters anomaly oboInOwl:hasDbXref MESH:C537884 semapv:UnspecifiedMatching -DOID:0060673 Peters anomaly oboInOwl:hasDbXref OMIM:604229 semapv:UnspecifiedMatching DOID:0060673 Peters anomaly oboInOwl:hasDbXref ORDO:708 semapv:UnspecifiedMatching -DOID:0060673 Peters anomaly skos:exactMatch OMIM:604229 semapv:UnspecifiedMatching DOID:0060674 catecholaminergic polymorphic ventricular tachycardia oboInOwl:hasDbXref ICD10CM:I47.2 semapv:UnspecifiedMatching -DOID:0060674 catecholaminergic polymorphic ventricular tachycardia oboInOwl:hasDbXref OMIMPS:604772 semapv:UnspecifiedMatching DOID:0060674 catecholaminergic polymorphic ventricular tachycardia oboInOwl:hasDbXref ORDO:3286 semapv:UnspecifiedMatching -DOID:0060674 catecholaminergic polymorphic ventricular tachycardia skos:exactMatch OMIMPS:604772 semapv:UnspecifiedMatching DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 oboInOwl:hasDbXref ICD10CM:I42.8 semapv:UnspecifiedMatching DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 oboInOwl:hasDbXref ICD10CM:I47.2 semapv:UnspecifiedMatching -DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 oboInOwl:hasDbXref OMIM:604772 semapv:UnspecifiedMatching -DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 skos:exactMatch OMIM:604772 semapv:UnspecifiedMatching DOID:0060676 catecholaminergic polymorphic ventricular tachycardia 2 oboInOwl:hasDbXref ICD10CM:I47.2 semapv:UnspecifiedMatching -DOID:0060676 catecholaminergic polymorphic ventricular tachycardia 2 oboInOwl:hasDbXref OMIM:611938 semapv:UnspecifiedMatching -DOID:0060676 catecholaminergic polymorphic ventricular tachycardia 2 skos:exactMatch OMIM:611938 semapv:UnspecifiedMatching DOID:0060677 catecholaminergic polymorphic ventricular tachycardia 3 oboInOwl:hasDbXref ICD10CM:I47.2 semapv:UnspecifiedMatching -DOID:0060677 catecholaminergic polymorphic ventricular tachycardia 3 oboInOwl:hasDbXref OMIM:614021 semapv:UnspecifiedMatching -DOID:0060677 catecholaminergic polymorphic ventricular tachycardia 3 skos:exactMatch OMIM:614021 semapv:UnspecifiedMatching DOID:0060678 catecholaminergic polymorphic ventricular tachycardia 4 oboInOwl:hasDbXref ICD10CM:I47.2 semapv:UnspecifiedMatching -DOID:0060678 catecholaminergic polymorphic ventricular tachycardia 4 oboInOwl:hasDbXref OMIM:614916 semapv:UnspecifiedMatching -DOID:0060678 catecholaminergic polymorphic ventricular tachycardia 4 skos:exactMatch OMIM:614916 semapv:UnspecifiedMatching DOID:0060679 catecholaminergic polymorphic ventricular tachycardia 5 oboInOwl:hasDbXref ICD10CM:I47.2 semapv:UnspecifiedMatching -DOID:0060679 catecholaminergic polymorphic ventricular tachycardia 5 oboInOwl:hasDbXref OMIM:615441 semapv:UnspecifiedMatching -DOID:0060679 catecholaminergic polymorphic ventricular tachycardia 5 skos:exactMatch OMIM:615441 semapv:UnspecifiedMatching DOID:0060680 pigment dispersion syndrome oboInOwl:hasDbXref MESH:C563184 semapv:UnspecifiedMatching -DOID:0060680 pigment dispersion syndrome oboInOwl:hasDbXref OMIM:600510 semapv:UnspecifiedMatching -DOID:0060680 pigment dispersion syndrome skos:exactMatch OMIM:600510 semapv:UnspecifiedMatching DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy oboInOwl:hasDbXref GARD:11918 semapv:UnspecifiedMatching DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy oboInOwl:hasDbXref MESH:C579932 semapv:UnspecifiedMatching -DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy oboInOwl:hasDbXref OMIMPS:600513 semapv:UnspecifiedMatching DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy oboInOwl:hasDbXref ORDO:98784 semapv:UnspecifiedMatching -DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy skos:exactMatch OMIMPS:600513 semapv:UnspecifiedMatching -DOID:0060682 autosomal dominant nocturnal frontal lobe epilepsy 1 oboInOwl:hasDbXref OMIM:600513 semapv:UnspecifiedMatching -DOID:0060682 autosomal dominant nocturnal frontal lobe epilepsy 1 skos:exactMatch OMIM:600513 semapv:UnspecifiedMatching -DOID:0060683 autosomal dominant nocturnal frontal lobe epilepsy 2 oboInOwl:hasDbXref OMIM:603204 semapv:UnspecifiedMatching -DOID:0060683 autosomal dominant nocturnal frontal lobe epilepsy 2 skos:exactMatch OMIM:603204 semapv:UnspecifiedMatching -DOID:0060684 autosomal dominant nocturnal frontal lobe epilepsy 3 oboInOwl:hasDbXref OMIM:605375 semapv:UnspecifiedMatching -DOID:0060684 autosomal dominant nocturnal frontal lobe epilepsy 3 skos:exactMatch OMIM:605375 semapv:UnspecifiedMatching -DOID:0060685 autosomal dominant nocturnal frontal lobe epilepsy 4 oboInOwl:hasDbXref OMIM:610353 semapv:UnspecifiedMatching -DOID:0060685 autosomal dominant nocturnal frontal lobe epilepsy 4 skos:exactMatch OMIM:610353 semapv:UnspecifiedMatching -DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 oboInOwl:hasDbXref OMIM:615005 semapv:UnspecifiedMatching -DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 skos:exactMatch OMIM:615005 semapv:UnspecifiedMatching DOID:0060688 arteriovenous malformations of the brain oboInOwl:hasDbXref ICD10CM:Q28.2 semapv:UnspecifiedMatching DOID:0060688 arteriovenous malformations of the brain oboInOwl:hasDbXref MESH:D002538 semapv:UnspecifiedMatching -DOID:0060688 arteriovenous malformations of the brain oboInOwl:hasDbXref OMIM:108010 semapv:UnspecifiedMatching DOID:0060688 arteriovenous malformations of the brain oboInOwl:hasDbXref ORDO:46724 semapv:UnspecifiedMatching DOID:0060688 arteriovenous malformations of the brain oboInOwl:hasDbXref UMLS:C0007772 semapv:UnspecifiedMatching -DOID:0060688 arteriovenous malformations of the brain skos:exactMatch OMIM:108010 semapv:UnspecifiedMatching DOID:0060689 atrichia with papular lesions oboInOwl:hasDbXref ICD10CM:L65.8 semapv:UnspecifiedMatching DOID:0060689 atrichia with papular lesions oboInOwl:hasDbXref MESH:C565924 semapv:UnspecifiedMatching -DOID:0060689 atrichia with papular lesions oboInOwl:hasDbXref OMIM:209500 semapv:UnspecifiedMatching DOID:0060689 atrichia with papular lesions oboInOwl:hasDbXref ORDO:86819 semapv:UnspecifiedMatching -DOID:0060689 atrichia with papular lesions skos:exactMatch OMIM:209500 semapv:UnspecifiedMatching DOID:0060690 autosomal dominant auditory neuropathy 1 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0060690 autosomal dominant auditory neuropathy 1 oboInOwl:hasDbXref OMIM:609129 semapv:UnspecifiedMatching -DOID:0060690 autosomal dominant auditory neuropathy 1 skos:exactMatch OMIM:609129 semapv:UnspecifiedMatching DOID:0060691 platelet-type bleeding disorder 16 oboInOwl:hasDbXref ICD10CM:D69.4 semapv:UnspecifiedMatching -DOID:0060691 platelet-type bleeding disorder 16 oboInOwl:hasDbXref OMIM:187800 semapv:UnspecifiedMatching DOID:0060691 platelet-type bleeding disorder 16 oboInOwl:hasDbXref ORDO:140957 semapv:UnspecifiedMatching -DOID:0060691 platelet-type bleeding disorder 16 skos:exactMatch OMIM:187800 semapv:UnspecifiedMatching DOID:0060692 platelet-type bleeding disorder 8 oboInOwl:hasDbXref ICD10CM:D69.8 semapv:UnspecifiedMatching -DOID:0060692 platelet-type bleeding disorder 8 oboInOwl:hasDbXref OMIM:609821 semapv:UnspecifiedMatching DOID:0060692 platelet-type bleeding disorder 8 oboInOwl:hasDbXref ORDO:36355 semapv:UnspecifiedMatching -DOID:0060692 platelet-type bleeding disorder 8 skos:exactMatch OMIM:609821 semapv:UnspecifiedMatching DOID:0060693 Brunner Syndrome oboInOwl:hasDbXref ICD10CM:E70.8 semapv:UnspecifiedMatching DOID:0060693 Brunner Syndrome oboInOwl:hasDbXref MESH:C563156 semapv:UnspecifiedMatching -DOID:0060693 Brunner Syndrome oboInOwl:hasDbXref OMIM:300615 semapv:UnspecifiedMatching DOID:0060693 Brunner Syndrome oboInOwl:hasDbXref ORDO:3057 semapv:UnspecifiedMatching -DOID:0060693 Brunner Syndrome skos:exactMatch OMIM:300615 semapv:UnspecifiedMatching DOID:0060694 Cayman type cerebellar ataxia oboInOwl:hasDbXref ICD10CM:G11.0 semapv:UnspecifiedMatching DOID:0060694 Cayman type cerebellar ataxia oboInOwl:hasDbXref MESH:C563363 semapv:UnspecifiedMatching -DOID:0060694 Cayman type cerebellar ataxia oboInOwl:hasDbXref OMIM:601238 semapv:UnspecifiedMatching DOID:0060694 Cayman type cerebellar ataxia oboInOwl:hasDbXref ORDO:94122 semapv:UnspecifiedMatching -DOID:0060694 Cayman type cerebellar ataxia skos:exactMatch OMIM:601238 semapv:UnspecifiedMatching DOID:0060695 hyperekplexia oboInOwl:hasDbXref GARD:3129 semapv:UnspecifiedMatching DOID:0060695 hyperekplexia oboInOwl:hasDbXref ICD10CM:G25.8 semapv:UnspecifiedMatching DOID:0060695 hyperekplexia oboInOwl:hasDbXref MESH:D000071017 semapv:UnspecifiedMatching -DOID:0060695 hyperekplexia oboInOwl:hasDbXref OMIMPS:149400 semapv:UnspecifiedMatching DOID:0060695 hyperekplexia oboInOwl:hasDbXref ORDO:3197 semapv:UnspecifiedMatching DOID:0060695 hyperekplexia skos:exactMatch GARD:3129 semapv:UnspecifiedMatching -DOID:0060695 hyperekplexia skos:exactMatch OMIMPS:149400 semapv:UnspecifiedMatching DOID:0060696 hyperekplexia 1 oboInOwl:hasDbXref ICD10CM:G25.8 semapv:UnspecifiedMatching DOID:0060696 hyperekplexia 1 oboInOwl:hasDbXref MESH:D000071017 semapv:UnspecifiedMatching -DOID:0060696 hyperekplexia 1 oboInOwl:hasDbXref OMIM:149400 semapv:UnspecifiedMatching DOID:0060696 hyperekplexia 1 oboInOwl:hasDbXref ORDO:3197 semapv:UnspecifiedMatching -DOID:0060696 hyperekplexia 1 skos:exactMatch OMIM:149400 semapv:UnspecifiedMatching DOID:0060697 hyperekplexia 2 oboInOwl:hasDbXref ICD10CM:G25.8 semapv:UnspecifiedMatching -DOID:0060697 hyperekplexia 2 oboInOwl:hasDbXref OMIM:614619 semapv:UnspecifiedMatching DOID:0060697 hyperekplexia 2 oboInOwl:hasDbXref ORDO:3197 semapv:UnspecifiedMatching -DOID:0060697 hyperekplexia 2 skos:exactMatch OMIM:614619 semapv:UnspecifiedMatching DOID:0060698 hyperekplexia 3 oboInOwl:hasDbXref ICD10CM:G25.8 semapv:UnspecifiedMatching -DOID:0060698 hyperekplexia 3 oboInOwl:hasDbXref OMIM:614618 semapv:UnspecifiedMatching DOID:0060698 hyperekplexia 3 oboInOwl:hasDbXref ORDO:3197 semapv:UnspecifiedMatching -DOID:0060698 hyperekplexia 3 skos:exactMatch OMIM:614618 semapv:UnspecifiedMatching DOID:0060699 familial hypocalciuric hypercalcemia oboInOwl:hasDbXref GARD:10828 semapv:UnspecifiedMatching DOID:0060699 familial hypocalciuric hypercalcemia oboInOwl:hasDbXref ICD10CM:E83.5 semapv:UnspecifiedMatching -DOID:0060699 familial hypocalciuric hypercalcemia oboInOwl:hasDbXref OMIMPS:145980 semapv:UnspecifiedMatching DOID:0060699 familial hypocalciuric hypercalcemia oboInOwl:hasDbXref ORDO:405 semapv:UnspecifiedMatching -DOID:0060699 familial hypocalciuric hypercalcemia skos:exactMatch OMIMPS:145980 semapv:UnspecifiedMatching DOID:0060700 familial hypocalciuric hypercalcemia 1 oboInOwl:hasDbXref ICD10CM:E83.5 semapv:UnspecifiedMatching -DOID:0060700 familial hypocalciuric hypercalcemia 1 oboInOwl:hasDbXref OMIM:145980 semapv:UnspecifiedMatching DOID:0060700 familial hypocalciuric hypercalcemia 1 oboInOwl:hasDbXref ORDO:93372 semapv:UnspecifiedMatching -DOID:0060700 familial hypocalciuric hypercalcemia 1 skos:exactMatch OMIM:145980 semapv:UnspecifiedMatching DOID:0060701 familial hypocalciuric hypercalcemia 2 oboInOwl:hasDbXref GARD:9758 semapv:UnspecifiedMatching DOID:0060701 familial hypocalciuric hypercalcemia 2 oboInOwl:hasDbXref ICD10CM:E83.5 semapv:UnspecifiedMatching -DOID:0060701 familial hypocalciuric hypercalcemia 2 oboInOwl:hasDbXref OMIM:145981 semapv:UnspecifiedMatching DOID:0060701 familial hypocalciuric hypercalcemia 2 oboInOwl:hasDbXref ORDO:101049 semapv:UnspecifiedMatching -DOID:0060701 familial hypocalciuric hypercalcemia 2 skos:exactMatch OMIM:145981 semapv:UnspecifiedMatching DOID:0060702 familial hypocalciuric hypercalcemia 3 oboInOwl:hasDbXref GARD:2878 semapv:UnspecifiedMatching DOID:0060702 familial hypocalciuric hypercalcemia 3 oboInOwl:hasDbXref ICD10CM:E83.5 semapv:UnspecifiedMatching -DOID:0060702 familial hypocalciuric hypercalcemia 3 oboInOwl:hasDbXref OMIM:600740 semapv:UnspecifiedMatching DOID:0060702 familial hypocalciuric hypercalcemia 3 oboInOwl:hasDbXref ORDO:101050 semapv:UnspecifiedMatching -DOID:0060702 familial hypocalciuric hypercalcemia 3 skos:exactMatch OMIM:600740 semapv:UnspecifiedMatching DOID:0060703 Muenke Syndrome oboInOwl:hasDbXref GARD:7097 semapv:UnspecifiedMatching DOID:0060703 Muenke Syndrome oboInOwl:hasDbXref MESH:C537369 semapv:UnspecifiedMatching DOID:0060703 Muenke Syndrome oboInOwl:hasDbXref NCI:C84904 semapv:UnspecifiedMatching -DOID:0060703 Muenke Syndrome oboInOwl:hasDbXref OMIM:602849 semapv:UnspecifiedMatching DOID:0060703 Muenke Syndrome oboInOwl:hasDbXref ORDO:53271 semapv:UnspecifiedMatching DOID:0060703 Muenke Syndrome oboInOwl:hasDbXref UMLS:C1864436 semapv:UnspecifiedMatching -DOID:0060703 Muenke Syndrome skos:exactMatch OMIM:602849 semapv:UnspecifiedMatching -DOID:0060704 lymphoproliferative syndrome oboInOwl:hasDbXref OMIMPS:308240 semapv:UnspecifiedMatching DOID:0060704 lymphoproliferative syndrome oboInOwl:hasDbXref ORDO:538963 semapv:UnspecifiedMatching -DOID:0060704 lymphoproliferative syndrome skos:exactMatch OMIMPS:308240 semapv:UnspecifiedMatching DOID:0060705 X-linked lymphoproliferative syndrome 1 oboInOwl:hasDbXref GARD:7906 semapv:UnspecifiedMatching DOID:0060705 X-linked lymphoproliferative syndrome 1 oboInOwl:hasDbXref ICD10CM:D82.3 semapv:UnspecifiedMatching -DOID:0060705 X-linked lymphoproliferative syndrome 1 oboInOwl:hasDbXref OMIM:308240 semapv:UnspecifiedMatching -DOID:0060705 X-linked lymphoproliferative syndrome 1 skos:exactMatch OMIM:308240 semapv:UnspecifiedMatching DOID:0060706 X-linked lymphoproliferative syndrome 2 oboInOwl:hasDbXref GARD:10916 semapv:UnspecifiedMatching DOID:0060706 X-linked lymphoproliferative syndrome 2 oboInOwl:hasDbXref ICD10CM:D82.3 semapv:UnspecifiedMatching -DOID:0060706 X-linked lymphoproliferative syndrome 2 oboInOwl:hasDbXref OMIM:300635 semapv:UnspecifiedMatching -DOID:0060706 X-linked lymphoproliferative syndrome 2 skos:exactMatch OMIM:300635 semapv:UnspecifiedMatching DOID:0060707 lymphoproliferative syndrome 1 oboInOwl:hasDbXref ICD10CM:D47.9 semapv:UnspecifiedMatching -DOID:0060707 lymphoproliferative syndrome 1 oboInOwl:hasDbXref OMIM:613011 semapv:UnspecifiedMatching -DOID:0060707 lymphoproliferative syndrome 1 skos:exactMatch OMIM:613011 semapv:UnspecifiedMatching DOID:0060708 lymphoproliferative syndrome 2 oboInOwl:hasDbXref ICD10CM:D47.9 semapv:UnspecifiedMatching -DOID:0060708 lymphoproliferative syndrome 2 oboInOwl:hasDbXref OMIM:615122 semapv:UnspecifiedMatching -DOID:0060708 lymphoproliferative syndrome 2 skos:exactMatch OMIM:615122 semapv:UnspecifiedMatching DOID:0060710 autosomal recessive congenital ichthyosis 2 oboInOwl:hasDbXref ICD10CM:Q80.2 semapv:UnspecifiedMatching -DOID:0060710 autosomal recessive congenital ichthyosis 2 oboInOwl:hasDbXref OMIM:242100 semapv:UnspecifiedMatching -DOID:0060710 autosomal recessive congenital ichthyosis 2 skos:exactMatch OMIM:242100 semapv:UnspecifiedMatching DOID:0060711 autosomal recessive congenital ichthyosis 3 oboInOwl:hasDbXref ICD10CM:Q80.2 semapv:UnspecifiedMatching -DOID:0060711 autosomal recessive congenital ichthyosis 3 oboInOwl:hasDbXref OMIM:606545 semapv:UnspecifiedMatching -DOID:0060711 autosomal recessive congenital ichthyosis 3 skos:exactMatch OMIM:606545 semapv:UnspecifiedMatching DOID:0060712 autosomal recessive congenital ichthyosis 4A oboInOwl:hasDbXref ICD10CM:Q80.2 semapv:UnspecifiedMatching -DOID:0060712 autosomal recessive congenital ichthyosis 4A oboInOwl:hasDbXref OMIM:601277 semapv:UnspecifiedMatching -DOID:0060712 autosomal recessive congenital ichthyosis 4A skos:exactMatch OMIM:601277 semapv:UnspecifiedMatching DOID:0060713 autosomal recessive congenital ichthyosis 4B oboInOwl:hasDbXref ICD10CM:Q80.4 semapv:UnspecifiedMatching -DOID:0060713 autosomal recessive congenital ichthyosis 4B oboInOwl:hasDbXref OMIM:242500 semapv:UnspecifiedMatching DOID:0060713 autosomal recessive congenital ichthyosis 4B oboInOwl:hasDbXref ORDO:457 semapv:UnspecifiedMatching -DOID:0060713 autosomal recessive congenital ichthyosis 4B skos:exactMatch OMIM:242500 semapv:UnspecifiedMatching DOID:0060714 autosomal recessive congenital ichthyosis 5 oboInOwl:hasDbXref ICD10CM:Q80.2 semapv:UnspecifiedMatching -DOID:0060714 autosomal recessive congenital ichthyosis 5 oboInOwl:hasDbXref OMIM:604777 semapv:UnspecifiedMatching -DOID:0060714 autosomal recessive congenital ichthyosis 5 skos:exactMatch OMIM:604777 semapv:UnspecifiedMatching DOID:0060715 autosomal recessive congenital ichthyosis 6 oboInOwl:hasDbXref ICD10CM:Q80.2 semapv:UnspecifiedMatching -DOID:0060715 autosomal recessive congenital ichthyosis 6 oboInOwl:hasDbXref OMIM:612281 semapv:UnspecifiedMatching -DOID:0060715 autosomal recessive congenital ichthyosis 6 skos:exactMatch OMIM:612281 semapv:UnspecifiedMatching DOID:0060716 autosomal recessive congenital ichthyosis 7 oboInOwl:hasDbXref ICD10CM:Q80.2 semapv:UnspecifiedMatching -DOID:0060716 autosomal recessive congenital ichthyosis 7 oboInOwl:hasDbXref OMIM:615022 semapv:UnspecifiedMatching -DOID:0060716 autosomal recessive congenital ichthyosis 7 skos:exactMatch OMIM:615022 semapv:UnspecifiedMatching DOID:0060717 autosomal recessive congenital ichthyosis 8 oboInOwl:hasDbXref ICD10CM:Q80.2 semapv:UnspecifiedMatching -DOID:0060717 autosomal recessive congenital ichthyosis 8 oboInOwl:hasDbXref OMIM:613943 semapv:UnspecifiedMatching -DOID:0060717 autosomal recessive congenital ichthyosis 8 skos:exactMatch OMIM:613943 semapv:UnspecifiedMatching DOID:0060718 autosomal recessive congenital ichthyosis 9 oboInOwl:hasDbXref ICD10CM:Q80.2 semapv:UnspecifiedMatching -DOID:0060718 autosomal recessive congenital ichthyosis 9 oboInOwl:hasDbXref OMIM:615023 semapv:UnspecifiedMatching -DOID:0060718 autosomal recessive congenital ichthyosis 9 skos:exactMatch OMIM:615023 semapv:UnspecifiedMatching DOID:0060719 autosomal recessive congenital ichthyosis 10 oboInOwl:hasDbXref ICD10CM:Q80.2 semapv:UnspecifiedMatching -DOID:0060719 autosomal recessive congenital ichthyosis 10 oboInOwl:hasDbXref OMIM:615024 semapv:UnspecifiedMatching -DOID:0060719 autosomal recessive congenital ichthyosis 10 skos:exactMatch OMIM:615024 semapv:UnspecifiedMatching DOID:0060720 autosomal recessive congenital ichthyosis 11 oboInOwl:hasDbXref ICD10CM:Q80.8 semapv:UnspecifiedMatching -DOID:0060720 autosomal recessive congenital ichthyosis 11 oboInOwl:hasDbXref OMIM:602400 semapv:UnspecifiedMatching -DOID:0060720 autosomal recessive congenital ichthyosis 11 skos:exactMatch OMIM:602400 semapv:UnspecifiedMatching DOID:0060728 NGLY1-deficiency oboInOwl:hasDbXref ICD10CM:E77.8 semapv:UnspecifiedMatching DOID:0060728 NGLY1-deficiency oboInOwl:hasDbXref MESH:C000626124 semapv:UnspecifiedMatching -DOID:0060728 NGLY1-deficiency oboInOwl:hasDbXref OMIM:615273 semapv:UnspecifiedMatching DOID:0060728 NGLY1-deficiency oboInOwl:hasDbXref ORDO:404454 semapv:UnspecifiedMatching -DOID:0060728 NGLY1-deficiency skos:exactMatch OMIM:615273 semapv:UnspecifiedMatching DOID:0060730 torsion dystonia 1 oboInOwl:hasDbXref ICD10CM:G24.1 semapv:UnspecifiedMatching -DOID:0060730 torsion dystonia 1 oboInOwl:hasDbXref OMIM:128100 semapv:UnspecifiedMatching DOID:0060730 torsion dystonia 1 oboInOwl:hasDbXref ORDO:256 semapv:UnspecifiedMatching -DOID:0060730 torsion dystonia 1 skos:exactMatch OMIM:128100 semapv:UnspecifiedMatching DOID:0060731 congenital central hypoventilation syndrome oboInOwl:hasDbXref GARD:8535 semapv:UnspecifiedMatching DOID:0060731 congenital central hypoventilation syndrome oboInOwl:hasDbXref ICD10CM:G47.3 semapv:UnspecifiedMatching DOID:0060731 congenital central hypoventilation syndrome oboInOwl:hasDbXref MESH:C536209 semapv:UnspecifiedMatching -DOID:0060731 congenital central hypoventilation syndrome oboInOwl:hasDbXref OMIM:209880 semapv:UnspecifiedMatching DOID:0060731 congenital central hypoventilation syndrome oboInOwl:hasDbXref ORDO:661 semapv:UnspecifiedMatching -DOID:0060731 congenital central hypoventilation syndrome skos:exactMatch OMIM:209880 semapv:UnspecifiedMatching DOID:0060732 chromosome 9p deletion syndrome oboInOwl:hasDbXref ICD10CM:Q93.5 semapv:UnspecifiedMatching DOID:0060732 chromosome 9p deletion syndrome oboInOwl:hasDbXref MESH:C538024 semapv:UnspecifiedMatching -DOID:0060732 chromosome 9p deletion syndrome oboInOwl:hasDbXref OMIM:158170 semapv:UnspecifiedMatching DOID:0060732 chromosome 9p deletion syndrome oboInOwl:hasDbXref ORDO:261112 semapv:UnspecifiedMatching -DOID:0060732 chromosome 9p deletion syndrome skos:exactMatch OMIM:158170 semapv:UnspecifiedMatching DOID:0060733 junctional epidermolysis bullosa with pyloric atresia oboInOwl:hasDbXref ICD10CM:Q81.8 semapv:UnspecifiedMatching -DOID:0060733 junctional epidermolysis bullosa with pyloric atresia oboInOwl:hasDbXref OMIM:226730 semapv:UnspecifiedMatching DOID:0060733 junctional epidermolysis bullosa with pyloric atresia oboInOwl:hasDbXref ORDO:79403 semapv:UnspecifiedMatching -DOID:0060733 junctional epidermolysis bullosa with pyloric atresia skos:exactMatch OMIM:226730 semapv:UnspecifiedMatching DOID:0060735 epidermolysis bullosa simplex Dowling-Meara type oboInOwl:hasDbXref ICD10CM:Q81.0 semapv:UnspecifiedMatching -DOID:0060735 epidermolysis bullosa simplex Dowling-Meara type oboInOwl:hasDbXref OMIM:131760 semapv:UnspecifiedMatching DOID:0060735 epidermolysis bullosa simplex Dowling-Meara type oboInOwl:hasDbXref ORDO:79396 semapv:UnspecifiedMatching -DOID:0060735 epidermolysis bullosa simplex Dowling-Meara type skos:exactMatch OMIM:131760 semapv:UnspecifiedMatching DOID:0060736 epidermolysis bullosa simplex Ogna type oboInOwl:hasDbXref ICD10CM:Q81.0 semapv:UnspecifiedMatching -DOID:0060736 epidermolysis bullosa simplex Ogna type oboInOwl:hasDbXref OMIM:131950 semapv:UnspecifiedMatching DOID:0060736 epidermolysis bullosa simplex Ogna type oboInOwl:hasDbXref ORDO:79401 semapv:UnspecifiedMatching -DOID:0060736 epidermolysis bullosa simplex Ogna type skos:exactMatch OMIM:131950 semapv:UnspecifiedMatching DOID:0060737 junctional epidermolysis bullosa Herlitz type oboInOwl:hasDbXref ICD10CM:Q81.1 semapv:UnspecifiedMatching -DOID:0060737 junctional epidermolysis bullosa Herlitz type oboInOwl:hasDbXref OMIM:226700 semapv:UnspecifiedMatching DOID:0060737 junctional epidermolysis bullosa Herlitz type oboInOwl:hasDbXref ORDO:79404 semapv:UnspecifiedMatching -DOID:0060737 junctional epidermolysis bullosa Herlitz type skos:exactMatch OMIM:226700 semapv:UnspecifiedMatching DOID:0060738 junctional epidermolysis bullosa non-Herlitz type oboInOwl:hasDbXref ICD10CM:Q81.8 semapv:UnspecifiedMatching -DOID:0060738 junctional epidermolysis bullosa non-Herlitz type oboInOwl:hasDbXref OMIM:226650 semapv:UnspecifiedMatching DOID:0060738 junctional epidermolysis bullosa non-Herlitz type oboInOwl:hasDbXref ORDO:79402 semapv:UnspecifiedMatching DOID:0060738 junctional epidermolysis bullosa non-Herlitz type oboInOwl:hasDbXref ORDO:89840 semapv:UnspecifiedMatching -DOID:0060738 junctional epidermolysis bullosa non-Herlitz type skos:exactMatch OMIM:226650 semapv:UnspecifiedMatching DOID:0060739 hand-foot-genital syndrome oboInOwl:hasDbXref GARD:2594 semapv:UnspecifiedMatching DOID:0060739 hand-foot-genital syndrome oboInOwl:hasDbXref ICD10CM:Q51.2 semapv:UnspecifiedMatching -DOID:0060739 hand-foot-genital syndrome oboInOwl:hasDbXref OMIM:140000 semapv:UnspecifiedMatching DOID:0060739 hand-foot-genital syndrome oboInOwl:hasDbXref ORDO:2438 semapv:UnspecifiedMatching -DOID:0060739 hand-foot-genital syndrome skos:exactMatch OMIM:140000 semapv:UnspecifiedMatching DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency oboInOwl:hasDbXref ICD10CM:E71.1 semapv:UnspecifiedMatching DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency oboInOwl:hasDbXref MESH:C565390 semapv:UnspecifiedMatching -DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency oboInOwl:hasDbXref OMIM:251000 semapv:UnspecifiedMatching DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency oboInOwl:hasDbXref ORDO:27 semapv:UnspecifiedMatching -DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:exactMatch OMIM:251000 semapv:UnspecifiedMatching DOID:0060741 methylmalonic acidemia due to transcobalamin receptor defect oboInOwl:hasDbXref ICD10CM:E71.1 semapv:UnspecifiedMatching -DOID:0060741 methylmalonic acidemia due to transcobalamin receptor defect oboInOwl:hasDbXref OMIM:613646 semapv:UnspecifiedMatching DOID:0060741 methylmalonic acidemia due to transcobalamin receptor defect oboInOwl:hasDbXref ORDO:280183 semapv:UnspecifiedMatching -DOID:0060741 methylmalonic acidemia due to transcobalamin receptor defect skos:exactMatch OMIM:613646 semapv:UnspecifiedMatching DOID:0060742 methylmalonic acidemia cblA type oboInOwl:hasDbXref ICD10CM:E71.1 semapv:UnspecifiedMatching -DOID:0060742 methylmalonic acidemia cblA type oboInOwl:hasDbXref OMIM:251100 semapv:UnspecifiedMatching DOID:0060742 methylmalonic acidemia cblA type oboInOwl:hasDbXref ORDO:79310 semapv:UnspecifiedMatching -DOID:0060742 methylmalonic acidemia cblA type skos:exactMatch OMIM:251100 semapv:UnspecifiedMatching DOID:0060743 methylmalonic acidemia cblB type oboInOwl:hasDbXref ICD10CM:E71.1 semapv:UnspecifiedMatching -DOID:0060743 methylmalonic acidemia cblB type oboInOwl:hasDbXref OMIM:251110 semapv:UnspecifiedMatching DOID:0060743 methylmalonic acidemia cblB type oboInOwl:hasDbXref ORDO:79311 semapv:UnspecifiedMatching -DOID:0060743 methylmalonic acidemia cblB type skos:exactMatch OMIM:251110 semapv:UnspecifiedMatching DOID:0060744 Pendred Syndrome oboInOwl:hasDbXref GARD:4271 semapv:UnspecifiedMatching DOID:0060744 Pendred Syndrome oboInOwl:hasDbXref ICD10CM:E07.1 semapv:UnspecifiedMatching DOID:0060744 Pendred Syndrome oboInOwl:hasDbXref MESH:C536648 semapv:UnspecifiedMatching DOID:0060744 Pendred Syndrome oboInOwl:hasDbXref NCI:C121745 semapv:UnspecifiedMatching -DOID:0060744 Pendred Syndrome oboInOwl:hasDbXref OMIM:274600 semapv:UnspecifiedMatching DOID:0060744 Pendred Syndrome oboInOwl:hasDbXref ORDO:705 semapv:UnspecifiedMatching DOID:0060744 Pendred Syndrome oboInOwl:hasDbXref UMLS:C0271829 semapv:UnspecifiedMatching -DOID:0060744 Pendred Syndrome skos:exactMatch OMIM:274600 semapv:UnspecifiedMatching DOID:0060745 Doyne honeycomb retinal dystrophy oboInOwl:hasDbXref GARD:1912 semapv:UnspecifiedMatching DOID:0060745 Doyne honeycomb retinal dystrophy oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0060745 Doyne honeycomb retinal dystrophy oboInOwl:hasDbXref MESH:C535602 semapv:UnspecifiedMatching -DOID:0060745 Doyne honeycomb retinal dystrophy oboInOwl:hasDbXref OMIM:126600 semapv:UnspecifiedMatching DOID:0060745 Doyne honeycomb retinal dystrophy oboInOwl:hasDbXref ORDO:75376 semapv:UnspecifiedMatching -DOID:0060745 Doyne honeycomb retinal dystrophy skos:exactMatch OMIM:126600 semapv:UnspecifiedMatching DOID:0060746 basal laminar drusen oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0060746 basal laminar drusen oboInOwl:hasDbXref MESH:C563034 semapv:UnspecifiedMatching -DOID:0060746 basal laminar drusen oboInOwl:hasDbXref OMIM:126700 semapv:UnspecifiedMatching DOID:0060746 basal laminar drusen oboInOwl:hasDbXref ORDO:75376 semapv:UnspecifiedMatching -DOID:0060746 basal laminar drusen skos:exactMatch OMIM:126700 semapv:UnspecifiedMatching DOID:0060747 Duane-radial ray syndrome oboInOwl:hasDbXref GARD:9182 semapv:UnspecifiedMatching DOID:0060747 Duane-radial ray syndrome oboInOwl:hasDbXref ICD10CM:Q87.8 semapv:UnspecifiedMatching -DOID:0060747 Duane-radial ray syndrome oboInOwl:hasDbXref OMIM:607323 semapv:UnspecifiedMatching DOID:0060747 Duane-radial ray syndrome oboInOwl:hasDbXref ORDO:93293 semapv:UnspecifiedMatching -DOID:0060747 Duane-radial ray syndrome skos:exactMatch OMIM:607323 semapv:UnspecifiedMatching -DOID:0060748 familial temporal lobe epilepsy 1 oboInOwl:hasDbXref OMIM:600512 semapv:UnspecifiedMatching DOID:0060748 familial temporal lobe epilepsy 1 oboInOwl:hasDbXref ORDO:101046 semapv:UnspecifiedMatching -DOID:0060748 familial temporal lobe epilepsy 1 skos:exactMatch OMIM:600512 semapv:UnspecifiedMatching -DOID:0060749 familial temporal lobe epilepsy 6 oboInOwl:hasDbXref OMIM:615697 semapv:UnspecifiedMatching DOID:0060749 familial temporal lobe epilepsy 6 oboInOwl:hasDbXref ORDO:163717 semapv:UnspecifiedMatching -DOID:0060749 familial temporal lobe epilepsy 6 skos:exactMatch OMIM:615697 semapv:UnspecifiedMatching -DOID:0060750 familial temporal lobe epilepsy 3 oboInOwl:hasDbXref OMIM:611630 semapv:UnspecifiedMatching DOID:0060750 familial temporal lobe epilepsy 3 oboInOwl:hasDbXref ORDO:163717 semapv:UnspecifiedMatching -DOID:0060750 familial temporal lobe epilepsy 3 skos:exactMatch OMIM:611630 semapv:UnspecifiedMatching -DOID:0060751 familial temporal lobe epilepsy 7 oboInOwl:hasDbXref OMIM:616436 semapv:UnspecifiedMatching DOID:0060751 familial temporal lobe epilepsy 7 oboInOwl:hasDbXref ORDO:101046 semapv:UnspecifiedMatching -DOID:0060751 familial temporal lobe epilepsy 7 skos:exactMatch OMIM:616436 semapv:UnspecifiedMatching -DOID:0060752 familial temporal lobe epilepsy 5 oboInOwl:hasDbXref OMIM:614417 semapv:UnspecifiedMatching DOID:0060752 familial temporal lobe epilepsy 5 oboInOwl:hasDbXref ORDO:163717 semapv:UnspecifiedMatching -DOID:0060752 familial temporal lobe epilepsy 5 skos:exactMatch OMIM:614417 semapv:UnspecifiedMatching -DOID:0060753 familial temporal lobe epilepsy 4 oboInOwl:hasDbXref OMIM:611631 semapv:UnspecifiedMatching DOID:0060753 familial temporal lobe epilepsy 4 oboInOwl:hasDbXref ORDO:98819 semapv:UnspecifiedMatching -DOID:0060753 familial temporal lobe epilepsy 4 skos:exactMatch OMIM:611631 semapv:UnspecifiedMatching -DOID:0060754 familial temporal lobe epilepsy 8 oboInOwl:hasDbXref OMIM:616461 semapv:UnspecifiedMatching DOID:0060754 familial temporal lobe epilepsy 8 oboInOwl:hasDbXref ORDO:101046 semapv:UnspecifiedMatching -DOID:0060754 familial temporal lobe epilepsy 8 skos:exactMatch OMIM:616461 semapv:UnspecifiedMatching -DOID:0060755 familial temporal lobe epilepsy 2 oboInOwl:hasDbXref OMIM:608096 semapv:UnspecifiedMatching DOID:0060755 familial temporal lobe epilepsy 2 oboInOwl:hasDbXref ORDO:98819 semapv:UnspecifiedMatching -DOID:0060755 familial temporal lobe epilepsy 2 skos:exactMatch OMIM:608096 semapv:UnspecifiedMatching DOID:0060756 sclerosteosis 1 oboInOwl:hasDbXref ICD10CM:M85.2 semapv:UnspecifiedMatching -DOID:0060756 sclerosteosis 1 oboInOwl:hasDbXref OMIM:269500 semapv:UnspecifiedMatching DOID:0060756 sclerosteosis 1 oboInOwl:hasDbXref ORDO:3152 semapv:UnspecifiedMatching -DOID:0060756 sclerosteosis 1 skos:exactMatch OMIM:269500 semapv:UnspecifiedMatching DOID:0060757 sclerosteosis 2 oboInOwl:hasDbXref ICD10CM:M85.2 semapv:UnspecifiedMatching -DOID:0060757 sclerosteosis 2 oboInOwl:hasDbXref OMIM:614305 semapv:UnspecifiedMatching DOID:0060757 sclerosteosis 2 oboInOwl:hasDbXref ORDO:3152 semapv:UnspecifiedMatching -DOID:0060757 sclerosteosis 2 skos:exactMatch OMIM:614305 semapv:UnspecifiedMatching DOID:0060758 immunodeficiency with hyper-IgM type 2 oboInOwl:hasDbXref GARD:10578 semapv:UnspecifiedMatching DOID:0060758 immunodeficiency with hyper-IgM type 2 oboInOwl:hasDbXref NCI:C129074 semapv:UnspecifiedMatching -DOID:0060758 immunodeficiency with hyper-IgM type 2 oboInOwl:hasDbXref OMIM:605258 semapv:UnspecifiedMatching DOID:0060758 immunodeficiency with hyper-IgM type 2 oboInOwl:hasDbXref ORDO:101089 semapv:UnspecifiedMatching DOID:0060758 immunodeficiency with hyper-IgM type 2 oboInOwl:hasDbXref UMLS:C1720956 semapv:UnspecifiedMatching DOID:0060758 immunodeficiency with hyper-IgM type 2 skos:broadMatch ORDO:183666 semapv:UnspecifiedMatching DOID:0060758 immunodeficiency with hyper-IgM type 2 skos:exactMatch GARD:10578 semapv:UnspecifiedMatching DOID:0060758 immunodeficiency with hyper-IgM type 2 skos:exactMatch NCI:C129074 semapv:UnspecifiedMatching -DOID:0060758 immunodeficiency with hyper-IgM type 2 skos:exactMatch OMIM:605258 semapv:UnspecifiedMatching -DOID:0060758 immunodeficiency with hyper-IgM type 2 skos:exactMatch OMIM:605258 semapv:UnspecifiedMatching DOID:0060758 immunodeficiency with hyper-IgM type 2 skos:exactMatch ORDO:101089 semapv:UnspecifiedMatching DOID:0060758 immunodeficiency with hyper-IgM type 2 skos:exactMatch UMLS:C1720956 semapv:UnspecifiedMatching DOID:0060759 immunodeficiency with hyper IgM type 5 oboInOwl:hasDbXref GARD:10581 semapv:UnspecifiedMatching -DOID:0060759 immunodeficiency with hyper IgM type 5 oboInOwl:hasDbXref OMIM:608106 semapv:UnspecifiedMatching DOID:0060759 immunodeficiency with hyper IgM type 5 oboInOwl:hasDbXref ORDO:101092 semapv:UnspecifiedMatching DOID:0060759 immunodeficiency with hyper IgM type 5 oboInOwl:hasDbXref UMLS:C1720958 semapv:UnspecifiedMatching DOID:0060759 immunodeficiency with hyper IgM type 5 skos:broadMatch ORDO:183666 semapv:UnspecifiedMatching DOID:0060759 immunodeficiency with hyper IgM type 5 skos:exactMatch GARD:10581 semapv:UnspecifiedMatching -DOID:0060759 immunodeficiency with hyper IgM type 5 skos:exactMatch OMIM:608106 semapv:UnspecifiedMatching -DOID:0060759 immunodeficiency with hyper IgM type 5 skos:exactMatch OMIM:608106 semapv:UnspecifiedMatching DOID:0060759 immunodeficiency with hyper IgM type 5 skos:exactMatch ORDO:101092 semapv:UnspecifiedMatching DOID:0060759 immunodeficiency with hyper IgM type 5 skos:exactMatch UMLS:C1720958 semapv:UnspecifiedMatching DOID:0060760 immunodeficiency with hyper-IgM type 4 oboInOwl:hasDbXref GARD:10580 semapv:UnspecifiedMatching DOID:0060760 immunodeficiency with hyper-IgM type 4 oboInOwl:hasDbXref MESH:C564277 semapv:UnspecifiedMatching DOID:0060760 immunodeficiency with hyper-IgM type 4 oboInOwl:hasDbXref NCI:C564277 semapv:UnspecifiedMatching -DOID:0060760 immunodeficiency with hyper-IgM type 4 oboInOwl:hasDbXref OMIM:608184 semapv:UnspecifiedMatching DOID:0060760 immunodeficiency with hyper-IgM type 4 oboInOwl:hasDbXref ORDO:101091 semapv:UnspecifiedMatching DOID:0060760 immunodeficiency with hyper-IgM type 4 oboInOwl:hasDbXref UMLS:C1842413 semapv:UnspecifiedMatching DOID:0060760 immunodeficiency with hyper-IgM type 4 skos:broadMatch ORDO:183666 semapv:UnspecifiedMatching DOID:0060760 immunodeficiency with hyper-IgM type 4 skos:exactMatch GARD:10580 semapv:UnspecifiedMatching DOID:0060760 immunodeficiency with hyper-IgM type 4 skos:exactMatch MESH:C564277 semapv:UnspecifiedMatching DOID:0060760 immunodeficiency with hyper-IgM type 4 skos:exactMatch NCI:C564277 semapv:UnspecifiedMatching -DOID:0060760 immunodeficiency with hyper-IgM type 4 skos:exactMatch OMIM:608184 semapv:UnspecifiedMatching -DOID:0060760 immunodeficiency with hyper-IgM type 4 skos:exactMatch OMIM:608184 semapv:UnspecifiedMatching DOID:0060760 immunodeficiency with hyper-IgM type 4 skos:exactMatch ORDO:101091 semapv:UnspecifiedMatching DOID:0060760 immunodeficiency with hyper-IgM type 4 skos:exactMatch UMLS:C1842413 semapv:UnspecifiedMatching -DOID:0060761 familial chronic myelocytic leukemia-like syndrome oboInOwl:hasDbXref OMIM:600080 semapv:UnspecifiedMatching -DOID:0060761 familial chronic myelocytic leukemia-like syndrome skos:exactMatch OMIM:600080 semapv:UnspecifiedMatching DOID:0060762 restrictive dermopathy oboInOwl:hasDbXref GARD:1516 semapv:UnspecifiedMatching DOID:0060762 restrictive dermopathy oboInOwl:hasDbXref MESH:C536920 semapv:UnspecifiedMatching -DOID:0060762 restrictive dermopathy oboInOwl:hasDbXref OMIMPS:275210 semapv:UnspecifiedMatching DOID:0060762 restrictive dermopathy oboInOwl:hasDbXref ORDO:1662 semapv:UnspecifiedMatching DOID:0060762 restrictive dermopathy oboInOwl:hasDbXref UMLS:C0406585 semapv:UnspecifiedMatching DOID:0060762 restrictive dermopathy skos:exactMatch GARD:1516 semapv:UnspecifiedMatching DOID:0060762 restrictive dermopathy skos:exactMatch MESH:C536920 semapv:UnspecifiedMatching -DOID:0060762 restrictive dermopathy skos:exactMatch OMIM:PS275210 semapv:UnspecifiedMatching -DOID:0060762 restrictive dermopathy skos:exactMatch OMIMPS:275210 semapv:UnspecifiedMatching DOID:0060762 restrictive dermopathy skos:exactMatch ORDO:1662 semapv:UnspecifiedMatching DOID:0060762 restrictive dermopathy skos:exactMatch SNOMEDCT_US_2020_03_01:400128006 semapv:UnspecifiedMatching DOID:0060762 restrictive dermopathy skos:exactMatch UMLS:C0406585 semapv:UnspecifiedMatching DOID:0060763 X-linked juvenile retinoschisis 1 oboInOwl:hasDbXref ICD10CM:Q14.1 semapv:UnspecifiedMatching -DOID:0060763 X-linked juvenile retinoschisis 1 oboInOwl:hasDbXref OMIM:312700 semapv:UnspecifiedMatching DOID:0060763 X-linked juvenile retinoschisis 1 oboInOwl:hasDbXref ORDO:792 semapv:UnspecifiedMatching -DOID:0060763 X-linked juvenile retinoschisis 1 skos:exactMatch OMIM:312700 semapv:UnspecifiedMatching -DOID:0060764 autosomal recessive Robinow syndrome oboInOwl:hasDbXref OMIM:268310 semapv:UnspecifiedMatching DOID:0060764 autosomal recessive Robinow syndrome oboInOwl:hasDbXref ORDO:1507 semapv:UnspecifiedMatching -DOID:0060764 autosomal recessive Robinow syndrome skos:exactMatch OMIM:268310 semapv:UnspecifiedMatching -DOID:0060765 autosomal dominant Robinow syndrome 2 oboInOwl:hasDbXref OMIM:616331 semapv:UnspecifiedMatching DOID:0060765 autosomal dominant Robinow syndrome 2 oboInOwl:hasDbXref ORDO:3107 semapv:UnspecifiedMatching -DOID:0060765 autosomal dominant Robinow syndrome 2 skos:exactMatch OMIM:616331 semapv:UnspecifiedMatching -DOID:0060766 autosomal dominant Robinow syndrome 1 oboInOwl:hasDbXref OMIM:180700 semapv:UnspecifiedMatching DOID:0060766 autosomal dominant Robinow syndrome 1 oboInOwl:hasDbXref ORDO:3107 semapv:UnspecifiedMatching -DOID:0060766 autosomal dominant Robinow syndrome 1 skos:exactMatch OMIM:180700 semapv:UnspecifiedMatching -DOID:0060767 autosomal dominant Robinow syndrome 3 oboInOwl:hasDbXref OMIM:616894 semapv:UnspecifiedMatching DOID:0060767 autosomal dominant Robinow syndrome 3 oboInOwl:hasDbXref ORDO:3107 semapv:UnspecifiedMatching DOID:0060767 autosomal dominant Robinow syndrome 3 oboInOwl:hasDbXref ORDO:97360 semapv:UnspecifiedMatching -DOID:0060767 autosomal dominant Robinow syndrome 3 skos:exactMatch OMIM:616894 semapv:UnspecifiedMatching DOID:0060768 Smith-Magenis syndrome oboInOwl:hasDbXref GARD:8197 semapv:UnspecifiedMatching DOID:0060768 Smith-Magenis syndrome oboInOwl:hasDbXref ICD10CM:Q93.5 semapv:UnspecifiedMatching DOID:0060768 Smith-Magenis syndrome oboInOwl:hasDbXref MESH:D058496 semapv:UnspecifiedMatching -DOID:0060768 Smith-Magenis syndrome oboInOwl:hasDbXref OMIM:182290 semapv:UnspecifiedMatching DOID:0060768 Smith-Magenis syndrome oboInOwl:hasDbXref ORDO:819 semapv:UnspecifiedMatching -DOID:0060768 Smith-Magenis syndrome skos:exactMatch OMIM:182290 semapv:UnspecifiedMatching DOID:0060769 T-cell immunodeficiency, congenital alopecia, and nail dystrophy oboInOwl:hasDbXref ICD10CM:D82.8 semapv:UnspecifiedMatching DOID:0060769 T-cell immunodeficiency, congenital alopecia, and nail dystrophy oboInOwl:hasDbXref MESH:C536781 semapv:UnspecifiedMatching -DOID:0060769 T-cell immunodeficiency, congenital alopecia, and nail dystrophy oboInOwl:hasDbXref OMIM:601705 semapv:UnspecifiedMatching DOID:0060769 T-cell immunodeficiency, congenital alopecia, and nail dystrophy oboInOwl:hasDbXref ORDO:169095 semapv:UnspecifiedMatching -DOID:0060769 T-cell immunodeficiency, congenital alopecia, and nail dystrophy skos:exactMatch OMIM:601705 semapv:UnspecifiedMatching DOID:0060770 dextro-looped transposition of the great arteries oboInOwl:hasDbXref ICD10CM:Q20.3 semapv:UnspecifiedMatching -DOID:0060770 dextro-looped transposition of the great arteries oboInOwl:hasDbXref OMIM:608808 semapv:UnspecifiedMatching DOID:0060770 dextro-looped transposition of the great arteries oboInOwl:hasDbXref ORDO:860 semapv:UnspecifiedMatching -DOID:0060770 dextro-looped transposition of the great arteries skos:exactMatch OMIM:608808 semapv:UnspecifiedMatching DOID:0060772 multiple types of congenital heart defects 6 oboInOwl:hasDbXref ICD10CM:Q20.3 semapv:UnspecifiedMatching -DOID:0060772 multiple types of congenital heart defects 6 oboInOwl:hasDbXref OMIM:613854 semapv:UnspecifiedMatching -DOID:0060772 multiple types of congenital heart defects 6 skos:exactMatch OMIM:613854 semapv:UnspecifiedMatching DOID:0060773 cleft lip-palate-ectodermal dysplasia syndrome oboInOwl:hasDbXref GARD:375 semapv:UnspecifiedMatching -DOID:0060773 cleft lip-palate-ectodermal dysplasia syndrome oboInOwl:hasDbXref OMIM:225060 semapv:UnspecifiedMatching DOID:0060773 cleft lip-palate-ectodermal dysplasia syndrome oboInOwl:hasDbXref ORDO:3253 semapv:UnspecifiedMatching -DOID:0060773 cleft lip-palate-ectodermal dysplasia syndrome skos:exactMatch OMIM:225060 semapv:UnspecifiedMatching -DOID:0060774 congenital diarrhea oboInOwl:hasDbXref OMIMPS:214700 semapv:UnspecifiedMatching -DOID:0060774 congenital diarrhea skos:exactMatch OMIMPS:214700 semapv:UnspecifiedMatching DOID:0060775 microvillus inclusion disease oboInOwl:hasDbXref GARD:7039 semapv:UnspecifiedMatching DOID:0060775 microvillus inclusion disease oboInOwl:hasDbXref ICD10CM:P78.3 semapv:UnspecifiedMatching DOID:0060775 microvillus inclusion disease oboInOwl:hasDbXref MESH:C537470 semapv:UnspecifiedMatching -DOID:0060775 microvillus inclusion disease oboInOwl:hasDbXref OMIM:251850 semapv:UnspecifiedMatching DOID:0060775 microvillus inclusion disease oboInOwl:hasDbXref ORDO:2290 semapv:UnspecifiedMatching -DOID:0060775 microvillus inclusion disease skos:exactMatch OMIM:251850 semapv:UnspecifiedMatching DOID:0060776 congenital diarrhea 5 with tufting enteropathy oboInOwl:hasDbXref ICD10CM:P78.3 semapv:UnspecifiedMatching -DOID:0060776 congenital diarrhea 5 with tufting enteropathy oboInOwl:hasDbXref OMIM:613217 semapv:UnspecifiedMatching DOID:0060776 congenital diarrhea 5 with tufting enteropathy oboInOwl:hasDbXref ORDO:92050 semapv:UnspecifiedMatching -DOID:0060776 congenital diarrhea 5 with tufting enteropathy skos:exactMatch OMIM:613217 semapv:UnspecifiedMatching DOID:0060777 congenital secretory sodium diarrhea 8 oboInOwl:hasDbXref ICD10CM:P78.3 semapv:UnspecifiedMatching -DOID:0060777 congenital secretory sodium diarrhea 8 oboInOwl:hasDbXref OMIM:616868 semapv:UnspecifiedMatching DOID:0060777 congenital secretory sodium diarrhea 8 oboInOwl:hasDbXref ORDO:103908 semapv:UnspecifiedMatching -DOID:0060777 congenital secretory sodium diarrhea 8 skos:exactMatch OMIM:616868 semapv:UnspecifiedMatching DOID:0060778 congenital diarrhea 7 with exudative enteropathy oboInOwl:hasDbXref ICD10CM:P78.3 semapv:UnspecifiedMatching -DOID:0060778 congenital diarrhea 7 with exudative enteropathy oboInOwl:hasDbXref OMIM:615863 semapv:UnspecifiedMatching DOID:0060778 congenital diarrhea 7 with exudative enteropathy oboInOwl:hasDbXref ORDO:329242 semapv:UnspecifiedMatching -DOID:0060778 congenital diarrhea 7 with exudative enteropathy skos:exactMatch OMIM:615863 semapv:UnspecifiedMatching DOID:0060779 congenital malabsorptive diarrhea 4 oboInOwl:hasDbXref ICD10CM:P78.3 semapv:UnspecifiedMatching -DOID:0060779 congenital malabsorptive diarrhea 4 oboInOwl:hasDbXref OMIM:610370 semapv:UnspecifiedMatching DOID:0060779 congenital malabsorptive diarrhea 4 oboInOwl:hasDbXref ORDO:83620 semapv:UnspecifiedMatching -DOID:0060779 congenital malabsorptive diarrhea 4 skos:exactMatch OMIM:610370 semapv:UnspecifiedMatching DOID:0060780 congenital diarrhea 6 oboInOwl:hasDbXref ICD10CM:P78.3 semapv:UnspecifiedMatching -DOID:0060780 congenital diarrhea 6 oboInOwl:hasDbXref OMIM:614616 semapv:UnspecifiedMatching DOID:0060780 congenital diarrhea 6 oboInOwl:hasDbXref ORDO:314373 semapv:UnspecifiedMatching -DOID:0060780 congenital diarrhea 6 skos:exactMatch OMIM:614616 semapv:UnspecifiedMatching DOID:0060781 congenital secretory sodium diarrhea 3 oboInOwl:hasDbXref ICD10CM:P78.3 semapv:UnspecifiedMatching -DOID:0060781 congenital secretory sodium diarrhea 3 oboInOwl:hasDbXref OMIM:270420 semapv:UnspecifiedMatching DOID:0060781 congenital secretory sodium diarrhea 3 oboInOwl:hasDbXref ORDO:103908 semapv:UnspecifiedMatching -DOID:0060781 congenital secretory sodium diarrhea 3 skos:exactMatch OMIM:270420 semapv:UnspecifiedMatching DOID:0060782 EEC syndrome oboInOwl:hasDbXref MESH:C536189 semapv:UnspecifiedMatching DOID:0060782 EEC syndrome oboInOwl:hasDbXref NCI:C148261 semapv:UnspecifiedMatching DOID:0060782 EEC syndrome oboInOwl:hasDbXref ORDO:1896 semapv:UnspecifiedMatching @@ -4137,391 +2523,227 @@ DOID:0060782 EEC syndrome oboInOwl:hasDbXref UMLS:C0406704 semapv:UnspecifiedMat DOID:0060782 EEC syndrome skos:exactMatch MESH:C536189 semapv:UnspecifiedMatching DOID:0060783 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 oboInOwl:hasDbXref MESH:C536189 semapv:UnspecifiedMatching DOID:0060783 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 oboInOwl:hasDbXref NCI:C148261 semapv:UnspecifiedMatching -DOID:0060783 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 oboInOwl:hasDbXref OMIM:604292 semapv:UnspecifiedMatching DOID:0060783 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 oboInOwl:hasDbXref ORDO:1896 semapv:UnspecifiedMatching DOID:0060783 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 oboInOwl:hasDbXref UMLS:C0406704 semapv:UnspecifiedMatching -DOID:0060783 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 skos:exactMatch OMIM:604292 semapv:UnspecifiedMatching DOID:0060784 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 oboInOwl:hasDbXref MESH:C536189 semapv:UnspecifiedMatching DOID:0060784 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 oboInOwl:hasDbXref NCI:C148261 semapv:UnspecifiedMatching -DOID:0060784 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 oboInOwl:hasDbXref OMIM:129900 semapv:UnspecifiedMatching DOID:0060784 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 oboInOwl:hasDbXref ORDO:1896 semapv:UnspecifiedMatching DOID:0060784 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 oboInOwl:hasDbXref UMLS:C0406704 semapv:UnspecifiedMatching -DOID:0060784 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 skos:exactMatch OMIM:129900 semapv:UnspecifiedMatching DOID:0060785 adult-onset autosomal dominant demyelinating leukodystrophy oboInOwl:hasDbXref GARD:10587 semapv:UnspecifiedMatching -DOID:0060785 adult-onset autosomal dominant demyelinating leukodystrophy oboInOwl:hasDbXref OMIM:169500 semapv:UnspecifiedMatching DOID:0060785 adult-onset autosomal dominant demyelinating leukodystrophy oboInOwl:hasDbXref ORDO:99027 semapv:UnspecifiedMatching DOID:0060785 adult-onset autosomal dominant demyelinating leukodystrophy oboInOwl:hasDbXref UMLS:C3164344 semapv:UnspecifiedMatching -DOID:0060785 adult-onset autosomal dominant demyelinating leukodystrophy skos:exactMatch OMIM:169500 semapv:UnspecifiedMatching -DOID:0060786 hypomyelinating leukodystrophy oboInOwl:hasDbXref OMIMPS:312080 semapv:UnspecifiedMatching -DOID:0060786 hypomyelinating leukodystrophy skos:exactMatch OMIMPS:312080 semapv:UnspecifiedMatching DOID:0060787 hypomyelinating leukodystrophy 2 oboInOwl:hasDbXref ICD10CM:E75.2 semapv:UnspecifiedMatching -DOID:0060787 hypomyelinating leukodystrophy 2 oboInOwl:hasDbXref OMIM:608804 semapv:UnspecifiedMatching DOID:0060787 hypomyelinating leukodystrophy 2 oboInOwl:hasDbXref ORDO:280282 semapv:UnspecifiedMatching -DOID:0060787 hypomyelinating leukodystrophy 2 skos:exactMatch OMIM:608804 semapv:UnspecifiedMatching -DOID:0060788 hypomyelinating leukodystrophy 10 oboInOwl:hasDbXref OMIM:616420 semapv:UnspecifiedMatching -DOID:0060788 hypomyelinating leukodystrophy 10 skos:exactMatch OMIM:616420 semapv:UnspecifiedMatching DOID:0060789 hypomyelinating leukodystrophy 4 oboInOwl:hasDbXref ICD10CM:E75.2 semapv:UnspecifiedMatching -DOID:0060789 hypomyelinating leukodystrophy 4 oboInOwl:hasDbXref OMIM:612233 semapv:UnspecifiedMatching DOID:0060789 hypomyelinating leukodystrophy 4 oboInOwl:hasDbXref ORDO:280288 semapv:UnspecifiedMatching -DOID:0060789 hypomyelinating leukodystrophy 4 skos:exactMatch OMIM:612233 semapv:UnspecifiedMatching DOID:0060790 hypomyelinating leukodystrophy 3 oboInOwl:hasDbXref ICD10CM:E75.2 semapv:UnspecifiedMatching -DOID:0060790 hypomyelinating leukodystrophy 3 oboInOwl:hasDbXref OMIM:260600 semapv:UnspecifiedMatching DOID:0060790 hypomyelinating leukodystrophy 3 oboInOwl:hasDbXref ORDO:280293 semapv:UnspecifiedMatching -DOID:0060790 hypomyelinating leukodystrophy 3 skos:exactMatch OMIM:260600 semapv:UnspecifiedMatching DOID:0060791 hypomyelinating leukodystrophy 9 oboInOwl:hasDbXref ICD10CM:E75.2 semapv:UnspecifiedMatching -DOID:0060791 hypomyelinating leukodystrophy 9 oboInOwl:hasDbXref OMIM:616140 semapv:UnspecifiedMatching DOID:0060791 hypomyelinating leukodystrophy 9 oboInOwl:hasDbXref ORDO:438114 semapv:UnspecifiedMatching -DOID:0060791 hypomyelinating leukodystrophy 9 skos:exactMatch OMIM:616140 semapv:UnspecifiedMatching DOID:0060792 hypomyelinating leukodystrophy 11 oboInOwl:hasDbXref ICD10CM:G11.1 semapv:UnspecifiedMatching -DOID:0060792 hypomyelinating leukodystrophy 11 oboInOwl:hasDbXref OMIM:616494 semapv:UnspecifiedMatching -DOID:0060792 hypomyelinating leukodystrophy 11 skos:exactMatch OMIM:616494 semapv:UnspecifiedMatching DOID:0060793 hypomyelinating leukodystrophy 5 oboInOwl:hasDbXref ICD10CM:G37.8 semapv:UnspecifiedMatching -DOID:0060793 hypomyelinating leukodystrophy 5 oboInOwl:hasDbXref OMIM:610532 semapv:UnspecifiedMatching DOID:0060793 hypomyelinating leukodystrophy 5 oboInOwl:hasDbXref ORDO:85163 semapv:UnspecifiedMatching -DOID:0060793 hypomyelinating leukodystrophy 5 skos:exactMatch OMIM:610532 semapv:UnspecifiedMatching DOID:0060794 hypomyelinating leukodystrophy 7 oboInOwl:hasDbXref ICD10CM:G11.1 semapv:UnspecifiedMatching -DOID:0060794 hypomyelinating leukodystrophy 7 oboInOwl:hasDbXref OMIM:607694 semapv:UnspecifiedMatching DOID:0060794 hypomyelinating leukodystrophy 7 oboInOwl:hasDbXref ORDO:137639 semapv:UnspecifiedMatching DOID:0060794 hypomyelinating leukodystrophy 7 oboInOwl:hasDbXref ORDO:447893 semapv:UnspecifiedMatching DOID:0060794 hypomyelinating leukodystrophy 7 oboInOwl:hasDbXref ORDO:447896 semapv:UnspecifiedMatching DOID:0060794 hypomyelinating leukodystrophy 7 oboInOwl:hasDbXref ORDO:77295 semapv:UnspecifiedMatching -DOID:0060794 hypomyelinating leukodystrophy 7 skos:exactMatch OMIM:607694 semapv:UnspecifiedMatching -DOID:0060795 hypomyelinating leukodystrophy 13 oboInOwl:hasDbXref OMIM:616881 semapv:UnspecifiedMatching -DOID:0060795 hypomyelinating leukodystrophy 13 skos:exactMatch OMIM:616881 semapv:UnspecifiedMatching -DOID:0060796 hypomyelinating leukodystrophy 12 oboInOwl:hasDbXref OMIM:616683 semapv:UnspecifiedMatching -DOID:0060796 hypomyelinating leukodystrophy 12 skos:exactMatch OMIM:616683 semapv:UnspecifiedMatching DOID:0060797 hypomyelinating leukodystrophy 8 oboInOwl:hasDbXref ICD10CM:G11.1 semapv:UnspecifiedMatching -DOID:0060797 hypomyelinating leukodystrophy 8 oboInOwl:hasDbXref OMIM:614381 semapv:UnspecifiedMatching -DOID:0060797 hypomyelinating leukodystrophy 8 skos:exactMatch OMIM:614381 semapv:UnspecifiedMatching DOID:0060798 hypomyelinating leukodystrophy 6 oboInOwl:hasDbXref ICD10CM:E75.2 semapv:UnspecifiedMatching -DOID:0060798 hypomyelinating leukodystrophy 6 oboInOwl:hasDbXref OMIM:612438 semapv:UnspecifiedMatching DOID:0060798 hypomyelinating leukodystrophy 6 oboInOwl:hasDbXref ORDO:139441 semapv:UnspecifiedMatching -DOID:0060798 hypomyelinating leukodystrophy 6 skos:exactMatch OMIM:612438 semapv:UnspecifiedMatching DOID:0060799 syndromic X-linked intellectual disability Lubs type oboInOwl:hasDbXref GARD:9781 semapv:UnspecifiedMatching DOID:0060799 syndromic X-linked intellectual disability Lubs type oboInOwl:hasDbXref MESH:C537723 semapv:UnspecifiedMatching DOID:0060799 syndromic X-linked intellectual disability Lubs type oboInOwl:hasDbXref NCI:C126747 semapv:UnspecifiedMatching -DOID:0060799 syndromic X-linked intellectual disability Lubs type oboInOwl:hasDbXref OMIM:300260 semapv:UnspecifiedMatching DOID:0060799 syndromic X-linked intellectual disability Lubs type oboInOwl:hasDbXref ORDO:85281 semapv:UnspecifiedMatching DOID:0060799 syndromic X-linked intellectual disability Lubs type oboInOwl:hasDbXref UMLS:C1846058 semapv:UnspecifiedMatching -DOID:0060799 syndromic X-linked intellectual disability Lubs type skos:exactMatch OMIM:300260 semapv:UnspecifiedMatching DOID:0060800 syndromic X-linked intellectual disability 5 oboInOwl:hasDbXref MESH:C535773 semapv:UnspecifiedMatching DOID:0060800 syndromic X-linked intellectual disability 5 oboInOwl:hasDbXref NCI:C124839 semapv:UnspecifiedMatching -DOID:0060800 syndromic X-linked intellectual disability 5 oboInOwl:hasDbXref OMIM:304340 semapv:UnspecifiedMatching DOID:0060800 syndromic X-linked intellectual disability 5 oboInOwl:hasDbXref ORDO:1568 semapv:UnspecifiedMatching DOID:0060800 syndromic X-linked intellectual disability 5 oboInOwl:hasDbXref ORDO:85335 semapv:UnspecifiedMatching DOID:0060800 syndromic X-linked intellectual disability 5 oboInOwl:hasDbXref UMLS:C0796254 semapv:UnspecifiedMatching -DOID:0060800 syndromic X-linked intellectual disability 5 skos:exactMatch OMIM:304340 semapv:UnspecifiedMatching DOID:0060801 MEHMO syndrome oboInOwl:hasDbXref MESH:C537451 semapv:UnspecifiedMatching -DOID:0060801 MEHMO syndrome oboInOwl:hasDbXref OMIM:300148 semapv:UnspecifiedMatching DOID:0060801 MEHMO syndrome oboInOwl:hasDbXref ORDO:85282 semapv:UnspecifiedMatching DOID:0060801 MEHMO syndrome oboInOwl:hasDbXref UMLS:C1846278 semapv:UnspecifiedMatching -DOID:0060801 MEHMO syndrome skos:exactMatch OMIM:300148 semapv:UnspecifiedMatching DOID:0060802 syndromic X-linked intellectual disability Snyder type oboInOwl:hasDbXref GARD:5615 semapv:UnspecifiedMatching DOID:0060802 syndromic X-linked intellectual disability Snyder type oboInOwl:hasDbXref ICD10CM:Q87.8 semapv:UnspecifiedMatching -DOID:0060802 syndromic X-linked intellectual disability Snyder type oboInOwl:hasDbXref OMIM:309583 semapv:UnspecifiedMatching DOID:0060802 syndromic X-linked intellectual disability Snyder type oboInOwl:hasDbXref ORDO:3063 semapv:UnspecifiedMatching -DOID:0060802 syndromic X-linked intellectual disability Snyder type skos:exactMatch OMIM:309583 semapv:UnspecifiedMatching -DOID:0060803 syndromic X-linked intellectual disability 17 oboInOwl:hasDbXref OMIM:300858 semapv:UnspecifiedMatching DOID:0060803 syndromic X-linked intellectual disability 17 oboInOwl:hasDbXref ORDO:289483 semapv:UnspecifiedMatching -DOID:0060803 syndromic X-linked intellectual disability 17 skos:exactMatch OMIM:300858 semapv:UnspecifiedMatching DOID:0060804 syndromic X-linked intellectual disability 12 oboInOwl:hasDbXref ICD10CM:Q87.8 semapv:UnspecifiedMatching -DOID:0060804 syndromic X-linked intellectual disability 12 oboInOwl:hasDbXref OMIM:309545 semapv:UnspecifiedMatching DOID:0060804 syndromic X-linked intellectual disability 12 oboInOwl:hasDbXref ORDO:85290 semapv:UnspecifiedMatching -DOID:0060804 syndromic X-linked intellectual disability 12 skos:exactMatch OMIM:309545 semapv:UnspecifiedMatching -DOID:0060805 Prieto syndrome oboInOwl:hasDbXref OMIM:309610 semapv:UnspecifiedMatching DOID:0060805 Prieto syndrome oboInOwl:hasDbXref ORDO:2958 semapv:UnspecifiedMatching -DOID:0060805 Prieto syndrome skos:exactMatch OMIM:309610 semapv:UnspecifiedMatching -DOID:0060806 syndromic X-linked intellectual disability Hedera type oboInOwl:hasDbXref OMIM:300423 semapv:UnspecifiedMatching DOID:0060806 syndromic X-linked intellectual disability Hedera type oboInOwl:hasDbXref ORDO:93952 semapv:UnspecifiedMatching -DOID:0060806 syndromic X-linked intellectual disability Hedera type skos:exactMatch OMIM:300423 semapv:UnspecifiedMatching DOID:0060807 syndromic X-linked intellectual disability Najm type oboInOwl:hasDbXref GARD:12669 semapv:UnspecifiedMatching DOID:0060807 syndromic X-linked intellectual disability Najm type oboInOwl:hasDbXref ICD10CM:Q04.3 semapv:UnspecifiedMatching -DOID:0060807 syndromic X-linked intellectual disability Najm type oboInOwl:hasDbXref OMIM:300749 semapv:UnspecifiedMatching DOID:0060807 syndromic X-linked intellectual disability Najm type oboInOwl:hasDbXref ORDO:163937 semapv:UnspecifiedMatching -DOID:0060807 syndromic X-linked intellectual disability Najm type skos:exactMatch OMIM:300749 semapv:UnspecifiedMatching DOID:0060808 syndromic X-linked intellectual disability 7 oboInOwl:hasDbXref GARD:9156 semapv:UnspecifiedMatching DOID:0060808 syndromic X-linked intellectual disability 7 oboInOwl:hasDbXref MESH:C537449 semapv:UnspecifiedMatching -DOID:0060808 syndromic X-linked intellectual disability 7 oboInOwl:hasDbXref OMIM:300218 semapv:UnspecifiedMatching DOID:0060808 syndromic X-linked intellectual disability 7 oboInOwl:hasDbXref ORDO:85274 semapv:UnspecifiedMatching DOID:0060808 syndromic X-linked intellectual disability 7 oboInOwl:hasDbXref UMLS:C1846170 semapv:UnspecifiedMatching -DOID:0060808 syndromic X-linked intellectual disability 7 skos:exactMatch OMIM:300218 semapv:UnspecifiedMatching DOID:0060809 syndromic X-linked intellectual disability Claes-Jensen type oboInOwl:hasDbXref ICD10CM:Q87.8 semapv:UnspecifiedMatching -DOID:0060809 syndromic X-linked intellectual disability Claes-Jensen type oboInOwl:hasDbXref OMIM:300534 semapv:UnspecifiedMatching DOID:0060809 syndromic X-linked intellectual disability Claes-Jensen type oboInOwl:hasDbXref ORDO:85279 semapv:UnspecifiedMatching -DOID:0060809 syndromic X-linked intellectual disability Claes-Jensen type skos:exactMatch OMIM:300534 semapv:UnspecifiedMatching DOID:0060810 syndromic X-linked intellectual disability type 10 oboInOwl:hasDbXref ICD10CM:G25.5 semapv:UnspecifiedMatching -DOID:0060810 syndromic X-linked intellectual disability type 10 oboInOwl:hasDbXref OMIM:300438 semapv:UnspecifiedMatching DOID:0060810 syndromic X-linked intellectual disability type 10 oboInOwl:hasDbXref ORDO:85295 semapv:UnspecifiedMatching -DOID:0060810 syndromic X-linked intellectual disability type 10 skos:exactMatch OMIM:300438 semapv:UnspecifiedMatching DOID:0060811 syndromic X-linked intellectual disability Turner type oboInOwl:hasDbXref ICD10CM:Q87.8 semapv:UnspecifiedMatching -DOID:0060811 syndromic X-linked intellectual disability Turner type oboInOwl:hasDbXref OMIM:309590 semapv:UnspecifiedMatching DOID:0060811 syndromic X-linked intellectual disability Turner type oboInOwl:hasDbXref ORDO:3056 semapv:UnspecifiedMatching DOID:0060811 syndromic X-linked intellectual disability Turner type oboInOwl:hasDbXref ORDO:85328 semapv:UnspecifiedMatching -DOID:0060811 syndromic X-linked intellectual disability Turner type skos:exactMatch OMIM:309590 semapv:UnspecifiedMatching DOID:0060812 syndromic X-linked intellectual disability Siderius type oboInOwl:hasDbXref MESH:C537333 semapv:UnspecifiedMatching -DOID:0060812 syndromic X-linked intellectual disability Siderius type oboInOwl:hasDbXref OMIM:300263 semapv:UnspecifiedMatching DOID:0060812 syndromic X-linked intellectual disability Siderius type oboInOwl:hasDbXref ORDO:85287 semapv:UnspecifiedMatching DOID:0060812 syndromic X-linked intellectual disability Siderius type oboInOwl:hasDbXref UMLS:C1846055 semapv:UnspecifiedMatching -DOID:0060812 syndromic X-linked intellectual disability Siderius type skos:exactMatch OMIM:300263 semapv:UnspecifiedMatching DOID:0060813 syndromic X-linked intellectual disability Shrimpton type oboInOwl:hasDbXref ICD10CM:Q87.8 semapv:UnspecifiedMatching -DOID:0060813 syndromic X-linked intellectual disability Shrimpton type oboInOwl:hasDbXref OMIM:300709 semapv:UnspecifiedMatching DOID:0060813 syndromic X-linked intellectual disability Shrimpton type oboInOwl:hasDbXref ORDO:85324 semapv:UnspecifiedMatching -DOID:0060813 syndromic X-linked intellectual disability Shrimpton type skos:exactMatch OMIM:300709 semapv:UnspecifiedMatching DOID:0060814 Wilson-Turner syndrome oboInOwl:hasDbXref GARD:5579 semapv:UnspecifiedMatching -DOID:0060814 Wilson-Turner syndrome oboInOwl:hasDbXref OMIM:309585 semapv:UnspecifiedMatching DOID:0060814 Wilson-Turner syndrome oboInOwl:hasDbXref ORDO:3459 semapv:UnspecifiedMatching -DOID:0060814 Wilson-Turner syndrome skos:exactMatch OMIM:309585 semapv:UnspecifiedMatching -DOID:0060815 Miles-Carpenter syndrome oboInOwl:hasDbXref OMIM:314580 semapv:UnspecifiedMatching DOID:0060815 Miles-Carpenter syndrome oboInOwl:hasDbXref ORDO:85283 semapv:UnspecifiedMatching DOID:0060815 Miles-Carpenter syndrome oboInOwl:hasDbXref UMLS:C1839735 semapv:UnspecifiedMatching -DOID:0060815 Miles-Carpenter syndrome skos:exactMatch OMIM:314580 semapv:UnspecifiedMatching DOID:0060816 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome oboInOwl:hasDbXref ICD10CM:Q87.8 semapv:UnspecifiedMatching -DOID:0060816 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome oboInOwl:hasDbXref OMIM:300472 semapv:UnspecifiedMatching DOID:0060816 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome oboInOwl:hasDbXref ORDO:52055 semapv:UnspecifiedMatching -DOID:0060816 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome skos:exactMatch OMIM:300472 semapv:UnspecifiedMatching -DOID:0060817 syndromic X-linked intellectual disability 34 oboInOwl:hasDbXref OMIM:300967 semapv:UnspecifiedMatching DOID:0060817 syndromic X-linked intellectual disability 34 oboInOwl:hasDbXref ORDO:466791 semapv:UnspecifiedMatching -DOID:0060817 syndromic X-linked intellectual disability 34 skos:exactMatch OMIM:300967 semapv:UnspecifiedMatching DOID:0060818 syndromic X-linked intellectual disability Abidi type oboInOwl:hasDbXref MESH:C535556 semapv:UnspecifiedMatching -DOID:0060818 syndromic X-linked intellectual disability Abidi type oboInOwl:hasDbXref OMIM:300262 semapv:UnspecifiedMatching DOID:0060818 syndromic X-linked intellectual disability Abidi type oboInOwl:hasDbXref ORDO:85273 semapv:UnspecifiedMatching DOID:0060818 syndromic X-linked intellectual disability Abidi type oboInOwl:hasDbXref UMLS:C1846056 semapv:UnspecifiedMatching -DOID:0060818 syndromic X-linked intellectual disability Abidi type skos:exactMatch OMIM:300262 semapv:UnspecifiedMatching -DOID:0060819 syndromic X-linked intellectual disability Chudley-Schwartz type oboInOwl:hasDbXref OMIM:300861 semapv:UnspecifiedMatching -DOID:0060819 syndromic X-linked intellectual disability Chudley-Schwartz type skos:exactMatch OMIM:300861 semapv:UnspecifiedMatching DOID:0060820 syndromic X-linked intellectual disability Nascimento type oboInOwl:hasDbXref ICD10CM:Q87.8 semapv:UnspecifiedMatching -DOID:0060820 syndromic X-linked intellectual disability Nascimento type oboInOwl:hasDbXref OMIM:300860 semapv:UnspecifiedMatching DOID:0060820 syndromic X-linked intellectual disability Nascimento type oboInOwl:hasDbXref ORDO:163956 semapv:UnspecifiedMatching -DOID:0060820 syndromic X-linked intellectual disability Nascimento type skos:exactMatch OMIM:300860 semapv:UnspecifiedMatching DOID:0060821 syndromic X-linked intellectual disability 14 oboInOwl:hasDbXref MESH:C537724 semapv:UnspecifiedMatching -DOID:0060821 syndromic X-linked intellectual disability 14 oboInOwl:hasDbXref OMIM:300676 semapv:UnspecifiedMatching DOID:0060821 syndromic X-linked intellectual disability 14 oboInOwl:hasDbXref ORDO:323 semapv:UnspecifiedMatching DOID:0060821 syndromic X-linked intellectual disability 14 oboInOwl:hasDbXref ORDO:776 semapv:UnspecifiedMatching DOID:0060821 syndromic X-linked intellectual disability 14 oboInOwl:hasDbXref UMLS:C0796022 semapv:UnspecifiedMatching -DOID:0060821 syndromic X-linked intellectual disability 14 skos:exactMatch OMIM:300676 semapv:UnspecifiedMatching DOID:0060822 syndromic X-linked intellectual disability Cabezas type oboInOwl:hasDbXref GARD:13244 semapv:UnspecifiedMatching DOID:0060822 syndromic X-linked intellectual disability Cabezas type oboInOwl:hasDbXref ICD10CM:Q87.8 semapv:UnspecifiedMatching -DOID:0060822 syndromic X-linked intellectual disability Cabezas type oboInOwl:hasDbXref OMIM:300354 semapv:UnspecifiedMatching DOID:0060822 syndromic X-linked intellectual disability Cabezas type oboInOwl:hasDbXref ORDO:85293 semapv:UnspecifiedMatching -DOID:0060822 syndromic X-linked intellectual disability Cabezas type skos:exactMatch OMIM:300354 semapv:UnspecifiedMatching DOID:0060823 syndromic X-linked intellectual disability 94 oboInOwl:hasDbXref ICD10CM:F72 semapv:UnspecifiedMatching -DOID:0060823 syndromic X-linked intellectual disability 94 oboInOwl:hasDbXref OMIM:300699 semapv:UnspecifiedMatching DOID:0060823 syndromic X-linked intellectual disability 94 oboInOwl:hasDbXref ORDO:364028 semapv:UnspecifiedMatching -DOID:0060823 syndromic X-linked intellectual disability 94 skos:exactMatch OMIM:300699 semapv:UnspecifiedMatching DOID:0060824 syndromic X-linked intellectual disability Raymond type oboInOwl:hasDbXref ICD10CM:Q87.8 semapv:UnspecifiedMatching -DOID:0060824 syndromic X-linked intellectual disability Raymond type oboInOwl:hasDbXref OMIM:300799 semapv:UnspecifiedMatching DOID:0060824 syndromic X-linked intellectual disability Raymond type oboInOwl:hasDbXref ORDO:163953 semapv:UnspecifiedMatching -DOID:0060824 syndromic X-linked intellectual disability Raymond type skos:exactMatch OMIM:300799 semapv:UnspecifiedMatching DOID:0060825 Christianson syndrome oboInOwl:hasDbXref GARD:10572 semapv:UnspecifiedMatching DOID:0060825 Christianson syndrome oboInOwl:hasDbXref MESH:C537450 semapv:UnspecifiedMatching -DOID:0060825 Christianson syndrome oboInOwl:hasDbXref OMIM:300243 semapv:UnspecifiedMatching DOID:0060825 Christianson syndrome oboInOwl:hasDbXref ORDO:85278 semapv:UnspecifiedMatching DOID:0060825 Christianson syndrome oboInOwl:hasDbXref UMLS:C1846130 semapv:UnspecifiedMatching DOID:0060825 Christianson syndrome skos:broadMatch MESH:C567484 semapv:UnspecifiedMatching DOID:0060825 Christianson syndrome skos:exactMatch MESH:C537450 semapv:UnspecifiedMatching -DOID:0060825 Christianson syndrome skos:exactMatch OMIM:300243 semapv:UnspecifiedMatching DOID:0060826 syndromic X-linked intellectual disability Shashi type oboInOwl:hasDbXref ICD10CM:Q87.8 semapv:UnspecifiedMatching -DOID:0060826 syndromic X-linked intellectual disability Shashi type oboInOwl:hasDbXref OMIM:300238 semapv:UnspecifiedMatching DOID:0060826 syndromic X-linked intellectual disability Shashi type oboInOwl:hasDbXref ORDO:85286 semapv:UnspecifiedMatching -DOID:0060826 syndromic X-linked intellectual disability Shashi type skos:exactMatch OMIM:300238 semapv:UnspecifiedMatching DOID:0060827 X-linked intellectual disability-psychosis-macroorchidism syndrome oboInOwl:hasDbXref ICD10CM:F71.1 semapv:UnspecifiedMatching -DOID:0060827 X-linked intellectual disability-psychosis-macroorchidism syndrome oboInOwl:hasDbXref OMIM:300055 semapv:UnspecifiedMatching DOID:0060827 X-linked intellectual disability-psychosis-macroorchidism syndrome oboInOwl:hasDbXref ORDO:3077 semapv:UnspecifiedMatching -DOID:0060827 X-linked intellectual disability-psychosis-macroorchidism syndrome skos:exactMatch OMIM:300055 semapv:UnspecifiedMatching -DOID:0060828 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome oboInOwl:hasDbXref OMIM:300886 semapv:UnspecifiedMatching DOID:0060828 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome oboInOwl:hasDbXref ORDO:324410 semapv:UnspecifiedMatching -DOID:0060828 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome skos:exactMatch OMIM:300886 semapv:UnspecifiedMatching DOID:0060830 deafness-intellectual disability, Martin-Probst type syndrome oboInOwl:hasDbXref ICD10CM:Q87.8 semapv:UnspecifiedMatching -DOID:0060830 deafness-intellectual disability, Martin-Probst type syndrome oboInOwl:hasDbXref OMIM:300519 semapv:UnspecifiedMatching DOID:0060830 deafness-intellectual disability, Martin-Probst type syndrome oboInOwl:hasDbXref ORDO:85321 semapv:UnspecifiedMatching -DOID:0060830 deafness-intellectual disability, Martin-Probst type syndrome skos:exactMatch OMIM:300519 semapv:UnspecifiedMatching DOID:0060831 Griscelli syndrome oboInOwl:hasDbXref GARD:10913 semapv:UnspecifiedMatching DOID:0060831 Griscelli syndrome oboInOwl:hasDbXref ICD10CM:E70.3 semapv:UnspecifiedMatching -DOID:0060831 Griscelli syndrome oboInOwl:hasDbXref OMIMPS:214450 semapv:UnspecifiedMatching DOID:0060831 Griscelli syndrome oboInOwl:hasDbXref ORDO:381 semapv:UnspecifiedMatching -DOID:0060831 Griscelli syndrome skos:exactMatch OMIMPS:214450 semapv:UnspecifiedMatching DOID:0060832 Griscelli syndrome type 1 oboInOwl:hasDbXref GARD:2566 semapv:UnspecifiedMatching DOID:0060832 Griscelli syndrome type 1 oboInOwl:hasDbXref MESH:C537301 semapv:UnspecifiedMatching -DOID:0060832 Griscelli syndrome type 1 oboInOwl:hasDbXref OMIM:214450 semapv:UnspecifiedMatching DOID:0060832 Griscelli syndrome type 1 oboInOwl:hasDbXref ORDO:79476 semapv:UnspecifiedMatching DOID:0060832 Griscelli syndrome type 1 oboInOwl:hasDbXref UMLS:C1859194 semapv:UnspecifiedMatching -DOID:0060832 Griscelli syndrome type 1 skos:exactMatch OMIM:214450 semapv:UnspecifiedMatching DOID:0060833 Griscelli syndrome type 2 oboInOwl:hasDbXref GARD:4483 semapv:UnspecifiedMatching DOID:0060833 Griscelli syndrome type 2 oboInOwl:hasDbXref MESH:C537302 semapv:UnspecifiedMatching DOID:0060833 Griscelli syndrome type 2 oboInOwl:hasDbXref NCI:C111814 semapv:UnspecifiedMatching -DOID:0060833 Griscelli syndrome type 2 oboInOwl:hasDbXref OMIM:607624 semapv:UnspecifiedMatching DOID:0060833 Griscelli syndrome type 2 oboInOwl:hasDbXref ORDO:79477 semapv:UnspecifiedMatching DOID:0060833 Griscelli syndrome type 2 oboInOwl:hasDbXref UMLS:C1868679 semapv:UnspecifiedMatching -DOID:0060833 Griscelli syndrome type 2 skos:exactMatch OMIM:607624 semapv:UnspecifiedMatching DOID:0060834 Griscelli syndrome type 3 oboInOwl:hasDbXref GARD:9715 semapv:UnspecifiedMatching DOID:0060834 Griscelli syndrome type 3 oboInOwl:hasDbXref MESH:C537303 semapv:UnspecifiedMatching -DOID:0060834 Griscelli syndrome type 3 oboInOwl:hasDbXref OMIM:609227 semapv:UnspecifiedMatching DOID:0060834 Griscelli syndrome type 3 oboInOwl:hasDbXref ORDO:79478 semapv:UnspecifiedMatching DOID:0060834 Griscelli syndrome type 3 oboInOwl:hasDbXref UMLS:C1836573 semapv:UnspecifiedMatching -DOID:0060834 Griscelli syndrome type 3 skos:exactMatch OMIM:609227 semapv:UnspecifiedMatching DOID:0060835 isolated microphthalmia 6 oboInOwl:hasDbXref ICD10CM:Q11.0 semapv:UnspecifiedMatching -DOID:0060835 isolated microphthalmia 6 oboInOwl:hasDbXref OMIM:613517 semapv:UnspecifiedMatching DOID:0060835 isolated microphthalmia 6 oboInOwl:hasDbXref ORDO:2542 semapv:UnspecifiedMatching -DOID:0060835 isolated microphthalmia 6 skos:exactMatch OMIM:613517 semapv:UnspecifiedMatching DOID:0060836 isolated microphthalmia 4 oboInOwl:hasDbXref ICD10CM:Q11.0 semapv:UnspecifiedMatching -DOID:0060836 isolated microphthalmia 4 oboInOwl:hasDbXref OMIM:613094 semapv:UnspecifiedMatching DOID:0060836 isolated microphthalmia 4 oboInOwl:hasDbXref ORDO:2542 semapv:UnspecifiedMatching -DOID:0060836 isolated microphthalmia 4 skos:exactMatch OMIM:613094 semapv:UnspecifiedMatching DOID:0060837 isolated microphthalmia 5 oboInOwl:hasDbXref ICD10CM:Q15.8 semapv:UnspecifiedMatching -DOID:0060837 isolated microphthalmia 5 oboInOwl:hasDbXref OMIM:611040 semapv:UnspecifiedMatching DOID:0060837 isolated microphthalmia 5 oboInOwl:hasDbXref ORDO:251279 semapv:UnspecifiedMatching -DOID:0060837 isolated microphthalmia 5 skos:exactMatch OMIM:611040 semapv:UnspecifiedMatching DOID:0060838 isolated microphthalmia 7 oboInOwl:hasDbXref ICD10CM:Q11.0 semapv:UnspecifiedMatching -DOID:0060838 isolated microphthalmia 7 oboInOwl:hasDbXref OMIM:613704 semapv:UnspecifiedMatching DOID:0060838 isolated microphthalmia 7 oboInOwl:hasDbXref ORDO:2542 semapv:UnspecifiedMatching -DOID:0060838 isolated microphthalmia 7 skos:exactMatch OMIM:613704 semapv:UnspecifiedMatching DOID:0060839 isolated microphthalmia 2 oboInOwl:hasDbXref ICD10CM:Q11.0 semapv:UnspecifiedMatching -DOID:0060839 isolated microphthalmia 2 oboInOwl:hasDbXref OMIM:610093 semapv:UnspecifiedMatching DOID:0060839 isolated microphthalmia 2 oboInOwl:hasDbXref ORDO:2542 semapv:UnspecifiedMatching -DOID:0060839 isolated microphthalmia 2 skos:exactMatch OMIM:610093 semapv:UnspecifiedMatching DOID:0060840 isolated microphthalmia 1 oboInOwl:hasDbXref ICD10CM:Q11.0 semapv:UnspecifiedMatching -DOID:0060840 isolated microphthalmia 1 oboInOwl:hasDbXref OMIM:251600 semapv:UnspecifiedMatching DOID:0060840 isolated microphthalmia 1 oboInOwl:hasDbXref ORDO:2542 semapv:UnspecifiedMatching -DOID:0060840 isolated microphthalmia 1 skos:exactMatch OMIM:251600 semapv:UnspecifiedMatching DOID:0060841 isolated microphthalmia 8 oboInOwl:hasDbXref ICD10CM:Q11.0 semapv:UnspecifiedMatching -DOID:0060841 isolated microphthalmia 8 oboInOwl:hasDbXref OMIM:615113 semapv:UnspecifiedMatching DOID:0060841 isolated microphthalmia 8 oboInOwl:hasDbXref ORDO:2542 semapv:UnspecifiedMatching -DOID:0060841 isolated microphthalmia 8 skos:exactMatch OMIM:615113 semapv:UnspecifiedMatching DOID:0060842 isolated microphthalmia 3 oboInOwl:hasDbXref ICD10CM:Q11.0 semapv:UnspecifiedMatching -DOID:0060842 isolated microphthalmia 3 oboInOwl:hasDbXref OMIM:611038 semapv:UnspecifiedMatching DOID:0060842 isolated microphthalmia 3 oboInOwl:hasDbXref ORDO:2542 semapv:UnspecifiedMatching -DOID:0060842 isolated microphthalmia 3 skos:exactMatch OMIM:611038 semapv:UnspecifiedMatching DOID:0060843 hereditary neuropathy with liability to pressure palsies oboInOwl:hasDbXref MESH:C536965 semapv:UnspecifiedMatching -DOID:0060843 hereditary neuropathy with liability to pressure palsies oboInOwl:hasDbXref OMIM:162500 semapv:UnspecifiedMatching DOID:0060843 hereditary neuropathy with liability to pressure palsies oboInOwl:hasDbXref ORDO:640 semapv:UnspecifiedMatching DOID:0060843 hereditary neuropathy with liability to pressure palsies oboInOwl:hasDbXref UMLS:C0393814 semapv:UnspecifiedMatching -DOID:0060843 hereditary neuropathy with liability to pressure palsies skos:exactMatch OMIM:162500 semapv:UnspecifiedMatching DOID:0060844 Norrie disease oboInOwl:hasDbXref GARD:7224 semapv:UnspecifiedMatching DOID:0060844 Norrie disease oboInOwl:hasDbXref MESH:C537849 semapv:UnspecifiedMatching DOID:0060844 Norrie disease oboInOwl:hasDbXref NCI:C118634 semapv:UnspecifiedMatching -DOID:0060844 Norrie disease oboInOwl:hasDbXref OMIM:310600 semapv:UnspecifiedMatching DOID:0060844 Norrie disease oboInOwl:hasDbXref ORDO:649 semapv:UnspecifiedMatching DOID:0060844 Norrie disease oboInOwl:hasDbXref UMLS:C0266526 semapv:UnspecifiedMatching -DOID:0060844 Norrie disease skos:exactMatch OMIM:310600 semapv:UnspecifiedMatching DOID:0060847 Leri-Weill dyschondrosteosis oboInOwl:hasDbXref GARD:3224 semapv:UnspecifiedMatching DOID:0060847 Leri-Weill dyschondrosteosis oboInOwl:hasDbXref MESH:C537119 semapv:UnspecifiedMatching DOID:0060847 Leri-Weill dyschondrosteosis oboInOwl:hasDbXref NCI:C126560 semapv:UnspecifiedMatching -DOID:0060847 Leri-Weill dyschondrosteosis oboInOwl:hasDbXref OMIM:127300 semapv:UnspecifiedMatching DOID:0060847 Leri-Weill dyschondrosteosis oboInOwl:hasDbXref ORDO:240 semapv:UnspecifiedMatching DOID:0060847 Leri-Weill dyschondrosteosis oboInOwl:hasDbXref UMLS:C0265309 semapv:UnspecifiedMatching -DOID:0060847 Leri-Weill dyschondrosteosis skos:exactMatch OMIM:127300 semapv:UnspecifiedMatching DOID:0060848 developmental and epileptic encephalopathy 9 oboInOwl:hasDbXref GARD:10806 semapv:UnspecifiedMatching -DOID:0060848 developmental and epileptic encephalopathy 9 oboInOwl:hasDbXref OMIM:300088 semapv:UnspecifiedMatching DOID:0060848 developmental and epileptic encephalopathy 9 oboInOwl:hasDbXref ORDO:101039 semapv:UnspecifiedMatching -DOID:0060848 developmental and epileptic encephalopathy 9 skos:exactMatch OMIM:300088 semapv:UnspecifiedMatching DOID:0060849 osteoporosis-pseudoglioma syndrome oboInOwl:hasDbXref GARD:4160 semapv:UnspecifiedMatching DOID:0060849 osteoporosis-pseudoglioma syndrome oboInOwl:hasDbXref MESH:C536063 semapv:UnspecifiedMatching DOID:0060849 osteoporosis-pseudoglioma syndrome oboInOwl:hasDbXref NCI:C130998 semapv:UnspecifiedMatching -DOID:0060849 osteoporosis-pseudoglioma syndrome oboInOwl:hasDbXref OMIM:259770 semapv:UnspecifiedMatching DOID:0060849 osteoporosis-pseudoglioma syndrome oboInOwl:hasDbXref ORDO:2788 semapv:UnspecifiedMatching DOID:0060849 osteoporosis-pseudoglioma syndrome oboInOwl:hasDbXref UMLS:C0432252 semapv:UnspecifiedMatching -DOID:0060849 osteoporosis-pseudoglioma syndrome skos:exactMatch OMIM:259770 semapv:UnspecifiedMatching DOID:0060850 annular pancreas oboInOwl:hasDbXref GARD:705 semapv:UnspecifiedMatching DOID:0060850 annular pancreas oboInOwl:hasDbXref ICD10CM:Q45.1 semapv:UnspecifiedMatching DOID:0060850 annular pancreas oboInOwl:hasDbXref MESH:C536376 semapv:UnspecifiedMatching DOID:0060850 annular pancreas oboInOwl:hasDbXref NCI:C98813 semapv:UnspecifiedMatching -DOID:0060850 annular pancreas oboInOwl:hasDbXref OMIM:167750 semapv:UnspecifiedMatching DOID:0060850 annular pancreas oboInOwl:hasDbXref ORDO:675 semapv:UnspecifiedMatching DOID:0060850 annular pancreas oboInOwl:hasDbXref UMLS:C0149955 semapv:UnspecifiedMatching -DOID:0060850 annular pancreas skos:exactMatch OMIM:167750 semapv:UnspecifiedMatching DOID:0060851 pemphigus vulgaris oboInOwl:hasDbXref GARD:7355 semapv:UnspecifiedMatching DOID:0060851 pemphigus vulgaris oboInOwl:hasDbXref ICD10CM:L10.0 semapv:UnspecifiedMatching DOID:0060851 pemphigus vulgaris oboInOwl:hasDbXref MESH:D010392 semapv:UnspecifiedMatching DOID:0060851 pemphigus vulgaris oboInOwl:hasDbXref NCI:C34910 semapv:UnspecifiedMatching -DOID:0060851 pemphigus vulgaris oboInOwl:hasDbXref OMIM:169610 semapv:UnspecifiedMatching DOID:0060851 pemphigus vulgaris oboInOwl:hasDbXref ORDO:704 semapv:UnspecifiedMatching DOID:0060851 pemphigus vulgaris oboInOwl:hasDbXref UMLS:C0030809 semapv:UnspecifiedMatching -DOID:0060851 pemphigus vulgaris skos:exactMatch OMIM:169610 semapv:UnspecifiedMatching DOID:0060852 Pierson syndrome oboInOwl:hasDbXref GARD:9420 semapv:UnspecifiedMatching DOID:0060852 Pierson syndrome oboInOwl:hasDbXref MESH:C537185 semapv:UnspecifiedMatching DOID:0060852 Pierson syndrome oboInOwl:hasDbXref NCI:C128145 semapv:UnspecifiedMatching -DOID:0060852 Pierson syndrome oboInOwl:hasDbXref OMIM:609049 semapv:UnspecifiedMatching DOID:0060852 Pierson syndrome oboInOwl:hasDbXref ORDO:2670 semapv:UnspecifiedMatching DOID:0060852 Pierson syndrome oboInOwl:hasDbXref UMLS:C1836876 semapv:UnspecifiedMatching -DOID:0060852 Pierson syndrome skos:exactMatch OMIM:609049 semapv:UnspecifiedMatching DOID:0060853 Potocki-Lupski syndrome oboInOwl:hasDbXref GARD:10145 semapv:UnspecifiedMatching DOID:0060853 Potocki-Lupski syndrome oboInOwl:hasDbXref MESH:C538355 semapv:UnspecifiedMatching DOID:0060853 Potocki-Lupski syndrome oboInOwl:hasDbXref NCI:C124846 semapv:UnspecifiedMatching -DOID:0060853 Potocki-Lupski syndrome oboInOwl:hasDbXref OMIM:610883 semapv:UnspecifiedMatching DOID:0060853 Potocki-Lupski syndrome oboInOwl:hasDbXref ORDO:1713 semapv:UnspecifiedMatching DOID:0060853 Potocki-Lupski syndrome oboInOwl:hasDbXref UMLS:C2931246 semapv:UnspecifiedMatching -DOID:0060853 Potocki-Lupski syndrome skos:exactMatch OMIM:610883 semapv:UnspecifiedMatching DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 oboInOwl:hasDbXref GARD:4552 semapv:UnspecifiedMatching DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 oboInOwl:hasDbXref MESH:D011546 semapv:UnspecifiedMatching DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 oboInOwl:hasDbXref NCI:C123251 semapv:UnspecifiedMatching -DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 oboInOwl:hasDbXref OMIM:264350 semapv:UnspecifiedMatching DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 oboInOwl:hasDbXref ORDO:171876 semapv:UnspecifiedMatching DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 oboInOwl:hasDbXref ORDO:756 semapv:UnspecifiedMatching DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 oboInOwl:hasDbXref UMLS:C0268436 semapv:UnspecifiedMatching -DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 skos:exactMatch OMIM:264350 semapv:UnspecifiedMatching DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 oboInOwl:hasDbXref GARD:9145 semapv:UnspecifiedMatching DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 oboInOwl:hasDbXref MESH:D011546 semapv:UnspecifiedMatching -DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 oboInOwl:hasDbXref OMIM:177735 semapv:UnspecifiedMatching DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 oboInOwl:hasDbXref ORDO:756 semapv:UnspecifiedMatching DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 oboInOwl:hasDbXref UMLS:C1449843 semapv:UnspecifiedMatching -DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 skos:exactMatch OMIM:177735 semapv:UnspecifiedMatching DOID:0060856 right atrial isomerism oboInOwl:hasDbXref ICD10CM:Q20.6 semapv:UnspecifiedMatching -DOID:0060856 right atrial isomerism oboInOwl:hasDbXref OMIM:208530 semapv:UnspecifiedMatching DOID:0060856 right atrial isomerism oboInOwl:hasDbXref ORDO:97548 semapv:UnspecifiedMatching -DOID:0060856 right atrial isomerism skos:exactMatch OMIM:208530 semapv:UnspecifiedMatching DOID:0060857 septooptic dysplasia oboInOwl:hasDbXref GARD:7627 semapv:UnspecifiedMatching DOID:0060857 septooptic dysplasia oboInOwl:hasDbXref MESH:D025962 semapv:UnspecifiedMatching DOID:0060857 septooptic dysplasia oboInOwl:hasDbXref NCI:C85063 semapv:UnspecifiedMatching -DOID:0060857 septooptic dysplasia oboInOwl:hasDbXref OMIM:182230 semapv:UnspecifiedMatching DOID:0060857 septooptic dysplasia oboInOwl:hasDbXref ORDO:3157 semapv:UnspecifiedMatching DOID:0060857 septooptic dysplasia oboInOwl:hasDbXref UMLS:C0338503 semapv:UnspecifiedMatching -DOID:0060857 septooptic dysplasia skos:exactMatch OMIM:182230 semapv:UnspecifiedMatching DOID:0060858 hypotonia-cystinuria syndrome oboInOwl:hasDbXref ICD10CM:E72.0 semapv:UnspecifiedMatching DOID:0060858 hypotonia-cystinuria syndrome oboInOwl:hasDbXref MESH:C564710 semapv:UnspecifiedMatching -DOID:0060858 hypotonia-cystinuria syndrome oboInOwl:hasDbXref OMIM:606407 semapv:UnspecifiedMatching DOID:0060858 hypotonia-cystinuria syndrome oboInOwl:hasDbXref ORDO:163690 semapv:UnspecifiedMatching -DOID:0060858 hypotonia-cystinuria syndrome skos:exactMatch OMIM:606407 semapv:UnspecifiedMatching DOID:0060859 salmonellosis oboInOwl:hasDbXref ICD10CM:A02.0 semapv:UnspecifiedMatching DOID:0060859 salmonellosis oboInOwl:hasDbXref ICD9CM:003.0 semapv:UnspecifiedMatching DOID:0060861 microphthalmia with limb anomalies oboInOwl:hasDbXref ICD10CM:Q87.2 semapv:UnspecifiedMatching -DOID:0060861 microphthalmia with limb anomalies oboInOwl:hasDbXref OMIM:206920 semapv:UnspecifiedMatching DOID:0060861 microphthalmia with limb anomalies oboInOwl:hasDbXref ORDO:1106 semapv:UnspecifiedMatching -DOID:0060861 microphthalmia with limb anomalies skos:exactMatch OMIM:206920 semapv:UnspecifiedMatching DOID:0060862 mal de Meleda oboInOwl:hasDbXref ICD10CM:Q82.8 semapv:UnspecifiedMatching -DOID:0060862 mal de Meleda oboInOwl:hasDbXref OMIM:248300 semapv:UnspecifiedMatching DOID:0060862 mal de Meleda oboInOwl:hasDbXref ORDO:87503 semapv:UnspecifiedMatching -DOID:0060862 mal de Meleda skos:exactMatch OMIM:248300 semapv:UnspecifiedMatching DOID:0060863 patterned macular dystrophy oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0060863 patterned macular dystrophy oboInOwl:hasDbXref OMIMPS:169150 semapv:UnspecifiedMatching DOID:0060863 patterned macular dystrophy oboInOwl:hasDbXref ORDO:99001 semapv:UnspecifiedMatching -DOID:0060863 patterned macular dystrophy skos:exactMatch OMIMPS:169150 semapv:UnspecifiedMatching -DOID:0060864 patterned macular dystrophy 2 oboInOwl:hasDbXref OMIM:608970 semapv:UnspecifiedMatching -DOID:0060864 patterned macular dystrophy 2 skos:exactMatch OMIM:608970 semapv:UnspecifiedMatching -DOID:0060865 patterned macular dystrophy 3 oboInOwl:hasDbXref OMIM:617111 semapv:UnspecifiedMatching -DOID:0060865 patterned macular dystrophy 3 skos:exactMatch OMIM:617111 semapv:UnspecifiedMatching -DOID:0060866 patterned macular dystrophy 1 oboInOwl:hasDbXref OMIM:169150 semapv:UnspecifiedMatching -DOID:0060866 patterned macular dystrophy 1 skos:exactMatch OMIM:169150 semapv:UnspecifiedMatching DOID:0060867 macrocephaly-autism syndrome oboInOwl:hasDbXref MESH:C565342 semapv:UnspecifiedMatching -DOID:0060867 macrocephaly-autism syndrome oboInOwl:hasDbXref OMIM:605309 semapv:UnspecifiedMatching DOID:0060867 macrocephaly-autism syndrome oboInOwl:hasDbXref ORDO:210548 semapv:UnspecifiedMatching -DOID:0060867 macrocephaly-autism syndrome skos:exactMatch OMIM:605309 semapv:UnspecifiedMatching DOID:0060868 leukoencephalopathy with vanishing white matter oboInOwl:hasDbXref GARD:231 semapv:UnspecifiedMatching DOID:0060868 leukoencephalopathy with vanishing white matter oboInOwl:hasDbXref ICD10CM:E75.2 semapv:UnspecifiedMatching -DOID:0060868 leukoencephalopathy with vanishing white matter oboInOwl:hasDbXref OMIMPS:603896 semapv:UnspecifiedMatching DOID:0060868 leukoencephalopathy with vanishing white matter oboInOwl:hasDbXref ORDO:135 semapv:UnspecifiedMatching DOID:0060868 leukoencephalopathy with vanishing white matter oboInOwl:hasDbXref ORDO:157713 semapv:UnspecifiedMatching DOID:0060868 leukoencephalopathy with vanishing white matter oboInOwl:hasDbXref ORDO:157716 semapv:UnspecifiedMatching DOID:0060868 leukoencephalopathy with vanishing white matter oboInOwl:hasDbXref ORDO:157719 semapv:UnspecifiedMatching -DOID:0060868 leukoencephalopathy with vanishing white matter skos:exactMatch OMIMPS:603896 semapv:UnspecifiedMatching DOID:0060868 leukoencephalopathy with vanishing white matter skos:narrowMatch ORDO:157713 semapv:UnspecifiedMatching DOID:0060868 leukoencephalopathy with vanishing white matter skos:narrowMatch ORDO:157716 semapv:UnspecifiedMatching DOID:0060868 leukoencephalopathy with vanishing white matter skos:narrowMatch ORDO:157719 semapv:UnspecifiedMatching DOID:0060868 leukoencephalopathy with vanishing white matter skos:relatedMatch ORDO:99853 semapv:UnspecifiedMatching DOID:0060869 late-onset retinal degeneration oboInOwl:hasDbXref GARD:4357 semapv:UnspecifiedMatching DOID:0060869 late-onset retinal degeneration oboInOwl:hasDbXref MESH:C565309 semapv:UnspecifiedMatching -DOID:0060869 late-onset retinal degeneration oboInOwl:hasDbXref OMIM:605670 semapv:UnspecifiedMatching DOID:0060869 late-onset retinal degeneration oboInOwl:hasDbXref ORDO:67042 semapv:UnspecifiedMatching -DOID:0060869 late-onset retinal degeneration skos:exactMatch OMIM:605670 semapv:UnspecifiedMatching DOID:0060870 isolated growth hormone deficiency oboInOwl:hasDbXref GARD:12556 semapv:UnspecifiedMatching DOID:0060870 isolated growth hormone deficiency oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching DOID:0060870 isolated growth hormone deficiency oboInOwl:hasDbXref ICD9CM:253.3 semapv:UnspecifiedMatching @@ -4530,114 +2752,63 @@ DOID:0060870 isolated growth hormone deficiency oboInOwl:hasDbXref NCI:C34555 se DOID:0060870 isolated growth hormone deficiency oboInOwl:hasDbXref ORDO:631 semapv:UnspecifiedMatching DOID:0060870 isolated growth hormone deficiency oboInOwl:hasDbXref UMLS:C0013338 semapv:UnspecifiedMatching DOID:0060871 autosomal dominant keratitis-ichthyosis-deafness syndrome oboInOwl:hasDbXref ICD10CM:Q80.8 semapv:UnspecifiedMatching -DOID:0060871 autosomal dominant keratitis-ichthyosis-deafness syndrome oboInOwl:hasDbXref OMIM:148210 semapv:UnspecifiedMatching DOID:0060871 autosomal dominant keratitis-ichthyosis-deafness syndrome oboInOwl:hasDbXref ORDO:477 semapv:UnspecifiedMatching -DOID:0060871 autosomal dominant keratitis-ichthyosis-deafness syndrome skos:exactMatch OMIM:148210 semapv:UnspecifiedMatching DOID:0060872 isolated growth hormone deficiency type II oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching DOID:0060872 isolated growth hormone deficiency type II oboInOwl:hasDbXref MESH:C562704 semapv:UnspecifiedMatching -DOID:0060872 isolated growth hormone deficiency type II oboInOwl:hasDbXref OMIM:173100 semapv:UnspecifiedMatching DOID:0060872 isolated growth hormone deficiency type II oboInOwl:hasDbXref ORDO:231679 semapv:UnspecifiedMatching -DOID:0060872 isolated growth hormone deficiency type II skos:exactMatch OMIM:173100 semapv:UnspecifiedMatching DOID:0060873 isolated growth hormone deficiency type IA oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching -DOID:0060873 isolated growth hormone deficiency type IA oboInOwl:hasDbXref OMIM:262400 semapv:UnspecifiedMatching DOID:0060873 isolated growth hormone deficiency type IA oboInOwl:hasDbXref ORDO:231662 semapv:UnspecifiedMatching -DOID:0060873 isolated growth hormone deficiency type IA skos:exactMatch OMIM:262400 semapv:UnspecifiedMatching DOID:0060874 isolated growth hormone deficiency type IB oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching -DOID:0060874 isolated growth hormone deficiency type IB oboInOwl:hasDbXref OMIM:612781 semapv:UnspecifiedMatching -DOID:0060874 isolated growth hormone deficiency type IB oboInOwl:hasDbXref OMIM:618157 semapv:UnspecifiedMatching DOID:0060874 isolated growth hormone deficiency type IB oboInOwl:hasDbXref ORDO:231671 semapv:UnspecifiedMatching -DOID:0060874 isolated growth hormone deficiency type IB skos:exactMatch OMIM:618157 semapv:UnspecifiedMatching DOID:0060875 isolated growth hormone deficiency type III oboInOwl:hasDbXref GARD:3921 semapv:UnspecifiedMatching DOID:0060875 isolated growth hormone deficiency type III oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching -DOID:0060875 isolated growth hormone deficiency type III oboInOwl:hasDbXref OMIM:307200 semapv:UnspecifiedMatching DOID:0060875 isolated growth hormone deficiency type III oboInOwl:hasDbXref ORDO:231692 semapv:UnspecifiedMatching -DOID:0060875 isolated growth hormone deficiency type III skos:exactMatch OMIM:307200 semapv:UnspecifiedMatching DOID:0060877 bullous congenital ichthyosiform erythroderma oboInOwl:hasDbXref GARD:2966 semapv:UnspecifiedMatching DOID:0060877 bullous congenital ichthyosiform erythroderma oboInOwl:hasDbXref MESH:D053560 semapv:UnspecifiedMatching DOID:0060877 bullous congenital ichthyosiform erythroderma oboInOwl:hasDbXref NCI:C84777 semapv:UnspecifiedMatching -DOID:0060877 bullous congenital ichthyosiform erythroderma oboInOwl:hasDbXref OMIM:146800 semapv:UnspecifiedMatching DOID:0060877 bullous congenital ichthyosiform erythroderma oboInOwl:hasDbXref ORDO:455 semapv:UnspecifiedMatching DOID:0060877 bullous congenital ichthyosiform erythroderma oboInOwl:hasDbXref UMLS:C0432306 semapv:UnspecifiedMatching -DOID:0060877 bullous congenital ichthyosiform erythroderma skos:exactMatch OMIM:146800 semapv:UnspecifiedMatching DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome oboInOwl:hasDbXref MESH:C537907 semapv:UnspecifiedMatching DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome oboInOwl:hasDbXref NCI:C130983 semapv:UnspecifiedMatching -DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome oboInOwl:hasDbXref OMIM:146255 semapv:UnspecifiedMatching DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome oboInOwl:hasDbXref ORDO:2237 semapv:UnspecifiedMatching DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome oboInOwl:hasDbXref UMLS:C1840333 semapv:UnspecifiedMatching -DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome skos:exactMatch OMIM:146255 semapv:UnspecifiedMatching DOID:0060879 primary hypomagnesemia oboInOwl:hasDbXref ICD10CM:E83.4 semapv:UnspecifiedMatching -DOID:0060879 primary hypomagnesemia oboInOwl:hasDbXref OMIMPS:602014 semapv:UnspecifiedMatching DOID:0060879 primary hypomagnesemia oboInOwl:hasDbXref ORDO:34526 semapv:UnspecifiedMatching -DOID:0060879 primary hypomagnesemia skos:exactMatch OMIMPS:602014 semapv:UnspecifiedMatching DOID:0060880 renal hypomagnesemia 3 oboInOwl:hasDbXref ICD10CM:E83.4 semapv:UnspecifiedMatching -DOID:0060880 renal hypomagnesemia 3 oboInOwl:hasDbXref OMIM:248250 semapv:UnspecifiedMatching DOID:0060880 renal hypomagnesemia 3 oboInOwl:hasDbXref ORDO:31043 semapv:UnspecifiedMatching -DOID:0060880 renal hypomagnesemia 3 skos:exactMatch OMIM:248250 semapv:UnspecifiedMatching DOID:0060881 renal hypomagnesemia 5 with ocular involvement oboInOwl:hasDbXref MESH:C536148 semapv:UnspecifiedMatching -DOID:0060881 renal hypomagnesemia 5 with ocular involvement oboInOwl:hasDbXref OMIM:248190 semapv:UnspecifiedMatching DOID:0060881 renal hypomagnesemia 5 with ocular involvement oboInOwl:hasDbXref ORDO:2196 semapv:UnspecifiedMatching DOID:0060881 renal hypomagnesemia 5 with ocular involvement oboInOwl:hasDbXref UMLS:C2931121 semapv:UnspecifiedMatching -DOID:0060881 renal hypomagnesemia 5 with ocular involvement skos:exactMatch OMIM:248190 semapv:UnspecifiedMatching DOID:0060882 renal hypomagnesemia 4 oboInOwl:hasDbXref ICD10CM:E83.4 semapv:UnspecifiedMatching -DOID:0060882 renal hypomagnesemia 4 oboInOwl:hasDbXref OMIM:611718 semapv:UnspecifiedMatching DOID:0060882 renal hypomagnesemia 4 oboInOwl:hasDbXref ORDO:34527 semapv:UnspecifiedMatching -DOID:0060882 renal hypomagnesemia 4 skos:exactMatch OMIM:611718 semapv:UnspecifiedMatching DOID:0060883 intestinal hypomagnesemia 1 oboInOwl:hasDbXref ICD10CM:E83.4 semapv:UnspecifiedMatching -DOID:0060883 intestinal hypomagnesemia 1 oboInOwl:hasDbXref OMIM:602014 semapv:UnspecifiedMatching DOID:0060883 intestinal hypomagnesemia 1 oboInOwl:hasDbXref ORDO:30924 semapv:UnspecifiedMatching -DOID:0060883 intestinal hypomagnesemia 1 skos:exactMatch OMIM:602014 semapv:UnspecifiedMatching DOID:0060884 renal hypomagnesemia 6 oboInOwl:hasDbXref GARD:12155 semapv:UnspecifiedMatching DOID:0060884 renal hypomagnesemia 6 oboInOwl:hasDbXref ICD10CM:E83.4 semapv:UnspecifiedMatching -DOID:0060884 renal hypomagnesemia 6 oboInOwl:hasDbXref OMIM:613882 semapv:UnspecifiedMatching DOID:0060884 renal hypomagnesemia 6 oboInOwl:hasDbXref ORDO:34527 semapv:UnspecifiedMatching -DOID:0060884 renal hypomagnesemia 6 skos:exactMatch OMIM:613882 semapv:UnspecifiedMatching DOID:0060885 renal hypomagnesemia 2 oboInOwl:hasDbXref GARD:3350 semapv:UnspecifiedMatching DOID:0060885 renal hypomagnesemia 2 oboInOwl:hasDbXref ICD10CM:E83.4 semapv:UnspecifiedMatching -DOID:0060885 renal hypomagnesemia 2 oboInOwl:hasDbXref OMIM:154020 semapv:UnspecifiedMatching DOID:0060885 renal hypomagnesemia 2 oboInOwl:hasDbXref ORDO:34528 semapv:UnspecifiedMatching -DOID:0060885 renal hypomagnesemia 2 skos:exactMatch OMIM:154020 semapv:UnspecifiedMatching DOID:0060886 osteopathia striata with cranial sclerosis oboInOwl:hasDbXref MESH:C536053 semapv:UnspecifiedMatching -DOID:0060886 osteopathia striata with cranial sclerosis oboInOwl:hasDbXref OMIM:300373 semapv:UnspecifiedMatching DOID:0060886 osteopathia striata with cranial sclerosis oboInOwl:hasDbXref ORDO:2780 semapv:UnspecifiedMatching DOID:0060886 osteopathia striata with cranial sclerosis oboInOwl:hasDbXref UMLS:C0432268 semapv:UnspecifiedMatching -DOID:0060886 osteopathia striata with cranial sclerosis skos:exactMatch OMIM:300373 semapv:UnspecifiedMatching DOID:0060887 ossification of the posterior longitudinal ligament of spine oboInOwl:hasDbXref GARD:9699 semapv:UnspecifiedMatching -DOID:0060887 ossification of the posterior longitudinal ligament of spine oboInOwl:hasDbXref OMIM:602475 semapv:UnspecifiedMatching -DOID:0060887 ossification of the posterior longitudinal ligament of spine skos:exactMatch OMIM:602475 semapv:UnspecifiedMatching DOID:0060888 transient myeloproliferative syndrome oboInOwl:hasDbXref GARD:12765 semapv:UnspecifiedMatching DOID:0060888 transient myeloproliferative syndrome oboInOwl:hasDbXref ICD10CM:D47.7 semapv:UnspecifiedMatching -DOID:0060888 transient myeloproliferative syndrome oboInOwl:hasDbXref OMIM:159595 semapv:UnspecifiedMatching DOID:0060888 transient myeloproliferative syndrome oboInOwl:hasDbXref ORDO:420611 semapv:UnspecifiedMatching -DOID:0060888 transient myeloproliferative syndrome skos:exactMatch OMIM:159595 semapv:UnspecifiedMatching DOID:0060889 prune belly syndrome oboInOwl:hasDbXref GARD:7479 semapv:UnspecifiedMatching DOID:0060889 prune belly syndrome oboInOwl:hasDbXref ICD10CM:Q79.4 semapv:UnspecifiedMatching DOID:0060889 prune belly syndrome oboInOwl:hasDbXref MESH:D011535 semapv:UnspecifiedMatching -DOID:0060889 prune belly syndrome oboInOwl:hasDbXref OMIM:100100 semapv:UnspecifiedMatching DOID:0060889 prune belly syndrome oboInOwl:hasDbXref ORDO:2970 semapv:UnspecifiedMatching -DOID:0060889 prune belly syndrome skos:exactMatch OMIM:100100 semapv:UnspecifiedMatching DOID:0060890 ectopic Cushing syndrome oboInOwl:hasDbXref ICD10CM:E24.3 semapv:UnspecifiedMatching DOID:0060890 ectopic Cushing syndrome oboInOwl:hasDbXref ORDO:99889 semapv:UnspecifiedMatching DOID:0060891 Parkinson's disease 19A oboInOwl:hasDbXref ICD10CM:G20 semapv:UnspecifiedMatching -DOID:0060891 Parkinson's disease 19A oboInOwl:hasDbXref OMIM:615528 semapv:UnspecifiedMatching DOID:0060891 Parkinson's disease 19A oboInOwl:hasDbXref ORDO:391411 semapv:UnspecifiedMatching -DOID:0060891 Parkinson's disease 19A skos:exactMatch OMIM:615528 semapv:UnspecifiedMatching -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: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 DOID:0060896 Parkinson's disease 23 oboInOwl:hasDbXref ICD10CM:G20 semapv:UnspecifiedMatching -DOID:0060896 Parkinson's disease 23 oboInOwl:hasDbXref OMIM:616840 semapv:UnspecifiedMatching -DOID:0060896 Parkinson's disease 23 skos:exactMatch OMIM:616840 semapv:UnspecifiedMatching -DOID:0060897 Parkinson's disease 17 oboInOwl:hasDbXref OMIM:614203 semapv:UnspecifiedMatching -DOID:0060897 Parkinson's disease 17 skos:exactMatch OMIM:614203 semapv:UnspecifiedMatching -DOID:0060898 Parkinson's disease 20 oboInOwl:hasDbXref OMIM:615530 semapv:UnspecifiedMatching -DOID:0060898 Parkinson's disease 20 skos:exactMatch OMIM:615530 semapv:UnspecifiedMatching DOID:0060900 Parkinson's disease 14 oboInOwl:hasDbXref MESH:C567844 semapv:UnspecifiedMatching -DOID:0060900 Parkinson's disease 14 oboInOwl:hasDbXref OMIM:612953 semapv:UnspecifiedMatching -DOID:0060900 Parkinson's disease 14 skos:exactMatch OMIM:612953 semapv:UnspecifiedMatching DOID:0060901 lymphoplasmacytic lymphoma oboInOwl:hasDbXref GARD:7872 semapv:UnspecifiedMatching DOID:0060901 lymphoplasmacytic lymphoma oboInOwl:hasDbXref ICD10CM:C88.0 semapv:UnspecifiedMatching DOID:0060901 lymphoplasmacytic lymphoma oboInOwl:hasDbXref ICD9CM:273.3 semapv:UnspecifiedMatching @@ -4645,422 +2816,97 @@ DOID:0060901 lymphoplasmacytic lymphoma oboInOwl:hasDbXref ICDO:9671/3 semapv:Un DOID:0060901 lymphoplasmacytic lymphoma oboInOwl:hasDbXref MESH:D008258 semapv:UnspecifiedMatching DOID:0060901 lymphoplasmacytic lymphoma oboInOwl:hasDbXref NCI:C115212 semapv:UnspecifiedMatching DOID:0060901 lymphoplasmacytic lymphoma oboInOwl:hasDbXref NCI:C80307 semapv:UnspecifiedMatching -DOID:0060901 lymphoplasmacytic lymphoma oboInOwl:hasDbXref OMIM:153600 semapv:UnspecifiedMatching -DOID:0060901 lymphoplasmacytic lymphoma oboInOwl:hasDbXref OMIM:610430 semapv:UnspecifiedMatching DOID:0060901 lymphoplasmacytic lymphoma oboInOwl:hasDbXref ORDO:33226 semapv:UnspecifiedMatching DOID:0060901 lymphoplasmacytic lymphoma oboInOwl:hasDbXref UMLS:C0024419 semapv:UnspecifiedMatching DOID:0060901 lymphoplasmacytic lymphoma oboInOwl:hasDbXref UMLS:C2936755 semapv:UnspecifiedMatching DOID:0060901 lymphoplasmacytic lymphoma skos:exactMatch MESH:D008258 semapv:UnspecifiedMatching DOID:0060902 Norman-Roberts syndrome oboInOwl:hasDbXref MESH:C537848 semapv:UnspecifiedMatching -DOID:0060902 Norman-Roberts syndrome oboInOwl:hasDbXref OMIM:257320 semapv:UnspecifiedMatching DOID:0060902 Norman-Roberts syndrome oboInOwl:hasDbXref ORDO:89844 semapv:UnspecifiedMatching DOID:0060902 Norman-Roberts syndrome oboInOwl:hasDbXref UMLS:C0796089 semapv:UnspecifiedMatching -DOID:0060902 Norman-Roberts syndrome skos:exactMatch OMIM:257320 semapv:UnspecifiedMatching DOID:0060903 thrombosis oboInOwl:hasDbXref MESH:D013927 semapv:UnspecifiedMatching DOID:0060911 karyomegalic interstitial nephritis oboInOwl:hasDbXref GARD:11003 semapv:UnspecifiedMatching DOID:0060911 karyomegalic interstitial nephritis oboInOwl:hasDbXref ICD10CM:N11.8 semapv:UnspecifiedMatching -DOID:0060911 karyomegalic interstitial nephritis oboInOwl:hasDbXref OMIM:614817 semapv:UnspecifiedMatching DOID:0060911 karyomegalic interstitial nephritis oboInOwl:hasDbXref ORDO:401996 semapv:UnspecifiedMatching -DOID:0060911 karyomegalic interstitial nephritis skos:exactMatch OMIM:614817 semapv:UnspecifiedMatching -DOID:0060912 craniosynostosis 7 oboInOwl:hasDbXref OMIM:617439 semapv:UnspecifiedMatching -DOID:0060912 craniosynostosis 7 skos:exactMatch OMIM:617439 semapv:UnspecifiedMatching -DOID:0060913 proteosome-associated autoinflammatory syndrome oboInOwl:hasDbXref OMIMPS:256040 semapv:UnspecifiedMatching DOID:0060913 proteosome-associated autoinflammatory syndrome oboInOwl:hasDbXref ORDO:324977 semapv:UnspecifiedMatching -DOID:0060913 proteosome-associated autoinflammatory syndrome skos:exactMatch OMIMPS:256040 semapv:UnspecifiedMatching -DOID:0060914 proteosome-associated autoinflammatory syndrome 2 oboInOwl:hasDbXref OMIM:618048 semapv:UnspecifiedMatching -DOID:0060914 proteosome-associated autoinflammatory syndrome 2 skos:exactMatch OMIM:618048 semapv:UnspecifiedMatching -DOID:0060915 proteosome-associated autoinflammatory syndrome 4 oboInOwl:hasDbXref OMIM:619183 semapv:UnspecifiedMatching -DOID:0060915 proteosome-associated autoinflammatory syndrome 4 skos:exactMatch OMIM:619183 semapv:UnspecifiedMatching -DOID:0060916 proteasome-associated autoinflammatory syndrome 3 oboInOwl:hasDbXref OMIM:617591 semapv:UnspecifiedMatching -DOID:0060916 proteasome-associated autoinflammatory syndrome 3 skos:exactMatch OMIM:617591 semapv:UnspecifiedMatching -DOID:0060917 facioscapulohumeral muscular dystrophy 3 oboInOwl:hasDbXref OMIM:619477 semapv:UnspecifiedMatching -DOID:0060917 facioscapulohumeral muscular dystrophy 3 skos:exactMatch OMIM:619477 semapv:UnspecifiedMatching -DOID:0060918 facioscapulohumeral muscular dystrophy 4 oboInOwl:hasDbXref OMIM:619478 semapv:UnspecifiedMatching -DOID:0060918 facioscapulohumeral muscular dystrophy 4 skos:exactMatch OMIM:619478 semapv:UnspecifiedMatching -DOID:0060919 proteosome-associated autoinflammatory syndrome 5 oboInOwl:hasDbXref OMIM:619175 semapv:UnspecifiedMatching -DOID:0060919 proteosome-associated autoinflammatory syndrome 5 skos:exactMatch OMIM:619175 semapv:UnspecifiedMatching -DOID:0060920 otosclerosis 1 oboInOwl:hasDbXref OMIM:166800 semapv:UnspecifiedMatching -DOID:0060920 otosclerosis 1 skos:exactMatch OMIM:166800 semapv:UnspecifiedMatching -DOID:0060921 otosclerosis 2 oboInOwl:hasDbXref OMIM:605727 semapv:UnspecifiedMatching -DOID:0060921 otosclerosis 2 skos:exactMatch OMIM:605727 semapv:UnspecifiedMatching -DOID:0060922 otosclerosis 3 oboInOwl:hasDbXref OMIM:608244 semapv:UnspecifiedMatching -DOID:0060922 otosclerosis 3 skos:exactMatch OMIM:608244 semapv:UnspecifiedMatching -DOID:0060923 otosclerosis 4 oboInOwl:hasDbXref OMIM:611571 semapv:UnspecifiedMatching -DOID:0060923 otosclerosis 4 skos:exactMatch OMIM:611571 semapv:UnspecifiedMatching -DOID:0060924 otosclerosis 5 oboInOwl:hasDbXref OMIM:608787 semapv:UnspecifiedMatching -DOID:0060924 otosclerosis 5 skos:exactMatch OMIM:608787 semapv:UnspecifiedMatching -DOID:0060925 otosclerosis 7 oboInOwl:hasDbXref OMIM:611572 semapv:UnspecifiedMatching -DOID:0060925 otosclerosis 7 skos:exactMatch OMIM:611572 semapv:UnspecifiedMatching -DOID:0060926 otosclerosis 8 oboInOwl:hasDbXref OMIM:612096 semapv:UnspecifiedMatching -DOID:0060926 otosclerosis 8 skos:exactMatch OMIM:612096 semapv:UnspecifiedMatching -DOID:0060927 otosclerosis 10 oboInOwl:hasDbXref OMIM:615589 semapv:UnspecifiedMatching -DOID:0060927 otosclerosis 10 skos:exactMatch OMIM:615589 semapv:UnspecifiedMatching -DOID:0060928 otosclerosis 11 oboInOwl:hasDbXref OMIM:620576 semapv:UnspecifiedMatching -DOID:0060928 otosclerosis 11 skos:exactMatch OMIM:620576 semapv:UnspecifiedMatching -DOID:0060929 non-syndromic X-linked intellectual developmental disorder 111 oboInOwl:hasDbXref OMIM:301107 semapv:UnspecifiedMatching -DOID:0060929 non-syndromic X-linked intellectual developmental disorder 111 skos:exactMatch OMIM:301107 semapv:UnspecifiedMatching DOID:0060930 developmental dysplasia of the hip oboInOwl:hasDbXref MESH:D000082602 semapv:UnspecifiedMatching -DOID:0060930 developmental dysplasia of the hip oboInOwl:hasDbXref OMIMPS:142700 semapv:UnspecifiedMatching -DOID:0060930 developmental dysplasia of the hip skos:exactMatch OMIMPS:142700 semapv:UnspecifiedMatching -DOID:0060931 developmental dysplasia of the hip 1 oboInOwl:hasDbXref OMIM:142700 semapv:UnspecifiedMatching -DOID:0060931 developmental dysplasia of the hip 1 skos:exactMatch OMIM:142700 semapv:UnspecifiedMatching -DOID:0060932 developmental dysplasia of the hip 2 oboInOwl:hasDbXref OMIM:615612 semapv:UnspecifiedMatching -DOID:0060932 developmental dysplasia of the hip 2 skos:exactMatch OMIM:615612 semapv:UnspecifiedMatching -DOID:0060933 developmental delay, dysmorphic facies, and brain anomalies oboInOwl:hasDbXref OMIM:620535 semapv:UnspecifiedMatching -DOID:0060933 developmental delay, dysmorphic facies, and brain anomalies skos:exactMatch OMIM:620535 semapv:UnspecifiedMatching -DOID:0060934 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy oboInOwl:hasDbXref OMIM:617862 semapv:UnspecifiedMatching -DOID:0060934 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy skos:exactMatch OMIM:617862 semapv:UnspecifiedMatching -DOID:0060935 infantile hypotonia with psychomotor retardation and characteristic facies-3 oboInOwl:hasDbXref OMIM:616900 semapv:UnspecifiedMatching 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 ICD10CM:G24.8 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 -DOID:0060938 dystonia 31 skos:exactMatch OMIM:619565 semapv:UnspecifiedMatching -DOID:0060939 dystonia 32 oboInOwl:hasDbXref OMIM:619637 semapv:UnspecifiedMatching -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: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:0060948 Ullrich congenital muscular dystrophy 2 oboInOwl:hasDbXref GARD:4769 semapv:UnspecifiedMatching +DOID:0060948 Ullrich congenital muscular dystrophy 2 oboInOwl:hasDbXref ORDO:75840 semapv:UnspecifiedMatching +DOID:0060949 3-hydroxyisobutryl-CoA hydrolase deficiency oboInOwl:hasDbXref GARD:13202 semapv:UnspecifiedMatching +DOID:0060949 3-hydroxyisobutryl-CoA hydrolase deficiency oboInOwl:hasDbXref ORDO:88639 semapv:UnspecifiedMatching +DOID:0060953 ZTTK syndrome oboInOwl:hasDbXref GARD:13489 semapv:UnspecifiedMatching +DOID:0060953 ZTTK syndrome oboInOwl:hasDbXref ORDO:500150 semapv:UnspecifiedMatching +DOID:0060953 ZTTK syndrome oboInOwl:hasDbXref UMLS:C4310696 semapv:UnspecifiedMatching +DOID:0060958 orofaciodigital syndrome XIV oboInOwl:hasDbXref GARD:13655 semapv:UnspecifiedMatching +DOID:0060958 orofaciodigital syndrome XIV oboInOwl:hasDbXref ORDO:434179 semapv:UnspecifiedMatching +DOID:0060959 orofaciodigital syndrome II oboInOwl:hasDbXref GARD:3701 semapv:UnspecifiedMatching +DOID:0060959 orofaciodigital syndrome II oboInOwl:hasDbXref ORDO:2751 semapv:UnspecifiedMatching +DOID:0060961 orofaciodigital syndrome XVIII oboInOwl:hasDbXref ORDO:508501 semapv:UnspecifiedMatching +DOID:0060963 dystonia, DOPA-responsive oboInOwl:hasDbXref ICD10CM:G24.1 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 -DOID:0060967 dystonia 22, adult-onset oboInOwl:hasDbXref OMIM:620456 semapv:UnspecifiedMatching -DOID:0060967 dystonia 22, adult-onset skos:exactMatch OMIM:620456 semapv:UnspecifiedMatching -DOID:0070000 3-methylglutaconic aciduria type 8 oboInOwl:hasDbXref OMIM:617248 semapv:UnspecifiedMatching -DOID:0070000 3-methylglutaconic aciduria type 8 skos:exactMatch OMIM:617248 semapv:UnspecifiedMatching -DOID:0070002 3-methylglutaconic aciduria type 9 oboInOwl:hasDbXref OMIM:617698 semapv:UnspecifiedMatching -DOID:0070002 3-methylglutaconic aciduria type 9 skos:exactMatch OMIM:617698 semapv:UnspecifiedMatching -DOID:0070005 Seckel syndrome 9 oboInOwl:hasDbXref OMIM:616777 semapv:UnspecifiedMatching -DOID:0070005 Seckel syndrome 9 skos:exactMatch OMIM:616777 semapv:UnspecifiedMatching -DOID:0070006 Seckel syndrome 6 oboInOwl:hasDbXref OMIM:614728 semapv:UnspecifiedMatching -DOID:0070006 Seckel syndrome 6 skos:exactMatch OMIM:614728 semapv:UnspecifiedMatching +DOID:0060969 galactosemia 4 oboInOwl:hasDbXref ORDO:570422 semapv:UnspecifiedMatching DOID:0070007 Seckel syndrome 1 oboInOwl:hasDbXref MESH:C537533 semapv:UnspecifiedMatching -DOID:0070007 Seckel syndrome 1 oboInOwl:hasDbXref OMIM:210600 semapv:UnspecifiedMatching -DOID:0070007 Seckel syndrome 1 skos:exactMatch OMIM:210600 semapv:UnspecifiedMatching -DOID:0070008 Seckel syndrome 10 oboInOwl:hasDbXref OMIM:617253 semapv:UnspecifiedMatching -DOID:0070008 Seckel syndrome 10 skos:exactMatch OMIM:617253 semapv:UnspecifiedMatching -DOID:0070009 Seckel syndrome 8 oboInOwl:hasDbXref OMIM:615807 semapv:UnspecifiedMatching -DOID:0070009 Seckel syndrome 8 skos:exactMatch OMIM:615807 semapv:UnspecifiedMatching -DOID:0070010 Seckel syndrome 4 oboInOwl:hasDbXref OMIM:613676 semapv:UnspecifiedMatching -DOID:0070010 Seckel syndrome 4 skos:exactMatch OMIM:613676 semapv:UnspecifiedMatching -DOID:0070011 Seckel syndrome 7 oboInOwl:hasDbXref OMIM:614851 semapv:UnspecifiedMatching -DOID:0070011 Seckel syndrome 7 skos:exactMatch OMIM:614851 semapv:UnspecifiedMatching -DOID:0070012 Seckel syndrome 5 oboInOwl:hasDbXref OMIM:613823 semapv:UnspecifiedMatching -DOID:0070012 Seckel syndrome 5 skos:exactMatch OMIM:613823 semapv:UnspecifiedMatching DOID:0070013 Seckel syndrome 2 oboInOwl:hasDbXref MESH:C537534 semapv:UnspecifiedMatching -DOID:0070013 Seckel syndrome 2 oboInOwl:hasDbXref OMIM:606744 semapv:UnspecifiedMatching -DOID:0070013 Seckel syndrome 2 skos:exactMatch OMIM:606744 semapv:UnspecifiedMatching -DOID:0070014 autosomal dominant dyskeratosis congenita 1 oboInOwl:hasDbXref OMIM:127550 semapv:UnspecifiedMatching -DOID:0070014 autosomal dominant dyskeratosis congenita 1 skos:exactMatch OMIM:127550 semapv:UnspecifiedMatching -DOID:0070015 autosomal recessive dyskeratosis congenita 1 oboInOwl:hasDbXref OMIM:224230 semapv:UnspecifiedMatching -DOID:0070015 autosomal recessive dyskeratosis congenita 1 skos:exactMatch OMIM:224230 semapv:UnspecifiedMatching -DOID:0070016 autosomal dominant dyskeratosis congenita 2 oboInOwl:hasDbXref OMIM:613989 semapv:UnspecifiedMatching -DOID:0070016 autosomal dominant dyskeratosis congenita 2 skos:exactMatch OMIM:613989 semapv:UnspecifiedMatching -DOID:0070017 autosomal recessive dyskeratosis congenita 2 oboInOwl:hasDbXref OMIM:613987 semapv:UnspecifiedMatching -DOID:0070017 autosomal recessive dyskeratosis congenita 2 skos:exactMatch OMIM:613987 semapv:UnspecifiedMatching -DOID:0070018 autosomal dominant dyskeratosis congenita 3 oboInOwl:hasDbXref OMIM:613990 semapv:UnspecifiedMatching -DOID:0070018 autosomal dominant dyskeratosis congenita 3 skos:exactMatch OMIM:613990 semapv:UnspecifiedMatching -DOID:0070019 autosomal recessive dyskeratosis congenita 3 oboInOwl:hasDbXref OMIM:613988 semapv:UnspecifiedMatching -DOID:0070019 autosomal recessive dyskeratosis congenita 3 skos:exactMatch OMIM:613988 semapv:UnspecifiedMatching -DOID:0070022 autosomal recessive dyskeratosis congenita 5 oboInOwl:hasDbXref OMIM:615190 semapv:UnspecifiedMatching -DOID:0070022 autosomal recessive dyskeratosis congenita 5 skos:exactMatch OMIM:615190 semapv:UnspecifiedMatching -DOID:0070023 autosomal dominant dyskeratosis congenita 6 oboInOwl:hasDbXref OMIM:616553 semapv:UnspecifiedMatching -DOID:0070023 autosomal dominant dyskeratosis congenita 6 skos:exactMatch OMIM:616553 semapv:UnspecifiedMatching -DOID:0070024 autosomal recessive dyskeratosis congenita 6 oboInOwl:hasDbXref OMIM:616353 semapv:UnspecifiedMatching -DOID:0070024 autosomal recessive dyskeratosis congenita 6 skos:exactMatch OMIM:616353 semapv:UnspecifiedMatching -DOID:0070025 X-linked dyskeratosis congenita oboInOwl:hasDbXref OMIM:305000 semapv:UnspecifiedMatching -DOID:0070025 X-linked dyskeratosis congenita skos:exactMatch OMIM:305000 semapv:UnspecifiedMatching DOID:0070026 Revesz syndrome oboInOwl:hasDbXref GARD:4695 semapv:UnspecifiedMatching -DOID:0070026 Revesz syndrome oboInOwl:hasDbXref OMIM:268130 semapv:UnspecifiedMatching -DOID:0070026 Revesz syndrome skos:exactMatch OMIM:268130 semapv:UnspecifiedMatching -DOID:0070027 CST3-related cerebral amyloid angiopathy oboInOwl:hasDbXref OMIM:105150 semapv:UnspecifiedMatching -DOID:0070027 CST3-related cerebral amyloid angiopathy skos:exactMatch OMIM:105150 semapv:UnspecifiedMatching -DOID:0070028 APP-related cerebral amyloid angiopathy oboInOwl:hasDbXref OMIM:605714 semapv:UnspecifiedMatching -DOID:0070028 APP-related cerebral amyloid angiopathy skos:exactMatch OMIM:605714 semapv:UnspecifiedMatching DOID:0070029 ITM2B-related cerebral amyloid angiopathy 1 oboInOwl:hasDbXref GARD:8344 semapv:UnspecifiedMatching -DOID:0070029 ITM2B-related cerebral amyloid angiopathy 1 oboInOwl:hasDbXref OMIM:176500 semapv:UnspecifiedMatching -DOID:0070029 ITM2B-related cerebral amyloid angiopathy 1 skos:exactMatch OMIM:176500 semapv:UnspecifiedMatching -DOID:0070030 ITM2B-related cerebral amyloid angiopathy 2 oboInOwl:hasDbXref OMIM:117300 semapv:UnspecifiedMatching -DOID:0070030 ITM2B-related cerebral amyloid angiopathy 2 skos:exactMatch OMIM:117300 semapv:UnspecifiedMatching -DOID:0070031 autosomal dominant intellectual developmental disorder 1 oboInOwl:hasDbXref OMIM:156200 semapv:UnspecifiedMatching -DOID:0070031 autosomal dominant intellectual developmental disorder 1 skos:exactMatch OMIM:156200 semapv:UnspecifiedMatching -DOID:0070032 autosomal dominant intellectual developmental disorder 2 oboInOwl:hasDbXref OMIM:614113 semapv:UnspecifiedMatching -DOID:0070032 autosomal dominant intellectual developmental disorder 2 skos:exactMatch OMIM:614113 semapv:UnspecifiedMatching -DOID:0070033 autosomal dominant intellectual developmental disorder 3 oboInOwl:hasDbXref OMIM:612580 semapv:UnspecifiedMatching -DOID:0070033 autosomal dominant intellectual developmental disorder 3 skos:exactMatch OMIM:612580 semapv:UnspecifiedMatching -DOID:0070034 autosomal dominant intellectual developmental disorder 4 oboInOwl:hasDbXref OMIM:612581 semapv:UnspecifiedMatching -DOID:0070034 autosomal dominant intellectual developmental disorder 4 skos:exactMatch OMIM:612581 semapv:UnspecifiedMatching -DOID:0070035 autosomal dominant intellectual developmental disorder 5 oboInOwl:hasDbXref OMIM:612621 semapv:UnspecifiedMatching -DOID:0070035 autosomal dominant intellectual developmental disorder 5 skos:exactMatch OMIM:612621 semapv:UnspecifiedMatching -DOID:0070036 autosomal dominant intellectual developmental disorder 6 oboInOwl:hasDbXref OMIM:613970 semapv:UnspecifiedMatching -DOID:0070036 autosomal dominant intellectual developmental disorder 6 skos:exactMatch OMIM:613970 semapv:UnspecifiedMatching -DOID:0070037 autosomal dominant intellectual developmental disorder 7 oboInOwl:hasDbXref OMIM:614104 semapv:UnspecifiedMatching -DOID:0070037 autosomal dominant intellectual developmental disorder 7 skos:exactMatch OMIM:614104 semapv:UnspecifiedMatching -DOID:0070038 autosomal dominant intellectual developmental disorder 8 oboInOwl:hasDbXref OMIM:614254 semapv:UnspecifiedMatching -DOID:0070038 autosomal dominant intellectual developmental disorder 8 skos:exactMatch OMIM:614254 semapv:UnspecifiedMatching DOID:0070039 NESCAV syndrome oboInOwl:hasDbXref NCI:C133742 semapv:UnspecifiedMatching -DOID:0070039 NESCAV syndrome oboInOwl:hasDbXref OMIM:614255 semapv:UnspecifiedMatching DOID:0070039 NESCAV syndrome oboInOwl:hasDbXref UMLS:C3280283 semapv:UnspecifiedMatching -DOID:0070039 NESCAV syndrome skos:exactMatch OMIM:614255 semapv:UnspecifiedMatching -DOID:0070040 autosomal dominant intellectual developmental disorder 10 oboInOwl:hasDbXref OMIM:614256 semapv:UnspecifiedMatching -DOID:0070040 autosomal dominant intellectual developmental disorder 10 skos:exactMatch OMIM:614256 semapv:UnspecifiedMatching -DOID:0070041 autosomal dominant intellectual developmental disorder 11 oboInOwl:hasDbXref OMIM:614257 semapv:UnspecifiedMatching -DOID:0070041 autosomal dominant intellectual developmental disorder 11 skos:exactMatch OMIM:614257 semapv:UnspecifiedMatching -DOID:0070042 Coffin-Siris syndrome 1 oboInOwl:hasDbXref OMIM:135900 semapv:UnspecifiedMatching -DOID:0070042 Coffin-Siris syndrome 1 skos:exactMatch OMIM:135900 semapv:UnspecifiedMatching -DOID:0070043 autosomal dominant intellectual developmental disorder 13 oboInOwl:hasDbXref OMIM:614563 semapv:UnspecifiedMatching -DOID:0070043 autosomal dominant intellectual developmental disorder 13 skos:exactMatch OMIM:614563 semapv:UnspecifiedMatching -DOID:0070044 Coffin-Siris syndrome 2 oboInOwl:hasDbXref OMIM:614607 semapv:UnspecifiedMatching -DOID:0070044 Coffin-Siris syndrome 2 skos:exactMatch OMIM:614607 semapv:UnspecifiedMatching -DOID:0070045 Coffin-Siris syndrome 3 oboInOwl:hasDbXref OMIM:614608 semapv:UnspecifiedMatching -DOID:0070045 Coffin-Siris syndrome 3 skos:exactMatch OMIM:614608 semapv:UnspecifiedMatching -DOID:0070046 Coffin-Siris syndrome 4 oboInOwl:hasDbXref OMIM:614609 semapv:UnspecifiedMatching -DOID:0070046 Coffin-Siris syndrome 4 skos:exactMatch OMIM:614609 semapv:UnspecifiedMatching -DOID:0070047 Schuurs-Hoeijmakers Syndrome oboInOwl:hasDbXref OMIM:615009 semapv:UnspecifiedMatching -DOID:0070047 Schuurs-Hoeijmakers Syndrome skos:exactMatch OMIM:615009 semapv:UnspecifiedMatching -DOID:0070048 GAND syndrome oboInOwl:hasDbXref OMIM:615074 semapv:UnspecifiedMatching -DOID:0070048 GAND syndrome skos:exactMatch OMIM:615074 semapv:UnspecifiedMatching -DOID:0070049 autosomal dominant intellectual developmental disorder 19 oboInOwl:hasDbXref OMIM:615075 semapv:UnspecifiedMatching -DOID:0070049 autosomal dominant intellectual developmental disorder 19 skos:exactMatch OMIM:615075 semapv:UnspecifiedMatching -DOID:0070050 neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language oboInOwl:hasDbXref OMIM:613443 semapv:UnspecifiedMatching -DOID:0070050 neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language skos:exactMatch OMIM:613443 semapv:UnspecifiedMatching -DOID:0070051 autosomal dominant intellectual developmental disorder 21 oboInOwl:hasDbXref OMIM:615502 semapv:UnspecifiedMatching -DOID:0070051 autosomal dominant intellectual developmental disorder 21 skos:exactMatch OMIM:615502 semapv:UnspecifiedMatching -DOID:0070052 autosomal dominant intellectual developmental disorder 22 oboInOwl:hasDbXref OMIM:612337 semapv:UnspecifiedMatching -DOID:0070052 autosomal dominant intellectual developmental disorder 22 skos:exactMatch OMIM:612337 semapv:UnspecifiedMatching -DOID:0070053 autosomal dominant intellectual developmental disorder 23 oboInOwl:hasDbXref OMIM:615761 semapv:UnspecifiedMatching -DOID:0070053 autosomal dominant intellectual developmental disorder 23 skos:exactMatch OMIM:615761 semapv:UnspecifiedMatching -DOID:0070054 Vulto-van Silfout-de Vries syndrome oboInOwl:hasDbXref OMIM:615828 semapv:UnspecifiedMatching -DOID:0070054 Vulto-van Silfout-de Vries syndrome skos:exactMatch OMIM:615828 semapv:UnspecifiedMatching DOID:0070055 Xia-Gibbs Syndrome oboInOwl:hasDbXref GARD:13409 semapv:UnspecifiedMatching -DOID:0070055 Xia-Gibbs Syndrome oboInOwl:hasDbXref OMIM:615829 semapv:UnspecifiedMatching -DOID:0070055 Xia-Gibbs Syndrome skos:exactMatch OMIM:615829 semapv:UnspecifiedMatching -DOID:0070056 autosomal dominant intellectual developmental disorder 26 oboInOwl:hasDbXref OMIM:615834 semapv:UnspecifiedMatching -DOID:0070056 autosomal dominant intellectual developmental disorder 26 skos:exactMatch OMIM:615834 semapv:UnspecifiedMatching -DOID:0070057 Coffin-Siris syndrome 9 oboInOwl:hasDbXref OMIM:615866 semapv:UnspecifiedMatching -DOID:0070057 Coffin-Siris syndrome 9 skos:exactMatch OMIM:615866 semapv:UnspecifiedMatching -DOID:0070058 Helsmoortel-Van Der Aa Syndrome oboInOwl:hasDbXref OMIM:615873 semapv:UnspecifiedMatching -DOID:0070058 Helsmoortel-Van Der Aa Syndrome skos:exactMatch OMIM:615873 semapv:UnspecifiedMatching -DOID:0070059 autosomal dominant intellectual developmental disorder 29 oboInOwl:hasDbXref OMIM:616078 semapv:UnspecifiedMatching -DOID:0070059 autosomal dominant intellectual developmental disorder 29 skos:exactMatch OMIM:616078 semapv:UnspecifiedMatching -DOID:0070060 autosomal dominant intellectual developmental disorder 30 oboInOwl:hasDbXref OMIM:616083 semapv:UnspecifiedMatching -DOID:0070060 autosomal dominant intellectual developmental disorder 30 skos:exactMatch OMIM:616083 semapv:UnspecifiedMatching -DOID:0070061 autosomal dominant intellectual developmental disorder 31 oboInOwl:hasDbXref OMIM:616158 semapv:UnspecifiedMatching -DOID:0070061 autosomal dominant intellectual developmental disorder 31 skos:exactMatch OMIM:616158 semapv:UnspecifiedMatching -DOID:0070062 Arboleda-Tham syndrome oboInOwl:hasDbXref OMIM:616268 semapv:UnspecifiedMatching DOID:0070062 Arboleda-Tham syndrome oboInOwl:hasDbXref ORDO:457193 semapv:UnspecifiedMatching -DOID:0070062 Arboleda-Tham syndrome skos:exactMatch OMIM:616268 semapv:UnspecifiedMatching -DOID:0070063 autosomal dominant intellectual developmental disorder 33 oboInOwl:hasDbXref OMIM:616311 semapv:UnspecifiedMatching -DOID:0070063 autosomal dominant intellectual developmental disorder 33 skos:exactMatch OMIM:616311 semapv:UnspecifiedMatching -DOID:0070064 autosomal dominant intellectual developmental disorder 34 oboInOwl:hasDbXref OMIM:616351 semapv:UnspecifiedMatching -DOID:0070064 autosomal dominant intellectual developmental disorder 34 skos:exactMatch OMIM:616351 semapv:UnspecifiedMatching -DOID:0070065 autosomal dominant intellectual developmental disorder 35 oboInOwl:hasDbXref OMIM:616355 semapv:UnspecifiedMatching -DOID:0070065 autosomal dominant intellectual developmental disorder 35 skos:exactMatch OMIM:616355 semapv:UnspecifiedMatching -DOID:0070066 autosomal dominant intellectual developmental disorder 36 oboInOwl:hasDbXref OMIM:616362 semapv:UnspecifiedMatching -DOID:0070066 autosomal dominant intellectual developmental disorder 36 skos:exactMatch OMIM:616362 semapv:UnspecifiedMatching -DOID:0070067 White-Sutton syndrome oboInOwl:hasDbXref OMIM:616364 semapv:UnspecifiedMatching -DOID:0070067 White-Sutton syndrome skos:exactMatch OMIM:616364 semapv:UnspecifiedMatching -DOID:0070068 autosomal dominant intellectual developmental disorder 38 oboInOwl:hasDbXref OMIM:616393 semapv:UnspecifiedMatching -DOID:0070068 autosomal dominant intellectual developmental disorder 38 skos:exactMatch OMIM:616393 semapv:UnspecifiedMatching -DOID:0070069 autosomal dominant intellectual developmental disorder 39 oboInOwl:hasDbXref OMIM:616521 semapv:UnspecifiedMatching -DOID:0070069 autosomal dominant intellectual developmental disorder 39 skos:exactMatch OMIM:616521 semapv:UnspecifiedMatching -DOID:0070070 autosomal dominant intellectual developmental disorder 40 oboInOwl:hasDbXref OMIM:616579 semapv:UnspecifiedMatching -DOID:0070070 autosomal dominant intellectual developmental disorder 40 skos:exactMatch OMIM:616579 semapv:UnspecifiedMatching -DOID:0070071 autosomal dominant intellectual developmental disorder 41 oboInOwl:hasDbXref OMIM:616944 semapv:UnspecifiedMatching -DOID:0070071 autosomal dominant intellectual developmental disorder 41 skos:exactMatch OMIM:616944 semapv:UnspecifiedMatching -DOID:0070072 autosomal dominant intellectual developmental disorder 42 oboInOwl:hasDbXref OMIM:616973 semapv:UnspecifiedMatching -DOID:0070072 autosomal dominant intellectual developmental disorder 42 skos:exactMatch OMIM:616973 semapv:UnspecifiedMatching -DOID:0070073 autosomal dominant intellectual developmental disorder 43 oboInOwl:hasDbXref OMIM:616977 semapv:UnspecifiedMatching -DOID:0070073 autosomal dominant intellectual developmental disorder 43 skos:exactMatch OMIM:616977 semapv:UnspecifiedMatching -DOID:0070074 autosomal dominant intellectual developmental disorder 44 oboInOwl:hasDbXref OMIM:617061 semapv:UnspecifiedMatching -DOID:0070074 autosomal dominant intellectual developmental disorder 44 skos:exactMatch OMIM:617061 semapv:UnspecifiedMatching -DOID:0070077 schizophrenia 1 oboInOwl:hasDbXref OMIM:181510 semapv:UnspecifiedMatching -DOID:0070077 schizophrenia 1 skos:exactMatch OMIM:181510 semapv:UnspecifiedMatching -DOID:0070078 schizophrenia 2 oboInOwl:hasDbXref OMIM:603342 semapv:UnspecifiedMatching -DOID:0070078 schizophrenia 2 skos:exactMatch OMIM:603342 semapv:UnspecifiedMatching -DOID:0070079 schizophrenia 3 oboInOwl:hasDbXref OMIM:600511 semapv:UnspecifiedMatching -DOID:0070079 schizophrenia 3 skos:exactMatch OMIM:600511 semapv:UnspecifiedMatching -DOID:0070080 schizophrenia 4 oboInOwl:hasDbXref OMIM:600850 semapv:UnspecifiedMatching -DOID:0070080 schizophrenia 4 skos:exactMatch OMIM:600850 semapv:UnspecifiedMatching -DOID:0070081 schizophrenia 5 oboInOwl:hasDbXref OMIM:603175 semapv:UnspecifiedMatching -DOID:0070081 schizophrenia 5 skos:exactMatch OMIM:603175 semapv:UnspecifiedMatching -DOID:0070082 schizophrenia 6 oboInOwl:hasDbXref OMIM:603013 semapv:UnspecifiedMatching -DOID:0070082 schizophrenia 6 skos:exactMatch OMIM:603013 semapv:UnspecifiedMatching -DOID:0070083 schizophrenia 7 oboInOwl:hasDbXref OMIM:603176 semapv:UnspecifiedMatching -DOID:0070083 schizophrenia 7 skos:exactMatch OMIM:603176 semapv:UnspecifiedMatching -DOID:0070084 schizophrenia 8 oboInOwl:hasDbXref OMIM:603206 semapv:UnspecifiedMatching -DOID:0070084 schizophrenia 8 skos:exactMatch OMIM:603206 semapv:UnspecifiedMatching -DOID:0070085 schizophrenia 9 oboInOwl:hasDbXref OMIM:604906 semapv:UnspecifiedMatching -DOID:0070085 schizophrenia 9 skos:exactMatch OMIM:604906 semapv:UnspecifiedMatching -DOID:0070086 schizophrenia 10 oboInOwl:hasDbXref OMIM:605419 semapv:UnspecifiedMatching -DOID:0070086 schizophrenia 10 skos:exactMatch OMIM:605419 semapv:UnspecifiedMatching -DOID:0070087 schizophrenia 11 oboInOwl:hasDbXref OMIM:608078 semapv:UnspecifiedMatching -DOID:0070087 schizophrenia 11 skos:exactMatch OMIM:608078 semapv:UnspecifiedMatching -DOID:0070088 schizophrenia 12 oboInOwl:hasDbXref OMIM:608543 semapv:UnspecifiedMatching -DOID:0070088 schizophrenia 12 skos:exactMatch OMIM:608543 semapv:UnspecifiedMatching -DOID:0070089 schizophrenia 13 oboInOwl:hasDbXref OMIM:613025 semapv:UnspecifiedMatching -DOID:0070089 schizophrenia 13 skos:exactMatch OMIM:613025 semapv:UnspecifiedMatching -DOID:0070090 schizophrenia 14 oboInOwl:hasDbXref OMIM:612361 semapv:UnspecifiedMatching -DOID:0070090 schizophrenia 14 skos:exactMatch OMIM:612361 semapv:UnspecifiedMatching -DOID:0070091 schizophrenia 15 oboInOwl:hasDbXref OMIM:613950 semapv:UnspecifiedMatching -DOID:0070091 schizophrenia 15 skos:exactMatch OMIM:613950 semapv:UnspecifiedMatching -DOID:0070092 schizophrenia 16 oboInOwl:hasDbXref OMIM:613959 semapv:UnspecifiedMatching -DOID:0070092 schizophrenia 16 skos:exactMatch OMIM:613959 semapv:UnspecifiedMatching -DOID:0070093 schizophrenia 18 oboInOwl:hasDbXref OMIM:615232 semapv:UnspecifiedMatching -DOID:0070093 schizophrenia 18 skos:exactMatch OMIM:615232 semapv:UnspecifiedMatching -DOID:0070094 oculocutaneous albinism type IA oboInOwl:hasDbXref OMIM:203100 semapv:UnspecifiedMatching -DOID:0070094 oculocutaneous albinism type IA skos:exactMatch OMIM:203100 semapv:UnspecifiedMatching DOID:0070095 oculocutaneous albinism type IB oboInOwl:hasDbXref MESH:C537729 semapv:UnspecifiedMatching -DOID:0070095 oculocutaneous albinism type IB oboInOwl:hasDbXref OMIM:606952 semapv:UnspecifiedMatching -DOID:0070095 oculocutaneous albinism type IB skos:exactMatch OMIM:606952 semapv:UnspecifiedMatching DOID:0070096 oculocutaneous albinism type II oboInOwl:hasDbXref GARD:4038 semapv:UnspecifiedMatching DOID:0070096 oculocutaneous albinism type II oboInOwl:hasDbXref MESH:C537730 semapv:UnspecifiedMatching -DOID:0070096 oculocutaneous albinism type II oboInOwl:hasDbXref OMIM:203200 semapv:UnspecifiedMatching -DOID:0070096 oculocutaneous albinism type II skos:exactMatch OMIM:203200 semapv:UnspecifiedMatching DOID:0070097 oculocutaneous albinism type III oboInOwl:hasDbXref GARD:4039 semapv:UnspecifiedMatching -DOID:0070097 oculocutaneous albinism type III oboInOwl:hasDbXref OMIM:203290 semapv:UnspecifiedMatching -DOID:0070097 oculocutaneous albinism type III skos:exactMatch OMIM:203290 semapv:UnspecifiedMatching -DOID:0070098 oculocutaneous albinism type IV oboInOwl:hasDbXref OMIM:606574 semapv:UnspecifiedMatching -DOID:0070098 oculocutaneous albinism type IV skos:exactMatch OMIM:606574 semapv:UnspecifiedMatching -DOID:0070099 oculocutaneous albinism type V oboInOwl:hasDbXref OMIM:615312 semapv:UnspecifiedMatching -DOID:0070099 oculocutaneous albinism type V skos:exactMatch OMIM:615312 semapv:UnspecifiedMatching -DOID:0070100 oculocutaneous albinism type VII oboInOwl:hasDbXref OMIM:615179 semapv:UnspecifiedMatching -DOID:0070100 oculocutaneous albinism type VII skos:exactMatch OMIM:615179 semapv:UnspecifiedMatching DOID:0070111 Niemann-Pick disease type A oboInOwl:hasDbXref GARD:7206 semapv:UnspecifiedMatching DOID:0070111 Niemann-Pick disease type A oboInOwl:hasDbXref ICD10CM:E75.2 semapv:UnspecifiedMatching -DOID:0070111 Niemann-Pick disease type A oboInOwl:hasDbXref OMIM:257200 semapv:UnspecifiedMatching -DOID:0070111 Niemann-Pick disease type A skos:exactMatch OMIM:257200 semapv:UnspecifiedMatching DOID:0070112 Niemann-Pick disease type B oboInOwl:hasDbXref GARD:10729 semapv:UnspecifiedMatching DOID:0070112 Niemann-Pick disease type B oboInOwl:hasDbXref ICD10CM:E75.2 semapv:UnspecifiedMatching -DOID:0070112 Niemann-Pick disease type B oboInOwl:hasDbXref OMIM:607616 semapv:UnspecifiedMatching -DOID:0070112 Niemann-Pick disease type B skos:exactMatch OMIM:607616 semapv:UnspecifiedMatching DOID:0070113 Niemann-Pick disease type C1 oboInOwl:hasDbXref GARD:7207 semapv:UnspecifiedMatching DOID:0070113 Niemann-Pick disease type C1 oboInOwl:hasDbXref ICD10CM:E75.2 semapv:UnspecifiedMatching -DOID:0070113 Niemann-Pick disease type C1 oboInOwl:hasDbXref OMIM:257220 semapv:UnspecifiedMatching -DOID:0070113 Niemann-Pick disease type C1 skos:exactMatch OMIM:257220 semapv:UnspecifiedMatching DOID:0070114 Niemann-Pick disease type C2 oboInOwl:hasDbXref GARD:3992 semapv:UnspecifiedMatching DOID:0070114 Niemann-Pick disease type C2 oboInOwl:hasDbXref ICD10CM:E75.2 semapv:UnspecifiedMatching -DOID:0070114 Niemann-Pick disease type C2 oboInOwl:hasDbXref OMIM:607625 semapv:UnspecifiedMatching -DOID:0070114 Niemann-Pick disease type C2 skos:exactMatch OMIM:607625 semapv:UnspecifiedMatching DOID:0070115 Meckel syndrome 1 oboInOwl:hasDbXref ICD10CM:Q61.9 semapv:UnspecifiedMatching -DOID:0070115 Meckel syndrome 1 oboInOwl:hasDbXref OMIM:249000 semapv:UnspecifiedMatching -DOID:0070115 Meckel syndrome 1 skos:exactMatch OMIM:249000 semapv:UnspecifiedMatching DOID:0070116 Meckel syndrome 2 oboInOwl:hasDbXref ICD10CM:Q61.9 semapv:UnspecifiedMatching -DOID:0070116 Meckel syndrome 2 oboInOwl:hasDbXref OMIM:603194 semapv:UnspecifiedMatching -DOID:0070116 Meckel syndrome 2 skos:exactMatch OMIM:603194 semapv:UnspecifiedMatching DOID:0070117 Meckel syndrome 3 oboInOwl:hasDbXref ICD10CM:Q61.9 semapv:UnspecifiedMatching -DOID:0070117 Meckel syndrome 3 oboInOwl:hasDbXref OMIM:607361 semapv:UnspecifiedMatching -DOID:0070117 Meckel syndrome 3 skos:exactMatch OMIM:607361 semapv:UnspecifiedMatching DOID:0070118 Meckel syndrome 4 oboInOwl:hasDbXref ICD10CM:Q61.9 semapv:UnspecifiedMatching -DOID:0070118 Meckel syndrome 4 oboInOwl:hasDbXref OMIM:611134 semapv:UnspecifiedMatching -DOID:0070118 Meckel syndrome 4 skos:exactMatch OMIM:611134 semapv:UnspecifiedMatching DOID:0070119 Meckel syndrome 5 oboInOwl:hasDbXref ICD10CM:Q61.9 semapv:UnspecifiedMatching -DOID:0070119 Meckel syndrome 5 oboInOwl:hasDbXref OMIM:611561 semapv:UnspecifiedMatching -DOID:0070119 Meckel syndrome 5 skos:exactMatch OMIM:611561 semapv:UnspecifiedMatching DOID:0070120 Meckel syndrome 6 oboInOwl:hasDbXref ICD10CM:Q61.9 semapv:UnspecifiedMatching -DOID:0070120 Meckel syndrome 6 oboInOwl:hasDbXref OMIM:612284 semapv:UnspecifiedMatching -DOID:0070120 Meckel syndrome 6 skos:exactMatch OMIM:612284 semapv:UnspecifiedMatching DOID:0070121 Meckel syndrome 7 oboInOwl:hasDbXref MESH:C537756 semapv:UnspecifiedMatching -DOID:0070121 Meckel syndrome 7 oboInOwl:hasDbXref OMIM:267010 semapv:UnspecifiedMatching DOID:0070121 Meckel syndrome 7 oboInOwl:hasDbXref ORDO:3032 semapv:UnspecifiedMatching DOID:0070121 Meckel syndrome 7 oboInOwl:hasDbXref UMLS:C2673885 semapv:UnspecifiedMatching -DOID:0070121 Meckel syndrome 7 skos:exactMatch OMIM:267010 semapv:UnspecifiedMatching DOID:0070122 Meckel syndrome 8 oboInOwl:hasDbXref ICD10CM:Q61.9 semapv:UnspecifiedMatching -DOID:0070122 Meckel syndrome 8 oboInOwl:hasDbXref OMIM:613885 semapv:UnspecifiedMatching DOID:0070122 Meckel syndrome 8 oboInOwl:hasDbXref ORDO:90674 semapv:UnspecifiedMatching -DOID:0070122 Meckel syndrome 8 skos:exactMatch OMIM:613885 semapv:UnspecifiedMatching DOID:0070123 congenital nongoitrous hypothyroidism 4 oboInOwl:hasDbXref ICD10CM:E03.1 semapv:UnspecifiedMatching -DOID:0070123 congenital nongoitrous hypothyroidism 4 oboInOwl:hasDbXref OMIM:275100 semapv:UnspecifiedMatching -DOID:0070123 congenital nongoitrous hypothyroidism 4 skos:exactMatch OMIM:275100 semapv:UnspecifiedMatching DOID:0070124 congenital nongoitrous hypothyroidism 2 oboInOwl:hasDbXref ICD10CM:E03.1 semapv:UnspecifiedMatching -DOID:0070124 congenital nongoitrous hypothyroidism 2 oboInOwl:hasDbXref OMIM:218700 semapv:UnspecifiedMatching -DOID:0070124 congenital nongoitrous hypothyroidism 2 skos:exactMatch OMIM:218700 semapv:UnspecifiedMatching DOID:0070125 congenital nongoitrous hypothyroidism 5 oboInOwl:hasDbXref ICD10CM:E03.1 semapv:UnspecifiedMatching -DOID:0070125 congenital nongoitrous hypothyroidism 5 oboInOwl:hasDbXref OMIM:225250 semapv:UnspecifiedMatching DOID:0070125 congenital nongoitrous hypothyroidism 5 oboInOwl:hasDbXref ORDO:90673 semapv:UnspecifiedMatching -DOID:0070125 congenital nongoitrous hypothyroidism 5 skos:exactMatch OMIM:225250 semapv:UnspecifiedMatching DOID:0070126 congenital nongoitrous hypothyroidism 1 oboInOwl:hasDbXref ICD10CM:E03.1 semapv:UnspecifiedMatching -DOID:0070126 congenital nongoitrous hypothyroidism 1 oboInOwl:hasDbXref OMIM:275200 semapv:UnspecifiedMatching -DOID:0070126 congenital nongoitrous hypothyroidism 1 skos:exactMatch OMIM:275200 semapv:UnspecifiedMatching DOID:0070127 congenital nongoitrous hypothyroidism 3 oboInOwl:hasDbXref ICD10CM:E03.1 semapv:UnspecifiedMatching -DOID:0070127 congenital nongoitrous hypothyroidism 3 oboInOwl:hasDbXref OMIM:609893 semapv:UnspecifiedMatching -DOID:0070127 congenital nongoitrous hypothyroidism 3 skos:exactMatch OMIM:609893 semapv:UnspecifiedMatching DOID:0070128 congenital nongoitrous hypothyroidism 6 oboInOwl:hasDbXref ICD10CM:E03.1 semapv:UnspecifiedMatching -DOID:0070128 congenital nongoitrous hypothyroidism 6 oboInOwl:hasDbXref OMIM:614450 semapv:UnspecifiedMatching -DOID:0070128 congenital nongoitrous hypothyroidism 6 skos:exactMatch OMIM:614450 semapv:UnspecifiedMatching DOID:0070129 autosomal recessive cutis laxa type IID oboInOwl:hasDbXref ICD10CM:Q82.8 semapv:UnspecifiedMatching -DOID:0070129 autosomal recessive cutis laxa type IID oboInOwl:hasDbXref OMIM:617403 semapv:UnspecifiedMatching -DOID:0070129 autosomal recessive cutis laxa type IID skos:exactMatch OMIM:617403 semapv:UnspecifiedMatching DOID:0070130 autosomal dominant cutis laxa 1 oboInOwl:hasDbXref ICD10CM:Q82.8 semapv:UnspecifiedMatching -DOID:0070130 autosomal dominant cutis laxa 1 oboInOwl:hasDbXref OMIM:123700 semapv:UnspecifiedMatching -DOID:0070130 autosomal dominant cutis laxa 1 skos:exactMatch OMIM:123700 semapv:UnspecifiedMatching DOID:0070131 autosomal dominant cutis laxa 3 oboInOwl:hasDbXref ICD10CM:Q82.8 semapv:UnspecifiedMatching -DOID:0070131 autosomal dominant cutis laxa 3 oboInOwl:hasDbXref OMIM:616603 semapv:UnspecifiedMatching -DOID:0070131 autosomal dominant cutis laxa 3 skos:exactMatch OMIM:616603 semapv:UnspecifiedMatching DOID:0070132 autosomal recessive cutis laxa type IIIA oboInOwl:hasDbXref ICD10CM:Q82.8 semapv:UnspecifiedMatching -DOID:0070132 autosomal recessive cutis laxa type IIIA oboInOwl:hasDbXref OMIM:219150 semapv:UnspecifiedMatching DOID:0070132 autosomal recessive cutis laxa type IIIA oboInOwl:hasDbXref ORDO:35664 semapv:UnspecifiedMatching -DOID:0070132 autosomal recessive cutis laxa type IIIA skos:exactMatch OMIM:219150 semapv:UnspecifiedMatching DOID:0070133 autosomal recessive cutis laxa type IB oboInOwl:hasDbXref ICD10CM:Q82.8 semapv:UnspecifiedMatching -DOID:0070133 autosomal recessive cutis laxa type IB oboInOwl:hasDbXref OMIM:614437 semapv:UnspecifiedMatching -DOID:0070133 autosomal recessive cutis laxa type IB skos:exactMatch OMIM:614437 semapv:UnspecifiedMatching DOID:0070134 autosomal recessive cutis laxa type IIA oboInOwl:hasDbXref ICD10CM:Q82.8 semapv:UnspecifiedMatching -DOID:0070134 autosomal recessive cutis laxa type IIA oboInOwl:hasDbXref OMIM:219200 semapv:UnspecifiedMatching -DOID:0070134 autosomal recessive cutis laxa type IIA skos:exactMatch OMIM:219200 semapv:UnspecifiedMatching DOID:0070135 autosomal recessive cutis laxa type IA oboInOwl:hasDbXref ICD10CM:Q82.8 semapv:UnspecifiedMatching -DOID:0070135 autosomal recessive cutis laxa type IA oboInOwl:hasDbXref OMIM:219100 semapv:UnspecifiedMatching -DOID:0070135 autosomal recessive cutis laxa type IA skos:exactMatch OMIM:219100 semapv:UnspecifiedMatching DOID:0070136 autosomal dominant cutis laxa 2 oboInOwl:hasDbXref ICD10CM:Q82.8 semapv:UnspecifiedMatching -DOID:0070136 autosomal dominant cutis laxa 2 oboInOwl:hasDbXref OMIM:614434 semapv:UnspecifiedMatching -DOID:0070136 autosomal dominant cutis laxa 2 skos:exactMatch OMIM:614434 semapv:UnspecifiedMatching DOID:0070137 autosomal recessive cutis laxa type IIB oboInOwl:hasDbXref ICD10CM:Q82.8 semapv:UnspecifiedMatching -DOID:0070137 autosomal recessive cutis laxa type IIB oboInOwl:hasDbXref OMIM:612940 semapv:UnspecifiedMatching DOID:0070137 autosomal recessive cutis laxa type IIB oboInOwl:hasDbXref ORDO:357064 semapv:UnspecifiedMatching -DOID:0070137 autosomal recessive cutis laxa type IIB skos:exactMatch OMIM:612940 semapv:UnspecifiedMatching DOID:0070138 autosomal recessive cutis laxa type IIIB oboInOwl:hasDbXref ICD10CM:Q82.8 semapv:UnspecifiedMatching -DOID:0070138 autosomal recessive cutis laxa type IIIB oboInOwl:hasDbXref OMIM:614438 semapv:UnspecifiedMatching -DOID:0070138 autosomal recessive cutis laxa type IIIB skos:exactMatch OMIM:614438 semapv:UnspecifiedMatching DOID:0070139 autosomal recessive cutis laxa type IC oboInOwl:hasDbXref MESH:C567716 semapv:UnspecifiedMatching -DOID:0070139 autosomal recessive cutis laxa type IC oboInOwl:hasDbXref OMIM:613177 semapv:UnspecifiedMatching DOID:0070139 autosomal recessive cutis laxa type IC oboInOwl:hasDbXref ORDO:221145 semapv:UnspecifiedMatching DOID:0070139 autosomal recessive cutis laxa type IC oboInOwl:hasDbXref UMLS:C2750804 semapv:UnspecifiedMatching -DOID:0070139 autosomal recessive cutis laxa type IC skos:exactMatch OMIM:613177 semapv:UnspecifiedMatching DOID:0070140 autosomal recessive cutis laxa type IIC oboInOwl:hasDbXref ICD10CM:Q82.8 semapv:UnspecifiedMatching -DOID:0070140 autosomal recessive cutis laxa type IIC oboInOwl:hasDbXref OMIM:617402 semapv:UnspecifiedMatching -DOID:0070140 autosomal recessive cutis laxa type IIC skos:exactMatch OMIM:617402 semapv:UnspecifiedMatching DOID:0070141 autosomal recessive cutis laxa type II classic type oboInOwl:hasDbXref ICD10CM:Q82.8 semapv:UnspecifiedMatching DOID:0070141 autosomal recessive cutis laxa type II classic type oboInOwl:hasDbXref ORDO:357074 semapv:UnspecifiedMatching DOID:0070142 autosomal dominant cutis laxa oboInOwl:hasDbXref ICD10CM:Q82.8 semapv:UnspecifiedMatching @@ -5078,58 +2924,26 @@ DOID:0070145 hereditary sensory and autonomic neuropathy type 5 oboInOwl:hasDbXr DOID:0070145 hereditary sensory and autonomic neuropathy type 5 oboInOwl:hasDbXref MESH:D000699 semapv:UnspecifiedMatching DOID:0070145 hereditary sensory and autonomic neuropathy type 5 oboInOwl:hasDbXref MESH:D009477 semapv:UnspecifiedMatching DOID:0070145 hereditary sensory and autonomic neuropathy type 5 oboInOwl:hasDbXref NCI:C156360 semapv:UnspecifiedMatching -DOID:0070145 hereditary sensory and autonomic neuropathy type 5 oboInOwl:hasDbXref OMIM:608654 semapv:UnspecifiedMatching DOID:0070145 hereditary sensory and autonomic neuropathy type 5 oboInOwl:hasDbXref ORDO:608654 semapv:UnspecifiedMatching DOID:0070145 hereditary sensory and autonomic neuropathy type 5 oboInOwl:hasDbXref UMLS:C0002768 semapv:UnspecifiedMatching DOID:0070145 hereditary sensory and autonomic neuropathy type 5 oboInOwl:hasDbXref UMLS:C0020075 semapv:UnspecifiedMatching -DOID:0070145 hereditary sensory and autonomic neuropathy type 5 skos:exactMatch OMIM:608654 semapv:UnspecifiedMatching DOID:0070146 hereditary sensory neuropathy type 4 oboInOwl:hasDbXref GARD:3006 semapv:UnspecifiedMatching DOID:0070146 hereditary sensory neuropathy type 4 oboInOwl:hasDbXref MESH:D009477 semapv:UnspecifiedMatching DOID:0070146 hereditary sensory neuropathy type 4 oboInOwl:hasDbXref NCI:C118633 semapv:UnspecifiedMatching -DOID:0070146 hereditary sensory neuropathy type 4 oboInOwl:hasDbXref OMIM:256800 semapv:UnspecifiedMatching DOID:0070146 hereditary sensory neuropathy type 4 oboInOwl:hasDbXref ORDO:642 semapv:UnspecifiedMatching DOID:0070146 hereditary sensory neuropathy type 4 oboInOwl:hasDbXref UMLS:C0020074 semapv:UnspecifiedMatching -DOID:0070146 hereditary sensory neuropathy type 4 skos:exactMatch OMIM:256800 semapv:UnspecifiedMatching -DOID:0070147 hereditary sensory neuropathy type 2C oboInOwl:hasDbXref OMIM:614213 semapv:UnspecifiedMatching -DOID:0070147 hereditary sensory neuropathy type 2C skos:exactMatch OMIM:614213 semapv:UnspecifiedMatching DOID:0070148 hereditary sensory neuropathy type 1B oboInOwl:hasDbXref MESH:C564296 semapv:UnspecifiedMatching -DOID:0070148 hereditary sensory neuropathy type 1B oboInOwl:hasDbXref OMIM:608088 semapv:UnspecifiedMatching DOID:0070148 hereditary sensory neuropathy type 1B oboInOwl:hasDbXref ORDO:139564 semapv:UnspecifiedMatching DOID:0070148 hereditary sensory neuropathy type 1B oboInOwl:hasDbXref UMLS:C1842586 semapv:UnspecifiedMatching -DOID:0070148 hereditary sensory neuropathy type 1B skos:exactMatch OMIM:608088 semapv:UnspecifiedMatching DOID:0070149 hereditary sensory and autonomic neuropathy type 7 oboInOwl:hasDbXref GARD:12723 semapv:UnspecifiedMatching DOID:0070149 hereditary sensory and autonomic neuropathy type 7 oboInOwl:hasDbXref ICD10CM:G60.8 semapv:UnspecifiedMatching -DOID:0070149 hereditary sensory and autonomic neuropathy type 7 oboInOwl:hasDbXref OMIM:615548 semapv:UnspecifiedMatching DOID:0070149 hereditary sensory and autonomic neuropathy type 7 oboInOwl:hasDbXref ORDO:391397 semapv:UnspecifiedMatching -DOID:0070149 hereditary sensory and autonomic neuropathy type 7 skos:exactMatch OMIM:615548 semapv:UnspecifiedMatching -DOID:0070150 hereditary sensory and autonomic neuropathy type 2B oboInOwl:hasDbXref OMIM:613115 semapv:UnspecifiedMatching -DOID:0070150 hereditary sensory and autonomic neuropathy type 2B skos:exactMatch OMIM:613115 semapv:UnspecifiedMatching DOID:0070151 hereditary sensory and autonomic neuropathy type 6 oboInOwl:hasDbXref ICD10CM:G60.8 semapv:UnspecifiedMatching -DOID:0070151 hereditary sensory and autonomic neuropathy type 6 oboInOwl:hasDbXref OMIM:614653 semapv:UnspecifiedMatching DOID:0070151 hereditary sensory and autonomic neuropathy type 6 oboInOwl:hasDbXref ORDO:314381 semapv:UnspecifiedMatching -DOID:0070151 hereditary sensory and autonomic neuropathy type 6 skos:exactMatch OMIM:614653 semapv:UnspecifiedMatching -DOID:0070152 hereditary sensory and autonomic neuropathy type 1A oboInOwl:hasDbXref OMIM:162400 semapv:UnspecifiedMatching -DOID:0070152 hereditary sensory and autonomic neuropathy type 1A skos:exactMatch OMIM:162400 semapv:UnspecifiedMatching -DOID:0070153 hereditary sensory and autonomic neuropathy type 8 oboInOwl:hasDbXref OMIM:616488 semapv:UnspecifiedMatching DOID:0070153 hereditary sensory and autonomic neuropathy type 8 oboInOwl:hasDbXref ORDO:478664 semapv:UnspecifiedMatching -DOID:0070153 hereditary sensory and autonomic neuropathy type 8 skos:exactMatch OMIM:616488 semapv:UnspecifiedMatching -DOID:0070154 hereditary sensory neuropathy type 1F oboInOwl:hasDbXref OMIM:615632 semapv:UnspecifiedMatching -DOID:0070154 hereditary sensory neuropathy type 1F skos:exactMatch OMIM:615632 semapv:UnspecifiedMatching -DOID:0070155 hereditary sensory and autonomic neuropathy type 2A oboInOwl:hasDbXref OMIM:201300 semapv:UnspecifiedMatching -DOID:0070155 hereditary sensory and autonomic neuropathy type 2A skos:exactMatch OMIM:201300 semapv:UnspecifiedMatching -DOID:0070156 hereditary sensory neuropathy type 1D oboInOwl:hasDbXref OMIM:613708 semapv:UnspecifiedMatching -DOID:0070156 hereditary sensory neuropathy type 1D skos:exactMatch OMIM:613708 semapv:UnspecifiedMatching -DOID:0070157 hereditary sensory and autonomic neuropathy type 1C oboInOwl:hasDbXref OMIM:613640 semapv:UnspecifiedMatching -DOID:0070157 hereditary sensory and autonomic neuropathy type 1C skos:exactMatch OMIM:613640 semapv:UnspecifiedMatching DOID:0070158 hereditary sensory neuropathy type 1E oboInOwl:hasDbXref GARD:11927 semapv:UnspecifiedMatching DOID:0070158 hereditary sensory neuropathy type 1E oboInOwl:hasDbXref ICD10CM:G60.8 semapv:UnspecifiedMatching -DOID:0070158 hereditary sensory neuropathy type 1E oboInOwl:hasDbXref OMIM:614116 semapv:UnspecifiedMatching DOID:0070158 hereditary sensory neuropathy type 1E oboInOwl:hasDbXref ORDO:456318 semapv:UnspecifiedMatching -DOID:0070158 hereditary sensory neuropathy type 1E skos:exactMatch OMIM:614116 semapv:UnspecifiedMatching -DOID:0070159 hereditary sensory neuropathy X-linked oboInOwl:hasDbXref OMIM:310470 semapv:UnspecifiedMatching -DOID:0070159 hereditary sensory neuropathy X-linked skos:exactMatch OMIM:310470 semapv:UnspecifiedMatching -DOID:0070160 atypical hereditary sensory neuropathy oboInOwl:hasDbXref OMIM:256860 semapv:UnspecifiedMatching -DOID:0070160 atypical hereditary sensory neuropathy skos:exactMatch OMIM:256860 semapv:UnspecifiedMatching DOID:0070161 hereditary sensory and autonomic neuropathy type 2 oboInOwl:hasDbXref GARD:3976 semapv:UnspecifiedMatching DOID:0070161 hereditary sensory and autonomic neuropathy type 2 oboInOwl:hasDbXref MESH:D002607 semapv:UnspecifiedMatching DOID:0070161 hereditary sensory and autonomic neuropathy type 2 oboInOwl:hasDbXref MESH:D009477 semapv:UnspecifiedMatching @@ -5141,131 +2955,37 @@ DOID:0070162 hereditary sensory and autonomic neuropathy type 1 oboInOwl:hasDbXr DOID:0070162 hereditary sensory and autonomic neuropathy type 1 oboInOwl:hasDbXref NCI:C170433 semapv:UnspecifiedMatching DOID:0070162 hereditary sensory and autonomic neuropathy type 1 oboInOwl:hasDbXref ORDO:36386 semapv:UnspecifiedMatching DOID:0070162 hereditary sensory and autonomic neuropathy type 1 oboInOwl:hasDbXref UMLS:C0020071 semapv:UnspecifiedMatching -DOID:0070163 spermatogenic failure 21 oboInOwl:hasDbXref OMIM:617644 semapv:UnspecifiedMatching -DOID:0070163 spermatogenic failure 21 skos:exactMatch OMIM:617644 semapv:UnspecifiedMatching -DOID:0070164 spermatogenic failure 2 oboInOwl:hasDbXref OMIM:108420 semapv:UnspecifiedMatching -DOID:0070164 spermatogenic failure 2 skos:exactMatch OMIM:108420 semapv:UnspecifiedMatching -DOID:0070165 spermatogenic failure 18 oboInOwl:hasDbXref OMIM:617576 semapv:UnspecifiedMatching -DOID:0070165 spermatogenic failure 18 skos:exactMatch OMIM:617576 semapv:UnspecifiedMatching -DOID:0070166 spermatogenic failure 20 oboInOwl:hasDbXref OMIM:617593 semapv:UnspecifiedMatching -DOID:0070166 spermatogenic failure 20 skos:exactMatch OMIM:617593 semapv:UnspecifiedMatching DOID:0070167 spermatogenic failure 6 oboInOwl:hasDbXref MESH:D000072660 semapv:UnspecifiedMatching DOID:0070167 spermatogenic failure 6 oboInOwl:hasDbXref NCI:C158500 semapv:UnspecifiedMatching -DOID:0070167 spermatogenic failure 6 oboInOwl:hasDbXref OMIM:102530 semapv:UnspecifiedMatching -DOID:0070167 spermatogenic failure 6 skos:exactMatch OMIM:102530 semapv:UnspecifiedMatching -DOID:0070168 spermatogenic failure 3 oboInOwl:hasDbXref OMIM:606766 semapv:UnspecifiedMatching -DOID:0070168 spermatogenic failure 3 skos:exactMatch OMIM:606766 semapv:UnspecifiedMatching -DOID:0070169 spermatogenic failure 8 oboInOwl:hasDbXref OMIM:613957 semapv:UnspecifiedMatching -DOID:0070169 spermatogenic failure 8 skos:exactMatch OMIM:613957 semapv:UnspecifiedMatching -DOID:0070170 spermatogenic failure 19 oboInOwl:hasDbXref OMIM:617592 semapv:UnspecifiedMatching -DOID:0070170 spermatogenic failure 19 skos:exactMatch OMIM:617592 semapv:UnspecifiedMatching -DOID:0070171 spermatogenic failure 12 oboInOwl:hasDbXref OMIM:615413 semapv:UnspecifiedMatching -DOID:0070171 spermatogenic failure 12 skos:exactMatch OMIM:615413 semapv:UnspecifiedMatching -DOID:0070172 spermatogenic failure 15 oboInOwl:hasDbXref OMIM:616950 semapv:UnspecifiedMatching -DOID:0070172 spermatogenic failure 15 skos:exactMatch OMIM:616950 semapv:UnspecifiedMatching DOID:0070173 spermatogenic failure 7 oboInOwl:hasDbXref MESH:C567832 semapv:UnspecifiedMatching -DOID:0070173 spermatogenic failure 7 oboInOwl:hasDbXref OMIM:612997 semapv:UnspecifiedMatching -DOID:0070173 spermatogenic failure 7 skos:exactMatch OMIM:612997 semapv:UnspecifiedMatching -DOID:0070174 spermatogenic failure 17 oboInOwl:hasDbXref OMIM:617214 semapv:UnspecifiedMatching -DOID:0070174 spermatogenic failure 17 skos:exactMatch OMIM:617214 semapv:UnspecifiedMatching -DOID:0070176 spermatogenic failure 4 oboInOwl:hasDbXref OMIM:270960 semapv:UnspecifiedMatching -DOID:0070176 spermatogenic failure 4 skos:exactMatch OMIM:270960 semapv:UnspecifiedMatching -DOID:0070177 spermatogenic failure 22 oboInOwl:hasDbXref OMIM:617706 semapv:UnspecifiedMatching -DOID:0070177 spermatogenic failure 22 skos:exactMatch OMIM:617706 semapv:UnspecifiedMatching -DOID:0070178 spermatogenic failure 10 oboInOwl:hasDbXref OMIM:614822 semapv:UnspecifiedMatching -DOID:0070178 spermatogenic failure 10 skos:exactMatch OMIM:614822 semapv:UnspecifiedMatching -DOID:0070179 spermatogenic failure 14 oboInOwl:hasDbXref OMIM:615842 semapv:UnspecifiedMatching -DOID:0070179 spermatogenic failure 14 skos:exactMatch OMIM:615842 semapv:UnspecifiedMatching -DOID:0070180 spermatogenic failure 11 oboInOwl:hasDbXref OMIM:615081 semapv:UnspecifiedMatching -DOID:0070180 spermatogenic failure 11 skos:exactMatch OMIM:615081 semapv:UnspecifiedMatching -DOID:0070181 spermatogenic failure 23 oboInOwl:hasDbXref OMIM:617707 semapv:UnspecifiedMatching -DOID:0070181 spermatogenic failure 23 skos:exactMatch OMIM:617707 semapv:UnspecifiedMatching -DOID:0070182 spermatogenic failure 13 oboInOwl:hasDbXref OMIM:615841 semapv:UnspecifiedMatching -DOID:0070182 spermatogenic failure 13 skos:exactMatch OMIM:615841 semapv:UnspecifiedMatching DOID:0070183 spermatogenic failure 5 oboInOwl:hasDbXref GARD:12385 semapv:UnspecifiedMatching DOID:0070183 spermatogenic failure 5 oboInOwl:hasDbXref MESH:C562903 semapv:UnspecifiedMatching -DOID:0070183 spermatogenic failure 5 oboInOwl:hasDbXref OMIM:243060 semapv:UnspecifiedMatching DOID:0070183 spermatogenic failure 5 oboInOwl:hasDbXref ORDO:137893 semapv:UnspecifiedMatching -DOID:0070183 spermatogenic failure 5 skos:exactMatch OMIM:243060 semapv:UnspecifiedMatching -DOID:0070184 spermatogenic failure 16 oboInOwl:hasDbXref OMIM:617187 semapv:UnspecifiedMatching -DOID:0070184 spermatogenic failure 16 skos:exactMatch OMIM:617187 semapv:UnspecifiedMatching -DOID:0070185 X-linked spermatogenic failure 2 oboInOwl:hasDbXref OMIM:309120 semapv:UnspecifiedMatching -DOID:0070185 X-linked spermatogenic failure 2 skos:exactMatch OMIM:309120 semapv:UnspecifiedMatching -DOID:0070186 Y-linked spermatogenic failure 1 oboInOwl:hasDbXref OMIM:400042 semapv:UnspecifiedMatching -DOID:0070186 Y-linked spermatogenic failure 1 skos:exactMatch OMIM:400042 semapv:UnspecifiedMatching DOID:0070187 Y-linked spermatogenic failure 2 oboInOwl:hasDbXref MESH:C564030 semapv:UnspecifiedMatching -DOID:0070187 Y-linked spermatogenic failure 2 oboInOwl:hasDbXref OMIM:415000 semapv:UnspecifiedMatching -DOID:0070187 Y-linked spermatogenic failure 2 skos:exactMatch OMIM:415000 semapv:UnspecifiedMatching -DOID:0070188 spermatogenic failure 1 oboInOwl:hasDbXref OMIM:258150 semapv:UnspecifiedMatching -DOID:0070188 spermatogenic failure 1 skos:exactMatch OMIM:258150 semapv:UnspecifiedMatching -DOID:0070189 X-linked spermatogenic failure 1 oboInOwl:hasDbXref OMIM:305700 semapv:UnspecifiedMatching -DOID:0070189 X-linked spermatogenic failure 1 skos:exactMatch OMIM:305700 semapv:UnspecifiedMatching -DOID:0070191 autosomal recessive chronic granulomatous disease 2 oboInOwl:hasDbXref OMIM:233710 semapv:UnspecifiedMatching -DOID:0070191 autosomal recessive chronic granulomatous disease 2 skos:exactMatch OMIM:233710 semapv:UnspecifiedMatching -DOID:0070192 autosomal recessive chronic granulomatous disease 1 oboInOwl:hasDbXref OMIM:233700 semapv:UnspecifiedMatching -DOID:0070192 autosomal recessive chronic granulomatous disease 1 skos:exactMatch OMIM:233700 semapv:UnspecifiedMatching -DOID:0070193 autosomal recessive chronic granulomatous disease 4 oboInOwl:hasDbXref OMIM:233690 semapv:UnspecifiedMatching -DOID:0070193 autosomal recessive chronic granulomatous disease 4 skos:exactMatch OMIM:233690 semapv:UnspecifiedMatching -DOID:0070194 autosomal recessive chronic granulomatous disease 3 oboInOwl:hasDbXref OMIM:613960 semapv:UnspecifiedMatching -DOID:0070194 autosomal recessive chronic granulomatous disease 3 skos:exactMatch OMIM:613960 semapv:UnspecifiedMatching -DOID:0070195 X-linked chronic granulomatous disease oboInOwl:hasDbXref OMIM:306400 semapv:UnspecifiedMatching -DOID:0070195 X-linked chronic granulomatous disease skos:exactMatch OMIM:306400 semapv:UnspecifiedMatching -DOID:0070196 infantile-onset distal myopathy oboInOwl:hasDbXref OMIM:160300 semapv:UnspecifiedMatching -DOID:0070196 infantile-onset distal myopathy skos:exactMatch OMIM:160300 semapv:UnspecifiedMatching DOID:0070197 distal myopathy 1 oboInOwl:hasDbXref GARD:10769 semapv:UnspecifiedMatching -DOID:0070197 distal myopathy 1 oboInOwl:hasDbXref OMIM:160500 semapv:UnspecifiedMatching DOID:0070197 distal myopathy 1 oboInOwl:hasDbXref ORDO:59135 semapv:UnspecifiedMatching -DOID:0070197 distal myopathy 1 skos:exactMatch OMIM:160500 semapv:UnspecifiedMatching DOID:0070198 Miyoshi muscular dystrophy oboInOwl:hasDbXref GARD:9676 semapv:UnspecifiedMatching DOID:0070198 Miyoshi muscular dystrophy oboInOwl:hasDbXref MESH:C537480 semapv:UnspecifiedMatching -DOID:0070198 Miyoshi muscular dystrophy oboInOwl:hasDbXref OMIMPS:254130 semapv:UnspecifiedMatching DOID:0070198 Miyoshi muscular dystrophy oboInOwl:hasDbXref ORDO:45448 semapv:UnspecifiedMatching -DOID:0070198 Miyoshi muscular dystrophy skos:exactMatch OMIMPS:254130 semapv:UnspecifiedMatching -DOID:0070199 Miyoshi muscular dystrophy 1 oboInOwl:hasDbXref OMIM:254130 semapv:UnspecifiedMatching -DOID:0070199 Miyoshi muscular dystrophy 1 skos:exactMatch OMIM:254130 semapv:UnspecifiedMatching DOID:0070200 Miyoshi muscular dystrophy 2 oboInOwl:hasDbXref MESH:C567646 semapv:UnspecifiedMatching -DOID:0070200 Miyoshi muscular dystrophy 2 oboInOwl:hasDbXref OMIM:613318 semapv:UnspecifiedMatching -DOID:0070200 Miyoshi muscular dystrophy 2 skos:exactMatch OMIM:613318 semapv:UnspecifiedMatching DOID:0070201 Miyoshi muscular dystrophy 3 oboInOwl:hasDbXref MESH:C567645 semapv:UnspecifiedMatching -DOID:0070201 Miyoshi muscular dystrophy 3 oboInOwl:hasDbXref OMIM:613319 semapv:UnspecifiedMatching -DOID:0070201 Miyoshi muscular dystrophy 3 skos:exactMatch OMIM:613319 semapv:UnspecifiedMatching DOID:0070202 familial partial lipodystrophy type 2 oboInOwl:hasDbXref GARD:3126 semapv:UnspecifiedMatching DOID:0070202 familial partial lipodystrophy type 2 oboInOwl:hasDbXref MESH:D052496 semapv:UnspecifiedMatching DOID:0070202 familial partial lipodystrophy type 2 oboInOwl:hasDbXref NCI:C165527 semapv:UnspecifiedMatching -DOID:0070202 familial partial lipodystrophy type 2 oboInOwl:hasDbXref OMIM:151660 semapv:UnspecifiedMatching DOID:0070202 familial partial lipodystrophy type 2 oboInOwl:hasDbXref ORDO:2348 semapv:UnspecifiedMatching DOID:0070202 familial partial lipodystrophy type 2 oboInOwl:hasDbXref UMLS:C1720860 semapv:UnspecifiedMatching -DOID:0070202 familial partial lipodystrophy type 2 skos:exactMatch OMIM:151660 semapv:UnspecifiedMatching -DOID:0070203 familial partial lipodystrophy type 5 oboInOwl:hasDbXref OMIM:615238 semapv:UnspecifiedMatching DOID:0070203 familial partial lipodystrophy type 5 oboInOwl:hasDbXref ORDO:435651 semapv:UnspecifiedMatching -DOID:0070203 familial partial lipodystrophy type 5 skos:exactMatch OMIM:615238 semapv:UnspecifiedMatching DOID:0070204 familial partial lipodystrophy type 3 oboInOwl:hasDbXref GARD:12600 semapv:UnspecifiedMatching DOID:0070204 familial partial lipodystrophy type 3 oboInOwl:hasDbXref MESH:D052496 semapv:UnspecifiedMatching -DOID:0070204 familial partial lipodystrophy type 3 oboInOwl:hasDbXref OMIM:604367 semapv:UnspecifiedMatching DOID:0070204 familial partial lipodystrophy type 3 oboInOwl:hasDbXref ORDO:79083 semapv:UnspecifiedMatching DOID:0070204 familial partial lipodystrophy type 3 oboInOwl:hasDbXref UMLS:C1720861 semapv:UnspecifiedMatching -DOID:0070204 familial partial lipodystrophy type 3 skos:exactMatch OMIM:604367 semapv:UnspecifiedMatching DOID:0070205 familial partial lipodystrophy type 4 oboInOwl:hasDbXref GARD:12601 semapv:UnspecifiedMatching -DOID:0070205 familial partial lipodystrophy type 4 oboInOwl:hasDbXref OMIM:613877 semapv:UnspecifiedMatching DOID:0070205 familial partial lipodystrophy type 4 oboInOwl:hasDbXref ORDO:280356 semapv:UnspecifiedMatching -DOID:0070205 familial partial lipodystrophy type 4 skos:exactMatch OMIM:613877 semapv:UnspecifiedMatching -DOID:0070206 familial partial lipodystrophy type 6 oboInOwl:hasDbXref OMIM:615980 semapv:UnspecifiedMatching DOID:0070206 familial partial lipodystrophy type 6 oboInOwl:hasDbXref ORDO:435660 semapv:UnspecifiedMatching -DOID:0070206 familial partial lipodystrophy type 6 skos:exactMatch OMIM:615980 semapv:UnspecifiedMatching DOID:0070207 familial partial lipodystrophy type 1 oboInOwl:hasDbXref GARD:12598 semapv:UnspecifiedMatching DOID:0070207 familial partial lipodystrophy type 1 oboInOwl:hasDbXref MESH:D052496 semapv:UnspecifiedMatching -DOID:0070207 familial partial lipodystrophy type 1 oboInOwl:hasDbXref OMIM:608600 semapv:UnspecifiedMatching DOID:0070207 familial partial lipodystrophy type 1 oboInOwl:hasDbXref ORDO:79084 semapv:UnspecifiedMatching DOID:0070207 familial partial lipodystrophy type 1 oboInOwl:hasDbXref UMLS:C1720859 semapv:UnspecifiedMatching -DOID:0070207 familial partial lipodystrophy type 1 skos:exactMatch OMIM:608600 semapv:UnspecifiedMatching -DOID:0070208 hereditary lymphedema IC oboInOwl:hasDbXref OMIM:613480 semapv:UnspecifiedMatching -DOID:0070208 hereditary lymphedema IC skos:exactMatch OMIM:613480 semapv:UnspecifiedMatching -DOID:0070209 hereditary lymphedema ID oboInOwl:hasDbXref OMIM:615907 semapv:UnspecifiedMatching -DOID:0070209 hereditary lymphedema ID skos:exactMatch OMIM:615907 semapv:UnspecifiedMatching -DOID:0070210 hereditary lymphedema IA oboInOwl:hasDbXref OMIM:153100 semapv:UnspecifiedMatching -DOID:0070210 hereditary lymphedema IA skos:exactMatch OMIM:153100 semapv:UnspecifiedMatching -DOID:0070211 hereditary lymphedema IB oboInOwl:hasDbXref OMIM:611944 semapv:UnspecifiedMatching -DOID:0070211 hereditary lymphedema IB skos:exactMatch OMIM:611944 semapv:UnspecifiedMatching DOID:0070212 hereditary lymphedema I oboInOwl:hasDbXref GARD:7220 semapv:UnspecifiedMatching DOID:0070212 hereditary lymphedema I oboInOwl:hasDbXref ICD10CM:Q82.0 semapv:UnspecifiedMatching DOID:0070212 hereditary lymphedema I oboInOwl:hasDbXref MESH:D008209 semapv:UnspecifiedMatching @@ -5275,307 +2995,123 @@ DOID:0070212 hereditary lymphedema I oboInOwl:hasDbXref UMLS:C1704423 semapv:Uns DOID:0070213 hereditary lymphedema II oboInOwl:hasDbXref GARD:3324 semapv:UnspecifiedMatching DOID:0070213 hereditary lymphedema II oboInOwl:hasDbXref ICD10CM:I89.0 semapv:UnspecifiedMatching DOID:0070213 hereditary lymphedema II oboInOwl:hasDbXref MESH:C562467 semapv:UnspecifiedMatching -DOID:0070213 hereditary lymphedema II oboInOwl:hasDbXref OMIM:153200 semapv:UnspecifiedMatching DOID:0070213 hereditary lymphedema II oboInOwl:hasDbXref ORDO:90186 semapv:UnspecifiedMatching DOID:0070213 hereditary lymphedema II oboInOwl:hasDbXref UMLS:C0238261 semapv:UnspecifiedMatching DOID:0070213 hereditary lymphedema II oboInOwl:hasDbXref UMLS:C1704424 semapv:UnspecifiedMatching -DOID:0070213 hereditary lymphedema II skos:exactMatch OMIM:153200 semapv:UnspecifiedMatching DOID:0070214 familial hyperinsulinemic hypoglycemia 7 oboInOwl:hasDbXref GARD:9932 semapv:UnspecifiedMatching DOID:0070214 familial hyperinsulinemic hypoglycemia 7 oboInOwl:hasDbXref MESH:C538376 semapv:UnspecifiedMatching DOID:0070214 familial hyperinsulinemic hypoglycemia 7 oboInOwl:hasDbXref NCI:C131839 semapv:UnspecifiedMatching -DOID:0070214 familial hyperinsulinemic hypoglycemia 7 oboInOwl:hasDbXref OMIM:610021 semapv:UnspecifiedMatching DOID:0070214 familial hyperinsulinemic hypoglycemia 7 oboInOwl:hasDbXref ORDO:165991 semapv:UnspecifiedMatching DOID:0070214 familial hyperinsulinemic hypoglycemia 7 oboInOwl:hasDbXref UMLS:C1864902 semapv:UnspecifiedMatching -DOID:0070214 familial hyperinsulinemic hypoglycemia 7 skos:exactMatch OMIM:610021 semapv:UnspecifiedMatching DOID:0070215 familial hyperinsulinemic hypoglycemia 4 oboInOwl:hasDbXref GARD:2819 semapv:UnspecifiedMatching -DOID:0070215 familial hyperinsulinemic hypoglycemia 4 oboInOwl:hasDbXref OMIM:609975 semapv:UnspecifiedMatching DOID:0070215 familial hyperinsulinemic hypoglycemia 4 oboInOwl:hasDbXref ORDO:71212 semapv:UnspecifiedMatching -DOID:0070215 familial hyperinsulinemic hypoglycemia 4 skos:exactMatch OMIM:609975 semapv:UnspecifiedMatching DOID:0070216 familial hyperinsulinemic hypoglycemia 3 oboInOwl:hasDbXref GARD:2818 semapv:UnspecifiedMatching -DOID:0070216 familial hyperinsulinemic hypoglycemia 3 oboInOwl:hasDbXref OMIM:602485 semapv:UnspecifiedMatching DOID:0070216 familial hyperinsulinemic hypoglycemia 3 oboInOwl:hasDbXref ORDO:79299 semapv:UnspecifiedMatching -DOID:0070216 familial hyperinsulinemic hypoglycemia 3 skos:exactMatch OMIM:602485 semapv:UnspecifiedMatching DOID:0070217 familial hyperinsulinemic hypoglycemia 6 oboInOwl:hasDbXref GARD:9931 semapv:UnspecifiedMatching -DOID:0070217 familial hyperinsulinemic hypoglycemia 6 oboInOwl:hasDbXref OMIM:606762 semapv:UnspecifiedMatching DOID:0070217 familial hyperinsulinemic hypoglycemia 6 oboInOwl:hasDbXref ORDO:35878 semapv:UnspecifiedMatching -DOID:0070217 familial hyperinsulinemic hypoglycemia 6 skos:exactMatch OMIM:606762 semapv:UnspecifiedMatching -DOID:0070218 familial hyperinsulinemic hypoglycemia 2 oboInOwl:hasDbXref OMIM:601820 semapv:UnspecifiedMatching -DOID:0070218 familial hyperinsulinemic hypoglycemia 2 skos:exactMatch OMIM:601820 semapv:UnspecifiedMatching -DOID:0070219 familial hyperinsulinemic hypoglycemia 1 oboInOwl:hasDbXref OMIM:256450 semapv:UnspecifiedMatching -DOID:0070219 familial hyperinsulinemic hypoglycemia 1 skos:exactMatch OMIM:256450 semapv:UnspecifiedMatching -DOID:0070220 familial hyperinsulinemic hypoglycemia 5 oboInOwl:hasDbXref OMIM:609968 semapv:UnspecifiedMatching DOID:0070220 familial hyperinsulinemic hypoglycemia 5 oboInOwl:hasDbXref ORDO:263458 semapv:UnspecifiedMatching -DOID:0070220 familial hyperinsulinemic hypoglycemia 5 skos:exactMatch OMIM:609968 semapv:UnspecifiedMatching DOID:0070221 progressive familial intrahepatic cholestasis oboInOwl:hasDbXref NCI:C84453 semapv:UnspecifiedMatching -DOID:0070221 progressive familial intrahepatic cholestasis oboInOwl:hasDbXref OMIMPS:211600 semapv:UnspecifiedMatching DOID:0070221 progressive familial intrahepatic cholestasis oboInOwl:hasDbXref ORDO:172 semapv:UnspecifiedMatching DOID:0070221 progressive familial intrahepatic cholestasis oboInOwl:hasDbXref UMLS:C0268312 semapv:UnspecifiedMatching -DOID:0070221 progressive familial intrahepatic cholestasis skos:exactMatch OMIMPS:211600 semapv:UnspecifiedMatching DOID:0070222 progressive familial intrahepatic cholestasis 2 oboInOwl:hasDbXref GARD:1288 semapv:UnspecifiedMatching DOID:0070222 progressive familial intrahepatic cholestasis 2 oboInOwl:hasDbXref MESH:C535934 semapv:UnspecifiedMatching -DOID:0070222 progressive familial intrahepatic cholestasis 2 oboInOwl:hasDbXref OMIM:601847 semapv:UnspecifiedMatching DOID:0070222 progressive familial intrahepatic cholestasis 2 oboInOwl:hasDbXref ORDO:79304 semapv:UnspecifiedMatching DOID:0070222 progressive familial intrahepatic cholestasis 2 oboInOwl:hasDbXref UMLS:C3489789 semapv:UnspecifiedMatching -DOID:0070222 progressive familial intrahepatic cholestasis 2 skos:exactMatch OMIM:601847 semapv:UnspecifiedMatching DOID:0070223 progressive familial intrahepatic cholestasis 3 oboInOwl:hasDbXref GARD:1289 semapv:UnspecifiedMatching DOID:0070223 progressive familial intrahepatic cholestasis 3 oboInOwl:hasDbXref MESH:C535935 semapv:UnspecifiedMatching -DOID:0070223 progressive familial intrahepatic cholestasis 3 oboInOwl:hasDbXref OMIM:602347 semapv:UnspecifiedMatching DOID:0070223 progressive familial intrahepatic cholestasis 3 oboInOwl:hasDbXref ORDO:79305 semapv:UnspecifiedMatching DOID:0070223 progressive familial intrahepatic cholestasis 3 oboInOwl:hasDbXref UMLS:C1865643 semapv:UnspecifiedMatching -DOID:0070223 progressive familial intrahepatic cholestasis 3 skos:exactMatch OMIM:602347 semapv:UnspecifiedMatching -DOID:0070224 progressive familial intrahepatic cholestasis 4 oboInOwl:hasDbXref OMIM:615878 semapv:UnspecifiedMatching DOID:0070224 progressive familial intrahepatic cholestasis 4 oboInOwl:hasDbXref ORDO:480483 semapv:UnspecifiedMatching -DOID:0070224 progressive familial intrahepatic cholestasis 4 skos:exactMatch OMIM:615878 semapv:UnspecifiedMatching -DOID:0070225 progressive familial intrahepatic cholestasis 5 oboInOwl:hasDbXref OMIM:617049 semapv:UnspecifiedMatching DOID:0070225 progressive familial intrahepatic cholestasis 5 oboInOwl:hasDbXref ORDO:480476 semapv:UnspecifiedMatching -DOID:0070225 progressive familial intrahepatic cholestasis 5 skos:exactMatch OMIM:617049 semapv:UnspecifiedMatching DOID:0070226 progressive familial intrahepatic cholestasis 1 oboInOwl:hasDbXref GARD:9802 semapv:UnspecifiedMatching DOID:0070226 progressive familial intrahepatic cholestasis 1 oboInOwl:hasDbXref MESH:C535933 semapv:UnspecifiedMatching -DOID:0070226 progressive familial intrahepatic cholestasis 1 oboInOwl:hasDbXref OMIM:211600 semapv:UnspecifiedMatching DOID:0070226 progressive familial intrahepatic cholestasis 1 oboInOwl:hasDbXref ORDO:79306 semapv:UnspecifiedMatching -DOID:0070226 progressive familial intrahepatic cholestasis 1 skos:exactMatch OMIM:211600 semapv:UnspecifiedMatching DOID:0070227 intrahepatic cholestasis of pregnancy oboInOwl:hasDbXref GARD:9804 semapv:UnspecifiedMatching DOID:0070227 intrahepatic cholestasis of pregnancy oboInOwl:hasDbXref MESH:C535932 semapv:UnspecifiedMatching DOID:0070227 intrahepatic cholestasis of pregnancy oboInOwl:hasDbXref ORDO:69665 semapv:UnspecifiedMatching -DOID:0070228 intrahepatic cholestasis of pregnancy 1 oboInOwl:hasDbXref OMIM:147480 semapv:UnspecifiedMatching -DOID:0070228 intrahepatic cholestasis of pregnancy 1 skos:exactMatch OMIM:147480 semapv:UnspecifiedMatching -DOID:0070229 intrahepatic cholestasis of pregnancy 3 oboInOwl:hasDbXref OMIM:614972 semapv:UnspecifiedMatching -DOID:0070229 intrahepatic cholestasis of pregnancy 3 skos:exactMatch OMIM:614972 semapv:UnspecifiedMatching DOID:0070230 benign recurrent intrahepatic cholestasis oboInOwl:hasDbXref GARD:12185 semapv:UnspecifiedMatching DOID:0070230 benign recurrent intrahepatic cholestasis oboInOwl:hasDbXref NCI:C84402 semapv:UnspecifiedMatching -DOID:0070230 benign recurrent intrahepatic cholestasis oboInOwl:hasDbXref OMIMPS:243300 semapv:UnspecifiedMatching DOID:0070230 benign recurrent intrahepatic cholestasis oboInOwl:hasDbXref ORDO:65682 semapv:UnspecifiedMatching -DOID:0070230 benign recurrent intrahepatic cholestasis skos:exactMatch OMIMPS:243300 semapv:UnspecifiedMatching DOID:0070231 benign recurrent intrahepatic cholestasis 1 oboInOwl:hasDbXref GARD:10028 semapv:UnspecifiedMatching -DOID:0070231 benign recurrent intrahepatic cholestasis 1 oboInOwl:hasDbXref OMIM:243300 semapv:UnspecifiedMatching DOID:0070231 benign recurrent intrahepatic cholestasis 1 oboInOwl:hasDbXref ORDO:99960 semapv:UnspecifiedMatching -DOID:0070231 benign recurrent intrahepatic cholestasis 1 skos:exactMatch OMIM:243300 semapv:UnspecifiedMatching DOID:0070232 benign recurrent intrahepatic cholestasis 2 oboInOwl:hasDbXref GARD:10029 semapv:UnspecifiedMatching DOID:0070232 benign recurrent intrahepatic cholestasis 2 oboInOwl:hasDbXref MESH:C535934 semapv:UnspecifiedMatching -DOID:0070232 benign recurrent intrahepatic cholestasis 2 oboInOwl:hasDbXref OMIM:605479 semapv:UnspecifiedMatching DOID:0070232 benign recurrent intrahepatic cholestasis 2 oboInOwl:hasDbXref ORDO:99961 semapv:UnspecifiedMatching -DOID:0070232 benign recurrent intrahepatic cholestasis 2 skos:exactMatch OMIM:605479 semapv:UnspecifiedMatching -DOID:0070233 Loeys-Dietz syndrome 4 oboInOwl:hasDbXref OMIM:614816 semapv:UnspecifiedMatching -DOID:0070233 Loeys-Dietz syndrome 4 skos:exactMatch OMIM:614816 semapv:UnspecifiedMatching -DOID:0070234 Loeys-Dietz syndrome 2 oboInOwl:hasDbXref OMIM:610168 semapv:UnspecifiedMatching -DOID:0070234 Loeys-Dietz syndrome 2 skos:exactMatch OMIM:610168 semapv:UnspecifiedMatching -DOID:0070235 Loeys-Dietz syndrome 1 oboInOwl:hasDbXref OMIM:609192 semapv:UnspecifiedMatching -DOID:0070235 Loeys-Dietz syndrome 1 skos:exactMatch OMIM:609192 semapv:UnspecifiedMatching -DOID:0070236 Loeys-Dietz syndrome 5 oboInOwl:hasDbXref OMIM:615582 semapv:UnspecifiedMatching -DOID:0070236 Loeys-Dietz syndrome 5 skos:exactMatch OMIM:615582 semapv:UnspecifiedMatching -DOID:0070237 Loeys-Dietz syndrome 3 oboInOwl:hasDbXref OMIM:613795 semapv:UnspecifiedMatching -DOID:0070237 Loeys-Dietz syndrome 3 skos:exactMatch OMIM:613795 semapv:UnspecifiedMatching -DOID:0070238 primary coenzyme Q10 deficiency 1 oboInOwl:hasDbXref OMIM:607426 semapv:UnspecifiedMatching -DOID:0070238 primary coenzyme Q10 deficiency 1 skos:exactMatch OMIM:607426 semapv:UnspecifiedMatching -DOID:0070239 primary coenzyme Q10 deficiency 2 oboInOwl:hasDbXref OMIM:614651 semapv:UnspecifiedMatching DOID:0070239 primary coenzyme Q10 deficiency 2 oboInOwl:hasDbXref ORDO:254898 semapv:UnspecifiedMatching -DOID:0070239 primary coenzyme Q10 deficiency 2 skos:exactMatch OMIM:614651 semapv:UnspecifiedMatching -DOID:0070240 primary coenzyme Q10 deficiency 3 oboInOwl:hasDbXref OMIM:614652 semapv:UnspecifiedMatching -DOID:0070240 primary coenzyme Q10 deficiency 3 skos:exactMatch OMIM:614652 semapv:UnspecifiedMatching DOID:0070241 primary coenzyme Q10 deficiency 4 oboInOwl:hasDbXref GARD:10294 semapv:UnspecifiedMatching -DOID:0070241 primary coenzyme Q10 deficiency 4 oboInOwl:hasDbXref OMIM:612016 semapv:UnspecifiedMatching DOID:0070241 primary coenzyme Q10 deficiency 4 oboInOwl:hasDbXref ORDO:139485 semapv:UnspecifiedMatching -DOID:0070241 primary coenzyme Q10 deficiency 4 skos:exactMatch OMIM:612016 semapv:UnspecifiedMatching -DOID:0070242 primary coenzyme Q10 deficiency 5 oboInOwl:hasDbXref OMIM:614654 semapv:UnspecifiedMatching DOID:0070242 primary coenzyme Q10 deficiency 5 oboInOwl:hasDbXref ORDO:319678 semapv:UnspecifiedMatching -DOID:0070242 primary coenzyme Q10 deficiency 5 skos:exactMatch OMIM:614654 semapv:UnspecifiedMatching -DOID:0070243 primary coenzyme Q10 deficiency 6 oboInOwl:hasDbXref OMIM:614650 semapv:UnspecifiedMatching DOID:0070243 primary coenzyme Q10 deficiency 6 oboInOwl:hasDbXref ORDO:280406 semapv:UnspecifiedMatching -DOID:0070243 primary coenzyme Q10 deficiency 6 skos:exactMatch OMIM:614650 semapv:UnspecifiedMatching -DOID:0070244 primary coenzyme Q10 deficiency 7 oboInOwl:hasDbXref OMIM:616276 semapv:UnspecifiedMatching DOID:0070244 primary coenzyme Q10 deficiency 7 oboInOwl:hasDbXref ORDO:457185 semapv:UnspecifiedMatching -DOID:0070244 primary coenzyme Q10 deficiency 7 skos:exactMatch OMIM:616276 semapv:UnspecifiedMatching -DOID:0070245 primary coenzyme Q10 deficiency 8 oboInOwl:hasDbXref OMIM:616733 semapv:UnspecifiedMatching -DOID:0070245 primary coenzyme Q10 deficiency 8 skos:exactMatch OMIM:616733 semapv:UnspecifiedMatching -DOID:0070246 X-linked Emery-Dreifuss muscular dystrophy 1 oboInOwl:hasDbXref OMIM:310300 semapv:UnspecifiedMatching -DOID:0070246 X-linked Emery-Dreifuss muscular dystrophy 1 skos:exactMatch OMIM:310300 semapv:UnspecifiedMatching DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching -DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 oboInOwl:hasDbXref OMIM:181350 semapv:UnspecifiedMatching DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 oboInOwl:hasDbXref ORDO:264 semapv:UnspecifiedMatching -DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 skos:exactMatch OMIM:181350 semapv:UnspecifiedMatching -DOID:0070248 autosomal recessive Emery-Dreifuss muscular dystrophy 3 oboInOwl:hasDbXref OMIM:616516 semapv:UnspecifiedMatching -DOID:0070248 autosomal recessive Emery-Dreifuss muscular dystrophy 3 skos:exactMatch OMIM:616516 semapv:UnspecifiedMatching -DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 oboInOwl:hasDbXref OMIM:612998 semapv:UnspecifiedMatching -DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 skos:exactMatch OMIM:612998 semapv:UnspecifiedMatching -DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 oboInOwl:hasDbXref OMIM:612999 semapv:UnspecifiedMatching -DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 skos:exactMatch OMIM:612999 semapv:UnspecifiedMatching -DOID:0070251 X-linked Emery-Dreifuss muscular dystrophy 6 oboInOwl:hasDbXref OMIM:300696 semapv:UnspecifiedMatching -DOID:0070251 X-linked Emery-Dreifuss muscular dystrophy 6 skos:exactMatch OMIM:300696 semapv:UnspecifiedMatching -DOID:0070252 autosomal dominant Emery-Dreifuss muscular dystrophy 7 oboInOwl:hasDbXref OMIM:614302 semapv:UnspecifiedMatching -DOID:0070252 autosomal dominant Emery-Dreifuss muscular dystrophy 7 skos:exactMatch OMIM:614302 semapv:UnspecifiedMatching DOID:0070253 congenital disorder of glycosylation type IIa oboInOwl:hasDbXref GARD:9828 semapv:UnspecifiedMatching DOID:0070253 congenital disorder of glycosylation type IIa oboInOwl:hasDbXref MESH:C535752 semapv:UnspecifiedMatching -DOID:0070253 congenital disorder of glycosylation type IIa oboInOwl:hasDbXref OMIM:212066 semapv:UnspecifiedMatching DOID:0070253 congenital disorder of glycosylation type IIa oboInOwl:hasDbXref ORDO:79329 semapv:UnspecifiedMatching DOID:0070253 congenital disorder of glycosylation type IIa oboInOwl:hasDbXref UMLS:C2931008 semapv:UnspecifiedMatching -DOID:0070253 congenital disorder of glycosylation type IIa skos:exactMatch OMIM:212066 semapv:UnspecifiedMatching DOID:0070254 congenital disorder of glycosylation type IIb oboInOwl:hasDbXref GARD:10767 semapv:UnspecifiedMatching DOID:0070254 congenital disorder of glycosylation type IIb oboInOwl:hasDbXref MESH:C565264 semapv:UnspecifiedMatching -DOID:0070254 congenital disorder of glycosylation type IIb oboInOwl:hasDbXref OMIM:606056 semapv:UnspecifiedMatching DOID:0070254 congenital disorder of glycosylation type IIb oboInOwl:hasDbXref ORDO:79330 semapv:UnspecifiedMatching DOID:0070254 congenital disorder of glycosylation type IIb oboInOwl:hasDbXref UMLS:C1853736 semapv:UnspecifiedMatching -DOID:0070254 congenital disorder of glycosylation type IIb skos:exactMatch OMIM:606056 semapv:UnspecifiedMatching DOID:0070255 congenital disorder of glycosylation type IIc oboInOwl:hasDbXref GARD:4634 semapv:UnspecifiedMatching DOID:0070255 congenital disorder of glycosylation type IIc oboInOwl:hasDbXref MESH:C535755 semapv:UnspecifiedMatching DOID:0070255 congenital disorder of glycosylation type IIc oboInOwl:hasDbXref NCI:C4690 semapv:UnspecifiedMatching -DOID:0070255 congenital disorder of glycosylation type IIc oboInOwl:hasDbXref OMIM:266265 semapv:UnspecifiedMatching DOID:0070255 congenital disorder of glycosylation type IIc oboInOwl:hasDbXref ORDO:99843 semapv:UnspecifiedMatching DOID:0070255 congenital disorder of glycosylation type IIc oboInOwl:hasDbXref UMLS:C0398739 semapv:UnspecifiedMatching -DOID:0070255 congenital disorder of glycosylation type IIc skos:exactMatch OMIM:266265 semapv:UnspecifiedMatching DOID:0070256 congenital disorder of glycosylation type IId oboInOwl:hasDbXref GARD:9841 semapv:UnspecifiedMatching DOID:0070256 congenital disorder of glycosylation type IId oboInOwl:hasDbXref MESH:C535753 semapv:UnspecifiedMatching -DOID:0070256 congenital disorder of glycosylation type IId oboInOwl:hasDbXref OMIM:607091 semapv:UnspecifiedMatching DOID:0070256 congenital disorder of glycosylation type IId oboInOwl:hasDbXref ORDO:79332 semapv:UnspecifiedMatching DOID:0070256 congenital disorder of glycosylation type IId oboInOwl:hasDbXref UMLS:C2931009 semapv:UnspecifiedMatching -DOID:0070256 congenital disorder of glycosylation type IId skos:exactMatch OMIM:607091 semapv:UnspecifiedMatching DOID:0070257 congenital disorder of glycosylation type IIe oboInOwl:hasDbXref GARD:9842 semapv:UnspecifiedMatching DOID:0070257 congenital disorder of glycosylation type IIe oboInOwl:hasDbXref MESH:C535754 semapv:UnspecifiedMatching -DOID:0070257 congenital disorder of glycosylation type IIe oboInOwl:hasDbXref OMIM:608779 semapv:UnspecifiedMatching DOID:0070257 congenital disorder of glycosylation type IIe oboInOwl:hasDbXref ORDO:79333 semapv:UnspecifiedMatching DOID:0070257 congenital disorder of glycosylation type IIe oboInOwl:hasDbXref UMLS:C2931010 semapv:UnspecifiedMatching -DOID:0070257 congenital disorder of glycosylation type IIe skos:exactMatch OMIM:608779 semapv:UnspecifiedMatching DOID:0070258 congenital disorder of glycosylation type IIf oboInOwl:hasDbXref GARD:12409 semapv:UnspecifiedMatching DOID:0070258 congenital disorder of glycosylation type IIf oboInOwl:hasDbXref MESH:C567040 semapv:UnspecifiedMatching -DOID:0070258 congenital disorder of glycosylation type IIf oboInOwl:hasDbXref OMIM:603585 semapv:UnspecifiedMatching DOID:0070258 congenital disorder of glycosylation type IIf oboInOwl:hasDbXref ORDO:238459 semapv:UnspecifiedMatching DOID:0070258 congenital disorder of glycosylation type IIf oboInOwl:hasDbXref UMLS:C1970344 semapv:UnspecifiedMatching -DOID:0070258 congenital disorder of glycosylation type IIf skos:exactMatch OMIM:603585 semapv:UnspecifiedMatching DOID:0070259 congenital disorder of glycosylation type IIg oboInOwl:hasDbXref GARD:10226 semapv:UnspecifiedMatching DOID:0070259 congenital disorder of glycosylation type IIg oboInOwl:hasDbXref MESH:C535756 semapv:UnspecifiedMatching -DOID:0070259 congenital disorder of glycosylation type IIg oboInOwl:hasDbXref OMIM:611209 semapv:UnspecifiedMatching DOID:0070259 congenital disorder of glycosylation type IIg oboInOwl:hasDbXref ORDO:263508 semapv:UnspecifiedMatching DOID:0070259 congenital disorder of glycosylation type IIg oboInOwl:hasDbXref UMLS:C2931011 semapv:UnspecifiedMatching -DOID:0070259 congenital disorder of glycosylation type IIg skos:exactMatch OMIM:611209 semapv:UnspecifiedMatching DOID:0070260 congenital disorder of glycosylation type IIh oboInOwl:hasDbXref GARD:12411 semapv:UnspecifiedMatching DOID:0070260 congenital disorder of glycosylation type IIh oboInOwl:hasDbXref MESH:C566987 semapv:UnspecifiedMatching -DOID:0070260 congenital disorder of glycosylation type IIh oboInOwl:hasDbXref OMIM:611182 semapv:UnspecifiedMatching DOID:0070260 congenital disorder of glycosylation type IIh oboInOwl:hasDbXref ORDO:95428 semapv:UnspecifiedMatching DOID:0070260 congenital disorder of glycosylation type IIh oboInOwl:hasDbXref UMLS:C1970021 semapv:UnspecifiedMatching -DOID:0070260 congenital disorder of glycosylation type IIh skos:exactMatch OMIM:611182 semapv:UnspecifiedMatching DOID:0070261 congenital disorder of glycosylation type IIi oboInOwl:hasDbXref GARD:12348 semapv:UnspecifiedMatching -DOID:0070261 congenital disorder of glycosylation type IIi oboInOwl:hasDbXref OMIM:613612 semapv:UnspecifiedMatching DOID:0070261 congenital disorder of glycosylation type IIi oboInOwl:hasDbXref ORDO:263487 semapv:UnspecifiedMatching -DOID:0070261 congenital disorder of glycosylation type IIi skos:exactMatch OMIM:613612 semapv:UnspecifiedMatching DOID:0070262 congenital disorder of glycosylation type IIj oboInOwl:hasDbXref GARD:12412 semapv:UnspecifiedMatching -DOID:0070262 congenital disorder of glycosylation type IIj oboInOwl:hasDbXref OMIM:613489 semapv:UnspecifiedMatching DOID:0070262 congenital disorder of glycosylation type IIj oboInOwl:hasDbXref ORDO:263501 semapv:UnspecifiedMatching -DOID:0070262 congenital disorder of glycosylation type IIj skos:exactMatch OMIM:613489 semapv:UnspecifiedMatching DOID:0070263 congenital disorder of glycosylation type IIk oboInOwl:hasDbXref GARD:12413 semapv:UnspecifiedMatching -DOID:0070263 congenital disorder of glycosylation type IIk oboInOwl:hasDbXref OMIM:614727 semapv:UnspecifiedMatching DOID:0070263 congenital disorder of glycosylation type IIk oboInOwl:hasDbXref ORDO:314667 semapv:UnspecifiedMatching -DOID:0070263 congenital disorder of glycosylation type IIk skos:exactMatch OMIM:614727 semapv:UnspecifiedMatching DOID:0070264 congenital disorder of glycosylation type IIl oboInOwl:hasDbXref GARD:10944 semapv:UnspecifiedMatching -DOID:0070264 congenital disorder of glycosylation type IIl oboInOwl:hasDbXref OMIM:614576 semapv:UnspecifiedMatching DOID:0070264 congenital disorder of glycosylation type IIl oboInOwl:hasDbXref ORDO:464443 semapv:UnspecifiedMatching -DOID:0070264 congenital disorder of glycosylation type IIl skos:exactMatch OMIM:614576 semapv:UnspecifiedMatching DOID:0070265 congenital disorder of glycosylation type IIm oboInOwl:hasDbXref GARD:12403 semapv:UnspecifiedMatching -DOID:0070265 congenital disorder of glycosylation type IIm oboInOwl:hasDbXref OMIM:300896 semapv:UnspecifiedMatching DOID:0070265 congenital disorder of glycosylation type IIm oboInOwl:hasDbXref ORDO:356961 semapv:UnspecifiedMatching -DOID:0070265 congenital disorder of glycosylation type IIm skos:exactMatch OMIM:300896 semapv:UnspecifiedMatching -DOID:0070266 congenital disorder of glycosylation type IIn oboInOwl:hasDbXref OMIM:616721 semapv:UnspecifiedMatching DOID:0070266 congenital disorder of glycosylation type IIn oboInOwl:hasDbXref ORDO:468699 semapv:UnspecifiedMatching -DOID:0070266 congenital disorder of glycosylation type IIn skos:exactMatch OMIM:616721 semapv:UnspecifiedMatching -DOID:0070267 congenital disorder of glycosylation type IIo oboInOwl:hasDbXref OMIM:616828 semapv:UnspecifiedMatching DOID:0070267 congenital disorder of glycosylation type IIo oboInOwl:hasDbXref ORDO:468684 semapv:UnspecifiedMatching -DOID:0070267 congenital disorder of glycosylation type IIo skos:exactMatch OMIM:616828 semapv:UnspecifiedMatching -DOID:0070268 congenital disorder of glycosylation type IIp oboInOwl:hasDbXref OMIM:616829 semapv:UnspecifiedMatching DOID:0070268 congenital disorder of glycosylation type IIp oboInOwl:hasDbXref ORDO:466703 semapv:UnspecifiedMatching -DOID:0070268 congenital disorder of glycosylation type IIp skos:exactMatch OMIM:616829 semapv:UnspecifiedMatching -DOID:0070269 congenital disorder of glycosylation type IIq oboInOwl:hasDbXref OMIM:617395 semapv:UnspecifiedMatching DOID:0070269 congenital disorder of glycosylation type IIq oboInOwl:hasDbXref ORDO:435934 semapv:UnspecifiedMatching -DOID:0070269 congenital disorder of glycosylation type IIq skos:exactMatch OMIM:617395 semapv:UnspecifiedMatching -DOID:0070270 hereditary nonpolyposis colorectal cancer type 8 oboInOwl:hasDbXref OMIM:613244 semapv:UnspecifiedMatching -DOID:0070270 hereditary nonpolyposis colorectal cancer type 8 skos:exactMatch OMIM:613244 semapv:UnspecifiedMatching -DOID:0070271 Lynch syndrome 1 oboInOwl:hasDbXref OMIM:120435 semapv:UnspecifiedMatching -DOID:0070271 Lynch syndrome 1 skos:exactMatch OMIM:120435 semapv:UnspecifiedMatching -DOID:0070272 hereditary nonpolyposis colorectal cancer type 5 oboInOwl:hasDbXref OMIM:614350 semapv:UnspecifiedMatching -DOID:0070272 hereditary nonpolyposis colorectal cancer type 5 skos:exactMatch OMIM:614350 semapv:UnspecifiedMatching -DOID:0070273 hereditary nonpolyposis colorectal cancer type 6 oboInOwl:hasDbXref OMIM:614331 semapv:UnspecifiedMatching -DOID:0070273 hereditary nonpolyposis colorectal cancer type 6 skos:exactMatch OMIM:614331 semapv:UnspecifiedMatching -DOID:0070274 hereditary nonpolyposis colorectal cancer type 2 oboInOwl:hasDbXref OMIM:609310 semapv:UnspecifiedMatching -DOID:0070274 hereditary nonpolyposis colorectal cancer type 2 skos:exactMatch OMIM:609310 semapv:UnspecifiedMatching -DOID:0070275 hereditary nonpolyposis colorectal cancer type 4 oboInOwl:hasDbXref OMIM:614337 semapv:UnspecifiedMatching -DOID:0070275 hereditary nonpolyposis colorectal cancer type 4 skos:exactMatch OMIM:614337 semapv:UnspecifiedMatching -DOID:0070276 hereditary nonpolyposis colorectal cancer type 7 oboInOwl:hasDbXref OMIM:614385 semapv:UnspecifiedMatching -DOID:0070276 hereditary nonpolyposis colorectal cancer type 7 skos:exactMatch OMIM:614385 semapv:UnspecifiedMatching -DOID:0070277 primary autosomal recessive microcephaly 15 oboInOwl:hasDbXref OMIM:616486 semapv:UnspecifiedMatching -DOID:0070277 primary autosomal recessive microcephaly 15 skos:exactMatch OMIM:616486 semapv:UnspecifiedMatching -DOID:0070278 primary autosomal recessive microcephaly 7 oboInOwl:hasDbXref OMIM:612703 semapv:UnspecifiedMatching -DOID:0070278 primary autosomal recessive microcephaly 7 skos:exactMatch OMIM:612703 semapv:UnspecifiedMatching -DOID:0070279 primary autosomal recessive microcephaly 14 oboInOwl:hasDbXref OMIM:616402 semapv:UnspecifiedMatching -DOID:0070279 primary autosomal recessive microcephaly 14 skos:exactMatch OMIM:616402 semapv:UnspecifiedMatching -DOID:0070280 primary autosomal recessive microcephaly 5 oboInOwl:hasDbXref OMIM:608716 semapv:UnspecifiedMatching -DOID:0070280 primary autosomal recessive microcephaly 5 skos:exactMatch OMIM:608716 semapv:UnspecifiedMatching -DOID:0070281 primary autosomal recessive microcephaly 19 oboInOwl:hasDbXref OMIM:617800 semapv:UnspecifiedMatching -DOID:0070281 primary autosomal recessive microcephaly 19 skos:exactMatch OMIM:617800 semapv:UnspecifiedMatching -DOID:0070282 primary autosomal recessive microcephaly 8 oboInOwl:hasDbXref OMIM:614673 semapv:UnspecifiedMatching -DOID:0070282 primary autosomal recessive microcephaly 8 skos:exactMatch OMIM:614673 semapv:UnspecifiedMatching -DOID:0070283 primary autosomal recessive microcephaly 13 oboInOwl:hasDbXref OMIM:616051 semapv:UnspecifiedMatching -DOID:0070283 primary autosomal recessive microcephaly 13 skos:exactMatch OMIM:616051 semapv:UnspecifiedMatching -DOID:0070284 primary autosomal recessive microcephaly 12 oboInOwl:hasDbXref OMIM:616080 semapv:UnspecifiedMatching -DOID:0070284 primary autosomal recessive microcephaly 12 skos:exactMatch OMIM:616080 semapv:UnspecifiedMatching -DOID:0070285 primary autosomal recessive microcephaly 1 oboInOwl:hasDbXref OMIM:251200 semapv:UnspecifiedMatching -DOID:0070285 primary autosomal recessive microcephaly 1 skos:exactMatch OMIM:251200 semapv:UnspecifiedMatching -DOID:0070286 primary autosomal recessive microcephaly 3 oboInOwl:hasDbXref OMIM:604804 semapv:UnspecifiedMatching -DOID:0070286 primary autosomal recessive microcephaly 3 skos:exactMatch OMIM:604804 semapv:UnspecifiedMatching -DOID:0070287 primary autosomal recessive microcephaly 11 oboInOwl:hasDbXref OMIM:615414 semapv:UnspecifiedMatching -DOID:0070287 primary autosomal recessive microcephaly 11 skos:exactMatch OMIM:615414 semapv:UnspecifiedMatching -DOID:0070288 primary autosomal recessive microcephaly 17 oboInOwl:hasDbXref OMIM:617090 semapv:UnspecifiedMatching -DOID:0070288 primary autosomal recessive microcephaly 17 skos:exactMatch OMIM:617090 semapv:UnspecifiedMatching -DOID:0070289 primary autosomal recessive microcephaly 16 oboInOwl:hasDbXref OMIM:616681 semapv:UnspecifiedMatching -DOID:0070289 primary autosomal recessive microcephaly 16 skos:exactMatch OMIM:616681 semapv:UnspecifiedMatching -DOID:0070290 primary autosomal recessive microcephaly 6 oboInOwl:hasDbXref OMIM:608393 semapv:UnspecifiedMatching -DOID:0070290 primary autosomal recessive microcephaly 6 skos:exactMatch OMIM:608393 semapv:UnspecifiedMatching -DOID:0070291 primary autosomal recessive microcephaly 4 oboInOwl:hasDbXref OMIM:604321 semapv:UnspecifiedMatching -DOID:0070291 primary autosomal recessive microcephaly 4 skos:exactMatch OMIM:604321 semapv:UnspecifiedMatching -DOID:0070292 primary autosomal recessive microcephaly 9 oboInOwl:hasDbXref OMIM:614852 semapv:UnspecifiedMatching -DOID:0070292 primary autosomal recessive microcephaly 9 skos:exactMatch OMIM:614852 semapv:UnspecifiedMatching -DOID:0070293 primary autosomal recessive microcephaly 2 with or without cortical malformations oboInOwl:hasDbXref OMIM:604317 semapv:UnspecifiedMatching -DOID:0070293 primary autosomal recessive microcephaly 2 with or without cortical malformations skos:exactMatch OMIM:604317 semapv:UnspecifiedMatching -DOID:0070294 primary autosomal recessive microcephaly 10 oboInOwl:hasDbXref OMIM:615095 semapv:UnspecifiedMatching -DOID:0070294 primary autosomal recessive microcephaly 10 skos:exactMatch OMIM:615095 semapv:UnspecifiedMatching -DOID:0070295 primary autosomal dominant microcephaly 18 oboInOwl:hasDbXref OMIM:617520 semapv:UnspecifiedMatching -DOID:0070295 primary autosomal dominant microcephaly 18 skos:exactMatch OMIM:617520 semapv:UnspecifiedMatching DOID:0070296 primary autosomal recessive microcephaly oboInOwl:hasDbXref GARD:12117 semapv:UnspecifiedMatching -DOID:0070296 primary autosomal recessive microcephaly oboInOwl:hasDbXref OMIMPS:251200 semapv:UnspecifiedMatching DOID:0070296 primary autosomal recessive microcephaly oboInOwl:hasDbXref ORDO:2512 semapv:UnspecifiedMatching -DOID:0070296 primary autosomal recessive microcephaly skos:exactMatch OMIMPS:251200 semapv:UnspecifiedMatching -DOID:0070298 multiple epiphyseal dysplasia 2 oboInOwl:hasDbXref OMIM:600204 semapv:UnspecifiedMatching -DOID:0070298 multiple epiphyseal dysplasia 2 skos:exactMatch OMIM:600204 semapv:UnspecifiedMatching DOID:0070299 multiple epiphyseal dysplasia 5 oboInOwl:hasDbXref GARD:9794 semapv:UnspecifiedMatching DOID:0070299 multiple epiphyseal dysplasia 5 oboInOwl:hasDbXref MESH:C535505 semapv:UnspecifiedMatching -DOID:0070299 multiple epiphyseal dysplasia 5 oboInOwl:hasDbXref OMIM:607078 semapv:UnspecifiedMatching DOID:0070299 multiple epiphyseal dysplasia 5 oboInOwl:hasDbXref ORDO:93311 semapv:UnspecifiedMatching DOID:0070299 multiple epiphyseal dysplasia 5 oboInOwl:hasDbXref UMLS:C1846843 semapv:UnspecifiedMatching -DOID:0070299 multiple epiphyseal dysplasia 5 skos:exactMatch OMIM:607078 semapv:UnspecifiedMatching DOID:0070300 multiple epiphyseal dysplasia 4 oboInOwl:hasDbXref GARD:9793 semapv:UnspecifiedMatching DOID:0070300 multiple epiphyseal dysplasia 4 oboInOwl:hasDbXref MESH:C535504 semapv:UnspecifiedMatching -DOID:0070300 multiple epiphyseal dysplasia 4 oboInOwl:hasDbXref OMIM:226900 semapv:UnspecifiedMatching DOID:0070300 multiple epiphyseal dysplasia 4 oboInOwl:hasDbXref ORDO:93307 semapv:UnspecifiedMatching DOID:0070300 multiple epiphyseal dysplasia 4 oboInOwl:hasDbXref UMLS:C1847593 semapv:UnspecifiedMatching -DOID:0070300 multiple epiphyseal dysplasia 4 skos:exactMatch OMIM:226900 semapv:UnspecifiedMatching -DOID:0070301 multiple epiphyseal dysplasia 6 oboInOwl:hasDbXref OMIM:614135 semapv:UnspecifiedMatching -DOID:0070301 multiple epiphyseal dysplasia 6 skos:exactMatch OMIM:614135 semapv:UnspecifiedMatching -DOID:0070302 multiple epiphyseal dysplasia 7 oboInOwl:hasDbXref OMIM:617719 semapv:UnspecifiedMatching -DOID:0070302 multiple epiphyseal dysplasia 7 skos:exactMatch OMIM:617719 semapv:UnspecifiedMatching DOID:0070303 multiple epiphyseal dysplasia 1 oboInOwl:hasDbXref GARD:2180 semapv:UnspecifiedMatching DOID:0070303 multiple epiphyseal dysplasia 1 oboInOwl:hasDbXref MESH:C535501 semapv:UnspecifiedMatching -DOID:0070303 multiple epiphyseal dysplasia 1 oboInOwl:hasDbXref OMIM:132400 semapv:UnspecifiedMatching DOID:0070303 multiple epiphyseal dysplasia 1 oboInOwl:hasDbXref ORDO:93308 semapv:UnspecifiedMatching DOID:0070303 multiple epiphyseal dysplasia 1 oboInOwl:hasDbXref UMLS:C1838280 semapv:UnspecifiedMatching -DOID:0070303 multiple epiphyseal dysplasia 1 skos:exactMatch OMIM:132400 semapv:UnspecifiedMatching -DOID:0070304 multiple epiphyseal dysplasia 3 oboInOwl:hasDbXref OMIM:600969 semapv:UnspecifiedMatching -DOID:0070304 multiple epiphyseal dysplasia 3 skos:exactMatch OMIM:600969 semapv:UnspecifiedMatching DOID:0070305 multiple epiphyseal dysplasia due to collagen 9 anomaly oboInOwl:hasDbXref ORDO:166002 semapv:UnspecifiedMatching DOID:0070306 post-cardiac arrest syndrome oboInOwl:hasDbXref MESH:D000080942 semapv:UnspecifiedMatching DOID:0070307 craniolenticulosutural dysplasia oboInOwl:hasDbXref MESH:C564332 semapv:UnspecifiedMatching -DOID:0070307 craniolenticulosutural dysplasia oboInOwl:hasDbXref OMIM:607812 semapv:UnspecifiedMatching DOID:0070307 craniolenticulosutural dysplasia oboInOwl:hasDbXref ORDO:50814 semapv:UnspecifiedMatching DOID:0070307 craniolenticulosutural dysplasia oboInOwl:hasDbXref UMLS:C1843042 semapv:UnspecifiedMatching -DOID:0070307 craniolenticulosutural dysplasia skos:exactMatch OMIM:607812 semapv:UnspecifiedMatching DOID:0070308 rippling muscle disease 1 oboInOwl:hasDbXref MESH:C535686 semapv:UnspecifiedMatching -DOID:0070308 rippling muscle disease 1 oboInOwl:hasDbXref OMIM:600332 semapv:UnspecifiedMatching -DOID:0070308 rippling muscle disease 1 skos:exactMatch OMIM:600332 semapv:UnspecifiedMatching DOID:0070309 absence epilepsy oboInOwl:hasDbXref MESH:D004832 semapv:UnspecifiedMatching DOID:0070313 thiamine deficiency disease oboInOwl:hasDbXref NCI:C34418 semapv:UnspecifiedMatching DOID:0070314 obstructive nephropathy oboInOwl:hasDbXref NCI:C120902 semapv:UnspecifiedMatching @@ -5584,9 +3120,7 @@ DOID:0070315 hypoplastic right heart syndrome oboInOwl:hasDbXref GARD:2922 semap DOID:0070315 hypoplastic right heart syndrome oboInOwl:hasDbXref ICD10CM:Q22.6 semapv:UnspecifiedMatching DOID:0070315 hypoplastic right heart syndrome oboInOwl:hasDbXref NCI:C99053 semapv:UnspecifiedMatching DOID:0070315 hypoplastic right heart syndrome oboInOwl:hasDbXref UMLS:C0344963 semapv:UnspecifiedMatching -DOID:0070316 Miura type epiphyseal chondrodysplasia oboInOwl:hasDbXref OMIM:615923 semapv:UnspecifiedMatching DOID:0070316 Miura type epiphyseal chondrodysplasia oboInOwl:hasDbXref ORDO:329191 semapv:UnspecifiedMatching -DOID:0070316 Miura type epiphyseal chondrodysplasia skos:exactMatch OMIM:615923 semapv:UnspecifiedMatching DOID:0070317 wet beriberi oboInOwl:hasDbXref GARD:9948 semapv:UnspecifiedMatching DOID:0070317 wet beriberi oboInOwl:hasDbXref ICD10CM:E51.12 semapv:UnspecifiedMatching DOID:0070318 dry beriberi oboInOwl:hasDbXref GARD:9948 semapv:UnspecifiedMatching @@ -5612,404 +3146,65 @@ DOID:0070328 adult hepatocellular carcinoma oboInOwl:hasDbXref NCI:C7956 semapv: DOID:0070328 adult hepatocellular carcinoma oboInOwl:hasDbXref ORDO:210159 semapv:UnspecifiedMatching DOID:0070328 adult hepatocellular carcinoma oboInOwl:hasDbXref UMLS:C0279607 semapv:UnspecifiedMatching DOID:0070329 mitochondrial DNA depletion syndrome oboInOwl:hasDbXref GARD:13643 semapv:UnspecifiedMatching -DOID:0070329 mitochondrial DNA depletion syndrome oboInOwl:hasDbXref OMIMPS:603041 semapv:UnspecifiedMatching DOID:0070329 mitochondrial DNA depletion syndrome oboInOwl:hasDbXref ORDO:35698 semapv:UnspecifiedMatching -DOID:0070329 mitochondrial DNA depletion syndrome skos:exactMatch OMIMPS:603041 semapv:UnspecifiedMatching DOID:0070330 multiple mitochondrial dysfunctions syndrome oboInOwl:hasDbXref GARD:12632 semapv:UnspecifiedMatching DOID:0070330 multiple mitochondrial dysfunctions syndrome oboInOwl:hasDbXref MESH:C565304 semapv:UnspecifiedMatching -DOID:0070330 multiple mitochondrial dysfunctions syndrome oboInOwl:hasDbXref OMIMPS:605711 semapv:UnspecifiedMatching DOID:0070330 multiple mitochondrial dysfunctions syndrome oboInOwl:hasDbXref ORDO:289573 semapv:UnspecifiedMatching -DOID:0070330 multiple mitochondrial dysfunctions syndrome skos:exactMatch OMIMPS:605711 semapv:UnspecifiedMatching DOID:0070331 mitochondrial DNA depletion syndrome 8b oboInOwl:hasDbXref MESH:C536350 semapv:UnspecifiedMatching -DOID:0070331 mitochondrial DNA depletion syndrome 8b oboInOwl:hasDbXref OMIM:612075 semapv:UnspecifiedMatching -DOID:0070331 mitochondrial DNA depletion syndrome 8b skos:exactMatch OMIM:612075 semapv:UnspecifiedMatching -DOID:0070332 multiple mitochondrial dysfunctions syndrome 6 oboInOwl:hasDbXref OMIM:617954 semapv:UnspecifiedMatching -DOID:0070332 multiple mitochondrial dysfunctions syndrome 6 skos:exactMatch OMIM:617954 semapv:UnspecifiedMatching -DOID:0070336 arthrogryposis multiplex congenita-6 oboInOwl:hasDbXref OMIM:619334 semapv:UnspecifiedMatching -DOID:0070336 arthrogryposis multiplex congenita-6 skos:exactMatch OMIM:619334 semapv:UnspecifiedMatching DOID:0070337 epithelial recurrent erosion dystrophy oboInOwl:hasDbXref MESH:C565155 semapv:UnspecifiedMatching -DOID:0070337 epithelial recurrent erosion dystrophy oboInOwl:hasDbXref OMIM:122400 semapv:UnspecifiedMatching -DOID:0070337 epithelial recurrent erosion dystrophy skos:exactMatch OMIM:122400 semapv:UnspecifiedMatching DOID:0070338 cerebellar hypoplasia oboInOwl:hasDbXref GARD:1194 semapv:UnspecifiedMatching DOID:0070338 cerebellar hypoplasia oboInOwl:hasDbXref MESH:C562568 semapv:UnspecifiedMatching DOID:0070338 cerebellar hypoplasia skos:exactMatch MESH:C562568 semapv:UnspecifiedMatching -DOID:0070339 cerebellar hyplasia/atrophy, epilepsy, and global developmental delay oboInOwl:hasDbXref OMIM:213000 semapv:UnspecifiedMatching DOID:0070339 cerebellar hyplasia/atrophy, epilepsy, and global developmental delay oboInOwl:hasDbXref ORDO:2246 semapv:UnspecifiedMatching -DOID:0070339 cerebellar hyplasia/atrophy, epilepsy, and global developmental delay skos:exactMatch OMIM:213000 semapv:UnspecifiedMatching -DOID:0070340 classic citrullinemia oboInOwl:hasDbXref OMIM:215700 semapv:UnspecifiedMatching -DOID:0070340 classic citrullinemia skos:exactMatch OMIM:215700 semapv:UnspecifiedMatching -DOID:0070341 neonatal-onset type II citrullinemia oboInOwl:hasDbXref OMIM:605814 semapv:UnspecifiedMatching -DOID:0070341 neonatal-onset type II citrullinemia skos:exactMatch OMIM:605814 semapv:UnspecifiedMatching -DOID:0070342 adult-onset type II citrullinemia oboInOwl:hasDbXref OMIM:603471 semapv:UnspecifiedMatching -DOID:0070342 adult-onset type II citrullinemia skos:exactMatch OMIM:603471 semapv:UnspecifiedMatching -DOID:0070343 CSF1R-related brain malformation and osteopetrosis oboInOwl:hasDbXref OMIM:600329 semapv:UnspecifiedMatching -DOID:0070343 CSF1R-related brain malformation and osteopetrosis skos:exactMatch OMIM:600329 semapv:UnspecifiedMatching -DOID:0070345 vertebral anomalies and variable endocrine and T-cell dysfunction oboInOwl:hasDbXref OMIM:618223 semapv:UnspecifiedMatching -DOID:0070345 vertebral anomalies and variable endocrine and T-cell dysfunction skos:exactMatch OMIM:618223 semapv:UnspecifiedMatching -DOID:0070346 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies oboInOwl:hasDbXref OMIM:618571 semapv:UnspecifiedMatching -DOID:0070346 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies skos:exactMatch OMIM:618571 semapv:UnspecifiedMatching -DOID:0070347 encephalopathy due to defective mitochondrial and peroxisomal fission 1 oboInOwl:hasDbXref OMIM:614388 semapv:UnspecifiedMatching -DOID:0070347 encephalopathy due to defective mitochondrial and peroxisomal fission 1 skos:exactMatch OMIM:614388 semapv:UnspecifiedMatching -DOID:0070348 spinal muscular atrophy with lower extremity predominant oboInOwl:hasDbXref OMIMPS:158600 semapv:UnspecifiedMatching -DOID:0070348 spinal muscular atrophy with lower extremity predominant skos:exactMatch OMIMPS:158600 semapv:UnspecifiedMatching -DOID:0070349 spinal muscular atrophy with lower extremity predominant 2A oboInOwl:hasDbXref OMIM:615290 semapv:UnspecifiedMatching -DOID:0070349 spinal muscular atrophy with lower extremity predominant 2A skos:exactMatch OMIM:615290 semapv:UnspecifiedMatching -DOID:0070350 spinal muscular atrophy with lower extremity predominant 2B oboInOwl:hasDbXref OMIM:618291 semapv:UnspecifiedMatching -DOID:0070350 spinal muscular atrophy with lower extremity predominant 2B skos:exactMatch OMIM:618291 semapv:UnspecifiedMatching -DOID:0070351 spinal muscular atrophy with lower extremity predominant 1 oboInOwl:hasDbXref OMIM:158600 semapv:UnspecifiedMatching -DOID:0070351 spinal muscular atrophy with lower extremity predominant 1 skos:exactMatch OMIM:158600 semapv:UnspecifiedMatching -DOID:0070352 stress-induced childhood-onset neurodegeneration with variable ataxia and seizures oboInOwl:hasDbXref OMIM:618170 semapv:UnspecifiedMatching -DOID:0070352 stress-induced childhood-onset neurodegeneration with variable ataxia and seizures skos:exactMatch OMIM:618170 semapv:UnspecifiedMatching -DOID:0070353 cataract 47 oboInOwl:hasDbXref OMIM:612018 semapv:UnspecifiedMatching -DOID:0070353 cataract 47 skos:exactMatch OMIM:612018 semapv:UnspecifiedMatching -DOID:0070354 cataract 48 oboInOwl:hasDbXref OMIM:618415 semapv:UnspecifiedMatching -DOID:0070354 cataract 48 skos:exactMatch OMIM:618415 semapv:UnspecifiedMatching DOID:0070355 overactive bladder syndrome oboInOwl:hasDbXref ICD10CM:N32.81 semapv:UnspecifiedMatching DOID:0070355 overactive bladder syndrome oboInOwl:hasDbXref ICD9CM:596.51 semapv:UnspecifiedMatching DOID:0070355 overactive bladder syndrome oboInOwl:hasDbXref MESH:D053201 semapv:UnspecifiedMatching DOID:0070355 overactive bladder syndrome oboInOwl:hasDbXref UMLS:C0878773 semapv:UnspecifiedMatching DOID:0070356 visual impairment and progressive phthisis bulbi oboInOwl:hasDbXref MESH:D005128 semapv:UnspecifiedMatching -DOID:0070356 visual impairment and progressive phthisis bulbi oboInOwl:hasDbXref OMIM:618283 semapv:UnspecifiedMatching -DOID:0070356 visual impairment and progressive phthisis bulbi skos:exactMatch OMIM:618283 semapv:UnspecifiedMatching -DOID:0070357 nephrotic syndrome type 20 oboInOwl:hasDbXref OMIM:301028 semapv:UnspecifiedMatching -DOID:0070357 nephrotic syndrome type 20 skos:exactMatch OMIM:301028 semapv:UnspecifiedMatching -DOID:0070358 primary biliary cholangitis 1 oboInOwl:hasDbXref OMIM:109720 semapv:UnspecifiedMatching -DOID:0070358 primary biliary cholangitis 1 skos:exactMatch OMIM:109720 semapv:UnspecifiedMatching -DOID:0070359 primary biliary cholangitis 2 oboInOwl:hasDbXref OMIM:613007 semapv:UnspecifiedMatching -DOID:0070359 primary biliary cholangitis 2 skos:exactMatch OMIM:613007 semapv:UnspecifiedMatching -DOID:0070360 primary biliary cholangitis 3 oboInOwl:hasDbXref OMIM:613008 semapv:UnspecifiedMatching -DOID:0070360 primary biliary cholangitis 3 skos:exactMatch OMIM:613008 semapv:UnspecifiedMatching -DOID:0070361 primary biliary cholangitis 4 oboInOwl:hasDbXref OMIM:614220 semapv:UnspecifiedMatching -DOID:0070361 primary biliary cholangitis 4 skos:exactMatch OMIM:614220 semapv:UnspecifiedMatching -DOID:0070362 primary biliary cholangitis 5 oboInOwl:hasDbXref OMIM:614221 semapv:UnspecifiedMatching -DOID:0070362 primary biliary cholangitis 5 skos:exactMatch OMIM:614221 semapv:UnspecifiedMatching -DOID:0070363 bradyopsia 1 oboInOwl:hasDbXref OMIM:608415 semapv:UnspecifiedMatching -DOID:0070363 bradyopsia 1 skos:exactMatch OMIM:608415 semapv:UnspecifiedMatching -DOID:0070363 bradyopsia 1 skos:exactMatch OMIM:608415 semapv:UnspecifiedMatching -DOID:0070364 bradyopsia 2 oboInOwl:hasDbXref OMIM:620344 semapv:UnspecifiedMatching -DOID:0070364 bradyopsia 2 skos:exactMatch OMIM:620344 semapv:UnspecifiedMatching -DOID:0070364 bradyopsia 2 skos:exactMatch OMIM:620344 semapv:UnspecifiedMatching -DOID:0070365 nevoid basal cell carcinoma syndrome 1 oboInOwl:hasDbXref OMIM:109400 semapv:UnspecifiedMatching -DOID:0070365 nevoid basal cell carcinoma syndrome 1 skos:exactMatch OMIM:109400 semapv:UnspecifiedMatching -DOID:0070365 nevoid basal cell carcinoma syndrome 1 skos:exactMatch OMIM:109400 semapv:UnspecifiedMatching -DOID:0070366 nevoid basal cell carcinoma syndrome 2 oboInOwl:hasDbXref OMIM:620343 semapv:UnspecifiedMatching -DOID:0070366 nevoid basal cell carcinoma syndrome 2 skos:exactMatch OMIM:620343 semapv:UnspecifiedMatching -DOID:0070366 nevoid basal cell carcinoma syndrome 2 skos:exactMatch OMIM:620343 semapv:UnspecifiedMatching -DOID:0070367 leukoencephalopathy with vanishing white matter 5 oboInOwl:hasDbXref OMIM:620315 semapv:UnspecifiedMatching DOID:0070367 leukoencephalopathy with vanishing white matter 5 oboInOwl:hasDbXref ORDO:99854 semapv:UnspecifiedMatching -DOID:0070367 leukoencephalopathy with vanishing white matter 5 skos:exactMatch OMIM:620315 semapv:UnspecifiedMatching -DOID:0070367 leukoencephalopathy with vanishing white matter 5 skos:exactMatch OMIM:620315 semapv:UnspecifiedMatching DOID:0070367 leukoencephalopathy with vanishing white matter 5 skos:exactMatch ORDO:99854 semapv:UnspecifiedMatching -DOID:0070368 autosomal recessive chronic granulomatous disease 5 oboInOwl:hasDbXref OMIM:618935 semapv:UnspecifiedMatching -DOID:0070368 autosomal recessive chronic granulomatous disease 5 skos:exactMatch OMIM:618935 semapv:UnspecifiedMatching -DOID:0070369 restrictive dermopathy 1 oboInOwl:hasDbXref OMIM:275210 semapv:UnspecifiedMatching -DOID:0070369 restrictive dermopathy 1 skos:exactMatch OMIM:275210 semapv:UnspecifiedMatching -DOID:0070369 restrictive dermopathy 1 skos:exactMatch OMIM:275210 semapv:UnspecifiedMatching -DOID:0070370 restrictive dermopathy 2 oboInOwl:hasDbXref OMIM:619793 semapv:UnspecifiedMatching -DOID:0070370 restrictive dermopathy 2 skos:exactMatch OMIM:619793 semapv:UnspecifiedMatching -DOID:0070370 restrictive dermopathy 2 skos:exactMatch OMIM:619793 semapv:UnspecifiedMatching -DOID:0070371 leukoencephalopathy with vanishing white matter 4 oboInOwl:hasDbXref OMIM:620314 semapv:UnspecifiedMatching -DOID:0070371 leukoencephalopathy with vanishing white matter 4 skos:exactMatch OMIM:620314 semapv:UnspecifiedMatching -DOID:0070371 leukoencephalopathy with vanishing white matter 4 skos:exactMatch OMIM:620314 semapv:UnspecifiedMatching -DOID:0070372 leukoencephalopathy with vanishing white matter 3 oboInOwl:hasDbXref OMIM:620313 semapv:UnspecifiedMatching -DOID:0070372 leukoencephalopathy with vanishing white matter 3 skos:exactMatch OMIM:620313 semapv:UnspecifiedMatching -DOID:0070372 leukoencephalopathy with vanishing white matter 3 skos:exactMatch OMIM:620313 semapv:UnspecifiedMatching -DOID:0070373 leukoencephalopathy with vanishing white matter 2 oboInOwl:hasDbXref OMIM:620312 semapv:UnspecifiedMatching -DOID:0070373 leukoencephalopathy with vanishing white matter 2 skos:exactMatch OMIM:620312 semapv:UnspecifiedMatching -DOID:0070373 leukoencephalopathy with vanishing white matter 2 skos:exactMatch OMIM:620312 semapv:UnspecifiedMatching -DOID:0070374 leukoencephalopathy with vanishing white matter 1 oboInOwl:hasDbXref OMIM:603896 semapv:UnspecifiedMatching -DOID:0070374 leukoencephalopathy with vanishing white matter 1 skos:exactMatch OMIM:603896 semapv:UnspecifiedMatching -DOID:0070374 leukoencephalopathy with vanishing white matter 1 skos:exactMatch OMIM:603896 semapv:UnspecifiedMatching -DOID:0070375 developmental and epileptic encephalopathy 64 oboInOwl:hasDbXref OMIM:618004 semapv:UnspecifiedMatching -DOID:0070375 developmental and epileptic encephalopathy 64 skos:exactMatch OMIM:618004 semapv:UnspecifiedMatching -DOID:0070376 developmental and epileptic encephalopathy 31B oboInOwl:hasDbXref OMIM:620352 semapv:UnspecifiedMatching -DOID:0070376 developmental and epileptic encephalopathy 31B skos:exactMatch OMIM:620352 semapv:UnspecifiedMatching -DOID:0070377 developmental and epileptic encephalopathy 96 oboInOwl:hasDbXref OMIM:619340 semapv:UnspecifiedMatching -DOID:0070377 developmental and epileptic encephalopathy 96 skos:exactMatch OMIM:619340 semapv:UnspecifiedMatching -DOID:0070378 developmental and epileptic encephalopathy 109 oboInOwl:hasDbXref OMIM:620145 semapv:UnspecifiedMatching -DOID:0070378 developmental and epileptic encephalopathy 109 skos:exactMatch OMIM:620145 semapv:UnspecifiedMatching -DOID:0070379 developmental and epileptic encephalopathy 6B oboInOwl:hasDbXref OMIM:619317 semapv:UnspecifiedMatching -DOID:0070379 developmental and epileptic encephalopathy 6B skos:exactMatch OMIM:619317 semapv:UnspecifiedMatching -DOID:0070380 developmental and epileptic encephalopathy 85 oboInOwl:hasDbXref OMIM:301044 semapv:UnspecifiedMatching -DOID:0070380 developmental and epileptic encephalopathy 85 skos:exactMatch OMIM:301044 semapv:UnspecifiedMatching -DOID:0070381 developmental and epileptic encephalopathy 90 oboInOwl:hasDbXref OMIM:301058 semapv:UnspecifiedMatching -DOID:0070381 developmental and epileptic encephalopathy 90 skos:exactMatch OMIM:301058 semapv:UnspecifiedMatching -DOID:0070382 developmental and epileptic encephalopathy 95 oboInOwl:hasDbXref OMIM:618143 semapv:UnspecifiedMatching -DOID:0070382 developmental and epileptic encephalopathy 95 skos:exactMatch OMIM:618143 semapv:UnspecifiedMatching -DOID:0070383 developmental and epileptic encephalopathy 97 oboInOwl:hasDbXref OMIM:619561 semapv:UnspecifiedMatching -DOID:0070383 developmental and epileptic encephalopathy 97 skos:exactMatch OMIM:619561 semapv:UnspecifiedMatching -DOID:0070384 developmental and epileptic encephalopathy 98 oboInOwl:hasDbXref OMIM:619605 semapv:UnspecifiedMatching -DOID:0070384 developmental and epileptic encephalopathy 98 skos:exactMatch OMIM:619605 semapv:UnspecifiedMatching -DOID:0070385 developmental and epileptic encephalopathy 99 oboInOwl:hasDbXref OMIM:619606 semapv:UnspecifiedMatching -DOID:0070385 developmental and epileptic encephalopathy 99 skos:exactMatch OMIM:619606 semapv:UnspecifiedMatching -DOID:0070386 developmental and epileptic encephalopathy 100 oboInOwl:hasDbXref OMIM:619777 semapv:UnspecifiedMatching -DOID:0070386 developmental and epileptic encephalopathy 100 skos:exactMatch OMIM:619777 semapv:UnspecifiedMatching -DOID:0070387 developmental and epileptic encephalopathy 101 oboInOwl:hasDbXref OMIM:619814 semapv:UnspecifiedMatching -DOID:0070387 developmental and epileptic encephalopathy 101 skos:exactMatch OMIM:619814 semapv:UnspecifiedMatching -DOID:0070388 developmental and epileptic encephalopathy 102 oboInOwl:hasDbXref OMIM:619881 semapv:UnspecifiedMatching -DOID:0070388 developmental and epileptic encephalopathy 102 skos:exactMatch OMIM:619881 semapv:UnspecifiedMatching -DOID:0070389 developmental and epileptic encephalopathy 103 oboInOwl:hasDbXref OMIM:619913 semapv:UnspecifiedMatching -DOID:0070389 developmental and epileptic encephalopathy 103 skos:exactMatch OMIM:619913 semapv:UnspecifiedMatching -DOID:0070390 developmental and epileptic encephalopathy 104 oboInOwl:hasDbXref OMIM:619970 semapv:UnspecifiedMatching -DOID:0070390 developmental and epileptic encephalopathy 104 skos:exactMatch OMIM:619970 semapv:UnspecifiedMatching -DOID:0070391 developmental and epileptic encephalopathy 105 oboInOwl:hasDbXref OMIM:619983 semapv:UnspecifiedMatching -DOID:0070391 developmental and epileptic encephalopathy 105 skos:exactMatch OMIM:619983 semapv:UnspecifiedMatching -DOID:0070392 developmental and epileptic encephalopathy 106 oboInOwl:hasDbXref OMIM:620028 semapv:UnspecifiedMatching -DOID:0070392 developmental and epileptic encephalopathy 106 skos:exactMatch OMIM:620028 semapv:UnspecifiedMatching -DOID:0070393 developmental and epileptic encephalopathy 107 oboInOwl:hasDbXref OMIM:620033 semapv:UnspecifiedMatching -DOID:0070393 developmental and epileptic encephalopathy 107 skos:exactMatch OMIM:620033 semapv:UnspecifiedMatching -DOID:0070394 developmental and epileptic encephalopathy 108 oboInOwl:hasDbXref OMIM:620115 semapv:UnspecifiedMatching -DOID:0070394 developmental and epileptic encephalopathy 108 skos:exactMatch OMIM:620115 semapv:UnspecifiedMatching -DOID:0070395 developmental and epileptic encephalopathy 110 oboInOwl:hasDbXref OMIM:620149 semapv:UnspecifiedMatching -DOID:0070395 developmental and epileptic encephalopathy 110 skos:exactMatch OMIM:620149 semapv:UnspecifiedMatching -DOID:0070396 progressive leukoencephalopathy with ovarian failure oboInOwl:hasDbXref OMIM:615889 semapv:UnspecifiedMatching -DOID:0070396 progressive leukoencephalopathy with ovarian failure skos:exactMatch OMIM:615889 semapv:UnspecifiedMatching -DOID:0070396 progressive leukoencephalopathy with ovarian failure skos:exactMatch OMIM:615889 semapv:UnspecifiedMatching DOID:0070396 progressive leukoencephalopathy with ovarian failure skos:relatedMatch ORDO:99853 semapv:UnspecifiedMatching -DOID:0070397 hypomyelinating leukodystrophy 23 oboInOwl:hasDbXref OMIM:619688 semapv:UnspecifiedMatching -DOID:0070397 hypomyelinating leukodystrophy 23 skos:exactMatch OMIM:619688 semapv:UnspecifiedMatching -DOID:0070398 hypomyelinating leukodystrophy 15 oboInOwl:hasDbXref OMIM:617951 semapv:UnspecifiedMatching -DOID:0070398 hypomyelinating leukodystrophy 15 skos:exactMatch OMIM:617951 semapv:UnspecifiedMatching -DOID:0070399 hypomyelinating leukodystrophy 18 oboInOwl:hasDbXref OMIM:618404 semapv:UnspecifiedMatching -DOID:0070399 hypomyelinating leukodystrophy 18 skos:exactMatch OMIM:618404 semapv:UnspecifiedMatching -DOID:0070400 hypomyelinating leukodystrophy 19 oboInOwl:hasDbXref OMIM:618688 semapv:UnspecifiedMatching -DOID:0070400 hypomyelinating leukodystrophy 19 skos:exactMatch OMIM:618688 semapv:UnspecifiedMatching -DOID:0070401 hypomyelinating leukodystrophy 25 oboInOwl:hasDbXref OMIM:620243 semapv:UnspecifiedMatching -DOID:0070401 hypomyelinating leukodystrophy 25 skos:exactMatch OMIM:620243 semapv:UnspecifiedMatching -DOID:0070402 hypomyelinating leukodystrophy 22 oboInOwl:hasDbXref OMIM:619328 semapv:UnspecifiedMatching -DOID:0070402 hypomyelinating leukodystrophy 22 skos:exactMatch OMIM:619328 semapv:UnspecifiedMatching -DOID:0070403 hypomyelinating leukodystrophy 26 oboInOwl:hasDbXref OMIM:620269 semapv:UnspecifiedMatching -DOID:0070403 hypomyelinating leukodystrophy 26 skos:exactMatch OMIM:620269 semapv:UnspecifiedMatching -DOID:0070404 hypomyelinating leukodystrophy 17 oboInOwl:hasDbXref OMIM:618006 semapv:UnspecifiedMatching -DOID:0070404 hypomyelinating leukodystrophy 17 skos:exactMatch OMIM:618006 semapv:UnspecifiedMatching -DOID:0070405 hypomyelinating leukodystrophy 16 oboInOwl:hasDbXref OMIM:617964 semapv:UnspecifiedMatching -DOID:0070405 hypomyelinating leukodystrophy 16 skos:exactMatch OMIM:617964 semapv:UnspecifiedMatching -DOID:0070406 hypomyelinating leukodystrophy 24 oboInOwl:hasDbXref OMIM:619851 semapv:UnspecifiedMatching -DOID:0070406 hypomyelinating leukodystrophy 24 skos:exactMatch OMIM:619851 semapv:UnspecifiedMatching -DOID:0070407 hypomyelinating leukodystrophy 21 oboInOwl:hasDbXref OMIM:619310 semapv:UnspecifiedMatching -DOID:0070407 hypomyelinating leukodystrophy 21 skos:exactMatch OMIM:619310 semapv:UnspecifiedMatching -DOID:0070408 Hengel-Maroofian-Schols syndrome oboInOwl:hasDbXref OMIM:619641 semapv:UnspecifiedMatching -DOID:0070408 Hengel-Maroofian-Schols syndrome skos:exactMatch OMIM:619641 semapv:UnspecifiedMatching -DOID:0070408 Hengel-Maroofian-Schols syndrome skos:exactMatch OMIM:619641 semapv:UnspecifiedMatching -DOID:0070409 autosomal recessive spinocerebellar ataxia 28 oboInOwl:hasDbXref OMIM:618800 semapv:UnspecifiedMatching -DOID:0070409 autosomal recessive spinocerebellar ataxia 28 skos:exactMatch OMIM:618800 semapv:UnspecifiedMatching -DOID:0070410 autosomal recessive spinocerebellar ataxia 29 oboInOwl:hasDbXref OMIM:619389 semapv:UnspecifiedMatching -DOID:0070410 autosomal recessive spinocerebellar ataxia 29 skos:exactMatch OMIM:619389 semapv:UnspecifiedMatching -DOID:0070411 autosomal recessive spinocerebellar ataxia 30 oboInOwl:hasDbXref OMIM:619405 semapv:UnspecifiedMatching -DOID:0070411 autosomal recessive spinocerebellar ataxia 30 skos:exactMatch OMIM:619405 semapv:UnspecifiedMatching -DOID:0070412 autosomal recessive spinocerebellar ataxia 31 oboInOwl:hasDbXref OMIM:619422 semapv:UnspecifiedMatching -DOID:0070412 autosomal recessive spinocerebellar ataxia 31 skos:exactMatch OMIM:619422 semapv:UnspecifiedMatching -DOID:0070413 autosomal recessive spinocerebellar ataxia 32 oboInOwl:hasDbXref OMIM:619862 semapv:UnspecifiedMatching -DOID:0070413 autosomal recessive spinocerebellar ataxia 32 skos:exactMatch OMIM:619862 semapv:UnspecifiedMatching -DOID:0070414 autosomal recessive spinocerebellar ataxia 33 oboInOwl:hasDbXref OMIM:620208 semapv:UnspecifiedMatching -DOID:0070414 autosomal recessive spinocerebellar ataxia 33 skos:exactMatch OMIM:620208 semapv:UnspecifiedMatching -DOID:0070415 brachycephaly, trichomegaly, and developmental delay oboInOwl:hasDbXref OMIM:617412 semapv:UnspecifiedMatching -DOID:0070415 brachycephaly, trichomegaly, and developmental delay skos:exactMatch OMIM:617412 semapv:UnspecifiedMatching -DOID:0070416 Luo-Schoch-Yamamoto syndrome oboInOwl:hasDbXref OMIM:619460 semapv:UnspecifiedMatching -DOID:0070416 Luo-Schoch-Yamamoto syndrome skos:exactMatch OMIM:619460 semapv:UnspecifiedMatching -DOID:0070417 neurodevelopmental disorder with speech impairment and dysmorphic facies oboInOwl:hasDbXref OMIM:619056 semapv:UnspecifiedMatching -DOID:0070417 neurodevelopmental disorder with speech impairment and dysmorphic facies skos:exactMatch OMIM:619056 semapv:UnspecifiedMatching -DOID:0070418 vertebral hypersegmentation and orofacial anomalies oboInOwl:hasDbXref OMIM:619122 semapv:UnspecifiedMatching -DOID:0070418 vertebral hypersegmentation and orofacial anomalies skos:exactMatch OMIM:619122 semapv:UnspecifiedMatching DOID:0070419 acrocardiofacial syndrome oboInOwl:hasDbXref GARD:1167 semapv:UnspecifiedMatching DOID:0070419 acrocardiofacial syndrome oboInOwl:hasDbXref MESH:C563936 semapv:UnspecifiedMatching -DOID:0070419 acrocardiofacial syndrome oboInOwl:hasDbXref OMIM:600460 semapv:UnspecifiedMatching DOID:0070419 acrocardiofacial syndrome oboInOwl:hasDbXref ORDO:2008 semapv:UnspecifiedMatching -DOID:0070419 acrocardiofacial syndrome skos:exactMatch OMIM:600460 semapv:UnspecifiedMatching -DOID:0070420 developmental delay, hypotonia, and impaired language oboInOwl:hasDbXref OMIM:620012 semapv:UnspecifiedMatching -DOID:0070420 developmental delay, hypotonia, and impaired language skos:exactMatch OMIM:620012 semapv:UnspecifiedMatching -DOID:0070421 neurodevelopmental disorder with spasticity and poor growth oboInOwl:hasDbXref OMIM:618076 semapv:UnspecifiedMatching -DOID:0070421 neurodevelopmental disorder with spasticity and poor growth skos:exactMatch OMIM:618076 semapv:UnspecifiedMatching -DOID:0070422 syndromic X-linked intellectual disability Pilorge type oboInOwl:hasDbXref OMIM:301076 semapv:UnspecifiedMatching -DOID:0070422 syndromic X-linked intellectual disability Pilorge type skos:exactMatch OMIM:301076 semapv:UnspecifiedMatching -DOID:0070423 early onset progressive encephalopathy with brain atrophy and thin corpus callosum oboInOwl:hasDbXref OMIM:617193 semapv:UnspecifiedMatching DOID:0070423 early onset progressive encephalopathy with brain atrophy and thin corpus callosum oboInOwl:hasDbXref ORDO:496641 semapv:UnspecifiedMatching -DOID:0070423 early onset progressive encephalopathy with brain atrophy and thin corpus callosum skos:exactMatch OMIM:617193 semapv:UnspecifiedMatching -DOID:0070424 combined oxidative phosphorylation deficiency 44 oboInOwl:hasDbXref OMIM:618855 semapv:UnspecifiedMatching DOID:0070424 combined oxidative phosphorylation deficiency 44 oboInOwl:hasDbXref ORDO:166105 semapv:UnspecifiedMatching -DOID:0070424 combined oxidative phosphorylation deficiency 44 skos:exactMatch OMIM:618855 semapv:UnspecifiedMatching -DOID:0070424 combined oxidative phosphorylation deficiency 44 skos:exactMatch OMIM:618855 semapv:UnspecifiedMatching DOID:0070424 combined oxidative phosphorylation deficiency 44 skos:exactMatch ORDO:166105 semapv:UnspecifiedMatching -DOID:0070425 combined oxidative phosphorylation deficiency 52 oboInOwl:hasDbXref OMIM:619386 semapv:UnspecifiedMatching -DOID:0070425 combined oxidative phosphorylation deficiency 52 skos:exactMatch OMIM:619386 semapv:UnspecifiedMatching -DOID:0070425 combined oxidative phosphorylation deficiency 52 skos:exactMatch OMIM:619386 semapv:UnspecifiedMatching -DOID:0070426 combined oxidative phosphorylation deficiency 53 oboInOwl:hasDbXref OMIM:619423 semapv:UnspecifiedMatching -DOID:0070426 combined oxidative phosphorylation deficiency 53 skos:exactMatch OMIM:619423 semapv:UnspecifiedMatching -DOID:0070426 combined oxidative phosphorylation deficiency 53 skos:exactMatch OMIM:619423 semapv:UnspecifiedMatching -DOID:0070427 combined oxidative phosphorylation deficiency 54 oboInOwl:hasDbXref OMIM:619737 semapv:UnspecifiedMatching -DOID:0070427 combined oxidative phosphorylation deficiency 54 skos:exactMatch OMIM:619737 semapv:UnspecifiedMatching -DOID:0070427 combined oxidative phosphorylation deficiency 54 skos:exactMatch OMIM:619737 semapv:UnspecifiedMatching -DOID:0070428 combined oxidative phosphorylation deficiency 55 oboInOwl:hasDbXref OMIM:619743 semapv:UnspecifiedMatching -DOID:0070428 combined oxidative phosphorylation deficiency 55 skos:exactMatch OMIM:619743 semapv:UnspecifiedMatching -DOID:0070428 combined oxidative phosphorylation deficiency 55 skos:exactMatch OMIM:619743 semapv:UnspecifiedMatching -DOID:0070429 combined oxidative phosphorylation deficiency 56 oboInOwl:hasDbXref OMIM:620139 semapv:UnspecifiedMatching -DOID:0070429 combined oxidative phosphorylation deficiency 56 skos:exactMatch OMIM:620139 semapv:UnspecifiedMatching -DOID:0070429 combined oxidative phosphorylation deficiency 56 skos:exactMatch OMIM:620139 semapv:UnspecifiedMatching -DOID:0070430 combined oxidative phosphorylation deficiency 57 oboInOwl:hasDbXref OMIM:620167 semapv:UnspecifiedMatching -DOID:0070430 combined oxidative phosphorylation deficiency 57 skos:exactMatch OMIM:620167 semapv:UnspecifiedMatching -DOID:0070430 combined oxidative phosphorylation deficiency 57 skos:exactMatch OMIM:620167 semapv:UnspecifiedMatching DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome oboInOwl:hasDbXref MESH:C565495 semapv:UnspecifiedMatching -DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome oboInOwl:hasDbXref OMIMPS:239300 semapv:UnspecifiedMatching DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome oboInOwl:hasDbXref ORDO:247262 semapv:UnspecifiedMatching DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome oboInOwl:hasDbXref UMLS:C1855923 semapv:UnspecifiedMatching -DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome skos:exactMatch OMIM:PS239300 semapv:UnspecifiedMatching -DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome skos:exactMatch OMIMPS:239300 semapv:UnspecifiedMatching DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome skos:exactMatch ORDO:247262 semapv:UnspecifiedMatching DOID:0070431 hyperphosphatasia with impaired intellectual development syndrome skos:exactMatch UMLS:C1855923 semapv:UnspecifiedMatching -DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 oboInOwl:hasDbXref OMIM:616025 semapv:UnspecifiedMatching -DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 skos:exactMatch OMIM:616025 semapv:UnspecifiedMatching -DOID:0070432 hyperphosphatasia with impaired intellectual development syndrome 5 skos:exactMatch OMIM:616025 semapv:UnspecifiedMatching -DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1 oboInOwl:hasDbXref OMIM:239300 semapv:UnspecifiedMatching DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1 oboInOwl:hasDbXref UMLS:C4551502 semapv:UnspecifiedMatching -DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1 skos:exactMatch OMIM:239300 semapv:UnspecifiedMatching -DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1 skos:exactMatch OMIM:239300 semapv:UnspecifiedMatching DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1 skos:exactMatch UMLS:C4551502 semapv:UnspecifiedMatching -DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 oboInOwl:hasDbXref OMIM:614749 semapv:UnspecifiedMatching -DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 skos:exactMatch OMIM:614749 semapv:UnspecifiedMatching -DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 skos:exactMatch OMIM:614749 semapv:UnspecifiedMatching -DOID:0070435 hyperphosphatasia with impaired intellectual development syndrome 3 oboInOwl:hasDbXref OMIM:614207 semapv:UnspecifiedMatching -DOID:0070435 hyperphosphatasia with impaired intellectual development syndrome 3 skos:exactMatch OMIM:614207 semapv:UnspecifiedMatching -DOID:0070435 hyperphosphatasia with impaired intellectual development syndrome 3 skos:exactMatch OMIM:614207 semapv:UnspecifiedMatching -DOID:0070436 hyperphosphatasia with impaired intellectual development syndrome 4 oboInOwl:hasDbXref OMIM:615716 semapv:UnspecifiedMatching -DOID:0070436 hyperphosphatasia with impaired intellectual development syndrome 4 skos:exactMatch OMIM:615716 semapv:UnspecifiedMatching -DOID:0070436 hyperphosphatasia with impaired intellectual development syndrome 4 skos:exactMatch OMIM:615716 semapv:UnspecifiedMatching -DOID:0070437 hyperphosphatasia with impaired intellectual development syndrome 6 oboInOwl:hasDbXref OMIM:616809 semapv:UnspecifiedMatching -DOID:0070437 hyperphosphatasia with impaired intellectual development syndrome 6 skos:exactMatch OMIM:616809 semapv:UnspecifiedMatching -DOID:0070437 hyperphosphatasia with impaired intellectual development syndrome 6 skos:exactMatch OMIM:616809 semapv:UnspecifiedMatching -DOID:0070438 retinal macular dystrophy oboInOwl:hasDbXref OMIMPS:136550 semapv:UnspecifiedMatching -DOID:0070438 retinal macular dystrophy skos:exactMatch OMIM:PS136550 semapv:UnspecifiedMatching -DOID:0070438 retinal macular dystrophy skos:exactMatch OMIMPS:136550 semapv:UnspecifiedMatching DOID:0070439 North Carolina macular dystrophy oboInOwl:hasDbXref GARD:9179 semapv:UnspecifiedMatching DOID:0070439 North Carolina macular dystrophy oboInOwl:hasDbXref MESH:C537835 semapv:UnspecifiedMatching DOID:0070439 North Carolina macular dystrophy oboInOwl:hasDbXref NCI:C168999 semapv:UnspecifiedMatching -DOID:0070439 North Carolina macular dystrophy oboInOwl:hasDbXref OMIM:136550 semapv:UnspecifiedMatching DOID:0070439 North Carolina macular dystrophy oboInOwl:hasDbXref ORDO:75327 semapv:UnspecifiedMatching DOID:0070439 North Carolina macular dystrophy oboInOwl:hasDbXref UMLS:C0730294 semapv:UnspecifiedMatching DOID:0070439 North Carolina macular dystrophy skos:exactMatch GARD:9179 semapv:UnspecifiedMatching DOID:0070439 North Carolina macular dystrophy skos:exactMatch MESH:C537835 semapv:UnspecifiedMatching -DOID:0070439 North Carolina macular dystrophy skos:exactMatch OMIM:136550 semapv:UnspecifiedMatching -DOID:0070439 North Carolina macular dystrophy skos:exactMatch OMIM:136550 semapv:UnspecifiedMatching DOID:0070439 North Carolina macular dystrophy skos:exactMatch ORDO:75327 semapv:UnspecifiedMatching DOID:0070439 North Carolina macular dystrophy skos:exactMatch UMLS:C0730294 semapv:UnspecifiedMatching -DOID:0070440 retinal macular dystrophy 3 oboInOwl:hasDbXref OMIM:608850 semapv:UnspecifiedMatching -DOID:0070440 retinal macular dystrophy 3 skos:exactMatch OMIM:608850 semapv:UnspecifiedMatching -DOID:0070440 retinal macular dystrophy 3 skos:exactMatch OMIM:608850 semapv:UnspecifiedMatching -DOID:0070441 retinal macular dystrophy 4 oboInOwl:hasDbXref OMIM:619977 semapv:UnspecifiedMatching -DOID:0070441 retinal macular dystrophy 4 skos:exactMatch OMIM:619977 semapv:UnspecifiedMatching -DOID:0070441 retinal macular dystrophy 4 skos:exactMatch OMIM:619977 semapv:UnspecifiedMatching -DOID:0070442 paroxysmal nonkinesigenic dyskinesia 3 oboInOwl:hasDbXref OMIM:609446 semapv:UnspecifiedMatching DOID:0070442 paroxysmal nonkinesigenic dyskinesia 3 oboInOwl:hasDbXref ORDO:79137 semapv:UnspecifiedMatching -DOID:0070442 paroxysmal nonkinesigenic dyskinesia 3 skos:exactMatch OMIM:609446 semapv:UnspecifiedMatching -DOID:0070442 paroxysmal nonkinesigenic dyskinesia 3 skos:exactMatch OMIM:609446 semapv:UnspecifiedMatching DOID:0070442 paroxysmal nonkinesigenic dyskinesia 3 skos:exactMatch ORDO:79137 semapv:UnspecifiedMatching -DOID:0070443 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction oboInOwl:hasDbXref OMIM:619333 semapv:UnspecifiedMatching -DOID:0070443 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction skos:exactMatch OMIM:619333 semapv:UnspecifiedMatching -DOID:0070443 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction skos:exactMatch OMIM:619333 semapv:UnspecifiedMatching -DOID:0070444 neurodevelopmental disorder with language delay and seizures oboInOwl:hasDbXref OMIM:619908 semapv:UnspecifiedMatching -DOID:0070444 neurodevelopmental disorder with language delay and seizures skos:exactMatch OMIM:619908 semapv:UnspecifiedMatching -DOID:0070444 neurodevelopmental disorder with language delay and seizures skos:exactMatch OMIM:619908 semapv:UnspecifiedMatching -DOID:0070445 early-onset dystonia and/or spastic paraplegia oboInOwl:hasDbXref OMIM:619681 semapv:UnspecifiedMatching -DOID:0070445 early-onset dystonia and/or spastic paraplegia skos:exactMatch OMIM:619681 semapv:UnspecifiedMatching -DOID:0070445 early-onset dystonia and/or spastic paraplegia skos:exactMatch OMIM:619681 semapv:UnspecifiedMatching -DOID:0070446 mitochondrial DNA depletion syndrome 16 oboInOwl:hasDbXref OMIM:618528 semapv:UnspecifiedMatching -DOID:0070446 mitochondrial DNA depletion syndrome 16 skos:exactMatch OMIM:618528 semapv:UnspecifiedMatching -DOID:0070446 mitochondrial DNA depletion syndrome 16 skos:exactMatch OMIM:618528 semapv:UnspecifiedMatching -DOID:0070447 mitochondrial DNA depletion syndrome 16B oboInOwl:hasDbXref OMIM:619425 semapv:UnspecifiedMatching -DOID:0070447 mitochondrial DNA depletion syndrome 16B skos:exactMatch OMIM:619425 semapv:UnspecifiedMatching -DOID:0070447 mitochondrial DNA depletion syndrome 16B skos:exactMatch OMIM:619425 semapv:UnspecifiedMatching -DOID:0070448 mitochondrial DNA depletion syndrome 17 oboInOwl:hasDbXref OMIM:618567 semapv:UnspecifiedMatching -DOID:0070448 mitochondrial DNA depletion syndrome 17 skos:exactMatch OMIM:618567 semapv:UnspecifiedMatching -DOID:0070448 mitochondrial DNA depletion syndrome 17 skos:exactMatch OMIM:618567 semapv:UnspecifiedMatching -DOID:0070449 mitochondrial DNA depletion syndrome 18 oboInOwl:hasDbXref OMIM:618811 semapv:UnspecifiedMatching -DOID:0070449 mitochondrial DNA depletion syndrome 18 skos:exactMatch OMIM:618811 semapv:UnspecifiedMatching -DOID:0070449 mitochondrial DNA depletion syndrome 18 skos:exactMatch OMIM:618811 semapv:UnspecifiedMatching -DOID:0070450 mitochondrial DNA depletion syndrome 19 oboInOwl:hasDbXref OMIM:618972 semapv:UnspecifiedMatching -DOID:0070450 mitochondrial DNA depletion syndrome 19 skos:exactMatch OMIM:618972 semapv:UnspecifiedMatching -DOID:0070450 mitochondrial DNA depletion syndrome 19 skos:exactMatch OMIM:618972 semapv:UnspecifiedMatching -DOID:0070451 mitochondrial DNA depletion syndrome 20 oboInOwl:hasDbXref OMIM:619780 semapv:UnspecifiedMatching -DOID:0070451 mitochondrial DNA depletion syndrome 20 skos:exactMatch OMIM:619780 semapv:UnspecifiedMatching -DOID:0070451 mitochondrial DNA depletion syndrome 20 skos:exactMatch OMIM:619780 semapv:UnspecifiedMatching DOID:0070452 xanthinuria type I oboInOwl:hasDbXref GARD:5621 semapv:UnspecifiedMatching DOID:0070452 xanthinuria type I oboInOwl:hasDbXref MESH:C562584 semapv:UnspecifiedMatching -DOID:0070452 xanthinuria type I oboInOwl:hasDbXref OMIM:278300 semapv:UnspecifiedMatching DOID:0070452 xanthinuria type I oboInOwl:hasDbXref ORDO:93601 semapv:UnspecifiedMatching DOID:0070452 xanthinuria type I oboInOwl:hasDbXref UMLS:C0268118 semapv:UnspecifiedMatching -DOID:0070452 xanthinuria type I skos:exactMatch OMIM:278300 semapv:UnspecifiedMatching DOID:0070453 xanthinuria type II oboInOwl:hasDbXref GARD:5620 semapv:UnspecifiedMatching DOID:0070453 xanthinuria type II oboInOwl:hasDbXref MESH:C566358 semapv:UnspecifiedMatching -DOID:0070453 xanthinuria type II oboInOwl:hasDbXref OMIM:603592 semapv:UnspecifiedMatching DOID:0070453 xanthinuria type II oboInOwl:hasDbXref ORDO:93602 semapv:UnspecifiedMatching DOID:0070453 xanthinuria type II oboInOwl:hasDbXref UMLS:C1863688 semapv:UnspecifiedMatching -DOID:0070453 xanthinuria type II skos:exactMatch OMIM:603592 semapv:UnspecifiedMatching -DOID:0070454 hereditary spastic paraplegia 70 oboInOwl:hasDbXref OMIM:620323 semapv:UnspecifiedMatching -DOID:0070454 hereditary spastic paraplegia 70 skos:exactMatch OMIM:620323 semapv:UnspecifiedMatching -DOID:0070454 hereditary spastic paraplegia 70 skos:exactMatch OMIM:620323 semapv:UnspecifiedMatching -DOID:0070455 hereditary spastic paraplegia 79A oboInOwl:hasDbXref OMIM:620221 semapv:UnspecifiedMatching -DOID:0070455 hereditary spastic paraplegia 79A skos:exactMatch OMIM:620221 semapv:UnspecifiedMatching -DOID:0070455 hereditary spastic paraplegia 79A skos:exactMatch OMIM:620221 semapv:UnspecifiedMatching -DOID:0070456 hereditary spastic paraplegia 87 oboInOwl:hasDbXref OMIM:619966 semapv:UnspecifiedMatching -DOID:0070456 hereditary spastic paraplegia 87 skos:exactMatch OMIM:619966 semapv:UnspecifiedMatching -DOID:0070456 hereditary spastic paraplegia 87 skos:exactMatch OMIM:619966 semapv:UnspecifiedMatching -DOID:0070457 hereditary spastic paraplegia 88 oboInOwl:hasDbXref OMIM:620106 semapv:UnspecifiedMatching -DOID:0070457 hereditary spastic paraplegia 88 skos:exactMatch OMIM:620106 semapv:UnspecifiedMatching -DOID:0070457 hereditary spastic paraplegia 88 skos:exactMatch OMIM:620106 semapv:UnspecifiedMatching -DOID:0070458 hereditary spastic paraplegia 89 oboInOwl:hasDbXref OMIM:620379 semapv:UnspecifiedMatching -DOID:0070458 hereditary spastic paraplegia 89 skos:exactMatch OMIM:620379 semapv:UnspecifiedMatching -DOID:0070458 hereditary spastic paraplegia 89 skos:exactMatch OMIM:620379 semapv:UnspecifiedMatching -DOID:0070459 hereditary spastic paraplegia 90A oboInOwl:hasDbXref OMIM:620416 semapv:UnspecifiedMatching -DOID:0070459 hereditary spastic paraplegia 90A skos:exactMatch OMIM:620416 semapv:UnspecifiedMatching -DOID:0070459 hereditary spastic paraplegia 90A skos:exactMatch OMIM:620416 semapv:UnspecifiedMatching -DOID:0070460 hereditary spastic paraplegia 90B oboInOwl:hasDbXref OMIM:620417 semapv:UnspecifiedMatching -DOID:0070460 hereditary spastic paraplegia 90B skos:exactMatch OMIM:620417 semapv:UnspecifiedMatching -DOID:0070460 hereditary spastic paraplegia 90B skos:exactMatch OMIM:620417 semapv:UnspecifiedMatching -DOID:0070461 mitochondrial complex V (ATP synthase) deficiency nuclear type 4A oboInOwl:hasDbXref OMIM:620358 semapv:UnspecifiedMatching -DOID:0070461 mitochondrial complex V (ATP synthase) deficiency nuclear type 4A skos:exactMatch OMIM:620358 semapv:UnspecifiedMatching -DOID:0070461 mitochondrial complex V (ATP synthase) deficiency nuclear type 4A skos:exactMatch OMIM:620358 semapv:UnspecifiedMatching -DOID:0070462 mitochondrial complex V (ATP synthase) deficiency nuclear type 4B oboInOwl:hasDbXref OMIM:615228 semapv:UnspecifiedMatching -DOID:0070462 mitochondrial complex V (ATP synthase) deficiency nuclear type 4B skos:exactMatch OMIM:615228 semapv:UnspecifiedMatching -DOID:0070462 mitochondrial complex V (ATP synthase) deficiency nuclear type 4B skos:exactMatch OMIM:615228 semapv:UnspecifiedMatching -DOID:0070463 mitochondrial complex V (ATP synthase) deficiency nuclear type 5 oboInOwl:hasDbXref OMIM:618120 semapv:UnspecifiedMatching -DOID:0070463 mitochondrial complex V (ATP synthase) deficiency nuclear type 5 skos:exactMatch OMIM:618120 semapv:UnspecifiedMatching -DOID:0070463 mitochondrial complex V (ATP synthase) deficiency nuclear type 5 skos:exactMatch OMIM:618120 semapv:UnspecifiedMatching -DOID:0070464 mitochondrial complex V (ATP synthase) deficiency nuclear type 7 oboInOwl:hasDbXref OMIM:620359 semapv:UnspecifiedMatching -DOID:0070464 mitochondrial complex V (ATP synthase) deficiency nuclear type 7 skos:exactMatch OMIM:620359 semapv:UnspecifiedMatching -DOID:0070464 mitochondrial complex V (ATP synthase) deficiency nuclear type 7 skos:exactMatch OMIM:620359 semapv:UnspecifiedMatching -DOID:0070465 spinocerebellar ataxia with axonal neuropathy type 3 oboInOwl:hasDbXref OMIM:618387 semapv:UnspecifiedMatching -DOID:0070465 spinocerebellar ataxia with axonal neuropathy type 3 skos:exactMatch OMIM:618387 semapv:UnspecifiedMatching -DOID:0070466 carpal tunnel syndrome 1 oboInOwl:hasDbXref OMIM:115430 semapv:UnspecifiedMatching -DOID:0070466 carpal tunnel syndrome 1 skos:exactMatch OMIM:115430 semapv:UnspecifiedMatching -DOID:0070467 carpal tunnel syndrome 2 oboInOwl:hasDbXref OMIM:619161 semapv:UnspecifiedMatching -DOID:0070467 carpal tunnel syndrome 2 skos:exactMatch OMIM:619161 semapv:UnspecifiedMatching -DOID:0070468 Yoon-Bellen neurodevelopmental syndrome oboInOwl:hasDbXref OMIM:619701 semapv:UnspecifiedMatching -DOID:0070468 Yoon-Bellen neurodevelopmental syndrome skos:exactMatch OMIM:619701 semapv:UnspecifiedMatching -DOID:0070468 Yoon-Bellen neurodevelopmental syndrome skos:exactMatch OMIM:619701 semapv:UnspecifiedMatching -DOID:0070469 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum oboInOwl:hasDbXref OMIM:619480 semapv:UnspecifiedMatching -DOID:0070469 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum skos:exactMatch OMIM:619480 semapv:UnspecifiedMatching -DOID:0070469 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum skos:exactMatch OMIM:619480 semapv:UnspecifiedMatching -DOID:0070470 chromosome 1p36.33 duplication syndrome oboInOwl:hasDbXref OMIM:618815 semapv:UnspecifiedMatching DOID:0070470 chromosome 1p36.33 duplication syndrome oboInOwl:hasDbXref ORDO:656279 semapv:UnspecifiedMatching DOID:0070470 chromosome 1p36.33 duplication syndrome oboInOwl:hasDbXref UMLS:C5394150 semapv:UnspecifiedMatching -DOID:0070470 chromosome 1p36.33 duplication syndrome skos:exactMatch OMIM:618815 semapv:UnspecifiedMatching -DOID:0070470 chromosome 1p36.33 duplication syndrome skos:exactMatch OMIM:618815 semapv:UnspecifiedMatching DOID:0070470 chromosome 1p36.33 duplication syndrome skos:exactMatch ORDO:656279 semapv:UnspecifiedMatching DOID:0070470 chromosome 1p36.33 duplication syndrome skos:exactMatch UMLS:C5394150 semapv:UnspecifiedMatching -DOID:0070471 early-onset epilepsy 2 oboInOwl:hasDbXref OMIM:618832 semapv:UnspecifiedMatching -DOID:0070471 early-onset epilepsy 2 skos:exactMatch OMIM:618832 semapv:UnspecifiedMatching -DOID:0070471 early-onset epilepsy 2 skos:exactMatch OMIM:618832 semapv:UnspecifiedMatching -DOID:0070472 early-onset epilepsy 3 oboInOwl:hasDbXref OMIM:620465 semapv:UnspecifiedMatching -DOID:0070472 early-onset epilepsy 3 skos:exactMatch OMIM:620465 semapv:UnspecifiedMatching -DOID:0070472 early-onset epilepsy 3 skos:exactMatch OMIM:620465 semapv:UnspecifiedMatching -DOID:0070473 Zaki syndrome oboInOwl:hasDbXref OMIM:619648 semapv:UnspecifiedMatching -DOID:0070473 Zaki syndrome skos:exactMatch OMIM:619648 semapv:UnspecifiedMatching -DOID:0070473 Zaki syndrome skos:exactMatch OMIM:619648 semapv:UnspecifiedMatching DOID:0070474 childhood-onset neurodegeneration with brain atrophy oboInOwl:hasDbXref GARD:13658 semapv:UnspecifiedMatching -DOID:0070474 childhood-onset neurodegeneration with brain atrophy oboInOwl:hasDbXref OMIM:617672 semapv:UnspecifiedMatching DOID:0070474 childhood-onset neurodegeneration with brain atrophy oboInOwl:hasDbXref ORDO:500180 semapv:UnspecifiedMatching DOID:0070474 childhood-onset neurodegeneration with brain atrophy oboInOwl:hasDbXref UMLS:C4540086 semapv:UnspecifiedMatching DOID:0070474 childhood-onset neurodegeneration with brain atrophy oboInOwl:hasDbXref UMLS:C5567227 semapv:UnspecifiedMatching DOID:0070474 childhood-onset neurodegeneration with brain atrophy skos:exactMatch GARD:13658 semapv:UnspecifiedMatching -DOID:0070474 childhood-onset neurodegeneration with brain atrophy skos:exactMatch OMIM:617672 semapv:UnspecifiedMatching -DOID:0070474 childhood-onset neurodegeneration with brain atrophy skos:exactMatch OMIM:617672 semapv:UnspecifiedMatching DOID:0070474 childhood-onset neurodegeneration with brain atrophy skos:exactMatch ORDO:500180 semapv:UnspecifiedMatching DOID:0070474 childhood-onset neurodegeneration with brain atrophy skos:exactMatch SNOMEDCT_US_2020_03_01:1167373005 semapv:UnspecifiedMatching DOID:0070474 childhood-onset neurodegeneration with brain atrophy skos:exactMatch UMLS:C4540086 semapv:UnspecifiedMatching @@ -6023,357 +3218,212 @@ DOID:0070475 SMARCB1-deficient renal medullary carcinoma skos:exactMatch NCI:C75 DOID:0070475 SMARCB1-deficient renal medullary carcinoma skos:exactMatch ORDO:319319 semapv:UnspecifiedMatching DOID:0070475 SMARCB1-deficient renal medullary carcinoma skos:exactMatch SNOMEDCT_US_2020_03_01:765095002 semapv:UnspecifiedMatching DOID:0070475 SMARCB1-deficient renal medullary carcinoma skos:exactMatch UMLS:C4049328 semapv:UnspecifiedMatching -DOID:0070476 diphthamide deficiency syndrome oboInOwl:hasDbXref OMIMPS:616901 semapv:UnspecifiedMatching DOID:0070476 diphthamide deficiency syndrome oboInOwl:hasDbXref ORDO:459061 semapv:UnspecifiedMatching -DOID:0070476 diphthamide deficiency syndrome skos:exactMatch OMIM:PS616901 semapv:UnspecifiedMatching -DOID:0070476 diphthamide deficiency syndrome skos:exactMatch OMIMPS:616901 semapv:UnspecifiedMatching DOID:0070476 diphthamide deficiency syndrome skos:exactMatch ORDO:459061 semapv:UnspecifiedMatching -DOID:0070477 diphthamide deficiency syndrome 1 oboInOwl:hasDbXref OMIM:616901 semapv:UnspecifiedMatching -DOID:0070477 diphthamide deficiency syndrome 1 skos:exactMatch OMIM:616901 semapv:UnspecifiedMatching -DOID:0070477 diphthamide deficiency syndrome 1 skos:exactMatch OMIM:616901 semapv:UnspecifiedMatching -DOID:0070478 diphthamide deficiency syndrome 2 oboInOwl:hasDbXref OMIM:620062 semapv:UnspecifiedMatching -DOID:0070478 diphthamide deficiency syndrome 2 skos:exactMatch OMIM:620062 semapv:UnspecifiedMatching -DOID:0070478 diphthamide deficiency syndrome 2 skos:exactMatch OMIM:620062 semapv:UnspecifiedMatching -DOID:0070479 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties oboInOwl:hasDbXref OMIM:620070 semapv:UnspecifiedMatching -DOID:0070479 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties skos:exactMatch OMIM:620070 semapv:UnspecifiedMatching -DOID:0070479 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties skos:exactMatch OMIM:620070 semapv:UnspecifiedMatching DOID:0070480 schwannomatosis 1 oboInOwl:hasDbXref NCI:C186703 semapv:UnspecifiedMatching -DOID:0070480 schwannomatosis 1 oboInOwl:hasDbXref OMIM:162091 semapv:UnspecifiedMatching DOID:0070480 schwannomatosis 1 oboInOwl:hasDbXref UMLS:C5670707 semapv:UnspecifiedMatching DOID:0070480 schwannomatosis 1 skos:exactMatch NCI:C186703 semapv:UnspecifiedMatching -DOID:0070480 schwannomatosis 1 skos:exactMatch OMIM:162091 semapv:UnspecifiedMatching -DOID:0070480 schwannomatosis 1 skos:exactMatch OMIM:162091 semapv:UnspecifiedMatching DOID:0070480 schwannomatosis 1 skos:exactMatch UMLS:C5670707 semapv:UnspecifiedMatching DOID:0070481 schwannomatosis 2 oboInOwl:hasDbXref NCI:C186704 semapv:UnspecifiedMatching -DOID:0070481 schwannomatosis 2 oboInOwl:hasDbXref OMIM:615670 semapv:UnspecifiedMatching DOID:0070481 schwannomatosis 2 oboInOwl:hasDbXref UMLS:C5670708 semapv:UnspecifiedMatching DOID:0070481 schwannomatosis 2 skos:exactMatch NCI:C186704 semapv:UnspecifiedMatching -DOID:0070481 schwannomatosis 2 skos:exactMatch OMIM:615670 semapv:UnspecifiedMatching -DOID:0070481 schwannomatosis 2 skos:exactMatch OMIM:615670 semapv:UnspecifiedMatching DOID:0070481 schwannomatosis 2 skos:exactMatch UMLS:C5670708 semapv:UnspecifiedMatching -DOID:0070482 spinal neurofibromatosis oboInOwl:hasDbXref OMIM:162210 semapv:UnspecifiedMatching -DOID:0070482 spinal neurofibromatosis skos:exactMatch OMIM:162210 semapv:UnspecifiedMatching -DOID:0070482 spinal neurofibromatosis skos:exactMatch OMIM:162210 semapv:UnspecifiedMatching -DOID:0070483 Watson syndrome oboInOwl:hasDbXref OMIM:193520 semapv:UnspecifiedMatching -DOID:0070483 Watson syndrome skos:exactMatch OMIM:193520 semapv:UnspecifiedMatching -DOID:0070483 Watson syndrome skos:exactMatch OMIM:193520 semapv:UnspecifiedMatching DOID:0070484 Legius syndrome oboInOwl:hasDbXref GARD:10714 semapv:UnspecifiedMatching DOID:0070484 Legius syndrome oboInOwl:hasDbXref MESH:C548032 semapv:UnspecifiedMatching DOID:0070484 Legius syndrome oboInOwl:hasDbXref NCI:C176941 semapv:UnspecifiedMatching -DOID:0070484 Legius syndrome oboInOwl:hasDbXref OMIM:611431 semapv:UnspecifiedMatching DOID:0070484 Legius syndrome oboInOwl:hasDbXref ORDO:137605 semapv:UnspecifiedMatching DOID:0070484 Legius syndrome oboInOwl:hasDbXref UMLS:C1969623 semapv:UnspecifiedMatching DOID:0070484 Legius syndrome skos:exactMatch GARD:10714 semapv:UnspecifiedMatching DOID:0070484 Legius syndrome skos:exactMatch MESH:C548032 semapv:UnspecifiedMatching DOID:0070484 Legius syndrome skos:exactMatch NCI:C176941 semapv:UnspecifiedMatching -DOID:0070484 Legius syndrome skos:exactMatch OMIM:611431 semapv:UnspecifiedMatching -DOID:0070484 Legius syndrome skos:exactMatch OMIM:611431 semapv:UnspecifiedMatching DOID:0070484 Legius syndrome skos:exactMatch ORDO:137605 semapv:UnspecifiedMatching DOID:0070484 Legius syndrome skos:exactMatch SNOMEDCT_US_2020_03_01:703541007 semapv:UnspecifiedMatching DOID:0070484 Legius syndrome skos:exactMatch UMLS:C1969623 semapv:UnspecifiedMatching -DOID:0070485 mitochondrial complex IV deficiency nuclear type 23 oboInOwl:hasDbXref OMIM:620275 semapv:UnspecifiedMatching DOID:0070485 mitochondrial complex IV deficiency nuclear type 23 oboInOwl:hasDbXref UMLS:C5830322 semapv:UnspecifiedMatching -DOID:0070485 mitochondrial complex IV deficiency nuclear type 23 skos:exactMatch OMIM:620275 semapv:UnspecifiedMatching -DOID:0070485 mitochondrial complex IV deficiency nuclear type 23 skos:exactMatch OMIM:620275 semapv:UnspecifiedMatching DOID:0070485 mitochondrial complex IV deficiency nuclear type 23 skos:exactMatch UMLS:C5830322 semapv:UnspecifiedMatching -DOID:0070486 Parkinson's disease 25 oboInOwl:hasDbXref OMIM:620482 semapv:UnspecifiedMatching -DOID:0070486 Parkinson's disease 25 skos:exactMatch OMIM:620482 semapv:UnspecifiedMatching -DOID:0070486 Parkinson's disease 25 skos:exactMatch OMIM:620482 semapv:UnspecifiedMatching DOID:0070489 classic dopamine transporter deficiency syndrome oboInOwl:hasDbXref GARD:10484 semapv:UnspecifiedMatching DOID:0070489 classic dopamine transporter deficiency syndrome oboInOwl:hasDbXref MESH:C567730 semapv:UnspecifiedMatching DOID:0070489 classic dopamine transporter deficiency syndrome oboInOwl:hasDbXref NCI:C129866 semapv:UnspecifiedMatching -DOID:0070489 classic dopamine transporter deficiency syndrome oboInOwl:hasDbXref OMIM:613135 semapv:UnspecifiedMatching DOID:0070489 classic dopamine transporter deficiency syndrome oboInOwl:hasDbXref ORDO:238455 semapv:UnspecifiedMatching DOID:0070489 classic dopamine transporter deficiency syndrome oboInOwl:hasDbXref UMLS:C2751067 semapv:UnspecifiedMatching -DOID:0070489 classic dopamine transporter deficiency syndrome skos:broadMatch OMIM:PS613135 semapv:UnspecifiedMatching DOID:0070489 classic dopamine transporter deficiency syndrome skos:exactMatch GARD:10484 semapv:UnspecifiedMatching DOID:0070489 classic dopamine transporter deficiency syndrome skos:exactMatch MESH:C567730 semapv:UnspecifiedMatching DOID:0070489 classic dopamine transporter deficiency syndrome skos:exactMatch NCI:C129866 semapv:UnspecifiedMatching -DOID:0070489 classic dopamine transporter deficiency syndrome skos:exactMatch OMIM:613135 semapv:UnspecifiedMatching -DOID:0070489 classic dopamine transporter deficiency syndrome skos:exactMatch OMIM:613135 semapv:UnspecifiedMatching DOID:0070489 classic dopamine transporter deficiency syndrome skos:exactMatch ORDO:238455 semapv:UnspecifiedMatching DOID:0070489 classic dopamine transporter deficiency syndrome skos:exactMatch SNOMEDCT_US_2020_03_01:722763000 semapv:UnspecifiedMatching DOID:0070489 classic dopamine transporter deficiency syndrome skos:exactMatch UMLS:C2751067 semapv:UnspecifiedMatching DOID:0070490 infantile parkinsonism-dystonia 2 oboInOwl:hasDbXref GARD:13594 semapv:UnspecifiedMatching -DOID:0070490 infantile parkinsonism-dystonia 2 oboInOwl:hasDbXref OMIM:618049 semapv:UnspecifiedMatching DOID:0070490 infantile parkinsonism-dystonia 2 oboInOwl:hasDbXref UMLS:C4303546 semapv:UnspecifiedMatching DOID:0070490 infantile parkinsonism-dystonia 2 oboInOwl:hasDbXref UMLS:C4747991 semapv:UnspecifiedMatching -DOID:0070490 infantile parkinsonism-dystonia 2 skos:broadMatch OMIM:PS613135 semapv:UnspecifiedMatching DOID:0070490 infantile parkinsonism-dystonia 2 skos:exactMatch GARD:13594 semapv:UnspecifiedMatching -DOID:0070490 infantile parkinsonism-dystonia 2 skos:exactMatch OMIM:618049 semapv:UnspecifiedMatching -DOID:0070490 infantile parkinsonism-dystonia 2 skos:exactMatch OMIM:618049 semapv:UnspecifiedMatching DOID:0070490 infantile parkinsonism-dystonia 2 skos:exactMatch SNOMEDCT_US_2020_03_01:717942003 semapv:UnspecifiedMatching DOID:0070490 infantile parkinsonism-dystonia 2 skos:exactMatch UMLS:C4303546 semapv:UnspecifiedMatching DOID:0070490 infantile parkinsonism-dystonia 2 skos:exactMatch UMLS:C4747991 semapv:UnspecifiedMatching DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 oboInOwl:hasDbXref NCI:C176895 semapv:UnspecifiedMatching -DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 oboInOwl:hasDbXref OMIM:220110 semapv:UnspecifiedMatching DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 oboInOwl:hasDbXref UMLS:C5435656 semapv:UnspecifiedMatching DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 skos:exactMatch NCI:C176895 semapv:UnspecifiedMatching -DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 skos:exactMatch OMIM:220110 semapv:UnspecifiedMatching -DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 skos:exactMatch OMIM:220110 semapv:UnspecifiedMatching DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 skos:exactMatch UMLS:C5435656 semapv:UnspecifiedMatching -DOID:0070492 mitochondrial complex IV deficiency nuclear type 3 oboInOwl:hasDbXref OMIM:619046 semapv:UnspecifiedMatching DOID:0070492 mitochondrial complex IV deficiency nuclear type 3 oboInOwl:hasDbXref UMLS:C5436682 semapv:UnspecifiedMatching -DOID:0070492 mitochondrial complex IV deficiency nuclear type 3 skos:exactMatch OMIM:619046 semapv:UnspecifiedMatching -DOID:0070492 mitochondrial complex IV deficiency nuclear type 3 skos:exactMatch OMIM:619046 semapv:UnspecifiedMatching DOID:0070492 mitochondrial complex IV deficiency nuclear type 3 skos:exactMatch UMLS:C5436682 semapv:UnspecifiedMatching -DOID:0070493 mitochondrial complex IV deficiency nuclear type 4 oboInOwl:hasDbXref OMIM:619048 semapv:UnspecifiedMatching DOID:0070493 mitochondrial complex IV deficiency nuclear type 4 oboInOwl:hasDbXref UMLS:C5436683 semapv:UnspecifiedMatching -DOID:0070493 mitochondrial complex IV deficiency nuclear type 4 skos:exactMatch OMIM:619048 semapv:UnspecifiedMatching -DOID:0070493 mitochondrial complex IV deficiency nuclear type 4 skos:exactMatch OMIM:619048 semapv:UnspecifiedMatching DOID:0070493 mitochondrial complex IV deficiency nuclear type 4 skos:exactMatch UMLS:C5436683 semapv:UnspecifiedMatching -DOID:0070494 mitochondrial complex IV deficiency nuclear type 7 oboInOwl:hasDbXref OMIM:619051 semapv:UnspecifiedMatching DOID:0070494 mitochondrial complex IV deficiency nuclear type 7 oboInOwl:hasDbXref UMLS:C5436685 semapv:UnspecifiedMatching -DOID:0070494 mitochondrial complex IV deficiency nuclear type 7 skos:exactMatch OMIM:619051 semapv:UnspecifiedMatching -DOID:0070494 mitochondrial complex IV deficiency nuclear type 7 skos:exactMatch OMIM:619051 semapv:UnspecifiedMatching DOID:0070494 mitochondrial complex IV deficiency nuclear type 7 skos:exactMatch UMLS:C5436685 semapv:UnspecifiedMatching -DOID:0070495 mitochondrial complex IV deficiency nuclear type 8 oboInOwl:hasDbXref OMIM:619052 semapv:UnspecifiedMatching DOID:0070495 mitochondrial complex IV deficiency nuclear type 8 oboInOwl:hasDbXref UMLS:C5436689 semapv:UnspecifiedMatching -DOID:0070495 mitochondrial complex IV deficiency nuclear type 8 skos:exactMatch OMIM:619052 semapv:UnspecifiedMatching -DOID:0070495 mitochondrial complex IV deficiency nuclear type 8 skos:exactMatch OMIM:619052 semapv:UnspecifiedMatching DOID:0070495 mitochondrial complex IV deficiency nuclear type 8 skos:exactMatch UMLS:C5436689 semapv:UnspecifiedMatching -DOID:0070496 mitochondrial complex IV deficiency nuclear type 10 oboInOwl:hasDbXref OMIM:619053 semapv:UnspecifiedMatching DOID:0070496 mitochondrial complex IV deficiency nuclear type 10 oboInOwl:hasDbXref UMLS:C5436692 semapv:UnspecifiedMatching -DOID:0070496 mitochondrial complex IV deficiency nuclear type 10 skos:exactMatch OMIM:619053 semapv:UnspecifiedMatching -DOID:0070496 mitochondrial complex IV deficiency nuclear type 10 skos:exactMatch OMIM:619053 semapv:UnspecifiedMatching DOID:0070496 mitochondrial complex IV deficiency nuclear type 10 skos:exactMatch UMLS:C5436692 semapv:UnspecifiedMatching -DOID:0070497 mitochondrial complex IV deficiency nuclear type 11 oboInOwl:hasDbXref OMIM:619054 semapv:UnspecifiedMatching DOID:0070497 mitochondrial complex IV deficiency nuclear type 11 oboInOwl:hasDbXref UMLS:C5436694 semapv:UnspecifiedMatching -DOID:0070497 mitochondrial complex IV deficiency nuclear type 11 skos:exactMatch OMIM:619054 semapv:UnspecifiedMatching -DOID:0070497 mitochondrial complex IV deficiency nuclear type 11 skos:exactMatch OMIM:619054 semapv:UnspecifiedMatching DOID:0070497 mitochondrial complex IV deficiency nuclear type 11 skos:exactMatch UMLS:C5436694 semapv:UnspecifiedMatching -DOID:0070498 mitochondrial complex IV deficiency nuclear type 12 oboInOwl:hasDbXref OMIM:619055 semapv:UnspecifiedMatching DOID:0070498 mitochondrial complex IV deficiency nuclear type 12 oboInOwl:hasDbXref UMLS:C5436695 semapv:UnspecifiedMatching -DOID:0070498 mitochondrial complex IV deficiency nuclear type 12 skos:exactMatch OMIM:619055 semapv:UnspecifiedMatching -DOID:0070498 mitochondrial complex IV deficiency nuclear type 12 skos:exactMatch OMIM:619055 semapv:UnspecifiedMatching DOID:0070498 mitochondrial complex IV deficiency nuclear type 12 skos:exactMatch UMLS:C5436695 semapv:UnspecifiedMatching -DOID:0070499 mitochondrial complex IV deficiency nuclear type 14 oboInOwl:hasDbXref OMIM:619058 semapv:UnspecifiedMatching DOID:0070499 mitochondrial complex IV deficiency nuclear type 14 oboInOwl:hasDbXref UMLS:C5436710 semapv:UnspecifiedMatching -DOID:0070499 mitochondrial complex IV deficiency nuclear type 14 skos:exactMatch OMIM:619058 semapv:UnspecifiedMatching -DOID:0070499 mitochondrial complex IV deficiency nuclear type 14 skos:exactMatch OMIM:619058 semapv:UnspecifiedMatching DOID:0070499 mitochondrial complex IV deficiency nuclear type 14 skos:exactMatch UMLS:C5436710 semapv:UnspecifiedMatching -DOID:0070500 mitochondrial complex IV deficiency nuclear type 15 oboInOwl:hasDbXref OMIM:619059 semapv:UnspecifiedMatching DOID:0070500 mitochondrial complex IV deficiency nuclear type 15 oboInOwl:hasDbXref UMLS:C5436712 semapv:UnspecifiedMatching -DOID:0070500 mitochondrial complex IV deficiency nuclear type 15 skos:exactMatch OMIM:619059 semapv:UnspecifiedMatching -DOID:0070500 mitochondrial complex IV deficiency nuclear type 15 skos:exactMatch OMIM:619059 semapv:UnspecifiedMatching DOID:0070500 mitochondrial complex IV deficiency nuclear type 15 skos:exactMatch UMLS:C5436712 semapv:UnspecifiedMatching -DOID:0070501 mitochondrial complex IV deficiency nuclear type 16 oboInOwl:hasDbXref OMIM:619060 semapv:UnspecifiedMatching DOID:0070501 mitochondrial complex IV deficiency nuclear type 16 oboInOwl:hasDbXref UMLS:C5436714 semapv:UnspecifiedMatching -DOID:0070501 mitochondrial complex IV deficiency nuclear type 16 skos:exactMatch OMIM:619060 semapv:UnspecifiedMatching -DOID:0070501 mitochondrial complex IV deficiency nuclear type 16 skos:exactMatch OMIM:619060 semapv:UnspecifiedMatching DOID:0070501 mitochondrial complex IV deficiency nuclear type 16 skos:exactMatch UMLS:C5436714 semapv:UnspecifiedMatching -DOID:0070502 mitochondrial complex IV deficiency nuclear type 17 oboInOwl:hasDbXref OMIM:619061 semapv:UnspecifiedMatching DOID:0070502 mitochondrial complex IV deficiency nuclear type 17 oboInOwl:hasDbXref UMLS:C5436718 semapv:UnspecifiedMatching -DOID:0070502 mitochondrial complex IV deficiency nuclear type 17 skos:exactMatch OMIM:619061 semapv:UnspecifiedMatching -DOID:0070502 mitochondrial complex IV deficiency nuclear type 17 skos:exactMatch OMIM:619061 semapv:UnspecifiedMatching DOID:0070502 mitochondrial complex IV deficiency nuclear type 17 skos:exactMatch UMLS:C5436718 semapv:UnspecifiedMatching -DOID:0070503 mitochondrial complex IV deficiency nuclear type 18 oboInOwl:hasDbXref OMIM:619062 semapv:UnspecifiedMatching DOID:0070503 mitochondrial complex IV deficiency nuclear type 18 oboInOwl:hasDbXref UMLS:C5436720 semapv:UnspecifiedMatching -DOID:0070503 mitochondrial complex IV deficiency nuclear type 18 skos:exactMatch OMIM:619062 semapv:UnspecifiedMatching -DOID:0070503 mitochondrial complex IV deficiency nuclear type 18 skos:exactMatch OMIM:619062 semapv:UnspecifiedMatching DOID:0070503 mitochondrial complex IV deficiency nuclear type 18 skos:exactMatch UMLS:C5436720 semapv:UnspecifiedMatching -DOID:0070504 mitochondrial complex IV deficiency nuclear type 19 oboInOwl:hasDbXref OMIM:619063 semapv:UnspecifiedMatching DOID:0070504 mitochondrial complex IV deficiency nuclear type 19 oboInOwl:hasDbXref UMLS:C5436723 semapv:UnspecifiedMatching -DOID:0070504 mitochondrial complex IV deficiency nuclear type 19 skos:exactMatch OMIM:619063 semapv:UnspecifiedMatching -DOID:0070504 mitochondrial complex IV deficiency nuclear type 19 skos:exactMatch OMIM:619063 semapv:UnspecifiedMatching DOID:0070504 mitochondrial complex IV deficiency nuclear type 19 skos:exactMatch UMLS:C5436723 semapv:UnspecifiedMatching -DOID:0070505 mitochondrial complex IV deficiency nuclear type 20 oboInOwl:hasDbXref OMIM:619064 semapv:UnspecifiedMatching DOID:0070505 mitochondrial complex IV deficiency nuclear type 20 oboInOwl:hasDbXref UMLS:C5436726 semapv:UnspecifiedMatching -DOID:0070505 mitochondrial complex IV deficiency nuclear type 20 skos:exactMatch OMIM:619064 semapv:UnspecifiedMatching -DOID:0070505 mitochondrial complex IV deficiency nuclear type 20 skos:exactMatch OMIM:619064 semapv:UnspecifiedMatching DOID:0070505 mitochondrial complex IV deficiency nuclear type 20 skos:exactMatch UMLS:C5436726 semapv:UnspecifiedMatching -DOID:0070506 mitochondrial complex IV deficiency nuclear type 21 oboInOwl:hasDbXref OMIM:619065 semapv:UnspecifiedMatching DOID:0070506 mitochondrial complex IV deficiency nuclear type 21 oboInOwl:hasDbXref UMLS:C5436727 semapv:UnspecifiedMatching -DOID:0070506 mitochondrial complex IV deficiency nuclear type 21 skos:exactMatch OMIM:619065 semapv:UnspecifiedMatching -DOID:0070506 mitochondrial complex IV deficiency nuclear type 21 skos:exactMatch OMIM:619065 semapv:UnspecifiedMatching DOID:0070506 mitochondrial complex IV deficiency nuclear type 21 skos:exactMatch UMLS:C5436727 semapv:UnspecifiedMatching -DOID:0070507 mitochondrial complex IV deficiency nuclear type 22 oboInOwl:hasDbXref OMIM:619355 semapv:UnspecifiedMatching DOID:0070507 mitochondrial complex IV deficiency nuclear type 22 oboInOwl:hasDbXref UMLS:C5543491 semapv:UnspecifiedMatching -DOID:0070507 mitochondrial complex IV deficiency nuclear type 22 skos:exactMatch OMIM:619355 semapv:UnspecifiedMatching -DOID:0070507 mitochondrial complex IV deficiency nuclear type 22 skos:exactMatch OMIM:619355 semapv:UnspecifiedMatching DOID:0070507 mitochondrial complex IV deficiency nuclear type 22 skos:exactMatch UMLS:C5543491 semapv:UnspecifiedMatching DOID:0070509 Schinzel Giedion syndrome oboInOwl:hasDbXref GARD:117 semapv:UnspecifiedMatching DOID:0070509 Schinzel Giedion syndrome oboInOwl:hasDbXref MESH:C536632 semapv:UnspecifiedMatching DOID:0070509 Schinzel Giedion syndrome oboInOwl:hasDbXref NCI:C129308 semapv:UnspecifiedMatching -DOID:0070509 Schinzel Giedion syndrome oboInOwl:hasDbXref OMIM:269150 semapv:UnspecifiedMatching DOID:0070509 Schinzel Giedion syndrome oboInOwl:hasDbXref ORDO:798 semapv:UnspecifiedMatching DOID:0070509 Schinzel Giedion syndrome oboInOwl:hasDbXref UMLS:C0265227 semapv:UnspecifiedMatching DOID:0070509 Schinzel Giedion syndrome skos:exactMatch GARD:117 semapv:UnspecifiedMatching DOID:0070509 Schinzel Giedion syndrome skos:exactMatch MESH:C536632 semapv:UnspecifiedMatching DOID:0070509 Schinzel Giedion syndrome skos:exactMatch NCI:C129308 semapv:UnspecifiedMatching -DOID:0070509 Schinzel Giedion syndrome skos:exactMatch OMIM:269150 semapv:UnspecifiedMatching -DOID:0070509 Schinzel Giedion syndrome skos:exactMatch OMIM:269150 semapv:UnspecifiedMatching DOID:0070509 Schinzel Giedion syndrome skos:exactMatch ORDO:798 semapv:UnspecifiedMatching DOID:0070509 Schinzel Giedion syndrome skos:exactMatch SNOMEDCT_US_2020_03_01:18899000 semapv:UnspecifiedMatching DOID:0070509 Schinzel Giedion syndrome skos:exactMatch UMLS:C0265227 semapv:UnspecifiedMatching -DOID:0070510 inflammatory poikiloderma with hair abnormalities and acral keratoses oboInOwl:hasDbXref OMIM:620199 semapv:UnspecifiedMatching DOID:0070510 inflammatory poikiloderma with hair abnormalities and acral keratoses oboInOwl:hasDbXref UMLS:C5774293 semapv:UnspecifiedMatching -DOID:0070510 inflammatory poikiloderma with hair abnormalities and acral keratoses skos:exactMatch OMIM:620199 semapv:UnspecifiedMatching -DOID:0070510 inflammatory poikiloderma with hair abnormalities and acral keratoses skos:exactMatch OMIM:620199 semapv:UnspecifiedMatching DOID:0070510 inflammatory poikiloderma with hair abnormalities and acral keratoses skos:exactMatch UMLS:C5774293 semapv:UnspecifiedMatching DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy oboInOwl:hasDbXref GARD:12913 semapv:UnspecifiedMatching DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy oboInOwl:hasDbXref MESH:C567020 semapv:UnspecifiedMatching -DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy oboInOwl:hasDbXref OMIM:611087 semapv:UnspecifiedMatching DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy oboInOwl:hasDbXref ORDO:500533 semapv:UnspecifiedMatching DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy oboInOwl:hasDbXref UMLS:C1970203 semapv:UnspecifiedMatching DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:exactMatch GARD:12913 semapv:UnspecifiedMatching DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:exactMatch MESH:C567020 semapv:UnspecifiedMatching -DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:exactMatch OMIM:611087 semapv:UnspecifiedMatching -DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:exactMatch OMIM:611087 semapv:UnspecifiedMatching DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:exactMatch ORDO:500533 semapv:UnspecifiedMatching DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:exactMatch SNOMEDCT_US_2020_03_01:1167371007 semapv:UnspecifiedMatching DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:exactMatch UMLS:C1970203 semapv:UnspecifiedMatching -DOID:0070512 neurodevelopmental disorder with hypotonia and speech delay oboInOwl:hasDbXref OMIM:620455 semapv:UnspecifiedMatching -DOID:0070512 neurodevelopmental disorder with hypotonia and speech delay skos:exactMatch OMIM:620455 semapv:UnspecifiedMatching -DOID:0070512 neurodevelopmental disorder with hypotonia and speech delay skos:exactMatch OMIM:620455 semapv:UnspecifiedMatching -DOID:0070513 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities oboInOwl:hasDbXref OMIM:620489 semapv:UnspecifiedMatching -DOID:0070513 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities skos:exactMatch OMIM:620489 semapv:UnspecifiedMatching -DOID:0070513 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities skos:exactMatch OMIM:620489 semapv:UnspecifiedMatching -DOID:0070514 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies oboInOwl:hasDbXref OMIM:617755 semapv:UnspecifiedMatching -DOID:0070514 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies skos:exactMatch OMIM:617755 semapv:UnspecifiedMatching -DOID:0070514 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies skos:exactMatch OMIM:617755 semapv:UnspecifiedMatching DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb oboInOwl:hasDbXref GARD:10740 semapv:UnspecifiedMatching -DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb oboInOwl:hasDbXref OMIM:611913 semapv:UnspecifiedMatching DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb oboInOwl:hasDbXref ORDO:261197 semapv:UnspecifiedMatching DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb oboInOwl:hasDbXref UMLS:C3150154 semapv:UnspecifiedMatching DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb oboInOwl:hasDbXref UMLS:C4273657 semapv:UnspecifiedMatching DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb skos:broadMatch ICD10CM:Q93.5 semapv:UnspecifiedMatching DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb skos:exactMatch GARD:10740 semapv:UnspecifiedMatching -DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb skos:exactMatch OMIM:611913 semapv:UnspecifiedMatching -DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb skos:exactMatch OMIM:611913 semapv:UnspecifiedMatching DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb skos:exactMatch ORDO:261197 semapv:UnspecifiedMatching DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb skos:exactMatch UMLS:C3150154 semapv:UnspecifiedMatching DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb skos:exactMatch UMLS:C4273657 semapv:UnspecifiedMatching -DOID:0070516 Mitchell syndrome oboInOwl:hasDbXref OMIM:618960 semapv:UnspecifiedMatching DOID:0070516 Mitchell syndrome oboInOwl:hasDbXref ORDO:631248 semapv:UnspecifiedMatching DOID:0070516 Mitchell syndrome oboInOwl:hasDbXref UMLS:C5394554 semapv:UnspecifiedMatching -DOID:0070516 Mitchell syndrome skos:exactMatch OMIM:618960 semapv:UnspecifiedMatching -DOID:0070516 Mitchell syndrome skos:exactMatch OMIM:618960 semapv:UnspecifiedMatching DOID:0070516 Mitchell syndrome skos:exactMatch ORDO:631248 semapv:UnspecifiedMatching DOID:0070516 Mitchell syndrome skos:exactMatch UMLS:C5394554 semapv:UnspecifiedMatching DOID:0070517 retinal macular dystrophy 2 oboInOwl:hasDbXref MESH:C562746 semapv:UnspecifiedMatching -DOID:0070517 retinal macular dystrophy 2 oboInOwl:hasDbXref OMIM:608051 semapv:UnspecifiedMatching DOID:0070517 retinal macular dystrophy 2 oboInOwl:hasDbXref ORDO:319640 semapv:UnspecifiedMatching DOID:0070517 retinal macular dystrophy 2 oboInOwl:hasDbXref UMLS:C4749334 semapv:UnspecifiedMatching DOID:0070517 retinal macular dystrophy 2 skos:exactMatch MESH:C562746 semapv:UnspecifiedMatching -DOID:0070517 retinal macular dystrophy 2 skos:exactMatch OMIM:608051 semapv:UnspecifiedMatching -DOID:0070517 retinal macular dystrophy 2 skos:exactMatch OMIM:608051 semapv:UnspecifiedMatching DOID:0070517 retinal macular dystrophy 2 skos:exactMatch ORDO:319640 semapv:UnspecifiedMatching DOID:0070517 retinal macular dystrophy 2 skos:exactMatch SNOMEDCT_US_2020_03_01:770594005 semapv:UnspecifiedMatching DOID:0070517 retinal macular dystrophy 2 skos:exactMatch UMLS:C4749334 semapv:UnspecifiedMatching DOID:0070518 familial multiple lipomatosis oboInOwl:hasDbXref GARD:12925 semapv:UnspecifiedMatching DOID:0070518 familial multiple lipomatosis oboInOwl:hasDbXref MESH:D000071070 semapv:UnspecifiedMatching -DOID:0070518 familial multiple lipomatosis oboInOwl:hasDbXref OMIM:151900 semapv:UnspecifiedMatching DOID:0070518 familial multiple lipomatosis oboInOwl:hasDbXref ORDO:199276 semapv:UnspecifiedMatching DOID:0070518 familial multiple lipomatosis oboInOwl:hasDbXref UMLS:C1275273 semapv:UnspecifiedMatching DOID:0070518 familial multiple lipomatosis skos:exactMatch GARD:12925 semapv:UnspecifiedMatching DOID:0070518 familial multiple lipomatosis skos:exactMatch MESH:D000071070 semapv:UnspecifiedMatching -DOID:0070518 familial multiple lipomatosis skos:exactMatch OMIM:151900 semapv:UnspecifiedMatching -DOID:0070518 familial multiple lipomatosis skos:exactMatch OMIM:151900 semapv:UnspecifiedMatching DOID:0070518 familial multiple lipomatosis skos:exactMatch ORDO:199276 semapv:UnspecifiedMatching DOID:0070518 familial multiple lipomatosis skos:exactMatch UMLS:C1275273 semapv:UnspecifiedMatching -DOID:0070519 early-onset vitamin B6-dependent epilepsy 4 oboInOwl:hasDbXref OMIM:266100 semapv:UnspecifiedMatching -DOID:0070519 early-onset vitamin B6-dependent epilepsy 4 skos:exactMatch OMIM:266100 semapv:UnspecifiedMatching -DOID:0070519 early-onset vitamin B6-dependent epilepsy 4 skos:exactMatch OMIM:266100 semapv:UnspecifiedMatching -DOID:0070520 peeling skin syndrome 1 oboInOwl:hasDbXref OMIM:270300 semapv:UnspecifiedMatching DOID:0070520 peeling skin syndrome 1 oboInOwl:hasDbXref ORDO:263553 semapv:UnspecifiedMatching DOID:0070520 peeling skin syndrome 1 oboInOwl:hasDbXref UMLS:C5679693 semapv:UnspecifiedMatching DOID:0070520 peeling skin syndrome 1 oboInOwl:hasDbXref UMLS:C5768235 semapv:UnspecifiedMatching -DOID:0070520 peeling skin syndrome 1 skos:exactMatch OMIM:270300 semapv:UnspecifiedMatching -DOID:0070520 peeling skin syndrome 1 skos:exactMatch OMIM:270300 semapv:UnspecifiedMatching DOID:0070520 peeling skin syndrome 1 skos:exactMatch ORDO:263553 semapv:UnspecifiedMatching DOID:0070520 peeling skin syndrome 1 skos:exactMatch UMLS:C5679693 semapv:UnspecifiedMatching DOID:0070520 peeling skin syndrome 1 skos:exactMatch UMLS:C5768235 semapv:UnspecifiedMatching DOID:0070521 peeling skin syndrome 2 oboInOwl:hasDbXref GARD:12863 semapv:UnspecifiedMatching DOID:0070521 peeling skin syndrome 2 oboInOwl:hasDbXref MESH:C536316 semapv:UnspecifiedMatching -DOID:0070521 peeling skin syndrome 2 oboInOwl:hasDbXref OMIM:609796 semapv:UnspecifiedMatching DOID:0070521 peeling skin syndrome 2 oboInOwl:hasDbXref ORDO:263534 semapv:UnspecifiedMatching DOID:0070521 peeling skin syndrome 2 oboInOwl:hasDbXref UMLS:C1853354 semapv:UnspecifiedMatching DOID:0070521 peeling skin syndrome 2 skos:exactMatch GARD:12863 semapv:UnspecifiedMatching DOID:0070521 peeling skin syndrome 2 skos:exactMatch MESH:C536316 semapv:UnspecifiedMatching -DOID:0070521 peeling skin syndrome 2 skos:exactMatch OMIM:609796 semapv:UnspecifiedMatching -DOID:0070521 peeling skin syndrome 2 skos:exactMatch OMIM:609796 semapv:UnspecifiedMatching DOID:0070521 peeling skin syndrome 2 skos:exactMatch ORDO:263534 semapv:UnspecifiedMatching DOID:0070521 peeling skin syndrome 2 skos:exactMatch SNOMEDCT_US_2020_03_01:709416009 semapv:UnspecifiedMatching DOID:0070521 peeling skin syndrome 2 skos:exactMatch UMLS:C1853354 semapv:UnspecifiedMatching -DOID:0070522 peeling skin syndrome 3 oboInOwl:hasDbXref OMIM:616265 semapv:UnspecifiedMatching DOID:0070522 peeling skin syndrome 3 skos:broadMatch ORDO:263548 semapv:UnspecifiedMatching -DOID:0070522 peeling skin syndrome 3 skos:exactMatch OMIM:616265 semapv:UnspecifiedMatching -DOID:0070522 peeling skin syndrome 3 skos:exactMatch OMIM:616265 semapv:UnspecifiedMatching DOID:0070523 peeling skin syndrome 4 oboInOwl:hasDbXref MESH:C564309 semapv:UnspecifiedMatching -DOID:0070523 peeling skin syndrome 4 oboInOwl:hasDbXref OMIM:607936 semapv:UnspecifiedMatching DOID:0070523 peeling skin syndrome 4 skos:exactMatch MESH:C564309 semapv:UnspecifiedMatching -DOID:0070523 peeling skin syndrome 4 skos:exactMatch OMIM:607936 semapv:UnspecifiedMatching -DOID:0070523 peeling skin syndrome 4 skos:exactMatch OMIM:607936 semapv:UnspecifiedMatching -DOID:0070524 peeling skin syndrome 5 oboInOwl:hasDbXref OMIM:617115 semapv:UnspecifiedMatching -DOID:0070524 peeling skin syndrome 5 skos:exactMatch OMIM:617115 semapv:UnspecifiedMatching -DOID:0070524 peeling skin syndrome 5 skos:exactMatch OMIM:617115 semapv:UnspecifiedMatching -DOID:0070525 peeling skin syndrome 6 oboInOwl:hasDbXref OMIM:618084 semapv:UnspecifiedMatching DOID:0070525 peeling skin syndrome 6 skos:broadMatch ORDO:263548 semapv:UnspecifiedMatching -DOID:0070525 peeling skin syndrome 6 skos:exactMatch OMIM:618084 semapv:UnspecifiedMatching -DOID:0070525 peeling skin syndrome 6 skos:exactMatch OMIM:618084 semapv:UnspecifiedMatching -DOID:0070526 PLACK syndrome oboInOwl:hasDbXref OMIM:616295 semapv:UnspecifiedMatching DOID:0070526 PLACK syndrome oboInOwl:hasDbXref ORDO:444138 semapv:UnspecifiedMatching DOID:0070526 PLACK syndrome oboInOwl:hasDbXref UMLS:C4225381 semapv:UnspecifiedMatching -DOID:0070526 PLACK syndrome skos:exactMatch OMIM:616295 semapv:UnspecifiedMatching -DOID:0070526 PLACK syndrome skos:exactMatch OMIM:616295 semapv:UnspecifiedMatching DOID:0070526 PLACK syndrome skos:exactMatch ORDO:444138 semapv:UnspecifiedMatching DOID:0070526 PLACK syndrome skos:exactMatch SNOMEDCT_US_2020_03_01:1237509001 semapv:UnspecifiedMatching DOID:0070526 PLACK syndrome skos:exactMatch UMLS:C4225381 semapv:UnspecifiedMatching DOID:0070527 Borrelia miyamotoi disease oboInOwl:hasDbXref UMLS:C4076531 semapv:UnspecifiedMatching DOID:0070527 Borrelia miyamotoi disease skos:exactMatch SNOMEDCT_US_2020_03_01:713014002 semapv:UnspecifiedMatching DOID:0070527 Borrelia miyamotoi disease skos:exactMatch UMLS:C4076531 semapv:UnspecifiedMatching -DOID:0070529 Sifrim-Hitz-Weiss syndrome oboInOwl:hasDbXref OMIM:617159 semapv:UnspecifiedMatching DOID:0070529 Sifrim-Hitz-Weiss syndrome oboInOwl:hasDbXref ORDO:653712 semapv:UnspecifiedMatching -DOID:0070529 Sifrim-Hitz-Weiss syndrome skos:exactMatch OMIM:617159 semapv:UnspecifiedMatching -DOID:0070529 Sifrim-Hitz-Weiss syndrome skos:exactMatch OMIM:617159 semapv:UnspecifiedMatching DOID:0070529 Sifrim-Hitz-Weiss syndrome skos:exactMatch ORDO:653712 semapv:UnspecifiedMatching -DOID:0070530 foveal hypoplasia 1 oboInOwl:hasDbXref OMIM:136520 semapv:UnspecifiedMatching -DOID:0070530 foveal hypoplasia 1 skos:exactMatch OMIM:136520 semapv:UnspecifiedMatching -DOID:0070530 foveal hypoplasia 1 skos:exactMatch OMIM:136520 semapv:UnspecifiedMatching DOID:0070530 foveal hypoplasia 1 skos:narrowMatch GARD:406 semapv:UnspecifiedMatching DOID:0070530 foveal hypoplasia 1 skos:narrowMatch ORDO:2253 semapv:UnspecifiedMatching DOID:0070530 foveal hypoplasia 1 skos:narrowMatch UMLS:C2931644 semapv:UnspecifiedMatching -DOID:0070531 foveal hypoplasia 2 oboInOwl:hasDbXref OMIM:609218 semapv:UnspecifiedMatching DOID:0070531 foveal hypoplasia 2 oboInOwl:hasDbXref ORDO:397618 semapv:UnspecifiedMatching DOID:0070531 foveal hypoplasia 2 oboInOwl:hasDbXref UMLS:C5190596 semapv:UnspecifiedMatching -DOID:0070531 foveal hypoplasia 2 skos:exactMatch OMIM:609218 semapv:UnspecifiedMatching -DOID:0070531 foveal hypoplasia 2 skos:exactMatch OMIM:609218 semapv:UnspecifiedMatching DOID:0070531 foveal hypoplasia 2 skos:exactMatch ORDO:397618 semapv:UnspecifiedMatching DOID:0070531 foveal hypoplasia 2 skos:exactMatch SNOMEDCT_US_2020_03_01:782754006 semapv:UnspecifiedMatching DOID:0070531 foveal hypoplasia 2 skos:exactMatch UMLS:C5190596 semapv:UnspecifiedMatching -DOID:0070532 aniridia 1 oboInOwl:hasDbXref OMIM:106210 semapv:UnspecifiedMatching -DOID:0070532 aniridia 1 skos:exactMatch OMIM:106210 semapv:UnspecifiedMatching -DOID:0070532 aniridia 1 skos:exactMatch OMIM:106210 semapv:UnspecifiedMatching -DOID:0070533 long QT syndrome 16 oboInOwl:hasDbXref OMIM:618782 semapv:UnspecifiedMatching -DOID:0070533 long QT syndrome 16 skos:exactMatch OMIM:618782 semapv:UnspecifiedMatching -DOID:0070533 long QT syndrome 16 skos:exactMatch OMIM:618782 semapv:UnspecifiedMatching DOID:0070534 arrhythmogenic left ventricular cardiomyopathy oboInOwl:hasDbXref ORDO:293888 semapv:UnspecifiedMatching DOID:0070535 arrhythmogenic biventricular cardiomyopathy oboInOwl:hasDbXref ORDO:293899 semapv:UnspecifiedMatching -DOID:0070536 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures oboInOwl:hasDbXref OMIM:620029 semapv:UnspecifiedMatching -DOID:0070536 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures skos:exactMatch OMIM:620029 semapv:UnspecifiedMatching -DOID:0070536 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures skos:exactMatch OMIM:620029 semapv:UnspecifiedMatching DOID:0070537 spastic tetraplegia, thin corpus callosum, and progressive microcephaly oboInOwl:hasDbXref GARD:13425 semapv:UnspecifiedMatching -DOID:0070537 spastic tetraplegia, thin corpus callosum, and progressive microcephaly oboInOwl:hasDbXref OMIM:616657 semapv:UnspecifiedMatching DOID:0070537 spastic tetraplegia, thin corpus callosum, and progressive microcephaly oboInOwl:hasDbXref ORDO:447997 semapv:UnspecifiedMatching DOID:0070537 spastic tetraplegia, thin corpus callosum, and progressive microcephaly oboInOwl:hasDbXref UMLS:C4225254 semapv:UnspecifiedMatching DOID:0070537 spastic tetraplegia, thin corpus callosum, and progressive microcephaly skos:exactMatch GARD:13425 semapv:UnspecifiedMatching -DOID:0070537 spastic tetraplegia, thin corpus callosum, and progressive microcephaly skos:exactMatch OMIM:616657 semapv:UnspecifiedMatching -DOID:0070537 spastic tetraplegia, thin corpus callosum, and progressive microcephaly skos:exactMatch OMIM:616657 semapv:UnspecifiedMatching DOID:0070537 spastic tetraplegia, thin corpus callosum, and progressive microcephaly skos:exactMatch ORDO:447997 semapv:UnspecifiedMatching DOID:0070537 spastic tetraplegia, thin corpus callosum, and progressive microcephaly skos:exactMatch UMLS:C4225254 semapv:UnspecifiedMatching DOID:0070538 syndromic X-linked intellectual developmental disorder bain type oboInOwl:hasDbXref GARD:13442 semapv:UnspecifiedMatching DOID:0070538 syndromic X-linked intellectual developmental disorder bain type oboInOwl:hasDbXref NCI:C183311 semapv:UnspecifiedMatching -DOID:0070538 syndromic X-linked intellectual developmental disorder bain type oboInOwl:hasDbXref OMIM:300986 semapv:UnspecifiedMatching DOID:0070538 syndromic X-linked intellectual developmental disorder bain type oboInOwl:hasDbXref UMLS:C4310814 semapv:UnspecifiedMatching DOID:0070538 syndromic X-linked intellectual developmental disorder bain type skos:exactMatch GARD:13442 semapv:UnspecifiedMatching DOID:0070538 syndromic X-linked intellectual developmental disorder bain type skos:exactMatch NCI:C183311 semapv:UnspecifiedMatching -DOID:0070538 syndromic X-linked intellectual developmental disorder bain type skos:exactMatch OMIM:300986 semapv:UnspecifiedMatching -DOID:0070538 syndromic X-linked intellectual developmental disorder bain type skos:exactMatch OMIM:300986 semapv:UnspecifiedMatching DOID:0070538 syndromic X-linked intellectual developmental disorder bain type skos:exactMatch UMLS:C4310814 semapv:UnspecifiedMatching -DOID:0070539 Halperin-Birk syndrome oboInOwl:hasDbXref OMIM:618651 semapv:UnspecifiedMatching -DOID:0070539 Halperin-Birk syndrome skos:exactMatch OMIM:618651 semapv:UnspecifiedMatching -DOID:0070539 Halperin-Birk syndrome skos:exactMatch OMIM:618651 semapv:UnspecifiedMatching +DOID:0070540 mitochondrial short-chain enoyl-CoA hydratase 1 deficiency oboInOwl:hasDbXref GARD:13019 semapv:UnspecifiedMatching +DOID:0070540 mitochondrial short-chain enoyl-CoA hydratase 1 deficiency oboInOwl:hasDbXref NCI:C174218 semapv:UnspecifiedMatching +DOID:0070540 mitochondrial short-chain enoyl-CoA hydratase 1 deficiency oboInOwl:hasDbXref ORDO:653880 semapv:UnspecifiedMatching +DOID:0070540 mitochondrial short-chain enoyl-CoA hydratase 1 deficiency oboInOwl:hasDbXref UMLS:C4225391 semapv:UnspecifiedMatching +DOID:0070540 mitochondrial short-chain enoyl-CoA hydratase 1 deficiency skos:exactMatch GARD:13019 semapv:UnspecifiedMatching +DOID:0070540 mitochondrial short-chain enoyl-CoA hydratase 1 deficiency skos:exactMatch NCI:C174218 semapv:UnspecifiedMatching +DOID:0070540 mitochondrial short-chain enoyl-CoA hydratase 1 deficiency skos:exactMatch ORDO:653880 semapv:UnspecifiedMatching +DOID:0070540 mitochondrial short-chain enoyl-CoA hydratase 1 deficiency skos:exactMatch UMLS:C4225391 semapv:UnspecifiedMatching +DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency oboInOwl:hasDbXref GARD:8387 semapv:UnspecifiedMatching +DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency oboInOwl:hasDbXref MESH:C538324 semapv:UnspecifiedMatching +DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency oboInOwl:hasDbXref NCI:C84523 semapv:UnspecifiedMatching +DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency oboInOwl:hasDbXref ORDO:20 semapv:UnspecifiedMatching +DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency oboInOwl:hasDbXref UMLS:C0268601 semapv:UnspecifiedMatching +DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency skos:exactMatch GARD:8387 semapv:UnspecifiedMatching +DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency skos:exactMatch MESH:C538324 semapv:UnspecifiedMatching +DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency skos:exactMatch NCI:C84523 semapv:UnspecifiedMatching +DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency skos:exactMatch ORDO:20 semapv:UnspecifiedMatching +DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency skos:exactMatch UMLS:C0268601 semapv:UnspecifiedMatching +DOID:0070542 neurodevelopmental disorder with spastic paraplegia and microcephaly oboInOwl:hasDbXref ORDO:477673 semapv:UnspecifiedMatching +DOID:0070542 neurodevelopmental disorder with spastic paraplegia and microcephaly oboInOwl:hasDbXref UMLS:C4225388 semapv:UnspecifiedMatching +DOID:0070542 neurodevelopmental disorder with spastic paraplegia and microcephaly oboInOwl:hasDbXref UMLS:C5567787 semapv:UnspecifiedMatching +DOID:0070542 neurodevelopmental disorder with spastic paraplegia and microcephaly skos:exactMatch ORDO:477673 semapv:UnspecifiedMatching +DOID:0070542 neurodevelopmental disorder with spastic paraplegia and microcephaly skos:exactMatch UMLS:C4225388 semapv:UnspecifiedMatching +DOID:0070542 neurodevelopmental disorder with spastic paraplegia and microcephaly skos:exactMatch UMLS:C5567787 semapv:UnspecifiedMatching +DOID:0070544 congenital glutamine deficiency oboInOwl:hasDbXref GARD:9848 semapv:UnspecifiedMatching +DOID:0070544 congenital glutamine deficiency oboInOwl:hasDbXref ORDO:71278 semapv:UnspecifiedMatching +DOID:0070544 congenital glutamine deficiency skos:exactMatch GARD:9848 semapv:UnspecifiedMatching +DOID:0070544 congenital glutamine deficiency skos:exactMatch ORDO:71278 semapv:UnspecifiedMatching DOID:0080001 bone disease oboInOwl:hasDbXref ICD10CM:M89.9 semapv:UnspecifiedMatching DOID:0080001 bone disease oboInOwl:hasDbXref MESH:D001847 semapv:UnspecifiedMatching DOID:0080001 bone disease oboInOwl:hasDbXref UMLS:C0005940 semapv:UnspecifiedMatching @@ -6386,140 +3436,60 @@ DOID:0080016 spina bifida oboInOwl:hasDbXref NCI:C101214 semapv:UnspecifiedMatch DOID:0080016 spina bifida oboInOwl:hasDbXref UMLS:C0080178 semapv:UnspecifiedMatching DOID:0080016 spina bifida skos:exactMatch MESH:D016135 semapv:UnspecifiedMatching DOID:0080016 spina bifida skos:exactMatch NCI:C101214 semapv:UnspecifiedMatching -DOID:0080019 metaphyseal dysplasia oboInOwl:hasDbXref OMIM:215050 semapv:UnspecifiedMatching -DOID:0080019 metaphyseal dysplasia skos:exactMatch OMIM:215050 semapv:UnspecifiedMatching -DOID:0080020 Jansen's metaphyseal chondrodysplasia oboInOwl:hasDbXref OMIM:156400 semapv:UnspecifiedMatching -DOID:0080020 Jansen's metaphyseal chondrodysplasia skos:exactMatch OMIM:156400 semapv:UnspecifiedMatching DOID:0080021 Schmid metaphyseal chondrodysplasia oboInOwl:hasDbXref GARD:7029 semapv:UnspecifiedMatching -DOID:0080021 Schmid metaphyseal chondrodysplasia oboInOwl:hasDbXref OMIM:156500 semapv:UnspecifiedMatching -DOID:0080021 Schmid metaphyseal chondrodysplasia skos:exactMatch OMIM:156500 semapv:UnspecifiedMatching -DOID:0080026 otospondylomegaepiphyseal dysplasia, autosomal recessive oboInOwl:hasDbXref OMIM:215150 semapv:UnspecifiedMatching -DOID:0080026 otospondylomegaepiphyseal dysplasia, autosomal recessive skos:exactMatch OMIM:215150 semapv:UnspecifiedMatching DOID:0080028 spondyloepimetaphyseal dysplasia, Strudwick type oboInOwl:hasDbXref GARD:134 semapv:UnspecifiedMatching -DOID:0080028 spondyloepimetaphyseal dysplasia, Strudwick type oboInOwl:hasDbXref OMIM:184250 semapv:UnspecifiedMatching DOID:0080028 spondyloepimetaphyseal dysplasia, Strudwick type oboInOwl:hasDbXref ORDO:93346 semapv:UnspecifiedMatching -DOID:0080028 spondyloepimetaphyseal dysplasia, Strudwick type skos:exactMatch OMIM:184250 semapv:UnspecifiedMatching -DOID:0080029 autosomal recessive spinocerebellar ataxia 16 oboInOwl:hasDbXref OMIM:615768 semapv:UnspecifiedMatching -DOID:0080029 autosomal recessive spinocerebellar ataxia 16 skos:exactMatch OMIM:615768 semapv:UnspecifiedMatching DOID:0080030 spondyloepimetaphyseal dysplasia, Missouri type oboInOwl:hasDbXref MESH:C566574 semapv:UnspecifiedMatching -DOID:0080030 spondyloepimetaphyseal dysplasia, Missouri type oboInOwl:hasDbXref OMIM:602111 semapv:UnspecifiedMatching -DOID:0080030 spondyloepimetaphyseal dysplasia, Missouri type skos:exactMatch OMIM:602111 semapv:UnspecifiedMatching DOID:0080031 fibrous dysplasia oboInOwl:hasDbXref GARD:6444 semapv:UnspecifiedMatching DOID:0080031 fibrous dysplasia oboInOwl:hasDbXref ICDO:8818/0 semapv:UnspecifiedMatching DOID:0080032 craniodiaphyseal dysplasia oboInOwl:hasDbXref GARD:1567 semapv:UnspecifiedMatching DOID:0080032 craniodiaphyseal dysplasia oboInOwl:hasDbXref MESH:C562940 semapv:UnspecifiedMatching -DOID:0080032 craniodiaphyseal dysplasia oboInOwl:hasDbXref OMIM:218300 semapv:UnspecifiedMatching DOID:0080032 craniodiaphyseal dysplasia skos:exactMatch MESH:C562940 semapv:UnspecifiedMatching -DOID:0080032 craniodiaphyseal dysplasia skos:exactMatch OMIM:218300 semapv:UnspecifiedMatching -DOID:0080033 craniometaphyseal dysplasia oboInOwl:hasDbXref OMIMPS:123000 semapv:UnspecifiedMatching DOID:0080033 craniometaphyseal dysplasia oboInOwl:hasDbXref ORDO:1522 semapv:UnspecifiedMatching -DOID:0080033 craniometaphyseal dysplasia skos:exactMatch OMIMPS:123000 semapv:UnspecifiedMatching -DOID:0080036 SOST-related sclerosing bone dysplasia oboInOwl:hasDbXref OMIM:239100 semapv:UnspecifiedMatching DOID:0080036 SOST-related sclerosing bone dysplasia oboInOwl:hasDbXref ORDO:3152 semapv:UnspecifiedMatching -DOID:0080036 SOST-related sclerosing bone dysplasia skos:exactMatch OMIM:239100 semapv:UnspecifiedMatching DOID:0080037 Worth syndrome oboInOwl:hasDbXref GARD:390 semapv:UnspecifiedMatching DOID:0080037 Worth syndrome oboInOwl:hasDbXref MESH:C536748 semapv:UnspecifiedMatching -DOID:0080037 Worth syndrome oboInOwl:hasDbXref OMIM:144750 semapv:UnspecifiedMatching DOID:0080037 Worth syndrome oboInOwl:hasDbXref ORDO:2790 semapv:UnspecifiedMatching DOID:0080037 Worth syndrome oboInOwl:hasDbXref UMLS:C0432273 semapv:UnspecifiedMatching -DOID:0080037 Worth syndrome skos:exactMatch OMIM:144750 semapv:UnspecifiedMatching DOID:0080038 pycnodysostosis oboInOwl:hasDbXref GARD:4611 semapv:UnspecifiedMatching DOID:0080038 pycnodysostosis oboInOwl:hasDbXref MESH:D058631 semapv:UnspecifiedMatching -DOID:0080038 pycnodysostosis oboInOwl:hasDbXref OMIM:265800 semapv:UnspecifiedMatching DOID:0080038 pycnodysostosis oboInOwl:hasDbXref ORDO:763 semapv:UnspecifiedMatching -DOID:0080038 pycnodysostosis skos:exactMatch OMIM:265800 semapv:UnspecifiedMatching DOID:0080039 axial osteomalacia oboInOwl:hasDbXref GARD:8431 semapv:UnspecifiedMatching DOID:0080039 axial osteomalacia oboInOwl:hasDbXref MESH:C537791 semapv:UnspecifiedMatching -DOID:0080039 axial osteomalacia oboInOwl:hasDbXref OMIM:109130 semapv:UnspecifiedMatching -DOID:0080039 axial osteomalacia skos:exactMatch OMIM:109130 semapv:UnspecifiedMatching DOID:0080041 hypochondroplasia oboInOwl:hasDbXref GARD:6724 semapv:UnspecifiedMatching DOID:0080041 hypochondroplasia oboInOwl:hasDbXref ICD10CM:Q77.4 semapv:UnspecifiedMatching DOID:0080041 hypochondroplasia oboInOwl:hasDbXref MESH:C562937 semapv:UnspecifiedMatching DOID:0080041 hypochondroplasia oboInOwl:hasDbXref NCI:C118697 semapv:UnspecifiedMatching -DOID:0080041 hypochondroplasia oboInOwl:hasDbXref OMIM:146000 semapv:UnspecifiedMatching DOID:0080041 hypochondroplasia oboInOwl:hasDbXref ORDO:429 semapv:UnspecifiedMatching DOID:0080041 hypochondroplasia oboInOwl:hasDbXref UMLS:C0410529 semapv:UnspecifiedMatching -DOID:0080041 hypochondroplasia skos:exactMatch OMIM:146000 semapv:UnspecifiedMatching -DOID:0080042 autosomal recessive spinocerebellar ataxia 18 oboInOwl:hasDbXref OMIM:616204 semapv:UnspecifiedMatching -DOID:0080042 autosomal recessive spinocerebellar ataxia 18 skos:exactMatch OMIM:616204 semapv:UnspecifiedMatching DOID:0080043 achondrogenesis oboInOwl:hasDbXref GARD:2882 semapv:UnspecifiedMatching DOID:0080043 achondrogenesis oboInOwl:hasDbXref MESH:C579878 semapv:UnspecifiedMatching -DOID:0080043 achondrogenesis oboInOwl:hasDbXref OMIMPS:200600 semapv:UnspecifiedMatching -DOID:0080043 achondrogenesis skos:exactMatch OMIMPS:200600 semapv:UnspecifiedMatching DOID:0080044 hypochondrogenesis oboInOwl:hasDbXref MESH:C563007 semapv:UnspecifiedMatching DOID:0080045 Kniest dysplasia oboInOwl:hasDbXref GARD:6841 semapv:UnspecifiedMatching DOID:0080045 Kniest dysplasia oboInOwl:hasDbXref MESH:C537207 semapv:UnspecifiedMatching -DOID:0080045 Kniest dysplasia oboInOwl:hasDbXref OMIM:156550 semapv:UnspecifiedMatching -DOID:0080045 Kniest dysplasia skos:exactMatch OMIM:156550 semapv:UnspecifiedMatching DOID:0080046 Stickler syndrome oboInOwl:hasDbXref GARD:10782 semapv:UnspecifiedMatching -DOID:0080046 Stickler syndrome oboInOwl:hasDbXref OMIMPS:108300 semapv:UnspecifiedMatching DOID:0080046 Stickler syndrome oboInOwl:hasDbXref ORDO:828 semapv:UnspecifiedMatching -DOID:0080046 Stickler syndrome skos:exactMatch OMIMPS:108300 semapv:UnspecifiedMatching DOID:0080047 pseudoachondroplasia oboInOwl:hasDbXref GARD:4540 semapv:UnspecifiedMatching DOID:0080047 pseudoachondroplasia oboInOwl:hasDbXref MESH:C535819 semapv:UnspecifiedMatching -DOID:0080047 pseudoachondroplasia oboInOwl:hasDbXref OMIM:177170 semapv:UnspecifiedMatching -DOID:0080047 pseudoachondroplasia skos:exactMatch OMIM:177170 semapv:UnspecifiedMatching DOID:0080049 acromesomelic dysplasia oboInOwl:hasDbXref GARD:6 semapv:UnspecifiedMatching DOID:0080049 acromesomelic dysplasia oboInOwl:hasDbXref MESH:C535658 semapv:UnspecifiedMatching DOID:0080049 acromesomelic dysplasia oboInOwl:hasDbXref ORDO:93437 semapv:UnspecifiedMatching DOID:0080050 acromesomelic dysplasia, Maroteaux type oboInOwl:hasDbXref GARD:507 semapv:UnspecifiedMatching DOID:0080050 acromesomelic dysplasia, Maroteaux type oboInOwl:hasDbXref MESH:C535661 semapv:UnspecifiedMatching -DOID:0080050 acromesomelic dysplasia, Maroteaux type oboInOwl:hasDbXref OMIM:602875 semapv:UnspecifiedMatching DOID:0080050 acromesomelic dysplasia, Maroteaux type oboInOwl:hasDbXref ORDO:40 semapv:UnspecifiedMatching -DOID:0080050 acromesomelic dysplasia, Maroteaux type skos:exactMatch OMIM:602875 semapv:UnspecifiedMatching DOID:0080051 acromesomelic dysplasia, Hunter-Thompson type oboInOwl:hasDbXref GARD:506 semapv:UnspecifiedMatching -DOID:0080051 acromesomelic dysplasia, Hunter-Thompson type oboInOwl:hasDbXref OMIM:201250 semapv:UnspecifiedMatching DOID:0080051 acromesomelic dysplasia, Hunter-Thompson type oboInOwl:hasDbXref ORDO:968 semapv:UnspecifiedMatching -DOID:0080051 acromesomelic dysplasia, Hunter-Thompson type skos:exactMatch OMIM:201250 semapv:UnspecifiedMatching DOID:0080052 acromesomelic dysplasia, Grebe type oboInOwl:hasDbXref GARD:1300 semapv:UnspecifiedMatching -DOID:0080052 acromesomelic dysplasia, Grebe type oboInOwl:hasDbXref OMIM:200700 semapv:UnspecifiedMatching DOID:0080052 acromesomelic dysplasia, Grebe type oboInOwl:hasDbXref ORDO:2098 semapv:UnspecifiedMatching -DOID:0080052 acromesomelic dysplasia, Grebe type skos:exactMatch OMIM:200700 semapv:UnspecifiedMatching DOID:0080053 Albright's hereditary osteodystrophy oboInOwl:hasDbXref GARD:5770 semapv:UnspecifiedMatching DOID:0080053 Albright's hereditary osteodystrophy oboInOwl:hasDbXref MESH:C537045 semapv:UnspecifiedMatching -DOID:0080053 Albright's hereditary osteodystrophy oboInOwl:hasDbXref OMIM:103580 semapv:UnspecifiedMatching -DOID:0080053 Albright's hereditary osteodystrophy skos:exactMatch OMIM:103580 semapv:UnspecifiedMatching DOID:0080054 achondrogenesis type IA oboInOwl:hasDbXref GARD:459 semapv:UnspecifiedMatching -DOID:0080054 achondrogenesis type IA oboInOwl:hasDbXref OMIM:200600 semapv:UnspecifiedMatching -DOID:0080054 achondrogenesis type IA skos:exactMatch OMIM:200600 semapv:UnspecifiedMatching DOID:0080055 achondrogenesis type IB oboInOwl:hasDbXref GARD:460 semapv:UnspecifiedMatching -DOID:0080055 achondrogenesis type IB oboInOwl:hasDbXref OMIM:600972 semapv:UnspecifiedMatching -DOID:0080055 achondrogenesis type IB skos:exactMatch OMIM:600972 semapv:UnspecifiedMatching DOID:0080056 achondrogenesis type II oboInOwl:hasDbXref GARD:8713 semapv:UnspecifiedMatching DOID:0080056 achondrogenesis type II oboInOwl:hasDbXref MESH:C536017 semapv:UnspecifiedMatching -DOID:0080056 achondrogenesis type II oboInOwl:hasDbXref OMIM:200610 semapv:UnspecifiedMatching -DOID:0080056 achondrogenesis type II skos:exactMatch OMIM:200610 semapv:UnspecifiedMatching -DOID:0080057 autosomal recessive spinocerebellar ataxia 15 oboInOwl:hasDbXref OMIM:615705 semapv:UnspecifiedMatching -DOID:0080057 autosomal recessive spinocerebellar ataxia 15 skos:exactMatch OMIM:615705 semapv:UnspecifiedMatching -DOID:0080058 autosomal recessive spinocerebellar ataxia 14 oboInOwl:hasDbXref OMIM:615386 semapv:UnspecifiedMatching -DOID:0080058 autosomal recessive spinocerebellar ataxia 14 skos:exactMatch OMIM:615386 semapv:UnspecifiedMatching DOID:0080059 autosomal recessive spinocerebellar ataxia 7 oboInOwl:hasDbXref GARD:12232 semapv:UnspecifiedMatching -DOID:0080059 autosomal recessive spinocerebellar ataxia 7 oboInOwl:hasDbXref OMIM:609270 semapv:UnspecifiedMatching -DOID:0080059 autosomal recessive spinocerebellar ataxia 7 skos:exactMatch OMIM:609270 semapv:UnspecifiedMatching -DOID:0080060 autosomal recessive spinocerebellar ataxia 12 oboInOwl:hasDbXref OMIM:614322 semapv:UnspecifiedMatching -DOID:0080060 autosomal recessive spinocerebellar ataxia 12 skos:exactMatch OMIM:614322 semapv:UnspecifiedMatching -DOID:0080061 autosomal recessive spinocerebellar ataxia 2 oboInOwl:hasDbXref OMIM:213200 semapv:UnspecifiedMatching -DOID:0080061 autosomal recessive spinocerebellar ataxia 2 skos:exactMatch OMIM:213200 semapv:UnspecifiedMatching -DOID:0080062 autosomal recessive spinocerebellar ataxia 13 oboInOwl:hasDbXref OMIM:614831 semapv:UnspecifiedMatching -DOID:0080062 autosomal recessive spinocerebellar ataxia 13 skos:exactMatch OMIM:614831 semapv:UnspecifiedMatching -DOID:0080063 autosomal recessive spinocerebellar ataxia 11 oboInOwl:hasDbXref OMIM:614229 semapv:UnspecifiedMatching -DOID:0080063 autosomal recessive spinocerebellar ataxia 11 skos:exactMatch OMIM:614229 semapv:UnspecifiedMatching -DOID:0080064 autosomal recessive spinocerebellar ataxia 17 oboInOwl:hasDbXref OMIM:616127 semapv:UnspecifiedMatching -DOID:0080064 autosomal recessive spinocerebellar ataxia 17 skos:exactMatch OMIM:616127 semapv:UnspecifiedMatching -DOID:0080065 autosomal recessive spinocerebellar ataxia 19 oboInOwl:hasDbXref OMIM:616291 semapv:UnspecifiedMatching -DOID:0080065 autosomal recessive spinocerebellar ataxia 19 skos:exactMatch OMIM:616291 semapv:UnspecifiedMatching -DOID:0080066 autosomal recessive spinocerebellar ataxia 20 oboInOwl:hasDbXref OMIM:616354 semapv:UnspecifiedMatching -DOID:0080066 autosomal recessive spinocerebellar ataxia 20 skos:exactMatch OMIM:616354 semapv:UnspecifiedMatching -DOID:0080067 Charcot-Marie-Tooth disease type 5 oboInOwl:hasDbXref OMIM:600361 semapv:UnspecifiedMatching -DOID:0080067 Charcot-Marie-Tooth disease type 5 skos:exactMatch OMIM:600361 semapv:UnspecifiedMatching -DOID:0080068 Charcot-Marie-Tooth disease type 6 oboInOwl:hasDbXref OMIM:601152 semapv:UnspecifiedMatching -DOID:0080068 Charcot-Marie-Tooth disease type 6 oboInOwl:hasDbXref OMIM:616505 semapv:UnspecifiedMatching DOID:0080070 mucolipidosis II alpha/beta oboInOwl:hasDbXref GARD:6749 semapv:UnspecifiedMatching -DOID:0080070 mucolipidosis II alpha/beta oboInOwl:hasDbXref OMIM:252500 semapv:UnspecifiedMatching -DOID:0080070 mucolipidosis II alpha/beta skos:exactMatch OMIM:252500 semapv:UnspecifiedMatching -DOID:0080071 mucolipidosis III alpha/beta oboInOwl:hasDbXref OMIM:252600 semapv:UnspecifiedMatching DOID:0080071 mucolipidosis III alpha/beta oboInOwl:hasDbXref ORDO:577 semapv:UnspecifiedMatching -DOID:0080071 mucolipidosis III alpha/beta skos:exactMatch OMIM:252600 semapv:UnspecifiedMatching DOID:0080072 intestinal pseudo-obstruction oboInOwl:hasDbXref GARD:12744 semapv:UnspecifiedMatching DOID:0080072 intestinal pseudo-obstruction oboInOwl:hasDbXref GARD:6789 semapv:UnspecifiedMatching DOID:0080072 intestinal pseudo-obstruction oboInOwl:hasDbXref MESH:D007418 semapv:UnspecifiedMatching @@ -6528,212 +3498,79 @@ DOID:0080072 intestinal pseudo-obstruction oboInOwl:hasDbXref ORDO:2978 semapv:U DOID:0080072 intestinal pseudo-obstruction oboInOwl:hasDbXref UMLS:C0021847 semapv:UnspecifiedMatching DOID:0080073 spina bifida occulta oboInOwl:hasDbXref MESH:D016136 semapv:UnspecifiedMatching DOID:0080074 neural tube defect oboInOwl:hasDbXref GARD:4016 semapv:UnspecifiedMatching -DOID:0080074 neural tube defect oboInOwl:hasDbXref OMIM:301410 semapv:UnspecifiedMatching -DOID:0080074 neural tube defect oboInOwl:hasDbXref OMIM:601634 semapv:UnspecifiedMatching -DOID:0080075 Neu-Laxova syndrome 2 oboInOwl:hasDbXref OMIM:616038 semapv:UnspecifiedMatching -DOID:0080075 Neu-Laxova syndrome 2 skos:exactMatch OMIM:616038 semapv:UnspecifiedMatching -DOID:0080076 Neu-Laxova syndrome 1 oboInOwl:hasDbXref OMIM:256520 semapv:UnspecifiedMatching -DOID:0080076 Neu-Laxova syndrome 1 skos:exactMatch OMIM:256520 semapv:UnspecifiedMatching DOID:0080077 hypophosphatemic nephrolithiasis/osteoporosis 1 oboInOwl:hasDbXref MESH:C567363 semapv:UnspecifiedMatching -DOID:0080077 hypophosphatemic nephrolithiasis/osteoporosis 1 oboInOwl:hasDbXref OMIM:612286 semapv:UnspecifiedMatching -DOID:0080077 hypophosphatemic nephrolithiasis/osteoporosis 1 skos:exactMatch OMIM:612286 semapv:UnspecifiedMatching DOID:0080078 hypophosphatemic nephrolithiasis/osteoporosis 2 oboInOwl:hasDbXref MESH:C567362 semapv:UnspecifiedMatching -DOID:0080078 hypophosphatemic nephrolithiasis/osteoporosis 2 oboInOwl:hasDbXref OMIM:612287 semapv:UnspecifiedMatching -DOID:0080078 hypophosphatemic nephrolithiasis/osteoporosis 2 skos:exactMatch OMIM:612287 semapv:UnspecifiedMatching -DOID:0080079 nonsyndromic congenital nail disorder 1 oboInOwl:hasDbXref OMIM:161050 semapv:UnspecifiedMatching DOID:0080079 nonsyndromic congenital nail disorder 1 oboInOwl:hasDbXref ORDO:280654 semapv:UnspecifiedMatching DOID:0080079 nonsyndromic congenital nail disorder 1 oboInOwl:hasDbXref ORDO:79153 semapv:UnspecifiedMatching -DOID:0080079 nonsyndromic congenital nail disorder 1 skos:exactMatch OMIM:161050 semapv:UnspecifiedMatching -DOID:0080080 nonsyndromic congenital nail disorder 2 oboInOwl:hasDbXref OMIM:149300 semapv:UnspecifiedMatching -DOID:0080080 nonsyndromic congenital nail disorder 2 skos:exactMatch OMIM:149300 semapv:UnspecifiedMatching -DOID:0080081 nonsyndromic congenital nail disorder 3 oboInOwl:hasDbXref OMIM:151600 semapv:UnspecifiedMatching -DOID:0080081 nonsyndromic congenital nail disorder 3 skos:exactMatch OMIM:151600 semapv:UnspecifiedMatching DOID:0080082 nonsyndromic congenital nail disorder 4 oboInOwl:hasDbXref GARD:12930 semapv:UnspecifiedMatching DOID:0080082 nonsyndromic congenital nail disorder 4 oboInOwl:hasDbXref MESH:C536377 semapv:UnspecifiedMatching -DOID:0080082 nonsyndromic congenital nail disorder 4 oboInOwl:hasDbXref OMIM:206800 semapv:UnspecifiedMatching -DOID:0080082 nonsyndromic congenital nail disorder 4 skos:exactMatch OMIM:206800 semapv:UnspecifiedMatching -DOID:0080083 nonsyndromic congenital nail disorder 5 oboInOwl:hasDbXref OMIM:164800 semapv:UnspecifiedMatching -DOID:0080083 nonsyndromic congenital nail disorder 5 skos:exactMatch OMIM:164800 semapv:UnspecifiedMatching -DOID:0080084 nonsyndromic congenital nail disorder 6 oboInOwl:hasDbXref OMIM:107000 semapv:UnspecifiedMatching -DOID:0080084 nonsyndromic congenital nail disorder 6 skos:exactMatch OMIM:107000 semapv:UnspecifiedMatching -DOID:0080085 nonsyndromic congenital nail disorder 7 oboInOwl:hasDbXref OMIM:605779 semapv:UnspecifiedMatching -DOID:0080085 nonsyndromic congenital nail disorder 7 skos:exactMatch OMIM:605779 semapv:UnspecifiedMatching -DOID:0080086 nonsyndromic congenital nail disorder 8 oboInOwl:hasDbXref OMIM:607523 semapv:UnspecifiedMatching -DOID:0080086 nonsyndromic congenital nail disorder 8 skos:exactMatch OMIM:607523 semapv:UnspecifiedMatching -DOID:0080087 nonsyndromic congenital nail disorder 9 oboInOwl:hasDbXref OMIM:614149 semapv:UnspecifiedMatching -DOID:0080087 nonsyndromic congenital nail disorder 9 skos:exactMatch OMIM:614149 semapv:UnspecifiedMatching DOID:0080089 tubular aggregate myopathy 1 oboInOwl:hasDbXref GARD:3884 semapv:UnspecifiedMatching -DOID:0080089 tubular aggregate myopathy 1 oboInOwl:hasDbXref OMIM:160565 semapv:UnspecifiedMatching -DOID:0080089 tubular aggregate myopathy 1 skos:exactMatch OMIM:160565 semapv:UnspecifiedMatching DOID:0080089 tubular aggregate myopathy 1 skos:narrowMatch ORDO:2593 semapv:UnspecifiedMatching DOID:0080090 reducing body myopathy 1A oboInOwl:hasDbXref GARD:12162 semapv:UnspecifiedMatching -DOID:0080090 reducing body myopathy 1A oboInOwl:hasDbXref OMIM:300717 semapv:UnspecifiedMatching -DOID:0080090 reducing body myopathy 1A skos:exactMatch OMIM:300717 semapv:UnspecifiedMatching DOID:0080092 myofibrillar myopathy 1 oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching -DOID:0080092 myofibrillar myopathy 1 oboInOwl:hasDbXref OMIM:601419 semapv:UnspecifiedMatching DOID:0080092 myofibrillar myopathy 1 oboInOwl:hasDbXref ORDO:363543 semapv:UnspecifiedMatching -DOID:0080092 myofibrillar myopathy 1 skos:exactMatch OMIM:601419 semapv:UnspecifiedMatching -DOID:0080093 myofibrillar myopathy 2 oboInOwl:hasDbXref OMIM:608810 semapv:UnspecifiedMatching DOID:0080093 myofibrillar myopathy 2 oboInOwl:hasDbXref ORDO:399058 semapv:UnspecifiedMatching -DOID:0080093 myofibrillar myopathy 2 skos:exactMatch OMIM:608810 semapv:UnspecifiedMatching DOID:0080094 myofibrillar myopathy 3 oboInOwl:hasDbXref GARD:10229 semapv:UnspecifiedMatching DOID:0080094 myofibrillar myopathy 3 oboInOwl:hasDbXref GARD:8711 semapv:UnspecifiedMatching DOID:0080094 myofibrillar myopathy 3 oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching DOID:0080094 myofibrillar myopathy 3 oboInOwl:hasDbXref MESH:C000598645 semapv:UnspecifiedMatching DOID:0080094 myofibrillar myopathy 3 oboInOwl:hasDbXref MESH:C535906 semapv:UnspecifiedMatching -DOID:0080094 myofibrillar myopathy 3 oboInOwl:hasDbXref OMIM:609200 semapv:UnspecifiedMatching DOID:0080094 myofibrillar myopathy 3 oboInOwl:hasDbXref ORDO:266 semapv:UnspecifiedMatching DOID:0080094 myofibrillar myopathy 3 oboInOwl:hasDbXref ORDO:268129 semapv:UnspecifiedMatching -DOID:0080094 myofibrillar myopathy 3 skos:exactMatch OMIM:609200 semapv:UnspecifiedMatching -DOID:0080095 myofibrillar myopathy 4 oboInOwl:hasDbXref OMIM:609452 semapv:UnspecifiedMatching -DOID:0080095 myofibrillar myopathy 4 skos:exactMatch OMIM:609452 semapv:UnspecifiedMatching -DOID:0080096 myofibrillar myopathy 5 oboInOwl:hasDbXref OMIM:609524 semapv:UnspecifiedMatching -DOID:0080096 myofibrillar myopathy 5 skos:exactMatch OMIM:609524 semapv:UnspecifiedMatching -DOID:0080097 myofibrillar myopathy 6 oboInOwl:hasDbXref OMIM:612954 semapv:UnspecifiedMatching -DOID:0080097 myofibrillar myopathy 6 skos:exactMatch OMIM:612954 semapv:UnspecifiedMatching -DOID:0080098 myofibrillar myopathy 7 oboInOwl:hasDbXref OMIM:617114 semapv:UnspecifiedMatching -DOID:0080098 myofibrillar myopathy 7 skos:exactMatch OMIM:617114 semapv:UnspecifiedMatching DOID:0080099 myopathy, lactic acidosis, and sideroblastic anemia oboInOwl:hasDbXref ORDO:2598 semapv:UnspecifiedMatching -DOID:0080101 Compton-North congenital myopathy oboInOwl:hasDbXref OMIM:612540 semapv:UnspecifiedMatching DOID:0080101 Compton-North congenital myopathy oboInOwl:hasDbXref ORDO:210163 semapv:UnspecifiedMatching -DOID:0080101 Compton-North congenital myopathy skos:exactMatch OMIM:612540 semapv:UnspecifiedMatching -DOID:0080102 congenital myopathy 4A oboInOwl:hasDbXref OMIM:255310 semapv:UnspecifiedMatching -DOID:0080102 congenital myopathy 4A skos:exactMatch OMIM:255310 semapv:UnspecifiedMatching DOID:0080103 cylindrical spirals myopathy oboInOwl:hasDbXref GARD:11906 semapv:UnspecifiedMatching -DOID:0080103 cylindrical spirals myopathy oboInOwl:hasDbXref OMIM:160990 semapv:UnspecifiedMatching -DOID:0080103 cylindrical spirals myopathy skos:exactMatch OMIM:160990 semapv:UnspecifiedMatching -DOID:0080105 microcephaly and chorioretinopathy 1 oboInOwl:hasDbXref OMIM:251270 semapv:UnspecifiedMatching -DOID:0080105 microcephaly and chorioretinopathy 1 skos:exactMatch OMIM:251270 semapv:UnspecifiedMatching -DOID:0080106 microcephaly and chorioretinopathy 2 oboInOwl:hasDbXref OMIM:616171 semapv:UnspecifiedMatching -DOID:0080106 microcephaly and chorioretinopathy 2 skos:exactMatch OMIM:616171 semapv:UnspecifiedMatching -DOID:0080107 microcephaly and chorioretinopathy 3 oboInOwl:hasDbXref OMIM:616335 semapv:UnspecifiedMatching -DOID:0080107 microcephaly and chorioretinopathy 3 skos:exactMatch OMIM:616335 semapv:UnspecifiedMatching DOID:0080108 myoglobinuria oboInOwl:hasDbXref MESH:D009212 semapv:UnspecifiedMatching -DOID:0080108 myoglobinuria oboInOwl:hasDbXref OMIM:160010 semapv:UnspecifiedMatching -DOID:0080108 myoglobinuria oboInOwl:hasDbXref OMIM:268200 semapv:UnspecifiedMatching -DOID:0080108 myoglobinuria oboInOwl:hasDbXref OMIM:550500 semapv:UnspecifiedMatching DOID:0080109 infantile myofibromatosis oboInOwl:hasDbXref GARD:2998 semapv:UnspecifiedMatching -DOID:0080109 infantile myofibromatosis oboInOwl:hasDbXref OMIM:228550 semapv:UnspecifiedMatching -DOID:0080109 infantile myofibromatosis oboInOwl:hasDbXref OMIM:615293 semapv:UnspecifiedMatching DOID:0080109 infantile myofibromatosis oboInOwl:hasDbXref ORDO:2591 semapv:UnspecifiedMatching DOID:0080110 contractures, pterygia, and spondylocarpotarsal fusion syndrome oboInOwl:hasDbXref MESH:C537377 semapv:UnspecifiedMatching -DOID:0080110 contractures, pterygia, and spondylocarpotarsal fusion syndrome oboInOwl:hasDbXref OMIM:253290 semapv:UnspecifiedMatching -DOID:0080110 contractures, pterygia, and spondylocarpotarsal fusion syndrome oboInOwl:hasDbXref OMIM:265000 semapv:UnspecifiedMatching -DOID:0080110 contractures, pterygia, and spondylocarpotarsal fusion syndrome oboInOwl:hasDbXref OMIM:312150 semapv:UnspecifiedMatching -DOID:0080110 contractures, pterygia, and spondylocarpotarsal fusion syndrome oboInOwl:hasDbXref OMIMPS:178110 semapv:UnspecifiedMatching -DOID:0080111 mitochondrial complex III deficiency nuclear type 1 oboInOwl:hasDbXref OMIM:124000 semapv:UnspecifiedMatching -DOID:0080111 mitochondrial complex III deficiency nuclear type 1 skos:exactMatch OMIM:124000 semapv:UnspecifiedMatching -DOID:0080112 mitochondrial complex III deficiency nuclear type 3 oboInOwl:hasDbXref OMIM:615158 semapv:UnspecifiedMatching -DOID:0080112 mitochondrial complex III deficiency nuclear type 3 skos:exactMatch OMIM:615158 semapv:UnspecifiedMatching -DOID:0080113 mitochondrial complex III deficiency nuclear type 4 oboInOwl:hasDbXref OMIM:615159 semapv:UnspecifiedMatching -DOID:0080113 mitochondrial complex III deficiency nuclear type 4 skos:exactMatch OMIM:615159 semapv:UnspecifiedMatching -DOID:0080114 mitochondrial complex III deficiency nuclear type 5 oboInOwl:hasDbXref OMIM:615160 semapv:UnspecifiedMatching -DOID:0080114 mitochondrial complex III deficiency nuclear type 5 skos:exactMatch OMIM:615160 semapv:UnspecifiedMatching -DOID:0080115 mitochondrial complex III deficiency nuclear type 6 oboInOwl:hasDbXref OMIM:615453 semapv:UnspecifiedMatching -DOID:0080115 mitochondrial complex III deficiency nuclear type 6 skos:exactMatch OMIM:615453 semapv:UnspecifiedMatching -DOID:0080116 mitochondrial complex III deficiency nuclear type 7 oboInOwl:hasDbXref OMIM:615824 semapv:UnspecifiedMatching -DOID:0080116 mitochondrial complex III deficiency nuclear type 7 skos:exactMatch OMIM:615824 semapv:UnspecifiedMatching -DOID:0080117 mitochondrial complex III deficiency nuclear type 8 oboInOwl:hasDbXref OMIM:615838 semapv:UnspecifiedMatching -DOID:0080117 mitochondrial complex III deficiency nuclear type 8 skos:exactMatch OMIM:615838 semapv:UnspecifiedMatching -DOID:0080118 mitochondrial complex III deficiency nuclear type 9 oboInOwl:hasDbXref OMIM:616111 semapv:UnspecifiedMatching -DOID:0080118 mitochondrial complex III deficiency nuclear type 9 skos:exactMatch OMIM:616111 semapv:UnspecifiedMatching DOID:0080119 mitochondrial DNA depletion syndrome 1 oboInOwl:hasDbXref GARD:9920 semapv:UnspecifiedMatching DOID:0080119 mitochondrial DNA depletion syndrome 1 oboInOwl:hasDbXref MESH:C536350 semapv:UnspecifiedMatching DOID:0080119 mitochondrial DNA depletion syndrome 1 oboInOwl:hasDbXref NCI:C11967 semapv:UnspecifiedMatching -DOID:0080119 mitochondrial DNA depletion syndrome 1 oboInOwl:hasDbXref OMIM:603041 semapv:UnspecifiedMatching DOID:0080119 mitochondrial DNA depletion syndrome 1 oboInOwl:hasDbXref ORDO:298 semapv:UnspecifiedMatching -DOID:0080119 mitochondrial DNA depletion syndrome 1 skos:exactMatch OMIM:603041 semapv:UnspecifiedMatching DOID:0080120 mitochondrial DNA depletion syndrome 2 oboInOwl:hasDbXref MESH:C563698 semapv:UnspecifiedMatching -DOID:0080120 mitochondrial DNA depletion syndrome 2 oboInOwl:hasDbXref OMIM:609560 semapv:UnspecifiedMatching DOID:0080120 mitochondrial DNA depletion syndrome 2 oboInOwl:hasDbXref ORDO:254875 semapv:UnspecifiedMatching -DOID:0080120 mitochondrial DNA depletion syndrome 2 skos:exactMatch OMIM:609560 semapv:UnspecifiedMatching DOID:0080121 mitochondrial DNA depletion syndrome 3 oboInOwl:hasDbXref GARD:13644 semapv:UnspecifiedMatching DOID:0080121 mitochondrial DNA depletion syndrome 3 oboInOwl:hasDbXref MESH:C580039 semapv:UnspecifiedMatching -DOID:0080121 mitochondrial DNA depletion syndrome 3 oboInOwl:hasDbXref OMIM:251880 semapv:UnspecifiedMatching DOID:0080121 mitochondrial DNA depletion syndrome 3 oboInOwl:hasDbXref ORDO:279934 semapv:UnspecifiedMatching -DOID:0080121 mitochondrial DNA depletion syndrome 3 skos:exactMatch OMIM:251880 semapv:UnspecifiedMatching DOID:0080122 Alpers-Huttenlocher syndrome oboInOwl:hasDbXref GARD:5783 semapv:UnspecifiedMatching DOID:0080122 Alpers-Huttenlocher syndrome oboInOwl:hasDbXref ICD10CM:G31.81 semapv:UnspecifiedMatching DOID:0080122 Alpers-Huttenlocher syndrome oboInOwl:hasDbXref MESH:D002549 semapv:UnspecifiedMatching DOID:0080122 Alpers-Huttenlocher syndrome oboInOwl:hasDbXref NCI:C35257 semapv:UnspecifiedMatching -DOID:0080122 Alpers-Huttenlocher syndrome oboInOwl:hasDbXref OMIM:203700 semapv:UnspecifiedMatching DOID:0080122 Alpers-Huttenlocher syndrome oboInOwl:hasDbXref ORDO:726 semapv:UnspecifiedMatching DOID:0080122 Alpers-Huttenlocher syndrome oboInOwl:hasDbXref UMLS:C0205710 semapv:UnspecifiedMatching DOID:0080122 Alpers-Huttenlocher syndrome skos:exactMatch MESH:D002549 semapv:UnspecifiedMatching -DOID:0080122 Alpers-Huttenlocher syndrome skos:exactMatch OMIM:203700 semapv:UnspecifiedMatching -DOID:0080123 mitochondrial DNA depletion syndrome 4b oboInOwl:hasDbXref OMIM:613662 semapv:UnspecifiedMatching DOID:0080123 mitochondrial DNA depletion syndrome 4b oboInOwl:hasDbXref ORDO:298 semapv:UnspecifiedMatching -DOID:0080123 mitochondrial DNA depletion syndrome 4b skos:exactMatch OMIM:613662 semapv:UnspecifiedMatching DOID:0080124 mitochondrial DNA depletion syndrome 5 oboInOwl:hasDbXref MESH:C567624 semapv:UnspecifiedMatching DOID:0080124 mitochondrial DNA depletion syndrome 5 oboInOwl:hasDbXref MESH:C580473 semapv:UnspecifiedMatching -DOID:0080124 mitochondrial DNA depletion syndrome 5 oboInOwl:hasDbXref OMIM:612073 semapv:UnspecifiedMatching -DOID:0080124 mitochondrial DNA depletion syndrome 5 skos:exactMatch OMIM:612073 semapv:UnspecifiedMatching DOID:0080125 mitochondrial DNA depletion syndrome 6 oboInOwl:hasDbXref GARD:3972 semapv:UnspecifiedMatching DOID:0080125 mitochondrial DNA depletion syndrome 6 oboInOwl:hasDbXref MESH:C538344 semapv:UnspecifiedMatching -DOID:0080125 mitochondrial DNA depletion syndrome 6 oboInOwl:hasDbXref OMIM:256810 semapv:UnspecifiedMatching DOID:0080125 mitochondrial DNA depletion syndrome 6 oboInOwl:hasDbXref ORDO:255229 semapv:UnspecifiedMatching -DOID:0080125 mitochondrial DNA depletion syndrome 6 skos:exactMatch OMIM:256810 semapv:UnspecifiedMatching DOID:0080126 mitochondrial DNA depletion syndrome 7 oboInOwl:hasDbXref GARD:4062 semapv:UnspecifiedMatching DOID:0080126 mitochondrial DNA depletion syndrome 7 oboInOwl:hasDbXref MESH:C535523 semapv:UnspecifiedMatching -DOID:0080126 mitochondrial DNA depletion syndrome 7 oboInOwl:hasDbXref OMIM:271245 semapv:UnspecifiedMatching -DOID:0080126 mitochondrial DNA depletion syndrome 7 skos:exactMatch OMIM:271245 semapv:UnspecifiedMatching DOID:0080127 mitochondrial DNA depletion syndrome 8a oboInOwl:hasDbXref GARD:13200 semapv:UnspecifiedMatching DOID:0080127 mitochondrial DNA depletion syndrome 8a oboInOwl:hasDbXref MESH:C536350 semapv:UnspecifiedMatching -DOID:0080127 mitochondrial DNA depletion syndrome 8a oboInOwl:hasDbXref OMIM:612075 semapv:UnspecifiedMatching -DOID:0080127 mitochondrial DNA depletion syndrome 8a skos:exactMatch OMIM:612075 semapv:UnspecifiedMatching DOID:0080128 mitochondrial DNA depletion syndrome 9 oboInOwl:hasDbXref MESH:C580473 semapv:UnspecifiedMatching -DOID:0080128 mitochondrial DNA depletion syndrome 9 oboInOwl:hasDbXref OMIM:245400 semapv:UnspecifiedMatching DOID:0080128 mitochondrial DNA depletion syndrome 9 oboInOwl:hasDbXref ORDO:17 semapv:UnspecifiedMatching -DOID:0080128 mitochondrial DNA depletion syndrome 9 skos:exactMatch OMIM:245400 semapv:UnspecifiedMatching -DOID:0080129 mitochondrial DNA depletion syndrome 11 oboInOwl:hasDbXref OMIM:615084 semapv:UnspecifiedMatching DOID:0080129 mitochondrial DNA depletion syndrome 11 oboInOwl:hasDbXref ORDO:352447 semapv:UnspecifiedMatching -DOID:0080129 mitochondrial DNA depletion syndrome 11 skos:exactMatch OMIM:615084 semapv:UnspecifiedMatching DOID:0080130 mitochondrial DNA depletion syndrome 12a oboInOwl:hasDbXref NCI:C129977 semapv:UnspecifiedMatching -DOID:0080130 mitochondrial DNA depletion syndrome 12a oboInOwl:hasDbXref OMIM:617184 semapv:UnspecifiedMatching -DOID:0080130 mitochondrial DNA depletion syndrome 12a skos:exactMatch OMIM:617184 semapv:UnspecifiedMatching DOID:0080131 mitochondrial DNA depletion syndrome 13 oboInOwl:hasDbXref GARD:13298 semapv:UnspecifiedMatching -DOID:0080131 mitochondrial DNA depletion syndrome 13 oboInOwl:hasDbXref OMIM:615471 semapv:UnspecifiedMatching DOID:0080131 mitochondrial DNA depletion syndrome 13 oboInOwl:hasDbXref ORDO:369897 semapv:UnspecifiedMatching -DOID:0080131 mitochondrial DNA depletion syndrome 13 skos:exactMatch OMIM:615471 semapv:UnspecifiedMatching DOID:0080132 Sengers syndrome oboInOwl:hasDbXref GARD:1142 semapv:UnspecifiedMatching DOID:0080132 Sengers syndrome oboInOwl:hasDbXref MESH:C538280 semapv:UnspecifiedMatching -DOID:0080132 Sengers syndrome oboInOwl:hasDbXref OMIM:212350 semapv:UnspecifiedMatching DOID:0080132 Sengers syndrome oboInOwl:hasDbXref ORDO:1369 semapv:UnspecifiedMatching -DOID:0080132 Sengers syndrome skos:exactMatch OMIM:212350 semapv:UnspecifiedMatching DOID:0080133 multiple mitochondrial dysfunctions syndrome 1 oboInOwl:hasDbXref GARD:12632 semapv:UnspecifiedMatching -DOID:0080133 multiple mitochondrial dysfunctions syndrome 1 oboInOwl:hasDbXref OMIM:605711 semapv:UnspecifiedMatching DOID:0080133 multiple mitochondrial dysfunctions syndrome 1 oboInOwl:hasDbXref ORDO:401869 semapv:UnspecifiedMatching -DOID:0080133 multiple mitochondrial dysfunctions syndrome 1 skos:exactMatch OMIM:605711 semapv:UnspecifiedMatching DOID:0080134 multiple mitochondrial dysfunctions syndrome 2 oboInOwl:hasDbXref GARD:12632 semapv:UnspecifiedMatching -DOID:0080134 multiple mitochondrial dysfunctions syndrome 2 oboInOwl:hasDbXref OMIM:614299 semapv:UnspecifiedMatching DOID:0080134 multiple mitochondrial dysfunctions syndrome 2 oboInOwl:hasDbXref ORDO:401874 semapv:UnspecifiedMatching -DOID:0080134 multiple mitochondrial dysfunctions syndrome 2 skos:exactMatch OMIM:614299 semapv:UnspecifiedMatching -DOID:0080135 multiple mitochondrial dysfunctions syndrome 3 oboInOwl:hasDbXref OMIM:615330 semapv:UnspecifiedMatching DOID:0080135 multiple mitochondrial dysfunctions syndrome 3 oboInOwl:hasDbXref ORDO:363424 semapv:UnspecifiedMatching -DOID:0080135 multiple mitochondrial dysfunctions syndrome 3 skos:exactMatch OMIM:615330 semapv:UnspecifiedMatching -DOID:0080136 multiple mitochondrial dysfunctions syndrome 4 oboInOwl:hasDbXref OMIM:616370 semapv:UnspecifiedMatching DOID:0080136 multiple mitochondrial dysfunctions syndrome 4 oboInOwl:hasDbXref ORDO:457406 semapv:UnspecifiedMatching -DOID:0080136 multiple mitochondrial dysfunctions syndrome 4 skos:exactMatch OMIM:616370 semapv:UnspecifiedMatching DOID:0080137 multiple endocrine neoplasia type 4 oboInOwl:hasDbXref MESH:C567059 semapv:UnspecifiedMatching -DOID:0080137 multiple endocrine neoplasia type 4 oboInOwl:hasDbXref OMIM:610755 semapv:UnspecifiedMatching -DOID:0080137 multiple endocrine neoplasia type 4 skos:exactMatch OMIM:610755 semapv:UnspecifiedMatching -DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 oboInOwl:hasDbXref OMIM:614080 semapv:UnspecifiedMatching -DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 skos:exactMatch OMIM:614080 semapv:UnspecifiedMatching DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 oboInOwl:hasDbXref GARD:12777 semapv:UnspecifiedMatching -DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 oboInOwl:hasDbXref OMIM:300868 semapv:UnspecifiedMatching DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 oboInOwl:hasDbXref ORDO:300496 semapv:UnspecifiedMatching -DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 skos:exactMatch OMIM:300868 semapv:UnspecifiedMatching -DOID:0080140 multiple congenital anomalies-hypotonia-seizures syndrome 3 oboInOwl:hasDbXref OMIM:615398 semapv:UnspecifiedMatching -DOID:0080140 multiple congenital anomalies-hypotonia-seizures syndrome 3 skos:exactMatch OMIM:615398 semapv:UnspecifiedMatching -DOID:0080141 mosaic variegated aneuploidy syndrome 1 oboInOwl:hasDbXref OMIM:257300 semapv:UnspecifiedMatching -DOID:0080141 mosaic variegated aneuploidy syndrome 1 skos:exactMatch OMIM:257300 semapv:UnspecifiedMatching -DOID:0080142 mosaic variegated aneuploidy syndrome 2 oboInOwl:hasDbXref OMIM:614114 semapv:UnspecifiedMatching -DOID:0080142 mosaic variegated aneuploidy syndrome 2 skos:exactMatch OMIM:614114 semapv:UnspecifiedMatching DOID:0080143 congenital fibrosis of the extraocular muscles oboInOwl:hasDbXref GARD:12590 semapv:UnspecifiedMatching DOID:0080143 congenital fibrosis of the extraocular muscles oboInOwl:hasDbXref MESH:C580012 semapv:UnspecifiedMatching -DOID:0080143 congenital fibrosis of the extraocular muscles oboInOwl:hasDbXref OMIMPS:135700 semapv:UnspecifiedMatching DOID:0080143 congenital fibrosis of the extraocular muscles oboInOwl:hasDbXref ORDO:45358 semapv:UnspecifiedMatching -DOID:0080143 congenital fibrosis of the extraocular muscles skos:exactMatch OMIMPS:135700 semapv:UnspecifiedMatching DOID:0080144 childhood acute lymphocytic leukemia oboInOwl:hasDbXref NCI:C3168 semapv:UnspecifiedMatching DOID:0080145 childhood T-cell acute lymphoblastic leukemia oboInOwl:hasDbXref NCI:C5640 semapv:UnspecifiedMatching DOID:0080145 childhood T-cell acute lymphoblastic leukemia oboInOwl:hasDbXref UMLS:C1332997 semapv:UnspecifiedMatching @@ -6742,24 +3579,14 @@ DOID:0080147 lymphoblastic lymphoma oboInOwl:hasDbXref GARD:3329 semapv:Unspecif DOID:0080148 T-cell childhood lymphoblastic lymphoma oboInOwl:hasDbXref NCI:C7210 semapv:UnspecifiedMatching DOID:0080149 adult acute monocytic leukemia oboInOwl:hasDbXref NCI:C8263 semapv:UnspecifiedMatching DOID:0080150 adrenocorticotropic hormone deficiency oboInOwl:hasDbXref MESH:C535668 semapv:UnspecifiedMatching -DOID:0080150 adrenocorticotropic hormone deficiency oboInOwl:hasDbXref OMIM:201400 semapv:UnspecifiedMatching -DOID:0080150 adrenocorticotropic hormone deficiency skos:exactMatch OMIM:201400 semapv:UnspecifiedMatching DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref GARD:540 semapv:UnspecifiedMatching DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref MESH:C536038 semapv:UnspecifiedMatching -DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref OMIM:201450 semapv:UnspecifiedMatching DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ORDO:42 semapv:UnspecifiedMatching -DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency skos:exactMatch OMIM:201450 semapv:UnspecifiedMatching DOID:0080154 short chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref GARD:4822 semapv:UnspecifiedMatching -DOID:0080154 short chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref OMIM:201470 semapv:UnspecifiedMatching DOID:0080154 short chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ORDO:26792 semapv:UnspecifiedMatching -DOID:0080154 short chain acyl-CoA dehydrogenase deficiency skos:exactMatch OMIM:201470 semapv:UnspecifiedMatching DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref GARD:5508 semapv:UnspecifiedMatching -DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref OMIM:201475 semapv:UnspecifiedMatching DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ORDO:26793 semapv:UnspecifiedMatching -DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency skos:exactMatch OMIM:201475 semapv:UnspecifiedMatching DOID:0080156 X-linked adrenal hypoplasia congenita oboInOwl:hasDbXref GARD:555 semapv:UnspecifiedMatching -DOID:0080156 X-linked adrenal hypoplasia congenita oboInOwl:hasDbXref OMIM:300200 semapv:UnspecifiedMatching -DOID:0080156 X-linked adrenal hypoplasia congenita skos:exactMatch OMIM:300200 semapv:UnspecifiedMatching DOID:0080158 herpes simplex virus keratitis oboInOwl:hasDbXref MESH:D007635 semapv:UnspecifiedMatching DOID:0080158 herpes simplex virus keratitis oboInOwl:hasDbXref MESH:D016849 semapv:UnspecifiedMatching DOID:0080159 Cryptococcal meningitis oboInOwl:hasDbXref MESH:D016919 semapv:UnspecifiedMatching @@ -6769,8 +3596,6 @@ DOID:0080161 cutaneous candidiasis oboInOwl:hasDbXref MESH:D002179 semapv:Unspec DOID:0080162 lupus nephritis oboInOwl:hasDbXref GARD:10747 semapv:UnspecifiedMatching DOID:0080162 lupus nephritis oboInOwl:hasDbXref MESH:D008181 semapv:UnspecifiedMatching DOID:0080163 otulipenia oboInOwl:hasDbXref GARD:13198 semapv:UnspecifiedMatching -DOID:0080163 otulipenia oboInOwl:hasDbXref OMIM:617099 semapv:UnspecifiedMatching -DOID:0080163 otulipenia skos:exactMatch OMIM:617099 semapv:UnspecifiedMatching DOID:0080164 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 oboInOwl:hasDbXref NCI:C84270 semapv:UnspecifiedMatching DOID:0080164 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 oboInOwl:hasDbXref UMLS:C2827356 semapv:UnspecifiedMatching DOID:0080165 myeloid and lymphoid neoplasms associated with PDGFRA rearrangement oboInOwl:hasDbXref NCI:C84275 semapv:UnspecifiedMatching @@ -6778,29 +3603,15 @@ DOID:0080166 myeloid and lymphoid neoplasms associated with PDGFRB rearrangement DOID:0080167 myeloid and lymphoid neoplasms associated with FGFR1 abnormalities oboInOwl:hasDbXref NCI:C84277 semapv:UnspecifiedMatching DOID:0080169 tricuspid atresia oboInOwl:hasDbXref GARD:5274 semapv:UnspecifiedMatching DOID:0080169 tricuspid atresia oboInOwl:hasDbXref MESH:D018785 semapv:UnspecifiedMatching -DOID:0080169 tricuspid atresia oboInOwl:hasDbXref OMIM:605067 semapv:UnspecifiedMatching -DOID:0080169 tricuspid atresia skos:exactMatch OMIM:605067 semapv:UnspecifiedMatching DOID:0080170 normophosphatemic familial tumoral calcinosis oboInOwl:hasDbXref GARD:10878 semapv:UnspecifiedMatching -DOID:0080170 normophosphatemic familial tumoral calcinosis oboInOwl:hasDbXref OMIM:610455 semapv:UnspecifiedMatching -DOID:0080170 normophosphatemic familial tumoral calcinosis skos:exactMatch OMIM:610455 semapv:UnspecifiedMatching DOID:0080171 esophageal atresia/tracheoesophageal fistula oboInOwl:hasDbXref GARD:7792 semapv:UnspecifiedMatching -DOID:0080171 esophageal atresia/tracheoesophageal fistula oboInOwl:hasDbXref OMIM:189960 semapv:UnspecifiedMatching -DOID:0080171 esophageal atresia/tracheoesophageal fistula skos:exactMatch OMIM:189960 semapv:UnspecifiedMatching DOID:0080172 thiopurine S-methyltransferase deficiency oboInOwl:hasDbXref MESH:C536512 semapv:UnspecifiedMatching -DOID:0080172 thiopurine S-methyltransferase deficiency oboInOwl:hasDbXref OMIM:610460 semapv:UnspecifiedMatching -DOID:0080172 thiopurine S-methyltransferase deficiency skos:exactMatch OMIM:610460 semapv:UnspecifiedMatching -DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex oboInOwl:hasDbXref OMIM:258040 semapv:UnspecifiedMatching DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex oboInOwl:hasDbXref ORDO:322 semapv:UnspecifiedMatching -DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex skos:exactMatch OMIM:258040 semapv:UnspecifiedMatching DOID:0080174 bladder exstrophy oboInOwl:hasDbXref ICD10CM:Q64.10 semapv:UnspecifiedMatching DOID:0080174 bladder exstrophy oboInOwl:hasDbXref ICD9CM:753.5 semapv:UnspecifiedMatching DOID:0080174 bladder exstrophy oboInOwl:hasDbXref MESH:D001746 semapv:UnspecifiedMatching -DOID:0080174 bladder exstrophy oboInOwl:hasDbXref OMIM:600057 semapv:UnspecifiedMatching DOID:0080174 bladder exstrophy oboInOwl:hasDbXref ORDO:93930 semapv:UnspecifiedMatching -DOID:0080174 bladder exstrophy skos:exactMatch OMIM:600057 semapv:UnspecifiedMatching -DOID:0080175 cloacal exstrophy oboInOwl:hasDbXref OMIM:258040 semapv:UnspecifiedMatching DOID:0080175 cloacal exstrophy oboInOwl:hasDbXref ORDO:93929 semapv:UnspecifiedMatching -DOID:0080175 cloacal exstrophy skos:exactMatch OMIM:258040 semapv:UnspecifiedMatching DOID:0080176 meningococcal meningitis oboInOwl:hasDbXref ICD10CM:A39.0 semapv:UnspecifiedMatching DOID:0080176 meningococcal meningitis oboInOwl:hasDbXref ICD9CM:036.0 semapv:UnspecifiedMatching DOID:0080176 meningococcal meningitis oboInOwl:hasDbXref MESH:D008585 semapv:UnspecifiedMatching @@ -6812,9 +3623,7 @@ DOID:0080178 mucositis oboInOwl:hasDbXref MESH:D052016 semapv:UnspecifiedMatchin DOID:0080179 haemophilus meningitis oboInOwl:hasDbXref ICD10CM:G00.0 semapv:UnspecifiedMatching DOID:0080179 haemophilus meningitis oboInOwl:hasDbXref ICD9CM:320.0 semapv:UnspecifiedMatching DOID:0080179 haemophilus meningitis oboInOwl:hasDbXref MESH:D008583 semapv:UnspecifiedMatching -DOID:0080181 PHARC syndrome oboInOwl:hasDbXref OMIM:612674 semapv:UnspecifiedMatching DOID:0080181 PHARC syndrome oboInOwl:hasDbXref ORDO:171848 semapv:UnspecifiedMatching -DOID:0080181 PHARC syndrome skos:exactMatch OMIM:612674 semapv:UnspecifiedMatching DOID:0080187 chronic neutrophilic leukemia oboInOwl:hasDbXref ICDO:9963/3 semapv:UnspecifiedMatching DOID:0080187 chronic neutrophilic leukemia oboInOwl:hasDbXref NCI:C3179 semapv:UnspecifiedMatching DOID:0080188 chronic myelomonocytic leukemia oboInOwl:hasDbXref GARD:8225 semapv:UnspecifiedMatching @@ -6823,235 +3632,48 @@ DOID:0080188 chronic myelomonocytic leukemia oboInOwl:hasDbXref NCI:C3178 semapv DOID:0080190 malignant epithelioid hemangioendothelioma oboInOwl:hasDbXref NCI:C3800 semapv:UnspecifiedMatching DOID:0080191 PTEN hamartoma tumor syndrome oboInOwl:hasDbXref GARD:12800 semapv:UnspecifiedMatching DOID:0080193 superior semicircular canal dehiscence oboInOwl:hasDbXref ORDO:420402 semapv:UnspecifiedMatching -DOID:0080194 Carey-Fineman-Ziter syndrome oboInOwl:hasDbXref OMIM:254940 semapv:UnspecifiedMatching -DOID:0080194 Carey-Fineman-Ziter syndrome skos:exactMatch OMIM:254940 semapv:UnspecifiedMatching DOID:0080195 Marinesco-Sjogren syndrome oboInOwl:hasDbXref GARD:8341 semapv:UnspecifiedMatching -DOID:0080195 Marinesco-Sjogren syndrome oboInOwl:hasDbXref OMIM:248800 semapv:UnspecifiedMatching DOID:0080195 Marinesco-Sjogren syndrome oboInOwl:hasDbXref ORDO:559 semapv:UnspecifiedMatching -DOID:0080195 Marinesco-Sjogren syndrome skos:exactMatch OMIM:248800 semapv:UnspecifiedMatching DOID:0080196 mandibulofacial dysostosis, Guion-Almeida type oboInOwl:hasDbXref GARD:10056 semapv:UnspecifiedMatching -DOID:0080196 mandibulofacial dysostosis, Guion-Almeida type oboInOwl:hasDbXref OMIM:610536 semapv:UnspecifiedMatching DOID:0080196 mandibulofacial dysostosis, Guion-Almeida type oboInOwl:hasDbXref ORDO:79113 semapv:UnspecifiedMatching -DOID:0080196 mandibulofacial dysostosis, Guion-Almeida type skos:exactMatch OMIM:610536 semapv:UnspecifiedMatching -DOID:0080197 congenital muscular dystrophy with cataracts and intellectual disability oboInOwl:hasDbXref OMIM:617404 semapv:UnspecifiedMatching -DOID:0080197 congenital muscular dystrophy with cataracts and intellectual disability skos:exactMatch OMIM:617404 semapv:UnspecifiedMatching DOID:0080198 infantile histiocytoid cardiomyopathy oboInOwl:hasDbXref GARD:9511 semapv:UnspecifiedMatching -DOID:0080198 infantile histiocytoid cardiomyopathy oboInOwl:hasDbXref OMIM:500000 semapv:UnspecifiedMatching -DOID:0080198 infantile histiocytoid cardiomyopathy skos:exactMatch OMIM:500000 semapv:UnspecifiedMatching DOID:0080199 colorectal carcinoma oboInOwl:hasDbXref EFO:1001951 semapv:UnspecifiedMatching DOID:0080199 colorectal carcinoma oboInOwl:hasDbXref MESH:D015179 semapv:UnspecifiedMatching DOID:0080199 colorectal carcinoma oboInOwl:hasDbXref NCI:C2955 semapv:UnspecifiedMatching DOID:0080199 colorectal carcinoma oboInOwl:hasDbXref UMLS:C0009402 semapv:UnspecifiedMatching DOID:0080200 bilateral renal aplasia oboInOwl:hasDbXref ORDO:1848 semapv:UnspecifiedMatching DOID:0080201 Peters plus syndrome oboInOwl:hasDbXref GARD:8422 semapv:UnspecifiedMatching -DOID:0080201 Peters plus syndrome oboInOwl:hasDbXref OMIM:261540 semapv:UnspecifiedMatching -DOID:0080201 Peters plus syndrome skos:exactMatch OMIM:261540 semapv:UnspecifiedMatching DOID:0080202 adenoid cystic carcinoma oboInOwl:hasDbXref GARD:5743 semapv:UnspecifiedMatching DOID:0080202 adenoid cystic carcinoma oboInOwl:hasDbXref ICDO:8200/3 semapv:UnspecifiedMatching DOID:0080202 adenoid cystic carcinoma oboInOwl:hasDbXref MESH:D003528 semapv:UnspecifiedMatching DOID:0080202 adenoid cystic carcinoma oboInOwl:hasDbXref NCI:C2970 semapv:UnspecifiedMatching DOID:0080204 renal hypoplasia oboInOwl:hasDbXref ORDO:93101 semapv:UnspecifiedMatching DOID:0080205 CAKUT oboInOwl:hasDbXref MESH:C566906 semapv:UnspecifiedMatching -DOID:0080205 CAKUT oboInOwl:hasDbXref OMIMPS:610805 semapv:UnspecifiedMatching DOID:0080205 CAKUT oboInOwl:hasDbXref ORDO:93545 semapv:UnspecifiedMatching -DOID:0080205 CAKUT skos:exactMatch OMIMPS:610805 semapv:UnspecifiedMatching -DOID:0080206 CAKUT1 oboInOwl:hasDbXref OMIM:610805 semapv:UnspecifiedMatching -DOID:0080206 CAKUT1 skos:exactMatch OMIM:610805 semapv:UnspecifiedMatching -DOID:0080207 CAKUT2 oboInOwl:hasDbXref OMIM:143400 semapv:UnspecifiedMatching -DOID:0080207 CAKUT2 skos:exactMatch OMIM:143400 semapv:UnspecifiedMatching DOID:0080208 metabolic dysfunction-associated steatotic liver disease oboInOwl:hasDbXref MESH:D065626 semapv:UnspecifiedMatching -DOID:0080208 metabolic dysfunction-associated steatotic liver disease oboInOwl:hasDbXref OMIM:613282 semapv:UnspecifiedMatching -DOID:0080208 metabolic dysfunction-associated steatotic liver disease oboInOwl:hasDbXref OMIM:613387 semapv:UnspecifiedMatching -DOID:0080209 sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay oboInOwl:hasDbXref OMIM:616084 semapv:UnspecifiedMatching -DOID:0080209 sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay skos:exactMatch OMIM:616084 semapv:UnspecifiedMatching DOID:0080210 primary mediastinal B-cell lymphoma oboInOwl:hasDbXref ICD10CM:C85.2 semapv:UnspecifiedMatching DOID:0080210 primary mediastinal B-cell lymphoma oboInOwl:hasDbXref ORDO:98838 semapv:UnspecifiedMatching DOID:0080211 nodal marginal zone lymphoma oboInOwl:hasDbXref NCI:C8863 semapv:UnspecifiedMatching -DOID:0080212 polycystic kidney disease 4 oboInOwl:hasDbXref OMIM:263200 semapv:UnspecifiedMatching -DOID:0080212 polycystic kidney disease 4 skos:exactMatch OMIM:263200 semapv:UnspecifiedMatching DOID:0080213 punctate palmoplantar keratoderma type II oboInOwl:hasDbXref GARD:4439 semapv:UnspecifiedMatching -DOID:0080213 punctate palmoplantar keratoderma type II oboInOwl:hasDbXref OMIM:175860 semapv:UnspecifiedMatching -DOID:0080213 punctate palmoplantar keratoderma type II skos:exactMatch OMIM:175860 semapv:UnspecifiedMatching -DOID:0080214 punctate palmoplantar keratoderma type I oboInOwl:hasDbXref OMIM:148600 semapv:UnspecifiedMatching -DOID:0080214 punctate palmoplantar keratoderma type I oboInOwl:hasDbXref OMIM:614936 semapv:UnspecifiedMatching -DOID:0080215 developmental and epileptic encephalopathy 8 oboInOwl:hasDbXref OMIM:300607 semapv:UnspecifiedMatching -DOID:0080215 developmental and epileptic encephalopathy 8 skos:exactMatch OMIM:300607 semapv:UnspecifiedMatching DOID:0080216 duodenal atresia oboInOwl:hasDbXref GARD:54 semapv:UnspecifiedMatching DOID:0080216 duodenal atresia oboInOwl:hasDbXref MESH:C535720 semapv:UnspecifiedMatching -DOID:0080216 duodenal atresia oboInOwl:hasDbXref OMIM:223400 semapv:UnspecifiedMatching -DOID:0080216 duodenal atresia skos:exactMatch OMIM:223400 semapv:UnspecifiedMatching DOID:0080217 lysosomal acid lipase deficiency oboInOwl:hasDbXref GARD:12097 semapv:UnspecifiedMatching DOID:0080217 lysosomal acid lipase deficiency oboInOwl:hasDbXref ICD10CM:E75.5 semapv:UnspecifiedMatching -DOID:0080217 lysosomal acid lipase deficiency oboInOwl:hasDbXref OMIMPS:278000 semapv:UnspecifiedMatching DOID:0080217 lysosomal acid lipase deficiency oboInOwl:hasDbXref ORDO:275761 semapv:UnspecifiedMatching DOID:0080217 lysosomal acid lipase deficiency oboInOwl:hasDbXref UMLS:C5574740 semapv:UnspecifiedMatching DOID:0080217 lysosomal acid lipase deficiency skos:broadMatch ICD10CM:E75.5 semapv:UnspecifiedMatching DOID:0080217 lysosomal acid lipase deficiency skos:exactMatch GARD:12097 semapv:UnspecifiedMatching -DOID:0080217 lysosomal acid lipase deficiency skos:exactMatch OMIM:PS278000 semapv:UnspecifiedMatching -DOID:0080217 lysosomal acid lipase deficiency skos:exactMatch OMIMPS:278000 semapv:UnspecifiedMatching DOID:0080217 lysosomal acid lipase deficiency skos:exactMatch ORDO:275761 semapv:UnspecifiedMatching DOID:0080217 lysosomal acid lipase deficiency skos:exactMatch UMLS:C5574740 semapv:UnspecifiedMatching DOID:0080218 primary spontaneous pneumothorax oboInOwl:hasDbXref GARD:4997 semapv:UnspecifiedMatching -DOID:0080218 primary spontaneous pneumothorax oboInOwl:hasDbXref OMIM:173600 semapv:UnspecifiedMatching -DOID:0080218 primary spontaneous pneumothorax skos:exactMatch OMIM:173600 semapv:UnspecifiedMatching -DOID:0080219 dystransthyretinemic hyperthyroxinemia oboInOwl:hasDbXref OMIM:145680 semapv:UnspecifiedMatching -DOID:0080219 dystransthyretinemic hyperthyroxinemia skos:exactMatch OMIM:145680 semapv:UnspecifiedMatching DOID:0080222 pseudohypoparathyroidism type IB oboInOwl:hasDbXref GARD:10680 semapv:UnspecifiedMatching DOID:0080222 pseudohypoparathyroidism type IB oboInOwl:hasDbXref MESH:C548075 semapv:UnspecifiedMatching -DOID:0080222 pseudohypoparathyroidism type IB oboInOwl:hasDbXref OMIM:603233 semapv:UnspecifiedMatching DOID:0080222 pseudohypoparathyroidism type IB oboInOwl:hasDbXref ORDO:94089 semapv:UnspecifiedMatching -DOID:0080222 pseudohypoparathyroidism type IB skos:exactMatch OMIM:603233 semapv:UnspecifiedMatching DOID:0080223 epidermolytic palmoplantar keratoderma oboInOwl:hasDbXref GARD:2826 semapv:UnspecifiedMatching -DOID:0080223 epidermolytic palmoplantar keratoderma oboInOwl:hasDbXref OMIM:144200 semapv:UnspecifiedMatching DOID:0080223 epidermolytic palmoplantar keratoderma oboInOwl:hasDbXref ORDO:2199 semapv:UnspecifiedMatching -DOID:0080223 epidermolytic palmoplantar keratoderma skos:exactMatch OMIM:144200 semapv:UnspecifiedMatching DOID:0080224 autosomal dominant dystrophic epidermolysis bullosa oboInOwl:hasDbXref GARD:2139 semapv:UnspecifiedMatching -DOID:0080224 autosomal dominant dystrophic epidermolysis bullosa oboInOwl:hasDbXref OMIM:131750 semapv:UnspecifiedMatching -DOID:0080224 autosomal dominant dystrophic epidermolysis bullosa skos:exactMatch OMIM:131750 semapv:UnspecifiedMatching -DOID:0080225 amyotrophic lateral sclerosis type 23 oboInOwl:hasDbXref OMIM:617839 semapv:UnspecifiedMatching -DOID:0080225 amyotrophic lateral sclerosis type 23 skos:exactMatch OMIM:617839 semapv:UnspecifiedMatching -DOID:0080226 autosomal dominant intellectual developmental disorder 56 oboInOwl:hasDbXref OMIM:617854 semapv:UnspecifiedMatching -DOID:0080226 autosomal dominant intellectual developmental disorder 56 skos:exactMatch OMIM:617854 semapv:UnspecifiedMatching -DOID:0080227 autosomal dominant intellectual developmental disorder 55 oboInOwl:hasDbXref OMIM:617831 semapv:UnspecifiedMatching -DOID:0080227 autosomal dominant intellectual developmental disorder 55 skos:exactMatch OMIM:617831 semapv:UnspecifiedMatching -DOID:0080228 autosomal dominant intellectual developmental disorder 53 oboInOwl:hasDbXref OMIM:617798 semapv:UnspecifiedMatching -DOID:0080228 autosomal dominant intellectual developmental disorder 53 skos:exactMatch OMIM:617798 semapv:UnspecifiedMatching -DOID:0080230 autosomal dominant intellectual developmental disorder 54 oboInOwl:hasDbXref OMIM:617799 semapv:UnspecifiedMatching -DOID:0080230 autosomal dominant intellectual developmental disorder 54 skos:exactMatch OMIM:617799 semapv:UnspecifiedMatching -DOID:0080231 autosomal dominant intellectual developmental disorder 52 oboInOwl:hasDbXref OMIM:617796 semapv:UnspecifiedMatching -DOID:0080231 autosomal dominant intellectual developmental disorder 52 skos:exactMatch OMIM:617796 semapv:UnspecifiedMatching -DOID:0080232 autosomal dominant intellectual developmental disorder 51 oboInOwl:hasDbXref OMIM:617788 semapv:UnspecifiedMatching -DOID:0080232 autosomal dominant intellectual developmental disorder 51 skos:exactMatch OMIM:617788 semapv:UnspecifiedMatching -DOID:0080233 autosomal dominant intellectual developmental disorder 50 oboInOwl:hasDbXref OMIM:617787 semapv:UnspecifiedMatching -DOID:0080233 autosomal dominant intellectual developmental disorder 50 skos:exactMatch OMIM:617787 semapv:UnspecifiedMatching DOID:0080234 Clark-Baraitser syndrome oboInOwl:hasDbXref GARD:13584 semapv:UnspecifiedMatching DOID:0080234 Clark-Baraitser syndrome oboInOwl:hasDbXref MESH:C536208 semapv:UnspecifiedMatching -DOID:0080234 Clark-Baraitser syndrome oboInOwl:hasDbXref OMIM:617752 semapv:UnspecifiedMatching -DOID:0080234 Clark-Baraitser syndrome skos:exactMatch OMIM:617752 semapv:UnspecifiedMatching -DOID:0080235 autosomal dominant intellectual developmental disorder 48 oboInOwl:hasDbXref OMIM:617751 semapv:UnspecifiedMatching -DOID:0080235 autosomal dominant intellectual developmental disorder 48 skos:exactMatch OMIM:617751 semapv:UnspecifiedMatching -DOID:0080236 autosomal dominant intellectual developmental disorder 45 oboInOwl:hasDbXref OMIM:617600 semapv:UnspecifiedMatching -DOID:0080236 autosomal dominant intellectual developmental disorder 45 skos:exactMatch OMIM:617600 semapv:UnspecifiedMatching -DOID:0080237 autosomal dominant intellectual developmental disorder 46 oboInOwl:hasDbXref OMIM:617601 semapv:UnspecifiedMatching -DOID:0080237 autosomal dominant intellectual developmental disorder 46 skos:exactMatch OMIM:617601 semapv:UnspecifiedMatching -DOID:0080238 autosomal dominant intellectual developmental disorder 47 oboInOwl:hasDbXref OMIM:617635 semapv:UnspecifiedMatching -DOID:0080238 autosomal dominant intellectual developmental disorder 47 skos:exactMatch OMIM:617635 semapv:UnspecifiedMatching -DOID:0080239 autosomal recessive intellectual developmental disorder 61 oboInOwl:hasDbXref OMIM:617773 semapv:UnspecifiedMatching -DOID:0080239 autosomal recessive intellectual developmental disorder 61 skos:exactMatch OMIM:617773 semapv:UnspecifiedMatching -DOID:0080240 non-syndromic X-linked intellectual disability 106 oboInOwl:hasDbXref OMIM:300997 semapv:UnspecifiedMatching -DOID:0080240 non-syndromic X-linked intellectual disability 106 skos:exactMatch OMIM:300997 semapv:UnspecifiedMatching -DOID:0080241 syndromic X-linked mental retardation 35 oboInOwl:hasDbXref OMIM:300998 semapv:UnspecifiedMatching -DOID:0080241 syndromic X-linked mental retardation 35 skos:exactMatch OMIM:300998 semapv:UnspecifiedMatching -DOID:0080242 syndromic X-linked mental retardation Hough type oboInOwl:hasDbXref OMIM:301008 semapv:UnspecifiedMatching -DOID:0080242 syndromic X-linked mental retardation Hough type skos:exactMatch OMIM:301008 semapv:UnspecifiedMatching -DOID:0080243 amelogenesis imperfecta type 3B oboInOwl:hasDbXref OMIM:617607 semapv:UnspecifiedMatching -DOID:0080243 amelogenesis imperfecta type 3B skos:exactMatch OMIM:617607 semapv:UnspecifiedMatching -DOID:0080244 Galloway-Mowat syndrome 2 oboInOwl:hasDbXref OMIM:301006 semapv:UnspecifiedMatching -DOID:0080244 Galloway-Mowat syndrome 2 skos:exactMatch OMIM:301006 semapv:UnspecifiedMatching -DOID:0080245 Galloway-Mowat syndrome 3 oboInOwl:hasDbXref OMIM:617729 semapv:UnspecifiedMatching -DOID:0080245 Galloway-Mowat syndrome 3 skos:exactMatch OMIM:617729 semapv:UnspecifiedMatching -DOID:0080246 Galloway-Mowat syndrome 4 oboInOwl:hasDbXref OMIM:617730 semapv:UnspecifiedMatching -DOID:0080246 Galloway-Mowat syndrome 4 skos:exactMatch OMIM:617730 semapv:UnspecifiedMatching -DOID:0080247 Galloway-Mowat syndrome 5 oboInOwl:hasDbXref OMIM:617731 semapv:UnspecifiedMatching -DOID:0080247 Galloway-Mowat syndrome 5 skos:exactMatch OMIM:617731 semapv:UnspecifiedMatching -DOID:0080248 erythrokeratodermia variabilis et progressiva 2 oboInOwl:hasDbXref OMIM:617524 semapv:UnspecifiedMatching -DOID:0080248 erythrokeratodermia variabilis et progressiva 2 skos:exactMatch OMIM:617524 semapv:UnspecifiedMatching -DOID:0080249 erythrokeratodermia variabilis et progressiva 3 oboInOwl:hasDbXref OMIM:617525 semapv:UnspecifiedMatching -DOID:0080249 erythrokeratodermia variabilis et progressiva 3 skos:exactMatch OMIM:617525 semapv:UnspecifiedMatching -DOID:0080250 erythrokeratodermia variabilis et progressiva 4 oboInOwl:hasDbXref OMIM:617526 semapv:UnspecifiedMatching -DOID:0080250 erythrokeratodermia variabilis et progressiva 4 skos:exactMatch OMIM:617526 semapv:UnspecifiedMatching -DOID:0080251 erythrokeratodermia variabilis et progressiva 5 oboInOwl:hasDbXref OMIM:617756 semapv:UnspecifiedMatching -DOID:0080251 erythrokeratodermia variabilis et progressiva 5 skos:exactMatch OMIM:617756 semapv:UnspecifiedMatching -DOID:0080252 spastic ataxia 8 oboInOwl:hasDbXref OMIM:617560 semapv:UnspecifiedMatching -DOID:0080252 spastic ataxia 8 skos:exactMatch OMIM:617560 semapv:UnspecifiedMatching -DOID:0080253 Meckel syndrome 13 oboInOwl:hasDbXref OMIM:617562 semapv:UnspecifiedMatching -DOID:0080253 Meckel syndrome 13 skos:exactMatch OMIM:617562 semapv:UnspecifiedMatching -DOID:0080254 orofaciodigital syndrome XVI oboInOwl:hasDbXref OMIM:617563 semapv:UnspecifiedMatching -DOID:0080254 orofaciodigital syndrome XVI skos:exactMatch OMIM:617563 semapv:UnspecifiedMatching -DOID:0080255 Meier-Gorlin syndrome 8 oboInOwl:hasDbXref OMIM:617564 semapv:UnspecifiedMatching -DOID:0080255 Meier-Gorlin syndrome 8 skos:exactMatch OMIM:617564 semapv:UnspecifiedMatching -DOID:0080256 Perrault syndrome 6 oboInOwl:hasDbXref OMIM:617565 semapv:UnspecifiedMatching -DOID:0080256 Perrault syndrome 6 skos:exactMatch OMIM:617565 semapv:UnspecifiedMatching -DOID:0080257 autosomal recessive congenital ichthyosis 13 oboInOwl:hasDbXref OMIM:617574 semapv:UnspecifiedMatching -DOID:0080257 autosomal recessive congenital ichthyosis 13 skos:exactMatch OMIM:617574 semapv:UnspecifiedMatching -DOID:0080258 autosomal recessive congenital ichthyosis 14 oboInOwl:hasDbXref OMIM:617571 semapv:UnspecifiedMatching -DOID:0080258 autosomal recessive congenital ichthyosis 14 skos:exactMatch OMIM:617571 semapv:UnspecifiedMatching -DOID:0080259 autosomal recessive spinocerebellar ataxia 25 oboInOwl:hasDbXref OMIM:617584 semapv:UnspecifiedMatching -DOID:0080259 autosomal recessive spinocerebellar ataxia 25 skos:exactMatch OMIM:617584 semapv:UnspecifiedMatching -DOID:0080260 autosomal recessive spinocerebellar ataxia 26 oboInOwl:hasDbXref OMIM:617633 semapv:UnspecifiedMatching -DOID:0080260 autosomal recessive spinocerebellar ataxia 26 skos:exactMatch OMIM:617633 semapv:UnspecifiedMatching -DOID:0080261 autosomal recessive nonsyndromic deafness 106 oboInOwl:hasDbXref OMIM:617637 semapv:UnspecifiedMatching -DOID:0080261 autosomal recessive nonsyndromic deafness 106 skos:exactMatch OMIM:617637 semapv:UnspecifiedMatching -DOID:0080262 autosomal recessive nonsyndromic deafness 107 oboInOwl:hasDbXref OMIM:617639 semapv:UnspecifiedMatching -DOID:0080262 autosomal recessive nonsyndromic deafness 107 skos:exactMatch OMIM:617639 semapv:UnspecifiedMatching -DOID:0080263 autosomal recessive nonsyndromic deafness 108 oboInOwl:hasDbXref OMIM:617654 semapv:UnspecifiedMatching -DOID:0080263 autosomal recessive nonsyndromic deafness 108 skos:exactMatch OMIM:617654 semapv:UnspecifiedMatching -DOID:0080264 exudative vitreoretinopathy 7 oboInOwl:hasDbXref OMIM:617572 semapv:UnspecifiedMatching -DOID:0080264 exudative vitreoretinopathy 7 skos:exactMatch OMIM:617572 semapv:UnspecifiedMatching -DOID:0080265 nephrotic syndrome type 14 oboInOwl:hasDbXref OMIM:617575 semapv:UnspecifiedMatching -DOID:0080265 nephrotic syndrome type 14 skos:exactMatch OMIM:617575 semapv:UnspecifiedMatching -DOID:0080266 primary ciliary dyskinesia 37 oboInOwl:hasDbXref OMIM:617577 semapv:UnspecifiedMatching -DOID:0080266 primary ciliary dyskinesia 37 skos:exactMatch OMIM:617577 semapv:UnspecifiedMatching -DOID:0080267 autosomal dominant nonsyndromic deafness 71 oboInOwl:hasDbXref OMIM:617605 semapv:UnspecifiedMatching -DOID:0080267 autosomal dominant nonsyndromic deafness 71 skos:exactMatch OMIM:617605 semapv:UnspecifiedMatching -DOID:0080268 autosomal dominant nonsyndromic deafness 72 oboInOwl:hasDbXref OMIM:617606 semapv:UnspecifiedMatching -DOID:0080268 autosomal dominant nonsyndromic deafness 72 skos:exactMatch OMIM:617606 semapv:UnspecifiedMatching -DOID:0080269 autosomal dominant nonsyndromic deafness 73 oboInOwl:hasDbXref OMIM:617663 semapv:UnspecifiedMatching -DOID:0080269 autosomal dominant nonsyndromic deafness 73 skos:exactMatch OMIM:617663 semapv:UnspecifiedMatching -DOID:0080270 autosomal dominant nonsyndromic deafness 34 oboInOwl:hasDbXref OMIM:617772 semapv:UnspecifiedMatching -DOID:0080270 autosomal dominant nonsyndromic deafness 34 skos:exactMatch OMIM:617772 semapv:UnspecifiedMatching -DOID:0080271 nephrotic syndrome type 15 oboInOwl:hasDbXref OMIM:617609 semapv:UnspecifiedMatching -DOID:0080271 nephrotic syndrome type 15 skos:exactMatch OMIM:617609 semapv:UnspecifiedMatching -DOID:0080272 nephrotic syndrome type 16 oboInOwl:hasDbXref OMIM:617783 semapv:UnspecifiedMatching -DOID:0080272 nephrotic syndrome type 16 skos:exactMatch OMIM:617783 semapv:UnspecifiedMatching -DOID:0080273 polycystic kidney disease 5 oboInOwl:hasDbXref OMIM:617610 semapv:UnspecifiedMatching -DOID:0080273 polycystic kidney disease 5 skos:exactMatch OMIM:617610 semapv:UnspecifiedMatching -DOID:0080274 multiple mitochondrial dysfunctions syndrome 5 oboInOwl:hasDbXref OMIM:617613 semapv:UnspecifiedMatching -DOID:0080274 multiple mitochondrial dysfunctions syndrome 5 skos:exactMatch OMIM:617613 semapv:UnspecifiedMatching -DOID:0080275 Joubert syndrome 30 oboInOwl:hasDbXref OMIM:617622 semapv:UnspecifiedMatching -DOID:0080275 Joubert syndrome 30 skos:exactMatch OMIM:617622 semapv:UnspecifiedMatching -DOID:0080277 Joubert syndrome 31 oboInOwl:hasDbXref OMIM:617761 semapv:UnspecifiedMatching -DOID:0080277 Joubert syndrome 31 skos:exactMatch OMIM:617761 semapv:UnspecifiedMatching -DOID:0080278 Joubert syndrome 32 oboInOwl:hasDbXref OMIM:617757 semapv:UnspecifiedMatching -DOID:0080278 Joubert syndrome 32 skos:exactMatch OMIM:617757 semapv:UnspecifiedMatching -DOID:0080279 Joubert syndrome 33 oboInOwl:hasDbXref OMIM:617767 semapv:UnspecifiedMatching -DOID:0080279 Joubert syndrome 33 skos:exactMatch OMIM:617767 semapv:UnspecifiedMatching -DOID:0080280 gingival fibromatosis 5 oboInOwl:hasDbXref OMIM:617626 semapv:UnspecifiedMatching -DOID:0080280 gingival fibromatosis 5 skos:exactMatch OMIM:617626 semapv:UnspecifiedMatching -DOID:0080281 schizophrenia 19 oboInOwl:hasDbXref OMIM:617629 semapv:UnspecifiedMatching -DOID:0080281 schizophrenia 19 skos:exactMatch OMIM:617629 semapv:UnspecifiedMatching -DOID:0080282 developmental and epileptic encephalopathy 56 oboInOwl:hasDbXref OMIM:617665 semapv:UnspecifiedMatching -DOID:0080282 developmental and epileptic encephalopathy 56 skos:exactMatch OMIM:617665 semapv:UnspecifiedMatching -DOID:0080283 developmental and epileptic encephalopathy 55 oboInOwl:hasDbXref OMIM:617599 semapv:UnspecifiedMatching -DOID:0080283 developmental and epileptic encephalopathy 55 skos:exactMatch OMIM:617599 semapv:UnspecifiedMatching -DOID:0080284 developmental and epileptic encephalopathy 57 oboInOwl:hasDbXref OMIM:617771 semapv:UnspecifiedMatching -DOID:0080284 developmental and epileptic encephalopathy 57 skos:exactMatch OMIM:617771 semapv:UnspecifiedMatching -DOID:0080285 developmental and epileptic encephalopathy 58 oboInOwl:hasDbXref OMIM:617830 semapv:UnspecifiedMatching -DOID:0080285 developmental and epileptic encephalopathy 58 skos:exactMatch OMIM:617830 semapv:UnspecifiedMatching -DOID:0080286 spinocerebellar ataxia 44 oboInOwl:hasDbXref OMIM:617691 semapv:UnspecifiedMatching -DOID:0080286 spinocerebellar ataxia 44 skos:exactMatch OMIM:617691 semapv:UnspecifiedMatching -DOID:0080287 spinocerebellar ataxia 45 oboInOwl:hasDbXref OMIM:617769 semapv:UnspecifiedMatching -DOID:0080287 spinocerebellar ataxia 45 skos:exactMatch OMIM:617769 semapv:UnspecifiedMatching -DOID:0080288 spinocerebellar ataxia 46 oboInOwl:hasDbXref OMIM:617770 semapv:UnspecifiedMatching -DOID:0080288 spinocerebellar ataxia 46 skos:exactMatch OMIM:617770 semapv:UnspecifiedMatching -DOID:0080289 orofaciodigital syndrome XVII oboInOwl:hasDbXref OMIM:617926 semapv:UnspecifiedMatching -DOID:0080289 orofaciodigital syndrome XVII skos:exactMatch OMIM:617926 semapv:UnspecifiedMatching -DOID:0080290 familial erythrocytosis 5 oboInOwl:hasDbXref OMIM:617907 semapv:UnspecifiedMatching -DOID:0080290 familial erythrocytosis 5 skos:exactMatch OMIM:617907 semapv:UnspecifiedMatching -DOID:0080291 developmental and epileptic encephalopathy 59 oboInOwl:hasDbXref OMIM:617904 semapv:UnspecifiedMatching -DOID:0080291 developmental and epileptic encephalopathy 59 skos:exactMatch OMIM:617904 semapv:UnspecifiedMatching -DOID:0080292 retinitis pigmentosa 81 oboInOwl:hasDbXref OMIM:617871 semapv:UnspecifiedMatching -DOID:0080292 retinitis pigmentosa 81 skos:exactMatch OMIM:617871 semapv:UnspecifiedMatching -DOID:0080293 short-rib thoracic dysplasia 18 with polydactyly oboInOwl:hasDbXref OMIM:617866 semapv:UnspecifiedMatching -DOID:0080293 short-rib thoracic dysplasia 18 with polydactyly skos:exactMatch OMIM:617866 semapv:UnspecifiedMatching -DOID:0080294 Charcot-Marie-Tooth disease dominant intermediate G oboInOwl:hasDbXref OMIM:617882 semapv:UnspecifiedMatching -DOID:0080294 Charcot-Marie-Tooth disease dominant intermediate G skos:exactMatch OMIM:617882 semapv:UnspecifiedMatching -DOID:0080295 short-rib thoracic dysplasia 19 with or without polydactyly oboInOwl:hasDbXref OMIM:617895 semapv:UnspecifiedMatching -DOID:0080295 short-rib thoracic dysplasia 19 with or without polydactyly skos:exactMatch OMIM:617895 semapv:UnspecifiedMatching -DOID:0080296 hypomyelinating leukodystrophy 14 oboInOwl:hasDbXref OMIM:617899 semapv:UnspecifiedMatching -DOID:0080296 hypomyelinating leukodystrophy 14 skos:exactMatch OMIM:617899 semapv:UnspecifiedMatching -DOID:0080297 Coffin-Siris syndrome 6 oboInOwl:hasDbXref OMIM:617808 semapv:UnspecifiedMatching -DOID:0080297 Coffin-Siris syndrome 6 skos:exactMatch OMIM:617808 semapv:UnspecifiedMatching DOID:0080301 atypical hemolytic-uremic syndrome oboInOwl:hasDbXref GARD:8702 semapv:UnspecifiedMatching DOID:0080301 atypical hemolytic-uremic syndrome oboInOwl:hasDbXref MESH:D065766 semapv:UnspecifiedMatching DOID:0080301 atypical hemolytic-uremic syndrome oboInOwl:hasDbXref ORDO:2134 semapv:UnspecifiedMatching @@ -7060,779 +3682,212 @@ DOID:0080302 mixed sleep apnea oboInOwl:hasDbXref MESH:D012891 semapv:Unspecifie DOID:0080302 mixed sleep apnea oboInOwl:hasDbXref UMLS:C0338495 semapv:UnspecifiedMatching DOID:0080307 myofibrillar myopathy oboInOwl:hasDbXref GARD:10529 semapv:UnspecifiedMatching DOID:0080307 myofibrillar myopathy oboInOwl:hasDbXref MESH:C580316 semapv:UnspecifiedMatching -DOID:0080307 myofibrillar myopathy oboInOwl:hasDbXref OMIMPS:601419 semapv:UnspecifiedMatching -DOID:0080307 myofibrillar myopathy skos:exactMatch OMIMPS:601419 semapv:UnspecifiedMatching -DOID:0080308 myofibrillar myopathy 8 oboInOwl:hasDbXref OMIM:617258 semapv:UnspecifiedMatching -DOID:0080308 myofibrillar myopathy 8 skos:exactMatch OMIM:617258 semapv:UnspecifiedMatching -DOID:0080309 fatal infantile hypertonic myofibrillar myopathy oboInOwl:hasDbXref OMIM:613869 semapv:UnspecifiedMatching -DOID:0080309 fatal infantile hypertonic myofibrillar myopathy skos:exactMatch OMIM:613869 semapv:UnspecifiedMatching -DOID:0080311 X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance oboInOwl:hasDbXref OMIM:300486 semapv:UnspecifiedMatching -DOID:0080311 X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance skos:exactMatch OMIM:300486 semapv:UnspecifiedMatching -DOID:0080312 neurodevelopmental disorder with midbrain and hindbrain malformations oboInOwl:hasDbXref OMIM:617523 semapv:UnspecifiedMatching -DOID:0080312 neurodevelopmental disorder with midbrain and hindbrain malformations skos:exactMatch OMIM:617523 semapv:UnspecifiedMatching DOID:0080313 cleft palate-lateral synechia syndrome oboInOwl:hasDbXref MESH:C563047 semapv:UnspecifiedMatching -DOID:0080313 cleft palate-lateral synechia syndrome oboInOwl:hasDbXref OMIM:119550 semapv:UnspecifiedMatching DOID:0080313 cleft palate-lateral synechia syndrome oboInOwl:hasDbXref ORDO:2016 semapv:UnspecifiedMatching DOID:0080313 cleft palate-lateral synechia syndrome oboInOwl:hasDbXref UMLS:C0795898 semapv:UnspecifiedMatching -DOID:0080313 cleft palate-lateral synechia syndrome skos:exactMatch OMIM:119550 semapv:UnspecifiedMatching DOID:0080314 cone-rod dystrophy 14 oboInOwl:hasDbXref MESH:C566579 semapv:UnspecifiedMatching -DOID:0080314 cone-rod dystrophy 14 oboInOwl:hasDbXref OMIM:602093 semapv:UnspecifiedMatching DOID:0080314 cone-rod dystrophy 14 oboInOwl:hasDbXref UMLS:C1838190 semapv:UnspecifiedMatching DOID:0080314 cone-rod dystrophy 14 oboInOwl:hasDbXref UMLS:C1865869 semapv:UnspecifiedMatching -DOID:0080314 cone-rod dystrophy 14 skos:exactMatch OMIM:602093 semapv:UnspecifiedMatching DOID:0080315 megalencephalic leukoencephalopathy with subcortical cysts oboInOwl:hasDbXref GARD:3445 semapv:UnspecifiedMatching DOID:0080315 megalencephalic leukoencephalopathy with subcortical cysts oboInOwl:hasDbXref MESH:C536141 semapv:UnspecifiedMatching -DOID:0080315 megalencephalic leukoencephalopathy with subcortical cysts oboInOwl:hasDbXref OMIMPS:604004 semapv:UnspecifiedMatching DOID:0080315 megalencephalic leukoencephalopathy with subcortical cysts oboInOwl:hasDbXref ORDO:2478 semapv:UnspecifiedMatching DOID:0080315 megalencephalic leukoencephalopathy with subcortical cysts oboInOwl:hasDbXref UMLS:C1858854 semapv:UnspecifiedMatching -DOID:0080315 megalencephalic leukoencephalopathy with subcortical cysts skos:exactMatch OMIMPS:604004 semapv:UnspecifiedMatching DOID:0080316 megalencephalic leukoencephalopathy with subcortical cysts 1 oboInOwl:hasDbXref MESH:C536141 semapv:UnspecifiedMatching -DOID:0080316 megalencephalic leukoencephalopathy with subcortical cysts 1 oboInOwl:hasDbXref OMIM:604004 semapv:UnspecifiedMatching DOID:0080316 megalencephalic leukoencephalopathy with subcortical cysts 1 oboInOwl:hasDbXref UMLS:C1858854 semapv:UnspecifiedMatching -DOID:0080316 megalencephalic leukoencephalopathy with subcortical cysts 1 skos:exactMatch OMIM:604004 semapv:UnspecifiedMatching -DOID:0080317 megalencephalic leukoencephalopathy with subcortical cysts 2B oboInOwl:hasDbXref OMIM:613926 semapv:UnspecifiedMatching -DOID:0080317 megalencephalic leukoencephalopathy with subcortical cysts 2B skos:exactMatch OMIM:613926 semapv:UnspecifiedMatching -DOID:0080318 megalencephalic leukoencephalopathy with subcortical cysts 2A oboInOwl:hasDbXref OMIM:613925 semapv:UnspecifiedMatching -DOID:0080318 megalencephalic leukoencephalopathy with subcortical cysts 2A skos:exactMatch OMIM:613925 semapv:UnspecifiedMatching -DOID:0080319 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia oboInOwl:hasDbXref OMIM:300853 semapv:UnspecifiedMatching -DOID:0080319 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia skos:exactMatch OMIM:300853 semapv:UnspecifiedMatching -DOID:0080322 polycystic kidney disease oboInOwl:hasDbXref OMIMPS:173900 semapv:UnspecifiedMatching -DOID:0080322 polycystic kidney disease skos:exactMatch OMIMPS:173900 semapv:UnspecifiedMatching DOID:0080324 tuberous sclerosis 1 oboInOwl:hasDbXref MESH:C565346 semapv:UnspecifiedMatching -DOID:0080324 tuberous sclerosis 1 oboInOwl:hasDbXref OMIM:191100 semapv:UnspecifiedMatching -DOID:0080324 tuberous sclerosis 1 skos:exactMatch OMIM:191100 semapv:UnspecifiedMatching DOID:0080325 tuberous sclerosis 2 oboInOwl:hasDbXref MESH:C566021 semapv:UnspecifiedMatching -DOID:0080325 tuberous sclerosis 2 oboInOwl:hasDbXref OMIM:613254 semapv:UnspecifiedMatching -DOID:0080325 tuberous sclerosis 2 skos:exactMatch OMIM:613254 semapv:UnspecifiedMatching DOID:0080326 familial hypertrophic cardiomyopathy oboInOwl:hasDbXref MESH:D024741 semapv:UnspecifiedMatching DOID:0080326 familial hypertrophic cardiomyopathy oboInOwl:hasDbXref NCI:C84773 semapv:UnspecifiedMatching -DOID:0080326 familial hypertrophic cardiomyopathy oboInOwl:hasDbXref OMIMPS:192600 semapv:UnspecifiedMatching DOID:0080326 familial hypertrophic cardiomyopathy oboInOwl:hasDbXref ORDO:217569 semapv:UnspecifiedMatching DOID:0080326 familial hypertrophic cardiomyopathy oboInOwl:hasDbXref UMLS:C0949658 semapv:UnspecifiedMatching -DOID:0080326 familial hypertrophic cardiomyopathy skos:exactMatch OMIMPS:192600 semapv:UnspecifiedMatching -DOID:0080327 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly oboInOwl:hasDbXref OMIM:236500 semapv:UnspecifiedMatching -DOID:0080327 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly skos:exactMatch OMIM:236500 semapv:UnspecifiedMatching DOID:0080328 Culler-Jones syndrome oboInOwl:hasDbXref GARD:13349 semapv:UnspecifiedMatching -DOID:0080328 Culler-Jones syndrome oboInOwl:hasDbXref OMIM:615849 semapv:UnspecifiedMatching -DOID:0080328 Culler-Jones syndrome skos:exactMatch OMIM:615849 semapv:UnspecifiedMatching -DOID:0080329 cold-induced sweating syndrome 1 oboInOwl:hasDbXref OMIM:272430 semapv:UnspecifiedMatching -DOID:0080329 cold-induced sweating syndrome 1 skos:exactMatch OMIM:272430 semapv:UnspecifiedMatching -DOID:0080330 cold-induced sweating syndrome 2 oboInOwl:hasDbXref OMIM:610313 semapv:UnspecifiedMatching -DOID:0080330 cold-induced sweating syndrome 2 skos:exactMatch OMIM:610313 semapv:UnspecifiedMatching -DOID:0080331 cold-induced sweating syndrome 3 oboInOwl:hasDbXref OMIM:617055 semapv:UnspecifiedMatching -DOID:0080331 cold-induced sweating syndrome 3 skos:exactMatch OMIM:617055 semapv:UnspecifiedMatching DOID:0080332 bicuspid aortic valve disease oboInOwl:hasDbXref MESH:D000082882 semapv:UnspecifiedMatching -DOID:0080332 bicuspid aortic valve disease oboInOwl:hasDbXref OMIMPS:109730 semapv:UnspecifiedMatching DOID:0080332 bicuspid aortic valve disease oboInOwl:hasDbXref ORDO:402075 semapv:UnspecifiedMatching -DOID:0080332 bicuspid aortic valve disease skos:exactMatch OMIMPS:109730 semapv:UnspecifiedMatching -DOID:0080333 aortic valve disease 1 oboInOwl:hasDbXref OMIM:109730 semapv:UnspecifiedMatching -DOID:0080333 aortic valve disease 1 skos:exactMatch OMIM:109730 semapv:UnspecifiedMatching -DOID:0080334 aortic valve disease 2 oboInOwl:hasDbXref OMIM:614823 semapv:UnspecifiedMatching -DOID:0080334 aortic valve disease 2 skos:exactMatch OMIM:614823 semapv:UnspecifiedMatching DOID:0080335 mitochondrial DNA depletion syndrome 12b oboInOwl:hasDbXref GARD:1142 semapv:UnspecifiedMatching DOID:0080335 mitochondrial DNA depletion syndrome 12b oboInOwl:hasDbXref NCI:C129977 semapv:UnspecifiedMatching -DOID:0080335 mitochondrial DNA depletion syndrome 12b oboInOwl:hasDbXref OMIM:615418 semapv:UnspecifiedMatching DOID:0080335 mitochondrial DNA depletion syndrome 12b oboInOwl:hasDbXref ORDO:1369 semapv:UnspecifiedMatching -DOID:0080335 mitochondrial DNA depletion syndrome 12b skos:exactMatch OMIM:615418 semapv:UnspecifiedMatching -DOID:0080336 mitochondrial DNA depletion syndrome 14 oboInOwl:hasDbXref OMIM:616896 semapv:UnspecifiedMatching -DOID:0080336 mitochondrial DNA depletion syndrome 14 skos:exactMatch OMIM:616896 semapv:UnspecifiedMatching -DOID:0080337 mitochondrial DNA depletion syndrome 15 oboInOwl:hasDbXref OMIM:617156 semapv:UnspecifiedMatching -DOID:0080337 mitochondrial DNA depletion syndrome 15 skos:exactMatch OMIM:617156 semapv:UnspecifiedMatching -DOID:0080338 familial erythrocytosis 3 oboInOwl:hasDbXref OMIM:609820 semapv:UnspecifiedMatching -DOID:0080338 familial erythrocytosis 3 skos:exactMatch OMIM:609820 semapv:UnspecifiedMatching -DOID:0080339 familial erythrocytosis 4 oboInOwl:hasDbXref OMIM:611783 semapv:UnspecifiedMatching -DOID:0080339 familial erythrocytosis 4 skos:exactMatch OMIM:611783 semapv:UnspecifiedMatching -DOID:0080342 Simpson-Golabi-Behmel syndrome type 2 oboInOwl:hasDbXref OMIM:300209 semapv:UnspecifiedMatching -DOID:0080342 Simpson-Golabi-Behmel syndrome type 2 skos:exactMatch OMIM:300209 semapv:UnspecifiedMatching -DOID:0080343 autosomal recessive pyridoxine-refractory sideroblastic anemia 3 oboInOwl:hasDbXref OMIM:616860 semapv:UnspecifiedMatching -DOID:0080343 autosomal recessive pyridoxine-refractory sideroblastic anemia 3 skos:exactMatch OMIM:616860 semapv:UnspecifiedMatching DOID:0080344 blepharocheilodontic syndrome oboInOwl:hasDbXref MESH:C536188 semapv:UnspecifiedMatching -DOID:0080344 blepharocheilodontic syndrome oboInOwl:hasDbXref OMIMPS:119580 semapv:UnspecifiedMatching -DOID:0080344 blepharocheilodontic syndrome skos:exactMatch OMIMPS:119580 semapv:UnspecifiedMatching -DOID:0080345 blepharocheilodontic syndrome 1 oboInOwl:hasDbXref OMIM:119580 semapv:UnspecifiedMatching -DOID:0080345 blepharocheilodontic syndrome 1 skos:exactMatch OMIM:119580 semapv:UnspecifiedMatching -DOID:0080346 blepharocheilodontic syndrome 2 oboInOwl:hasDbXref OMIM:617681 semapv:UnspecifiedMatching -DOID:0080346 blepharocheilodontic syndrome 2 skos:exactMatch OMIM:617681 semapv:UnspecifiedMatching DOID:0080347 malignant pheochromocytoma oboInOwl:hasDbXref ICDO:8700/3 semapv:UnspecifiedMatching -DOID:0080348 Alzheimer's disease 1 oboInOwl:hasDbXref OMIM:104300 semapv:UnspecifiedMatching -DOID:0080348 Alzheimer's disease 1 skos:exactMatch OMIM:104300 semapv:UnspecifiedMatching DOID:0080349 developmental and epileptic encephalopathy 39 oboInOwl:hasDbXref MESH:C567847 semapv:UnspecifiedMatching -DOID:0080349 developmental and epileptic encephalopathy 39 oboInOwl:hasDbXref OMIM:612949 semapv:UnspecifiedMatching DOID:0080349 developmental and epileptic encephalopathy 39 oboInOwl:hasDbXref ORDO:353217 semapv:UnspecifiedMatching -DOID:0080349 developmental and epileptic encephalopathy 39 skos:exactMatch OMIM:612949 semapv:UnspecifiedMatching DOID:0080350 retinitis pigmentosa 77 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0080350 retinitis pigmentosa 77 oboInOwl:hasDbXref OMIM:617304 semapv:UnspecifiedMatching -DOID:0080350 retinitis pigmentosa 77 skos:exactMatch OMIM:617304 semapv:UnspecifiedMatching DOID:0080351 CLOVES syndrome oboInOwl:hasDbXref GARD:10939 semapv:UnspecifiedMatching DOID:0080351 CLOVES syndrome oboInOwl:hasDbXref ICD10CM:Q87.3 semapv:UnspecifiedMatching -DOID:0080351 CLOVES syndrome oboInOwl:hasDbXref OMIM:612918 semapv:UnspecifiedMatching DOID:0080351 CLOVES syndrome oboInOwl:hasDbXref ORDO:140944 semapv:UnspecifiedMatching -DOID:0080351 CLOVES syndrome skos:exactMatch OMIM:612918 semapv:UnspecifiedMatching -DOID:0080352 X-linked chondrodysplasia punctata 2 oboInOwl:hasDbXref OMIM:302960 semapv:UnspecifiedMatching -DOID:0080352 X-linked chondrodysplasia punctata 2 skos:exactMatch OMIM:302960 semapv:UnspecifiedMatching -DOID:0080353 X-linked recessive hypophosphatemic rickets oboInOwl:hasDbXref OMIM:300554 semapv:UnspecifiedMatching -DOID:0080353 X-linked recessive hypophosphatemic rickets skos:exactMatch OMIM:300554 semapv:UnspecifiedMatching DOID:0080354 Phelan-McDermid syndrome oboInOwl:hasDbXref GARD:10130 semapv:UnspecifiedMatching -DOID:0080354 Phelan-McDermid syndrome oboInOwl:hasDbXref OMIM:606232 semapv:UnspecifiedMatching DOID:0080354 Phelan-McDermid syndrome oboInOwl:hasDbXref ORDO:48652 semapv:UnspecifiedMatching -DOID:0080354 Phelan-McDermid syndrome skos:exactMatch OMIM:606232 semapv:UnspecifiedMatching DOID:0080356 IgG4-related disease oboInOwl:hasDbXref GARD:12521 semapv:UnspecifiedMatching DOID:0080356 IgG4-related disease oboInOwl:hasDbXref ORDO:284264 semapv:UnspecifiedMatching -DOID:0080357 mitochondrial complex IV deficiency nuclear type 2 oboInOwl:hasDbXref OMIM:604377 semapv:UnspecifiedMatching DOID:0080357 mitochondrial complex IV deficiency nuclear type 2 oboInOwl:hasDbXref UMLS:C5399977 semapv:UnspecifiedMatching -DOID:0080357 mitochondrial complex IV deficiency nuclear type 2 skos:exactMatch OMIM:604377 semapv:UnspecifiedMatching -DOID:0080357 mitochondrial complex IV deficiency nuclear type 2 skos:exactMatch OMIM:604377 semapv:UnspecifiedMatching DOID:0080357 mitochondrial complex IV deficiency nuclear type 2 skos:exactMatch UMLS:C5399977 semapv:UnspecifiedMatching -DOID:0080358 mitochondrial complex IV deficiency nuclear type 6 oboInOwl:hasDbXref OMIM:615119 semapv:UnspecifiedMatching DOID:0080358 mitochondrial complex IV deficiency nuclear type 6 oboInOwl:hasDbXref UMLS:C3554534 semapv:UnspecifiedMatching -DOID:0080358 mitochondrial complex IV deficiency nuclear type 6 skos:exactMatch OMIM:615119 semapv:UnspecifiedMatching -DOID:0080358 mitochondrial complex IV deficiency nuclear type 6 skos:exactMatch OMIM:615119 semapv:UnspecifiedMatching DOID:0080358 mitochondrial complex IV deficiency nuclear type 6 skos:exactMatch UMLS:C3554534 semapv:UnspecifiedMatching -DOID:0080359 mitochondrial complex IV deficiency nuclear type 9 oboInOwl:hasDbXref OMIM:616500 semapv:UnspecifiedMatching DOID:0080359 mitochondrial complex IV deficiency nuclear type 9 oboInOwl:hasDbXref UMLS:C4225154 semapv:UnspecifiedMatching -DOID:0080359 mitochondrial complex IV deficiency nuclear type 9 skos:exactMatch OMIM:616500 semapv:UnspecifiedMatching -DOID:0080359 mitochondrial complex IV deficiency nuclear type 9 skos:exactMatch OMIM:616500 semapv:UnspecifiedMatching DOID:0080359 mitochondrial complex IV deficiency nuclear type 9 skos:exactMatch UMLS:C4225154 semapv:UnspecifiedMatching -DOID:0080360 mitochondrial complex IV deficiency nuclear type 13 oboInOwl:hasDbXref OMIM:616501 semapv:UnspecifiedMatching DOID:0080360 mitochondrial complex IV deficiency nuclear type 13 oboInOwl:hasDbXref UMLS:C4225304 semapv:UnspecifiedMatching -DOID:0080360 mitochondrial complex IV deficiency nuclear type 13 skos:exactMatch OMIM:616501 semapv:UnspecifiedMatching -DOID:0080360 mitochondrial complex IV deficiency nuclear type 13 skos:exactMatch OMIM:616501 semapv:UnspecifiedMatching DOID:0080360 mitochondrial complex IV deficiency nuclear type 13 skos:exactMatch UMLS:C4225304 semapv:UnspecifiedMatching DOID:0080361 trimethylaminuria oboInOwl:hasDbXref GARD:6447 semapv:UnspecifiedMatching DOID:0080361 trimethylaminuria oboInOwl:hasDbXref MESH:C536561 semapv:UnspecifiedMatching -DOID:0080361 trimethylaminuria oboInOwl:hasDbXref OMIM:602079 semapv:UnspecifiedMatching DOID:0080361 trimethylaminuria oboInOwl:hasDbXref ORDO:468726 semapv:UnspecifiedMatching -DOID:0080361 trimethylaminuria skos:exactMatch OMIM:602079 semapv:UnspecifiedMatching -DOID:0080362 X-linked spondyloepiphyseal dysplasia tarda oboInOwl:hasDbXref OMIM:313400 semapv:UnspecifiedMatching -DOID:0080362 X-linked spondyloepiphyseal dysplasia tarda skos:exactMatch OMIM:313400 semapv:UnspecifiedMatching -DOID:0080363 mitochondrial pyruvate carrier deficiency oboInOwl:hasDbXref OMIM:614741 semapv:UnspecifiedMatching DOID:0080363 mitochondrial pyruvate carrier deficiency oboInOwl:hasDbXref ORDO:447784 semapv:UnspecifiedMatching -DOID:0080363 mitochondrial pyruvate carrier deficiency skos:exactMatch OMIM:614741 semapv:UnspecifiedMatching DOID:0080365 endometrial hyperplasia oboInOwl:hasDbXref MESH:D004714 semapv:UnspecifiedMatching DOID:0080367 chronic eosinophilic leukemia oboInOwl:hasDbXref ICDO:9964/3 semapv:UnspecifiedMatching DOID:0080367 chronic eosinophilic leukemia oboInOwl:hasDbXref NCI:C4563 semapv:UnspecifiedMatching DOID:0080369 ovarian sex-cord stromal tumor oboInOwl:hasDbXref NCI:C4862 semapv:UnspecifiedMatching DOID:0080370 ovarian sex cord-stromal benign neoplasm oboInOwl:hasDbXref NCI:C6803 semapv:UnspecifiedMatching -DOID:0080376 trichorhinophalangeal syndrome type III oboInOwl:hasDbXref OMIM:190351 semapv:UnspecifiedMatching DOID:0080376 trichorhinophalangeal syndrome type III oboInOwl:hasDbXref ORDO:77258 semapv:UnspecifiedMatching -DOID:0080376 trichorhinophalangeal syndrome type III skos:exactMatch OMIM:190351 semapv:UnspecifiedMatching -DOID:0080377 peroxisomal biogenesis disorder oboInOwl:hasDbXref OMIMPS:214100 semapv:UnspecifiedMatching -DOID:0080377 peroxisomal biogenesis disorder skos:exactMatch OMIMPS:214100 semapv:UnspecifiedMatching -DOID:0080379 nephrotic syndrome type 2 oboInOwl:hasDbXref OMIM:600995 semapv:UnspecifiedMatching -DOID:0080379 nephrotic syndrome type 2 skos:exactMatch OMIM:600995 semapv:UnspecifiedMatching -DOID:0080380 nephrotic syndrome type 5 oboInOwl:hasDbXref OMIM:614199 semapv:UnspecifiedMatching -DOID:0080380 nephrotic syndrome type 5 skos:exactMatch OMIM:614199 semapv:UnspecifiedMatching -DOID:0080381 nephrotic syndrome type 13 oboInOwl:hasDbXref OMIM:616893 semapv:UnspecifiedMatching -DOID:0080381 nephrotic syndrome type 13 skos:exactMatch OMIM:616893 semapv:UnspecifiedMatching -DOID:0080382 nephrotic syndrome type 3 oboInOwl:hasDbXref OMIM:610725 semapv:UnspecifiedMatching -DOID:0080382 nephrotic syndrome type 3 skos:exactMatch OMIM:610725 semapv:UnspecifiedMatching -DOID:0080383 nephrotic syndrome type 4 oboInOwl:hasDbXref OMIM:256370 semapv:UnspecifiedMatching -DOID:0080383 nephrotic syndrome type 4 skos:exactMatch OMIM:256370 semapv:UnspecifiedMatching -DOID:0080384 nephrotic syndrome type 6 oboInOwl:hasDbXref OMIM:614196 semapv:UnspecifiedMatching -DOID:0080384 nephrotic syndrome type 6 skos:exactMatch OMIM:614196 semapv:UnspecifiedMatching -DOID:0080385 nephrotic syndrome type 11 oboInOwl:hasDbXref OMIM:616730 semapv:UnspecifiedMatching -DOID:0080385 nephrotic syndrome type 11 skos:exactMatch OMIM:616730 semapv:UnspecifiedMatching -DOID:0080386 nephrotic syndrome type 10 oboInOwl:hasDbXref OMIM:615861 semapv:UnspecifiedMatching -DOID:0080386 nephrotic syndrome type 10 skos:exactMatch OMIM:615861 semapv:UnspecifiedMatching -DOID:0080387 nephrotic syndrome type 12 oboInOwl:hasDbXref OMIM:616892 semapv:UnspecifiedMatching -DOID:0080387 nephrotic syndrome type 12 skos:exactMatch OMIM:616892 semapv:UnspecifiedMatching -DOID:0080388 nephrotic syndrome type 7 oboInOwl:hasDbXref OMIM:615008 semapv:UnspecifiedMatching DOID:0080388 nephrotic syndrome type 7 oboInOwl:hasDbXref ORDO:329903 semapv:UnspecifiedMatching -DOID:0080388 nephrotic syndrome type 7 skos:exactMatch OMIM:615008 semapv:UnspecifiedMatching -DOID:0080389 nephrotic syndrome type 8 oboInOwl:hasDbXref OMIM:615244 semapv:UnspecifiedMatching -DOID:0080389 nephrotic syndrome type 8 skos:exactMatch OMIM:615244 semapv:UnspecifiedMatching DOID:0080390 nephrotic syndrome type 1 oboInOwl:hasDbXref GARD:1500 semapv:UnspecifiedMatching DOID:0080390 nephrotic syndrome type 1 oboInOwl:hasDbXref MEDDRA:10060740 semapv:UnspecifiedMatching DOID:0080390 nephrotic syndrome type 1 oboInOwl:hasDbXref NCI:C122795 semapv:UnspecifiedMatching -DOID:0080390 nephrotic syndrome type 1 oboInOwl:hasDbXref OMIM:256300 semapv:UnspecifiedMatching DOID:0080390 nephrotic syndrome type 1 oboInOwl:hasDbXref ORDO:839 semapv:UnspecifiedMatching DOID:0080390 nephrotic syndrome type 1 oboInOwl:hasDbXref UMLS:C0403399 semapv:UnspecifiedMatching -DOID:0080390 nephrotic syndrome type 1 skos:exactMatch OMIM:256300 semapv:UnspecifiedMatching -DOID:0080391 nephrotic syndrome type 9 oboInOwl:hasDbXref OMIM:615573 semapv:UnspecifiedMatching -DOID:0080391 nephrotic syndrome type 9 skos:exactMatch OMIM:615573 semapv:UnspecifiedMatching -DOID:0080392 nephrotic syndrome type 17 oboInOwl:hasDbXref OMIM:618176 semapv:UnspecifiedMatching -DOID:0080392 nephrotic syndrome type 17 skos:exactMatch OMIM:618176 semapv:UnspecifiedMatching -DOID:0080393 nephrotic syndrome type 18 oboInOwl:hasDbXref OMIM:618177 semapv:UnspecifiedMatching -DOID:0080393 nephrotic syndrome type 18 skos:exactMatch OMIM:618177 semapv:UnspecifiedMatching -DOID:0080394 nephrotic syndrome type 19 oboInOwl:hasDbXref OMIM:618178 semapv:UnspecifiedMatching -DOID:0080394 nephrotic syndrome type 19 skos:exactMatch OMIM:618178 semapv:UnspecifiedMatching DOID:0080395 orofacial cleft 1 oboInOwl:hasDbXref MESH:C566121 semapv:UnspecifiedMatching -DOID:0080395 orofacial cleft 1 oboInOwl:hasDbXref OMIM:119530 semapv:UnspecifiedMatching -DOID:0080395 orofacial cleft 1 skos:exactMatch OMIM:119530 semapv:UnspecifiedMatching DOID:0080396 orofacial cleft 2 oboInOwl:hasDbXref MESH:C566419 semapv:UnspecifiedMatching -DOID:0080396 orofacial cleft 2 oboInOwl:hasDbXref OMIM:602966 semapv:UnspecifiedMatching -DOID:0080396 orofacial cleft 2 skos:exactMatch OMIM:602966 semapv:UnspecifiedMatching DOID:0080397 orofacial cleft 3 oboInOwl:hasDbXref MESH:C563448 semapv:UnspecifiedMatching -DOID:0080397 orofacial cleft 3 oboInOwl:hasDbXref OMIM:600757 semapv:UnspecifiedMatching -DOID:0080397 orofacial cleft 3 skos:exactMatch OMIM:600757 semapv:UnspecifiedMatching DOID:0080398 orofacial cleft 4 oboInOwl:hasDbXref MESH:C564251 semapv:UnspecifiedMatching -DOID:0080398 orofacial cleft 4 oboInOwl:hasDbXref OMIM:608371 semapv:UnspecifiedMatching -DOID:0080398 orofacial cleft 4 skos:exactMatch OMIM:608371 semapv:UnspecifiedMatching DOID:0080399 orofacial cleft 5 oboInOwl:hasDbXref MESH:C563843 semapv:UnspecifiedMatching -DOID:0080399 orofacial cleft 5 oboInOwl:hasDbXref OMIM:608874 semapv:UnspecifiedMatching -DOID:0080399 orofacial cleft 5 skos:exactMatch OMIM:608874 semapv:UnspecifiedMatching DOID:0080400 orofacial cleft 7 oboInOwl:hasDbXref MESH:C563464 semapv:UnspecifiedMatching DOID:0080400 orofacial cleft 7 skos:exactMatch MESH:C563464 semapv:UnspecifiedMatching -DOID:0080401 orofacial cleft 8 oboInOwl:hasDbXref OMIM:618149 semapv:UnspecifiedMatching -DOID:0080401 orofacial cleft 8 skos:exactMatch OMIM:618149 semapv:UnspecifiedMatching DOID:0080402 orofacial cleft 9 oboInOwl:hasDbXref MESH:C563675 semapv:UnspecifiedMatching -DOID:0080402 orofacial cleft 9 oboInOwl:hasDbXref OMIM:610361 semapv:UnspecifiedMatching -DOID:0080402 orofacial cleft 9 skos:exactMatch OMIM:610361 semapv:UnspecifiedMatching DOID:0080403 orofacial cleft 10 oboInOwl:hasDbXref MESH:C566605 semapv:UnspecifiedMatching -DOID:0080403 orofacial cleft 10 oboInOwl:hasDbXref OMIM:613705 semapv:UnspecifiedMatching -DOID:0080403 orofacial cleft 10 skos:exactMatch OMIM:613705 semapv:UnspecifiedMatching DOID:0080404 orofacial cleft 11 oboInOwl:hasDbXref MESH:C567410 semapv:UnspecifiedMatching -DOID:0080404 orofacial cleft 11 oboInOwl:hasDbXref OMIM:600625 semapv:UnspecifiedMatching -DOID:0080404 orofacial cleft 11 skos:exactMatch OMIM:600625 semapv:UnspecifiedMatching DOID:0080405 orofacial cleft 12 oboInOwl:hasDbXref MESH:C567548 semapv:UnspecifiedMatching -DOID:0080405 orofacial cleft 12 oboInOwl:hasDbXref OMIM:612858 semapv:UnspecifiedMatching -DOID:0080405 orofacial cleft 12 skos:exactMatch OMIM:612858 semapv:UnspecifiedMatching -DOID:0080406 orofacial cleft 13 oboInOwl:hasDbXref OMIM:613857 semapv:UnspecifiedMatching -DOID:0080406 orofacial cleft 13 skos:exactMatch OMIM:613857 semapv:UnspecifiedMatching -DOID:0080407 orofacial cleft 14 oboInOwl:hasDbXref OMIM:615892 semapv:UnspecifiedMatching -DOID:0080407 orofacial cleft 14 skos:exactMatch OMIM:615892 semapv:UnspecifiedMatching -DOID:0080408 orofacial cleft 15 oboInOwl:hasDbXref OMIM:616788 semapv:UnspecifiedMatching -DOID:0080408 orofacial cleft 15 skos:exactMatch OMIM:616788 semapv:UnspecifiedMatching -DOID:0080409 familial adenomatous polyposis 1 oboInOwl:hasDbXref OMIM:175100 semapv:UnspecifiedMatching -DOID:0080409 familial adenomatous polyposis 1 skos:exactMatch OMIM:175100 semapv:UnspecifiedMatching DOID:0080410 familial adenomatous polyposis 2 oboInOwl:hasDbXref ICD10CM:D12.6 semapv:UnspecifiedMatching -DOID:0080410 familial adenomatous polyposis 2 oboInOwl:hasDbXref OMIM:608456 semapv:UnspecifiedMatching DOID:0080410 familial adenomatous polyposis 2 oboInOwl:hasDbXref ORDO:247798 semapv:UnspecifiedMatching -DOID:0080410 familial adenomatous polyposis 2 skos:exactMatch OMIM:608456 semapv:UnspecifiedMatching -DOID:0080411 familial adenomatous polyposis 3 oboInOwl:hasDbXref OMIM:616415 semapv:UnspecifiedMatching -DOID:0080411 familial adenomatous polyposis 3 skos:exactMatch OMIM:616415 semapv:UnspecifiedMatching -DOID:0080412 familial adenomatous polyposis 4 oboInOwl:hasDbXref OMIM:617100 semapv:UnspecifiedMatching -DOID:0080412 familial adenomatous polyposis 4 skos:exactMatch OMIM:617100 semapv:UnspecifiedMatching DOID:0080413 developmental and epileptic encephalopathy 18 oboInOwl:hasDbXref GARD:13676 semapv:UnspecifiedMatching -DOID:0080413 developmental and epileptic encephalopathy 18 oboInOwl:hasDbXref OMIM:615476 semapv:UnspecifiedMatching -DOID:0080413 developmental and epileptic encephalopathy 18 skos:exactMatch OMIM:615476 semapv:UnspecifiedMatching -DOID:0080414 developmental and epileptic encephalopathy 15 oboInOwl:hasDbXref OMIM:615006 semapv:UnspecifiedMatching -DOID:0080414 developmental and epileptic encephalopathy 15 skos:exactMatch OMIM:615006 semapv:UnspecifiedMatching -DOID:0080415 developmental and epileptic encephalopathy 23 oboInOwl:hasDbXref OMIM:615859 semapv:UnspecifiedMatching DOID:0080415 developmental and epileptic encephalopathy 23 oboInOwl:hasDbXref ORDO:411986 semapv:UnspecifiedMatching -DOID:0080415 developmental and epileptic encephalopathy 23 skos:exactMatch OMIM:615859 semapv:UnspecifiedMatching -DOID:0080416 developmental and epileptic encephalopathy 32 oboInOwl:hasDbXref OMIM:616366 semapv:UnspecifiedMatching -DOID:0080416 developmental and epileptic encephalopathy 32 skos:exactMatch OMIM:616366 semapv:UnspecifiedMatching -DOID:0080417 developmental and epileptic encephalopathy 38 oboInOwl:hasDbXref OMIM:617020 semapv:UnspecifiedMatching -DOID:0080417 developmental and epileptic encephalopathy 38 skos:exactMatch OMIM:617020 semapv:UnspecifiedMatching -DOID:0080418 developmental and epileptic encephalopathy 54 oboInOwl:hasDbXref OMIM:617391 semapv:UnspecifiedMatching -DOID:0080418 developmental and epileptic encephalopathy 54 skos:exactMatch OMIM:617391 semapv:UnspecifiedMatching DOID:0080419 developmental and epileptic encephalopathy 50 oboInOwl:hasDbXref GARD:13621 semapv:UnspecifiedMatching -DOID:0080419 developmental and epileptic encephalopathy 50 oboInOwl:hasDbXref OMIM:616457 semapv:UnspecifiedMatching DOID:0080419 developmental and epileptic encephalopathy 50 oboInOwl:hasDbXref ORDO:448010 semapv:UnspecifiedMatching -DOID:0080419 developmental and epileptic encephalopathy 50 skos:exactMatch OMIM:616457 semapv:UnspecifiedMatching -DOID:0080420 developmental and epileptic encephalopathy 62 oboInOwl:hasDbXref OMIM:617938 semapv:UnspecifiedMatching -DOID:0080420 developmental and epileptic encephalopathy 62 skos:exactMatch OMIM:617938 semapv:UnspecifiedMatching -DOID:0080421 developmental and epileptic encephalopathy 11 oboInOwl:hasDbXref OMIM:613721 semapv:UnspecifiedMatching -DOID:0080421 developmental and epileptic encephalopathy 11 skos:exactMatch OMIM:613721 semapv:UnspecifiedMatching DOID:0080422 Dravet syndrome oboInOwl:hasDbXref GARD:10430 semapv:UnspecifiedMatching -DOID:0080422 Dravet syndrome oboInOwl:hasDbXref OMIM:607208 semapv:UnspecifiedMatching DOID:0080422 Dravet syndrome oboInOwl:hasDbXref ORDO:33069 semapv:UnspecifiedMatching -DOID:0080422 Dravet syndrome skos:exactMatch OMIM:607208 semapv:UnspecifiedMatching -DOID:0080424 developmental and epileptic encephalopathy 44 oboInOwl:hasDbXref OMIM:617132 semapv:UnspecifiedMatching -DOID:0080424 developmental and epileptic encephalopathy 44 skos:exactMatch OMIM:617132 semapv:UnspecifiedMatching -DOID:0080425 developmental and epileptic encephalopathy 47 oboInOwl:hasDbXref OMIM:617166 semapv:UnspecifiedMatching -DOID:0080425 developmental and epileptic encephalopathy 47 skos:exactMatch OMIM:617166 semapv:UnspecifiedMatching -DOID:0080426 developmental and epileptic encephalopathy 63 oboInOwl:hasDbXref OMIM:617976 semapv:UnspecifiedMatching -DOID:0080426 developmental and epileptic encephalopathy 63 skos:exactMatch OMIM:617976 semapv:UnspecifiedMatching -DOID:0080427 developmental and epileptic encephalopathy 40 oboInOwl:hasDbXref OMIM:617065 semapv:UnspecifiedMatching -DOID:0080427 developmental and epileptic encephalopathy 40 skos:exactMatch OMIM:617065 semapv:UnspecifiedMatching -DOID:0080428 developmental and epileptic encephalopathy 45 oboInOwl:hasDbXref OMIM:617153 semapv:UnspecifiedMatching -DOID:0080428 developmental and epileptic encephalopathy 45 skos:exactMatch OMIM:617153 semapv:UnspecifiedMatching -DOID:0080429 developmental and epileptic encephalopathy 24 oboInOwl:hasDbXref OMIM:615871 semapv:UnspecifiedMatching -DOID:0080429 developmental and epileptic encephalopathy 24 skos:exactMatch OMIM:615871 semapv:UnspecifiedMatching -DOID:0080430 developmental and epileptic encephalopathy 65 oboInOwl:hasDbXref OMIM:618008 semapv:UnspecifiedMatching -DOID:0080430 developmental and epileptic encephalopathy 65 skos:exactMatch OMIM:618008 semapv:UnspecifiedMatching -DOID:0080431 developmental and epileptic encephalopathy 19 oboInOwl:hasDbXref OMIM:615744 semapv:UnspecifiedMatching -DOID:0080431 developmental and epileptic encephalopathy 19 skos:exactMatch OMIM:615744 semapv:UnspecifiedMatching -DOID:0080432 developmental and epileptic encephalopathy 60 oboInOwl:hasDbXref OMIM:617929 semapv:UnspecifiedMatching -DOID:0080432 developmental and epileptic encephalopathy 60 skos:exactMatch OMIM:617929 semapv:UnspecifiedMatching -DOID:0080433 developmental and epileptic encephalopathy 51 oboInOwl:hasDbXref OMIM:617339 semapv:UnspecifiedMatching -DOID:0080433 developmental and epileptic encephalopathy 51 skos:exactMatch OMIM:617339 semapv:UnspecifiedMatching -DOID:0080434 developmental and epileptic encephalopathy 61 oboInOwl:hasDbXref OMIM:617933 semapv:UnspecifiedMatching -DOID:0080434 developmental and epileptic encephalopathy 61 skos:exactMatch OMIM:617933 semapv:UnspecifiedMatching -DOID:0080435 developmental and epileptic encephalopathy 37 oboInOwl:hasDbXref OMIM:616981 semapv:UnspecifiedMatching -DOID:0080435 developmental and epileptic encephalopathy 37 skos:exactMatch OMIM:616981 semapv:UnspecifiedMatching -DOID:0080436 developmental and epileptic encephalopathy 4 oboInOwl:hasDbXref OMIM:612164 semapv:UnspecifiedMatching -DOID:0080436 developmental and epileptic encephalopathy 4 skos:exactMatch OMIM:612164 semapv:UnspecifiedMatching -DOID:0080437 developmental and epileptic encephalopathy 31A oboInOwl:hasDbXref OMIM:616346 semapv:UnspecifiedMatching -DOID:0080437 developmental and epileptic encephalopathy 31A skos:exactMatch OMIM:616346 semapv:UnspecifiedMatching -DOID:0080438 developmental and epileptic encephalopathy 5 oboInOwl:hasDbXref OMIM:613477 semapv:UnspecifiedMatching -DOID:0080438 developmental and epileptic encephalopathy 5 skos:exactMatch OMIM:613477 semapv:UnspecifiedMatching -DOID:0080439 developmental and epileptic encephalopathy 14 oboInOwl:hasDbXref OMIM:614959 semapv:UnspecifiedMatching -DOID:0080439 developmental and epileptic encephalopathy 14 skos:exactMatch OMIM:614959 semapv:UnspecifiedMatching -DOID:0080440 developmental and epileptic encephalopathy 3 oboInOwl:hasDbXref OMIM:609304 semapv:UnspecifiedMatching -DOID:0080440 developmental and epileptic encephalopathy 3 skos:exactMatch OMIM:609304 semapv:UnspecifiedMatching -DOID:0080441 developmental and epileptic encephalopathy 49 oboInOwl:hasDbXref OMIM:617281 semapv:UnspecifiedMatching -DOID:0080441 developmental and epileptic encephalopathy 49 skos:exactMatch OMIM:617281 semapv:UnspecifiedMatching -DOID:0080442 developmental and epileptic encephalopathy 41 oboInOwl:hasDbXref OMIM:617105 semapv:UnspecifiedMatching -DOID:0080442 developmental and epileptic encephalopathy 41 skos:exactMatch OMIM:617105 semapv:UnspecifiedMatching -DOID:0080443 developmental and epileptic encephalopathy 21 oboInOwl:hasDbXref OMIM:615833 semapv:UnspecifiedMatching -DOID:0080443 developmental and epileptic encephalopathy 21 skos:exactMatch OMIM:615833 semapv:UnspecifiedMatching -DOID:0080444 developmental and epileptic encephalopathy 27 oboInOwl:hasDbXref OMIM:616139 semapv:UnspecifiedMatching -DOID:0080444 developmental and epileptic encephalopathy 27 skos:exactMatch OMIM:616139 semapv:UnspecifiedMatching -DOID:0080445 developmental and epileptic encephalopathy 13 oboInOwl:hasDbXref OMIM:614558 semapv:UnspecifiedMatching -DOID:0080445 developmental and epileptic encephalopathy 13 skos:exactMatch OMIM:614558 semapv:UnspecifiedMatching -DOID:0080446 developmental and epileptic encephalopathy 66 oboInOwl:hasDbXref OMIM:618067 semapv:UnspecifiedMatching -DOID:0080446 developmental and epileptic encephalopathy 66 skos:exactMatch OMIM:618067 semapv:UnspecifiedMatching -DOID:0080447 developmental and epileptic encephalopathy 43 oboInOwl:hasDbXref OMIM:617113 semapv:UnspecifiedMatching -DOID:0080447 developmental and epileptic encephalopathy 43 skos:exactMatch OMIM:617113 semapv:UnspecifiedMatching -DOID:0080448 developmental and epileptic encephalopathy 48 oboInOwl:hasDbXref OMIM:617276 semapv:UnspecifiedMatching -DOID:0080448 developmental and epileptic encephalopathy 48 skos:exactMatch OMIM:617276 semapv:UnspecifiedMatching -DOID:0080449 developmental and epileptic encephalopathy 16 oboInOwl:hasDbXref OMIM:615338 semapv:UnspecifiedMatching DOID:0080449 developmental and epileptic encephalopathy 16 oboInOwl:hasDbXref ORDO:352596 semapv:UnspecifiedMatching -DOID:0080449 developmental and epileptic encephalopathy 16 skos:exactMatch OMIM:615338 semapv:UnspecifiedMatching -DOID:0080450 developmental and epileptic encephalopathy 17 oboInOwl:hasDbXref OMIM:615473 semapv:UnspecifiedMatching -DOID:0080450 developmental and epileptic encephalopathy 17 skos:exactMatch OMIM:615473 semapv:UnspecifiedMatching -DOID:0080451 developmental and epileptic encephalopathy 29 oboInOwl:hasDbXref OMIM:616339 semapv:UnspecifiedMatching -DOID:0080451 developmental and epileptic encephalopathy 29 skos:exactMatch OMIM:616339 semapv:UnspecifiedMatching -DOID:0080452 developmental and epileptic encephalopathy 28 oboInOwl:hasDbXref OMIM:616211 semapv:UnspecifiedMatching -DOID:0080452 developmental and epileptic encephalopathy 28 skos:exactMatch OMIM:616211 semapv:UnspecifiedMatching DOID:0080453 developmental and epileptic encephalopathy 25 oboInOwl:hasDbXref GARD:12901 semapv:UnspecifiedMatching -DOID:0080453 developmental and epileptic encephalopathy 25 oboInOwl:hasDbXref OMIM:615905 semapv:UnspecifiedMatching -DOID:0080453 developmental and epileptic encephalopathy 25 skos:exactMatch OMIM:615905 semapv:UnspecifiedMatching -DOID:0080454 developmental and epileptic encephalopathy 42 oboInOwl:hasDbXref OMIM:617106 semapv:UnspecifiedMatching -DOID:0080454 developmental and epileptic encephalopathy 42 skos:exactMatch OMIM:617106 semapv:UnspecifiedMatching -DOID:0080455 developmental and epileptic encephalopathy 52 oboInOwl:hasDbXref OMIM:617350 semapv:UnspecifiedMatching -DOID:0080455 developmental and epileptic encephalopathy 52 skos:exactMatch OMIM:617350 semapv:UnspecifiedMatching -DOID:0080456 developmental and epileptic encephalopathy 46 oboInOwl:hasDbXref OMIM:617162 semapv:UnspecifiedMatching -DOID:0080456 developmental and epileptic encephalopathy 46 skos:exactMatch OMIM:617162 semapv:UnspecifiedMatching -DOID:0080457 microcephaly, seizures, and developmental delay oboInOwl:hasDbXref OMIM:613402 semapv:UnspecifiedMatching -DOID:0080457 microcephaly, seizures, and developmental delay skos:exactMatch OMIM:613402 semapv:UnspecifiedMatching -DOID:0080458 developmental and epileptic encephalopathy 35 oboInOwl:hasDbXref OMIM:616647 semapv:UnspecifiedMatching DOID:0080458 developmental and epileptic encephalopathy 35 oboInOwl:hasDbXref ORDO:457375 semapv:UnspecifiedMatching -DOID:0080458 developmental and epileptic encephalopathy 35 skos:exactMatch OMIM:616647 semapv:UnspecifiedMatching -DOID:0080459 developmental and epileptic encephalopathy 12 oboInOwl:hasDbXref OMIM:613722 semapv:UnspecifiedMatching -DOID:0080459 developmental and epileptic encephalopathy 12 skos:exactMatch OMIM:613722 semapv:UnspecifiedMatching -DOID:0080460 developmental and epileptic encephalopathy 34 oboInOwl:hasDbXref OMIM:616645 semapv:UnspecifiedMatching -DOID:0080460 developmental and epileptic encephalopathy 34 skos:exactMatch OMIM:616645 semapv:UnspecifiedMatching DOID:0080461 developmental and epileptic encephalopathy 26 oboInOwl:hasDbXref GARD:12391 semapv:UnspecifiedMatching -DOID:0080461 developmental and epileptic encephalopathy 26 oboInOwl:hasDbXref OMIM:616056 semapv:UnspecifiedMatching -DOID:0080461 developmental and epileptic encephalopathy 26 skos:exactMatch OMIM:616056 semapv:UnspecifiedMatching -DOID:0080462 developmental and epileptic encephalopathy 7 oboInOwl:hasDbXref OMIM:613720 semapv:UnspecifiedMatching DOID:0080462 developmental and epileptic encephalopathy 7 oboInOwl:hasDbXref ORDO:439218 semapv:UnspecifiedMatching -DOID:0080462 developmental and epileptic encephalopathy 7 skos:exactMatch OMIM:613720 semapv:UnspecifiedMatching -DOID:0080463 developmental and epileptic encephalopathy 33 oboInOwl:hasDbXref OMIM:616409 semapv:UnspecifiedMatching -DOID:0080463 developmental and epileptic encephalopathy 33 skos:exactMatch OMIM:616409 semapv:UnspecifiedMatching -DOID:0080464 developmental and epileptic encephalopathy 53 oboInOwl:hasDbXref OMIM:617389 semapv:UnspecifiedMatching -DOID:0080464 developmental and epileptic encephalopathy 53 skos:exactMatch OMIM:617389 semapv:UnspecifiedMatching -DOID:0080465 developmental and epileptic encephalopathy 30 oboInOwl:hasDbXref OMIM:616341 semapv:UnspecifiedMatching -DOID:0080465 developmental and epileptic encephalopathy 30 skos:exactMatch OMIM:616341 semapv:UnspecifiedMatching -DOID:0080467 developmental and epileptic encephalopathy 2 oboInOwl:hasDbXref OMIM:300672 semapv:UnspecifiedMatching -DOID:0080467 developmental and epileptic encephalopathy 2 skos:exactMatch OMIM:300672 semapv:UnspecifiedMatching -DOID:0080468 developmental and epileptic encephalopathy 1 oboInOwl:hasDbXref OMIM:308350 semapv:UnspecifiedMatching -DOID:0080468 developmental and epileptic encephalopathy 1 skos:exactMatch OMIM:308350 semapv:UnspecifiedMatching DOID:0080470 developmental and epileptic encephalopathy 36 oboInOwl:hasDbXref GARD:12401 semapv:UnspecifiedMatching -DOID:0080470 developmental and epileptic encephalopathy 36 oboInOwl:hasDbXref OMIM:300884 semapv:UnspecifiedMatching DOID:0080470 developmental and epileptic encephalopathy 36 oboInOwl:hasDbXref ORDO:324422 semapv:UnspecifiedMatching -DOID:0080470 developmental and epileptic encephalopathy 36 skos:exactMatch OMIM:300884 semapv:UnspecifiedMatching -DOID:0080471 developmental and epileptic encephalopathy 92 oboInOwl:hasDbXref OMIM:617829 semapv:UnspecifiedMatching -DOID:0080471 developmental and epileptic encephalopathy 92 skos:exactMatch OMIM:617829 semapv:UnspecifiedMatching -DOID:0080472 developmental and epileptic encephalopathy 91 oboInOwl:hasDbXref OMIM:617711 semapv:UnspecifiedMatching -DOID:0080472 developmental and epileptic encephalopathy 91 skos:exactMatch OMIM:617711 semapv:UnspecifiedMatching -DOID:0080473 developmental delay and seizures with or without movement abnormalities oboInOwl:hasDbXref OMIM:617836 semapv:UnspecifiedMatching -DOID:0080473 developmental delay and seizures with or without movement abnormalities skos:exactMatch OMIM:617836 semapv:UnspecifiedMatching DOID:0080474 pustular psoriasis 14 oboInOwl:hasDbXref ICD10CM:L40.1 semapv:UnspecifiedMatching -DOID:0080474 pustular psoriasis 14 oboInOwl:hasDbXref OMIM:614204 semapv:UnspecifiedMatching DOID:0080474 pustular psoriasis 14 oboInOwl:hasDbXref ORDO:404546 semapv:UnspecifiedMatching -DOID:0080474 pustular psoriasis 14 skos:exactMatch OMIM:614204 semapv:UnspecifiedMatching -DOID:0080475 psoriasis 2 oboInOwl:hasDbXref OMIM:602723 semapv:UnspecifiedMatching -DOID:0080475 psoriasis 2 skos:exactMatch OMIM:602723 semapv:UnspecifiedMatching -DOID:0080476 peroxisome biogenesis disorder 1A oboInOwl:hasDbXref OMIM:214100 semapv:UnspecifiedMatching -DOID:0080476 peroxisome biogenesis disorder 1A skos:exactMatch OMIM:214100 semapv:UnspecifiedMatching -DOID:0080477 peroxisome biogenesis disorder 2A oboInOwl:hasDbXref OMIM:214110 semapv:UnspecifiedMatching -DOID:0080477 peroxisome biogenesis disorder 2A skos:exactMatch OMIM:214110 semapv:UnspecifiedMatching -DOID:0080478 peroxisome biogenesis disorder 3A oboInOwl:hasDbXref OMIM:614859 semapv:UnspecifiedMatching -DOID:0080478 peroxisome biogenesis disorder 3A skos:exactMatch OMIM:614859 semapv:UnspecifiedMatching -DOID:0080479 peroxisome biogenesis disorder 4A oboInOwl:hasDbXref OMIM:614862 semapv:UnspecifiedMatching -DOID:0080479 peroxisome biogenesis disorder 4A skos:exactMatch OMIM:614862 semapv:UnspecifiedMatching -DOID:0080480 peroxisome biogenesis disorder 5A oboInOwl:hasDbXref OMIM:614866 semapv:UnspecifiedMatching -DOID:0080480 peroxisome biogenesis disorder 5A skos:exactMatch OMIM:614866 semapv:UnspecifiedMatching -DOID:0080481 peroxisome biogenesis disorder 6A oboInOwl:hasDbXref OMIM:614870 semapv:UnspecifiedMatching -DOID:0080481 peroxisome biogenesis disorder 6A skos:exactMatch OMIM:614870 semapv:UnspecifiedMatching -DOID:0080482 peroxisome biogenesis disorder 7A oboInOwl:hasDbXref OMIM:614872 semapv:UnspecifiedMatching -DOID:0080482 peroxisome biogenesis disorder 7A skos:exactMatch OMIM:614872 semapv:UnspecifiedMatching -DOID:0080483 peroxisome biogenesis disorder 8A oboInOwl:hasDbXref OMIM:614876 semapv:UnspecifiedMatching -DOID:0080483 peroxisome biogenesis disorder 8A skos:exactMatch OMIM:614876 semapv:UnspecifiedMatching -DOID:0080484 peroxisome biogenesis disorder 10A oboInOwl:hasDbXref OMIM:614882 semapv:UnspecifiedMatching -DOID:0080484 peroxisome biogenesis disorder 10A skos:exactMatch OMIM:614882 semapv:UnspecifiedMatching -DOID:0080485 peroxisome biogenesis disorder 11A oboInOwl:hasDbXref OMIM:614883 semapv:UnspecifiedMatching -DOID:0080485 peroxisome biogenesis disorder 11A skos:exactMatch OMIM:614883 semapv:UnspecifiedMatching -DOID:0080486 peroxisome biogenesis disorder 12A oboInOwl:hasDbXref OMIM:614886 semapv:UnspecifiedMatching -DOID:0080486 peroxisome biogenesis disorder 12A skos:exactMatch OMIM:614886 semapv:UnspecifiedMatching -DOID:0080487 peroxisome biogenesis disorder 13A oboInOwl:hasDbXref OMIM:614887 semapv:UnspecifiedMatching -DOID:0080487 peroxisome biogenesis disorder 13A skos:exactMatch OMIM:614887 semapv:UnspecifiedMatching DOID:0080489 GM1 gangliosidosis type 3 oboInOwl:hasDbXref GARD:2431 semapv:UnspecifiedMatching -DOID:0080489 GM1 gangliosidosis type 3 oboInOwl:hasDbXref OMIM:230650 semapv:UnspecifiedMatching DOID:0080489 GM1 gangliosidosis type 3 oboInOwl:hasDbXref ORDO:79257 semapv:UnspecifiedMatching -DOID:0080489 GM1 gangliosidosis type 3 skos:exactMatch OMIM:230650 semapv:UnspecifiedMatching DOID:0080490 mucolipidosis type IV oboInOwl:hasDbXref GARD:94 semapv:UnspecifiedMatching -DOID:0080490 mucolipidosis type IV oboInOwl:hasDbXref OMIM:252650 semapv:UnspecifiedMatching DOID:0080490 mucolipidosis type IV oboInOwl:hasDbXref ORDO:578 semapv:UnspecifiedMatching -DOID:0080490 mucolipidosis type IV skos:exactMatch OMIM:252650 semapv:UnspecifiedMatching -DOID:0080491 cerebral cavernous malformation 1 oboInOwl:hasDbXref OMIM:116860 semapv:UnspecifiedMatching -DOID:0080491 cerebral cavernous malformation 1 skos:exactMatch OMIM:116860 semapv:UnspecifiedMatching DOID:0080492 leukocyte adhesion deficiency 2 oboInOwl:hasDbXref ORDO:99843 semapv:UnspecifiedMatching -DOID:0080493 ovarian dysgenesis 1 oboInOwl:hasDbXref OMIM:233300 semapv:UnspecifiedMatching -DOID:0080493 ovarian dysgenesis 1 skos:exactMatch OMIM:233300 semapv:UnspecifiedMatching DOID:0080494 ovarian dysgenesis 2 oboInOwl:hasDbXref MESH:C564499 semapv:UnspecifiedMatching -DOID:0080494 ovarian dysgenesis 2 oboInOwl:hasDbXref OMIM:300510 semapv:UnspecifiedMatching -DOID:0080494 ovarian dysgenesis 2 skos:exactMatch OMIM:300510 semapv:UnspecifiedMatching -DOID:0080495 ovarian dysgenesis 3 oboInOwl:hasDbXref OMIM:614324 semapv:UnspecifiedMatching -DOID:0080495 ovarian dysgenesis 3 skos:exactMatch OMIM:614324 semapv:UnspecifiedMatching -DOID:0080496 ovarian dysgenesis 4 oboInOwl:hasDbXref OMIM:616185 semapv:UnspecifiedMatching -DOID:0080496 ovarian dysgenesis 4 skos:exactMatch OMIM:616185 semapv:UnspecifiedMatching -DOID:0080497 ovarian dysgenesis 5 oboInOwl:hasDbXref OMIM:617690 semapv:UnspecifiedMatching -DOID:0080497 ovarian dysgenesis 5 skos:exactMatch OMIM:617690 semapv:UnspecifiedMatching -DOID:0080498 ovarian dysgenesis 6 oboInOwl:hasDbXref OMIM:618078 semapv:UnspecifiedMatching -DOID:0080498 ovarian dysgenesis 6 skos:exactMatch OMIM:618078 semapv:UnspecifiedMatching -DOID:0080499 ovarian dysgenesis 7 oboInOwl:hasDbXref OMIM:618117 semapv:UnspecifiedMatching -DOID:0080499 ovarian dysgenesis 7 skos:exactMatch OMIM:618117 semapv:UnspecifiedMatching -DOID:0080500 ovarian dysgenesis 8 oboInOwl:hasDbXref OMIM:618187 semapv:UnspecifiedMatching -DOID:0080500 ovarian dysgenesis 8 skos:exactMatch OMIM:618187 semapv:UnspecifiedMatching -DOID:0080501 GM1 gangliosidosis type 2 oboInOwl:hasDbXref OMIM:230600 semapv:UnspecifiedMatching -DOID:0080501 GM1 gangliosidosis type 2 skos:exactMatch OMIM:230600 semapv:UnspecifiedMatching DOID:0080502 GM1 gangliosidosis type 1 oboInOwl:hasDbXref GARD:6479 semapv:UnspecifiedMatching -DOID:0080502 GM1 gangliosidosis type 1 oboInOwl:hasDbXref OMIM:230500 semapv:UnspecifiedMatching DOID:0080502 GM1 gangliosidosis type 1 oboInOwl:hasDbXref ORDO:79255 semapv:UnspecifiedMatching -DOID:0080502 GM1 gangliosidosis type 1 skos:exactMatch OMIM:230500 semapv:UnspecifiedMatching DOID:0080503 multiple congenital anomalies-hypotonia-seizures syndrome oboInOwl:hasDbXref GARD:12781 semapv:UnspecifiedMatching -DOID:0080503 multiple congenital anomalies-hypotonia-seizures syndrome oboInOwl:hasDbXref OMIMPS:614080 semapv:UnspecifiedMatching DOID:0080503 multiple congenital anomalies-hypotonia-seizures syndrome oboInOwl:hasDbXref ORDO:280633 semapv:UnspecifiedMatching -DOID:0080503 multiple congenital anomalies-hypotonia-seizures syndrome skos:exactMatch OMIMPS:614080 semapv:UnspecifiedMatching -DOID:0080504 Parkinson's disease 22 oboInOwl:hasDbXref OMIM:616710 semapv:UnspecifiedMatching -DOID:0080504 Parkinson's disease 22 skos:exactMatch OMIM:616710 semapv:UnspecifiedMatching -DOID:0080505 Cornelia de Lange syndrome 1 oboInOwl:hasDbXref OMIM:122470 semapv:UnspecifiedMatching -DOID:0080505 Cornelia de Lange syndrome 1 skos:exactMatch OMIM:122470 semapv:UnspecifiedMatching -DOID:0080506 Cornelia de Lange syndrome 2 oboInOwl:hasDbXref OMIM:300590 semapv:UnspecifiedMatching -DOID:0080506 Cornelia de Lange syndrome 2 skos:exactMatch OMIM:300590 semapv:UnspecifiedMatching -DOID:0080507 Cornelia de Lange syndrome 3 oboInOwl:hasDbXref OMIM:610759 semapv:UnspecifiedMatching -DOID:0080507 Cornelia de Lange syndrome 3 skos:exactMatch OMIM:610759 semapv:UnspecifiedMatching -DOID:0080508 Cornelia de Lange syndrome 4 oboInOwl:hasDbXref OMIM:614701 semapv:UnspecifiedMatching -DOID:0080508 Cornelia de Lange syndrome 4 skos:exactMatch OMIM:614701 semapv:UnspecifiedMatching -DOID:0080509 Cornelia de Lange syndrome 5 oboInOwl:hasDbXref OMIM:300882 semapv:UnspecifiedMatching -DOID:0080509 Cornelia de Lange syndrome 5 skos:exactMatch OMIM:300882 semapv:UnspecifiedMatching -DOID:0080510 epidermolysis bullosa simplex localized type oboInOwl:hasDbXref OMIM:131800 semapv:UnspecifiedMatching -DOID:0080510 epidermolysis bullosa simplex localized type skos:exactMatch OMIM:131800 semapv:UnspecifiedMatching -DOID:0080511 epidermolysis bullosa simplex generalized type oboInOwl:hasDbXref OMIM:131900 semapv:UnspecifiedMatching -DOID:0080511 epidermolysis bullosa simplex generalized type skos:exactMatch OMIM:131900 semapv:UnspecifiedMatching -DOID:0080512 Meier-Gorlin syndrome 1 oboInOwl:hasDbXref OMIM:224690 semapv:UnspecifiedMatching -DOID:0080512 Meier-Gorlin syndrome 1 skos:exactMatch OMIM:224690 semapv:UnspecifiedMatching -DOID:0080513 Meier-Gorlin syndrome 2 oboInOwl:hasDbXref OMIM:613800 semapv:UnspecifiedMatching -DOID:0080513 Meier-Gorlin syndrome 2 skos:exactMatch OMIM:613800 semapv:UnspecifiedMatching -DOID:0080514 Meier-Gorlin syndrome 3 oboInOwl:hasDbXref OMIM:613803 semapv:UnspecifiedMatching -DOID:0080514 Meier-Gorlin syndrome 3 skos:exactMatch OMIM:613803 semapv:UnspecifiedMatching -DOID:0080515 Meier-Gorlin syndrome 4 oboInOwl:hasDbXref OMIM:613804 semapv:UnspecifiedMatching -DOID:0080515 Meier-Gorlin syndrome 4 skos:exactMatch OMIM:613804 semapv:UnspecifiedMatching -DOID:0080516 Meier-Gorlin syndrome 5 oboInOwl:hasDbXref OMIM:613805 semapv:UnspecifiedMatching -DOID:0080516 Meier-Gorlin syndrome 5 skos:exactMatch OMIM:613805 semapv:UnspecifiedMatching -DOID:0080517 Meier-Gorlin syndrome 6 oboInOwl:hasDbXref OMIM:616835 semapv:UnspecifiedMatching -DOID:0080517 Meier-Gorlin syndrome 6 skos:exactMatch OMIM:616835 semapv:UnspecifiedMatching -DOID:0080518 Meier-Gorlin syndrome 7 oboInOwl:hasDbXref OMIM:617063 semapv:UnspecifiedMatching -DOID:0080518 Meier-Gorlin syndrome 7 skos:exactMatch OMIM:617063 semapv:UnspecifiedMatching -DOID:0080519 PAPA syndrome oboInOwl:hasDbXref OMIM:604416 semapv:UnspecifiedMatching DOID:0080519 PAPA syndrome oboInOwl:hasDbXref ORDO:69126 semapv:UnspecifiedMatching -DOID:0080519 PAPA syndrome skos:exactMatch OMIM:604416 semapv:UnspecifiedMatching -DOID:0080520 Tn polyagglutination syndrome oboInOwl:hasDbXref OMIM:300622 semapv:UnspecifiedMatching -DOID:0080520 Tn polyagglutination syndrome skos:exactMatch OMIM:300622 semapv:UnspecifiedMatching DOID:0080521 lung non-squamous non-small cell carcinoma oboInOwl:hasDbXref NCI:C135017 semapv:UnspecifiedMatching DOID:0080522 thyroid gland anaplastic carcinoma oboInOwl:hasDbXref NCI:C3878 semapv:UnspecifiedMatching DOID:0080523 adult-onset leukoencephalopathy with axonal spheroids and pigmented glia oboInOwl:hasDbXref GARD:10981 semapv:UnspecifiedMatching -DOID:0080523 adult-onset leukoencephalopathy with axonal spheroids and pigmented glia oboInOwl:hasDbXref OMIM:221820 semapv:UnspecifiedMatching DOID:0080523 adult-onset leukoencephalopathy with axonal spheroids and pigmented glia oboInOwl:hasDbXref ORDO:313808 semapv:UnspecifiedMatching -DOID:0080523 adult-onset leukoencephalopathy with axonal spheroids and pigmented glia skos:exactMatch OMIM:221820 semapv:UnspecifiedMatching DOID:0080524 thyroid gland adenocarcinoma oboInOwl:hasDbXref NCI:C27380 semapv:UnspecifiedMatching DOID:0080525 differentiated thyroid gland carcinoma oboInOwl:hasDbXref NCI:C7153 semapv:UnspecifiedMatching -DOID:0080526 bronchiectasis 1 oboInOwl:hasDbXref OMIM:211400 semapv:UnspecifiedMatching -DOID:0080526 bronchiectasis 1 skos:exactMatch OMIM:211400 semapv:UnspecifiedMatching -DOID:0080527 bronchiectasis 2 oboInOwl:hasDbXref OMIM:613021 semapv:UnspecifiedMatching -DOID:0080527 bronchiectasis 2 skos:exactMatch OMIM:613021 semapv:UnspecifiedMatching -DOID:0080528 bronchiectasis 3 oboInOwl:hasDbXref OMIM:613071 semapv:UnspecifiedMatching -DOID:0080528 bronchiectasis 3 skos:exactMatch OMIM:613071 semapv:UnspecifiedMatching -DOID:0080530 granular corneal dystrophy 1 oboInOwl:hasDbXref OMIM:121900 semapv:UnspecifiedMatching -DOID:0080530 granular corneal dystrophy 1 skos:exactMatch OMIM:121900 semapv:UnspecifiedMatching DOID:0080531 dedifferentiated liposarcoma oboInOwl:hasDbXref ICDO:8858/3 semapv:UnspecifiedMatching DOID:0080531 dedifferentiated liposarcoma oboInOwl:hasDbXref NCI:C3704 semapv:UnspecifiedMatching DOID:0080531 dedifferentiated liposarcoma oboInOwl:hasDbXref ORDO:99970 semapv:UnspecifiedMatching DOID:0080532 Smarca4-deficient sarcoma of thorax oboInOwl:hasDbXref ORDO:466962 semapv:UnspecifiedMatching DOID:0080533 Carney-Stratakis syndrome oboInOwl:hasDbXref GARD:10643 semapv:UnspecifiedMatching DOID:0080533 Carney-Stratakis syndrome oboInOwl:hasDbXref MESH:C564650 semapv:UnspecifiedMatching -DOID:0080533 Carney-Stratakis syndrome oboInOwl:hasDbXref OMIM:606864 semapv:UnspecifiedMatching DOID:0080533 Carney-Stratakis syndrome oboInOwl:hasDbXref ORDO:97286 semapv:UnspecifiedMatching -DOID:0080533 Carney-Stratakis syndrome skos:exactMatch OMIM:606864 semapv:UnspecifiedMatching DOID:0080534 myxofibrosarcoma oboInOwl:hasDbXref ICDO:8811/3 semapv:UnspecifiedMatching DOID:0080534 myxofibrosarcoma oboInOwl:hasDbXref NCI:C6496 semapv:UnspecifiedMatching DOID:0080534 myxofibrosarcoma oboInOwl:hasDbXref ORDO:79105 semapv:UnspecifiedMatching -DOID:0080535 hypermanganesemia with dystonia oboInOwl:hasDbXref OMIMPS:613280 semapv:UnspecifiedMatching -DOID:0080535 hypermanganesemia with dystonia skos:exactMatch OMIMPS:613280 semapv:UnspecifiedMatching -DOID:0080536 hypermanganesemia with dystonia 1 oboInOwl:hasDbXref OMIM:613280 semapv:UnspecifiedMatching -DOID:0080536 hypermanganesemia with dystonia 1 skos:exactMatch OMIM:613280 semapv:UnspecifiedMatching -DOID:0080537 hypermanganesemia with dystonia 2 oboInOwl:hasDbXref OMIM:617013 semapv:UnspecifiedMatching -DOID:0080537 hypermanganesemia with dystonia 2 skos:exactMatch OMIM:617013 semapv:UnspecifiedMatching -DOID:0080538 Sweeney-Cox syndrome oboInOwl:hasDbXref OMIM:617746 semapv:UnspecifiedMatching -DOID:0080538 Sweeney-Cox syndrome skos:exactMatch OMIM:617746 semapv:UnspecifiedMatching DOID:0080539 PEHO syndrome oboInOwl:hasDbXref GARD:4264 semapv:UnspecifiedMatching DOID:0080539 PEHO syndrome oboInOwl:hasDbXref MESH:C536317 semapv:UnspecifiedMatching -DOID:0080539 PEHO syndrome oboInOwl:hasDbXref OMIM:260565 semapv:UnspecifiedMatching DOID:0080539 PEHO syndrome oboInOwl:hasDbXref ORDO:2836 semapv:UnspecifiedMatching -DOID:0080539 PEHO syndrome skos:exactMatch OMIM:260565 semapv:UnspecifiedMatching DOID:0080540 galactosialidosis oboInOwl:hasDbXref GARD:3953 semapv:UnspecifiedMatching -DOID:0080540 galactosialidosis oboInOwl:hasDbXref OMIM:256540 semapv:UnspecifiedMatching -DOID:0080540 galactosialidosis skos:exactMatch OMIM:256540 semapv:UnspecifiedMatching DOID:0080541 hyperprolinemia oboInOwl:hasDbXref GARD:2847 semapv:UnspecifiedMatching -DOID:0080542 hyperprolinemia type 1 oboInOwl:hasDbXref OMIM:239500 semapv:UnspecifiedMatching DOID:0080542 hyperprolinemia type 1 oboInOwl:hasDbXref ORDO:419 semapv:UnspecifiedMatching -DOID:0080542 hyperprolinemia type 1 skos:exactMatch OMIM:239500 semapv:UnspecifiedMatching DOID:0080543 hyperprolinemia type 2 oboInOwl:hasDbXref MESH:C538385 semapv:UnspecifiedMatching -DOID:0080543 hyperprolinemia type 2 oboInOwl:hasDbXref OMIM:239510 semapv:UnspecifiedMatching DOID:0080543 hyperprolinemia type 2 oboInOwl:hasDbXref ORDO:79101 semapv:UnspecifiedMatching -DOID:0080543 hyperprolinemia type 2 skos:exactMatch OMIM:239510 semapv:UnspecifiedMatching DOID:0080544 hyper IgM syndrome oboInOwl:hasDbXref ICD10CM:D80.5 semapv:UnspecifiedMatching DOID:0080544 hyper IgM syndrome oboInOwl:hasDbXref MESH:D053306 semapv:UnspecifiedMatching DOID:0080544 hyper IgM syndrome oboInOwl:hasDbXref NCI:C3990 semapv:UnspecifiedMatching -DOID:0080544 hyper IgM syndrome oboInOwl:hasDbXref OMIMPS:308230 semapv:UnspecifiedMatching DOID:0080544 hyper IgM syndrome oboInOwl:hasDbXref UMLS:C0272236 semapv:UnspecifiedMatching DOID:0080544 hyper IgM syndrome skos:exactMatch ICD10CM:D80.5 semapv:UnspecifiedMatching DOID:0080544 hyper IgM syndrome skos:exactMatch MESH:D053306 semapv:UnspecifiedMatching DOID:0080544 hyper IgM syndrome skos:exactMatch NCI:C3990 semapv:UnspecifiedMatching -DOID:0080544 hyper IgM syndrome skos:exactMatch OMIM:PS308230 semapv:UnspecifiedMatching -DOID:0080544 hyper IgM syndrome skos:exactMatch OMIMPS:308230 semapv:UnspecifiedMatching DOID:0080544 hyper IgM syndrome skos:exactMatch UMLS:C0272236 semapv:UnspecifiedMatching DOID:0080545 hyper IgE syndrome oboInOwl:hasDbXref GARD:10956 semapv:UnspecifiedMatching -DOID:0080545 hyper IgE syndrome oboInOwl:hasDbXref OMIMPS:147060 semapv:UnspecifiedMatching -DOID:0080545 hyper IgE syndrome skos:exactMatch OMIMPS:147060 semapv:UnspecifiedMatching -DOID:0080548 Noonan syndrome with multiple lentigines 1 oboInOwl:hasDbXref OMIM:151100 semapv:UnspecifiedMatching -DOID:0080548 Noonan syndrome with multiple lentigines 1 skos:exactMatch OMIM:151100 semapv:UnspecifiedMatching DOID:0080549 Noonan syndrome with multiple lentigines 2 oboInOwl:hasDbXref MESH:C537117 semapv:UnspecifiedMatching -DOID:0080549 Noonan syndrome with multiple lentigines 2 oboInOwl:hasDbXref OMIM:611554 semapv:UnspecifiedMatching -DOID:0080549 Noonan syndrome with multiple lentigines 2 skos:exactMatch OMIM:611554 semapv:UnspecifiedMatching -DOID:0080550 Noonan syndrome with multiple lentigines 3 oboInOwl:hasDbXref OMIM:613707 semapv:UnspecifiedMatching -DOID:0080550 Noonan syndrome with multiple lentigines 3 skos:exactMatch OMIM:613707 semapv:UnspecifiedMatching DOID:0080551 Naxos disease oboInOwl:hasDbXref GARD:9795 semapv:UnspecifiedMatching DOID:0080551 Naxos disease oboInOwl:hasDbXref MESH:C538346 semapv:UnspecifiedMatching -DOID:0080551 Naxos disease oboInOwl:hasDbXref OMIM:601214 semapv:UnspecifiedMatching DOID:0080551 Naxos disease oboInOwl:hasDbXref ORDO:34217 semapv:UnspecifiedMatching -DOID:0080551 Naxos disease skos:exactMatch OMIM:601214 semapv:UnspecifiedMatching DOID:0080552 congenital disorder of glycosylation Ia oboInOwl:hasDbXref GARD:9826 semapv:UnspecifiedMatching -DOID:0080552 congenital disorder of glycosylation Ia oboInOwl:hasDbXref OMIM:212065 semapv:UnspecifiedMatching DOID:0080552 congenital disorder of glycosylation Ia oboInOwl:hasDbXref ORDO:79318 semapv:UnspecifiedMatching -DOID:0080552 congenital disorder of glycosylation Ia skos:exactMatch OMIM:212065 semapv:UnspecifiedMatching -DOID:0080553 congenital disorder of glycosylation Iaa oboInOwl:hasDbXref OMIM:617082 semapv:UnspecifiedMatching -DOID:0080553 congenital disorder of glycosylation Iaa skos:exactMatch OMIM:617082 semapv:UnspecifiedMatching DOID:0080554 congenital disorder of glycosylation Ib oboInOwl:hasDbXref GARD:9830 semapv:UnspecifiedMatching -DOID:0080554 congenital disorder of glycosylation Ib oboInOwl:hasDbXref OMIM:602579 semapv:UnspecifiedMatching DOID:0080554 congenital disorder of glycosylation Ib oboInOwl:hasDbXref ORDO:79319 semapv:UnspecifiedMatching -DOID:0080554 congenital disorder of glycosylation Ib skos:exactMatch OMIM:602579 semapv:UnspecifiedMatching DOID:0080555 congenital disorder of glycosylation Ic oboInOwl:hasDbXref GARD:9829 semapv:UnspecifiedMatching -DOID:0080555 congenital disorder of glycosylation Ic oboInOwl:hasDbXref OMIM:603147 semapv:UnspecifiedMatching DOID:0080555 congenital disorder of glycosylation Ic oboInOwl:hasDbXref ORDO:79320 semapv:UnspecifiedMatching -DOID:0080555 congenital disorder of glycosylation Ic skos:exactMatch OMIM:603147 semapv:UnspecifiedMatching DOID:0080556 congenital disorder of glycosylation Id oboInOwl:hasDbXref GARD:9827 semapv:UnspecifiedMatching -DOID:0080556 congenital disorder of glycosylation Id oboInOwl:hasDbXref OMIM:601110 semapv:UnspecifiedMatching DOID:0080556 congenital disorder of glycosylation Id oboInOwl:hasDbXref ORDO:79321 semapv:UnspecifiedMatching -DOID:0080556 congenital disorder of glycosylation Id skos:exactMatch OMIM:601110 semapv:UnspecifiedMatching DOID:0080557 congenital disorder of glycosylation Ie oboInOwl:hasDbXref GARD:9831 semapv:UnspecifiedMatching -DOID:0080557 congenital disorder of glycosylation Ie oboInOwl:hasDbXref OMIM:608799 semapv:UnspecifiedMatching DOID:0080557 congenital disorder of glycosylation Ie oboInOwl:hasDbXref ORDO:79322 semapv:UnspecifiedMatching -DOID:0080557 congenital disorder of glycosylation Ie skos:exactMatch OMIM:608799 semapv:UnspecifiedMatching DOID:0080558 congenital disorder of glycosylation If oboInOwl:hasDbXref GARD:9832 semapv:UnspecifiedMatching -DOID:0080558 congenital disorder of glycosylation If oboInOwl:hasDbXref OMIM:609180 semapv:UnspecifiedMatching DOID:0080558 congenital disorder of glycosylation If oboInOwl:hasDbXref ORDO:79323 semapv:UnspecifiedMatching -DOID:0080558 congenital disorder of glycosylation If skos:exactMatch OMIM:609180 semapv:UnspecifiedMatching DOID:0080559 congenital disorder of glycosylation Ig oboInOwl:hasDbXref GARD:9833 semapv:UnspecifiedMatching -DOID:0080559 congenital disorder of glycosylation Ig oboInOwl:hasDbXref OMIM:607143 semapv:UnspecifiedMatching DOID:0080559 congenital disorder of glycosylation Ig oboInOwl:hasDbXref ORDO:79324 semapv:UnspecifiedMatching -DOID:0080559 congenital disorder of glycosylation Ig skos:exactMatch OMIM:607143 semapv:UnspecifiedMatching DOID:0080560 congenital disorder of glycosylation Ih oboInOwl:hasDbXref GARD:9834 semapv:UnspecifiedMatching -DOID:0080560 congenital disorder of glycosylation Ih oboInOwl:hasDbXref OMIM:608104 semapv:UnspecifiedMatching DOID:0080560 congenital disorder of glycosylation Ih oboInOwl:hasDbXref ORDO:79325 semapv:UnspecifiedMatching -DOID:0080560 congenital disorder of glycosylation Ih skos:exactMatch OMIM:608104 semapv:UnspecifiedMatching DOID:0080561 congenital disorder of glycosylation Ii oboInOwl:hasDbXref GARD:9836 semapv:UnspecifiedMatching -DOID:0080561 congenital disorder of glycosylation Ii oboInOwl:hasDbXref OMIM:607906 semapv:UnspecifiedMatching DOID:0080561 congenital disorder of glycosylation Ii oboInOwl:hasDbXref ORDO:79326 semapv:UnspecifiedMatching -DOID:0080561 congenital disorder of glycosylation Ii skos:exactMatch OMIM:607906 semapv:UnspecifiedMatching DOID:0080562 congenital disorder of glycosylation Ij oboInOwl:hasDbXref GARD:9837 semapv:UnspecifiedMatching -DOID:0080562 congenital disorder of glycosylation Ij oboInOwl:hasDbXref OMIM:608093 semapv:UnspecifiedMatching DOID:0080562 congenital disorder of glycosylation Ij oboInOwl:hasDbXref ORDO:86309 semapv:UnspecifiedMatching -DOID:0080562 congenital disorder of glycosylation Ij skos:exactMatch OMIM:608093 semapv:UnspecifiedMatching DOID:0080563 congenital disorder of glycosylation Ik oboInOwl:hasDbXref GARD:9838 semapv:UnspecifiedMatching -DOID:0080563 congenital disorder of glycosylation Ik oboInOwl:hasDbXref OMIM:608540 semapv:UnspecifiedMatching DOID:0080563 congenital disorder of glycosylation Ik oboInOwl:hasDbXref ORDO:79327 semapv:UnspecifiedMatching -DOID:0080563 congenital disorder of glycosylation Ik skos:exactMatch OMIM:608540 semapv:UnspecifiedMatching DOID:0080564 congenital disorder of glycosylation Il oboInOwl:hasDbXref GARD:9839 semapv:UnspecifiedMatching -DOID:0080564 congenital disorder of glycosylation Il oboInOwl:hasDbXref OMIM:608776 semapv:UnspecifiedMatching DOID:0080564 congenital disorder of glycosylation Il oboInOwl:hasDbXref ORDO:79328 semapv:UnspecifiedMatching -DOID:0080564 congenital disorder of glycosylation Il skos:exactMatch OMIM:608776 semapv:UnspecifiedMatching DOID:0080565 congenital disorder of glycosylation Im oboInOwl:hasDbXref GARD:12393 semapv:UnspecifiedMatching -DOID:0080565 congenital disorder of glycosylation Im oboInOwl:hasDbXref OMIM:610768 semapv:UnspecifiedMatching DOID:0080565 congenital disorder of glycosylation Im oboInOwl:hasDbXref ORDO:91131 semapv:UnspecifiedMatching -DOID:0080565 congenital disorder of glycosylation Im skos:exactMatch OMIM:610768 semapv:UnspecifiedMatching DOID:0080566 congenital disorder of glycosylation In oboInOwl:hasDbXref GARD:12394 semapv:UnspecifiedMatching -DOID:0080566 congenital disorder of glycosylation In oboInOwl:hasDbXref OMIM:612015 semapv:UnspecifiedMatching DOID:0080566 congenital disorder of glycosylation In oboInOwl:hasDbXref ORDO:244310 semapv:UnspecifiedMatching -DOID:0080566 congenital disorder of glycosylation In skos:exactMatch OMIM:612015 semapv:UnspecifiedMatching DOID:0080567 congenital disorder of glycosylation Ip oboInOwl:hasDbXref GARD:12396 semapv:UnspecifiedMatching -DOID:0080567 congenital disorder of glycosylation Ip oboInOwl:hasDbXref OMIM:613661 semapv:UnspecifiedMatching DOID:0080567 congenital disorder of glycosylation Ip oboInOwl:hasDbXref ORDO:280071 semapv:UnspecifiedMatching -DOID:0080567 congenital disorder of glycosylation Ip skos:exactMatch OMIM:613661 semapv:UnspecifiedMatching DOID:0080568 congenital disorder of glycosylation Iq oboInOwl:hasDbXref GARD:12397 semapv:UnspecifiedMatching -DOID:0080568 congenital disorder of glycosylation Iq oboInOwl:hasDbXref OMIM:612379 semapv:UnspecifiedMatching DOID:0080568 congenital disorder of glycosylation Iq oboInOwl:hasDbXref ORDO:324737 semapv:UnspecifiedMatching -DOID:0080568 congenital disorder of glycosylation Iq skos:exactMatch OMIM:612379 semapv:UnspecifiedMatching DOID:0080569 congenital disorder of glycosylation Ir oboInOwl:hasDbXref GARD:12398 semapv:UnspecifiedMatching -DOID:0080569 congenital disorder of glycosylation Ir oboInOwl:hasDbXref OMIM:614507 semapv:UnspecifiedMatching DOID:0080569 congenital disorder of glycosylation Ir oboInOwl:hasDbXref ORDO:300536 semapv:UnspecifiedMatching -DOID:0080569 congenital disorder of glycosylation Ir skos:exactMatch OMIM:614507 semapv:UnspecifiedMatching -DOID:0080570 congenital disorder of glycosylation It oboInOwl:hasDbXref OMIM:614921 semapv:UnspecifiedMatching DOID:0080570 congenital disorder of glycosylation It oboInOwl:hasDbXref ORDO:319646 semapv:UnspecifiedMatching -DOID:0080570 congenital disorder of glycosylation It skos:exactMatch OMIM:614921 semapv:UnspecifiedMatching DOID:0080571 congenital disorder of glycosylation Iu oboInOwl:hasDbXref GARD:12416 semapv:UnspecifiedMatching -DOID:0080571 congenital disorder of glycosylation Iu oboInOwl:hasDbXref OMIM:615042 semapv:UnspecifiedMatching DOID:0080571 congenital disorder of glycosylation Iu oboInOwl:hasDbXref ORDO:329178 semapv:UnspecifiedMatching -DOID:0080571 congenital disorder of glycosylation Iu skos:exactMatch OMIM:615042 semapv:UnspecifiedMatching -DOID:0080572 congenital disorder of glycosylation Iw oboInOwl:hasDbXref OMIM:615596 semapv:UnspecifiedMatching DOID:0080572 congenital disorder of glycosylation Iw oboInOwl:hasDbXref ORDO:370921 semapv:UnspecifiedMatching -DOID:0080572 congenital disorder of glycosylation Iw skos:exactMatch OMIM:615596 semapv:UnspecifiedMatching -DOID:0080573 congenital disorder of glycosylation Ix oboInOwl:hasDbXref OMIM:615597 semapv:UnspecifiedMatching DOID:0080573 congenital disorder of glycosylation Ix oboInOwl:hasDbXref ORDO:370924 semapv:UnspecifiedMatching -DOID:0080573 congenital disorder of glycosylation Ix skos:exactMatch OMIM:615597 semapv:UnspecifiedMatching DOID:0080574 congenital disorder of glycosylation Iy oboInOwl:hasDbXref GARD:12405 semapv:UnspecifiedMatching -DOID:0080574 congenital disorder of glycosylation Iy oboInOwl:hasDbXref OMIM:300934 semapv:UnspecifiedMatching DOID:0080574 congenital disorder of glycosylation Iy oboInOwl:hasDbXref ORDO:370927 semapv:UnspecifiedMatching -DOID:0080574 congenital disorder of glycosylation Iy skos:exactMatch OMIM:300934 semapv:UnspecifiedMatching -DOID:0080575 Larsen-like syndrome B3GAT3 type oboInOwl:hasDbXref OMIM:245600 semapv:UnspecifiedMatching DOID:0080575 Larsen-like syndrome B3GAT3 type oboInOwl:hasDbXref ORDO:284139 semapv:UnspecifiedMatching -DOID:0080575 Larsen-like syndrome B3GAT3 type skos:exactMatch OMIM:245600 semapv:UnspecifiedMatching DOID:0080576 spondyloepimetaphyseal dysplasia, Genevieve-type oboInOwl:hasDbXref GARD:10057 semapv:UnspecifiedMatching DOID:0080576 spondyloepimetaphyseal dysplasia, Genevieve-type oboInOwl:hasDbXref MESH:C535785 semapv:UnspecifiedMatching -DOID:0080576 spondyloepimetaphyseal dysplasia, Genevieve-type oboInOwl:hasDbXref OMIM:610442 semapv:UnspecifiedMatching DOID:0080576 spondyloepimetaphyseal dysplasia, Genevieve-type oboInOwl:hasDbXref ORDO:168454 semapv:UnspecifiedMatching -DOID:0080576 spondyloepimetaphyseal dysplasia, Genevieve-type skos:exactMatch OMIM:610442 semapv:UnspecifiedMatching DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency oboInOwl:hasDbXref MESH:C535308 semapv:UnspecifiedMatching -DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency oboInOwl:hasDbXref OMIM:210200 semapv:UnspecifiedMatching -DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency skos:exactMatch OMIM:210200 semapv:UnspecifiedMatching DOID:0080580 3-Methylcrotonyl-CoA carboxylase 2 deficiency oboInOwl:hasDbXref MESH:C535309 semapv:UnspecifiedMatching -DOID:0080580 3-Methylcrotonyl-CoA carboxylase 2 deficiency oboInOwl:hasDbXref OMIM:210210 semapv:UnspecifiedMatching -DOID:0080580 3-Methylcrotonyl-CoA carboxylase 2 deficiency skos:exactMatch OMIM:210210 semapv:UnspecifiedMatching -DOID:0080581 hyperekplexia 4 oboInOwl:hasDbXref OMIM:618011 semapv:UnspecifiedMatching -DOID:0080581 hyperekplexia 4 skos:exactMatch OMIM:618011 semapv:UnspecifiedMatching -DOID:0080581 hyperekplexia 4 skos:exactMatch OMIM:618011 semapv:UnspecifiedMatching -DOID:0080582 hypotrichosis 14 oboInOwl:hasDbXref OMIM:618275 semapv:UnspecifiedMatching -DOID:0080582 hypotrichosis 14 skos:exactMatch OMIM:618275 semapv:UnspecifiedMatching DOID:0080583 Wolfram syndrome, mitochondrial form oboInOwl:hasDbXref MESH:C564012 semapv:UnspecifiedMatching -DOID:0080583 Wolfram syndrome, mitochondrial form oboInOwl:hasDbXref OMIM:598500 semapv:UnspecifiedMatching -DOID:0080583 Wolfram syndrome, mitochondrial form skos:exactMatch OMIM:598500 semapv:UnspecifiedMatching -DOID:0080584 autosomal dominant Wolfram syndrome oboInOwl:hasDbXref OMIM:614296 semapv:UnspecifiedMatching -DOID:0080584 autosomal dominant Wolfram syndrome skos:exactMatch OMIM:614296 semapv:UnspecifiedMatching -DOID:0080585 Van Maldergem syndrome 1 oboInOwl:hasDbXref OMIM:601390 semapv:UnspecifiedMatching -DOID:0080585 Van Maldergem syndrome 1 skos:exactMatch OMIM:601390 semapv:UnspecifiedMatching -DOID:0080586 Van Maldergem syndrome 2 oboInOwl:hasDbXref OMIM:615546 semapv:UnspecifiedMatching -DOID:0080586 Van Maldergem syndrome 2 skos:exactMatch OMIM:615546 semapv:UnspecifiedMatching -DOID:0080587 congenital myasthenic syndrome 22 oboInOwl:hasDbXref OMIM:616224 semapv:UnspecifiedMatching -DOID:0080587 congenital myasthenic syndrome 22 skos:exactMatch OMIM:616224 semapv:UnspecifiedMatching -DOID:0080588 agammaglobulinemia 5 oboInOwl:hasDbXref OMIM:613506 semapv:UnspecifiedMatching -DOID:0080588 agammaglobulinemia 5 skos:exactMatch OMIM:613506 semapv:UnspecifiedMatching -DOID:0080589 Klippel-Feil syndrome 1 oboInOwl:hasDbXref OMIM:118100 semapv:UnspecifiedMatching -DOID:0080589 Klippel-Feil syndrome 1 skos:exactMatch OMIM:118100 semapv:UnspecifiedMatching -DOID:0080590 Klippel-Feil syndrome 2 oboInOwl:hasDbXref OMIM:214300 semapv:UnspecifiedMatching -DOID:0080590 Klippel-Feil syndrome 2 skos:exactMatch OMIM:214300 semapv:UnspecifiedMatching -DOID:0080591 Klippel-Feil syndrome 3 oboInOwl:hasDbXref OMIM:613702 semapv:UnspecifiedMatching -DOID:0080591 Klippel-Feil syndrome 3 skos:exactMatch OMIM:613702 semapv:UnspecifiedMatching -DOID:0080592 Klippel-Feil syndrome 4 oboInOwl:hasDbXref OMIM:616549 semapv:UnspecifiedMatching DOID:0080592 Klippel-Feil syndrome 4 oboInOwl:hasDbXref ORDO:447974 semapv:UnspecifiedMatching -DOID:0080592 Klippel-Feil syndrome 4 skos:exactMatch OMIM:616549 semapv:UnspecifiedMatching -DOID:0080593 orofacial cleft 6 oboInOwl:hasDbXref OMIM:608864 semapv:UnspecifiedMatching -DOID:0080593 orofacial cleft 6 skos:exactMatch OMIM:608864 semapv:UnspecifiedMatching DOID:0080594 hyper IgE recurrent infection syndrome 2 oboInOwl:hasDbXref GARD:2816 semapv:UnspecifiedMatching -DOID:0080594 hyper IgE recurrent infection syndrome 2 oboInOwl:hasDbXref OMIM:243700 semapv:UnspecifiedMatching DOID:0080594 hyper IgE recurrent infection syndrome 2 oboInOwl:hasDbXref ORDO:217390 semapv:UnspecifiedMatching -DOID:0080594 hyper IgE recurrent infection syndrome 2 skos:exactMatch OMIM:243700 semapv:UnspecifiedMatching -DOID:0080595 hyper IgE recurrent infection syndrome 3 oboInOwl:hasDbXref OMIM:618282 semapv:UnspecifiedMatching -DOID:0080595 hyper IgE recurrent infection syndrome 3 skos:exactMatch OMIM:618282 semapv:UnspecifiedMatching -DOID:0080596 hyper IgE recurrent infection syndrome 4 oboInOwl:hasDbXref OMIM:618523 semapv:UnspecifiedMatching -DOID:0080596 hyper IgE recurrent infection syndrome 4 skos:exactMatch OMIM:618523 semapv:UnspecifiedMatching -DOID:0080597 Kleefstra syndrome oboInOwl:hasDbXref OMIMPS:610253 semapv:UnspecifiedMatching -DOID:0080597 Kleefstra syndrome skos:exactMatch OMIMPS:610253 semapv:UnspecifiedMatching -DOID:0080598 Kleefstra syndrome 2 oboInOwl:hasDbXref OMIM:617768 semapv:UnspecifiedMatching DOID:0080598 Kleefstra syndrome 2 oboInOwl:hasDbXref ORDO:261652 semapv:UnspecifiedMatching -DOID:0080598 Kleefstra syndrome 2 skos:exactMatch OMIM:617768 semapv:UnspecifiedMatching DOID:0080600 COVID-19 oboInOwl:hasDbXref ICD10CM:U07.1 semapv:UnspecifiedMatching DOID:0080600 COVID-19 oboInOwl:hasDbXref MESH:D000086382 semapv:UnspecifiedMatching DOID:0080600 COVID-19 oboInOwl:hasDbXref NCI:C171133 semapv:UnspecifiedMatching DOID:0080600 COVID-19 oboInOwl:hasDbXref UMLS:C5203670 semapv:UnspecifiedMatching DOID:0080602 benign teratoma oboInOwl:hasDbXref ICDO:9080/1 semapv:UnspecifiedMatching DOID:0080602 benign teratoma oboInOwl:hasDbXref NCI:C67107 semapv:UnspecifiedMatching -DOID:0080603 ankylosing spondylitis 1 oboInOwl:hasDbXref OMIM:106300 semapv:UnspecifiedMatching -DOID:0080603 ankylosing spondylitis 1 skos:exactMatch OMIM:106300 semapv:UnspecifiedMatching -DOID:0080604 ankylosing spondylitis 2 oboInOwl:hasDbXref OMIM:183840 semapv:UnspecifiedMatching -DOID:0080604 ankylosing spondylitis 2 skos:exactMatch OMIM:183840 semapv:UnspecifiedMatching -DOID:0080605 ankylosing spondylitis 3 oboInOwl:hasDbXref OMIM:613238 semapv:UnspecifiedMatching -DOID:0080605 ankylosing spondylitis 3 skos:exactMatch OMIM:613238 semapv:UnspecifiedMatching -DOID:0080606 anterior segment dysgenesis 1 oboInOwl:hasDbXref OMIM:107250 semapv:UnspecifiedMatching -DOID:0080606 anterior segment dysgenesis 1 skos:exactMatch OMIM:107250 semapv:UnspecifiedMatching -DOID:0080607 anterior segment dysgenesis 2 oboInOwl:hasDbXref OMIM:610256 semapv:UnspecifiedMatching -DOID:0080607 anterior segment dysgenesis 2 skos:exactMatch OMIM:610256 semapv:UnspecifiedMatching -DOID:0080608 anterior segment dysgenesis 3 oboInOwl:hasDbXref OMIM:601631 semapv:UnspecifiedMatching -DOID:0080608 anterior segment dysgenesis 3 skos:exactMatch OMIM:601631 semapv:UnspecifiedMatching -DOID:0080609 anterior segment dysgenesis 4 oboInOwl:hasDbXref OMIM:137600 semapv:UnspecifiedMatching -DOID:0080609 anterior segment dysgenesis 4 skos:exactMatch OMIM:137600 semapv:UnspecifiedMatching -DOID:0080610 anterior segment dysgenesis 5 oboInOwl:hasDbXref OMIM:604229 semapv:UnspecifiedMatching -DOID:0080610 anterior segment dysgenesis 5 skos:exactMatch OMIM:604229 semapv:UnspecifiedMatching -DOID:0080611 anterior segment dysgenesis 6 oboInOwl:hasDbXref OMIM:617315 semapv:UnspecifiedMatching -DOID:0080611 anterior segment dysgenesis 6 skos:exactMatch OMIM:617315 semapv:UnspecifiedMatching -DOID:0080612 anterior segment dysgenesis 7 oboInOwl:hasDbXref OMIM:269400 semapv:UnspecifiedMatching -DOID:0080612 anterior segment dysgenesis 7 skos:exactMatch OMIM:269400 semapv:UnspecifiedMatching -DOID:0080613 anterior segment dysgenesis 8 oboInOwl:hasDbXref OMIM:617319 semapv:UnspecifiedMatching -DOID:0080613 anterior segment dysgenesis 8 skos:exactMatch OMIM:617319 semapv:UnspecifiedMatching -DOID:0080614 oculocutaneous albinism type VI oboInOwl:hasDbXref OMIM:113750 semapv:UnspecifiedMatching -DOID:0080614 oculocutaneous albinism type VI skos:exactMatch OMIM:113750 semapv:UnspecifiedMatching DOID:0080617 lymph node benign neoplasm oboInOwl:hasDbXref NCI:C3636 semapv:UnspecifiedMatching DOID:0080619 auditory system benign neoplasm oboInOwl:hasDbXref NCI:C8417 semapv:UnspecifiedMatching -DOID:0080620 familial glucocorticoid deficiency oboInOwl:hasDbXref OMIMPS:202200 semapv:UnspecifiedMatching -DOID:0080620 familial glucocorticoid deficiency skos:exactMatch OMIMPS:202200 semapv:UnspecifiedMatching -DOID:0080621 glucocorticoid deficiency 1 oboInOwl:hasDbXref OMIM:202200 semapv:UnspecifiedMatching -DOID:0080621 glucocorticoid deficiency 1 skos:exactMatch OMIM:202200 semapv:UnspecifiedMatching -DOID:0080622 peroxisome biogenesis disorder 2B oboInOwl:hasDbXref OMIM:202370 semapv:UnspecifiedMatching -DOID:0080622 peroxisome biogenesis disorder 2B skos:exactMatch OMIM:202370 semapv:UnspecifiedMatching -DOID:0080623 Heimler syndrome 1 oboInOwl:hasDbXref OMIM:234580 semapv:UnspecifiedMatching -DOID:0080623 Heimler syndrome 1 skos:exactMatch OMIM:234580 semapv:UnspecifiedMatching -DOID:0080624 Heimler syndrome 2 oboInOwl:hasDbXref OMIM:616617 semapv:UnspecifiedMatching -DOID:0080624 Heimler syndrome 2 skos:exactMatch OMIM:616617 semapv:UnspecifiedMatching -DOID:0080625 severe congenital neutropenia 1 oboInOwl:hasDbXref OMIM:202700 semapv:UnspecifiedMatching -DOID:0080625 severe congenital neutropenia 1 skos:exactMatch OMIM:202700 semapv:UnspecifiedMatching -DOID:0080626 corticosterone methyloxidase deficiency 1 oboInOwl:hasDbXref OMIM:203400 semapv:UnspecifiedMatching DOID:0080626 corticosterone methyloxidase deficiency 1 oboInOwl:hasDbXref ORDO:427 semapv:UnspecifiedMatching -DOID:0080626 corticosterone methyloxidase deficiency 1 skos:exactMatch OMIM:203400 semapv:UnspecifiedMatching DOID:0080627 alopecia-mental retardation syndrome oboInOwl:hasDbXref GARD:612 semapv:UnspecifiedMatching -DOID:0080627 alopecia-mental retardation syndrome oboInOwl:hasDbXref OMIMPS:203650 semapv:UnspecifiedMatching DOID:0080627 alopecia-mental retardation syndrome oboInOwl:hasDbXref ORDO:2850 semapv:UnspecifiedMatching -DOID:0080627 alopecia-mental retardation syndrome skos:exactMatch OMIMPS:203650 semapv:UnspecifiedMatching -DOID:0080628 alopecia-mental retardation syndrome 1 oboInOwl:hasDbXref OMIM:203650 semapv:UnspecifiedMatching -DOID:0080628 alopecia-mental retardation syndrome 1 skos:exactMatch OMIM:203650 semapv:UnspecifiedMatching DOID:0080629 alopecia-mental retardation syndrome 2 oboInOwl:hasDbXref MESH:C563668 semapv:UnspecifiedMatching -DOID:0080629 alopecia-mental retardation syndrome 2 oboInOwl:hasDbXref OMIM:610422 semapv:UnspecifiedMatching -DOID:0080629 alopecia-mental retardation syndrome 2 skos:exactMatch OMIM:610422 semapv:UnspecifiedMatching DOID:0080630 B-lymphoblastic leukemia/lymphoma oboInOwl:hasDbXref ICDO:9836/3 semapv:UnspecifiedMatching DOID:0080630 B-lymphoblastic leukemia/lymphoma oboInOwl:hasDbXref NCI:C8936 semapv:UnspecifiedMatching DOID:0080630 B-lymphoblastic leukemia/lymphoma oboInOwl:hasDbXref UMLS:C0862030 semapv:UnspecifiedMatching DOID:0080631 Elsahy-Waters syndrome oboInOwl:hasDbXref GARD:955 semapv:UnspecifiedMatching -DOID:0080631 Elsahy-Waters syndrome oboInOwl:hasDbXref OMIM:211380 semapv:UnspecifiedMatching DOID:0080631 Elsahy-Waters syndrome oboInOwl:hasDbXref ORDO:1299 semapv:UnspecifiedMatching -DOID:0080631 Elsahy-Waters syndrome skos:exactMatch OMIM:211380 semapv:UnspecifiedMatching -DOID:0080632 Fazio-Londe disease oboInOwl:hasDbXref OMIM:211500 semapv:UnspecifiedMatching -DOID:0080632 Fazio-Londe disease skos:exactMatch OMIM:211500 semapv:UnspecifiedMatching -DOID:0080633 developmental cardiac valvular defect oboInOwl:hasDbXref OMIM:212093 semapv:UnspecifiedMatching -DOID:0080633 developmental cardiac valvular defect skos:exactMatch OMIM:212093 semapv:UnspecifiedMatching -DOID:0080634 nanophthalmos oboInOwl:hasDbXref OMIM:600165 semapv:UnspecifiedMatching -DOID:0080634 nanophthalmos oboInOwl:hasDbXref OMIM:609549 semapv:UnspecifiedMatching -DOID:0080634 nanophthalmos oboInOwl:hasDbXref OMIM:611897 semapv:UnspecifiedMatching -DOID:0080634 nanophthalmos oboInOwl:hasDbXref OMIM:615972 semapv:UnspecifiedMatching -DOID:0080634 nanophthalmos oboInOwl:hasDbXref OMIMPS:600165 semapv:UnspecifiedMatching DOID:0080634 nanophthalmos oboInOwl:hasDbXref ORDO:35612 semapv:UnspecifiedMatching -DOID:0080635 optic disc anomalies with retinal and/or macular dystrophy oboInOwl:hasDbXref OMIM:212550 semapv:UnspecifiedMatching -DOID:0080635 optic disc anomalies with retinal and/or macular dystrophy skos:exactMatch OMIM:212550 semapv:UnspecifiedMatching -DOID:0080636 syndromic microphthalmia oboInOwl:hasDbXref OMIMPS:309800 semapv:UnspecifiedMatching -DOID:0080636 syndromic microphthalmia skos:exactMatch OMIMPS:309800 semapv:UnspecifiedMatching DOID:0080638 B-cell acute lymphoblastic leukemia oboInOwl:hasDbXref NCI:C8644 semapv:UnspecifiedMatching DOID:0080640 gallbladder benign neoplasm oboInOwl:hasDbXref NCI:C4440 semapv:UnspecifiedMatching DOID:0080643 B-lymphoblastic leukemia/lymphoma with BCR-ABL1 oboInOwl:hasDbXref ICDO:9812/3 semapv:UnspecifiedMatching @@ -7851,115 +3906,47 @@ DOID:0080649 B-lymphoblastic leukemia/lymphoma with TCF3-PBX1 oboInOwl:hasDbXref DOID:0080649 B-lymphoblastic leukemia/lymphoma with TCF3-PBX1 oboInOwl:hasDbXref NCI:C80347 semapv:UnspecifiedMatching DOID:0080650 B-lymphoblastic leukemia/lymphoma, BCR-ABL1–like oboInOwl:hasDbXref ICDO:9819/3 semapv:UnspecifiedMatching DOID:0080651 B-lymphoblastic leukemia/lymphoma with iAMP21 oboInOwl:hasDbXref NCI:C130039 semapv:UnspecifiedMatching -DOID:0080652 calcium oxalate nephrolithiasis oboInOwl:hasDbXref OMIM:167030 semapv:UnspecifiedMatching -DOID:0080652 calcium oxalate nephrolithiasis skos:exactMatch OMIM:167030 semapv:UnspecifiedMatching DOID:0080653 urolithiasis oboInOwl:hasDbXref MESH:D052878 semapv:UnspecifiedMatching DOID:0080654 uric acid urolithiasis oboInOwl:hasDbXref NCI:C123245 semapv:UnspecifiedMatching -DOID:0080654 uric acid urolithiasis oboInOwl:hasDbXref OMIM:191700 semapv:UnspecifiedMatching -DOID:0080654 uric acid urolithiasis skos:exactMatch OMIM:191700 semapv:UnspecifiedMatching DOID:0080655 hypophosphatemic nephrolithiasis/osteoporosis oboInOwl:hasDbXref KEGG:H00888 semapv:UnspecifiedMatching -DOID:0080655 hypophosphatemic nephrolithiasis/osteoporosis oboInOwl:hasDbXref OMIMPS:612286 semapv:UnspecifiedMatching -DOID:0080655 hypophosphatemic nephrolithiasis/osteoporosis skos:exactMatch OMIMPS:612286 semapv:UnspecifiedMatching DOID:0080656 45,X/46,XY mixed gonadal dysgenesis oboInOwl:hasDbXref NCI:C120199 semapv:UnspecifiedMatching DOID:0080656 45,X/46,XY mixed gonadal dysgenesis oboInOwl:hasDbXref ORDO:1772 semapv:UnspecifiedMatching -DOID:0080661 nonsyndromic aplasia cutis congenita oboInOwl:hasDbXref OMIM:107600 semapv:UnspecifiedMatching -DOID:0080661 nonsyndromic aplasia cutis congenita skos:exactMatch OMIM:107600 semapv:UnspecifiedMatching -DOID:0080662 atrial standstill 1 oboInOwl:hasDbXref OMIM:108770 semapv:UnspecifiedMatching DOID:0080662 atrial standstill 1 oboInOwl:hasDbXref ORDO:1344 semapv:UnspecifiedMatching -DOID:0080662 atrial standstill 1 skos:exactMatch OMIM:108770 semapv:UnspecifiedMatching -DOID:0080663 atrial standstill 2 oboInOwl:hasDbXref OMIM:615745 semapv:UnspecifiedMatching -DOID:0080663 atrial standstill 2 skos:exactMatch OMIM:615745 semapv:UnspecifiedMatching DOID:0080664 diaphyseal medullary stenosis with malignant fibrous histiocytoma oboInOwl:hasDbXref GARD:10072 semapv:UnspecifiedMatching DOID:0080664 diaphyseal medullary stenosis with malignant fibrous histiocytoma oboInOwl:hasDbXref MESH:C536169 semapv:UnspecifiedMatching DOID:0080664 diaphyseal medullary stenosis with malignant fibrous histiocytoma oboInOwl:hasDbXref NCI:C122660 semapv:UnspecifiedMatching -DOID:0080664 diaphyseal medullary stenosis with malignant fibrous histiocytoma oboInOwl:hasDbXref OMIM:112250 semapv:UnspecifiedMatching DOID:0080664 diaphyseal medullary stenosis with malignant fibrous histiocytoma oboInOwl:hasDbXref ORDO:85182 semapv:UnspecifiedMatching -DOID:0080664 diaphyseal medullary stenosis with malignant fibrous histiocytoma skos:exactMatch OMIM:112250 semapv:UnspecifiedMatching DOID:0080665 warfarin resistance oboInOwl:hasDbXref GARD:12721 semapv:UnspecifiedMatching -DOID:0080665 warfarin resistance oboInOwl:hasDbXref OMIM:122700 semapv:UnspecifiedMatching -DOID:0080665 warfarin resistance skos:exactMatch OMIM:122700 semapv:UnspecifiedMatching DOID:0080666 warfarin sensitivity oboInOwl:hasDbXref MESH:C567080 semapv:UnspecifiedMatching -DOID:0080669 posterior polymorphous corneal dystrophy 4 oboInOwl:hasDbXref OMIM:618031 semapv:UnspecifiedMatching -DOID:0080669 posterior polymorphous corneal dystrophy 4 skos:exactMatch OMIM:618031 semapv:UnspecifiedMatching -DOID:0080670 Meesmann corneal dystrophy 1 oboInOwl:hasDbXref OMIM:122100 semapv:UnspecifiedMatching -DOID:0080670 Meesmann corneal dystrophy 1 skos:exactMatch OMIM:122100 semapv:UnspecifiedMatching -DOID:0080671 Meesmann corneal dystrophy 2 oboInOwl:hasDbXref OMIM:618767 semapv:UnspecifiedMatching -DOID:0080671 Meesmann corneal dystrophy 2 skos:exactMatch OMIM:618767 semapv:UnspecifiedMatching -DOID:0080672 fibrochondrogenesis 1 oboInOwl:hasDbXref OMIM:228520 semapv:UnspecifiedMatching -DOID:0080672 fibrochondrogenesis 1 skos:exactMatch OMIM:228520 semapv:UnspecifiedMatching -DOID:0080673 fibrochondrogenesis 2 oboInOwl:hasDbXref OMIM:614524 semapv:UnspecifiedMatching -DOID:0080673 fibrochondrogenesis 2 skos:exactMatch OMIM:614524 semapv:UnspecifiedMatching DOID:0080674 luminal breast carcinoma B oboInOwl:hasDbXref NCI:C53555 semapv:UnspecifiedMatching DOID:0080674 luminal breast carcinoma B oboInOwl:hasDbXref UMLS:C3642346 semapv:UnspecifiedMatching -DOID:0080675 Stickler syndrome 2 oboInOwl:hasDbXref OMIM:604841 semapv:UnspecifiedMatching -DOID:0080675 Stickler syndrome 2 skos:exactMatch OMIM:604841 semapv:UnspecifiedMatching -DOID:0080676 Stickler syndrome 1 oboInOwl:hasDbXref OMIM:108300 semapv:UnspecifiedMatching DOID:0080676 Stickler syndrome 1 oboInOwl:hasDbXref ORDO:90653 semapv:UnspecifiedMatching -DOID:0080676 Stickler syndrome 1 skos:exactMatch OMIM:108300 semapv:UnspecifiedMatching -DOID:0080677 otospondylomegaepiphyseal dysplasia, autosomal dominant oboInOwl:hasDbXref OMIM:184840 semapv:UnspecifiedMatching -DOID:0080677 otospondylomegaepiphyseal dysplasia, autosomal dominant skos:exactMatch OMIM:184840 semapv:UnspecifiedMatching DOID:0080678 mucolipidosis III gamma oboInOwl:hasDbXref MESH:C565367 semapv:UnspecifiedMatching -DOID:0080678 mucolipidosis III gamma oboInOwl:hasDbXref OMIM:252605 semapv:UnspecifiedMatching DOID:0080678 mucolipidosis III gamma oboInOwl:hasDbXref ORDO:423470 semapv:UnspecifiedMatching -DOID:0080678 mucolipidosis III gamma skos:exactMatch OMIM:252605 semapv:UnspecifiedMatching -DOID:0080679 neuronal intestinal dysplasia type A oboInOwl:hasDbXref OMIM:243180 semapv:UnspecifiedMatching -DOID:0080679 neuronal intestinal dysplasia type A skos:exactMatch OMIM:243180 semapv:UnspecifiedMatching -DOID:0080680 neuronal intestinal dysplasia type B oboInOwl:hasDbXref OMIM:601223 semapv:UnspecifiedMatching -DOID:0080680 neuronal intestinal dysplasia type B skos:exactMatch OMIM:601223 semapv:UnspecifiedMatching DOID:0080681 X-linked chronic idiopathic intestinal pseudo-obstruction oboInOwl:hasDbXref GARD:3017 semapv:UnspecifiedMatching -DOID:0080681 X-linked chronic idiopathic intestinal pseudo-obstruction oboInOwl:hasDbXref OMIM:300048 semapv:UnspecifiedMatching -DOID:0080681 X-linked chronic idiopathic intestinal pseudo-obstruction skos:exactMatch OMIM:300048 semapv:UnspecifiedMatching -DOID:0080682 autosomal dominant familial visceral neuropathy oboInOwl:hasDbXref OMIM:609629 semapv:UnspecifiedMatching -DOID:0080682 autosomal dominant familial visceral neuropathy skos:exactMatch OMIM:609629 semapv:UnspecifiedMatching -DOID:0080683 nonsyndromic congenital nail disorder oboInOwl:hasDbXref OMIMPS:161050 semapv:UnspecifiedMatching -DOID:0080683 nonsyndromic congenital nail disorder skos:exactMatch OMIMPS:161050 semapv:UnspecifiedMatching DOID:0080684 diffuse midline glioma, H3 K27M-mutant oboInOwl:hasDbXref ICDO:9385/3 semapv:UnspecifiedMatching DOID:0080684 diffuse midline glioma, H3 K27M-mutant oboInOwl:hasDbXref NCI:C129309 semapv:UnspecifiedMatching -DOID:0080686 tubular aggregate myopathy 2 oboInOwl:hasDbXref OMIM:615883 semapv:UnspecifiedMatching -DOID:0080686 tubular aggregate myopathy 2 skos:exactMatch OMIM:615883 semapv:UnspecifiedMatching DOID:0080686 tubular aggregate myopathy 2 skos:narrowMatch ORDO:2593 semapv:UnspecifiedMatching -DOID:0080687 reducing body myopathy 1B oboInOwl:hasDbXref OMIM:300718 semapv:UnspecifiedMatching -DOID:0080687 reducing body myopathy 1B skos:exactMatch OMIM:300718 semapv:UnspecifiedMatching DOID:0080688 mosaic variegated aneuploidy syndrome oboInOwl:hasDbXref GARD:3007 semapv:UnspecifiedMatching DOID:0080688 mosaic variegated aneuploidy syndrome oboInOwl:hasDbXref MESH:C536987 semapv:UnspecifiedMatching -DOID:0080688 mosaic variegated aneuploidy syndrome oboInOwl:hasDbXref OMIMPS:257300 semapv:UnspecifiedMatching DOID:0080688 mosaic variegated aneuploidy syndrome oboInOwl:hasDbXref ORDO:1052 semapv:UnspecifiedMatching -DOID:0080688 mosaic variegated aneuploidy syndrome skos:exactMatch OMIMPS:257300 semapv:UnspecifiedMatching -DOID:0080689 mosaic variegated aneuploidy syndrome 3 oboInOwl:hasDbXref OMIM:617598 semapv:UnspecifiedMatching -DOID:0080689 mosaic variegated aneuploidy syndrome 3 skos:exactMatch OMIM:617598 semapv:UnspecifiedMatching DOID:0080691 Noonan syndrome-like disorder with loose anagen hair oboInOwl:hasDbXref GARD:10719 semapv:UnspecifiedMatching DOID:0080691 Noonan syndrome-like disorder with loose anagen hair oboInOwl:hasDbXref ORDO:2701 semapv:UnspecifiedMatching -DOID:0080692 Noonan syndrome-like disorder with loose anagen hair 1 oboInOwl:hasDbXref OMIM:607721 semapv:UnspecifiedMatching -DOID:0080692 Noonan syndrome-like disorder with loose anagen hair 1 skos:exactMatch OMIM:607721 semapv:UnspecifiedMatching -DOID:0080693 Noonan syndrome-like disorder with loose anagen hair 2 oboInOwl:hasDbXref OMIM:617506 semapv:UnspecifiedMatching -DOID:0080693 Noonan syndrome-like disorder with loose anagen hair 2 skos:exactMatch OMIM:617506 semapv:UnspecifiedMatching DOID:0080694 Galloway-Mowat syndrome oboInOwl:hasDbXref GARD:65 semapv:UnspecifiedMatching DOID:0080694 Galloway-Mowat syndrome oboInOwl:hasDbXref MESH:C537548 semapv:UnspecifiedMatching DOID:0080694 Galloway-Mowat syndrome oboInOwl:hasDbXref NCI:C132195 semapv:UnspecifiedMatching -DOID:0080694 Galloway-Mowat syndrome oboInOwl:hasDbXref OMIMPS:251300 semapv:UnspecifiedMatching DOID:0080694 Galloway-Mowat syndrome oboInOwl:hasDbXref ORDO:2065 semapv:UnspecifiedMatching DOID:0080694 Galloway-Mowat syndrome oboInOwl:hasDbXref UMLS:C0795949 semapv:UnspecifiedMatching -DOID:0080694 Galloway-Mowat syndrome skos:exactMatch OMIMPS:251300 semapv:UnspecifiedMatching DOID:0080695 Burn-McKeown syndrome oboInOwl:hasDbXref GARD:10041 semapv:UnspecifiedMatching DOID:0080695 Burn-McKeown syndrome oboInOwl:hasDbXref MESH:C537411 semapv:UnspecifiedMatching -DOID:0080695 Burn-McKeown syndrome oboInOwl:hasDbXref OMIM:608572 semapv:UnspecifiedMatching DOID:0080695 Burn-McKeown syndrome oboInOwl:hasDbXref ORDO:1200 semapv:UnspecifiedMatching -DOID:0080695 Burn-McKeown syndrome skos:exactMatch OMIM:608572 semapv:UnspecifiedMatching DOID:0080696 Winchester syndrome oboInOwl:hasDbXref GARD:7894 semapv:UnspecifiedMatching DOID:0080696 Winchester syndrome oboInOwl:hasDbXref MESH:C536709 semapv:UnspecifiedMatching -DOID:0080696 Winchester syndrome oboInOwl:hasDbXref OMIM:277950 semapv:UnspecifiedMatching -DOID:0080696 Winchester syndrome skos:exactMatch OMIM:277950 semapv:UnspecifiedMatching DOID:0080697 Opitz GBBB syndrome oboInOwl:hasDbXref GARD:193 semapv:UnspecifiedMatching DOID:0080697 Opitz GBBB syndrome oboInOwl:hasDbXref KEGG:H00583 semapv:UnspecifiedMatching -DOID:0080697 Opitz GBBB syndrome oboInOwl:hasDbXref OMIM:300000 semapv:UnspecifiedMatching -DOID:0080697 Opitz GBBB syndrome skos:exactMatch OMIM:300000 semapv:UnspecifiedMatching -DOID:0080698 Teebi hypertelorism syndrome 1 oboInOwl:hasDbXref OMIM:145420 semapv:UnspecifiedMatching DOID:0080698 Teebi hypertelorism syndrome 1 oboInOwl:hasDbXref ORDO:1519 semapv:UnspecifiedMatching -DOID:0080698 Teebi hypertelorism syndrome 1 skos:exactMatch OMIM:145420 semapv:UnspecifiedMatching DOID:0080699 glutathione synthetase deficiency oboInOwl:hasDbXref GARD:10047 semapv:UnspecifiedMatching DOID:0080699 glutathione synthetase deficiency oboInOwl:hasDbXref MESH:C536835 semapv:UnspecifiedMatching -DOID:0080701 prothrombin thrombophilia oboInOwl:hasDbXref OMIM:188050 semapv:UnspecifiedMatching -DOID:0080701 prothrombin thrombophilia skos:exactMatch OMIM:188050 semapv:UnspecifiedMatching DOID:0080702 medulloblastoma WNT activated oboInOwl:hasDbXref ICDO:9475/3 semapv:UnspecifiedMatching DOID:0080702 medulloblastoma WNT activated oboInOwl:hasDbXref NCI:C129440 semapv:UnspecifiedMatching DOID:0080703 medulloblastoma SHH activated oboInOwl:hasDbXref NCI:C129441 semapv:UnspecifiedMatching @@ -7972,81 +3959,30 @@ DOID:0080706 medulloblastoma non-WNT/non-SHH oboInOwl:hasDbXref NCI:C129444 sema DOID:0080707 medulloblastoma non-WNT/non-SHH group 3 oboInOwl:hasDbXref NCI:C129445 semapv:UnspecifiedMatching DOID:0080708 medulloblastoma non-WNT/non-SHH group 4 oboInOwl:hasDbXref NCI:C129446 semapv:UnspecifiedMatching DOID:0080714 hereditary alpha tryptasemia syndrome oboInOwl:hasDbXref GARD:13193 semapv:UnspecifiedMatching -DOID:0080715 developmental and epileptic encephalopathy 82 oboInOwl:hasDbXref OMIM:618721 semapv:UnspecifiedMatching -DOID:0080715 developmental and epileptic encephalopathy 82 skos:exactMatch OMIM:618721 semapv:UnspecifiedMatching -DOID:0080716 infantile liver failure syndrome oboInOwl:hasDbXref OMIMPS:615438 semapv:UnspecifiedMatching DOID:0080716 infantile liver failure syndrome oboInOwl:hasDbXref ORDO:370088 semapv:UnspecifiedMatching -DOID:0080716 infantile liver failure syndrome skos:exactMatch OMIMPS:615438 semapv:UnspecifiedMatching DOID:0080717 infantile liver failure syndrome 1 oboInOwl:hasDbXref GARD:13114 semapv:UnspecifiedMatching -DOID:0080717 infantile liver failure syndrome 1 oboInOwl:hasDbXref OMIM:615438 semapv:UnspecifiedMatching -DOID:0080717 infantile liver failure syndrome 1 skos:exactMatch OMIM:615438 semapv:UnspecifiedMatching DOID:0080718 GNE myopathy oboInOwl:hasDbXref GARD:9493 semapv:UnspecifiedMatching DOID:0080718 GNE myopathy oboInOwl:hasDbXref MESH:C536816 semapv:UnspecifiedMatching DOID:0080718 GNE myopathy oboInOwl:hasDbXref MESH:C538329 semapv:UnspecifiedMatching DOID:0080718 GNE myopathy oboInOwl:hasDbXref NCI:C176900 semapv:UnspecifiedMatching -DOID:0080718 GNE myopathy oboInOwl:hasDbXref OMIM:605820 semapv:UnspecifiedMatching DOID:0080718 GNE myopathy oboInOwl:hasDbXref ORDO:602 semapv:UnspecifiedMatching DOID:0080718 GNE myopathy oboInOwl:hasDbXref UMLS:C1833373 semapv:UnspecifiedMatching DOID:0080718 GNE myopathy oboInOwl:hasDbXref UMLS:C1853926 semapv:UnspecifiedMatching DOID:0080718 GNE myopathy skos:exactMatch MESH:C536816 semapv:UnspecifiedMatching -DOID:0080718 GNE myopathy skos:exactMatch OMIM:605820 semapv:UnspecifiedMatching DOID:0080719 congenital myopathy 6 oboInOwl:hasDbXref GARD:9494 semapv:UnspecifiedMatching -DOID:0080719 congenital myopathy 6 oboInOwl:hasDbXref OMIM:605637 semapv:UnspecifiedMatching DOID:0080719 congenital myopathy 6 oboInOwl:hasDbXref ORDO:79091 semapv:UnspecifiedMatching -DOID:0080719 congenital myopathy 6 skos:exactMatch OMIM:605637 semapv:UnspecifiedMatching DOID:0080720 autosomal dominant congenital deafness with onychodystrophy oboInOwl:hasDbXref GARD:4732 semapv:UnspecifiedMatching -DOID:0080720 autosomal dominant congenital deafness with onychodystrophy oboInOwl:hasDbXref OMIM:124480 semapv:UnspecifiedMatching -DOID:0080720 autosomal dominant congenital deafness with onychodystrophy skos:exactMatch OMIM:124480 semapv:UnspecifiedMatching -DOID:0080721 calvarial doughnut lesions with bone fragility oboInOwl:hasDbXref OMIM:126550 semapv:UnspecifiedMatching DOID:0080721 calvarial doughnut lesions with bone fragility oboInOwl:hasDbXref ORDO:85192 semapv:UnspecifiedMatching -DOID:0080721 calvarial doughnut lesions with bone fragility skos:exactMatch OMIM:126550 semapv:UnspecifiedMatching DOID:0080722 Kenny-Caffey syndrome type 1 oboInOwl:hasDbXref GARD:8367 semapv:UnspecifiedMatching -DOID:0080722 Kenny-Caffey syndrome type 1 oboInOwl:hasDbXref OMIM:244460 semapv:UnspecifiedMatching DOID:0080722 Kenny-Caffey syndrome type 1 oboInOwl:hasDbXref ORDO:93324 semapv:UnspecifiedMatching -DOID:0080722 Kenny-Caffey syndrome type 1 skos:exactMatch OMIM:244460 semapv:UnspecifiedMatching DOID:0080723 Kenny-Caffey syndrome type 2 oboInOwl:hasDbXref GARD:83 semapv:UnspecifiedMatching -DOID:0080723 Kenny-Caffey syndrome type 2 oboInOwl:hasDbXref OMIM:127000 semapv:UnspecifiedMatching DOID:0080723 Kenny-Caffey syndrome type 2 oboInOwl:hasDbXref ORDO:93325 semapv:UnspecifiedMatching DOID:0080723 Kenny-Caffey syndrome type 2 skos:exactMatch MESH:C537020 semapv:UnspecifiedMatching -DOID:0080723 Kenny-Caffey syndrome type 2 skos:exactMatch OMIM:127000 semapv:UnspecifiedMatching -DOID:0080724 Kenny-Caffey syndrome oboInOwl:hasDbXref OMIMPS:127000 semapv:UnspecifiedMatching DOID:0080724 Kenny-Caffey syndrome oboInOwl:hasDbXref ORDO:2333 semapv:UnspecifiedMatching -DOID:0080724 Kenny-Caffey syndrome skos:exactMatch OMIMPS:127000 semapv:UnspecifiedMatching DOID:0080725 BASAN syndrome oboInOwl:hasDbXref GARD:2336 semapv:UnspecifiedMatching DOID:0080725 BASAN syndrome oboInOwl:hasDbXref KEGG:H02296 semapv:UnspecifiedMatching DOID:0080725 BASAN syndrome oboInOwl:hasDbXref MESH:C537659 semapv:UnspecifiedMatching -DOID:0080725 BASAN syndrome oboInOwl:hasDbXref OMIM:129200 semapv:UnspecifiedMatching DOID:0080725 BASAN syndrome oboInOwl:hasDbXref ORDO:1658 semapv:UnspecifiedMatching -DOID:0080725 BASAN syndrome skos:exactMatch OMIM:129200 semapv:UnspecifiedMatching -DOID:0080726 Ehlers-Danlos syndrome classic type 2 oboInOwl:hasDbXref OMIM:130010 semapv:UnspecifiedMatching -DOID:0080726 Ehlers-Danlos syndrome classic type 2 skos:exactMatch OMIM:130010 semapv:UnspecifiedMatching -DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 oboInOwl:hasDbXref OMIM:130060 semapv:UnspecifiedMatching -DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 skos:exactMatch OMIM:130060 semapv:UnspecifiedMatching -DOID:0080728 Ehlers-Danlos syndrome arthrochalasia type 2 oboInOwl:hasDbXref OMIM:617821 semapv:UnspecifiedMatching -DOID:0080728 Ehlers-Danlos syndrome arthrochalasia type 2 skos:exactMatch OMIM:617821 semapv:UnspecifiedMatching -DOID:0080729 brittle cornea syndrome 2 oboInOwl:hasDbXref OMIM:614170 semapv:UnspecifiedMatching -DOID:0080729 brittle cornea syndrome 2 skos:exactMatch OMIM:614170 semapv:UnspecifiedMatching -DOID:0080730 Ehlers-Danlos syndrome cardiac valvular type oboInOwl:hasDbXref OMIM:225320 semapv:UnspecifiedMatching -DOID:0080730 Ehlers-Danlos syndrome cardiac valvular type skos:exactMatch OMIM:225320 semapv:UnspecifiedMatching -DOID:0080731 Ehlers-Danlos syndrome classic-like 1 oboInOwl:hasDbXref OMIM:606408 semapv:UnspecifiedMatching -DOID:0080731 Ehlers-Danlos syndrome classic-like 1 skos:exactMatch OMIM:606408 semapv:UnspecifiedMatching -DOID:0080732 Ehlers-Danlos syndrome classic-like 2 oboInOwl:hasDbXref OMIM:618000 semapv:UnspecifiedMatching -DOID:0080732 Ehlers-Danlos syndrome classic-like 2 skos:exactMatch OMIM:618000 semapv:UnspecifiedMatching -DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type oboInOwl:hasDbXref OMIM:225410 semapv:UnspecifiedMatching -DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type skos:exactMatch OMIM:225410 semapv:UnspecifiedMatching -DOID:0080734 Ehlers-Danlos syndrome kyphoscoliotic type 1 oboInOwl:hasDbXref OMIM:225400 semapv:UnspecifiedMatching -DOID:0080734 Ehlers-Danlos syndrome kyphoscoliotic type 1 skos:exactMatch OMIM:225400 semapv:UnspecifiedMatching -DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 oboInOwl:hasDbXref OMIM:614557 semapv:UnspecifiedMatching -DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 skos:exactMatch OMIM:614557 semapv:UnspecifiedMatching -DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 skos:exactMatch OMIM:614557 semapv:UnspecifiedMatching -DOID:0080736 Ehlers-Danlos syndrome musculocontractural type 1 oboInOwl:hasDbXref OMIM:601776 semapv:UnspecifiedMatching -DOID:0080736 Ehlers-Danlos syndrome musculocontractural type 1 skos:exactMatch OMIM:601776 semapv:UnspecifiedMatching -DOID:0080737 Ehlers-Danlos syndrome musculocontractural type 2 oboInOwl:hasDbXref OMIM:615539 semapv:UnspecifiedMatching -DOID:0080737 Ehlers-Danlos syndrome musculocontractural type 2 skos:exactMatch OMIM:615539 semapv:UnspecifiedMatching -DOID:0080738 Ehlers-Danlos syndrome spondylodysplastic type 1 oboInOwl:hasDbXref OMIM:130070 semapv:UnspecifiedMatching -DOID:0080738 Ehlers-Danlos syndrome spondylodysplastic type 1 skos:exactMatch OMIM:130070 semapv:UnspecifiedMatching -DOID:0080739 Ehlers-Danlos syndrome spondylodysplastic type 3 oboInOwl:hasDbXref OMIM:612350 semapv:UnspecifiedMatching -DOID:0080739 Ehlers-Danlos syndrome spondylodysplastic type 3 skos:exactMatch OMIM:612350 semapv:UnspecifiedMatching DOID:0080740 Libman-Sacks endocarditis oboInOwl:hasDbXref ICD10CM:M32.11 semapv:UnspecifiedMatching DOID:0080741 limbic encephalitis oboInOwl:hasDbXref GARD:8742 semapv:UnspecifiedMatching DOID:0080741 limbic encephalitis oboInOwl:hasDbXref MESH:D020363 semapv:UnspecifiedMatching @@ -8059,39 +3995,13 @@ DOID:0080745 polymyositis oboInOwl:hasDbXref MESH:D017285 semapv:UnspecifiedMatc DOID:0080746 Sweet syndrome oboInOwl:hasDbXref MESH:D016463 semapv:UnspecifiedMatching DOID:0080747 chronic urticaria oboInOwl:hasDbXref MESH:D000080223 semapv:UnspecifiedMatching DOID:0080750 erythema nodosum oboInOwl:hasDbXref MESH:D004893 semapv:UnspecifiedMatching -DOID:0080751 keratosis pilaris atrophicans oboInOwl:hasDbXref OMIM:604093 semapv:UnspecifiedMatching -DOID:0080751 keratosis pilaris atrophicans skos:exactMatch OMIM:604093 semapv:UnspecifiedMatching DOID:0080753 keratosis follicularis spinulosa decalvans oboInOwl:hasDbXref ORDO:2340 semapv:UnspecifiedMatching DOID:0080754 X-linked keratosis follicularis spinulosa decalvans oboInOwl:hasDbXref GARD:6829 semapv:UnspecifiedMatching -DOID:0080754 X-linked keratosis follicularis spinulosa decalvans oboInOwl:hasDbXref OMIM:308800 semapv:UnspecifiedMatching -DOID:0080754 X-linked keratosis follicularis spinulosa decalvans skos:exactMatch OMIM:308800 semapv:UnspecifiedMatching -DOID:0080755 autosomal dominant keratosis follicularis spinulosa decalvans oboInOwl:hasDbXref OMIM:612843 semapv:UnspecifiedMatching -DOID:0080755 autosomal dominant keratosis follicularis spinulosa decalvans skos:exactMatch OMIM:612843 semapv:UnspecifiedMatching DOID:0080756 atrophoderma vermiculata oboInOwl:hasDbXref GARD:9744 semapv:UnspecifiedMatching -DOID:0080756 atrophoderma vermiculata oboInOwl:hasDbXref OMIM:209700 semapv:UnspecifiedMatching DOID:0080756 atrophoderma vermiculata oboInOwl:hasDbXref ORDO:79100 semapv:UnspecifiedMatching -DOID:0080756 atrophoderma vermiculata skos:exactMatch OMIM:209700 semapv:UnspecifiedMatching -DOID:0080757 Fanconi renotubular syndrome 1 oboInOwl:hasDbXref OMIM:134600 semapv:UnspecifiedMatching -DOID:0080757 Fanconi renotubular syndrome 1 skos:exactMatch OMIM:134600 semapv:UnspecifiedMatching -DOID:0080758 Fanconi renotubular syndrome 2 oboInOwl:hasDbXref OMIM:613388 semapv:UnspecifiedMatching -DOID:0080758 Fanconi renotubular syndrome 2 skos:exactMatch OMIM:613388 semapv:UnspecifiedMatching -DOID:0080759 Fanconi renotubular syndrome 3 oboInOwl:hasDbXref OMIM:615605 semapv:UnspecifiedMatching -DOID:0080759 Fanconi renotubular syndrome 3 skos:exactMatch OMIM:615605 semapv:UnspecifiedMatching -DOID:0080760 Fanconi renotubular syndrome 4 oboInOwl:hasDbXref OMIM:616026 semapv:UnspecifiedMatching -DOID:0080760 Fanconi renotubular syndrome 4 skos:exactMatch OMIM:616026 semapv:UnspecifiedMatching -DOID:0080761 Fanconi renotubular syndrome 5 oboInOwl:hasDbXref OMIM:618913 semapv:UnspecifiedMatching -DOID:0080761 Fanconi renotubular syndrome 5 skos:exactMatch OMIM:618913 semapv:UnspecifiedMatching -DOID:0080762 autosomal recessive limb-girdle muscular dystrophy type 2Z oboInOwl:hasDbXref OMIM:617232 semapv:UnspecifiedMatching DOID:0080762 autosomal recessive limb-girdle muscular dystrophy type 2Z oboInOwl:hasDbXref ORDO:480682 semapv:UnspecifiedMatching -DOID:0080762 autosomal recessive limb-girdle muscular dystrophy type 2Z skos:exactMatch OMIM:617232 semapv:UnspecifiedMatching DOID:0080763 diffuse gastric cancer oboInOwl:hasDbXref GARD:10334 semapv:UnspecifiedMatching DOID:0080764 hereditary diffuse gastric cancer oboInOwl:hasDbXref GARD:10900 semapv:UnspecifiedMatching -DOID:0080764 hereditary diffuse gastric cancer oboInOwl:hasDbXref OMIM:137215 semapv:UnspecifiedMatching -DOID:0080764 hereditary diffuse gastric cancer skos:exactMatch OMIM:137215 semapv:UnspecifiedMatching -DOID:0080765 autosomal recessive intellectual developmental disorder 72 oboInOwl:hasDbXref OMIM:618665 semapv:UnspecifiedMatching -DOID:0080765 autosomal recessive intellectual developmental disorder 72 skos:exactMatch OMIM:618665 semapv:UnspecifiedMatching -DOID:0080766 erythrokeratodermia variabilis et progressiva 6 oboInOwl:hasDbXref OMIM:618531 semapv:UnspecifiedMatching -DOID:0080766 erythrokeratodermia variabilis et progressiva 6 skos:exactMatch OMIM:618531 semapv:UnspecifiedMatching DOID:0080767 autoimmune myocarditis oboInOwl:hasDbXref GARD:9519 semapv:UnspecifiedMatching DOID:0080768 pyridoxine-dependent epilepsy oboInOwl:hasDbXref GARD:9298 semapv:UnspecifiedMatching DOID:0080768 pyridoxine-dependent epilepsy oboInOwl:hasDbXref MESH:C536254 semapv:UnspecifiedMatching @@ -8102,34 +4012,21 @@ DOID:0080768 pyridoxine-dependent epilepsy skos:exactMatch GARD:9298 semapv:Unsp DOID:0080768 pyridoxine-dependent epilepsy skos:exactMatch MESH:C536254 semapv:UnspecifiedMatching DOID:0080768 pyridoxine-dependent epilepsy skos:exactMatch ORDO:3006 semapv:UnspecifiedMatching DOID:0080768 pyridoxine-dependent epilepsy skos:exactMatch SNOMEDCT_US_2020_03_01:734434007 semapv:UnspecifiedMatching -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: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 -DOID:0080771 beta-thalassemia major skos:exactMatch OMIM:187550 semapv:UnspecifiedMatching DOID:0080772 beta-thalassemia intermedia oboInOwl:hasDbXref ORDO:231222 semapv:UnspecifiedMatching DOID:0080773 delta beta-thalassemia oboInOwl:hasDbXref NCI:C172823 semapv:UnspecifiedMatching DOID:0080773 delta beta-thalassemia oboInOwl:hasDbXref ORDO:231237 semapv:UnspecifiedMatching -DOID:0080774 thalassemia minor oboInOwl:hasDbXref OMIM:187550 semapv:UnspecifiedMatching -DOID:0080774 thalassemia minor skos:exactMatch OMIM:187550 semapv:UnspecifiedMatching DOID:0080775 complete androgen insensitivity syndrome oboInOwl:hasDbXref ICD10CM:E34.51 semapv:UnspecifiedMatching DOID:0080775 complete androgen insensitivity syndrome oboInOwl:hasDbXref MESH:D013734 semapv:UnspecifiedMatching DOID:0080775 complete androgen insensitivity syndrome oboInOwl:hasDbXref NCI:C120191 semapv:UnspecifiedMatching DOID:0080775 complete androgen insensitivity syndrome oboInOwl:hasDbXref ORDO:99429 semapv:UnspecifiedMatching DOID:0080775 complete androgen insensitivity syndrome oboInOwl:hasDbXref UMLS:C0936016 semapv:UnspecifiedMatching DOID:0080776 partial androgen insensitivity syndrome oboInOwl:hasDbXref GARD:5692 semapv:UnspecifiedMatching -DOID:0080776 partial androgen insensitivity syndrome oboInOwl:hasDbXref OMIM:312300 semapv:UnspecifiedMatching DOID:0080776 partial androgen insensitivity syndrome oboInOwl:hasDbXref ORDO:90797 semapv:UnspecifiedMatching -DOID:0080776 partial androgen insensitivity syndrome skos:exactMatch OMIM:312300 semapv:UnspecifiedMatching DOID:0080777 lung sarcomatoid carcinoma oboInOwl:hasDbXref NCI:C45540 semapv:UnspecifiedMatching DOID:0080778 transient infantile liver failure oboInOwl:hasDbXref GARD:10593 semapv:UnspecifiedMatching -DOID:0080778 transient infantile liver failure oboInOwl:hasDbXref OMIM:613070 semapv:UnspecifiedMatching DOID:0080778 transient infantile liver failure oboInOwl:hasDbXref ORDO:217371 semapv:UnspecifiedMatching -DOID:0080778 transient infantile liver failure skos:exactMatch OMIM:613070 semapv:UnspecifiedMatching DOID:0080779 plasmablastic lymphoma oboInOwl:hasDbXref ICDO:9735/3 semapv:UnspecifiedMatching DOID:0080779 plasmablastic lymphoma oboInOwl:hasDbXref MESH:D000069293 semapv:UnspecifiedMatching DOID:0080779 plasmablastic lymphoma oboInOwl:hasDbXref NCI:C7224 semapv:UnspecifiedMatching @@ -8139,22 +4036,6 @@ DOID:0080781 benign exocrine pancreas neoplasm oboInOwl:hasDbXref NCI:C4613 sema DOID:0080784 urinary tract infection oboInOwl:hasDbXref ICD10CM:N39.0 semapv:UnspecifiedMatching DOID:0080784 urinary tract infection oboInOwl:hasDbXref MESH:D014552 semapv:UnspecifiedMatching DOID:0080784 urinary tract infection skos:exactMatch MESH:D014552 semapv:UnspecifiedMatching -DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 oboInOwl:hasDbXref OMIM:211530 semapv:UnspecifiedMatching -DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 skos:exactMatch OMIM:211530 semapv:UnspecifiedMatching -DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 oboInOwl:hasDbXref OMIM:614707 semapv:UnspecifiedMatching -DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 skos:exactMatch OMIM:614707 semapv:UnspecifiedMatching -DOID:0080787 proximal symphalangism 1 oboInOwl:hasDbXref OMIM:185800 semapv:UnspecifiedMatching -DOID:0080787 proximal symphalangism 1 skos:exactMatch OMIM:185800 semapv:UnspecifiedMatching -DOID:0080788 proximal symphalangism 2 oboInOwl:hasDbXref OMIM:615298 semapv:UnspecifiedMatching -DOID:0080788 proximal symphalangism 2 skos:exactMatch OMIM:615298 semapv:UnspecifiedMatching -DOID:0080789 Treacher Collins syndrome 1 oboInOwl:hasDbXref OMIM:154500 semapv:UnspecifiedMatching -DOID:0080789 Treacher Collins syndrome 1 skos:exactMatch OMIM:154500 semapv:UnspecifiedMatching -DOID:0080790 Treacher Collins syndrome 2 oboInOwl:hasDbXref OMIM:613717 semapv:UnspecifiedMatching -DOID:0080790 Treacher Collins syndrome 2 skos:exactMatch OMIM:613717 semapv:UnspecifiedMatching -DOID:0080791 Treacher Collins syndrome 3 oboInOwl:hasDbXref OMIM:248390 semapv:UnspecifiedMatching -DOID:0080791 Treacher Collins syndrome 3 skos:exactMatch OMIM:248390 semapv:UnspecifiedMatching -DOID:0080792 Treacher Collins syndrome 4 oboInOwl:hasDbXref OMIM:618939 semapv:UnspecifiedMatching -DOID:0080792 Treacher Collins syndrome 4 skos:exactMatch OMIM:618939 semapv:UnspecifiedMatching DOID:0080794 childhood acute megakaryoblastic leukemia oboInOwl:hasDbXref NCI:C7972 semapv:UnspecifiedMatching DOID:0080795 acute basophilic leukemia oboInOwl:hasDbXref ICDO:9870/3 semapv:UnspecifiedMatching DOID:0080795 acute basophilic leukemia oboInOwl:hasDbXref NCI:C3164 semapv:UnspecifiedMatching @@ -8166,63 +4047,31 @@ DOID:0080798 myeloid leukemia associated with Down Syndrome oboInOwl:hasDbXref N DOID:0080799 sinonasal undifferentiated carcinoma oboInOwl:hasDbXref MESH:C537344 semapv:UnspecifiedMatching DOID:0080799 sinonasal undifferentiated carcinoma oboInOwl:hasDbXref NCI:C54294 semapv:UnspecifiedMatching DOID:0080800 salivary gland mucinous adenocarcinoma oboInOwl:hasDbXref NCI:C62193 semapv:UnspecifiedMatching -DOID:0080801 autosomal dominant craniometaphyseal dysplasia oboInOwl:hasDbXref OMIM:123000 semapv:UnspecifiedMatching -DOID:0080801 autosomal dominant craniometaphyseal dysplasia skos:exactMatch OMIM:123000 semapv:UnspecifiedMatching -DOID:0080802 autosomal recessive craniometaphyseal dysplasia oboInOwl:hasDbXref OMIM:218400 semapv:UnspecifiedMatching -DOID:0080802 autosomal recessive craniometaphyseal dysplasia skos:exactMatch OMIM:218400 semapv:UnspecifiedMatching -DOID:0080803 cranioectodermal dysplasia 1 oboInOwl:hasDbXref OMIM:218330 semapv:UnspecifiedMatching -DOID:0080803 cranioectodermal dysplasia 1 skos:exactMatch OMIM:218330 semapv:UnspecifiedMatching -DOID:0080804 cranioectodermal dysplasia 2 oboInOwl:hasDbXref OMIM:613610 semapv:UnspecifiedMatching -DOID:0080804 cranioectodermal dysplasia 2 skos:exactMatch OMIM:613610 semapv:UnspecifiedMatching -DOID:0080805 cranioectodermal dysplasia 3 oboInOwl:hasDbXref OMIM:614099 semapv:UnspecifiedMatching -DOID:0080805 cranioectodermal dysplasia 3 skos:exactMatch OMIM:614099 semapv:UnspecifiedMatching -DOID:0080806 cranioectodermal dysplasia 4 oboInOwl:hasDbXref OMIM:614378 semapv:UnspecifiedMatching -DOID:0080806 cranioectodermal dysplasia 4 skos:exactMatch OMIM:614378 semapv:UnspecifiedMatching -DOID:0080807 autosomal dominant craniodiaphyseal dysplasia oboInOwl:hasDbXref OMIM:122860 semapv:UnspecifiedMatching -DOID:0080807 autosomal dominant craniodiaphyseal dysplasia skos:exactMatch OMIM:122860 semapv:UnspecifiedMatching DOID:0080808 mammary analogue secretory carcinoma oboInOwl:hasDbXref MESH:D000069295 semapv:UnspecifiedMatching -DOID:0080828 VEXAS syndrome oboInOwl:hasDbXref OMIM:301054 semapv:UnspecifiedMatching DOID:0080828 VEXAS syndrome oboInOwl:hasDbXref ORDO:596753 semapv:UnspecifiedMatching -DOID:0080828 VEXAS syndrome skos:exactMatch OMIM:301054 semapv:UnspecifiedMatching DOID:0080829 low grade glioma oboInOwl:hasDbXref NCI:C132067 semapv:UnspecifiedMatching DOID:0080833 laryngomalacia oboInOwl:hasDbXref GARD:6865 semapv:UnspecifiedMatching DOID:0080833 laryngomalacia oboInOwl:hasDbXref ICD10CM:Q31.5 semapv:UnspecifiedMatching -DOID:0080833 laryngomalacia oboInOwl:hasDbXref OMIM:150280 semapv:UnspecifiedMatching DOID:0080833 laryngomalacia oboInOwl:hasDbXref ORDO:2373 semapv:UnspecifiedMatching DOID:0080833 laryngomalacia oboInOwl:hasDbXref UMLS:C0345160 semapv:UnspecifiedMatching -DOID:0080833 laryngomalacia skos:exactMatch OMIM:150280 semapv:UnspecifiedMatching DOID:0080833 laryngomalacia skos:narrowMatch MESH:D055092 semapv:UnspecifiedMatching DOID:0080835 TORCH syndrome oboInOwl:hasDbXref GARD:7781 semapv:UnspecifiedMatching DOID:0080836 growth hormone insensitivity syndrome with immune dysregulation 1 oboInOwl:hasDbXref GARD:3924 semapv:UnspecifiedMatching -DOID:0080836 growth hormone insensitivity syndrome with immune dysregulation 1 oboInOwl:hasDbXref OMIM:245590 semapv:UnspecifiedMatching DOID:0080836 growth hormone insensitivity syndrome with immune dysregulation 1 oboInOwl:hasDbXref ORDO:220465 semapv:UnspecifiedMatching -DOID:0080836 growth hormone insensitivity syndrome with immune dysregulation 1 skos:exactMatch OMIM:245590 semapv:UnspecifiedMatching -DOID:0080837 growth hormone insensitivity syndrome with immune dysregulation 2 oboInOwl:hasDbXref OMIM:618985 semapv:UnspecifiedMatching -DOID:0080837 growth hormone insensitivity syndrome with immune dysregulation 2 skos:exactMatch OMIM:618985 semapv:UnspecifiedMatching -DOID:0080839 X-linked warfarin sensitivity oboInOwl:hasDbXref OMIM:301052 semapv:UnspecifiedMatching -DOID:0080839 X-linked warfarin sensitivity skos:exactMatch OMIM:301052 semapv:UnspecifiedMatching -DOID:0080840 optic atrophy 12 oboInOwl:hasDbXref OMIM:618977 semapv:UnspecifiedMatching -DOID:0080840 optic atrophy 12 skos:exactMatch OMIM:618977 semapv:UnspecifiedMatching DOID:0080842 intracranial meningioma oboInOwl:hasDbXref MESH:D008579 semapv:UnspecifiedMatching DOID:0080842 intracranial meningioma oboInOwl:hasDbXref NCI:C4656 semapv:UnspecifiedMatching DOID:0080842 intracranial meningioma oboInOwl:hasDbXref UMLS:C0349604 semapv:UnspecifiedMatching DOID:0080843 supratentorial meningioma oboInOwl:hasDbXref NCI:C6971 semapv:UnspecifiedMatching DOID:0080843 supratentorial meningioma oboInOwl:hasDbXref UMLS:C1334698 semapv:UnspecifiedMatching DOID:0080844 omodysplasia 1 oboInOwl:hasDbXref MESH:C537746 semapv:UnspecifiedMatching -DOID:0080844 omodysplasia 1 oboInOwl:hasDbXref OMIM:258315 semapv:UnspecifiedMatching DOID:0080844 omodysplasia 1 oboInOwl:hasDbXref ORDO:93329 semapv:UnspecifiedMatching DOID:0080844 omodysplasia 1 oboInOwl:hasDbXref UMLS:C1850318 semapv:UnspecifiedMatching -DOID:0080844 omodysplasia 1 skos:exactMatch OMIM:258315 semapv:UnspecifiedMatching DOID:0080845 omodysplasia 2 oboInOwl:hasDbXref MESH:C567664 semapv:UnspecifiedMatching -DOID:0080845 omodysplasia 2 oboInOwl:hasDbXref OMIM:164745 semapv:UnspecifiedMatching DOID:0080845 omodysplasia 2 oboInOwl:hasDbXref UMLS:C2750355 semapv:UnspecifiedMatching -DOID:0080845 omodysplasia 2 skos:exactMatch OMIM:164745 semapv:UnspecifiedMatching DOID:0080846 latent autoimmune diabetes in adults oboInOwl:hasDbXref MESH:D000071698 semapv:UnspecifiedMatching DOID:0080846 latent autoimmune diabetes in adults skos:exactMatch MESH:D000071698 semapv:UnspecifiedMatching DOID:0080849 ocular motor apraxia, Cogan type oboInOwl:hasDbXref GARD:16 semapv:UnspecifiedMatching -DOID:0080849 ocular motor apraxia, Cogan type oboInOwl:hasDbXref OMIM:257550 semapv:UnspecifiedMatching DOID:0080849 ocular motor apraxia, Cogan type oboInOwl:hasDbXref ORDO:1404 semapv:UnspecifiedMatching -DOID:0080849 ocular motor apraxia, Cogan type skos:exactMatch OMIM:257550 semapv:UnspecifiedMatching DOID:0080850 pemphigus foliaceus oboInOwl:hasDbXref GARD:7354 semapv:UnspecifiedMatching DOID:0080850 pemphigus foliaceus oboInOwl:hasDbXref ICD10CM:L10.2 semapv:UnspecifiedMatching DOID:0080850 pemphigus foliaceus oboInOwl:hasDbXref MESH:D010392 semapv:UnspecifiedMatching @@ -8233,43 +4082,6 @@ DOID:0080852 paraneoplastic pemphigus oboInOwl:hasDbXref ICD10CM:L10.81 semapv:U DOID:0080852 paraneoplastic pemphigus oboInOwl:hasDbXref UMLS:C1112570 semapv:UnspecifiedMatching DOID:0080854 anaplastic pleomorphic xanthoastrocytoma oboInOwl:hasDbXref NCI:C129327 semapv:UnspecifiedMatching DOID:0080857 primary ovarian insufficiency 1 oboInOwl:hasDbXref GARD:4480 semapv:UnspecifiedMatching -DOID:0080857 primary ovarian insufficiency 1 oboInOwl:hasDbXref OMIM:311360 semapv:UnspecifiedMatching -DOID:0080857 primary ovarian insufficiency 1 skos:exactMatch OMIM:311360 semapv:UnspecifiedMatching -DOID:0080858 primary ovarian insufficiency 2A oboInOwl:hasDbXref OMIM:300511 semapv:UnspecifiedMatching -DOID:0080858 primary ovarian insufficiency 2A skos:exactMatch OMIM:300511 semapv:UnspecifiedMatching -DOID:0080859 primary ovarian insufficiency 2B oboInOwl:hasDbXref OMIM:300604 semapv:UnspecifiedMatching -DOID:0080859 primary ovarian insufficiency 2B skos:exactMatch OMIM:300604 semapv:UnspecifiedMatching -DOID:0080860 primary ovarian insufficiency 3 oboInOwl:hasDbXref OMIM:608996 semapv:UnspecifiedMatching -DOID:0080860 primary ovarian insufficiency 3 skos:exactMatch OMIM:608996 semapv:UnspecifiedMatching -DOID:0080861 primary ovarian insufficiency 4 oboInOwl:hasDbXref OMIM:300510 semapv:UnspecifiedMatching -DOID:0080861 primary ovarian insufficiency 4 skos:exactMatch OMIM:300510 semapv:UnspecifiedMatching -DOID:0080862 primary ovarian insufficiency 5 oboInOwl:hasDbXref OMIM:611548 semapv:UnspecifiedMatching -DOID:0080862 primary ovarian insufficiency 5 skos:exactMatch OMIM:611548 semapv:UnspecifiedMatching -DOID:0080863 primary ovarian insufficiency 6 oboInOwl:hasDbXref OMIM:612310 semapv:UnspecifiedMatching -DOID:0080863 primary ovarian insufficiency 6 skos:exactMatch OMIM:612310 semapv:UnspecifiedMatching -DOID:0080864 primary ovarian insufficiency 7 oboInOwl:hasDbXref OMIM:612964 semapv:UnspecifiedMatching -DOID:0080864 primary ovarian insufficiency 7 skos:exactMatch OMIM:612964 semapv:UnspecifiedMatching -DOID:0080865 primary ovarian insufficiency 8 oboInOwl:hasDbXref OMIM:615723 semapv:UnspecifiedMatching -DOID:0080865 primary ovarian insufficiency 8 skos:exactMatch OMIM:615723 semapv:UnspecifiedMatching -DOID:0080866 primary ovarian insufficiency 9 oboInOwl:hasDbXref OMIM:615724 semapv:UnspecifiedMatching -DOID:0080866 primary ovarian insufficiency 9 skos:exactMatch OMIM:615724 semapv:UnspecifiedMatching -DOID:0080867 primary ovarian insufficiency 10 oboInOwl:hasDbXref OMIM:612885 semapv:UnspecifiedMatching -DOID:0080867 primary ovarian insufficiency 10 skos:exactMatch OMIM:612885 semapv:UnspecifiedMatching -DOID:0080868 primary ovarian insufficiency 11 oboInOwl:hasDbXref OMIM:616946 semapv:UnspecifiedMatching -DOID:0080868 primary ovarian insufficiency 11 skos:exactMatch OMIM:616946 semapv:UnspecifiedMatching -DOID:0080869 primary ovarian insufficiency 12 oboInOwl:hasDbXref OMIM:616947 semapv:UnspecifiedMatching -DOID:0080869 primary ovarian insufficiency 12 skos:exactMatch OMIM:616947 semapv:UnspecifiedMatching -DOID:0080869 primary ovarian insufficiency 12 skos:exactMatch OMIM:616947 semapv:UnspecifiedMatching -DOID:0080870 primary ovarian insufficiency 13 oboInOwl:hasDbXref OMIM:617442 semapv:UnspecifiedMatching -DOID:0080870 primary ovarian insufficiency 13 skos:exactMatch OMIM:617442 semapv:UnspecifiedMatching -DOID:0080871 primary ovarian insufficiency 14 oboInOwl:hasDbXref OMIM:618014 semapv:UnspecifiedMatching -DOID:0080871 primary ovarian insufficiency 14 skos:exactMatch OMIM:618014 semapv:UnspecifiedMatching -DOID:0080872 primary ovarian insufficiency 15 oboInOwl:hasDbXref OMIM:618096 semapv:UnspecifiedMatching -DOID:0080872 primary ovarian insufficiency 15 skos:exactMatch OMIM:618096 semapv:UnspecifiedMatching -DOID:0080873 primary ovarian insufficiency 16 oboInOwl:hasDbXref OMIM:618723 semapv:UnspecifiedMatching -DOID:0080873 primary ovarian insufficiency 16 skos:exactMatch OMIM:618723 semapv:UnspecifiedMatching -DOID:0080874 primary ovarian insufficiency 17 oboInOwl:hasDbXref OMIM:619146 semapv:UnspecifiedMatching -DOID:0080874 primary ovarian insufficiency 17 skos:exactMatch OMIM:619146 semapv:UnspecifiedMatching DOID:0080875 IDH-mutant anaplastic astrocytoma oboInOwl:hasDbXref NCI:C185167 semapv:UnspecifiedMatching DOID:0080876 IDH-wildtype anaplastic astrocytoma oboInOwl:hasDbXref ICDO:9401/3 semapv:UnspecifiedMatching DOID:0080876 IDH-wildtype anaplastic astrocytoma oboInOwl:hasDbXref NCI:C129291 semapv:UnspecifiedMatching @@ -8283,18 +4095,10 @@ DOID:0080882 IDH-mutant and 1p/19q-codeleted oligodendroglioma oboInOwl:hasDbXre DOID:0080883 vitamin D-dependent rickets oboInOwl:hasDbXref ICD10CM:E55.0 semapv:UnspecifiedMatching DOID:0080883 vitamin D-dependent rickets oboInOwl:hasDbXref ICD9CM:268.0 semapv:UnspecifiedMatching DOID:0080883 vitamin D-dependent rickets oboInOwl:hasDbXref UMLS:C0221468 semapv:UnspecifiedMatching -DOID:0080884 vitamin D-dependent rickets type 2A oboInOwl:hasDbXref OMIM:277440 semapv:UnspecifiedMatching DOID:0080884 vitamin D-dependent rickets type 2A oboInOwl:hasDbXref ORDO:93160 semapv:UnspecifiedMatching -DOID:0080884 vitamin D-dependent rickets type 2A skos:exactMatch OMIM:277440 semapv:UnspecifiedMatching -DOID:0080885 vitamin D-dependent rickets type 2B oboInOwl:hasDbXref OMIM:600785 semapv:UnspecifiedMatching DOID:0080885 vitamin D-dependent rickets type 2B oboInOwl:hasDbXref ORDO:93160 semapv:UnspecifiedMatching -DOID:0080885 vitamin D-dependent rickets type 2B skos:exactMatch OMIM:600785 semapv:UnspecifiedMatching -DOID:0080886 vitamin D-dependent rickets type 1A oboInOwl:hasDbXref OMIM:264700 semapv:UnspecifiedMatching DOID:0080886 vitamin D-dependent rickets type 1A oboInOwl:hasDbXref ORDO:289157 semapv:UnspecifiedMatching -DOID:0080886 vitamin D-dependent rickets type 1A skos:exactMatch OMIM:264700 semapv:UnspecifiedMatching -DOID:0080887 vitamin D-dependent rickets type 1B oboInOwl:hasDbXref OMIM:600081 semapv:UnspecifiedMatching DOID:0080887 vitamin D-dependent rickets type 1B oboInOwl:hasDbXref ORDO:289157 semapv:UnspecifiedMatching -DOID:0080887 vitamin D-dependent rickets type 1B skos:exactMatch OMIM:600081 semapv:UnspecifiedMatching DOID:0080888 spinal ependymoma, MYCN-amplified oboInOwl:hasDbXref ICDO:9396/3 semapv:UnspecifiedMatching DOID:0080888 spinal ependymoma, MYCN-amplified oboInOwl:hasDbXref NCI:C186494 semapv:UnspecifiedMatching DOID:0080889 posterior fossa ependymoma oboInOwl:hasDbXref ICDO:9391/3 semapv:UnspecifiedMatching @@ -8303,16 +4107,12 @@ DOID:0080892 RELA fusion-positive ependymoma oboInOwl:hasDbXref ICDO:9396/3 sema DOID:0080892 RELA fusion-positive ependymoma oboInOwl:hasDbXref NCI:C129351 semapv:UnspecifiedMatching DOID:0080892 RELA fusion-positive ependymoma oboInOwl:hasDbXref ORDO:530792 semapv:UnspecifiedMatching DOID:0080893 Bainbridge-Ropers syndrome oboInOwl:hasDbXref GARD:13259 semapv:UnspecifiedMatching -DOID:0080893 Bainbridge-Ropers syndrome oboInOwl:hasDbXref OMIM:615485 semapv:UnspecifiedMatching DOID:0080893 Bainbridge-Ropers syndrome oboInOwl:hasDbXref ORDO:352577 semapv:UnspecifiedMatching -DOID:0080893 Bainbridge-Ropers syndrome skos:exactMatch OMIM:615485 semapv:UnspecifiedMatching DOID:0080895 rapidly involuting congenital hemangioma oboInOwl:hasDbXref NCI:C172207 semapv:UnspecifiedMatching DOID:0080895 rapidly involuting congenital hemangioma oboInOwl:hasDbXref ORDO:141184 semapv:UnspecifiedMatching DOID:0080897 solitary fibrous tumor/hemangiopericytoma oboInOwl:hasDbXref ICDO:8815/1 semapv:UnspecifiedMatching DOID:0080897 solitary fibrous tumor/hemangiopericytoma oboInOwl:hasDbXref ORDO:2126 semapv:UnspecifiedMatching -DOID:0080898 cerebellofaciodental syndrome oboInOwl:hasDbXref OMIM:616202 semapv:UnspecifiedMatching DOID:0080898 cerebellofaciodental syndrome oboInOwl:hasDbXref ORDO:444072 semapv:UnspecifiedMatching -DOID:0080898 cerebellofaciodental syndrome skos:exactMatch OMIM:616202 semapv:UnspecifiedMatching DOID:0080899 lung pleomorphic carcinoma oboInOwl:hasDbXref NCI:C45542 semapv:UnspecifiedMatching DOID:0080903 embryonal tumor with multilayered rosettes, C19MC-altered oboInOwl:hasDbXref MESH:D018242 semapv:UnspecifiedMatching DOID:0080903 embryonal tumor with multilayered rosettes, C19MC-altered oboInOwl:hasDbXref NCI:C4915 semapv:UnspecifiedMatching @@ -8321,36 +4121,22 @@ DOID:0080904 astroblastoma, MN1-altered oboInOwl:hasDbXref ICDO:9430/3 semapv:Un DOID:0080905 central nervous system neuroblastoma oboInOwl:hasDbXref NCI:C4826 semapv:UnspecifiedMatching DOID:0080906 CNS neuroblastoma with FOXR2 activation oboInOwl:hasDbXref ICDO:9500/3 semapv:UnspecifiedMatching DOID:0080907 Cockayne syndrome A oboInOwl:hasDbXref GARD:1415 semapv:UnspecifiedMatching -DOID:0080907 Cockayne syndrome A oboInOwl:hasDbXref OMIM:216400 semapv:UnspecifiedMatching DOID:0080907 Cockayne syndrome A oboInOwl:hasDbXref ORDO:90321 semapv:UnspecifiedMatching -DOID:0080907 Cockayne syndrome A skos:exactMatch OMIM:216400 semapv:UnspecifiedMatching DOID:0080908 Cockayne syndrome B oboInOwl:hasDbXref GARD:1420 semapv:UnspecifiedMatching -DOID:0080908 Cockayne syndrome B oboInOwl:hasDbXref OMIM:133540 semapv:UnspecifiedMatching DOID:0080908 Cockayne syndrome B oboInOwl:hasDbXref ORDO:90322 semapv:UnspecifiedMatching -DOID:0080908 Cockayne syndrome B skos:exactMatch OMIM:133540 semapv:UnspecifiedMatching DOID:0080909 castration-resistant prostate carcinoma oboInOwl:hasDbXref MESH:D064129 semapv:UnspecifiedMatching DOID:0080909 castration-resistant prostate carcinoma oboInOwl:hasDbXref NCI:C130234 semapv:UnspecifiedMatching DOID:0080909 castration-resistant prostate carcinoma skos:broadMatch MESH:D064129 semapv:UnspecifiedMatching DOID:0080910 cerebrooculofacioskeletal syndrome oboInOwl:hasDbXref GARD:6027 semapv:UnspecifiedMatching -DOID:0080910 cerebrooculofacioskeletal syndrome oboInOwl:hasDbXref OMIMPS:214150 semapv:UnspecifiedMatching -DOID:0080910 cerebrooculofacioskeletal syndrome skos:exactMatch OMIMPS:214150 semapv:UnspecifiedMatching -DOID:0080911 cerebrooculofacioskeletal syndrome 1 oboInOwl:hasDbXref OMIM:214150 semapv:UnspecifiedMatching -DOID:0080911 cerebrooculofacioskeletal syndrome 1 skos:exactMatch OMIM:214150 semapv:UnspecifiedMatching DOID:0080912 cerebrooculofacioskeletal syndrome 2 oboInOwl:hasDbXref MESH:C565185 semapv:UnspecifiedMatching -DOID:0080912 cerebrooculofacioskeletal syndrome 2 oboInOwl:hasDbXref OMIM:610756 semapv:UnspecifiedMatching -DOID:0080912 cerebrooculofacioskeletal syndrome 2 skos:exactMatch OMIM:610756 semapv:UnspecifiedMatching DOID:0080913 cerebrooculofacioskeletal syndrome 3 oboInOwl:hasDbXref MESH:C565035 semapv:UnspecifiedMatching -DOID:0080913 cerebrooculofacioskeletal syndrome 3 oboInOwl:hasDbXref OMIM:616570 semapv:UnspecifiedMatching -DOID:0080913 cerebrooculofacioskeletal syndrome 3 skos:exactMatch OMIM:616570 semapv:UnspecifiedMatching DOID:0080914 cerebrooculofacioskeletal syndrome 4 oboInOwl:hasDbXref MESH:C565184 semapv:UnspecifiedMatching -DOID:0080914 cerebrooculofacioskeletal syndrome 4 oboInOwl:hasDbXref OMIM:610758 semapv:UnspecifiedMatching -DOID:0080914 cerebrooculofacioskeletal syndrome 4 skos:exactMatch OMIM:610758 semapv:UnspecifiedMatching DOID:0080915 histiocytic sarcoma oboInOwl:hasDbXref ICDO:9755/3 semapv:UnspecifiedMatching DOID:0080915 histiocytic sarcoma oboInOwl:hasDbXref MESH:D054747 semapv:UnspecifiedMatching DOID:0080915 histiocytic sarcoma oboInOwl:hasDbXref NCI:C27349 semapv:UnspecifiedMatching DOID:0080915 histiocytic sarcoma skos:exactMatch MESH:D054747 semapv:UnspecifiedMatching DOID:0080916 erythroleukemia oboInOwl:hasDbXref NCI:C7152 semapv:UnspecifiedMatching -DOID:0080917 sporatic amyotrophic lateral sclerosis oboInOwl:hasDbXref EFO:0001357 semapv:UnspecifiedMatching +DOID:0080917 sporadic amyotrophic lateral sclerosis oboInOwl:hasDbXref EFO:0001357 semapv:UnspecifiedMatching DOID:0080918 polymicrogyria oboInOwl:hasDbXref MESH:D065706 semapv:UnspecifiedMatching DOID:0080918 polymicrogyria oboInOwl:hasDbXref NCI:C116936 semapv:UnspecifiedMatching DOID:0080919 unilateral focal polymicrogyria oboInOwl:hasDbXref ORDO:268947 semapv:UnspecifiedMatching @@ -8358,221 +4144,76 @@ DOID:0080921 bilateral frontal polymicrogyria oboInOwl:hasDbXref GARD:10783 sema DOID:0080921 bilateral frontal polymicrogyria oboInOwl:hasDbXref ORDO:208444 semapv:UnspecifiedMatching DOID:0080922 bilateral frontoparietal polymicrogyria oboInOwl:hasDbXref GARD:10784 semapv:UnspecifiedMatching DOID:0080922 bilateral frontoparietal polymicrogyria oboInOwl:hasDbXref NCI:C148367 semapv:UnspecifiedMatching -DOID:0080922 bilateral frontoparietal polymicrogyria oboInOwl:hasDbXref OMIM:606854 semapv:UnspecifiedMatching -DOID:0080922 bilateral frontoparietal polymicrogyria skos:exactMatch OMIM:606854 semapv:UnspecifiedMatching DOID:0080923 bilateral parasagittal parieto-occipital polymicrogyria oboInOwl:hasDbXref GARD:10785 semapv:UnspecifiedMatching -DOID:0080923 bilateral parasagittal parieto-occipital polymicrogyria oboInOwl:hasDbXref OMIM:612691 semapv:UnspecifiedMatching DOID:0080923 bilateral parasagittal parieto-occipital polymicrogyria oboInOwl:hasDbXref ORDO:208441 semapv:UnspecifiedMatching -DOID:0080923 bilateral parasagittal parieto-occipital polymicrogyria skos:exactMatch OMIM:612691 semapv:UnspecifiedMatching DOID:0080924 bilateral perisylvian polymicrogyria oboInOwl:hasDbXref GARD:6011 semapv:UnspecifiedMatching -DOID:0080924 bilateral perisylvian polymicrogyria oboInOwl:hasDbXref OMIM:615752 semapv:UnspecifiedMatching DOID:0080924 bilateral perisylvian polymicrogyria oboInOwl:hasDbXref ORDO:98889 semapv:UnspecifiedMatching -DOID:0080924 bilateral perisylvian polymicrogyria skos:exactMatch OMIM:615752 semapv:UnspecifiedMatching DOID:0080925 cytochrome P450 oxidoreductase deficiency oboInOwl:hasDbXref GARD:12664 semapv:UnspecifiedMatching DOID:0080925 cytochrome P450 oxidoreductase deficiency oboInOwl:hasDbXref NCI:C131302 semapv:UnspecifiedMatching -DOID:0080925 cytochrome P450 oxidoreductase deficiency oboInOwl:hasDbXref OMIM:613571 semapv:UnspecifiedMatching -DOID:0080925 cytochrome P450 oxidoreductase deficiency skos:exactMatch OMIM:613571 semapv:UnspecifiedMatching DOID:0080926 7q11.23 duplication syndrome oboInOwl:hasDbXref GARD:12076 semapv:UnspecifiedMatching -DOID:0080926 7q11.23 duplication syndrome oboInOwl:hasDbXref OMIM:609757 semapv:UnspecifiedMatching DOID:0080926 7q11.23 duplication syndrome oboInOwl:hasDbXref ORDO:96121 semapv:UnspecifiedMatching -DOID:0080926 7q11.23 duplication syndrome skos:exactMatch OMIM:609757 semapv:UnspecifiedMatching DOID:0080927 apolipoprotein A-IV associated amyloidosis oboInOwl:hasDbXref ORDO:439232 semapv:UnspecifiedMatching DOID:0080928 dialysis-related amyloidosis oboInOwl:hasDbXref GARD:0010563 semapv:UnspecifiedMatching DOID:0080928 dialysis-related amyloidosis oboInOwl:hasDbXref ORDO:439246 semapv:UnspecifiedMatching DOID:0080929 variant ABeta2M amyloidosis oboInOwl:hasDbXref ORDO:314652 semapv:UnspecifiedMatching -DOID:0080930 primary localized cutaneous amyloidosis 1 oboInOwl:hasDbXref OMIM:105250 semapv:UnspecifiedMatching -DOID:0080930 primary localized cutaneous amyloidosis 1 skos:exactMatch OMIM:105250 semapv:UnspecifiedMatching -DOID:0080931 primary localized cutaneous amyloidosis 2 oboInOwl:hasDbXref OMIM:613955 semapv:UnspecifiedMatching -DOID:0080931 primary localized cutaneous amyloidosis 2 skos:exactMatch OMIM:613955 semapv:UnspecifiedMatching -DOID:0080932 primary localized cutaneous amyloidosis 3 oboInOwl:hasDbXref OMIM:617920 semapv:UnspecifiedMatching -DOID:0080932 primary localized cutaneous amyloidosis 3 skos:exactMatch OMIM:617920 semapv:UnspecifiedMatching DOID:0080933 immunoglobulin light chain amyloidosis oboInOwl:hasDbXref ICD10CM:E85.81 semapv:UnspecifiedMatching DOID:0080933 immunoglobulin light chain amyloidosis oboInOwl:hasDbXref MESH:D000075363 semapv:UnspecifiedMatching DOID:0080934 immunoglobulin heavy chain amyloidosis oboInOwl:hasDbXref ORDO:442582 semapv:UnspecifiedMatching DOID:0080936 serum amyloid A amyloidosis oboInOwl:hasDbXref ICD10CM:E85.3 semapv:UnspecifiedMatching -DOID:0080939 hereditary angioedema type I oboInOwl:hasDbXref OMIM:106100 semapv:UnspecifiedMatching -DOID:0080939 hereditary angioedema type I skos:exactMatch OMIM:106100 semapv:UnspecifiedMatching DOID:0080940 hereditary angioedema type III oboInOwl:hasDbXref MESH:D056828 semapv:UnspecifiedMatching -DOID:0080940 hereditary angioedema type III oboInOwl:hasDbXref OMIM:610618 semapv:UnspecifiedMatching -DOID:0080940 hereditary angioedema type III skos:exactMatch OMIM:610618 semapv:UnspecifiedMatching DOID:0080941 acquired angioedema oboInOwl:hasDbXref MESH:C538173 semapv:UnspecifiedMatching DOID:0080942 anauxetic dysplasia oboInOwl:hasDbXref GARD:9657 semapv:UnspecifiedMatching DOID:0080942 anauxetic dysplasia oboInOwl:hasDbXref MESH:C538256 semapv:UnspecifiedMatching -DOID:0080942 anauxetic dysplasia oboInOwl:hasDbXref OMIMPS:607095 semapv:UnspecifiedMatching DOID:0080942 anauxetic dysplasia oboInOwl:hasDbXref ORDO:93347 semapv:UnspecifiedMatching -DOID:0080942 anauxetic dysplasia skos:exactMatch OMIMPS:607095 semapv:UnspecifiedMatching -DOID:0080943 46,XX sex reversal 5 oboInOwl:hasDbXref OMIM:618901 semapv:UnspecifiedMatching -DOID:0080943 46,XX sex reversal 5 skos:exactMatch OMIM:618901 semapv:UnspecifiedMatching -DOID:0080944 familial Behcet-like autoinflammatory syndrome oboInOwl:hasDbXref OMIM:616744 semapv:UnspecifiedMatching -DOID:0080944 familial Behcet-like autoinflammatory syndrome skos:exactMatch OMIM:616744 semapv:UnspecifiedMatching -DOID:0080945 abdominal obesity-metabolic syndrome 4 oboInOwl:hasDbXref OMIM:618620 semapv:UnspecifiedMatching -DOID:0080945 abdominal obesity-metabolic syndrome 4 skos:exactMatch OMIM:618620 semapv:UnspecifiedMatching -DOID:0080946 retinal dystrophy with leukodystrophy oboInOwl:hasDbXref OMIM:618863 semapv:UnspecifiedMatching -DOID:0080946 retinal dystrophy with leukodystrophy skos:exactMatch OMIM:618863 semapv:UnspecifiedMatching DOID:0080947 acute flaccid myelitis oboInOwl:hasDbXref MESH:C000629404 semapv:UnspecifiedMatching -DOID:0080948 agenesis of corpus callosum, cardiac, ocular, and genital syndrome oboInOwl:hasDbXref OMIM:618929 semapv:UnspecifiedMatching -DOID:0080948 agenesis of corpus callosum, cardiac, ocular, and genital syndrome skos:exactMatch OMIM:618929 semapv:UnspecifiedMatching -DOID:0080950 alopecia-mental retardation syndrome 4 oboInOwl:hasDbXref OMIM:618840 semapv:UnspecifiedMatching -DOID:0080950 alopecia-mental retardation syndrome 4 skos:exactMatch OMIM:618840 semapv:UnspecifiedMatching -DOID:0080951 alopecia-mental retardation syndrome 3 oboInOwl:hasDbXref OMIM:613930 semapv:UnspecifiedMatching -DOID:0080951 alopecia-mental retardation syndrome 3 skos:exactMatch OMIM:613930 semapv:UnspecifiedMatching -DOID:0080952 AMED syndrome oboInOwl:hasDbXref OMIM:619151 semapv:UnspecifiedMatching -DOID:0080952 AMED syndrome skos:exactMatch OMIM:619151 semapv:UnspecifiedMatching -DOID:0080953 amelogenesis imperfecta type 1J oboInOwl:hasDbXref OMIM:617297 semapv:UnspecifiedMatching -DOID:0080953 amelogenesis imperfecta type 1J skos:exactMatch OMIM:617297 semapv:UnspecifiedMatching DOID:0080954 arthrogryposis multiplex congenita oboInOwl:hasDbXref GARD:777 semapv:UnspecifiedMatching -DOID:0080954 arthrogryposis multiplex congenita oboInOwl:hasDbXref OMIMPS:617468 semapv:UnspecifiedMatching -DOID:0080954 arthrogryposis multiplex congenita skos:exactMatch OMIMPS:617468 semapv:UnspecifiedMatching DOID:0080956 childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered oboInOwl:hasDbXref NCI:C6772 semapv:UnspecifiedMatching DOID:0080957 primary hypoalphalipoproteinemia 1 oboInOwl:hasDbXref GARD:2872 semapv:UnspecifiedMatching -DOID:0080957 primary hypoalphalipoproteinemia 1 oboInOwl:hasDbXref OMIM:604091 semapv:UnspecifiedMatching DOID:0080957 primary hypoalphalipoproteinemia 1 oboInOwl:hasDbXref ORDO:425 semapv:UnspecifiedMatching -DOID:0080957 primary hypoalphalipoproteinemia 1 skos:exactMatch OMIM:604091 semapv:UnspecifiedMatching DOID:0080958 primary hypoalphalipoproteinemia 2 oboInOwl:hasDbXref GARD:758 semapv:UnspecifiedMatching -DOID:0080958 primary hypoalphalipoproteinemia 2 oboInOwl:hasDbXref OMIM:618463 semapv:UnspecifiedMatching DOID:0080958 primary hypoalphalipoproteinemia 2 oboInOwl:hasDbXref ORDO:425 semapv:UnspecifiedMatching -DOID:0080958 primary hypoalphalipoproteinemia 2 skos:exactMatch OMIM:618463 semapv:UnspecifiedMatching -DOID:0080959 arrhythmogenic right ventricular dysplasia 14 oboInOwl:hasDbXref OMIM:618920 semapv:UnspecifiedMatching -DOID:0080959 arrhythmogenic right ventricular dysplasia 14 skos:exactMatch OMIM:618920 semapv:UnspecifiedMatching -DOID:0080960 amelogenesis imperfecta type 2A6 oboInOwl:hasDbXref OMIM:617217 semapv:UnspecifiedMatching -DOID:0080960 amelogenesis imperfecta type 2A6 skos:exactMatch OMIM:617217 semapv:UnspecifiedMatching -DOID:0080962 anauxetic dysplasia 2 oboInOwl:hasDbXref OMIM:617396 semapv:UnspecifiedMatching -DOID:0080962 anauxetic dysplasia 2 skos:exactMatch OMIM:617396 semapv:UnspecifiedMatching -DOID:0080963 anauxetic dysplasia 3 oboInOwl:hasDbXref OMIM:618853 semapv:UnspecifiedMatching -DOID:0080963 anauxetic dysplasia 3 skos:exactMatch OMIM:618853 semapv:UnspecifiedMatching -DOID:0080964 intracranial berry aneurysm 1 oboInOwl:hasDbXref OMIM:105800 semapv:UnspecifiedMatching -DOID:0080964 intracranial berry aneurysm 1 skos:exactMatch OMIM:105800 semapv:UnspecifiedMatching -DOID:0080965 intracranial berry aneurysm 2 oboInOwl:hasDbXref OMIM:608542 semapv:UnspecifiedMatching -DOID:0080965 intracranial berry aneurysm 2 skos:exactMatch OMIM:608542 semapv:UnspecifiedMatching -DOID:0080966 intracranial berry aneurysm 3 oboInOwl:hasDbXref OMIM:609122 semapv:UnspecifiedMatching -DOID:0080966 intracranial berry aneurysm 3 skos:exactMatch OMIM:609122 semapv:UnspecifiedMatching -DOID:0080967 intracranial berry aneurysm 4 oboInOwl:hasDbXref OMIM:610213 semapv:UnspecifiedMatching -DOID:0080967 intracranial berry aneurysm 4 skos:exactMatch OMIM:610213 semapv:UnspecifiedMatching -DOID:0080968 intracranial berry aneurysm 5 oboInOwl:hasDbXref OMIM:300870 semapv:UnspecifiedMatching -DOID:0080968 intracranial berry aneurysm 5 skos:exactMatch OMIM:300870 semapv:UnspecifiedMatching -DOID:0080969 intracranial berry aneurysm 6 oboInOwl:hasDbXref OMIM:611892 semapv:UnspecifiedMatching -DOID:0080969 intracranial berry aneurysm 6 skos:exactMatch OMIM:611892 semapv:UnspecifiedMatching -DOID:0080970 intracranial berry aneurysm 7 oboInOwl:hasDbXref OMIM:612161 semapv:UnspecifiedMatching -DOID:0080970 intracranial berry aneurysm 7 skos:exactMatch OMIM:612161 semapv:UnspecifiedMatching -DOID:0080971 intracranial berry aneurysm 8 oboInOwl:hasDbXref OMIM:612162 semapv:UnspecifiedMatching -DOID:0080971 intracranial berry aneurysm 8 skos:exactMatch OMIM:612162 semapv:UnspecifiedMatching -DOID:0080972 intracranial berry aneurysm 9 oboInOwl:hasDbXref OMIM:612586 semapv:UnspecifiedMatching -DOID:0080972 intracranial berry aneurysm 9 skos:exactMatch OMIM:612586 semapv:UnspecifiedMatching -DOID:0080973 intracranial berry aneurysm 10 oboInOwl:hasDbXref OMIM:612587 semapv:UnspecifiedMatching -DOID:0080973 intracranial berry aneurysm 10 skos:exactMatch OMIM:612587 semapv:UnspecifiedMatching -DOID:0080974 intracranial berry aneurysm 11 oboInOwl:hasDbXref OMIM:614252 semapv:UnspecifiedMatching -DOID:0080974 intracranial berry aneurysm 11 skos:exactMatch OMIM:614252 semapv:UnspecifiedMatching -DOID:0080975 intracranial berry aneurysm 12 oboInOwl:hasDbXref OMIM:618734 semapv:UnspecifiedMatching -DOID:0080975 intracranial berry aneurysm 12 skos:exactMatch OMIM:618734 semapv:UnspecifiedMatching DOID:0080976 acute myeloid leukemia with BCR-ABL1 oboInOwl:hasDbXref ICDO:9912/3 semapv:UnspecifiedMatching DOID:0080976 acute myeloid leukemia with BCR-ABL1 oboInOwl:hasDbXref NCI:C129785 semapv:UnspecifiedMatching -DOID:0080977 aortic valve disease 3 oboInOwl:hasDbXref OMIM:618496 semapv:UnspecifiedMatching -DOID:0080977 aortic valve disease 3 skos:exactMatch OMIM:618496 semapv:UnspecifiedMatching -DOID:0080978 arthrogryposis multiplex congenita-1 oboInOwl:hasDbXref OMIM:617468 semapv:UnspecifiedMatching -DOID:0080978 arthrogryposis multiplex congenita-1 skos:exactMatch OMIM:617468 semapv:UnspecifiedMatching -DOID:0080979 arthrogryposis multiplex congenita-3 oboInOwl:hasDbXref OMIM:618484 semapv:UnspecifiedMatching -DOID:0080979 arthrogryposis multiplex congenita-3 skos:exactMatch OMIM:618484 semapv:UnspecifiedMatching -DOID:0080980 arthrogryposis multiplex congenita-4 oboInOwl:hasDbXref OMIM:618766 semapv:UnspecifiedMatching -DOID:0080980 arthrogryposis multiplex congenita-4 skos:exactMatch OMIM:618766 semapv:UnspecifiedMatching -DOID:0080981 arthrogryposis multiplex congenita-5 oboInOwl:hasDbXref OMIM:618947 semapv:UnspecifiedMatching -DOID:0080981 arthrogryposis multiplex congenita-5 skos:exactMatch OMIM:618947 semapv:UnspecifiedMatching DOID:0080984 X-linked intellectual developmental disorder 109 oboInOwl:hasDbXref GARD:2378 semapv:UnspecifiedMatching -DOID:0080984 X-linked intellectual developmental disorder 109 oboInOwl:hasDbXref OMIM:309548 semapv:UnspecifiedMatching DOID:0080984 X-linked intellectual developmental disorder 109 oboInOwl:hasDbXref ORDO:100973 semapv:UnspecifiedMatching -DOID:0080984 X-linked intellectual developmental disorder 109 skos:exactMatch OMIM:309548 semapv:UnspecifiedMatching DOID:0080985 syndromic X-linked intellectual disorder Lujan-Fryns-type oboInOwl:hasDbXref GARD:3307 semapv:UnspecifiedMatching -DOID:0080985 syndromic X-linked intellectual disorder Lujan-Fryns-type oboInOwl:hasDbXref OMIM:309520 semapv:UnspecifiedMatching DOID:0080985 syndromic X-linked intellectual disorder Lujan-Fryns-type oboInOwl:hasDbXref ORDO:776 semapv:UnspecifiedMatching -DOID:0080985 syndromic X-linked intellectual disorder Lujan-Fryns-type skos:exactMatch OMIM:309520 semapv:UnspecifiedMatching DOID:0080986 Ehlers-Danlos syndrome periodontal type 1 oboInOwl:hasDbXref GARD:12474 semapv:UnspecifiedMatching -DOID:0080986 Ehlers-Danlos syndrome periodontal type 1 oboInOwl:hasDbXref OMIM:130080 semapv:UnspecifiedMatching DOID:0080986 Ehlers-Danlos syndrome periodontal type 1 oboInOwl:hasDbXref ORDO:75392 semapv:UnspecifiedMatching -DOID:0080986 Ehlers-Danlos syndrome periodontal type 1 skos:exactMatch OMIM:130080 semapv:UnspecifiedMatching DOID:0080987 Ehlers-Danlos syndrome periodontal type 2 oboInOwl:hasDbXref GARD:12474 semapv:UnspecifiedMatching -DOID:0080987 Ehlers-Danlos syndrome periodontal type 2 oboInOwl:hasDbXref OMIM:617174 semapv:UnspecifiedMatching DOID:0080987 Ehlers-Danlos syndrome periodontal type 2 oboInOwl:hasDbXref ORDO:75392 semapv:UnspecifiedMatching -DOID:0080987 Ehlers-Danlos syndrome periodontal type 2 skos:exactMatch OMIM:617174 semapv:UnspecifiedMatching DOID:0080988 pretibial dystrophic epidermolysis bullosa oboInOwl:hasDbXref GARD:2155 semapv:UnspecifiedMatching -DOID:0080988 pretibial dystrophic epidermolysis bullosa oboInOwl:hasDbXref OMIM:131850 semapv:UnspecifiedMatching DOID:0080988 pretibial dystrophic epidermolysis bullosa oboInOwl:hasDbXref ORDO:79410 semapv:UnspecifiedMatching -DOID:0080988 pretibial dystrophic epidermolysis bullosa skos:exactMatch OMIM:131850 semapv:UnspecifiedMatching DOID:0080990 King Denborough syndrome oboInOwl:hasDbXref GARD:8433 semapv:UnspecifiedMatching DOID:0080990 King Denborough syndrome oboInOwl:hasDbXref MESH:C536883 semapv:UnspecifiedMatching -DOID:0080990 King Denborough syndrome oboInOwl:hasDbXref OMIM:619542 semapv:UnspecifiedMatching DOID:0080990 King Denborough syndrome oboInOwl:hasDbXref ORDO:99741 semapv:UnspecifiedMatching DOID:0080990 King Denborough syndrome skos:exactMatch MESH:C536883 semapv:UnspecifiedMatching -DOID:0080990 King Denborough syndrome skos:exactMatch OMIM:619542 semapv:UnspecifiedMatching -DOID:0080990 King Denborough syndrome skos:exactMatch OMIM:619542 semapv:UnspecifiedMatching DOID:0080991 congenital myopathy 1B oboInOwl:hasDbXref GARD:10316 semapv:UnspecifiedMatching -DOID:0080991 congenital myopathy 1B oboInOwl:hasDbXref OMIM:255320 semapv:UnspecifiedMatching DOID:0080991 congenital myopathy 1B oboInOwl:hasDbXref ORDO:598 semapv:UnspecifiedMatching -DOID:0080991 congenital myopathy 1B skos:exactMatch OMIM:255320 semapv:UnspecifiedMatching DOID:0080996 diffuse large B-cell lymphoma activated B-cell type oboInOwl:hasDbXref NCI:C36081 semapv:UnspecifiedMatching DOID:0080997 diffuse large B-cell lymphoma germinal center B-cell type oboInOwl:hasDbXref NCI:C36080 semapv:UnspecifiedMatching DOID:0080998 acute necrotizing pancreatitis oboInOwl:hasDbXref MESH:D019283 semapv:UnspecifiedMatching DOID:0080999 acute hemorrhagic pancreatitis oboInOwl:hasDbXref MESH:D000081032 semapv:UnspecifiedMatching -DOID:0081000 Cowden syndrome 4 oboInOwl:hasDbXref OMIM:615107 semapv:UnspecifiedMatching -DOID:0081000 Cowden syndrome 4 skos:exactMatch OMIM:615107 semapv:UnspecifiedMatching -DOID:0081001 Cowden syndrome 5 oboInOwl:hasDbXref OMIM:615108 semapv:UnspecifiedMatching -DOID:0081001 Cowden syndrome 5 skos:exactMatch OMIM:615108 semapv:UnspecifiedMatching -DOID:0081002 Cowden syndrome 6 oboInOwl:hasDbXref OMIM:615109 semapv:UnspecifiedMatching -DOID:0081002 Cowden syndrome 6 skos:exactMatch OMIM:615109 semapv:UnspecifiedMatching -DOID:0081003 Cowden syndrome 7 oboInOwl:hasDbXref OMIM:616858 semapv:UnspecifiedMatching -DOID:0081003 Cowden syndrome 7 skos:exactMatch OMIM:616858 semapv:UnspecifiedMatching DOID:0081004 high-grade B-cell lymphoma double-hit/triple-hit oboInOwl:hasDbXref NCI:C125904 semapv:UnspecifiedMatching DOID:0081007 RNASET2-deficient cystic leukoencephalopathy oboInOwl:hasDbXref GARD:13199 semapv:UnspecifiedMatching -DOID:0081007 RNASET2-deficient cystic leukoencephalopathy oboInOwl:hasDbXref OMIM:612951 semapv:UnspecifiedMatching DOID:0081007 RNASET2-deficient cystic leukoencephalopathy oboInOwl:hasDbXref ORDO:85136 semapv:UnspecifiedMatching -DOID:0081007 RNASET2-deficient cystic leukoencephalopathy skos:exactMatch OMIM:612951 semapv:UnspecifiedMatching -DOID:0081008 intellectual developmental disorder with cardiac arrhythmia oboInOwl:hasDbXref OMIM:617173 semapv:UnspecifiedMatching DOID:0081008 intellectual developmental disorder with cardiac arrhythmia oboInOwl:hasDbXref ORDO:542306 semapv:UnspecifiedMatching -DOID:0081008 intellectual developmental disorder with cardiac arrhythmia skos:exactMatch OMIM:617173 semapv:UnspecifiedMatching -DOID:0081009 Bardet-Biedl syndrome 20 oboInOwl:hasDbXref OMIM:619471 semapv:UnspecifiedMatching -DOID:0081009 Bardet-Biedl syndrome 20 skos:exactMatch OMIM:619471 semapv:UnspecifiedMatching -DOID:0081010 Bardet-Biedl syndrome 21 oboInOwl:hasDbXref OMIM:617406 semapv:UnspecifiedMatching -DOID:0081010 Bardet-Biedl syndrome 21 skos:exactMatch OMIM:617406 semapv:UnspecifiedMatching -DOID:0081011 Bardet-Biedl syndrome 22 oboInOwl:hasDbXref OMIM:617119 semapv:UnspecifiedMatching -DOID:0081011 Bardet-Biedl syndrome 22 skos:exactMatch OMIM:617119 semapv:UnspecifiedMatching -DOID:0081015 congenital fibrosis of the extraocular muscles 1 oboInOwl:hasDbXref OMIM:135700 semapv:UnspecifiedMatching -DOID:0081015 congenital fibrosis of the extraocular muscles 1 skos:exactMatch OMIM:135700 semapv:UnspecifiedMatching -DOID:0081016 congenital fibrosis of the extraocular muscles 2 oboInOwl:hasDbXref OMIM:602078 semapv:UnspecifiedMatching -DOID:0081016 congenital fibrosis of the extraocular muscles 2 skos:exactMatch OMIM:602078 semapv:UnspecifiedMatching -DOID:0081017 congenital fibrosis of the extraocular muscles 3A oboInOwl:hasDbXref OMIM:600638 semapv:UnspecifiedMatching -DOID:0081017 congenital fibrosis of the extraocular muscles 3A skos:exactMatch OMIM:600638 semapv:UnspecifiedMatching -DOID:0081019 congenital fibrosis of the extraocular muscles 3C oboInOwl:hasDbXref OMIM:609384 semapv:UnspecifiedMatching -DOID:0081019 congenital fibrosis of the extraocular muscles 3C skos:exactMatch OMIM:609384 semapv:UnspecifiedMatching -DOID:0081020 congenital fibrosis of the extraocular muscles 5 oboInOwl:hasDbXref OMIM:616219 semapv:UnspecifiedMatching -DOID:0081020 congenital fibrosis of the extraocular muscles 5 skos:exactMatch OMIM:616219 semapv:UnspecifiedMatching DOID:0081021 Tukel syndrome oboInOwl:hasDbXref GARD:9814 semapv:UnspecifiedMatching DOID:0081021 Tukel syndrome oboInOwl:hasDbXref MESH:C536925 semapv:UnspecifiedMatching -DOID:0081021 Tukel syndrome oboInOwl:hasDbXref OMIM:609428 semapv:UnspecifiedMatching -DOID:0081021 Tukel syndrome skos:exactMatch OMIM:609428 semapv:UnspecifiedMatching DOID:0081022 retinal cone dystrophy 3B oboInOwl:hasDbXref GARD:10649 semapv:UnspecifiedMatching DOID:0081022 retinal cone dystrophy 3B oboInOwl:hasDbXref MESH:C563678 semapv:UnspecifiedMatching -DOID:0081022 retinal cone dystrophy 3B oboInOwl:hasDbXref OMIM:610356 semapv:UnspecifiedMatching DOID:0081022 retinal cone dystrophy 3B oboInOwl:hasDbXref ORDO:209932 semapv:UnspecifiedMatching -DOID:0081022 retinal cone dystrophy 3B skos:exactMatch OMIM:610356 semapv:UnspecifiedMatching DOID:0081023 retinal cone dystrophy 4 oboInOwl:hasDbXref GARD:10650 semapv:UnspecifiedMatching DOID:0081023 retinal cone dystrophy 4 oboInOwl:hasDbXref MESH:C566470 semapv:UnspecifiedMatching -DOID:0081023 retinal cone dystrophy 4 oboInOwl:hasDbXref OMIM:610478 semapv:UnspecifiedMatching -DOID:0081023 retinal cone dystrophy 4 skos:exactMatch OMIM:610478 semapv:UnspecifiedMatching DOID:0081024 retinal cone dystrophy 1 oboInOwl:hasDbXref GARD:3196 semapv:UnspecifiedMatching DOID:0081024 retinal cone dystrophy 1 oboInOwl:hasDbXref MESH:C566719 semapv:UnspecifiedMatching -DOID:0081024 retinal cone dystrophy 1 oboInOwl:hasDbXref OMIM:180020 semapv:UnspecifiedMatching -DOID:0081024 retinal cone dystrophy 1 skos:exactMatch OMIM:180020 semapv:UnspecifiedMatching DOID:0081025 retinal cone dystrophy 3A oboInOwl:hasDbXref GARD:10648 semapv:UnspecifiedMatching DOID:0081025 retinal cone dystrophy 3A oboInOwl:hasDbXref MESH:C566483 semapv:UnspecifiedMatching -DOID:0081025 retinal cone dystrophy 3A oboInOwl:hasDbXref OMIM:610024 semapv:UnspecifiedMatching -DOID:0081025 retinal cone dystrophy 3A skos:exactMatch OMIM:610024 semapv:UnspecifiedMatching DOID:0081026 benign peritoneal solitary fibrous tumor oboInOwl:hasDbXref NCI:C126357 semapv:UnspecifiedMatching DOID:0081028 glycogen-rich carcinoma oboInOwl:hasDbXref ICDO:8315/3 semapv:UnspecifiedMatching DOID:0081028 glycogen-rich carcinoma oboInOwl:hasDbXref NCI:C4153 semapv:UnspecifiedMatching DOID:0081028 glycogen-rich carcinoma oboInOwl:hasDbXref UMLS:C0334319 semapv:UnspecifiedMatching -DOID:0081030 central conducting lymphatic anomaly oboInOwl:hasDbXref OMIM:617300 semapv:UnspecifiedMatching -DOID:0081030 central conducting lymphatic anomaly skos:exactMatch OMIM:617300 semapv:UnspecifiedMatching -DOID:0081034 glutatione synthetase deficiency with 5-oxoprolinuria oboInOwl:hasDbXref OMIM:266130 semapv:UnspecifiedMatching DOID:0081034 glutatione synthetase deficiency with 5-oxoprolinuria oboInOwl:hasDbXref ORDO:32 semapv:UnspecifiedMatching -DOID:0081034 glutatione synthetase deficiency with 5-oxoprolinuria skos:exactMatch OMIM:266130 semapv:UnspecifiedMatching DOID:0081036 mixed phenotype acute leukemia with BCR-ABL1 oboInOwl:hasDbXref ICDO:9806/3 semapv:UnspecifiedMatching DOID:0081036 mixed phenotype acute leukemia with BCR-ABL1 oboInOwl:hasDbXref NCI:C82192 semapv:UnspecifiedMatching DOID:0081037 mixed phenotype acute leukemia with MLL rearranged oboInOwl:hasDbXref ICDO:9807/3 semapv:UnspecifiedMatching @@ -8588,65 +4229,29 @@ DOID:0081042 T-cell prolymphocytic leukemia oboInOwl:hasDbXref ICDO:9834/3 semap DOID:0081042 T-cell prolymphocytic leukemia oboInOwl:hasDbXref NCI:C4752 semapv:UnspecifiedMatching DOID:0081042 T-cell prolymphocytic leukemia oboInOwl:hasDbXref ORDO:86871 semapv:UnspecifiedMatching DOID:0081043 fetal akinesia deformation sequence syndrome X-linked oboInOwl:hasDbXref GARD:2293 semapv:UnspecifiedMatching -DOID:0081043 fetal akinesia deformation sequence syndrome X-linked oboInOwl:hasDbXref OMIM:300073 semapv:UnspecifiedMatching -DOID:0081043 fetal akinesia deformation sequence syndrome X-linked skos:exactMatch OMIM:300073 semapv:UnspecifiedMatching DOID:0081044 frontonasal dysplasia oboInOwl:hasDbXref GARD:2392 semapv:UnspecifiedMatching DOID:0081044 frontonasal dysplasia oboInOwl:hasDbXref MESH:C538065 semapv:UnspecifiedMatching -DOID:0081044 frontonasal dysplasia oboInOwl:hasDbXref OMIMPS:136760 semapv:UnspecifiedMatching -DOID:0081044 frontonasal dysplasia skos:exactMatch OMIMPS:136760 semapv:UnspecifiedMatching -DOID:0081045 frontonasal dysplasia 1 oboInOwl:hasDbXref OMIM:136760 semapv:UnspecifiedMatching -DOID:0081045 frontonasal dysplasia 1 skos:exactMatch OMIM:136760 semapv:UnspecifiedMatching -DOID:0081046 frontonasal dysplasia 2 oboInOwl:hasDbXref OMIM:613451 semapv:UnspecifiedMatching -DOID:0081046 frontonasal dysplasia 2 skos:exactMatch OMIM:613451 semapv:UnspecifiedMatching -DOID:0081047 frontonasal dysplasia 3 oboInOwl:hasDbXref OMIM:613456 semapv:UnspecifiedMatching -DOID:0081047 frontonasal dysplasia 3 skos:exactMatch OMIM:613456 semapv:UnspecifiedMatching -DOID:0081048 congenital limbs-face contractures-hypotonia-developmental delay syndrome oboInOwl:hasDbXref OMIM:616266 semapv:UnspecifiedMatching DOID:0081048 congenital limbs-face contractures-hypotonia-developmental delay syndrome oboInOwl:hasDbXref ORDO:562528 semapv:UnspecifiedMatching -DOID:0081048 congenital limbs-face contractures-hypotonia-developmental delay syndrome skos:exactMatch OMIM:616266 semapv:UnspecifiedMatching DOID:0081049 hepatosplenic T-cell lymphoma oboInOwl:hasDbXref NCI:C8459 semapv:UnspecifiedMatching DOID:0081049 hepatosplenic T-cell lymphoma oboInOwl:hasDbXref ORDO:86882 semapv:UnspecifiedMatching DOID:0081050 primary cutaneous gamma-delta T-cell lymphoma oboInOwl:hasDbXref NCI:C45340 semapv:UnspecifiedMatching -DOID:0081051 microcephaly, growth deficiency, seizures, and brain malformations oboInOwl:hasDbXref OMIM:618346 semapv:UnspecifiedMatching -DOID:0081051 microcephaly, growth deficiency, seizures, and brain malformations skos:exactMatch OMIM:618346 semapv:UnspecifiedMatching DOID:0081055 central diabetes insipidus oboInOwl:hasDbXref GARD:6015 semapv:UnspecifiedMatching DOID:0081055 central diabetes insipidus oboInOwl:hasDbXref ORDO:178029 semapv:UnspecifiedMatching DOID:0081057 gestational diabetes insipidus oboInOwl:hasDbXref MESH:C548014 semapv:UnspecifiedMatching DOID:0081058 dipsogenic diabetes insipidus oboInOwl:hasDbXref MESH:C548013 semapv:UnspecifiedMatching -DOID:0081059 X-linked central diabetes insipidus oboInOwl:hasDbXref OMIM:304900 semapv:UnspecifiedMatching DOID:0081059 X-linked central diabetes insipidus oboInOwl:hasDbXref ORDO:30925 semapv:UnspecifiedMatching -DOID:0081059 X-linked central diabetes insipidus skos:exactMatch OMIM:304900 semapv:UnspecifiedMatching -DOID:0081060 X-linked nephrogenic diabetes insipidus oboInOwl:hasDbXref OMIM:304800 semapv:UnspecifiedMatching -DOID:0081060 X-linked nephrogenic diabetes insipidus skos:exactMatch OMIM:304800 semapv:UnspecifiedMatching -DOID:0081061 nephrogenic diabetes insipidus type 2 oboInOwl:hasDbXref OMIM:125800 semapv:UnspecifiedMatching -DOID:0081061 nephrogenic diabetes insipidus type 2 skos:exactMatch OMIM:125800 semapv:UnspecifiedMatching -DOID:0081063 DICER1 syndrome oboInOwl:hasDbXref OMIM:601200 semapv:UnspecifiedMatching DOID:0081063 DICER1 syndrome oboInOwl:hasDbXref ORDO:284343 semapv:UnspecifiedMatching -DOID:0081063 DICER1 syndrome skos:exactMatch OMIM:601200 semapv:UnspecifiedMatching DOID:0081064 BN2 diffuse large B-cell lymphoma oboInOwl:hasDbXref NCI:C148395 semapv:UnspecifiedMatching DOID:0081065 EZB diffuse large B-cell lymphoma oboInOwl:hasDbXref NCI:C148398 semapv:UnspecifiedMatching DOID:0081066 MCD diffuse large B-cell lymphoma oboInOwl:hasDbXref NCI:C148394 semapv:UnspecifiedMatching DOID:0081067 N1 diffuse large B-cell lymphoma oboInOwl:hasDbXref NCI:C148396 semapv:UnspecifiedMatching DOID:0081072 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome oboInOwl:hasDbXref GARD:1210 semapv:UnspecifiedMatching -DOID:0081072 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome oboInOwl:hasDbXref OMIMPS:213980 semapv:UnspecifiedMatching DOID:0081072 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome oboInOwl:hasDbXref ORDO:1394 semapv:UnspecifiedMatching -DOID:0081072 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome skos:exactMatch OMIMPS:213980 semapv:UnspecifiedMatching DOID:0081073 Teebi hypertelorism syndrome oboInOwl:hasDbXref GARD:957 semapv:UnspecifiedMatching -DOID:0081073 Teebi hypertelorism syndrome oboInOwl:hasDbXref OMIMPS:145420 semapv:UnspecifiedMatching DOID:0081073 Teebi hypertelorism syndrome oboInOwl:hasDbXref ORDO:2745 semapv:UnspecifiedMatching -DOID:0081073 Teebi hypertelorism syndrome skos:exactMatch OMIMPS:145420 semapv:UnspecifiedMatching -DOID:0081074 Teebi hypertelorism syndrome 2 oboInOwl:hasDbXref OMIM:619736 semapv:UnspecifiedMatching -DOID:0081074 Teebi hypertelorism syndrome 2 skos:exactMatch OMIM:619736 semapv:UnspecifiedMatching -DOID:0081075 Marsili syndrome oboInOwl:hasDbXref OMIM:147430 semapv:UnspecifiedMatching -DOID:0081075 Marsili syndrome skos:exactMatch OMIM:147430 semapv:UnspecifiedMatching DOID:0081076 blastic plasmacytoid dendritic cell neoplasm oboInOwl:hasDbXref NCI:C7203 semapv:UnspecifiedMatching DOID:0081077 ectodermal dysplasia and immune deficiency oboInOwl:hasDbXref GARD:9936 semapv:UnspecifiedMatching -DOID:0081077 ectodermal dysplasia and immune deficiency oboInOwl:hasDbXref OMIMPS:300291 semapv:UnspecifiedMatching -DOID:0081077 ectodermal dysplasia and immune deficiency skos:exactMatch OMIMPS:300291 semapv:UnspecifiedMatching -DOID:0081078 ectodermal dysplasia and immunodeficiency 1 oboInOwl:hasDbXref OMIM:300291 semapv:UnspecifiedMatching DOID:0081078 ectodermal dysplasia and immunodeficiency 1 oboInOwl:hasDbXref ORDO:69088 semapv:UnspecifiedMatching -DOID:0081078 ectodermal dysplasia and immunodeficiency 1 skos:exactMatch OMIM:300291 semapv:UnspecifiedMatching -DOID:0081079 ectodermal dysplasia and immunodeficiency 2 oboInOwl:hasDbXref OMIM:612132 semapv:UnspecifiedMatching -DOID:0081079 ectodermal dysplasia and immunodeficiency 2 skos:exactMatch OMIM:612132 semapv:UnspecifiedMatching DOID:0081080 acute myeloid leukemia with t(6;9) (p23;q34.1) oboInOwl:hasDbXref ICDO:9865/3 semapv:UnspecifiedMatching DOID:0081080 acute myeloid leukemia with t(6;9) (p23;q34.1) oboInOwl:hasDbXref NCI:C82423 semapv:UnspecifiedMatching DOID:0081080 acute myeloid leukemia with t(6;9) (p23;q34.1) oboInOwl:hasDbXref UMLS:C2826169 semapv:UnspecifiedMatching @@ -8699,311 +4304,42 @@ DOID:0081095 acute myeloid leukemia with mutated CEBPA oboInOwl:hasDbXref ICDO:9 DOID:0081095 acute myeloid leukemia with mutated CEBPA oboInOwl:hasDbXref NCI:C82433 semapv:UnspecifiedMatching DOID:0081096 acute myeloid leukemia with t(1;22)(p13;q13) oboInOwl:hasDbXref ICDO:9911/3 semapv:UnspecifiedMatching DOID:0081096 acute myeloid leukemia with t(1;22)(p13;q13) oboInOwl:hasDbXref NCI:C82427 semapv:UnspecifiedMatching -DOID:0081097 Rafiq syndrome oboInOwl:hasDbXref OMIM:614202 semapv:UnspecifiedMatching -DOID:0081097 Rafiq syndrome skos:exactMatch OMIM:614202 semapv:UnspecifiedMatching -DOID:0081098 autosomal recessive intellectual developmental disorder 13 oboInOwl:hasDbXref OMIM:613192 semapv:UnspecifiedMatching -DOID:0081098 autosomal recessive intellectual developmental disorder 13 skos:exactMatch OMIM:613192 semapv:UnspecifiedMatching -DOID:0081099 neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies oboInOwl:hasDbXref OMIM:615286 semapv:UnspecifiedMatching -DOID:0081099 neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies skos:exactMatch OMIM:615286 semapv:UnspecifiedMatching DOID:0081100 spastic paraplegia with deafness oboInOwl:hasDbXref GARD:5555 semapv:UnspecifiedMatching DOID:0081100 spastic paraplegia with deafness oboInOwl:hasDbXref MESH:C536692 semapv:UnspecifiedMatching -DOID:0081100 spastic paraplegia with deafness oboInOwl:hasDbXref OMIM:312910 semapv:UnspecifiedMatching DOID:0081100 spastic paraplegia with deafness oboInOwl:hasDbXref ORDO:2815 semapv:UnspecifiedMatching -DOID:0081100 spastic paraplegia with deafness skos:exactMatch OMIM:312910 semapv:UnspecifiedMatching -DOID:0081101 nonautoimmune hyperthyroidism oboInOwl:hasDbXref OMIM:609152 semapv:UnspecifiedMatching DOID:0081101 nonautoimmune hyperthyroidism oboInOwl:hasDbXref ORDO:424 semapv:UnspecifiedMatching -DOID:0081101 nonautoimmune hyperthyroidism skos:exactMatch OMIM:609152 semapv:UnspecifiedMatching -DOID:0081102 familial gestational hyperthyroidism oboInOwl:hasDbXref OMIM:603373 semapv:UnspecifiedMatching DOID:0081102 familial gestational hyperthyroidism oboInOwl:hasDbXref ORDO:99819 semapv:UnspecifiedMatching -DOID:0081102 familial gestational hyperthyroidism skos:exactMatch OMIM:603373 semapv:UnspecifiedMatching -DOID:0081104 hot water epilepsy oboInOwl:hasDbXref OMIMPS:613339 semapv:UnspecifiedMatching DOID:0081104 hot water epilepsy oboInOwl:hasDbXref ORDO:166412 semapv:UnspecifiedMatching -DOID:0081104 hot water epilepsy skos:exactMatch OMIMPS:613339 semapv:UnspecifiedMatching DOID:0081105 keratosis palmoplantaris striata oboInOwl:hasDbXref ORDO:50942 semapv:UnspecifiedMatching -DOID:0081106 hot water epilepsy 1 oboInOwl:hasDbXref OMIM:613339 semapv:UnspecifiedMatching -DOID:0081106 hot water epilepsy 1 skos:exactMatch OMIM:613339 semapv:UnspecifiedMatching -DOID:0081107 hot water epilepsy 2 oboInOwl:hasDbXref OMIM:613340 semapv:UnspecifiedMatching -DOID:0081107 hot water epilepsy 2 skos:exactMatch OMIM:613340 semapv:UnspecifiedMatching DOID:0081108 keratosis palmoplantaris striata 1 oboInOwl:hasDbXref GARD:9172 semapv:UnspecifiedMatching DOID:0081108 keratosis palmoplantaris striata 1 oboInOwl:hasDbXref MESH:C536162 semapv:UnspecifiedMatching -DOID:0081108 keratosis palmoplantaris striata 1 oboInOwl:hasDbXref OMIM:148700 semapv:UnspecifiedMatching DOID:0081108 keratosis palmoplantaris striata 1 oboInOwl:hasDbXref ORDO:369999 semapv:UnspecifiedMatching DOID:0081108 keratosis palmoplantaris striata 1 oboInOwl:hasDbXref ORDO:370002 semapv:UnspecifiedMatching -DOID:0081108 keratosis palmoplantaris striata 1 skos:exactMatch OMIM:148700 semapv:UnspecifiedMatching DOID:0081109 keratosis palmoplantaris striata 2 oboInOwl:hasDbXref MESH:C565102 semapv:UnspecifiedMatching -DOID:0081109 keratosis palmoplantaris striata 2 oboInOwl:hasDbXref OMIM:612908 semapv:UnspecifiedMatching -DOID:0081109 keratosis palmoplantaris striata 2 skos:exactMatch OMIM:612908 semapv:UnspecifiedMatching DOID:0081110 keratosis palmoplantaris striata 3 oboInOwl:hasDbXref MESH:C536163 semapv:UnspecifiedMatching -DOID:0081110 keratosis palmoplantaris striata 3 oboInOwl:hasDbXref OMIM:607654 semapv:UnspecifiedMatching -DOID:0081110 keratosis palmoplantaris striata 3 skos:exactMatch OMIM:607654 semapv:UnspecifiedMatching -DOID:0081111 osteosclerotic metaphyseal dysplasia oboInOwl:hasDbXref OMIM:615198 semapv:UnspecifiedMatching DOID:0081111 osteosclerotic metaphyseal dysplasia oboInOwl:hasDbXref ORDO:500548 semapv:UnspecifiedMatching -DOID:0081111 osteosclerotic metaphyseal dysplasia skos:exactMatch OMIM:615198 semapv:UnspecifiedMatching -DOID:0081112 Baraitser-Winter syndrome 1 oboInOwl:hasDbXref OMIM:243310 semapv:UnspecifiedMatching -DOID:0081112 Baraitser-Winter syndrome 1 skos:exactMatch OMIM:243310 semapv:UnspecifiedMatching -DOID:0081113 Baraitser-Winter syndrome 2 oboInOwl:hasDbXref OMIM:614583 semapv:UnspecifiedMatching -DOID:0081113 Baraitser-Winter syndrome 2 skos:exactMatch OMIM:614583 semapv:UnspecifiedMatching -DOID:0081114 benign familial infantile seizures 1 oboInOwl:hasDbXref OMIM:601764 semapv:UnspecifiedMatching -DOID:0081114 benign familial infantile seizures 1 skos:exactMatch OMIM:601764 semapv:UnspecifiedMatching -DOID:0081115 benign familial infantile seizures 2 oboInOwl:hasDbXref OMIM:605751 semapv:UnspecifiedMatching -DOID:0081115 benign familial infantile seizures 2 skos:exactMatch OMIM:605751 semapv:UnspecifiedMatching -DOID:0081116 benign familial infantile seizures 3 oboInOwl:hasDbXref OMIM:607745 semapv:UnspecifiedMatching -DOID:0081116 benign familial infantile seizures 3 skos:exactMatch OMIM:607745 semapv:UnspecifiedMatching -DOID:0081117 benign familial infantile seizures 4 oboInOwl:hasDbXref OMIM:612627 semapv:UnspecifiedMatching -DOID:0081117 benign familial infantile seizures 4 skos:exactMatch OMIM:612627 semapv:UnspecifiedMatching -DOID:0081118 benign familial infantile seizures 5 oboInOwl:hasDbXref OMIM:617080 semapv:UnspecifiedMatching -DOID:0081118 benign familial infantile seizures 5 skos:exactMatch OMIM:617080 semapv:UnspecifiedMatching -DOID:0081119 benign familial infantile seizures 6 oboInOwl:hasDbXref OMIM:610353 semapv:UnspecifiedMatching -DOID:0081119 benign familial infantile seizures 6 skos:exactMatch OMIM:610353 semapv:UnspecifiedMatching DOID:0081120 Graves ophthalmopathy oboInOwl:hasDbXref MESH:D049970 semapv:UnspecifiedMatching -DOID:0081121 inclusion body myopathy and brain white matter abnormalities oboInOwl:hasDbXref OMIM:619733 semapv:UnspecifiedMatching -DOID:0081121 inclusion body myopathy and brain white matter abnormalities skos:exactMatch OMIM:619733 semapv:UnspecifiedMatching DOID:0081122 Catel Manzke syndrome oboInOwl:hasDbXref GARD:28 semapv:UnspecifiedMatching DOID:0081122 Catel Manzke syndrome oboInOwl:hasDbXref MESH:C535347 semapv:UnspecifiedMatching -DOID:0081122 Catel Manzke syndrome oboInOwl:hasDbXref OMIM:616145 semapv:UnspecifiedMatching DOID:0081122 Catel Manzke syndrome oboInOwl:hasDbXref ORDO:1388 semapv:UnspecifiedMatching -DOID:0081122 Catel Manzke syndrome skos:exactMatch OMIM:616145 semapv:UnspecifiedMatching DOID:0081123 X-linked mental retardation Gustavson type oboInOwl:hasDbXref GARD:5611 semapv:UnspecifiedMatching -DOID:0081123 X-linked mental retardation Gustavson type oboInOwl:hasDbXref OMIM:309555 semapv:UnspecifiedMatching DOID:0081123 X-linked mental retardation Gustavson type oboInOwl:hasDbXref ORDO:3078 semapv:UnspecifiedMatching -DOID:0081123 X-linked mental retardation Gustavson type skos:exactMatch OMIM:309555 semapv:UnspecifiedMatching -DOID:0081124 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 oboInOwl:hasDbXref OMIM:213980 semapv:UnspecifiedMatching -DOID:0081124 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 skos:exactMatch OMIM:213980 semapv:UnspecifiedMatching -DOID:0081125 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 oboInOwl:hasDbXref OMIM:616994 semapv:UnspecifiedMatching -DOID:0081125 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 skos:exactMatch OMIM:616994 semapv:UnspecifiedMatching -DOID:0081126 DeSanto-Shinawi syndrome oboInOwl:hasDbXref OMIM:616708 semapv:UnspecifiedMatching DOID:0081126 DeSanto-Shinawi syndrome oboInOwl:hasDbXref ORDO:284169 semapv:UnspecifiedMatching DOID:0081126 DeSanto-Shinawi syndrome oboInOwl:hasDbXref ORDO:466943 semapv:UnspecifiedMatching DOID:0081126 DeSanto-Shinawi syndrome oboInOwl:hasDbXref ORDO:466950 semapv:UnspecifiedMatching -DOID:0081126 DeSanto-Shinawi syndrome skos:exactMatch OMIM:616708 semapv:UnspecifiedMatching DOID:0081127 mandibuloacral dysplasia oboInOwl:hasDbXref GARD:11893 semapv:UnspecifiedMatching -DOID:0081127 mandibuloacral dysplasia oboInOwl:hasDbXref OMIMPS:248370 semapv:UnspecifiedMatching DOID:0081127 mandibuloacral dysplasia oboInOwl:hasDbXref ORDO:2457 semapv:UnspecifiedMatching -DOID:0081127 mandibuloacral dysplasia skos:exactMatch OMIMPS:248370 semapv:UnspecifiedMatching DOID:0081128 mandibuloacral dysplasia type A lipodystrophy oboInOwl:hasDbXref GARD:3374 semapv:UnspecifiedMatching -DOID:0081128 mandibuloacral dysplasia type A lipodystrophy oboInOwl:hasDbXref OMIM:248370 semapv:UnspecifiedMatching DOID:0081128 mandibuloacral dysplasia type A lipodystrophy oboInOwl:hasDbXref ORDO:90153 semapv:UnspecifiedMatching -DOID:0081128 mandibuloacral dysplasia type A lipodystrophy skos:exactMatch OMIM:248370 semapv:UnspecifiedMatching -DOID:0081129 mandibuloacral dysplasia type B lipodystrophy oboInOwl:hasDbXref OMIM:608612 semapv:UnspecifiedMatching -DOID:0081129 mandibuloacral dysplasia type B lipodystrophy skos:exactMatch OMIM:608612 semapv:UnspecifiedMatching -DOID:0081130 BH4-deficient hyperphenylalaninemia C oboInOwl:hasDbXref OMIM:261630 semapv:UnspecifiedMatching -DOID:0081130 BH4-deficient hyperphenylalaninemia C skos:exactMatch OMIM:261630 semapv:UnspecifiedMatching DOID:0081131 BH4-deficient hyperphenylalaninemia D oboInOwl:hasDbXref GARD:2843 semapv:UnspecifiedMatching -DOID:0081131 BH4-deficient hyperphenylalaninemia D oboInOwl:hasDbXref OMIM:264070 semapv:UnspecifiedMatching DOID:0081131 BH4-deficient hyperphenylalaninemia D oboInOwl:hasDbXref ORDO:1578 semapv:UnspecifiedMatching -DOID:0081131 BH4-deficient hyperphenylalaninemia D skos:exactMatch OMIM:264070 semapv:UnspecifiedMatching DOID:0081132 tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia oboInOwl:hasDbXref GARD:7751 semapv:UnspecifiedMatching DOID:0081132 tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia oboInOwl:hasDbXref ORDO:238583 semapv:UnspecifiedMatching -DOID:0081133 3-methylglutaconic aciduria type 7a oboInOwl:hasDbXref OMIM:619835 semapv:UnspecifiedMatching -DOID:0081133 3-methylglutaconic aciduria type 7a skos:exactMatch OMIM:619835 semapv:UnspecifiedMatching -DOID:0081134 3-methylglutaconic aciduria type 7b oboInOwl:hasDbXref OMIM:616271 semapv:UnspecifiedMatching -DOID:0081134 3-methylglutaconic aciduria type 7b skos:exactMatch OMIM:616271 semapv:UnspecifiedMatching -DOID:0081135 agammaglobulinemia 2 oboInOwl:hasDbXref OMIM:613500 semapv:UnspecifiedMatching -DOID:0081135 agammaglobulinemia 2 skos:exactMatch OMIM:613500 semapv:UnspecifiedMatching -DOID:0081136 agammaglobulinemia 1 oboInOwl:hasDbXref OMIM:601495 semapv:UnspecifiedMatching -DOID:0081136 agammaglobulinemia 1 skos:exactMatch OMIM:601495 semapv:UnspecifiedMatching -DOID:0081137 agammaglobulinemia 3 oboInOwl:hasDbXref OMIM:613501 semapv:UnspecifiedMatching -DOID:0081137 agammaglobulinemia 3 skos:exactMatch OMIM:613501 semapv:UnspecifiedMatching -DOID:0081138 agammaglobulinemia 6 oboInOwl:hasDbXref OMIM:612692 semapv:UnspecifiedMatching -DOID:0081138 agammaglobulinemia 6 skos:exactMatch OMIM:612692 semapv:UnspecifiedMatching -DOID:0081139 agammaglobulinemia 7 oboInOwl:hasDbXref OMIM:615214 semapv:UnspecifiedMatching -DOID:0081139 agammaglobulinemia 7 skos:exactMatch OMIM:615214 semapv:UnspecifiedMatching -DOID:0081140 agammaglobulinemia 8A oboInOwl:hasDbXref OMIM:616941 semapv:UnspecifiedMatching -DOID:0081140 agammaglobulinemia 8A skos:exactMatch OMIM:616941 semapv:UnspecifiedMatching -DOID:0081141 agammaglobulinemia 9 oboInOwl:hasDbXref OMIM:619693 semapv:UnspecifiedMatching -DOID:0081141 agammaglobulinemia 9 skos:exactMatch OMIM:619693 semapv:UnspecifiedMatching -DOID:0081142 agammaglobulinemia 10 oboInOwl:hasDbXref OMIM:619707 semapv:UnspecifiedMatching -DOID:0081142 agammaglobulinemia 10 skos:exactMatch OMIM:619707 semapv:UnspecifiedMatching -DOID:0081143 agammaglobulinemia 8B oboInOwl:hasDbXref OMIM:619824 semapv:UnspecifiedMatching -DOID:0081143 agammaglobulinemia 8B skos:exactMatch OMIM:619824 semapv:UnspecifiedMatching -DOID:0081144 common variable immunodeficiency 1 oboInOwl:hasDbXref OMIM:607594 semapv:UnspecifiedMatching -DOID:0081144 common variable immunodeficiency 1 skos:exactMatch OMIM:607594 semapv:UnspecifiedMatching -DOID:0081145 common variable immunodeficiency 2 oboInOwl:hasDbXref OMIM:240500 semapv:UnspecifiedMatching -DOID:0081145 common variable immunodeficiency 2 skos:exactMatch OMIM:240500 semapv:UnspecifiedMatching -DOID:0081146 common variable immunodeficiency 3 oboInOwl:hasDbXref OMIM:613493 semapv:UnspecifiedMatching -DOID:0081146 common variable immunodeficiency 3 skos:exactMatch OMIM:613493 semapv:UnspecifiedMatching -DOID:0081147 common variable immunodeficiency 4 oboInOwl:hasDbXref OMIM:613494 semapv:UnspecifiedMatching -DOID:0081147 common variable immunodeficiency 4 skos:exactMatch OMIM:613494 semapv:UnspecifiedMatching -DOID:0081148 common variable immunodeficiency 5 oboInOwl:hasDbXref OMIM:613495 semapv:UnspecifiedMatching -DOID:0081148 common variable immunodeficiency 5 skos:exactMatch OMIM:613495 semapv:UnspecifiedMatching -DOID:0081149 common variable immunodeficiency 6 oboInOwl:hasDbXref OMIM:613496 semapv:UnspecifiedMatching -DOID:0081149 common variable immunodeficiency 6 skos:exactMatch OMIM:613496 semapv:UnspecifiedMatching -DOID:0081150 common variable immunodeficiency 7 oboInOwl:hasDbXref OMIM:614699 semapv:UnspecifiedMatching -DOID:0081150 common variable immunodeficiency 7 skos:exactMatch OMIM:614699 semapv:UnspecifiedMatching -DOID:0081151 common variable immunodeficiency 8 oboInOwl:hasDbXref OMIM:614700 semapv:UnspecifiedMatching -DOID:0081151 common variable immunodeficiency 8 skos:exactMatch OMIM:614700 semapv:UnspecifiedMatching -DOID:0081152 common variable immunodeficiency 10 oboInOwl:hasDbXref OMIM:615577 semapv:UnspecifiedMatching -DOID:0081152 common variable immunodeficiency 10 skos:exactMatch OMIM:615577 semapv:UnspecifiedMatching -DOID:0081153 common variable immunodeficiency 11 oboInOwl:hasDbXref OMIM:615767 semapv:UnspecifiedMatching -DOID:0081153 common variable immunodeficiency 11 skos:exactMatch OMIM:615767 semapv:UnspecifiedMatching -DOID:0081154 common variable immunodeficiency 12 oboInOwl:hasDbXref OMIM:616576 semapv:UnspecifiedMatching -DOID:0081154 common variable immunodeficiency 12 skos:exactMatch OMIM:616576 semapv:UnspecifiedMatching -DOID:0081155 common variable immunodeficiency 13 oboInOwl:hasDbXref OMIM:616873 semapv:UnspecifiedMatching -DOID:0081155 common variable immunodeficiency 13 skos:exactMatch OMIM:616873 semapv:UnspecifiedMatching -DOID:0081156 common variable immunodeficiency 14 oboInOwl:hasDbXref OMIM:617765 semapv:UnspecifiedMatching -DOID:0081156 common variable immunodeficiency 14 skos:exactMatch OMIM:617765 semapv:UnspecifiedMatching -DOID:0081157 dilated cardiomyopathy 1LL oboInOwl:hasDbXref OMIM:615373 semapv:UnspecifiedMatching -DOID:0081157 dilated cardiomyopathy 1LL skos:exactMatch OMIM:615373 semapv:UnspecifiedMatching -DOID:0081158 dilated cardiomyopathy 1MM oboInOwl:hasDbXref OMIM:615396 semapv:UnspecifiedMatching -DOID:0081158 dilated cardiomyopathy 1MM skos:exactMatch OMIM:615396 semapv:UnspecifiedMatching -DOID:0081159 dilated cardiomyopathy 2C oboInOwl:hasDbXref OMIM:618189 semapv:UnspecifiedMatching -DOID:0081159 dilated cardiomyopathy 2C skos:exactMatch OMIM:618189 semapv:UnspecifiedMatching -DOID:0081160 dilated cardiomyopathy 2D oboInOwl:hasDbXref OMIM:619371 semapv:UnspecifiedMatching -DOID:0081160 dilated cardiomyopathy 2D skos:exactMatch OMIM:619371 semapv:UnspecifiedMatching -DOID:0081161 dilated cardiomyopathy 2E oboInOwl:hasDbXref OMIM:619492 semapv:UnspecifiedMatching -DOID:0081161 dilated cardiomyopathy 2E skos:exactMatch OMIM:619492 semapv:UnspecifiedMatching -DOID:0081162 dilated cardiomyopathy 2F oboInOwl:hasDbXref OMIM:619747 semapv:UnspecifiedMatching -DOID:0081162 dilated cardiomyopathy 2F skos:exactMatch OMIM:619747 semapv:UnspecifiedMatching -DOID:0081163 dilated cardiomyopathy 2G oboInOwl:hasDbXref OMIM:619897 semapv:UnspecifiedMatching -DOID:0081163 dilated cardiomyopathy 2G skos:exactMatch OMIM:619897 semapv:UnspecifiedMatching -DOID:0081164 dilated cardiomyopathy 3B oboInOwl:hasDbXref OMIM:302045 semapv:UnspecifiedMatching -DOID:0081164 dilated cardiomyopathy 3B skos:exactMatch OMIM:302045 semapv:UnspecifiedMatching DOID:0081168 HMG-CoA synthase 2 deficiency oboInOwl:hasDbXref GARD:2712 semapv:UnspecifiedMatching -DOID:0081168 HMG-CoA synthase 2 deficiency oboInOwl:hasDbXref OMIM:605911 semapv:UnspecifiedMatching DOID:0081168 HMG-CoA synthase 2 deficiency oboInOwl:hasDbXref ORDO:35701 semapv:UnspecifiedMatching -DOID:0081168 HMG-CoA synthase 2 deficiency skos:exactMatch OMIM:605911 semapv:UnspecifiedMatching -DOID:0081169 Leber congenital amaurosis 19 oboInOwl:hasDbXref OMIM:618513 semapv:UnspecifiedMatching -DOID:0081169 Leber congenital amaurosis 19 skos:exactMatch OMIM:618513 semapv:UnspecifiedMatching -DOID:0081169 Leber congenital amaurosis 19 skos:exactMatch OMIM:618513 semapv:UnspecifiedMatching -DOID:0081175 short stature, hearing loss, retinitis pigmentosa, and distinctive facies oboInOwl:hasDbXref OMIM:617763 semapv:UnspecifiedMatching DOID:0081175 short stature, hearing loss, retinitis pigmentosa, and distinctive facies oboInOwl:hasDbXref ORDO:494439 semapv:UnspecifiedMatching -DOID:0081175 short stature, hearing loss, retinitis pigmentosa, and distinctive facies skos:exactMatch OMIM:617763 semapv:UnspecifiedMatching -DOID:0081176 hypotonia, ataxia, and delayed development syndrome oboInOwl:hasDbXref OMIM:617330 semapv:UnspecifiedMatching -DOID:0081176 hypotonia, ataxia, and delayed development syndrome skos:exactMatch OMIM:617330 semapv:UnspecifiedMatching -DOID:0081177 autosomal recessive intellectual developmental disorder 1 oboInOwl:hasDbXref OMIM:249500 semapv:UnspecifiedMatching -DOID:0081177 autosomal recessive intellectual developmental disorder 1 skos:exactMatch OMIM:249500 semapv:UnspecifiedMatching -DOID:0081178 autosomal recessive intellectual developmental disorder 2 oboInOwl:hasDbXref OMIM:607417 semapv:UnspecifiedMatching -DOID:0081178 autosomal recessive intellectual developmental disorder 2 skos:exactMatch OMIM:607417 semapv:UnspecifiedMatching -DOID:0081179 autosomal recessive intellectual developmental disorder 3 oboInOwl:hasDbXref OMIM:608443 semapv:UnspecifiedMatching -DOID:0081179 autosomal recessive intellectual developmental disorder 3 skos:exactMatch OMIM:608443 semapv:UnspecifiedMatching -DOID:0081180 autosomal recessive intellectual developmental disorder 12 oboInOwl:hasDbXref OMIM:611090 semapv:UnspecifiedMatching -DOID:0081180 autosomal recessive intellectual developmental disorder 12 skos:exactMatch OMIM:611090 semapv:UnspecifiedMatching -DOID:0081181 autosomal recessive intellectual developmental disorder 5 oboInOwl:hasDbXref OMIM:611091 semapv:UnspecifiedMatching -DOID:0081181 autosomal recessive intellectual developmental disorder 5 skos:exactMatch OMIM:611091 semapv:UnspecifiedMatching -DOID:0081182 autosomal recessive intellectual developmental disorder 6 oboInOwl:hasDbXref OMIM:611092 semapv:UnspecifiedMatching -DOID:0081182 autosomal recessive intellectual developmental disorder 6 skos:exactMatch OMIM:611092 semapv:UnspecifiedMatching -DOID:0081183 autosomal recessive intellectual developmental disorder 7 oboInOwl:hasDbXref OMIM:611093 semapv:UnspecifiedMatching -DOID:0081183 autosomal recessive intellectual developmental disorder 7 skos:exactMatch OMIM:611093 semapv:UnspecifiedMatching -DOID:0081184 autosomal recessive intellectual developmental disorder 9/26 oboInOwl:hasDbXref OMIM:611095 semapv:UnspecifiedMatching -DOID:0081184 autosomal recessive intellectual developmental disorder 9/26 skos:exactMatch OMIM:611095 semapv:UnspecifiedMatching -DOID:0081185 autosomal recessive intellectual developmental disorder 10/20 oboInOwl:hasDbXref OMIM:611096 semapv:UnspecifiedMatching -DOID:0081185 autosomal recessive intellectual developmental disorder 10/20 skos:exactMatch OMIM:611096 semapv:UnspecifiedMatching -DOID:0081186 autosomal recessive intellectual developmental disorder 11 oboInOwl:hasDbXref OMIM:611097 semapv:UnspecifiedMatching -DOID:0081186 autosomal recessive intellectual developmental disorder 11 skos:exactMatch OMIM:611097 semapv:UnspecifiedMatching -DOID:0081187 autosomal recessive intellectual developmental disorder 4 oboInOwl:hasDbXref OMIM:611107 semapv:UnspecifiedMatching -DOID:0081187 autosomal recessive intellectual developmental disorder 4 skos:exactMatch OMIM:611107 semapv:UnspecifiedMatching -DOID:0081188 autosomal recessive intellectual developmental disorder 14 oboInOwl:hasDbXref OMIM:614020 semapv:UnspecifiedMatching -DOID:0081188 autosomal recessive intellectual developmental disorder 14 skos:exactMatch OMIM:614020 semapv:UnspecifiedMatching -DOID:0081189 autosomal recessive intellectual developmental disorder 16 oboInOwl:hasDbXref OMIM:614208 semapv:UnspecifiedMatching -DOID:0081189 autosomal recessive intellectual developmental disorder 16 skos:exactMatch OMIM:614208 semapv:UnspecifiedMatching -DOID:0081190 autosomal recessive intellectual developmental disorder 18 oboInOwl:hasDbXref OMIM:614249 semapv:UnspecifiedMatching -DOID:0081190 autosomal recessive intellectual developmental disorder 18 skos:exactMatch OMIM:614249 semapv:UnspecifiedMatching -DOID:0081191 autosomal recessive intellectual developmental disorder 31 oboInOwl:hasDbXref OMIM:614329 semapv:UnspecifiedMatching -DOID:0081191 autosomal recessive intellectual developmental disorder 31 skos:exactMatch OMIM:614329 semapv:UnspecifiedMatching -DOID:0081192 autosomal recessive intellectual developmental disorder 29 oboInOwl:hasDbXref OMIM:614333 semapv:UnspecifiedMatching -DOID:0081192 autosomal recessive intellectual developmental disorder 29 skos:exactMatch OMIM:614333 semapv:UnspecifiedMatching -DOID:0081193 autosomal recessive intellectual developmental disorder 27 oboInOwl:hasDbXref OMIM:614340 semapv:UnspecifiedMatching -DOID:0081193 autosomal recessive intellectual developmental disorder 27 skos:exactMatch OMIM:614340 semapv:UnspecifiedMatching -DOID:0081194 autosomal recessive intellectual developmental disorder 33 oboInOwl:hasDbXref OMIM:614341 semapv:UnspecifiedMatching -DOID:0081194 autosomal recessive intellectual developmental disorder 33 skos:exactMatch OMIM:614341 semapv:UnspecifiedMatching -DOID:0081195 autosomal recessive intellectual developmental disorder 30 oboInOwl:hasDbXref OMIM:614342 semapv:UnspecifiedMatching -DOID:0081195 autosomal recessive intellectual developmental disorder 30 skos:exactMatch OMIM:614342 semapv:UnspecifiedMatching -DOID:0081196 autosomal recessive intellectual developmental disorder 23 oboInOwl:hasDbXref OMIM:614344 semapv:UnspecifiedMatching -DOID:0081196 autosomal recessive intellectual developmental disorder 23 skos:exactMatch OMIM:614344 semapv:UnspecifiedMatching -DOID:0081197 autosomal recessive intellectual developmental disorder 24 oboInOwl:hasDbXref OMIM:614345 semapv:UnspecifiedMatching -DOID:0081197 autosomal recessive intellectual developmental disorder 24 skos:exactMatch OMIM:614345 semapv:UnspecifiedMatching -DOID:0081198 autosomal recessive intellectual developmental disorder 25 oboInOwl:hasDbXref OMIM:614346 semapv:UnspecifiedMatching -DOID:0081198 autosomal recessive intellectual developmental disorder 25 skos:exactMatch OMIM:614346 semapv:UnspecifiedMatching -DOID:0081199 autosomal recessive intellectual developmental disorder 28 oboInOwl:hasDbXref OMIM:614347 semapv:UnspecifiedMatching -DOID:0081199 autosomal recessive intellectual developmental disorder 28 skos:exactMatch OMIM:614347 semapv:UnspecifiedMatching -DOID:0081200 autosomal recessive intellectual developmental disorder 34 oboInOwl:hasDbXref OMIM:614499 semapv:UnspecifiedMatching -DOID:0081200 autosomal recessive intellectual developmental disorder 34 skos:exactMatch OMIM:614499 semapv:UnspecifiedMatching -DOID:0081201 autosomal recessive intellectual developmental disorder 35 oboInOwl:hasDbXref OMIM:615162 semapv:UnspecifiedMatching -DOID:0081201 autosomal recessive intellectual developmental disorder 35 skos:exactMatch OMIM:615162 semapv:UnspecifiedMatching -DOID:0081202 autosomal recessive intellectual developmental disorder 37 oboInOwl:hasDbXref OMIM:615493 semapv:UnspecifiedMatching -DOID:0081202 autosomal recessive intellectual developmental disorder 37 skos:exactMatch OMIM:615493 semapv:UnspecifiedMatching -DOID:0081203 autosomal recessive intellectual developmental disorder 38 oboInOwl:hasDbXref OMIM:615516 semapv:UnspecifiedMatching -DOID:0081203 autosomal recessive intellectual developmental disorder 38 skos:exactMatch OMIM:615516 semapv:UnspecifiedMatching -DOID:0081204 autosomal recessive intellectual developmental disorder 39 oboInOwl:hasDbXref OMIM:615541 semapv:UnspecifiedMatching -DOID:0081204 autosomal recessive intellectual developmental disorder 39 skos:exactMatch OMIM:615541 semapv:UnspecifiedMatching -DOID:0081205 autosomal recessive intellectual developmental disorder 40 oboInOwl:hasDbXref OMIM:615599 semapv:UnspecifiedMatching -DOID:0081205 autosomal recessive intellectual developmental disorder 40 skos:exactMatch OMIM:615599 semapv:UnspecifiedMatching -DOID:0081206 autosomal recessive intellectual developmental disorder 41 oboInOwl:hasDbXref OMIM:615637 semapv:UnspecifiedMatching -DOID:0081206 autosomal recessive intellectual developmental disorder 41 skos:exactMatch OMIM:615637 semapv:UnspecifiedMatching -DOID:0081207 autosomal recessive intellectual developmental disorder 43 oboInOwl:hasDbXref OMIM:615817 semapv:UnspecifiedMatching -DOID:0081207 autosomal recessive intellectual developmental disorder 43 skos:exactMatch OMIM:615817 semapv:UnspecifiedMatching -DOID:0081208 autosomal recessive intellectual developmental disorder 44 oboInOwl:hasDbXref OMIM:615942 semapv:UnspecifiedMatching -DOID:0081208 autosomal recessive intellectual developmental disorder 44 skos:exactMatch OMIM:615942 semapv:UnspecifiedMatching -DOID:0081209 autosomal recessive intellectual developmental disorder 45 oboInOwl:hasDbXref OMIM:615979 semapv:UnspecifiedMatching -DOID:0081209 autosomal recessive intellectual developmental disorder 45 skos:exactMatch OMIM:615979 semapv:UnspecifiedMatching -DOID:0081210 autosomal recessive intellectual developmental disorder 46 oboInOwl:hasDbXref OMIM:616116 semapv:UnspecifiedMatching -DOID:0081210 autosomal recessive intellectual developmental disorder 46 skos:exactMatch OMIM:616116 semapv:UnspecifiedMatching -DOID:0081211 autosomal recessive intellectual developmental disorder 47 oboInOwl:hasDbXref OMIM:616193 semapv:UnspecifiedMatching -DOID:0081211 autosomal recessive intellectual developmental disorder 47 skos:exactMatch OMIM:616193 semapv:UnspecifiedMatching -DOID:0081212 autosomal recessive intellectual developmental disorder 48 oboInOwl:hasDbXref OMIM:616269 semapv:UnspecifiedMatching -DOID:0081212 autosomal recessive intellectual developmental disorder 48 skos:exactMatch OMIM:616269 semapv:UnspecifiedMatching -DOID:0081213 autosomal recessive intellectual developmental disorder 50 oboInOwl:hasDbXref OMIM:616460 semapv:UnspecifiedMatching -DOID:0081213 autosomal recessive intellectual developmental disorder 50 skos:exactMatch OMIM:616460 semapv:UnspecifiedMatching -DOID:0081214 autosomal recessive intellectual developmental disorder 51 oboInOwl:hasDbXref OMIM:616739 semapv:UnspecifiedMatching -DOID:0081214 autosomal recessive intellectual developmental disorder 51 skos:exactMatch OMIM:616739 semapv:UnspecifiedMatching -DOID:0081215 autosomal recessive intellectual developmental disorder 52 oboInOwl:hasDbXref OMIM:616887 semapv:UnspecifiedMatching -DOID:0081215 autosomal recessive intellectual developmental disorder 52 skos:exactMatch OMIM:616887 semapv:UnspecifiedMatching -DOID:0081216 autosomal recessive intellectual developmental disorder 54 oboInOwl:hasDbXref OMIM:617028 semapv:UnspecifiedMatching -DOID:0081216 autosomal recessive intellectual developmental disorder 54 skos:exactMatch OMIM:617028 semapv:UnspecifiedMatching -DOID:0081217 autosomal recessive intellectual developmental disorder 56 oboInOwl:hasDbXref OMIM:617125 semapv:UnspecifiedMatching -DOID:0081217 autosomal recessive intellectual developmental disorder 56 skos:exactMatch OMIM:617125 semapv:UnspecifiedMatching -DOID:0081218 autosomal recessive intellectual developmental disorder 74 oboInOwl:hasDbXref OMIM:617169 semapv:UnspecifiedMatching -DOID:0081218 autosomal recessive intellectual developmental disorder 74 skos:exactMatch OMIM:617169 semapv:UnspecifiedMatching -DOID:0081219 autosomal recessive intellectual developmental disorder 57 oboInOwl:hasDbXref OMIM:617188 semapv:UnspecifiedMatching -DOID:0081219 autosomal recessive intellectual developmental disorder 57 skos:exactMatch OMIM:617188 semapv:UnspecifiedMatching -DOID:0081220 autosomal recessive intellectual developmental disorder 58 oboInOwl:hasDbXref OMIM:617270 semapv:UnspecifiedMatching -DOID:0081220 autosomal recessive intellectual developmental disorder 58 skos:exactMatch OMIM:617270 semapv:UnspecifiedMatching -DOID:0081221 autosomal recessive intellectual developmental disorder 59 oboInOwl:hasDbXref OMIM:617323 semapv:UnspecifiedMatching -DOID:0081221 autosomal recessive intellectual developmental disorder 59 skos:exactMatch OMIM:617323 semapv:UnspecifiedMatching -DOID:0081222 autosomal recessive intellectual developmental disorder 60 oboInOwl:hasDbXref OMIM:617432 semapv:UnspecifiedMatching -DOID:0081222 autosomal recessive intellectual developmental disorder 60 skos:exactMatch OMIM:617432 semapv:UnspecifiedMatching -DOID:0081223 glycosylphosphatidylinositol biosynthesis defect 16 oboInOwl:hasDbXref OMIM:617816 semapv:UnspecifiedMatching -DOID:0081223 glycosylphosphatidylinositol biosynthesis defect 16 skos:exactMatch OMIM:617816 semapv:UnspecifiedMatching -DOID:0081224 autosomal recessive intellectual developmental disorder 63 oboInOwl:hasDbXref OMIM:618095 semapv:UnspecifiedMatching -DOID:0081224 autosomal recessive intellectual developmental disorder 63 skos:exactMatch OMIM:618095 semapv:UnspecifiedMatching -DOID:0081225 autosomal recessive intellectual developmental disorder 64 oboInOwl:hasDbXref OMIM:618103 semapv:UnspecifiedMatching -DOID:0081225 autosomal recessive intellectual developmental disorder 64 skos:exactMatch OMIM:618103 semapv:UnspecifiedMatching -DOID:0081226 autosomal recessive intellectual developmental disorder 65 oboInOwl:hasDbXref OMIM:618109 semapv:UnspecifiedMatching -DOID:0081226 autosomal recessive intellectual developmental disorder 65 skos:exactMatch OMIM:618109 semapv:UnspecifiedMatching -DOID:0081227 autosomal recessive intellectual developmental disorder 66 oboInOwl:hasDbXref OMIM:618221 semapv:UnspecifiedMatching -DOID:0081227 autosomal recessive intellectual developmental disorder 66 skos:exactMatch OMIM:618221 semapv:UnspecifiedMatching -DOID:0081228 autosomal recessive intellectual developmental disorder 67 oboInOwl:hasDbXref OMIM:618295 semapv:UnspecifiedMatching -DOID:0081228 autosomal recessive intellectual developmental disorder 67 skos:exactMatch OMIM:618295 semapv:UnspecifiedMatching -DOID:0081229 autosomal recessive intellectual developmental disorder 68 oboInOwl:hasDbXref OMIM:618302 semapv:UnspecifiedMatching -DOID:0081229 autosomal recessive intellectual developmental disorder 68 skos:exactMatch OMIM:618302 semapv:UnspecifiedMatching -DOID:0081230 autosomal recessive intellectual developmental disorder 69 oboInOwl:hasDbXref OMIM:618383 semapv:UnspecifiedMatching -DOID:0081230 autosomal recessive intellectual developmental disorder 69 skos:exactMatch OMIM:618383 semapv:UnspecifiedMatching -DOID:0081231 autosomal recessive intellectual developmental disorder 70 oboInOwl:hasDbXref OMIM:618402 semapv:UnspecifiedMatching -DOID:0081231 autosomal recessive intellectual developmental disorder 70 skos:exactMatch OMIM:618402 semapv:UnspecifiedMatching -DOID:0081232 autosomal recessive intellectual developmental disorder 71 oboInOwl:hasDbXref OMIM:618504 semapv:UnspecifiedMatching -DOID:0081232 autosomal recessive intellectual developmental disorder 71 skos:exactMatch OMIM:618504 semapv:UnspecifiedMatching -DOID:0081233 autosomal recessive intellectual developmental disorder 73 oboInOwl:hasDbXref OMIM:619717 semapv:UnspecifiedMatching -DOID:0081233 autosomal recessive intellectual developmental disorder 73 skos:exactMatch OMIM:619717 semapv:UnspecifiedMatching -DOID:0081234 autosomal recessive intellectual developmental disorder 75 oboInOwl:hasDbXref OMIM:619827 semapv:UnspecifiedMatching -DOID:0081234 autosomal recessive intellectual developmental disorder 75 skos:exactMatch OMIM:619827 semapv:UnspecifiedMatching -DOID:0081235 autosomal recessive intellectual developmental disorder 76 oboInOwl:hasDbXref OMIM:619931 semapv:UnspecifiedMatching -DOID:0081235 autosomal recessive intellectual developmental disorder 76 skos:exactMatch OMIM:619931 semapv:UnspecifiedMatching -DOID:0081236 autosomal recessive intellectual developmental disorder 77 oboInOwl:hasDbXref OMIM:619988 semapv:UnspecifiedMatching -DOID:0081236 autosomal recessive intellectual developmental disorder 77 skos:exactMatch OMIM:619988 semapv:UnspecifiedMatching -DOID:0081237 acromesomelic dysplasia-3 oboInOwl:hasDbXref OMIM:609441 semapv:UnspecifiedMatching -DOID:0081237 acromesomelic dysplasia-3 skos:exactMatch OMIM:609441 semapv:UnspecifiedMatching -DOID:0081238 acromesomelic dysplasia-4 oboInOwl:hasDbXref OMIM:619636 semapv:UnspecifiedMatching -DOID:0081238 acromesomelic dysplasia-4 skos:exactMatch OMIM:619636 semapv:UnspecifiedMatching -DOID:0081240 peroxisome biogenesis disorder 1B oboInOwl:hasDbXref OMIM:601539 semapv:UnspecifiedMatching -DOID:0081240 peroxisome biogenesis disorder 1B skos:exactMatch OMIM:601539 semapv:UnspecifiedMatching -DOID:0081241 peroxisome biogenesis disorder 3B oboInOwl:hasDbXref OMIM:266510 semapv:UnspecifiedMatching -DOID:0081241 peroxisome biogenesis disorder 3B skos:exactMatch OMIM:266510 semapv:UnspecifiedMatching -DOID:0081242 autoimmune interstitial lung, joint, and kidney disease oboInOwl:hasDbXref OMIM:616414 semapv:UnspecifiedMatching DOID:0081242 autoimmune interstitial lung, joint, and kidney disease oboInOwl:hasDbXref ORDO:444092 semapv:UnspecifiedMatching -DOID:0081242 autoimmune interstitial lung, joint, and kidney disease skos:exactMatch OMIM:616414 semapv:UnspecifiedMatching -DOID:0081243 rhizomelic chondrodysplasia punctate type 4 oboInOwl:hasDbXref OMIM:616154 semapv:UnspecifiedMatching DOID:0081243 rhizomelic chondrodysplasia punctate type 4 oboInOwl:hasDbXref ORDO:438178 semapv:UnspecifiedMatching -DOID:0081243 rhizomelic chondrodysplasia punctate type 4 skos:exactMatch OMIM:616154 semapv:UnspecifiedMatching DOID:0081244 pituitary blastoma oboInOwl:hasDbXref ICDO:8273/3 semapv:UnspecifiedMatching DOID:0081244 pituitary blastoma oboInOwl:hasDbXref NCI:C155304 semapv:UnspecifiedMatching DOID:0081245 cauda equina neuroendocrine tumor oboInOwl:hasDbXref ICDO:8693/3 semapv:UnspecifiedMatching @@ -9039,37 +4375,9 @@ DOID:0081260 diffuse low-grade glioma, MAPK pathway–altered oboInOwl:hasDbXref DOID:0081261 angiocentric glioma oboInOwl:hasDbXref ICDO:9431/1 semapv:UnspecifiedMatching DOID:0081261 angiocentric glioma oboInOwl:hasDbXref NCI:C92552 semapv:UnspecifiedMatching DOID:0081262 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies oboInOwl:hasDbXref KEGG:H02463 semapv:UnspecifiedMatching -DOID:0081262 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies oboInOwl:hasDbXref OMIM:619556 semapv:UnspecifiedMatching -DOID:0081262 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies skos:exactMatch OMIM:619556 semapv:UnspecifiedMatching -DOID:0081263 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities oboInOwl:hasDbXref OMIM:617913 semapv:UnspecifiedMatching -DOID:0081263 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities skos:exactMatch OMIM:617913 semapv:UnspecifiedMatching -DOID:0081265 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature oboInOwl:hasDbXref OMIM:618342 semapv:UnspecifiedMatching -DOID:0081265 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature skos:exactMatch OMIM:618342 semapv:UnspecifiedMatching -DOID:0081266 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures oboInOwl:hasDbXref OMIM:618737 semapv:UnspecifiedMatching -DOID:0081266 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures skos:exactMatch OMIM:618737 semapv:UnspecifiedMatching DOID:0081267 graft-versus-host disease oboInOwl:hasDbXref MESH:D006086 semapv:UnspecifiedMatching -DOID:0081267 graft-versus-host disease oboInOwl:hasDbXref OMIM:614395 semapv:UnspecifiedMatching DOID:0081267 graft-versus-host disease oboInOwl:hasDbXref ORDO:39812 semapv:UnspecifiedMatching -DOID:0081267 graft-versus-host disease skos:exactMatch OMIM:614395 semapv:UnspecifiedMatching -DOID:0081268 pulmonary venoocclusive disease 1 oboInOwl:hasDbXref OMIM:265450 semapv:UnspecifiedMatching -DOID:0081268 pulmonary venoocclusive disease 1 skos:exactMatch OMIM:265450 semapv:UnspecifiedMatching -DOID:0081269 pulmonary venoocclusive disease 2 oboInOwl:hasDbXref OMIM:234810 semapv:UnspecifiedMatching -DOID:0081269 pulmonary venoocclusive disease 2 skos:exactMatch OMIM:234810 semapv:UnspecifiedMatching -DOID:0081270 Smith-McCort dysplasia 1 oboInOwl:hasDbXref OMIM:607326 semapv:UnspecifiedMatching -DOID:0081270 Smith-McCort dysplasia 1 skos:exactMatch OMIM:607326 semapv:UnspecifiedMatching -DOID:0081271 Smith-McCort dysplasia 2 oboInOwl:hasDbXref OMIM:615222 semapv:UnspecifiedMatching -DOID:0081271 Smith-McCort dysplasia 2 skos:exactMatch OMIM:615222 semapv:UnspecifiedMatching -DOID:0081272 Sandestig-Stefanova syndrome oboInOwl:hasDbXref OMIM:618804 semapv:UnspecifiedMatching -DOID:0081272 Sandestig-Stefanova syndrome skos:exactMatch OMIM:618804 semapv:UnspecifiedMatching -DOID:0081273 Siddiqi syndrome oboInOwl:hasDbXref OMIM:618635 semapv:UnspecifiedMatching -DOID:0081273 Siddiqi syndrome skos:exactMatch OMIM:618635 semapv:UnspecifiedMatching -DOID:0081274 peroxisome biogenesis disorder 14B oboInOwl:hasDbXref OMIM:614920 semapv:UnspecifiedMatching -DOID:0081274 peroxisome biogenesis disorder 14B skos:exactMatch OMIM:614920 semapv:UnspecifiedMatching -DOID:0081275 neurodevelopmental disorder with eye movement abnormalities and ataxia oboInOwl:hasDbXref OMIM:620094 semapv:UnspecifiedMatching -DOID:0081275 neurodevelopmental disorder with eye movement abnormalities and ataxia skos:exactMatch OMIM:620094 semapv:UnspecifiedMatching -DOID:0081276 cerebellar atrophy, visual impairment, and psychomotor retardation oboInOwl:hasDbXref OMIM:616875 semapv:UnspecifiedMatching DOID:0081276 cerebellar atrophy, visual impairment, and psychomotor retardation oboInOwl:hasDbXref ORDO:480898 semapv:UnspecifiedMatching -DOID:0081276 cerebellar atrophy, visual impairment, and psychomotor retardation skos:exactMatch OMIM:616875 semapv:UnspecifiedMatching DOID:0081277 diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype oboInOwl:hasDbXref ICDO:9385/3 semapv:UnspecifiedMatching DOID:0081277 diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype oboInOwl:hasDbXref NCI:C185467 semapv:UnspecifiedMatching DOID:0081278 infant-type hemispheric glioma oboInOwl:hasDbXref ICDO:9385/3 semapv:UnspecifiedMatching @@ -9088,32 +4396,10 @@ DOID:0081285 myxoid glioneuronal tumor oboInOwl:hasDbXref ICDO:9509/1 semapv:Uns DOID:0081285 myxoid glioneuronal tumor oboInOwl:hasDbXref NCI:C179229 semapv:UnspecifiedMatching DOID:0081286 embryonal tumor with multilayered rosettes oboInOwl:hasDbXref ICDO:9478/3 semapv:UnspecifiedMatching DOID:0081286 embryonal tumor with multilayered rosettes oboInOwl:hasDbXref NCI:C186534 semapv:UnspecifiedMatching -DOID:0081287 white sponge nevus 1 oboInOwl:hasDbXref OMIM:193900 semapv:UnspecifiedMatching -DOID:0081287 white sponge nevus 1 skos:exactMatch OMIM:193900 semapv:UnspecifiedMatching -DOID:0081288 white sponge nevus 2 oboInOwl:hasDbXref OMIM:615785 semapv:UnspecifiedMatching -DOID:0081288 white sponge nevus 2 skos:exactMatch OMIM:615785 semapv:UnspecifiedMatching DOID:0081289 Antley-Bixler syndrome oboInOwl:hasDbXref GARD:5826 semapv:UnspecifiedMatching -DOID:0081290 Antley-Bixler syndrome without disordered steroidogenesis oboInOwl:hasDbXref OMIM:207410 semapv:UnspecifiedMatching -DOID:0081290 Antley-Bixler syndrome without disordered steroidogenesis skos:exactMatch OMIM:207410 semapv:UnspecifiedMatching DOID:0081293 salivary gland mucoepidermoid carcinoma oboInOwl:hasDbXref NCI:C5908 semapv:UnspecifiedMatching -DOID:0081294 neuronal intranuclear inclusion disease oboInOwl:hasDbXref OMIM:603472 semapv:UnspecifiedMatching -DOID:0081294 neuronal intranuclear inclusion disease skos:exactMatch OMIM:603472 semapv:UnspecifiedMatching -DOID:0081295 essential tremor 6 oboInOwl:hasDbXref OMIM:618866 semapv:UnspecifiedMatching -DOID:0081295 essential tremor 6 skos:exactMatch OMIM:618866 semapv:UnspecifiedMatching DOID:0081296 oculopharyngodistal myopathy oboInOwl:hasDbXref GARD:12592 semapv:UnspecifiedMatching -DOID:0081296 oculopharyngodistal myopathy oboInOwl:hasDbXref OMIMPS:164310 semapv:UnspecifiedMatching DOID:0081296 oculopharyngodistal myopathy oboInOwl:hasDbXref ORDO:98897 semapv:UnspecifiedMatching -DOID:0081296 oculopharyngodistal myopathy skos:exactMatch OMIMPS:164310 semapv:UnspecifiedMatching -DOID:0081297 oculopharyngodistal myopathy 1 oboInOwl:hasDbXref OMIM:164310 semapv:UnspecifiedMatching -DOID:0081297 oculopharyngodistal myopathy 1 skos:exactMatch OMIM:164310 semapv:UnspecifiedMatching -DOID:0081298 oculopharyngodistal myopathy 2 oboInOwl:hasDbXref OMIM:618940 semapv:UnspecifiedMatching -DOID:0081298 oculopharyngodistal myopathy 2 skos:exactMatch OMIM:618940 semapv:UnspecifiedMatching -DOID:0081299 oculopharyngodistal myopathy 3 oboInOwl:hasDbXref OMIM:619473 semapv:UnspecifiedMatching -DOID:0081299 oculopharyngodistal myopathy 3 skos:exactMatch OMIM:619473 semapv:UnspecifiedMatching -DOID:0081300 oculopharyngodistal myopathy 4 oboInOwl:hasDbXref OMIM:619790 semapv:UnspecifiedMatching -DOID:0081300 oculopharyngodistal myopathy 4 skos:exactMatch OMIM:619790 semapv:UnspecifiedMatching -DOID:0081301 intellectual developmental disorder with ocular anomalies and distinctive facial features oboInOwl:hasDbXref OMIM:620086 semapv:UnspecifiedMatching -DOID:0081301 intellectual developmental disorder with ocular anomalies and distinctive facial features skos:exactMatch OMIM:620086 semapv:UnspecifiedMatching DOID:0081302 diffuse leptomeningeal glioneuronal tumor oboInOwl:hasDbXref ICDO:9509/3 semapv:UnspecifiedMatching DOID:0081302 diffuse leptomeningeal glioneuronal tumor oboInOwl:hasDbXref NCI:C129424 semapv:UnspecifiedMatching DOID:0081303 multinodular and vacuolating neuronal tumor oboInOwl:hasDbXref ICDO:9509/0 semapv:UnspecifiedMatching @@ -9150,171 +4436,40 @@ DOID:0081315 central nervous system tumor with BCOR internal tandem duplication DOID:0081316 primary intracranial sarcoma, DICER1-mutant oboInOwl:hasDbXref ICDO:9480/3 semapv:UnspecifiedMatching DOID:0081316 primary intracranial sarcoma, DICER1-mutant oboInOwl:hasDbXref NCI:C186610 semapv:UnspecifiedMatching DOID:0081317 multiple synostoses syndrome 1 oboInOwl:hasDbXref GARD:3836 semapv:UnspecifiedMatching -DOID:0081317 multiple synostoses syndrome 1 oboInOwl:hasDbXref OMIM:186500 semapv:UnspecifiedMatching -DOID:0081317 multiple synostoses syndrome 1 skos:exactMatch OMIM:186500 semapv:UnspecifiedMatching DOID:0081318 multiple synostoses syndrome 2 oboInOwl:hasDbXref GARD:9916 semapv:UnspecifiedMatching -DOID:0081318 multiple synostoses syndrome 2 oboInOwl:hasDbXref OMIM:610017 semapv:UnspecifiedMatching -DOID:0081318 multiple synostoses syndrome 2 skos:exactMatch OMIM:610017 semapv:UnspecifiedMatching -DOID:0081319 multiple synostoses syndrome 3 oboInOwl:hasDbXref OMIM:612961 semapv:UnspecifiedMatching -DOID:0081319 multiple synostoses syndrome 3 skos:exactMatch OMIM:612961 semapv:UnspecifiedMatching -DOID:0081320 multiple synostoses syndrome 4 oboInOwl:hasDbXref OMIM:617898 semapv:UnspecifiedMatching -DOID:0081320 multiple synostoses syndrome 4 skos:exactMatch OMIM:617898 semapv:UnspecifiedMatching -DOID:0081321 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A oboInOwl:hasDbXref OMIM:178110 semapv:UnspecifiedMatching DOID:0081321 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A oboInOwl:hasDbXref ORDO:65743 semapv:UnspecifiedMatching -DOID:0081321 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A skos:exactMatch OMIM:178110 semapv:UnspecifiedMatching DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B oboInOwl:hasDbXref GARD:7111 semapv:UnspecifiedMatching -DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B oboInOwl:hasDbXref OMIM:618469 semapv:UnspecifiedMatching DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B oboInOwl:hasDbXref ORDO:2990 semapv:UnspecifiedMatching -DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B skos:exactMatch OMIM:618469 semapv:UnspecifiedMatching -DOID:0081324 neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss oboInOwl:hasDbXref OMIM:620071 semapv:UnspecifiedMatching -DOID:0081324 neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss skos:exactMatch OMIM:620071 semapv:UnspecifiedMatching -DOID:0081325 developmental and epileptic encephalopathy 94 oboInOwl:hasDbXref OMIM:615369 semapv:UnspecifiedMatching -DOID:0081325 developmental and epileptic encephalopathy 94 skos:exactMatch OMIM:615369 semapv:UnspecifiedMatching DOID:0081326 oxoglutarate dehydrogenase deficiency oboInOwl:hasDbXref GARD:617 semapv:UnspecifiedMatching -DOID:0081326 oxoglutarate dehydrogenase deficiency oboInOwl:hasDbXref OMIM:203740 semapv:UnspecifiedMatching DOID:0081326 oxoglutarate dehydrogenase deficiency oboInOwl:hasDbXref ORDO:31 semapv:UnspecifiedMatching -DOID:0081326 oxoglutarate dehydrogenase deficiency skos:exactMatch OMIM:203740 semapv:UnspecifiedMatching -DOID:0081327 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures oboInOwl:hasDbXref OMIM:618088 semapv:UnspecifiedMatching -DOID:0081327 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures skos:exactMatch OMIM:618088 semapv:UnspecifiedMatching -DOID:0081328 familial hyperinsulinemic hypoglycemia 8 oboInOwl:hasDbXref OMIM:620211 semapv:UnspecifiedMatching -DOID:0081328 familial hyperinsulinemic hypoglycemia 8 skos:exactMatch OMIM:620211 semapv:UnspecifiedMatching DOID:0081329 glycogen storage disease I oboInOwl:hasDbXref ICD10CM:E74.01 semapv:UnspecifiedMatching DOID:0081329 glycogen storage disease I oboInOwl:hasDbXref MESH:D005953 semapv:UnspecifiedMatching DOID:0081329 glycogen storage disease I oboInOwl:hasDbXref NCI:C84733 semapv:UnspecifiedMatching DOID:0081329 glycogen storage disease I oboInOwl:hasDbXref ORDO:364 semapv:UnspecifiedMatching DOID:0081329 glycogen storage disease I oboInOwl:hasDbXref UMLS:C0017920 semapv:UnspecifiedMatching -DOID:0081330 glycogen storage disease Ib oboInOwl:hasDbXref OMIM:232220 semapv:UnspecifiedMatching -DOID:0081330 glycogen storage disease Ib skos:exactMatch OMIM:232220 semapv:UnspecifiedMatching -DOID:0081331 glycogen storage disease Ic oboInOwl:hasDbXref OMIM:232240 semapv:UnspecifiedMatching -DOID:0081331 glycogen storage disease Ic skos:exactMatch OMIM:232240 semapv:UnspecifiedMatching -DOID:0081332 progeroid syndrome oboInOwl:hasDbXref OMIMPS:176670 semapv:UnspecifiedMatching -DOID:0081332 progeroid syndrome skos:exactMatch OMIMPS:176670 semapv:UnspecifiedMatching DOID:0081333 Wiedemann-Rautenstrauch syndrome oboInOwl:hasDbXref GARD:330 semapv:UnspecifiedMatching -DOID:0081333 Wiedemann-Rautenstrauch syndrome oboInOwl:hasDbXref OMIM:264090 semapv:UnspecifiedMatching DOID:0081333 Wiedemann-Rautenstrauch syndrome oboInOwl:hasDbXref ORDO:3455 semapv:UnspecifiedMatching -DOID:0081333 Wiedemann-Rautenstrauch syndrome skos:exactMatch OMIM:264090 semapv:UnspecifiedMatching DOID:0081334 Nestor-Guillermo progeria syndrome oboInOwl:hasDbXref GARD:11008 semapv:UnspecifiedMatching -DOID:0081334 Nestor-Guillermo progeria syndrome oboInOwl:hasDbXref OMIM:614008 semapv:UnspecifiedMatching DOID:0081334 Nestor-Guillermo progeria syndrome oboInOwl:hasDbXref ORDO:280576 semapv:UnspecifiedMatching -DOID:0081334 Nestor-Guillermo progeria syndrome skos:exactMatch OMIM:614008 semapv:UnspecifiedMatching -DOID:0081335 Becker disease oboInOwl:hasDbXref OMIM:255300 semapv:UnspecifiedMatching -DOID:0081335 Becker disease oboInOwl:hasDbXref OMIM:255700 semapv:UnspecifiedMatching -DOID:0081335 Becker disease skos:exactMatch OMIM:255700 semapv:UnspecifiedMatching -DOID:0081336 Thomsen disease oboInOwl:hasDbXref OMIM:160800 semapv:UnspecifiedMatching -DOID:0081336 Thomsen disease skos:exactMatch OMIM:160800 semapv:UnspecifiedMatching -DOID:0081338 myofibrillar myopathy 11 oboInOwl:hasDbXref OMIM:619178 semapv:UnspecifiedMatching -DOID:0081338 myofibrillar myopathy 11 skos:exactMatch OMIM:619178 semapv:UnspecifiedMatching -DOID:0081339 congenital myopathy 2B oboInOwl:hasDbXref OMIM:620265 semapv:UnspecifiedMatching -DOID:0081339 congenital myopathy 2B skos:exactMatch OMIM:620265 semapv:UnspecifiedMatching -DOID:0081340 congenital myopathy 2C oboInOwl:hasDbXref OMIM:620278 semapv:UnspecifiedMatching -DOID:0081340 congenital myopathy 2C skos:exactMatch OMIM:620278 semapv:UnspecifiedMatching -DOID:0081341 congenital myopathy 5 oboInOwl:hasDbXref OMIM:611705 semapv:UnspecifiedMatching DOID:0081341 congenital myopathy 5 oboInOwl:hasDbXref ORDO:289377 semapv:UnspecifiedMatching -DOID:0081341 congenital myopathy 5 skos:exactMatch OMIM:611705 semapv:UnspecifiedMatching -DOID:0081342 congenital myopathy 8 oboInOwl:hasDbXref OMIM:618654 semapv:UnspecifiedMatching -DOID:0081342 congenital myopathy 8 skos:exactMatch OMIM:618654 semapv:UnspecifiedMatching -DOID:0081343 congenital myopathy 9A oboInOwl:hasDbXref OMIM:618822 semapv:UnspecifiedMatching -DOID:0081343 congenital myopathy 9A skos:exactMatch OMIM:618822 semapv:UnspecifiedMatching -DOID:0081344 congenital myopathy 9B oboInOwl:hasDbXref OMIM:618823 semapv:UnspecifiedMatching -DOID:0081344 congenital myopathy 9B skos:exactMatch OMIM:618823 semapv:UnspecifiedMatching -DOID:0081345 congenital myopathy 10B oboInOwl:hasDbXref OMIM:620249 semapv:UnspecifiedMatching -DOID:0081345 congenital myopathy 10B skos:exactMatch OMIM:620249 semapv:UnspecifiedMatching -DOID:0081346 congenital myopathy 14 oboInOwl:hasDbXref OMIM:618414 semapv:UnspecifiedMatching DOID:0081346 congenital myopathy 14 oboInOwl:hasDbXref ORDO:544602 semapv:UnspecifiedMatching -DOID:0081346 congenital myopathy 14 skos:exactMatch OMIM:618414 semapv:UnspecifiedMatching -DOID:0081347 congenital myopathy 15 oboInOwl:hasDbXref OMIM:620161 semapv:UnspecifiedMatching -DOID:0081347 congenital myopathy 15 skos:exactMatch OMIM:620161 semapv:UnspecifiedMatching -DOID:0081348 congenital myopathy 16 oboInOwl:hasDbXref OMIM:618524 semapv:UnspecifiedMatching -DOID:0081348 congenital myopathy 16 skos:exactMatch OMIM:618524 semapv:UnspecifiedMatching -DOID:0081349 congenital myopathy 17 oboInOwl:hasDbXref OMIM:618975 semapv:UnspecifiedMatching -DOID:0081349 congenital myopathy 17 skos:exactMatch OMIM:618975 semapv:UnspecifiedMatching -DOID:0081350 congenital myopathy 18 oboInOwl:hasDbXref OMIM:620246 semapv:UnspecifiedMatching -DOID:0081350 congenital myopathy 18 skos:exactMatch OMIM:620246 semapv:UnspecifiedMatching -DOID:0081351 congenital myopathy 19 oboInOwl:hasDbXref OMIM:618578 semapv:UnspecifiedMatching -DOID:0081351 congenital myopathy 19 skos:exactMatch OMIM:618578 semapv:UnspecifiedMatching -DOID:0081352 congenital myopathy 20 oboInOwl:hasDbXref OMIM:620310 semapv:UnspecifiedMatching -DOID:0081352 congenital myopathy 20 skos:exactMatch OMIM:620310 semapv:UnspecifiedMatching -DOID:0081353 congenital myopathy 21 oboInOwl:hasDbXref OMIM:620326 semapv:UnspecifiedMatching -DOID:0081353 congenital myopathy 21 skos:exactMatch OMIM:620326 semapv:UnspecifiedMatching -DOID:0081354 congenital myopathy 22A oboInOwl:hasDbXref OMIM:620351 semapv:UnspecifiedMatching -DOID:0081354 congenital myopathy 22A skos:exactMatch OMIM:620351 semapv:UnspecifiedMatching -DOID:0081355 congenital myopathy 22B oboInOwl:hasDbXref OMIM:620369 semapv:UnspecifiedMatching -DOID:0081355 congenital myopathy 22B skos:exactMatch OMIM:620369 semapv:UnspecifiedMatching -DOID:0081356 spinal muscular atrophy, Jokela type oboInOwl:hasDbXref OMIM:615048 semapv:UnspecifiedMatching DOID:0081356 spinal muscular atrophy, Jokela type oboInOwl:hasDbXref ORDO:276435 semapv:UnspecifiedMatching -DOID:0081356 spinal muscular atrophy, Jokela type skos:exactMatch OMIM:615048 semapv:UnspecifiedMatching -DOID:0081357 isolated mitochondrial myopathy oboInOwl:hasDbXref OMIM:616209 semapv:UnspecifiedMatching DOID:0081357 isolated mitochondrial myopathy oboInOwl:hasDbXref ORDO:457050 semapv:UnspecifiedMatching -DOID:0081357 isolated mitochondrial myopathy skos:exactMatch OMIM:616209 semapv:UnspecifiedMatching -DOID:0081358 epidermolytic hyperkeratosis 1 oboInOwl:hasDbXref OMIM:113800 semapv:UnspecifiedMatching DOID:0081358 epidermolytic hyperkeratosis 1 oboInOwl:hasDbXref ORDO:312 semapv:UnspecifiedMatching -DOID:0081358 epidermolytic hyperkeratosis 1 skos:exactMatch OMIM:113800 semapv:UnspecifiedMatching -DOID:0081359 epidermolytic hyperkeratosis 2 oboInOwl:hasDbXref OMIM:620150 semapv:UnspecifiedMatching -DOID:0081359 epidermolytic hyperkeratosis 2 skos:exactMatch OMIM:620150 semapv:UnspecifiedMatching -DOID:0081360 spastic quadriplegic cerebral palsy 2 oboInOwl:hasDbXref OMIM:612900 semapv:UnspecifiedMatching -DOID:0081360 spastic quadriplegic cerebral palsy 2 skos:exactMatch OMIM:612900 semapv:UnspecifiedMatching -DOID:0081361 spastic quadriplegic cerebral palsy 3 oboInOwl:hasDbXref OMIM:617008 semapv:UnspecifiedMatching -DOID:0081361 spastic quadriplegic cerebral palsy 3 skos:exactMatch OMIM:617008 semapv:UnspecifiedMatching -DOID:0081362 Pierpont syndrome oboInOwl:hasDbXref OMIM:602342 semapv:UnspecifiedMatching DOID:0081362 Pierpont syndrome oboInOwl:hasDbXref ORDO:487825 semapv:UnspecifiedMatching -DOID:0081362 Pierpont syndrome skos:exactMatch OMIM:602342 semapv:UnspecifiedMatching -DOID:0081363 distal myopathy with rimmed vacuoles oboInOwl:hasDbXref OMIM:617158 semapv:UnspecifiedMatching DOID:0081363 distal myopathy with rimmed vacuoles oboInOwl:hasDbXref ORDO:602 semapv:UnspecifiedMatching -DOID:0081363 distal myopathy with rimmed vacuoles skos:exactMatch OMIM:617158 semapv:UnspecifiedMatching -DOID:0081364 neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset oboInOwl:hasDbXref OMIM:617145 semapv:UnspecifiedMatching -DOID:0081364 neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset skos:exactMatch OMIM:617145 semapv:UnspecifiedMatching -DOID:0081365 Paget's disease of bone 2 oboInOwl:hasDbXref OMIM:602080 semapv:UnspecifiedMatching -DOID:0081365 Paget's disease of bone 2 skos:exactMatch OMIM:602080 semapv:UnspecifiedMatching -DOID:0081366 Paget's disease of bone 3 oboInOwl:hasDbXref OMIM:167250 semapv:UnspecifiedMatching -DOID:0081366 Paget's disease of bone 3 skos:exactMatch OMIM:167250 semapv:UnspecifiedMatching -DOID:0081367 Paget's disease of bone 4 oboInOwl:hasDbXref OMIM:606263 semapv:UnspecifiedMatching -DOID:0081367 Paget's disease of bone 4 skos:exactMatch OMIM:606263 semapv:UnspecifiedMatching DOID:0081368 Paget's disease of bone 5 oboInOwl:hasDbXref GARD:2831 semapv:UnspecifiedMatching -DOID:0081368 Paget's disease of bone 5 oboInOwl:hasDbXref OMIM:239000 semapv:UnspecifiedMatching DOID:0081368 Paget's disease of bone 5 oboInOwl:hasDbXref ORDO:2801 semapv:UnspecifiedMatching -DOID:0081368 Paget's disease of bone 5 skos:exactMatch OMIM:239000 semapv:UnspecifiedMatching -DOID:0081369 Paget's disease of bone 6 oboInOwl:hasDbXref OMIM:616833 semapv:UnspecifiedMatching -DOID:0081369 Paget's disease of bone 6 skos:exactMatch OMIM:616833 semapv:UnspecifiedMatching -DOID:0081370 LADD syndrome oboInOwl:hasDbXref OMIMPS:149730 semapv:UnspecifiedMatching DOID:0081370 LADD syndrome oboInOwl:hasDbXref ORDO:2363 semapv:UnspecifiedMatching -DOID:0081370 LADD syndrome skos:exactMatch OMIMPS:149730 semapv:UnspecifiedMatching -DOID:0081371 lacrimoauriculodentodigital syndrome 2 oboInOwl:hasDbXref OMIM:620192 semapv:UnspecifiedMatching -DOID:0081371 lacrimoauriculodentodigital syndrome 2 skos:exactMatch OMIM:620192 semapv:UnspecifiedMatching -DOID:0081372 lacrimoauriculodentodigital syndrome 3 oboInOwl:hasDbXref OMIM:620193 semapv:UnspecifiedMatching -DOID:0081372 lacrimoauriculodentodigital syndrome 3 skos:exactMatch OMIM:620193 semapv:UnspecifiedMatching -DOID:0081374 nemaline myopathy 5B oboInOwl:hasDbXref OMIM:620386 semapv:UnspecifiedMatching -DOID:0081374 nemaline myopathy 5B skos:exactMatch OMIM:620386 semapv:UnspecifiedMatching -DOID:0081375 nemaline myopathy 5C oboInOwl:hasDbXref OMIM:620389 semapv:UnspecifiedMatching -DOID:0081375 nemaline myopathy 5C skos:exactMatch OMIM:620389 semapv:UnspecifiedMatching DOID:0081377 COX deficiency, benign infantile mitochondrial myopathy oboInOwl:hasDbXref GARD:48 semapv:UnspecifiedMatching DOID:0081377 COX deficiency, benign infantile mitochondrial myopathy oboInOwl:hasDbXref ORDO:254905 semapv:UnspecifiedMatching DOID:0081377 COX deficiency, benign infantile mitochondrial myopathy oboInOwl:hasDbXref UMLS:C5779825 semapv:UnspecifiedMatching -DOID:0081378 amyotrophic lateral sclerosis type 24 oboInOwl:hasDbXref OMIM:617892 semapv:UnspecifiedMatching -DOID:0081378 amyotrophic lateral sclerosis type 24 skos:exactMatch OMIM:617892 semapv:UnspecifiedMatching -DOID:0081379 amyotrophic lateral sclerosis type 25 oboInOwl:hasDbXref OMIM:617921 semapv:UnspecifiedMatching -DOID:0081379 amyotrophic lateral sclerosis type 25 skos:exactMatch OMIM:617921 semapv:UnspecifiedMatching -DOID:0081380 amyotrophic lateral sclerosis type 26 oboInOwl:hasDbXref OMIM:619133 semapv:UnspecifiedMatching -DOID:0081380 amyotrophic lateral sclerosis type 26 skos:exactMatch OMIM:619133 semapv:UnspecifiedMatching -DOID:0081381 juvenile amyotrophic lateral sclerosis type 27 oboInOwl:hasDbXref OMIM:620285 semapv:UnspecifiedMatching -DOID:0081381 juvenile amyotrophic lateral sclerosis type 27 skos:exactMatch OMIM:620285 semapv:UnspecifiedMatching -DOID:0081382 amyotrophic lateral sclerosis type 28 oboInOwl:hasDbXref OMIM:620452 semapv:UnspecifiedMatching -DOID:0081382 amyotrophic lateral sclerosis type 28 skos:exactMatch OMIM:620452 semapv:UnspecifiedMatching DOID:0081383 ataxia-oculomotor apraxia type 4 oboInOwl:hasDbXref GARD:13111 semapv:UnspecifiedMatching -DOID:0081383 ataxia-oculomotor apraxia type 4 oboInOwl:hasDbXref OMIM:616267 semapv:UnspecifiedMatching DOID:0081383 ataxia-oculomotor apraxia type 4 oboInOwl:hasDbXref ORDO:459033 semapv:UnspecifiedMatching -DOID:0081383 ataxia-oculomotor apraxia type 4 skos:exactMatch OMIM:616267 semapv:UnspecifiedMatching -DOID:0081384 ataxia-telangiectasia-like disorder-1 oboInOwl:hasDbXref OMIM:604391 semapv:UnspecifiedMatching DOID:0081384 ataxia-telangiectasia-like disorder-1 oboInOwl:hasDbXref ORDO:251347 semapv:UnspecifiedMatching -DOID:0081384 ataxia-telangiectasia-like disorder-1 skos:exactMatch OMIM:604391 semapv:UnspecifiedMatching -DOID:0081385 ataxia-telangiectasia-like disorder-2 oboInOwl:hasDbXref OMIM:615919 semapv:UnspecifiedMatching DOID:0081385 ataxia-telangiectasia-like disorder-2 oboInOwl:hasDbXref ORDO:438134 semapv:UnspecifiedMatching -DOID:0081385 ataxia-telangiectasia-like disorder-2 skos:exactMatch OMIM:615919 semapv:UnspecifiedMatching DOID:0081386 TANGO2-related metabolic encephalopathy and arrythmias oboInOwl:hasDbXref GARD:13423 semapv:UnspecifiedMatching -DOID:0081386 TANGO2-related metabolic encephalopathy and arrythmias oboInOwl:hasDbXref OMIM:616878 semapv:UnspecifiedMatching DOID:0081386 TANGO2-related metabolic encephalopathy and arrythmias oboInOwl:hasDbXref ORDO:480864 semapv:UnspecifiedMatching -DOID:0081386 TANGO2-related metabolic encephalopathy and arrythmias skos:exactMatch OMIM:616878 semapv:UnspecifiedMatching -DOID:0081387 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities oboInOwl:hasDbXref OMIM:620428 semapv:UnspecifiedMatching -DOID:0081387 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities skos:exactMatch OMIM:620428 semapv:UnspecifiedMatching DOID:0081388 primary progressive aphasia oboInOwl:hasDbXref GARD:8541 semapv:UnspecifiedMatching DOID:0081388 primary progressive aphasia oboInOwl:hasDbXref ORDO:95432 semapv:UnspecifiedMatching DOID:0081389 logopenic progressive aphasia oboInOwl:hasDbXref GARD:10791 semapv:UnspecifiedMatching @@ -9325,22 +4480,8 @@ DOID:0081391 semantic dementia oboInOwl:hasDbXref GARD:10792 semapv:UnspecifiedM DOID:0081391 semantic dementia oboInOwl:hasDbXref ORDO:100069 semapv:UnspecifiedMatching DOID:0081392 corticobasal degeneration syndrome oboInOwl:hasDbXref ORDO:454887 semapv:UnspecifiedMatching DOID:0081394 Caroli syndrome oboInOwl:hasDbXref GARD:6002 semapv:UnspecifiedMatching -DOID:0081395 Harel-Yoon syndrome oboInOwl:hasDbXref OMIM:617183 semapv:UnspecifiedMatching DOID:0081395 Harel-Yoon syndrome oboInOwl:hasDbXref ORDO:496790 semapv:UnspecifiedMatching -DOID:0081395 Harel-Yoon syndrome skos:exactMatch OMIM:617183 semapv:UnspecifiedMatching -DOID:0081396 neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome oboInOwl:hasDbXref OMIM:618810 semapv:UnspecifiedMatching DOID:0081396 neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome oboInOwl:hasDbXref ORDO:615983 semapv:UnspecifiedMatching -DOID:0081396 neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome skos:exactMatch OMIM:618810 semapv:UnspecifiedMatching -DOID:0081397 Vissers-Bodmer syndrome oboInOwl:hasDbXref OMIM:619033 semapv:UnspecifiedMatching -DOID:0081397 Vissers-Bodmer syndrome skos:exactMatch OMIM:619033 semapv:UnspecifiedMatching -DOID:0081398 holoprosencephaly 12 oboInOwl:hasDbXref OMIM:618500 semapv:UnspecifiedMatching -DOID:0081398 holoprosencephaly 12 skos:exactMatch OMIM:618500 semapv:UnspecifiedMatching -DOID:0081399 autosomal dominant distal hereditary motor neuronopathy 10 oboInOwl:hasDbXref OMIM:620080 semapv:UnspecifiedMatching -DOID:0081399 autosomal dominant distal hereditary motor neuronopathy 10 skos:exactMatch OMIM:620080 semapv:UnspecifiedMatching -DOID:0081400 autosomal dominant distal hereditary motor neuronopathy 11 oboInOwl:hasDbXref OMIM:620528 semapv:UnspecifiedMatching -DOID:0081400 autosomal dominant distal hereditary motor neuronopathy 11 skos:exactMatch OMIM:620528 semapv:UnspecifiedMatching -DOID:0081401 autosomal dominant distal hereditary motor neuronopathy 13 oboInOwl:hasDbXref OMIM:619112 semapv:UnspecifiedMatching -DOID:0081401 autosomal dominant distal hereditary motor neuronopathy 13 skos:exactMatch OMIM:619112 semapv:UnspecifiedMatching DOID:0081402 sarcoma with BCOR genetic alterations oboInOwl:hasDbXref ICDO:9368/3 semapv:UnspecifiedMatching DOID:0081402 sarcoma with BCOR genetic alterations oboInOwl:hasDbXref NCI:C178465 semapv:UnspecifiedMatching DOID:0081403 BCOR ITD sarcoma oboInOwl:hasDbXref NCI:C178468 semapv:UnspecifiedMatching @@ -9364,3319 +4505,1391 @@ DOID:0081417 poorly differentiated chordoma oboInOwl:hasDbXref NCI:C177898 semap DOID:0081418 anaplastic sarcoma of the kidney oboInOwl:hasDbXref ICDO:8802/3 semapv:UnspecifiedMatching DOID:0081418 anaplastic sarcoma of the kidney oboInOwl:hasDbXref NCI:C154496 semapv:UnspecifiedMatching DOID:0081419 childhood-onset dystonia with optic atrophy and basal ganglia abnormalities oboInOwl:hasDbXref GARD:13488 semapv:UnspecifiedMatching -DOID:0081419 childhood-onset dystonia with optic atrophy and basal ganglia abnormalities oboInOwl:hasDbXref OMIM:617282 semapv:UnspecifiedMatching DOID:0081419 childhood-onset dystonia with optic atrophy and basal ganglia abnormalities oboInOwl:hasDbXref ORDO:508093 semapv:UnspecifiedMatching -DOID:0081419 childhood-onset dystonia with optic atrophy and basal ganglia abnormalities skos:exactMatch OMIM:617282 semapv:UnspecifiedMatching DOID:0081420 familial focal epilepsy with variable foci oboInOwl:hasDbXref GARD:13295 semapv:UnspecifiedMatching -DOID:0081420 familial focal epilepsy with variable foci oboInOwl:hasDbXref OMIMPS:604364 semapv:UnspecifiedMatching DOID:0081420 familial focal epilepsy with variable foci oboInOwl:hasDbXref ORDO:98820 semapv:UnspecifiedMatching -DOID:0081420 familial focal epilepsy with variable foci skos:exactMatch OMIMPS:604364 semapv:UnspecifiedMatching -DOID:0081421 familial focal epilepsy with variable foci 1 oboInOwl:hasDbXref OMIM:604364 semapv:UnspecifiedMatching -DOID:0081421 familial focal epilepsy with variable foci 1 skos:exactMatch OMIM:604364 semapv:UnspecifiedMatching -DOID:0081422 familial focal epilepsy with variable foci 2 oboInOwl:hasDbXref OMIM:617116 semapv:UnspecifiedMatching -DOID:0081422 familial focal epilepsy with variable foci 2 skos:exactMatch OMIM:617116 semapv:UnspecifiedMatching -DOID:0081423 familial focal epilepsy with variable foci 3 oboInOwl:hasDbXref OMIM:617118 semapv:UnspecifiedMatching -DOID:0081423 familial focal epilepsy with variable foci 3 skos:exactMatch OMIM:617118 semapv:UnspecifiedMatching -DOID:0081424 familial focal epilepsy with variable foci 4 oboInOwl:hasDbXref OMIM:617935 semapv:UnspecifiedMatching -DOID:0081424 familial focal epilepsy with variable foci 4 skos:exactMatch OMIM:617935 semapv:UnspecifiedMatching -DOID:0081425 autosomal recessive distal hereditary motor neuronopathy 6 oboInOwl:hasDbXref OMIM:620011 semapv:UnspecifiedMatching -DOID:0081425 autosomal recessive distal hereditary motor neuronopathy 6 skos:exactMatch OMIM:620011 semapv:UnspecifiedMatching -DOID:0081426 autosomal recessive distal hereditary motor neuronopathy 7 oboInOwl:hasDbXref OMIM:619216 semapv:UnspecifiedMatching -DOID:0081426 autosomal recessive distal hereditary motor neuronopathy 7 skos:exactMatch OMIM:619216 semapv:UnspecifiedMatching -DOID:0081427 autosomal recessive distal hereditary motor neuronopathy 8 oboInOwl:hasDbXref OMIM:618912 semapv:UnspecifiedMatching -DOID:0081427 autosomal recessive distal hereditary motor neuronopathy 8 skos:exactMatch OMIM:618912 semapv:UnspecifiedMatching -DOID:0081428 autosomal recessive distal hereditary motor neuronopathy 9 oboInOwl:hasDbXref OMIM:620402 semapv:UnspecifiedMatching -DOID:0081428 autosomal recessive distal hereditary motor neuronopathy 9 skos:exactMatch OMIM:620402 semapv:UnspecifiedMatching -DOID:0081429 autosomal recessive distal hereditary motor neuronopathy 10 oboInOwl:hasDbXref OMIM:620542 semapv:UnspecifiedMatching -DOID:0081429 autosomal recessive distal hereditary motor neuronopathy 10 skos:exactMatch OMIM:620542 semapv:UnspecifiedMatching -DOID:0081430 intellectual developmental disorder with autistic features and language delay, with or without seizures oboInOwl:hasDbXref OMIM:618906 semapv:UnspecifiedMatching -DOID:0081430 intellectual developmental disorder with autistic features and language delay, with or without seizures skos:exactMatch OMIM:618906 semapv:UnspecifiedMatching -DOID:0081431 microcephaly, short stature, and limb abnormalities oboInOwl:hasDbXref OMIM:617604 semapv:UnspecifiedMatching DOID:0081431 microcephaly, short stature, and limb abnormalities oboInOwl:hasDbXref ORDO:572761 semapv:UnspecifiedMatching -DOID:0081431 microcephaly, short stature, and limb abnormalities skos:exactMatch OMIM:617604 semapv:UnspecifiedMatching -DOID:0081432 microcephaly-micromelia syndrome oboInOwl:hasDbXref OMIM:251230 semapv:UnspecifiedMatching DOID:0081432 microcephaly-micromelia syndrome oboInOwl:hasDbXref ORDO:572768 semapv:UnspecifiedMatching -DOID:0081432 microcephaly-micromelia syndrome skos:exactMatch OMIM:251230 semapv:UnspecifiedMatching -DOID:0081433 Peroxisome biogenesis disorder 4B oboInOwl:hasDbXref OMIM:614863 semapv:UnspecifiedMatching -DOID:0081433 Peroxisome biogenesis disorder 4B skos:exactMatch OMIM:614863 semapv:UnspecifiedMatching -DOID:0081434 Peroxisome biogenesis disorder 5B oboInOwl:hasDbXref OMIM:614867 semapv:UnspecifiedMatching -DOID:0081434 Peroxisome biogenesis disorder 5B skos:exactMatch OMIM:614867 semapv:UnspecifiedMatching -DOID:0081435 Peroxisome biogenesis disorder 6B oboInOwl:hasDbXref OMIM:614871 semapv:UnspecifiedMatching -DOID:0081435 Peroxisome biogenesis disorder 6B skos:exactMatch OMIM:614871 semapv:UnspecifiedMatching -DOID:0081436 Peroxisome biogenesis disorder 7B oboInOwl:hasDbXref OMIM:614873 semapv:UnspecifiedMatching -DOID:0081436 Peroxisome biogenesis disorder 7B skos:exactMatch OMIM:614873 semapv:UnspecifiedMatching -DOID:0081437 Peroxisome biogenesis disorder 8B oboInOwl:hasDbXref OMIM:614877 semapv:UnspecifiedMatching -DOID:0081437 Peroxisome biogenesis disorder 8B skos:exactMatch OMIM:614877 semapv:UnspecifiedMatching -DOID:0081438 Peroxisome biogenesis disorder 9B oboInOwl:hasDbXref OMIM:614879 semapv:UnspecifiedMatching -DOID:0081438 Peroxisome biogenesis disorder 9B skos:exactMatch OMIM:614879 semapv:UnspecifiedMatching -DOID:0081439 Peroxisome biogenesis disorder 11B oboInOwl:hasDbXref OMIM:614885 semapv:UnspecifiedMatching -DOID:0081439 Peroxisome biogenesis disorder 11B skos:exactMatch OMIM:614885 semapv:UnspecifiedMatching -DOID:0081440 Peroxisome biogenesis disorder 10B oboInOwl:hasDbXref OMIM:617370 semapv:UnspecifiedMatching -DOID:0081440 Peroxisome biogenesis disorder 10B skos:exactMatch OMIM:617370 semapv:UnspecifiedMatching DOID:0081441 Nicolaides-Baraitser syndrome oboInOwl:hasDbXref GARD:270 semapv:UnspecifiedMatching -DOID:0081441 Nicolaides-Baraitser syndrome oboInOwl:hasDbXref OMIM:601358 semapv:UnspecifiedMatching DOID:0081441 Nicolaides-Baraitser syndrome oboInOwl:hasDbXref ORDO:3051 semapv:UnspecifiedMatching -DOID:0081441 Nicolaides-Baraitser syndrome skos:exactMatch OMIM:601358 semapv:UnspecifiedMatching -DOID:0081442 blepharophimosis-impaired intellectual development syndrome oboInOwl:hasDbXref OMIM:619293 semapv:UnspecifiedMatching DOID:0081442 blepharophimosis-impaired intellectual development syndrome oboInOwl:hasDbXref ORDO:637013 semapv:UnspecifiedMatching -DOID:0081442 blepharophimosis-impaired intellectual development syndrome skos:exactMatch OMIM:619293 semapv:UnspecifiedMatching -DOID:0081443 Stolerman neurodevelopmental syndrome oboInOwl:hasDbXref OMIM:618505 semapv:UnspecifiedMatching -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:0081453 Dent disease 1 oboInOwl:hasDbXref MESH:C538212 semapv:UnspecifiedMatching +DOID:0081453 Dent disease 1 oboInOwl:hasDbXref ORDO:93622 semapv:UnspecifiedMatching +DOID:0081453 Dent disease 1 oboInOwl:hasDbXref UMLS:C1848336 semapv:UnspecifiedMatching +DOID:0081454 Dent disease 2 oboInOwl:hasDbXref MESH:C564487 semapv:UnspecifiedMatching +DOID:0081454 Dent disease 2 oboInOwl:hasDbXref UMLS:C1845167 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 -DOID:0090001 Fraser syndrome oboInOwl:hasDbXref OMIMPS:219000 semapv:UnspecifiedMatching DOID:0090001 Fraser syndrome oboInOwl:hasDbXref ORDO:2052 semapv:UnspecifiedMatching -DOID:0090001 Fraser syndrome skos:exactMatch OMIMPS:219000 semapv:UnspecifiedMatching DOID:0090002 Tietz syndrome oboInOwl:hasDbXref GARD:7772 semapv:UnspecifiedMatching DOID:0090002 Tietz syndrome oboInOwl:hasDbXref MESH:C536919 semapv:UnspecifiedMatching -DOID:0090002 Tietz syndrome oboInOwl:hasDbXref OMIM:103500 semapv:UnspecifiedMatching DOID:0090002 Tietz syndrome oboInOwl:hasDbXref ORDO:42665 semapv:UnspecifiedMatching -DOID:0090002 Tietz syndrome skos:exactMatch OMIM:103500 semapv:UnspecifiedMatching DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching -DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy oboInOwl:hasDbXref OMIM:218000 semapv:UnspecifiedMatching DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy oboInOwl:hasDbXref ORDO:1496 semapv:UnspecifiedMatching -DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy skos:exactMatch OMIM:218000 semapv:UnspecifiedMatching DOID:0090004 progressive pseudorheumatoid arthropathy of childhood oboInOwl:hasDbXref ICD10CM:Q77.7 semapv:UnspecifiedMatching -DOID:0090004 progressive pseudorheumatoid arthropathy of childhood oboInOwl:hasDbXref OMIM:208230 semapv:UnspecifiedMatching DOID:0090004 progressive pseudorheumatoid arthropathy of childhood oboInOwl:hasDbXref ORDO:1159 semapv:UnspecifiedMatching -DOID:0090004 progressive pseudorheumatoid arthropathy of childhood skos:exactMatch OMIM:208230 semapv:UnspecifiedMatching DOID:0090005 Schwartz-Jampel syndrome 1 oboInOwl:hasDbXref GARD:250 semapv:UnspecifiedMatching DOID:0090005 Schwartz-Jampel syndrome 1 oboInOwl:hasDbXref ICD10CM:G71.1 semapv:UnspecifiedMatching -DOID:0090005 Schwartz-Jampel syndrome 1 oboInOwl:hasDbXref OMIM:255800 semapv:UnspecifiedMatching DOID:0090005 Schwartz-Jampel syndrome 1 oboInOwl:hasDbXref ORDO:800 semapv:UnspecifiedMatching -DOID:0090005 Schwartz-Jampel syndrome 1 skos:exactMatch OMIM:255800 semapv:UnspecifiedMatching DOID:0090006 renal coloboma syndrome oboInOwl:hasDbXref GARD:4106 semapv:UnspecifiedMatching DOID:0090006 renal coloboma syndrome oboInOwl:hasDbXref ICD10CM:Q60.4 semapv:UnspecifiedMatching -DOID:0090006 renal coloboma syndrome oboInOwl:hasDbXref OMIM:120330 semapv:UnspecifiedMatching DOID:0090006 renal coloboma syndrome oboInOwl:hasDbXref ORDO:1475 semapv:UnspecifiedMatching -DOID:0090006 renal coloboma syndrome skos:exactMatch OMIM:120330 semapv:UnspecifiedMatching DOID:0090007 immunodeficiency-centromeric instability-facial anomalies syndrome oboInOwl:hasDbXref ICD10CM:D84.8 semapv:UnspecifiedMatching -DOID:0090007 immunodeficiency-centromeric instability-facial anomalies syndrome oboInOwl:hasDbXref OMIMPS:242860 semapv:UnspecifiedMatching DOID:0090007 immunodeficiency-centromeric instability-facial anomalies syndrome oboInOwl:hasDbXref ORDO:2268 semapv:UnspecifiedMatching -DOID:0090007 immunodeficiency-centromeric instability-facial anomalies syndrome skos:exactMatch OMIMPS:242860 semapv:UnspecifiedMatching DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 oboInOwl:hasDbXref ICD10CM:D84.8 semapv:UnspecifiedMatching -DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 oboInOwl:hasDbXref OMIM:242860 semapv:UnspecifiedMatching -DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 skos:exactMatch OMIM:242860 semapv:UnspecifiedMatching DOID:0090009 immunodeficiency-centromeric instability-facial anomalies syndrome 2 oboInOwl:hasDbXref ICD10CM:D84.8 semapv:UnspecifiedMatching -DOID:0090009 immunodeficiency-centromeric instability-facial anomalies syndrome 2 oboInOwl:hasDbXref OMIM:614069 semapv:UnspecifiedMatching -DOID:0090009 immunodeficiency-centromeric instability-facial anomalies syndrome 2 skos:exactMatch OMIM:614069 semapv:UnspecifiedMatching DOID:0090010 immunodeficiency-centromeric instability-facial anomalies syndrome 3 oboInOwl:hasDbXref ICD10CM:D84.8 semapv:UnspecifiedMatching -DOID:0090010 immunodeficiency-centromeric instability-facial anomalies syndrome 3 oboInOwl:hasDbXref OMIM:616910 semapv:UnspecifiedMatching -DOID:0090010 immunodeficiency-centromeric instability-facial anomalies syndrome 3 skos:exactMatch OMIM:616910 semapv:UnspecifiedMatching DOID:0090011 immunodeficiency-centromeric instability-facial anomalies syndrome 4 oboInOwl:hasDbXref ICD10CM:D84.8 semapv:UnspecifiedMatching -DOID:0090011 immunodeficiency-centromeric instability-facial anomalies syndrome 4 oboInOwl:hasDbXref OMIM:616911 semapv:UnspecifiedMatching -DOID:0090011 immunodeficiency-centromeric instability-facial anomalies syndrome 4 skos:exactMatch OMIM:616911 semapv:UnspecifiedMatching DOID:0090012 severe combined immunodeficiency with sensitivity to ionizing radiation oboInOwl:hasDbXref ICD10CM:D81.1 semapv:UnspecifiedMatching DOID:0090012 severe combined immunodeficiency with sensitivity to ionizing radiation oboInOwl:hasDbXref MESH:C537589 semapv:UnspecifiedMatching -DOID:0090012 severe combined immunodeficiency with sensitivity to ionizing radiation oboInOwl:hasDbXref OMIM:602450 semapv:UnspecifiedMatching DOID:0090012 severe combined immunodeficiency with sensitivity to ionizing radiation oboInOwl:hasDbXref ORDO:275 semapv:UnspecifiedMatching -DOID:0090012 severe combined immunodeficiency with sensitivity to ionizing radiation skos:exactMatch OMIM:602450 semapv:UnspecifiedMatching DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive oboInOwl:hasDbXref ICD10CM:D81.1 semapv:UnspecifiedMatching DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive oboInOwl:hasDbXref MESH:C563311 semapv:UnspecifiedMatching -DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive oboInOwl:hasDbXref OMIM:601457 semapv:UnspecifiedMatching DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive oboInOwl:hasDbXref ORDO:331206 semapv:UnspecifiedMatching -DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive skos:exactMatch OMIM:601457 semapv:UnspecifiedMatching DOID:0090014 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive oboInOwl:hasDbXref ICD10CM:D81.2 semapv:UnspecifiedMatching DOID:0090014 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive oboInOwl:hasDbXref MESH:C563822 semapv:UnspecifiedMatching -DOID:0090014 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive oboInOwl:hasDbXref OMIM:608971 semapv:UnspecifiedMatching DOID:0090014 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive oboInOwl:hasDbXref ORDO:169154 semapv:UnspecifiedMatching -DOID:0090014 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive skos:exactMatch OMIM:608971 semapv:UnspecifiedMatching DOID:0090015 Cenani-Lenz syndactyly syndrome oboInOwl:hasDbXref GARD:5084 semapv:UnspecifiedMatching DOID:0090015 Cenani-Lenz syndactyly syndrome oboInOwl:hasDbXref ICD10CM:Q78.4 semapv:UnspecifiedMatching -DOID:0090015 Cenani-Lenz syndactyly syndrome oboInOwl:hasDbXref OMIM:212780 semapv:UnspecifiedMatching DOID:0090015 Cenani-Lenz syndactyly syndrome oboInOwl:hasDbXref ORDO:3258 semapv:UnspecifiedMatching -DOID:0090015 Cenani-Lenz syndactyly syndrome skos:exactMatch OMIM:212780 semapv:UnspecifiedMatching DOID:0090016 chromosome 5q deletion syndrome oboInOwl:hasDbXref GARD:10840 semapv:UnspecifiedMatching DOID:0090016 chromosome 5q deletion syndrome oboInOwl:hasDbXref ICD10CM:D46.7 semapv:UnspecifiedMatching DOID:0090016 chromosome 5q deletion syndrome oboInOwl:hasDbXref MESH:C535323 semapv:UnspecifiedMatching -DOID:0090016 chromosome 5q deletion syndrome oboInOwl:hasDbXref OMIM:153550 semapv:UnspecifiedMatching DOID:0090016 chromosome 5q deletion syndrome oboInOwl:hasDbXref ORDO:86841 semapv:UnspecifiedMatching -DOID:0090016 chromosome 5q deletion syndrome skos:exactMatch OMIM:153550 semapv:UnspecifiedMatching DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy oboInOwl:hasDbXref ICD10CM:Q81.0 semapv:UnspecifiedMatching -DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy oboInOwl:hasDbXref OMIM:226670 semapv:UnspecifiedMatching DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy oboInOwl:hasDbXref ORDO:257 semapv:UnspecifiedMatching -DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy skos:exactMatch OMIM:226670 semapv:UnspecifiedMatching DOID:0090018 autosomal dominant familial periodic fever oboInOwl:hasDbXref GARD:8457 semapv:UnspecifiedMatching DOID:0090018 autosomal dominant familial periodic fever oboInOwl:hasDbXref ICD10CM:E85.0 semapv:UnspecifiedMatching -DOID:0090018 autosomal dominant familial periodic fever oboInOwl:hasDbXref OMIM:142680 semapv:UnspecifiedMatching DOID:0090018 autosomal dominant familial periodic fever oboInOwl:hasDbXref ORDO:32960 semapv:UnspecifiedMatching -DOID:0090018 autosomal dominant familial periodic fever skos:exactMatch OMIM:142680 semapv:UnspecifiedMatching DOID:0090019 sitosterolemia oboInOwl:hasDbXref GARD:7653 semapv:UnspecifiedMatching DOID:0090019 sitosterolemia oboInOwl:hasDbXref MESH:C537345 semapv:UnspecifiedMatching DOID:0090019 sitosterolemia oboInOwl:hasDbXref NCI:C125694 semapv:UnspecifiedMatching -DOID:0090019 sitosterolemia oboInOwl:hasDbXref OMIM:210250 semapv:UnspecifiedMatching DOID:0090019 sitosterolemia oboInOwl:hasDbXref ORDO:2882 semapv:UnspecifiedMatching DOID:0090019 sitosterolemia oboInOwl:hasDbXref UMLS:C0342907 semapv:UnspecifiedMatching -DOID:0090019 sitosterolemia skos:exactMatch OMIM:210250 semapv:UnspecifiedMatching DOID:0090020 split hand-foot malformation oboInOwl:hasDbXref GARD:6319 semapv:UnspecifiedMatching DOID:0090020 split hand-foot malformation oboInOwl:hasDbXref MESH:C574275 semapv:UnspecifiedMatching DOID:0090020 split hand-foot malformation oboInOwl:hasDbXref NCI:C75000 semapv:UnspecifiedMatching -DOID:0090020 split hand-foot malformation oboInOwl:hasDbXref OMIMPS:183600 semapv:UnspecifiedMatching DOID:0090020 split hand-foot malformation oboInOwl:hasDbXref ORDO:2440 semapv:UnspecifiedMatching DOID:0090020 split hand-foot malformation oboInOwl:hasDbXref UMLS:C0265554 semapv:UnspecifiedMatching -DOID:0090020 split hand-foot malformation skos:exactMatch OMIMPS:183600 semapv:UnspecifiedMatching DOID:0090021 split hand-foot malformation 1 oboInOwl:hasDbXref ICD10CM:Q71.6 semapv:UnspecifiedMatching -DOID:0090021 split hand-foot malformation 1 oboInOwl:hasDbXref OMIM:183600 semapv:UnspecifiedMatching DOID:0090021 split hand-foot malformation 1 oboInOwl:hasDbXref ORDO:2440 semapv:UnspecifiedMatching -DOID:0090021 split hand-foot malformation 1 skos:exactMatch OMIM:183600 semapv:UnspecifiedMatching DOID:0090022 split hand-foot malformation 5 oboInOwl:hasDbXref MESH:C574275 semapv:UnspecifiedMatching DOID:0090022 split hand-foot malformation 5 oboInOwl:hasDbXref NCI:C75000 semapv:UnspecifiedMatching -DOID:0090022 split hand-foot malformation 5 oboInOwl:hasDbXref OMIM:606708 semapv:UnspecifiedMatching DOID:0090022 split hand-foot malformation 5 oboInOwl:hasDbXref ORDO:2440 semapv:UnspecifiedMatching DOID:0090022 split hand-foot malformation 5 oboInOwl:hasDbXref UMLS:C0265554 semapv:UnspecifiedMatching -DOID:0090022 split hand-foot malformation 5 skos:exactMatch OMIM:606708 semapv:UnspecifiedMatching DOID:0090023 split hand-foot malformation 4 oboInOwl:hasDbXref MESH:C574275 semapv:UnspecifiedMatching DOID:0090023 split hand-foot malformation 4 oboInOwl:hasDbXref NCI:C75000 semapv:UnspecifiedMatching -DOID:0090023 split hand-foot malformation 4 oboInOwl:hasDbXref OMIM:605289 semapv:UnspecifiedMatching DOID:0090023 split hand-foot malformation 4 oboInOwl:hasDbXref ORDO:2440 semapv:UnspecifiedMatching DOID:0090023 split hand-foot malformation 4 oboInOwl:hasDbXref UMLS:C0265554 semapv:UnspecifiedMatching -DOID:0090023 split hand-foot malformation 4 skos:exactMatch OMIM:605289 semapv:UnspecifiedMatching DOID:0090024 split hand-foot malformation 1 with sensorineural hearing loss oboInOwl:hasDbXref ICD10CM:Q87.2 semapv:UnspecifiedMatching -DOID:0090024 split hand-foot malformation 1 with sensorineural hearing loss oboInOwl:hasDbXref OMIM:220600 semapv:UnspecifiedMatching DOID:0090024 split hand-foot malformation 1 with sensorineural hearing loss oboInOwl:hasDbXref ORDO:71271 semapv:UnspecifiedMatching -DOID:0090024 split hand-foot malformation 1 with sensorineural hearing loss skos:exactMatch OMIM:220600 semapv:UnspecifiedMatching DOID:0090025 split hand-foot malformation 3 oboInOwl:hasDbXref MESH:C574275 semapv:UnspecifiedMatching DOID:0090025 split hand-foot malformation 3 oboInOwl:hasDbXref NCI:C75000 semapv:UnspecifiedMatching -DOID:0090025 split hand-foot malformation 3 oboInOwl:hasDbXref OMIM:246560 semapv:UnspecifiedMatching DOID:0090025 split hand-foot malformation 3 oboInOwl:hasDbXref ORDO:2440 semapv:UnspecifiedMatching DOID:0090025 split hand-foot malformation 3 oboInOwl:hasDbXref UMLS:C0265554 semapv:UnspecifiedMatching -DOID:0090025 split hand-foot malformation 3 skos:exactMatch OMIM:246560 semapv:UnspecifiedMatching DOID:0090026 split hand-foot malformation 6 oboInOwl:hasDbXref MESH:C574275 semapv:UnspecifiedMatching DOID:0090026 split hand-foot malformation 6 oboInOwl:hasDbXref NCI:C75000 semapv:UnspecifiedMatching -DOID:0090026 split hand-foot malformation 6 oboInOwl:hasDbXref OMIM:225300 semapv:UnspecifiedMatching DOID:0090026 split hand-foot malformation 6 oboInOwl:hasDbXref ORDO:2440 semapv:UnspecifiedMatching DOID:0090026 split hand-foot malformation 6 oboInOwl:hasDbXref UMLS:C0265554 semapv:UnspecifiedMatching -DOID:0090026 split hand-foot malformation 6 skos:exactMatch OMIM:225300 semapv:UnspecifiedMatching DOID:0090027 split hand-foot malformation 2 oboInOwl:hasDbXref MESH:C574275 semapv:UnspecifiedMatching DOID:0090027 split hand-foot malformation 2 oboInOwl:hasDbXref NCI:C75000 semapv:UnspecifiedMatching -DOID:0090027 split hand-foot malformation 2 oboInOwl:hasDbXref OMIM:313350 semapv:UnspecifiedMatching DOID:0090027 split hand-foot malformation 2 oboInOwl:hasDbXref ORDO:2440 semapv:UnspecifiedMatching DOID:0090027 split hand-foot malformation 2 oboInOwl:hasDbXref UMLS:C0265554 semapv:UnspecifiedMatching -DOID:0090027 split hand-foot malformation 2 skos:exactMatch OMIM:313350 semapv:UnspecifiedMatching DOID:0090028 familial isolated deficiency of vitamin E oboInOwl:hasDbXref MESH:C535393 semapv:UnspecifiedMatching DOID:0090028 familial isolated deficiency of vitamin E oboInOwl:hasDbXref NCI:C155996 semapv:UnspecifiedMatching -DOID:0090028 familial isolated deficiency of vitamin E oboInOwl:hasDbXref OMIM:277460 semapv:UnspecifiedMatching DOID:0090028 familial isolated deficiency of vitamin E oboInOwl:hasDbXref ORDO:96 semapv:UnspecifiedMatching DOID:0090028 familial isolated deficiency of vitamin E oboInOwl:hasDbXref UMLS:C1848533 semapv:UnspecifiedMatching -DOID:0090028 familial isolated deficiency of vitamin E skos:exactMatch OMIM:277460 semapv:UnspecifiedMatching DOID:0090029 CINCA Syndrome oboInOwl:hasDbXref ICD10CM:E85.0 semapv:UnspecifiedMatching -DOID:0090029 CINCA Syndrome oboInOwl:hasDbXref OMIM:607115 semapv:UnspecifiedMatching DOID:0090029 CINCA Syndrome oboInOwl:hasDbXref ORDO:1451 semapv:UnspecifiedMatching -DOID:0090029 CINCA Syndrome skos:exactMatch OMIM:607115 semapv:UnspecifiedMatching DOID:0090030 corticosteroid-binding globulin deficiency oboInOwl:hasDbXref GARD:13101 semapv:UnspecifiedMatching DOID:0090030 corticosteroid-binding globulin deficiency oboInOwl:hasDbXref ICD10CM:E27.8 semapv:UnspecifiedMatching DOID:0090030 corticosteroid-binding globulin deficiency oboInOwl:hasDbXref MESH:C565152 semapv:UnspecifiedMatching -DOID:0090030 corticosteroid-binding globulin deficiency oboInOwl:hasDbXref OMIM:611489 semapv:UnspecifiedMatching DOID:0090030 corticosteroid-binding globulin deficiency oboInOwl:hasDbXref ORDO:199247 semapv:UnspecifiedMatching -DOID:0090030 corticosteroid-binding globulin deficiency skos:exactMatch OMIM:611489 semapv:UnspecifiedMatching DOID:0090031 D-bifunctional protein deficiency oboInOwl:hasDbXref GARD:4539 semapv:UnspecifiedMatching DOID:0090031 D-bifunctional protein deficiency oboInOwl:hasDbXref ICD10CM:E71.3 semapv:UnspecifiedMatching -DOID:0090031 D-bifunctional protein deficiency oboInOwl:hasDbXref OMIM:261515 semapv:UnspecifiedMatching DOID:0090031 D-bifunctional protein deficiency oboInOwl:hasDbXref ORDO:300 semapv:UnspecifiedMatching -DOID:0090031 D-bifunctional protein deficiency skos:exactMatch OMIM:261515 semapv:UnspecifiedMatching DOID:0090032 Silverman-Handmaker type dyssegmental dysplasia oboInOwl:hasDbXref ICD10CM:Q77.7 semapv:UnspecifiedMatching -DOID:0090032 Silverman-Handmaker type dyssegmental dysplasia oboInOwl:hasDbXref OMIM:224410 semapv:UnspecifiedMatching DOID:0090032 Silverman-Handmaker type dyssegmental dysplasia oboInOwl:hasDbXref ORDO:1865 semapv:UnspecifiedMatching -DOID:0090032 Silverman-Handmaker type dyssegmental dysplasia skos:exactMatch OMIM:224410 semapv:UnspecifiedMatching DOID:0090033 myoclonic dystonia oboInOwl:hasDbXref MESH:C536096 semapv:UnspecifiedMatching DOID:0090034 myoclonic dystonia 11 oboInOwl:hasDbXref ICD10CM:G24.1 semapv:UnspecifiedMatching -DOID:0090034 myoclonic dystonia 11 oboInOwl:hasDbXref OMIM:159900 semapv:UnspecifiedMatching DOID:0090034 myoclonic dystonia 11 oboInOwl:hasDbXref ORDO:36899 semapv:UnspecifiedMatching -DOID:0090034 myoclonic dystonia 11 skos:exactMatch OMIM:159900 semapv:UnspecifiedMatching -DOID:0090035 myoclonic dystonia 15 oboInOwl:hasDbXref OMIM:607488 semapv:UnspecifiedMatching DOID:0090035 myoclonic dystonia 15 oboInOwl:hasDbXref ORDO:210566 semapv:UnspecifiedMatching -DOID:0090035 myoclonic dystonia 15 skos:exactMatch OMIM:607488 semapv:UnspecifiedMatching -DOID:0090036 myoclonic dystonia 26 oboInOwl:hasDbXref OMIM:616398 semapv:UnspecifiedMatching -DOID:0090036 myoclonic dystonia 26 skos:exactMatch OMIM:616398 semapv:UnspecifiedMatching DOID:0090037 torsion dystonia 13 oboInOwl:hasDbXref ICD10CM:G24.1 semapv:UnspecifiedMatching -DOID:0090037 torsion dystonia 13 oboInOwl:hasDbXref OMIM:607671 semapv:UnspecifiedMatching DOID:0090037 torsion dystonia 13 oboInOwl:hasDbXref ORDO:98807 semapv:UnspecifiedMatching -DOID:0090037 torsion dystonia 13 skos:exactMatch OMIM:607671 semapv:UnspecifiedMatching DOID:0090038 torsion dystonia 2 oboInOwl:hasDbXref ICD10CM:G24.1 semapv:UnspecifiedMatching -DOID:0090038 torsion dystonia 2 oboInOwl:hasDbXref OMIM:224500 semapv:UnspecifiedMatching DOID:0090038 torsion dystonia 2 oboInOwl:hasDbXref ORDO:99657 semapv:UnspecifiedMatching -DOID:0090038 torsion dystonia 2 skos:exactMatch OMIM:224500 semapv:UnspecifiedMatching DOID:0090039 torsion dystonia 6 oboInOwl:hasDbXref ICD10CM:G24.1 semapv:UnspecifiedMatching -DOID:0090039 torsion dystonia 6 oboInOwl:hasDbXref OMIM:602629 semapv:UnspecifiedMatching DOID:0090039 torsion dystonia 6 oboInOwl:hasDbXref ORDO:98806 semapv:UnspecifiedMatching -DOID:0090039 torsion dystonia 6 skos:exactMatch OMIM:602629 semapv:UnspecifiedMatching -DOID:0090040 torsion dystonia 7 oboInOwl:hasDbXref OMIM:602124 semapv:UnspecifiedMatching -DOID:0090040 torsion dystonia 7 skos:exactMatch OMIM:602124 semapv:UnspecifiedMatching DOID:0090041 torsion dystonia 4 oboInOwl:hasDbXref ICD10CM:G24.1 semapv:UnspecifiedMatching -DOID:0090041 torsion dystonia 4 oboInOwl:hasDbXref OMIM:128101 semapv:UnspecifiedMatching DOID:0090041 torsion dystonia 4 oboInOwl:hasDbXref ORDO:98805 semapv:UnspecifiedMatching -DOID:0090041 torsion dystonia 4 skos:exactMatch OMIM:128101 semapv:UnspecifiedMatching DOID:0090042 torsion dystonia 17 oboInOwl:hasDbXref ICD10CM:G24.1 semapv:UnspecifiedMatching -DOID:0090042 torsion dystonia 17 oboInOwl:hasDbXref OMIM:612406 semapv:UnspecifiedMatching DOID:0090042 torsion dystonia 17 oboInOwl:hasDbXref ORDO:370103 semapv:UnspecifiedMatching -DOID:0090042 torsion dystonia 17 skos:exactMatch OMIM:612406 semapv:UnspecifiedMatching DOID:0090043 dystonia 5 oboInOwl:hasDbXref ICD10CM:G24.1 semapv:UnspecifiedMatching -DOID:0090043 dystonia 5 oboInOwl:hasDbXref OMIM:128230 semapv:UnspecifiedMatching DOID:0090043 dystonia 5 oboInOwl:hasDbXref ORDO:98808 semapv:UnspecifiedMatching -DOID:0090043 dystonia 5 skos:exactMatch OMIM:128230 semapv:UnspecifiedMatching DOID:0090044 dystonia 9 oboInOwl:hasDbXref ICD10CM:G24.8 semapv:UnspecifiedMatching -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: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 -DOID:0090046 dystonia 21 skos:exactMatch OMIM:614588 semapv:UnspecifiedMatching DOID:0090047 paroxysmal nonkinesigenic dyskinesia 2 oboInOwl:hasDbXref ICD10CM:G24.8 semapv:UnspecifiedMatching DOID:0090047 paroxysmal nonkinesigenic dyskinesia 2 oboInOwl:hasDbXref MESH:C567001 semapv:UnspecifiedMatching -DOID:0090047 paroxysmal nonkinesigenic dyskinesia 2 oboInOwl:hasDbXref OMIM:611147 semapv:UnspecifiedMatching DOID:0090047 paroxysmal nonkinesigenic dyskinesia 2 oboInOwl:hasDbXref ORDO:98810 semapv:UnspecifiedMatching -DOID:0090047 paroxysmal nonkinesigenic dyskinesia 2 skos:exactMatch OMIM:611147 semapv:UnspecifiedMatching DOID:0090048 dystonia 16 oboInOwl:hasDbXref GARD:10539 semapv:UnspecifiedMatching DOID:0090048 dystonia 16 oboInOwl:hasDbXref ICD10CM:G24.1 semapv:UnspecifiedMatching DOID:0090048 dystonia 16 oboInOwl:hasDbXref MESH:C567430 semapv:UnspecifiedMatching -DOID:0090048 dystonia 16 oboInOwl:hasDbXref OMIM:612067 semapv:UnspecifiedMatching DOID:0090048 dystonia 16 oboInOwl:hasDbXref ORDO:210571 semapv:UnspecifiedMatching -DOID:0090048 dystonia 16 skos:exactMatch OMIM:612067 semapv:UnspecifiedMatching DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 oboInOwl:hasDbXref ICD10CM:G24.8 semapv:UnspecifiedMatching -DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 oboInOwl:hasDbXref OMIM:118800 semapv:UnspecifiedMatching DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 oboInOwl:hasDbXref ORDO:98810 semapv:UnspecifiedMatching -DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 skos:exactMatch OMIM:118800 semapv:UnspecifiedMatching DOID:0090050 dystonia 27 oboInOwl:hasDbXref ICD10CM:G24.1 semapv:UnspecifiedMatching -DOID:0090050 dystonia 27 oboInOwl:hasDbXref OMIM:616411 semapv:UnspecifiedMatching DOID:0090050 dystonia 27 oboInOwl:hasDbXref ORDO:464440 semapv:UnspecifiedMatching -DOID:0090050 dystonia 27 skos:exactMatch OMIM:616411 semapv:UnspecifiedMatching DOID:0090051 dystonia 23 oboInOwl:hasDbXref ICD10CM:G24.8 semapv:UnspecifiedMatching -DOID:0090051 dystonia 23 oboInOwl:hasDbXref OMIM:614860 semapv:UnspecifiedMatching DOID:0090051 dystonia 23 oboInOwl:hasDbXref ORDO:420492 semapv:UnspecifiedMatching -DOID:0090051 dystonia 23 skos:exactMatch OMIM:614860 semapv:UnspecifiedMatching DOID:0090052 dystonia 24 oboInOwl:hasDbXref ICD10CM:G24.8 semapv:UnspecifiedMatching -DOID:0090052 dystonia 24 oboInOwl:hasDbXref OMIM:615034 semapv:UnspecifiedMatching DOID:0090052 dystonia 24 oboInOwl:hasDbXref ORDO:420485 semapv:UnspecifiedMatching -DOID:0090052 dystonia 24 skos:exactMatch OMIM:615034 semapv:UnspecifiedMatching DOID:0090053 episodic kinesigenic dyskinesia 1 oboInOwl:hasDbXref GARD:8721 semapv:UnspecifiedMatching DOID:0090053 episodic kinesigenic dyskinesia 1 oboInOwl:hasDbXref ICD10CM:G24.8 semapv:UnspecifiedMatching -DOID:0090053 episodic kinesigenic dyskinesia 1 oboInOwl:hasDbXref OMIM:128200 semapv:UnspecifiedMatching DOID:0090053 episodic kinesigenic dyskinesia 1 oboInOwl:hasDbXref ORDO:98809 semapv:UnspecifiedMatching -DOID:0090053 episodic kinesigenic dyskinesia 1 skos:exactMatch OMIM:128200 semapv:UnspecifiedMatching DOID:0090054 episodic kinesigenic dyskinesia 2 oboInOwl:hasDbXref ICD10CM:G24.8 semapv:UnspecifiedMatching DOID:0090054 episodic kinesigenic dyskinesia 2 oboInOwl:hasDbXref MESH:C567026 semapv:UnspecifiedMatching -DOID:0090054 episodic kinesigenic dyskinesia 2 oboInOwl:hasDbXref OMIM:611031 semapv:UnspecifiedMatching DOID:0090054 episodic kinesigenic dyskinesia 2 oboInOwl:hasDbXref ORDO:98809 semapv:UnspecifiedMatching -DOID:0090054 episodic kinesigenic dyskinesia 2 skos:exactMatch OMIM:611031 semapv:UnspecifiedMatching DOID:0090055 dystonia 25 oboInOwl:hasDbXref ICD10CM:G24.1 semapv:UnspecifiedMatching -DOID:0090055 dystonia 25 oboInOwl:hasDbXref OMIM:615073 semapv:UnspecifiedMatching DOID:0090055 dystonia 25 oboInOwl:hasDbXref ORDO:329466 semapv:UnspecifiedMatching -DOID:0090055 dystonia 25 skos:exactMatch OMIM:615073 semapv:UnspecifiedMatching DOID:0090056 dystonia 12 oboInOwl:hasDbXref ICD10CM:G24.1 semapv:UnspecifiedMatching DOID:0090056 dystonia 12 oboInOwl:hasDbXref MESH:C538001 semapv:UnspecifiedMatching -DOID:0090056 dystonia 12 oboInOwl:hasDbXref OMIM:128235 semapv:UnspecifiedMatching DOID:0090056 dystonia 12 oboInOwl:hasDbXref ORDO:71517 semapv:UnspecifiedMatching -DOID:0090056 dystonia 12 skos:exactMatch OMIM:128235 semapv:UnspecifiedMatching DOID:0090057 X-linked dystonia-parkinsonism oboInOwl:hasDbXref GARD:10533 semapv:UnspecifiedMatching DOID:0090057 X-linked dystonia-parkinsonism oboInOwl:hasDbXref ICD10CM:G24.1 semapv:UnspecifiedMatching -DOID:0090057 X-linked dystonia-parkinsonism oboInOwl:hasDbXref OMIM:314250 semapv:UnspecifiedMatching DOID:0090057 X-linked dystonia-parkinsonism oboInOwl:hasDbXref ORDO:53351 semapv:UnspecifiedMatching -DOID:0090057 X-linked dystonia-parkinsonism skos:exactMatch OMIM:314250 semapv:UnspecifiedMatching DOID:0090058 torsion dystonia with onset in infancy oboInOwl:hasDbXref ICD10CM:G24.1 semapv:UnspecifiedMatching DOID:0090058 torsion dystonia with onset in infancy oboInOwl:hasDbXref MESH:C536969 semapv:UnspecifiedMatching -DOID:0090058 torsion dystonia with onset in infancy oboInOwl:hasDbXref OMIM:602554 semapv:UnspecifiedMatching DOID:0090058 torsion dystonia with onset in infancy oboInOwl:hasDbXref ORDO:256 semapv:UnspecifiedMatching -DOID:0090058 torsion dystonia with onset in infancy skos:exactMatch OMIM:602554 semapv:UnspecifiedMatching DOID:0090059 enhanced S-cone syndrome oboInOwl:hasDbXref MESH:C564835 semapv:UnspecifiedMatching -DOID:0090059 enhanced S-cone syndrome oboInOwl:hasDbXref OMIM:268100 semapv:UnspecifiedMatching -DOID:0090059 enhanced S-cone syndrome skos:exactMatch OMIM:268100 semapv:UnspecifiedMatching DOID:0090060 Wolcott-Rallison syndrome oboInOwl:hasDbXref ICD10CM:E13 semapv:UnspecifiedMatching DOID:0090060 Wolcott-Rallison syndrome oboInOwl:hasDbXref MESH:C536739 semapv:UnspecifiedMatching -DOID:0090060 Wolcott-Rallison syndrome oboInOwl:hasDbXref OMIM:226980 semapv:UnspecifiedMatching DOID:0090060 Wolcott-Rallison syndrome oboInOwl:hasDbXref ORDO:1667 semapv:UnspecifiedMatching -DOID:0090060 Wolcott-Rallison syndrome skos:exactMatch OMIM:226980 semapv:UnspecifiedMatching DOID:0090061 familial cold autoinflammatory syndrome oboInOwl:hasDbXref ICD10CM:L50.2 semapv:UnspecifiedMatching -DOID:0090061 familial cold autoinflammatory syndrome oboInOwl:hasDbXref OMIMPS:120100 semapv:UnspecifiedMatching DOID:0090061 familial cold autoinflammatory syndrome oboInOwl:hasDbXref ORDO:47045 semapv:UnspecifiedMatching -DOID:0090061 familial cold autoinflammatory syndrome skos:exactMatch OMIMPS:120100 semapv:UnspecifiedMatching DOID:0090062 familial cold autoinflammatory syndrome 1 oboInOwl:hasDbXref ICD10CM:L50.2 semapv:UnspecifiedMatching -DOID:0090062 familial cold autoinflammatory syndrome 1 oboInOwl:hasDbXref OMIM:120100 semapv:UnspecifiedMatching DOID:0090062 familial cold autoinflammatory syndrome 1 oboInOwl:hasDbXref ORDO:47045 semapv:UnspecifiedMatching -DOID:0090062 familial cold autoinflammatory syndrome 1 skos:exactMatch OMIM:120100 semapv:UnspecifiedMatching DOID:0090063 familial cold autoinflammatory syndrome 2 oboInOwl:hasDbXref MESH:C567090 semapv:UnspecifiedMatching -DOID:0090063 familial cold autoinflammatory syndrome 2 oboInOwl:hasDbXref OMIM:611762 semapv:UnspecifiedMatching -DOID:0090063 familial cold autoinflammatory syndrome 2 skos:exactMatch OMIM:611762 semapv:UnspecifiedMatching DOID:0090064 familial cold autoinflammatory syndrome 3 oboInOwl:hasDbXref ICD10CM:L50.2 semapv:UnspecifiedMatching -DOID:0090064 familial cold autoinflammatory syndrome 3 oboInOwl:hasDbXref OMIM:614468 semapv:UnspecifiedMatching DOID:0090064 familial cold autoinflammatory syndrome 3 oboInOwl:hasDbXref ORDO:300359 semapv:UnspecifiedMatching -DOID:0090064 familial cold autoinflammatory syndrome 3 skos:exactMatch OMIM:614468 semapv:UnspecifiedMatching DOID:0090065 familial cold autoinflammatory syndrome 4 oboInOwl:hasDbXref ICD10CM:L50.2 semapv:UnspecifiedMatching -DOID:0090065 familial cold autoinflammatory syndrome 4 oboInOwl:hasDbXref OMIM:616115 semapv:UnspecifiedMatching DOID:0090065 familial cold autoinflammatory syndrome 4 oboInOwl:hasDbXref ORDO:47045 semapv:UnspecifiedMatching -DOID:0090065 familial cold autoinflammatory syndrome 4 skos:exactMatch OMIM:616115 semapv:UnspecifiedMatching DOID:0090066 Fanconi-like syndrome oboInOwl:hasDbXref MESH:C536855 semapv:UnspecifiedMatching -DOID:0090066 Fanconi-like syndrome oboInOwl:hasDbXref OMIM:227850 semapv:UnspecifiedMatching -DOID:0090066 Fanconi-like syndrome skos:exactMatch OMIM:227850 semapv:UnspecifiedMatching DOID:0090067 Fuhrmann syndrome oboInOwl:hasDbXref GARD:2410 semapv:UnspecifiedMatching DOID:0090067 Fuhrmann syndrome oboInOwl:hasDbXref ICD10CM:Q74.8 semapv:UnspecifiedMatching DOID:0090067 Fuhrmann syndrome oboInOwl:hasDbXref MESH:C538189 semapv:UnspecifiedMatching -DOID:0090067 Fuhrmann syndrome oboInOwl:hasDbXref OMIM:228930 semapv:UnspecifiedMatching DOID:0090067 Fuhrmann syndrome oboInOwl:hasDbXref ORDO:2854 semapv:UnspecifiedMatching -DOID:0090067 Fuhrmann syndrome skos:exactMatch OMIM:228930 semapv:UnspecifiedMatching DOID:0090068 giant axonal neuropathy 1 oboInOwl:hasDbXref MESH:D056768 semapv:UnspecifiedMatching -DOID:0090068 giant axonal neuropathy 1 oboInOwl:hasDbXref OMIM:256850 semapv:UnspecifiedMatching DOID:0090068 giant axonal neuropathy 1 oboInOwl:hasDbXref ORDO:643 semapv:UnspecifiedMatching -DOID:0090068 giant axonal neuropathy 1 skos:exactMatch OMIM:256850 semapv:UnspecifiedMatching -DOID:0090069 giant axonal neuropathy 2 oboInOwl:hasDbXref OMIM:610100 semapv:UnspecifiedMatching -DOID:0090069 giant axonal neuropathy 2 skos:exactMatch OMIM:610100 semapv:UnspecifiedMatching DOID:0090070 hypogonadotropic hypogonadism oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching -DOID:0090070 hypogonadotropic hypogonadism oboInOwl:hasDbXref OMIMPS:147950 semapv:UnspecifiedMatching DOID:0090070 hypogonadotropic hypogonadism oboInOwl:hasDbXref ORDO:432 semapv:UnspecifiedMatching DOID:0090070 hypogonadotropic hypogonadism oboInOwl:hasDbXref ORDO:478 semapv:UnspecifiedMatching -DOID:0090070 hypogonadotropic hypogonadism skos:exactMatch OMIMPS:147950 semapv:UnspecifiedMatching DOID:0090071 hypogonadotropic hypogonadism 11 with or without anosmia oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching -DOID:0090071 hypogonadotropic hypogonadism 11 with or without anosmia oboInOwl:hasDbXref OMIM:614840 semapv:UnspecifiedMatching -DOID:0090071 hypogonadotropic hypogonadism 11 with or without anosmia skos:exactMatch OMIM:614840 semapv:UnspecifiedMatching DOID:0090072 hypogonadotropic hypogonadism 12 with or without anosmia oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching -DOID:0090072 hypogonadotropic hypogonadism 12 with or without anosmia oboInOwl:hasDbXref OMIM:614841 semapv:UnspecifiedMatching -DOID:0090072 hypogonadotropic hypogonadism 12 with or without anosmia skos:exactMatch OMIM:614841 semapv:UnspecifiedMatching DOID:0090073 hypogonadotropic hypogonadism 13 with or without anosmia oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching -DOID:0090073 hypogonadotropic hypogonadism 13 with or without anosmia oboInOwl:hasDbXref OMIM:614842 semapv:UnspecifiedMatching -DOID:0090073 hypogonadotropic hypogonadism 13 with or without anosmia skos:exactMatch OMIM:614842 semapv:UnspecifiedMatching DOID:0090074 hypogonadotropic hypogonadism 8 with or without anosmia oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching -DOID:0090074 hypogonadotropic hypogonadism 8 with or without anosmia oboInOwl:hasDbXref OMIM:614837 semapv:UnspecifiedMatching -DOID:0090074 hypogonadotropic hypogonadism 8 with or without anosmia skos:exactMatch OMIM:614837 semapv:UnspecifiedMatching DOID:0090075 hypogonadotropic hypogonadism 15 with or without anosmia oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching -DOID:0090075 hypogonadotropic hypogonadism 15 with or without anosmia oboInOwl:hasDbXref OMIM:614880 semapv:UnspecifiedMatching -DOID:0090075 hypogonadotropic hypogonadism 15 with or without anosmia skos:exactMatch OMIM:614880 semapv:UnspecifiedMatching DOID:0090076 hypogonadotropic hypogonadism 18 with or without anosmia oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching -DOID:0090076 hypogonadotropic hypogonadism 18 with or without anosmia oboInOwl:hasDbXref OMIM:615267 semapv:UnspecifiedMatching -DOID:0090076 hypogonadotropic hypogonadism 18 with or without anosmia skos:exactMatch OMIM:615267 semapv:UnspecifiedMatching DOID:0090077 hypogonadotropic hypogonadism 4 with or without anosmia oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching -DOID:0090077 hypogonadotropic hypogonadism 4 with or without anosmia oboInOwl:hasDbXref OMIM:610628 semapv:UnspecifiedMatching -DOID:0090077 hypogonadotropic hypogonadism 4 with or without anosmia skos:exactMatch OMIM:610628 semapv:UnspecifiedMatching DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching -DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia oboInOwl:hasDbXref OMIM:146110 semapv:UnspecifiedMatching -DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia skos:exactMatch OMIM:146110 semapv:UnspecifiedMatching DOID:0090079 hypogonadotropic hypogonadism 17 with or without anosmia oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching -DOID:0090079 hypogonadotropic hypogonadism 17 with or without anosmia oboInOwl:hasDbXref OMIM:615266 semapv:UnspecifiedMatching -DOID:0090079 hypogonadotropic hypogonadism 17 with or without anosmia skos:exactMatch OMIM:615266 semapv:UnspecifiedMatching DOID:0090080 hypogonadotropic hypogonadism 16 with or without anosmia oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching -DOID:0090080 hypogonadotropic hypogonadism 16 with or without anosmia oboInOwl:hasDbXref OMIM:614897 semapv:UnspecifiedMatching -DOID:0090080 hypogonadotropic hypogonadism 16 with or without anosmia skos:exactMatch OMIM:614897 semapv:UnspecifiedMatching DOID:0090081 hypogonadotropic hypogonadism 22 with or without anosmia oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching -DOID:0090081 hypogonadotropic hypogonadism 22 with or without anosmia oboInOwl:hasDbXref OMIM:616030 semapv:UnspecifiedMatching -DOID:0090081 hypogonadotropic hypogonadism 22 with or without anosmia skos:exactMatch OMIM:616030 semapv:UnspecifiedMatching DOID:0090082 hypogonadotropic hypogonadism 20 with or without anosmia oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching -DOID:0090082 hypogonadotropic hypogonadism 20 with or without anosmia oboInOwl:hasDbXref OMIM:615270 semapv:UnspecifiedMatching -DOID:0090082 hypogonadotropic hypogonadism 20 with or without anosmia skos:exactMatch OMIM:615270 semapv:UnspecifiedMatching DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching -DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia oboInOwl:hasDbXref OMIM:147950 semapv:UnspecifiedMatching -DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia skos:exactMatch OMIM:147950 semapv:UnspecifiedMatching DOID:0090084 hypogonadotropic hypogonadism 5 with or without anosmia oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching -DOID:0090084 hypogonadotropic hypogonadism 5 with or without anosmia oboInOwl:hasDbXref OMIM:612370 semapv:UnspecifiedMatching -DOID:0090084 hypogonadotropic hypogonadism 5 with or without anosmia skos:exactMatch OMIM:612370 semapv:UnspecifiedMatching DOID:0090085 hypogonadotropic hypogonadism 9 with or without anosmia oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching -DOID:0090085 hypogonadotropic hypogonadism 9 with or without anosmia oboInOwl:hasDbXref OMIM:614838 semapv:UnspecifiedMatching -DOID:0090085 hypogonadotropic hypogonadism 9 with or without anosmia skos:exactMatch OMIM:614838 semapv:UnspecifiedMatching DOID:0090086 hypogonadotropic hypogonadism 6 with or without anosmia oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching -DOID:0090086 hypogonadotropic hypogonadism 6 with or without anosmia oboInOwl:hasDbXref OMIM:612702 semapv:UnspecifiedMatching -DOID:0090086 hypogonadotropic hypogonadism 6 with or without anosmia skos:exactMatch OMIM:612702 semapv:UnspecifiedMatching DOID:0090087 hypogonadotropic hypogonadism 14 with or without anosmia oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching -DOID:0090087 hypogonadotropic hypogonadism 14 with or without anosmia oboInOwl:hasDbXref OMIM:614858 semapv:UnspecifiedMatching -DOID:0090087 hypogonadotropic hypogonadism 14 with or without anosmia skos:exactMatch OMIM:614858 semapv:UnspecifiedMatching DOID:0090088 hypogonadotropic hypogonadism 24 without anosmia oboInOwl:hasDbXref ICD10CM:E23.6 semapv:UnspecifiedMatching -DOID:0090088 hypogonadotropic hypogonadism 24 without anosmia oboInOwl:hasDbXref OMIM:229070 semapv:UnspecifiedMatching DOID:0090088 hypogonadotropic hypogonadism 24 without anosmia oboInOwl:hasDbXref ORDO:52901 semapv:UnspecifiedMatching -DOID:0090088 hypogonadotropic hypogonadism 24 without anosmia skos:exactMatch OMIM:229070 semapv:UnspecifiedMatching DOID:0090089 hypogonadotropic hypogonadism 10 with or without anosmia oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching -DOID:0090089 hypogonadotropic hypogonadism 10 with or without anosmia oboInOwl:hasDbXref OMIM:614839 semapv:UnspecifiedMatching -DOID:0090089 hypogonadotropic hypogonadism 10 with or without anosmia skos:exactMatch OMIM:614839 semapv:UnspecifiedMatching DOID:0090090 hypogonadotropic hypogonadism 19 with or without anosmia oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching -DOID:0090090 hypogonadotropic hypogonadism 19 with or without anosmia oboInOwl:hasDbXref OMIM:615269 semapv:UnspecifiedMatching -DOID:0090090 hypogonadotropic hypogonadism 19 with or without anosmia skos:exactMatch OMIM:615269 semapv:UnspecifiedMatching DOID:0090091 hypogonadotropic hypogonadism 23 with or without anosmia oboInOwl:hasDbXref ICD10CM:Q56.1 semapv:UnspecifiedMatching -DOID:0090091 hypogonadotropic hypogonadism 23 with or without anosmia oboInOwl:hasDbXref OMIM:228300 semapv:UnspecifiedMatching DOID:0090091 hypogonadotropic hypogonadism 23 with or without anosmia oboInOwl:hasDbXref ORDO:325448 semapv:UnspecifiedMatching -DOID:0090091 hypogonadotropic hypogonadism 23 with or without anosmia skos:exactMatch OMIM:228300 semapv:UnspecifiedMatching DOID:0090092 hypogonadotropic hypogonadism 3 with or without anosmia oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching -DOID:0090092 hypogonadotropic hypogonadism 3 with or without anosmia oboInOwl:hasDbXref OMIM:244200 semapv:UnspecifiedMatching -DOID:0090092 hypogonadotropic hypogonadism 3 with or without anosmia skos:exactMatch OMIM:244200 semapv:UnspecifiedMatching DOID:0090093 hypogonadotropic hypogonadism 21 with or without anosmia oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching -DOID:0090093 hypogonadotropic hypogonadism 21 with or without anosmia oboInOwl:hasDbXref OMIM:615271 semapv:UnspecifiedMatching -DOID:0090093 hypogonadotropic hypogonadism 21 with or without anosmia skos:exactMatch OMIM:615271 semapv:UnspecifiedMatching DOID:0090094 hypogonadotropic hypogonadism 1 with or without anosmia oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching -DOID:0090094 hypogonadotropic hypogonadism 1 with or without anosmia oboInOwl:hasDbXref OMIM:308700 semapv:UnspecifiedMatching -DOID:0090094 hypogonadotropic hypogonadism 1 with or without anosmia skos:exactMatch OMIM:308700 semapv:UnspecifiedMatching DOID:0090100 ocular albinism with sensorineural deafness oboInOwl:hasDbXref ICD10CM:E70.3 semapv:UnspecifiedMatching DOID:0090100 ocular albinism with sensorineural deafness oboInOwl:hasDbXref ORDO:352740 semapv:UnspecifiedMatching DOID:0090101 lethal congenital glycogen storage disease of heart oboInOwl:hasDbXref ICD10CM:E74.0+ semapv:UnspecifiedMatching DOID:0090101 lethal congenital glycogen storage disease of heart oboInOwl:hasDbXref ICD10CM:G73.6* semapv:UnspecifiedMatching -DOID:0090101 lethal congenital glycogen storage disease of heart oboInOwl:hasDbXref OMIM:261740 semapv:UnspecifiedMatching DOID:0090101 lethal congenital glycogen storage disease of heart oboInOwl:hasDbXref ORDO:439854 semapv:UnspecifiedMatching -DOID:0090101 lethal congenital glycogen storage disease of heart skos:exactMatch OMIM:261740 semapv:UnspecifiedMatching DOID:0090102 autosomal dominant macrothrombocytopenia TUBB1-related oboInOwl:hasDbXref ICD10CM:D69.4 semapv:UnspecifiedMatching -DOID:0090102 autosomal dominant macrothrombocytopenia TUBB1-related oboInOwl:hasDbXref OMIM:613112 semapv:UnspecifiedMatching DOID:0090102 autosomal dominant macrothrombocytopenia TUBB1-related oboInOwl:hasDbXref ORDO:140957 semapv:UnspecifiedMatching -DOID:0090102 autosomal dominant macrothrombocytopenia TUBB1-related skos:exactMatch OMIM:613112 semapv:UnspecifiedMatching DOID:0090103 Huntington's disease-like 1 oboInOwl:hasDbXref ICD10CM:G10 semapv:UnspecifiedMatching -DOID:0090103 Huntington's disease-like 1 oboInOwl:hasDbXref OMIM:603218 semapv:UnspecifiedMatching DOID:0090103 Huntington's disease-like 1 oboInOwl:hasDbXref ORDO:157941 semapv:UnspecifiedMatching -DOID:0090103 Huntington's disease-like 1 skos:exactMatch OMIM:603218 semapv:UnspecifiedMatching DOID:0090104 Huntington's disease-like 2 oboInOwl:hasDbXref ICD10CM:G10 semapv:UnspecifiedMatching -DOID:0090104 Huntington's disease-like 2 oboInOwl:hasDbXref OMIM:606438 semapv:UnspecifiedMatching DOID:0090104 Huntington's disease-like 2 oboInOwl:hasDbXref ORDO:98934 semapv:UnspecifiedMatching -DOID:0090104 Huntington's disease-like 2 skos:exactMatch OMIM:606438 semapv:UnspecifiedMatching DOID:0090105 autosomal recessive hypercholesterolemia oboInOwl:hasDbXref ICD10CM:E78.0 semapv:UnspecifiedMatching -DOID:0090105 autosomal recessive hypercholesterolemia oboInOwl:hasDbXref OMIM:603813 semapv:UnspecifiedMatching DOID:0090105 autosomal recessive hypercholesterolemia oboInOwl:hasDbXref ORDO:391665 semapv:UnspecifiedMatching -DOID:0090105 autosomal recessive hypercholesterolemia skos:exactMatch OMIM:603813 semapv:UnspecifiedMatching DOID:0090106 BH4-deficient hyperphenylalaninemia A oboInOwl:hasDbXref GARD:5682 semapv:UnspecifiedMatching DOID:0090106 BH4-deficient hyperphenylalaninemia A oboInOwl:hasDbXref MESH:C535325 semapv:UnspecifiedMatching DOID:0090106 BH4-deficient hyperphenylalaninemia A oboInOwl:hasDbXref NCI:C138171 semapv:UnspecifiedMatching -DOID:0090106 BH4-deficient hyperphenylalaninemia A oboInOwl:hasDbXref OMIM:261640 semapv:UnspecifiedMatching DOID:0090106 BH4-deficient hyperphenylalaninemia A oboInOwl:hasDbXref ORDO:13 semapv:UnspecifiedMatching DOID:0090106 BH4-deficient hyperphenylalaninemia A oboInOwl:hasDbXref UMLS:C0878676 semapv:UnspecifiedMatching -DOID:0090106 BH4-deficient hyperphenylalaninemia A skos:exactMatch OMIM:261640 semapv:UnspecifiedMatching -DOID:0090107 autosomal dominant hypocalcemia 1 oboInOwl:hasDbXref OMIM:601198 semapv:UnspecifiedMatching -DOID:0090107 autosomal dominant hypocalcemia 1 skos:exactMatch OMIM:601198 semapv:UnspecifiedMatching -DOID:0090108 autosomal dominant hypocalcemia 2 oboInOwl:hasDbXref OMIM:615361 semapv:UnspecifiedMatching -DOID:0090108 autosomal dominant hypocalcemia 2 skos:exactMatch OMIM:615361 semapv:UnspecifiedMatching DOID:0090109 autosomal dominant hypocalcemia oboInOwl:hasDbXref GARD:2877 semapv:UnspecifiedMatching DOID:0090109 autosomal dominant hypocalcemia oboInOwl:hasDbXref ICD10CM:E20.8 semapv:UnspecifiedMatching -DOID:0090109 autosomal dominant hypocalcemia oboInOwl:hasDbXref OMIMPS:601198 semapv:UnspecifiedMatching DOID:0090109 autosomal dominant hypocalcemia oboInOwl:hasDbXref ORDO:428 semapv:UnspecifiedMatching -DOID:0090109 autosomal dominant hypocalcemia skos:exactMatch OMIMPS:601198 semapv:UnspecifiedMatching DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome oboInOwl:hasDbXref GARD:1850 semapv:UnspecifiedMatching DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome oboInOwl:hasDbXref ICD10CM:E31.0 semapv:UnspecifiedMatching DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome oboInOwl:hasDbXref MESH:C580192 semapv:UnspecifiedMatching -DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome oboInOwl:hasDbXref OMIM:304790 semapv:UnspecifiedMatching DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome oboInOwl:hasDbXref ORDO:37042 semapv:UnspecifiedMatching -DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:exactMatch OMIM:304790 semapv:UnspecifiedMatching DOID:0090111 PCWH syndrome oboInOwl:hasDbXref ICD10CM:E75.2 semapv:UnspecifiedMatching -DOID:0090111 PCWH syndrome oboInOwl:hasDbXref OMIM:609136 semapv:UnspecifiedMatching DOID:0090111 PCWH syndrome oboInOwl:hasDbXref ORDO:163746 semapv:UnspecifiedMatching -DOID:0090111 PCWH syndrome skos:exactMatch OMIM:609136 semapv:UnspecifiedMatching DOID:0090112 Nasu-Hakola disease oboInOwl:hasDbXref GARD:9921 semapv:UnspecifiedMatching DOID:0090112 Nasu-Hakola disease oboInOwl:hasDbXref MESH:C536329 semapv:UnspecifiedMatching -DOID:0090112 Nasu-Hakola disease oboInOwl:hasDbXref OMIM:221770 semapv:UnspecifiedMatching DOID:0090112 Nasu-Hakola disease oboInOwl:hasDbXref ORDO:2770 semapv:UnspecifiedMatching DOID:0090112 Nasu-Hakola disease oboInOwl:hasDbXref UMLS:C1857316 semapv:UnspecifiedMatching -DOID:0090112 Nasu-Hakola disease skos:exactMatch OMIM:221770 semapv:UnspecifiedMatching DOID:0090113 RIDDLE syndrome oboInOwl:hasDbXref ICD10CM:D82.8 semapv:UnspecifiedMatching DOID:0090113 RIDDLE syndrome oboInOwl:hasDbXref MESH:C567453 semapv:UnspecifiedMatching -DOID:0090113 RIDDLE syndrome oboInOwl:hasDbXref OMIM:611943 semapv:UnspecifiedMatching DOID:0090113 RIDDLE syndrome oboInOwl:hasDbXref ORDO:420741 semapv:UnspecifiedMatching -DOID:0090113 RIDDLE syndrome skos:exactMatch OMIM:611943 semapv:UnspecifiedMatching -DOID:0090114 Sorsby's fundus dystrophy oboInOwl:hasDbXref OMIM:136900 semapv:UnspecifiedMatching -DOID:0090114 Sorsby's fundus dystrophy skos:exactMatch OMIM:136900 semapv:UnspecifiedMatching DOID:0090115 spinocerebellar ataxia with axonal neuropathy 1 oboInOwl:hasDbXref GARD:10000 semapv:UnspecifiedMatching DOID:0090115 spinocerebellar ataxia with axonal neuropathy 1 oboInOwl:hasDbXref ICD10CM:G60.2 semapv:UnspecifiedMatching -DOID:0090115 spinocerebellar ataxia with axonal neuropathy 1 oboInOwl:hasDbXref OMIM:607250 semapv:UnspecifiedMatching DOID:0090115 spinocerebellar ataxia with axonal neuropathy 1 oboInOwl:hasDbXref ORDO:94124 semapv:UnspecifiedMatching -DOID:0090115 spinocerebellar ataxia with axonal neuropathy 1 skos:exactMatch OMIM:607250 semapv:UnspecifiedMatching DOID:0090116 spondylocarpotarsal synostosis syndrome oboInOwl:hasDbXref GARD:4974 semapv:UnspecifiedMatching DOID:0090116 spondylocarpotarsal synostosis syndrome oboInOwl:hasDbXref ICD10CM:Q76.4 semapv:UnspecifiedMatching -DOID:0090116 spondylocarpotarsal synostosis syndrome oboInOwl:hasDbXref OMIM:272460 semapv:UnspecifiedMatching DOID:0090116 spondylocarpotarsal synostosis syndrome oboInOwl:hasDbXref ORDO:3275 semapv:UnspecifiedMatching -DOID:0090116 spondylocarpotarsal synostosis syndrome skos:exactMatch OMIM:272460 semapv:UnspecifiedMatching DOID:0090117 thiamine-responsive megaloblastic anemia syndrome oboInOwl:hasDbXref GARD:9210 semapv:UnspecifiedMatching DOID:0090117 thiamine-responsive megaloblastic anemia syndrome oboInOwl:hasDbXref MESH:C536510 semapv:UnspecifiedMatching -DOID:0090117 thiamine-responsive megaloblastic anemia syndrome oboInOwl:hasDbXref OMIM:249270 semapv:UnspecifiedMatching DOID:0090117 thiamine-responsive megaloblastic anemia syndrome oboInOwl:hasDbXref ORDO:498277 semapv:UnspecifiedMatching DOID:0090117 thiamine-responsive megaloblastic anemia syndrome oboInOwl:hasDbXref UMLS:C0342287 semapv:UnspecifiedMatching -DOID:0090117 thiamine-responsive megaloblastic anemia syndrome skos:exactMatch OMIM:249270 semapv:UnspecifiedMatching DOID:0090118 congenital amegakaryocytic thrombocytopenia oboInOwl:hasDbXref GARD:640 semapv:UnspecifiedMatching DOID:0090118 congenital amegakaryocytic thrombocytopenia oboInOwl:hasDbXref MESH:C535982 semapv:UnspecifiedMatching DOID:0090118 congenital amegakaryocytic thrombocytopenia oboInOwl:hasDbXref NCI:C115207 semapv:UnspecifiedMatching -DOID:0090118 congenital amegakaryocytic thrombocytopenia oboInOwl:hasDbXref OMIM:604498 semapv:UnspecifiedMatching DOID:0090118 congenital amegakaryocytic thrombocytopenia oboInOwl:hasDbXref ORDO:3319 semapv:UnspecifiedMatching DOID:0090118 congenital amegakaryocytic thrombocytopenia oboInOwl:hasDbXref UMLS:C1327915 semapv:UnspecifiedMatching -DOID:0090118 congenital amegakaryocytic thrombocytopenia skos:exactMatch OMIM:604498 semapv:UnspecifiedMatching DOID:0090119 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome oboInOwl:hasDbXref MESH:C535289 semapv:UnspecifiedMatching -DOID:0090119 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome oboInOwl:hasDbXref OMIM:106260 semapv:UnspecifiedMatching DOID:0090119 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome oboInOwl:hasDbXref ORDO:1071 semapv:UnspecifiedMatching DOID:0090119 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome oboInOwl:hasDbXref UMLS:C1785148 semapv:UnspecifiedMatching -DOID:0090119 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:exactMatch OMIM:106260 semapv:UnspecifiedMatching DOID:0090120 hereditary neutrophilia oboInOwl:hasDbXref MESH:C563010 semapv:UnspecifiedMatching -DOID:0090120 hereditary neutrophilia oboInOwl:hasDbXref OMIM:162830 semapv:UnspecifiedMatching DOID:0090120 hereditary neutrophilia oboInOwl:hasDbXref ORDO:279943 semapv:UnspecifiedMatching DOID:0090120 hereditary neutrophilia oboInOwl:hasDbXref UMLS:C0543669 semapv:UnspecifiedMatching -DOID:0090120 hereditary neutrophilia skos:exactMatch OMIM:162830 semapv:UnspecifiedMatching DOID:0090122 aromatase excess syndrome oboInOwl:hasDbXref GARD:12949 semapv:UnspecifiedMatching DOID:0090122 aromatase excess syndrome oboInOwl:hasDbXref ICD10CM:E30.1 semapv:UnspecifiedMatching -DOID:0090122 aromatase excess syndrome oboInOwl:hasDbXref OMIM:139300 semapv:UnspecifiedMatching DOID:0090122 aromatase excess syndrome oboInOwl:hasDbXref ORDO:178345 semapv:UnspecifiedMatching -DOID:0090122 aromatase excess syndrome skos:exactMatch OMIM:139300 semapv:UnspecifiedMatching DOID:0090123 aromatic L-amino acid decarboxylase deficiency oboInOwl:hasDbXref GARD:770 semapv:UnspecifiedMatching DOID:0090123 aromatic L-amino acid decarboxylase deficiency oboInOwl:hasDbXref ICD10CM:E70.81 semapv:UnspecifiedMatching DOID:0090123 aromatic L-amino acid decarboxylase deficiency oboInOwl:hasDbXref MESH:C537437 semapv:UnspecifiedMatching DOID:0090123 aromatic L-amino acid decarboxylase deficiency oboInOwl:hasDbXref NCI:C142085 semapv:UnspecifiedMatching -DOID:0090123 aromatic L-amino acid decarboxylase deficiency oboInOwl:hasDbXref OMIM:608643 semapv:UnspecifiedMatching DOID:0090123 aromatic L-amino acid decarboxylase deficiency oboInOwl:hasDbXref ORDO:35708 semapv:UnspecifiedMatching DOID:0090123 aromatic L-amino acid decarboxylase deficiency oboInOwl:hasDbXref UMLS:C1291564 semapv:UnspecifiedMatching -DOID:0090123 aromatic L-amino acid decarboxylase deficiency skos:exactMatch OMIM:608643 semapv:UnspecifiedMatching DOID:0090124 neurogenic-type arthrogryposis multiplex congenita-2 oboInOwl:hasDbXref MESH:C536614 semapv:UnspecifiedMatching -DOID:0090124 neurogenic-type arthrogryposis multiplex congenita-2 oboInOwl:hasDbXref OMIM:208100 semapv:UnspecifiedMatching DOID:0090124 neurogenic-type arthrogryposis multiplex congenita-2 oboInOwl:hasDbXref ORDO:1143 semapv:UnspecifiedMatching DOID:0090124 neurogenic-type arthrogryposis multiplex congenita-2 oboInOwl:hasDbXref UMLS:C1859721 semapv:UnspecifiedMatching -DOID:0090124 neurogenic-type arthrogryposis multiplex congenita-2 skos:exactMatch OMIM:208100 semapv:UnspecifiedMatching -DOID:0090125 brain small vessel disease 1 oboInOwl:hasDbXref OMIM:175780 semapv:UnspecifiedMatching DOID:0090125 brain small vessel disease 1 oboInOwl:hasDbXref ORDO:36383 semapv:UnspecifiedMatching -DOID:0090125 brain small vessel disease 1 skos:exactMatch OMIM:175780 semapv:UnspecifiedMatching DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency oboInOwl:hasDbXref ICD10CM:E71.1 semapv:UnspecifiedMatching -DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency oboInOwl:hasDbXref OMIM:614923 semapv:UnspecifiedMatching DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency oboInOwl:hasDbXref ORDO:308410 semapv:UnspecifiedMatching -DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency skos:exactMatch OMIM:614923 semapv:UnspecifiedMatching DOID:0090127 camptodactyly-arthropathy-coxa vara-pericarditis syndrome oboInOwl:hasDbXref MESH:C537560 semapv:UnspecifiedMatching -DOID:0090127 camptodactyly-arthropathy-coxa vara-pericarditis syndrome oboInOwl:hasDbXref OMIM:208250 semapv:UnspecifiedMatching DOID:0090127 camptodactyly-arthropathy-coxa vara-pericarditis syndrome oboInOwl:hasDbXref ORDO:2848 semapv:UnspecifiedMatching DOID:0090127 camptodactyly-arthropathy-coxa vara-pericarditis syndrome oboInOwl:hasDbXref UMLS:C1859690 semapv:UnspecifiedMatching -DOID:0090127 camptodactyly-arthropathy-coxa vara-pericarditis syndrome skos:exactMatch OMIM:208250 semapv:UnspecifiedMatching DOID:0090128 Carvajal syndrome oboInOwl:hasDbXref GARD:5595 semapv:UnspecifiedMatching DOID:0090128 Carvajal syndrome oboInOwl:hasDbXref MESH:C535581 semapv:UnspecifiedMatching -DOID:0090128 Carvajal syndrome oboInOwl:hasDbXref OMIM:605676 semapv:UnspecifiedMatching DOID:0090128 Carvajal syndrome oboInOwl:hasDbXref ORDO:65282 semapv:UnspecifiedMatching -DOID:0090128 Carvajal syndrome skos:exactMatch OMIM:605676 semapv:UnspecifiedMatching DOID:0090129 carnitine palmitoyltransferase I deficiency oboInOwl:hasDbXref GARD:1120 semapv:UnspecifiedMatching DOID:0090129 carnitine palmitoyltransferase I deficiency oboInOwl:hasDbXref ICD10CM:E71.3 semapv:UnspecifiedMatching -DOID:0090129 carnitine palmitoyltransferase I deficiency oboInOwl:hasDbXref OMIM:255120 semapv:UnspecifiedMatching DOID:0090129 carnitine palmitoyltransferase I deficiency oboInOwl:hasDbXref ORDO:156 semapv:UnspecifiedMatching -DOID:0090129 carnitine palmitoyltransferase I deficiency skos:exactMatch OMIM:255120 semapv:UnspecifiedMatching DOID:0090130 cortical dysplasia-focal epilepsy syndrome oboInOwl:hasDbXref ICD10CM:Q04.8 semapv:UnspecifiedMatching DOID:0090130 cortical dysplasia-focal epilepsy syndrome oboInOwl:hasDbXref MESH:C567657 semapv:UnspecifiedMatching -DOID:0090130 cortical dysplasia-focal epilepsy syndrome oboInOwl:hasDbXref OMIM:610042 semapv:UnspecifiedMatching DOID:0090130 cortical dysplasia-focal epilepsy syndrome oboInOwl:hasDbXref ORDO:163681 semapv:UnspecifiedMatching -DOID:0090130 cortical dysplasia-focal epilepsy syndrome skos:exactMatch OMIM:610042 semapv:UnspecifiedMatching -DOID:0090131 complex cortical dysplasia with other brain malformations oboInOwl:hasDbXref OMIMPS:614039 semapv:UnspecifiedMatching -DOID:0090131 complex cortical dysplasia with other brain malformations skos:exactMatch OMIMPS:614039 semapv:UnspecifiedMatching -DOID:0090132 complex cortical dysplasia with other brain malformations 7 oboInOwl:hasDbXref OMIM:610031 semapv:UnspecifiedMatching DOID:0090132 complex cortical dysplasia with other brain malformations 7 oboInOwl:hasDbXref ORDO:300573 semapv:UnspecifiedMatching -DOID:0090132 complex cortical dysplasia with other brain malformations 7 skos:exactMatch OMIM:610031 semapv:UnspecifiedMatching -DOID:0090133 complex cortical dysplasia with other brain malformations 2 oboInOwl:hasDbXref OMIM:615282 semapv:UnspecifiedMatching -DOID:0090133 complex cortical dysplasia with other brain malformations 2 skos:exactMatch OMIM:615282 semapv:UnspecifiedMatching -DOID:0090134 complex cortical dysplasia with other brain malformations 3 oboInOwl:hasDbXref OMIM:615411 semapv:UnspecifiedMatching -DOID:0090134 complex cortical dysplasia with other brain malformations 3 skos:exactMatch OMIM:615411 semapv:UnspecifiedMatching -DOID:0090135 complex cortical dysplasia with other brain malformations 5 oboInOwl:hasDbXref OMIM:615763 semapv:UnspecifiedMatching -DOID:0090135 complex cortical dysplasia with other brain malformations 5 skos:exactMatch OMIM:615763 semapv:UnspecifiedMatching -DOID:0090136 complex cortical dysplasia with other brain malformations 6 oboInOwl:hasDbXref OMIM:615771 semapv:UnspecifiedMatching -DOID:0090136 complex cortical dysplasia with other brain malformations 6 skos:exactMatch OMIM:615771 semapv:UnspecifiedMatching DOID:0090137 complex cortical dysplasia with other brain malformations 1 oboInOwl:hasDbXref ICD10CM:Q04.3 semapv:UnspecifiedMatching -DOID:0090137 complex cortical dysplasia with other brain malformations 1 oboInOwl:hasDbXref OMIM:614039 semapv:UnspecifiedMatching DOID:0090137 complex cortical dysplasia with other brain malformations 1 oboInOwl:hasDbXref ORDO:300570 semapv:UnspecifiedMatching -DOID:0090137 complex cortical dysplasia with other brain malformations 1 skos:exactMatch OMIM:614039 semapv:UnspecifiedMatching -DOID:0090138 complex cortical dysplasia with other brain malformations 4 oboInOwl:hasDbXref OMIM:615412 semapv:UnspecifiedMatching -DOID:0090138 complex cortical dysplasia with other brain malformations 4 skos:exactMatch OMIM:615412 semapv:UnspecifiedMatching DOID:0090139 cortisone reductase deficiency oboInOwl:hasDbXref GARD:9882 semapv:UnspecifiedMatching DOID:0090139 cortisone reductase deficiency oboInOwl:hasDbXref MESH:C536447 semapv:UnspecifiedMatching -DOID:0090139 cortisone reductase deficiency oboInOwl:hasDbXref OMIMPS:604931 semapv:UnspecifiedMatching -DOID:0090139 cortisone reductase deficiency skos:exactMatch OMIMPS:604931 semapv:UnspecifiedMatching DOID:0090140 cortisone reductase deficiency 2 oboInOwl:hasDbXref NCI:C131084 semapv:UnspecifiedMatching -DOID:0090140 cortisone reductase deficiency 2 oboInOwl:hasDbXref OMIM:614662 semapv:UnspecifiedMatching -DOID:0090140 cortisone reductase deficiency 2 skos:exactMatch OMIM:614662 semapv:UnspecifiedMatching DOID:0090141 cortisone reductase deficiency 1 oboInOwl:hasDbXref NCI:C131849 semapv:UnspecifiedMatching -DOID:0090141 cortisone reductase deficiency 1 oboInOwl:hasDbXref OMIM:604931 semapv:UnspecifiedMatching -DOID:0090141 cortisone reductase deficiency 1 skos:exactMatch OMIM:604931 semapv:UnspecifiedMatching DOID:0090142 cystathioninuria oboInOwl:hasDbXref GARD:2428 semapv:UnspecifiedMatching DOID:0090142 cystathioninuria oboInOwl:hasDbXref ICD10CM:E72.19 semapv:UnspecifiedMatching DOID:0090142 cystathioninuria oboInOwl:hasDbXref MESH:C535408 semapv:UnspecifiedMatching DOID:0090142 cystathioninuria oboInOwl:hasDbXref NCI:C129070 semapv:UnspecifiedMatching -DOID:0090142 cystathioninuria oboInOwl:hasDbXref OMIM:219500 semapv:UnspecifiedMatching DOID:0090142 cystathioninuria oboInOwl:hasDbXref ORDO:212 semapv:UnspecifiedMatching DOID:0090142 cystathioninuria oboInOwl:hasDbXref UMLS:C0220993 semapv:UnspecifiedMatching DOID:0090142 cystathioninuria oboInOwl:hasDbXref UMLS:C0268616 semapv:UnspecifiedMatching -DOID:0090142 cystathioninuria skos:exactMatch OMIM:219500 semapv:UnspecifiedMatching DOID:0090143 brachyolmia-amelogenesis imperfecta syndrome oboInOwl:hasDbXref GARD:5478 semapv:UnspecifiedMatching DOID:0090143 brachyolmia-amelogenesis imperfecta syndrome oboInOwl:hasDbXref ICD10CM:Q76.3 semapv:UnspecifiedMatching -DOID:0090143 brachyolmia-amelogenesis imperfecta syndrome oboInOwl:hasDbXref OMIM:601216 semapv:UnspecifiedMatching DOID:0090143 brachyolmia-amelogenesis imperfecta syndrome oboInOwl:hasDbXref ORDO:2899 semapv:UnspecifiedMatching -DOID:0090143 brachyolmia-amelogenesis imperfecta syndrome skos:exactMatch OMIM:601216 semapv:UnspecifiedMatching DOID:0090144 Donnai-Barrow syndrome oboInOwl:hasDbXref GARD:1899 semapv:UnspecifiedMatching DOID:0090144 Donnai-Barrow syndrome oboInOwl:hasDbXref MESH:C536390 semapv:UnspecifiedMatching -DOID:0090144 Donnai-Barrow syndrome oboInOwl:hasDbXref OMIM:222448 semapv:UnspecifiedMatching DOID:0090144 Donnai-Barrow syndrome oboInOwl:hasDbXref ORDO:2143 semapv:UnspecifiedMatching DOID:0090144 Donnai-Barrow syndrome oboInOwl:hasDbXref UMLS:C1857277 semapv:UnspecifiedMatching -DOID:0090144 Donnai-Barrow syndrome skos:exactMatch OMIM:222448 semapv:UnspecifiedMatching DOID:0090145 dopamine beta-hydroxylase deficiency oboInOwl:hasDbXref GARD:1903 semapv:UnspecifiedMatching DOID:0090145 dopamine beta-hydroxylase deficiency oboInOwl:hasDbXref MESH:C535600 semapv:UnspecifiedMatching -DOID:0090145 dopamine beta-hydroxylase deficiency oboInOwl:hasDbXref OMIM:223360 semapv:UnspecifiedMatching DOID:0090145 dopamine beta-hydroxylase deficiency oboInOwl:hasDbXref ORDO:230 semapv:UnspecifiedMatching DOID:0090145 dopamine beta-hydroxylase deficiency oboInOwl:hasDbXref UMLS:C0342687 semapv:UnspecifiedMatching -DOID:0090145 dopamine beta-hydroxylase deficiency skos:exactMatch OMIM:223360 semapv:UnspecifiedMatching -DOID:0110000 3-methylglutaconic aciduria type 5 oboInOwl:hasDbXref OMIM:610198 semapv:UnspecifiedMatching DOID:0110000 3-methylglutaconic aciduria type 5 oboInOwl:hasDbXref ORDO:66634 semapv:UnspecifiedMatching -DOID:0110000 3-methylglutaconic aciduria type 5 skos:exactMatch OMIM:610198 semapv:UnspecifiedMatching -DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome oboInOwl:hasDbXref OMIM:614739 semapv:UnspecifiedMatching DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome oboInOwl:hasDbXref ORDO:352328 semapv:UnspecifiedMatching -DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome skos:exactMatch OMIM:614739 semapv:UnspecifiedMatching DOID:0110002 3-methylglutaconic aciduria type 1 oboInOwl:hasDbXref MESH:C562801 semapv:UnspecifiedMatching -DOID:0110002 3-methylglutaconic aciduria type 1 oboInOwl:hasDbXref OMIM:250950 semapv:UnspecifiedMatching DOID:0110002 3-methylglutaconic aciduria type 1 oboInOwl:hasDbXref ORDO:67046 semapv:UnspecifiedMatching -DOID:0110002 3-methylglutaconic aciduria type 1 skos:exactMatch OMIM:250950 semapv:UnspecifiedMatching -DOID:0110003 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia oboInOwl:hasDbXref OMIM:616271 semapv:UnspecifiedMatching DOID:0110003 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia oboInOwl:hasDbXref ORDO:445038 semapv:UnspecifiedMatching -DOID:0110003 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia skos:exactMatch OMIM:616271 semapv:UnspecifiedMatching -DOID:0110004 3-methylglutaconic aciduria type 3 oboInOwl:hasDbXref OMIM:258501 semapv:UnspecifiedMatching DOID:0110004 3-methylglutaconic aciduria type 3 oboInOwl:hasDbXref ORDO:67047 semapv:UnspecifiedMatching -DOID:0110004 3-methylglutaconic aciduria type 3 skos:exactMatch OMIM:258501 semapv:UnspecifiedMatching DOID:0110005 Leber congenital amaurosis 9 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110005 Leber congenital amaurosis 9 oboInOwl:hasDbXref OMIM:608553 semapv:UnspecifiedMatching -DOID:0110005 Leber congenital amaurosis 9 skos:exactMatch OMIM:608553 semapv:UnspecifiedMatching DOID:0110006 3-methylglutaconic aciduria type 4 oboInOwl:hasDbXref MESH:C565393 semapv:UnspecifiedMatching -DOID:0110006 3-methylglutaconic aciduria type 4 oboInOwl:hasDbXref OMIM:250951 semapv:UnspecifiedMatching DOID:0110006 3-methylglutaconic aciduria type 4 oboInOwl:hasDbXref ORDO:67048 semapv:UnspecifiedMatching -DOID:0110006 3-methylglutaconic aciduria type 4 skos:exactMatch OMIM:250951 semapv:UnspecifiedMatching DOID:0110007 achromatopsia 2 oboInOwl:hasDbXref GARD:9649 semapv:UnspecifiedMatching DOID:0110007 achromatopsia 2 oboInOwl:hasDbXref MESH:C536128 semapv:UnspecifiedMatching -DOID:0110007 achromatopsia 2 oboInOwl:hasDbXref OMIM:216900 semapv:UnspecifiedMatching -DOID:0110007 achromatopsia 2 skos:exactMatch OMIM:216900 semapv:UnspecifiedMatching DOID:0110008 achromatopsia 3 oboInOwl:hasDbXref GARD:9650 semapv:UnspecifiedMatching DOID:0110008 achromatopsia 3 oboInOwl:hasDbXref MESH:C536129 semapv:UnspecifiedMatching -DOID:0110008 achromatopsia 3 oboInOwl:hasDbXref OMIM:262300 semapv:UnspecifiedMatching -DOID:0110008 achromatopsia 3 skos:exactMatch OMIM:262300 semapv:UnspecifiedMatching -DOID:0110009 achromatopsia 7 oboInOwl:hasDbXref OMIM:616517 semapv:UnspecifiedMatching -DOID:0110009 achromatopsia 7 skos:exactMatch OMIM:616517 semapv:UnspecifiedMatching DOID:0110010 achromatopsia 4 oboInOwl:hasDbXref MESH:C564206 semapv:UnspecifiedMatching -DOID:0110010 achromatopsia 4 oboInOwl:hasDbXref OMIM:613856 semapv:UnspecifiedMatching -DOID:0110010 achromatopsia 4 skos:exactMatch OMIM:613856 semapv:UnspecifiedMatching -DOID:0110011 advanced sleep phase syndrome 1 oboInOwl:hasDbXref OMIM:604348 semapv:UnspecifiedMatching -DOID:0110011 advanced sleep phase syndrome 1 skos:exactMatch OMIM:604348 semapv:UnspecifiedMatching -DOID:0110012 advanced sleep phase syndrome 2 oboInOwl:hasDbXref OMIM:615224 semapv:UnspecifiedMatching -DOID:0110012 advanced sleep phase syndrome 2 skos:exactMatch OMIM:615224 semapv:UnspecifiedMatching -DOID:0110013 advanced sleep phase syndrome 3 oboInOwl:hasDbXref OMIM:616882 semapv:UnspecifiedMatching -DOID:0110013 advanced sleep phase syndrome 3 skos:exactMatch OMIM:616882 semapv:UnspecifiedMatching -DOID:0110014 age related macular degeneration 1 oboInOwl:hasDbXref OMIM:603075 semapv:UnspecifiedMatching -DOID:0110014 age related macular degeneration 1 skos:exactMatch OMIM:603075 semapv:UnspecifiedMatching -DOID:0110015 age related macular degeneration 2 oboInOwl:hasDbXref OMIM:153800 semapv:UnspecifiedMatching -DOID:0110015 age related macular degeneration 2 skos:exactMatch OMIM:153800 semapv:UnspecifiedMatching DOID:0110016 Leber congenital amaurosis 2 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110016 Leber congenital amaurosis 2 oboInOwl:hasDbXref OMIM:204100 semapv:UnspecifiedMatching -DOID:0110016 Leber congenital amaurosis 2 skos:exactMatch OMIM:204100 semapv:UnspecifiedMatching -DOID:0110017 age related macular degeneration 4 oboInOwl:hasDbXref OMIM:610698 semapv:UnspecifiedMatching -DOID:0110017 age related macular degeneration 4 skos:exactMatch OMIM:610698 semapv:UnspecifiedMatching -DOID:0110018 age related macular degeneration 6 oboInOwl:hasDbXref OMIM:613757 semapv:UnspecifiedMatching -DOID:0110018 age related macular degeneration 6 skos:exactMatch OMIM:613757 semapv:UnspecifiedMatching -DOID:0110019 age related macular degeneration 7 oboInOwl:hasDbXref OMIM:610149 semapv:UnspecifiedMatching -DOID:0110019 age related macular degeneration 7 skos:exactMatch OMIM:610149 semapv:UnspecifiedMatching -DOID:0110020 age related macular degeneration 8 oboInOwl:hasDbXref OMIM:613778 semapv:UnspecifiedMatching -DOID:0110020 age related macular degeneration 8 skos:exactMatch OMIM:613778 semapv:UnspecifiedMatching -DOID:0110021 age related macular degeneration 9 oboInOwl:hasDbXref OMIM:611378 semapv:UnspecifiedMatching -DOID:0110021 age related macular degeneration 9 skos:exactMatch OMIM:611378 semapv:UnspecifiedMatching -DOID:0110022 age related macular degeneration 10 oboInOwl:hasDbXref OMIM:611488 semapv:UnspecifiedMatching -DOID:0110022 age related macular degeneration 10 skos:exactMatch OMIM:611488 semapv:UnspecifiedMatching -DOID:0110023 age related macular degeneration 11 oboInOwl:hasDbXref OMIM:611953 semapv:UnspecifiedMatching -DOID:0110023 age related macular degeneration 11 skos:exactMatch OMIM:611953 semapv:UnspecifiedMatching -DOID:0110024 age related macular degeneration 12 oboInOwl:hasDbXref OMIM:613784 semapv:UnspecifiedMatching -DOID:0110024 age related macular degeneration 12 skos:exactMatch OMIM:613784 semapv:UnspecifiedMatching -DOID:0110025 age related macular degeneration 13 oboInOwl:hasDbXref OMIM:615439 semapv:UnspecifiedMatching -DOID:0110025 age related macular degeneration 13 skos:exactMatch OMIM:615439 semapv:UnspecifiedMatching -DOID:0110026 age related macular degeneration 14 oboInOwl:hasDbXref OMIM:615489 semapv:UnspecifiedMatching -DOID:0110026 age related macular degeneration 14 skos:exactMatch OMIM:615489 semapv:UnspecifiedMatching -DOID:0110027 age related macular degeneration 15 oboInOwl:hasDbXref OMIM:615591 semapv:UnspecifiedMatching -DOID:0110027 age related macular degeneration 15 skos:exactMatch OMIM:615591 semapv:UnspecifiedMatching -DOID:0110028 age related macular degeneration 5 oboInOwl:hasDbXref OMIM:613761 semapv:UnspecifiedMatching -DOID:0110028 age related macular degeneration 5 skos:exactMatch OMIM:613761 semapv:UnspecifiedMatching DOID:0110029 alpha thalassemia-intellectual disability syndrome type 1 oboInOwl:hasDbXref ICD10CM:D56.0 semapv:UnspecifiedMatching -DOID:0110029 alpha thalassemia-intellectual disability syndrome type 1 oboInOwl:hasDbXref OMIM:141750 semapv:UnspecifiedMatching DOID:0110029 alpha thalassemia-intellectual disability syndrome type 1 oboInOwl:hasDbXref ORDO:98791 semapv:UnspecifiedMatching -DOID:0110029 alpha thalassemia-intellectual disability syndrome type 1 skos:exactMatch OMIM:141750 semapv:UnspecifiedMatching DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome oboInOwl:hasDbXref GARD:5864 semapv:UnspecifiedMatching DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome oboInOwl:hasDbXref ICD10CM:D56.0 semapv:UnspecifiedMatching -DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome oboInOwl:hasDbXref OMIM:301040 semapv:UnspecifiedMatching DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome oboInOwl:hasDbXref ORDO:847 semapv:UnspecifiedMatching -DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome skos:exactMatch OMIM:301040 semapv:UnspecifiedMatching DOID:0110031 hemoglobin H disease oboInOwl:hasDbXref ICD10CM:D56.0 semapv:UnspecifiedMatching -DOID:0110031 hemoglobin H disease oboInOwl:hasDbXref OMIM:613978 semapv:UnspecifiedMatching DOID:0110031 hemoglobin H disease oboInOwl:hasDbXref ORDO:93616 semapv:UnspecifiedMatching -DOID:0110031 hemoglobin H disease skos:exactMatch OMIM:613978 semapv:UnspecifiedMatching DOID:0110032 autosomal dominant Alport syndrome oboInOwl:hasDbXref GARD:624 semapv:UnspecifiedMatching -DOID:0110032 autosomal dominant Alport syndrome oboInOwl:hasDbXref OMIM:104200 semapv:UnspecifiedMatching DOID:0110032 autosomal dominant Alport syndrome oboInOwl:hasDbXref ORDO:88918 semapv:UnspecifiedMatching -DOID:0110032 autosomal dominant Alport syndrome skos:exactMatch OMIM:104200 semapv:UnspecifiedMatching DOID:0110033 autosomal recessive Alport syndrome oboInOwl:hasDbXref GARD:625 semapv:UnspecifiedMatching -DOID:0110033 autosomal recessive Alport syndrome oboInOwl:hasDbXref OMIM:203780 semapv:UnspecifiedMatching DOID:0110033 autosomal recessive Alport syndrome oboInOwl:hasDbXref ORDO:88919 semapv:UnspecifiedMatching -DOID:0110033 autosomal recessive Alport syndrome skos:exactMatch OMIM:203780 semapv:UnspecifiedMatching -DOID:0110034 X-linked Alport syndrome oboInOwl:hasDbXref OMIM:301050 semapv:UnspecifiedMatching DOID:0110034 X-linked Alport syndrome oboInOwl:hasDbXref ORDO:88917 semapv:UnspecifiedMatching -DOID:0110034 X-linked Alport syndrome skos:exactMatch OMIM:301050 semapv:UnspecifiedMatching DOID:0110035 Alzheimer's disease 2 oboInOwl:hasDbXref ICD10CM:G30 semapv:UnspecifiedMatching -DOID:0110035 Alzheimer's disease 2 oboInOwl:hasDbXref OMIM:104310 semapv:UnspecifiedMatching -DOID:0110035 Alzheimer's disease 2 skos:exactMatch OMIM:104310 semapv:UnspecifiedMatching -DOID:0110036 Alzheimer's disease 16 oboInOwl:hasDbXref OMIM:300756 semapv:UnspecifiedMatching -DOID:0110036 Alzheimer's disease 16 skos:exactMatch OMIM:300756 semapv:UnspecifiedMatching DOID:0110037 Alzheimer's disease 5 oboInOwl:hasDbXref ICD10CM:G30 semapv:UnspecifiedMatching -DOID:0110037 Alzheimer's disease 5 oboInOwl:hasDbXref OMIM:602096 semapv:UnspecifiedMatching -DOID:0110037 Alzheimer's disease 5 skos:exactMatch OMIM:602096 semapv:UnspecifiedMatching DOID:0110038 Alzheimer's disease 6 oboInOwl:hasDbXref ICD10CM:G30 semapv:UnspecifiedMatching -DOID:0110038 Alzheimer's disease 6 oboInOwl:hasDbXref OMIM:605526 semapv:UnspecifiedMatching -DOID:0110038 Alzheimer's disease 6 skos:exactMatch OMIM:605526 semapv:UnspecifiedMatching DOID:0110039 Alzheimer's disease 7 oboInOwl:hasDbXref ICD10CM:G30 semapv:UnspecifiedMatching -DOID:0110039 Alzheimer's disease 7 oboInOwl:hasDbXref OMIM:606187 semapv:UnspecifiedMatching -DOID:0110039 Alzheimer's disease 7 skos:exactMatch OMIM:606187 semapv:UnspecifiedMatching -DOID:0110040 Alzheimer's disease 4 oboInOwl:hasDbXref OMIM:606889 semapv:UnspecifiedMatching -DOID:0110040 Alzheimer's disease 4 skos:exactMatch OMIM:606889 semapv:UnspecifiedMatching DOID:0110041 Alzheimer's disease 8 oboInOwl:hasDbXref ICD10CM:G30 semapv:UnspecifiedMatching -DOID:0110041 Alzheimer's disease 8 oboInOwl:hasDbXref OMIM:607116 semapv:UnspecifiedMatching -DOID:0110041 Alzheimer's disease 8 skos:exactMatch OMIM:607116 semapv:UnspecifiedMatching -DOID:0110042 Alzheimer's disease 3 oboInOwl:hasDbXref OMIM:607822 semapv:UnspecifiedMatching -DOID:0110042 Alzheimer's disease 3 skos:exactMatch OMIM:607822 semapv:UnspecifiedMatching DOID:0110043 Alzheimer's disease 10 oboInOwl:hasDbXref ICD10CM:G30 semapv:UnspecifiedMatching -DOID:0110043 Alzheimer's disease 10 oboInOwl:hasDbXref OMIM:609636 semapv:UnspecifiedMatching -DOID:0110043 Alzheimer's disease 10 skos:exactMatch OMIM:609636 semapv:UnspecifiedMatching DOID:0110044 Alzheimer's disease 11 oboInOwl:hasDbXref ICD10CM:G30 semapv:UnspecifiedMatching -DOID:0110044 Alzheimer's disease 11 oboInOwl:hasDbXref OMIM:609790 semapv:UnspecifiedMatching -DOID:0110044 Alzheimer's disease 11 skos:exactMatch OMIM:609790 semapv:UnspecifiedMatching DOID:0110045 Alzheimer's disease 12 oboInOwl:hasDbXref ICD10CM:G30 semapv:UnspecifiedMatching -DOID:0110045 Alzheimer's disease 12 oboInOwl:hasDbXref OMIM:611073 semapv:UnspecifiedMatching -DOID:0110045 Alzheimer's disease 12 skos:exactMatch OMIM:611073 semapv:UnspecifiedMatching DOID:0110046 Alzheimer's disease 13 oboInOwl:hasDbXref ICD10CM:G30 semapv:UnspecifiedMatching -DOID:0110046 Alzheimer's disease 13 oboInOwl:hasDbXref OMIM:611152 semapv:UnspecifiedMatching -DOID:0110046 Alzheimer's disease 13 skos:exactMatch OMIM:611152 semapv:UnspecifiedMatching DOID:0110047 Alzheimer's disease 14 oboInOwl:hasDbXref ICD10CM:G30 semapv:UnspecifiedMatching -DOID:0110047 Alzheimer's disease 14 oboInOwl:hasDbXref OMIM:611154 semapv:UnspecifiedMatching -DOID:0110047 Alzheimer's disease 14 skos:exactMatch OMIM:611154 semapv:UnspecifiedMatching DOID:0110048 Alzheimer's disease 15 oboInOwl:hasDbXref GARD:7190 semapv:UnspecifiedMatching DOID:0110048 Alzheimer's disease 15 oboInOwl:hasDbXref ICD10CM:G30 semapv:UnspecifiedMatching -DOID:0110048 Alzheimer's disease 15 oboInOwl:hasDbXref OMIM:604154 semapv:UnspecifiedMatching -DOID:0110048 Alzheimer's disease 15 skos:exactMatch OMIM:604154 semapv:UnspecifiedMatching -DOID:0110049 Alzheimer's disease 17 oboInOwl:hasDbXref OMIM:615080 semapv:UnspecifiedMatching -DOID:0110049 Alzheimer's disease 17 skos:exactMatch OMIM:615080 semapv:UnspecifiedMatching -DOID:0110050 Alzheimer's disease 18 oboInOwl:hasDbXref OMIM:615590 semapv:UnspecifiedMatching -DOID:0110050 Alzheimer's disease 18 skos:exactMatch OMIM:615590 semapv:UnspecifiedMatching -DOID:0110051 Alzheimer's disease 19 oboInOwl:hasDbXref OMIM:615711 semapv:UnspecifiedMatching -DOID:0110051 Alzheimer's disease 19 skos:exactMatch OMIM:615711 semapv:UnspecifiedMatching DOID:0110052 amelogenesis imperfecta type 1B oboInOwl:hasDbXref ICD10CM:K00.5 semapv:UnspecifiedMatching -DOID:0110052 amelogenesis imperfecta type 1B oboInOwl:hasDbXref OMIM:104500 semapv:UnspecifiedMatching -DOID:0110052 amelogenesis imperfecta type 1B skos:exactMatch OMIM:104500 semapv:UnspecifiedMatching DOID:0110053 amelogenesis imperfecta type 4 oboInOwl:hasDbXref ICD10CM:K00.5 semapv:UnspecifiedMatching -DOID:0110053 amelogenesis imperfecta type 4 oboInOwl:hasDbXref OMIM:104510 semapv:UnspecifiedMatching -DOID:0110053 amelogenesis imperfecta type 4 skos:exactMatch OMIM:104510 semapv:UnspecifiedMatching DOID:0110054 amelogenesis imperfecta type 1A oboInOwl:hasDbXref ICD10CM:K00.5 semapv:UnspecifiedMatching -DOID:0110054 amelogenesis imperfecta type 1A oboInOwl:hasDbXref OMIM:104530 semapv:UnspecifiedMatching -DOID:0110054 amelogenesis imperfecta type 1A skos:exactMatch OMIM:104530 semapv:UnspecifiedMatching DOID:0110055 amelogenesis imperfecta type 3A oboInOwl:hasDbXref ICD10CM:K00.5 semapv:UnspecifiedMatching -DOID:0110055 amelogenesis imperfecta type 3A oboInOwl:hasDbXref OMIM:130900 semapv:UnspecifiedMatching -DOID:0110055 amelogenesis imperfecta type 3A skos:exactMatch OMIM:130900 semapv:UnspecifiedMatching DOID:0110056 amelogenesis imperfecta type 1C oboInOwl:hasDbXref ICD10CM:K00.5 semapv:UnspecifiedMatching -DOID:0110056 amelogenesis imperfecta type 1C oboInOwl:hasDbXref OMIM:204650 semapv:UnspecifiedMatching -DOID:0110056 amelogenesis imperfecta type 1C skos:exactMatch OMIM:204650 semapv:UnspecifiedMatching DOID:0110057 amelogenesis imperfecta type 2A1 oboInOwl:hasDbXref GARD:9495 semapv:UnspecifiedMatching DOID:0110057 amelogenesis imperfecta type 2A1 oboInOwl:hasDbXref ICD10CM:K00.5 semapv:UnspecifiedMatching -DOID:0110057 amelogenesis imperfecta type 2A1 oboInOwl:hasDbXref OMIM:204700 semapv:UnspecifiedMatching -DOID:0110057 amelogenesis imperfecta type 2A1 skos:exactMatch OMIM:204700 semapv:UnspecifiedMatching DOID:0110058 amelogenesis imperfecta type 1E oboInOwl:hasDbXref ICD10CM:K00.5 semapv:UnspecifiedMatching -DOID:0110058 amelogenesis imperfecta type 1E oboInOwl:hasDbXref OMIM:301200 semapv:UnspecifiedMatching -DOID:0110058 amelogenesis imperfecta type 1E skos:exactMatch OMIM:301200 semapv:UnspecifiedMatching DOID:0110059 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 oboInOwl:hasDbXref ICD10CM:K00.5 semapv:UnspecifiedMatching -DOID:0110059 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 oboInOwl:hasDbXref OMIM:301201 semapv:UnspecifiedMatching -DOID:0110059 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 skos:exactMatch OMIM:301201 semapv:UnspecifiedMatching DOID:0110060 amelogenesis imperfecta hypomaturation type 2A2 oboInOwl:hasDbXref ICD10CM:K00.5 semapv:UnspecifiedMatching -DOID:0110060 amelogenesis imperfecta hypomaturation type 2A2 oboInOwl:hasDbXref OMIM:612529 semapv:UnspecifiedMatching -DOID:0110060 amelogenesis imperfecta hypomaturation type 2A2 skos:exactMatch OMIM:612529 semapv:UnspecifiedMatching DOID:0110061 amelogenesis imperfecta hypomaturation type 2A3 oboInOwl:hasDbXref ICD10CM:K00.5 semapv:UnspecifiedMatching -DOID:0110061 amelogenesis imperfecta hypomaturation type 2A3 oboInOwl:hasDbXref OMIM:613211 semapv:UnspecifiedMatching -DOID:0110061 amelogenesis imperfecta hypomaturation type 2A3 skos:exactMatch OMIM:613211 semapv:UnspecifiedMatching DOID:0110062 amelogenesis imperfecta hypomaturation type 2A4 oboInOwl:hasDbXref ICD10CM:K00.5 semapv:UnspecifiedMatching -DOID:0110062 amelogenesis imperfecta hypomaturation type 2A4 oboInOwl:hasDbXref OMIM:614832 semapv:UnspecifiedMatching -DOID:0110062 amelogenesis imperfecta hypomaturation type 2A4 skos:exactMatch OMIM:614832 semapv:UnspecifiedMatching DOID:0110063 amelogenesis imperfecta hypomaturation type 2A5 oboInOwl:hasDbXref ICD10CM:K00.5 semapv:UnspecifiedMatching -DOID:0110063 amelogenesis imperfecta hypomaturation type 2A5 oboInOwl:hasDbXref OMIM:615887 semapv:UnspecifiedMatching -DOID:0110063 amelogenesis imperfecta hypomaturation type 2A5 skos:exactMatch OMIM:615887 semapv:UnspecifiedMatching DOID:0110064 amelogenesis imperfecta type 1H oboInOwl:hasDbXref ICD10CM:K00.5 semapv:UnspecifiedMatching -DOID:0110064 amelogenesis imperfecta type 1H oboInOwl:hasDbXref OMIM:616221 semapv:UnspecifiedMatching -DOID:0110064 amelogenesis imperfecta type 1H skos:exactMatch OMIM:616221 semapv:UnspecifiedMatching DOID:0110065 amelogenesis imperfecta type 1F oboInOwl:hasDbXref ICD10CM:K00.5 semapv:UnspecifiedMatching -DOID:0110065 amelogenesis imperfecta type 1F oboInOwl:hasDbXref OMIM:616270 semapv:UnspecifiedMatching -DOID:0110065 amelogenesis imperfecta type 1F skos:exactMatch OMIM:616270 semapv:UnspecifiedMatching DOID:0110066 amelogenesis imperfecta type 1G oboInOwl:hasDbXref ICD10CM:K00.5 semapv:UnspecifiedMatching -DOID:0110066 amelogenesis imperfecta type 1G oboInOwl:hasDbXref OMIM:204690 semapv:UnspecifiedMatching DOID:0110066 amelogenesis imperfecta type 1G oboInOwl:hasDbXref ORDO:1031 semapv:UnspecifiedMatching -DOID:0110066 amelogenesis imperfecta type 1G skos:exactMatch OMIM:204690 semapv:UnspecifiedMatching -DOID:0110067 juvenile amyotrophic lateral sclerosis with dementia oboInOwl:hasDbXref OMIM:205200 semapv:UnspecifiedMatching -DOID:0110067 juvenile amyotrophic lateral sclerosis with dementia skos:exactMatch OMIM:205200 semapv:UnspecifiedMatching -DOID:0110068 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 oboInOwl:hasDbXref OMIM:616437 semapv:UnspecifiedMatching -DOID:0110068 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 skos:exactMatch OMIM:616437 semapv:UnspecifiedMatching -DOID:0110069 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 oboInOwl:hasDbXref OMIM:616439 semapv:UnspecifiedMatching -DOID:0110069 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 skos:exactMatch OMIM:616439 semapv:UnspecifiedMatching DOID:0110070 arrhythmogenic right ventricular dysplasia 1 oboInOwl:hasDbXref ICD10CM:I42.8 semapv:UnspecifiedMatching DOID:0110070 arrhythmogenic right ventricular dysplasia 1 oboInOwl:hasDbXref ICD10CM:Q24.8 semapv:UnspecifiedMatching DOID:0110070 arrhythmogenic right ventricular dysplasia 1 oboInOwl:hasDbXref MESH:C536932 semapv:UnspecifiedMatching -DOID:0110070 arrhythmogenic right ventricular dysplasia 1 oboInOwl:hasDbXref OMIM:107970 semapv:UnspecifiedMatching -DOID:0110070 arrhythmogenic right ventricular dysplasia 1 skos:exactMatch OMIM:107970 semapv:UnspecifiedMatching DOID:0110072 arrhythmogenic right ventricular dysplasia 3 oboInOwl:hasDbXref ICD10CM:I42.8 semapv:UnspecifiedMatching -DOID:0110072 arrhythmogenic right ventricular dysplasia 3 oboInOwl:hasDbXref OMIM:602086 semapv:UnspecifiedMatching -DOID:0110072 arrhythmogenic right ventricular dysplasia 3 skos:exactMatch OMIM:602086 semapv:UnspecifiedMatching DOID:0110073 arrhythmogenic right ventricular dysplasia 4 oboInOwl:hasDbXref ICD10CM:I42.8 semapv:UnspecifiedMatching -DOID:0110073 arrhythmogenic right ventricular dysplasia 4 oboInOwl:hasDbXref OMIM:602087 semapv:UnspecifiedMatching -DOID:0110073 arrhythmogenic right ventricular dysplasia 4 skos:exactMatch OMIM:602087 semapv:UnspecifiedMatching DOID:0110074 arrhythmogenic right ventricular dysplasia 5 oboInOwl:hasDbXref ICD10CM:I42.8 semapv:UnspecifiedMatching -DOID:0110074 arrhythmogenic right ventricular dysplasia 5 oboInOwl:hasDbXref OMIM:604400 semapv:UnspecifiedMatching -DOID:0110074 arrhythmogenic right ventricular dysplasia 5 skos:exactMatch OMIM:604400 semapv:UnspecifiedMatching DOID:0110075 arrhythmogenic right ventricular dysplasia 6 oboInOwl:hasDbXref ICD10CM:I42.8 semapv:UnspecifiedMatching -DOID:0110075 arrhythmogenic right ventricular dysplasia 6 oboInOwl:hasDbXref OMIM:604401 semapv:UnspecifiedMatching -DOID:0110075 arrhythmogenic right ventricular dysplasia 6 skos:exactMatch OMIM:604401 semapv:UnspecifiedMatching DOID:0110076 arrhythmogenic right ventricular dysplasia 8 oboInOwl:hasDbXref ICD10CM:I42.8 semapv:UnspecifiedMatching -DOID:0110076 arrhythmogenic right ventricular dysplasia 8 oboInOwl:hasDbXref OMIM:607450 semapv:UnspecifiedMatching -DOID:0110076 arrhythmogenic right ventricular dysplasia 8 skos:exactMatch OMIM:607450 semapv:UnspecifiedMatching DOID:0110077 arrhythmogenic right ventricular dysplasia 9 oboInOwl:hasDbXref ICD10CM:I42.8 semapv:UnspecifiedMatching -DOID:0110077 arrhythmogenic right ventricular dysplasia 9 oboInOwl:hasDbXref OMIM:609040 semapv:UnspecifiedMatching -DOID:0110077 arrhythmogenic right ventricular dysplasia 9 skos:exactMatch OMIM:609040 semapv:UnspecifiedMatching DOID:0110078 Leber congenital amaurosis 1 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110078 Leber congenital amaurosis 1 oboInOwl:hasDbXref OMIM:204000 semapv:UnspecifiedMatching -DOID:0110078 Leber congenital amaurosis 1 skos:exactMatch OMIM:204000 semapv:UnspecifiedMatching DOID:0110079 Leber congenital amaurosis 8 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110079 Leber congenital amaurosis 8 oboInOwl:hasDbXref OMIM:613835 semapv:UnspecifiedMatching -DOID:0110079 Leber congenital amaurosis 8 skos:exactMatch OMIM:613835 semapv:UnspecifiedMatching DOID:0110080 Leber congenital amaurosis 12 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110080 Leber congenital amaurosis 12 oboInOwl:hasDbXref MESH:C565697 semapv:UnspecifiedMatching -DOID:0110080 Leber congenital amaurosis 12 oboInOwl:hasDbXref OMIM:610612 semapv:UnspecifiedMatching -DOID:0110080 Leber congenital amaurosis 12 skos:exactMatch OMIM:610612 semapv:UnspecifiedMatching DOID:0110081 arrhythmogenic right ventricular dysplasia 10 oboInOwl:hasDbXref ICD10CM:I42.8 semapv:UnspecifiedMatching -DOID:0110081 arrhythmogenic right ventricular dysplasia 10 oboInOwl:hasDbXref OMIM:610193 semapv:UnspecifiedMatching -DOID:0110081 arrhythmogenic right ventricular dysplasia 10 skos:exactMatch OMIM:610193 semapv:UnspecifiedMatching DOID:0110082 arrhythmogenic right ventricular dysplasia 11 oboInOwl:hasDbXref ICD10CM:I42.8 semapv:UnspecifiedMatching -DOID:0110082 arrhythmogenic right ventricular dysplasia 11 oboInOwl:hasDbXref OMIM:610476 semapv:UnspecifiedMatching -DOID:0110082 arrhythmogenic right ventricular dysplasia 11 skos:exactMatch OMIM:610476 semapv:UnspecifiedMatching DOID:0110083 arrhythmogenic right ventricular dysplasia 12 oboInOwl:hasDbXref ICD10CM:I42.8 semapv:UnspecifiedMatching -DOID:0110083 arrhythmogenic right ventricular dysplasia 12 oboInOwl:hasDbXref OMIM:611528 semapv:UnspecifiedMatching -DOID:0110083 arrhythmogenic right ventricular dysplasia 12 skos:exactMatch OMIM:611528 semapv:UnspecifiedMatching DOID:0110084 arrhythmogenic right ventricular dysplasia 13 oboInOwl:hasDbXref ICD10CM:I42.8 semapv:UnspecifiedMatching -DOID:0110084 arrhythmogenic right ventricular dysplasia 13 oboInOwl:hasDbXref OMIM:615616 semapv:UnspecifiedMatching -DOID:0110084 arrhythmogenic right ventricular dysplasia 13 skos:exactMatch OMIM:615616 semapv:UnspecifiedMatching DOID:0110085 asphyxiating thoracic dystrophy 1 oboInOwl:hasDbXref ICD10CM:Q77.2 semapv:UnspecifiedMatching -DOID:0110085 asphyxiating thoracic dystrophy 1 oboInOwl:hasDbXref OMIM:208500 semapv:UnspecifiedMatching -DOID:0110085 asphyxiating thoracic dystrophy 1 skos:exactMatch OMIM:208500 semapv:UnspecifiedMatching DOID:0110086 asphyxiating thoracic dystrophy 2 oboInOwl:hasDbXref ICD10CM:Q77.2 semapv:UnspecifiedMatching DOID:0110086 asphyxiating thoracic dystrophy 2 oboInOwl:hasDbXref MESH:C566982 semapv:UnspecifiedMatching -DOID:0110086 asphyxiating thoracic dystrophy 2 oboInOwl:hasDbXref OMIM:611263 semapv:UnspecifiedMatching -DOID:0110086 asphyxiating thoracic dystrophy 2 skos:exactMatch OMIM:611263 semapv:UnspecifiedMatching DOID:0110087 asphyxiating thoracic dystrophy 3 oboInOwl:hasDbXref ICD10CM:Q77.2 semapv:UnspecifiedMatching -DOID:0110087 asphyxiating thoracic dystrophy 3 oboInOwl:hasDbXref OMIM:613091 semapv:UnspecifiedMatching -DOID:0110087 asphyxiating thoracic dystrophy 3 skos:exactMatch OMIM:613091 semapv:UnspecifiedMatching DOID:0110088 asphyxiating thoracic dystrophy 4 oboInOwl:hasDbXref ICD10CM:Q77.2 semapv:UnspecifiedMatching -DOID:0110088 asphyxiating thoracic dystrophy 4 oboInOwl:hasDbXref OMIM:613819 semapv:UnspecifiedMatching -DOID:0110088 asphyxiating thoracic dystrophy 4 skos:exactMatch OMIM:613819 semapv:UnspecifiedMatching DOID:0110089 asphyxiating thoracic dystrophy 5 oboInOwl:hasDbXref ICD10CM:Q77.2 semapv:UnspecifiedMatching -DOID:0110089 asphyxiating thoracic dystrophy 5 oboInOwl:hasDbXref OMIM:614376 semapv:UnspecifiedMatching -DOID:0110089 asphyxiating thoracic dystrophy 5 skos:exactMatch OMIM:614376 semapv:UnspecifiedMatching DOID:0110090 short-rib thoracic dysplasia 7 with or without polydactyly oboInOwl:hasDbXref ICD10CM:Q77.2 semapv:UnspecifiedMatching -DOID:0110090 short-rib thoracic dysplasia 7 with or without polydactyly oboInOwl:hasDbXref OMIM:614091 semapv:UnspecifiedMatching -DOID:0110090 short-rib thoracic dysplasia 7 with or without polydactyly skos:exactMatch OMIM:614091 semapv:UnspecifiedMatching DOID:0110091 short-rib thoracic dysplasia 10 with or without polydactyly oboInOwl:hasDbXref ICD10CM:Q77.2 semapv:UnspecifiedMatching DOID:0110091 short-rib thoracic dysplasia 10 with or without polydactyly oboInOwl:hasDbXref ICD10CM:Q87.5 semapv:UnspecifiedMatching -DOID:0110091 short-rib thoracic dysplasia 10 with or without polydactyly oboInOwl:hasDbXref OMIM:615630 semapv:UnspecifiedMatching -DOID:0110091 short-rib thoracic dysplasia 10 with or without polydactyly skos:exactMatch OMIM:615630 semapv:UnspecifiedMatching DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly oboInOwl:hasDbXref ICD10CM:Q77.2 semapv:UnspecifiedMatching -DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly oboInOwl:hasDbXref OMIM:263520 semapv:UnspecifiedMatching -DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly skos:exactMatch OMIM:263520 semapv:UnspecifiedMatching DOID:0110093 short-rib thoracic dysplasia 13 with or without polydactyly oboInOwl:hasDbXref ICD10CM:Q77.2 semapv:UnspecifiedMatching -DOID:0110093 short-rib thoracic dysplasia 13 with or without polydactyly oboInOwl:hasDbXref OMIM:616300 semapv:UnspecifiedMatching -DOID:0110093 short-rib thoracic dysplasia 13 with or without polydactyly skos:exactMatch OMIM:616300 semapv:UnspecifiedMatching DOID:0110094 short-rib thoracic dysplasia 8 with or without polydactyly oboInOwl:hasDbXref ICD10CM:Q77.2 semapv:UnspecifiedMatching -DOID:0110094 short-rib thoracic dysplasia 8 with or without polydactyly oboInOwl:hasDbXref OMIM:615503 semapv:UnspecifiedMatching -DOID:0110094 short-rib thoracic dysplasia 8 with or without polydactyly skos:exactMatch OMIM:615503 semapv:UnspecifiedMatching DOID:0110095 short-rib thoracic dysplasia 11 with or without polydactyly oboInOwl:hasDbXref ICD10CM:Q77.2 semapv:UnspecifiedMatching -DOID:0110095 short-rib thoracic dysplasia 11 with or without polydactyly oboInOwl:hasDbXref OMIM:615633 semapv:UnspecifiedMatching -DOID:0110095 short-rib thoracic dysplasia 11 with or without polydactyly skos:exactMatch OMIM:615633 semapv:UnspecifiedMatching DOID:0110096 short-rib thoracic dysplasia 14 with polydactyly oboInOwl:hasDbXref ICD10CM:Q04.3 semapv:UnspecifiedMatching -DOID:0110096 short-rib thoracic dysplasia 14 with polydactyly oboInOwl:hasDbXref OMIM:616546 semapv:UnspecifiedMatching -DOID:0110096 short-rib thoracic dysplasia 14 with polydactyly skos:exactMatch OMIM:616546 semapv:UnspecifiedMatching DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly oboInOwl:hasDbXref ICD10CM:Q87.5 semapv:UnspecifiedMatching -DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly oboInOwl:hasDbXref OMIM:266920 semapv:UnspecifiedMatching -DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly skos:exactMatch OMIM:266920 semapv:UnspecifiedMatching -DOID:0110098 atopic dermatitis 2 oboInOwl:hasDbXref OMIM:605803 semapv:UnspecifiedMatching -DOID:0110098 atopic dermatitis 2 skos:exactMatch OMIM:605803 semapv:UnspecifiedMatching -DOID:0110099 atopic dermatitis 3 oboInOwl:hasDbXref OMIM:605804 semapv:UnspecifiedMatching -DOID:0110099 atopic dermatitis 3 skos:exactMatch OMIM:605804 semapv:UnspecifiedMatching -DOID:0110100 atopic dermatitis 4 oboInOwl:hasDbXref OMIM:605805 semapv:UnspecifiedMatching -DOID:0110100 atopic dermatitis 4 skos:exactMatch OMIM:605805 semapv:UnspecifiedMatching -DOID:0110101 atopic dermatitis 5 oboInOwl:hasDbXref OMIM:605844 semapv:UnspecifiedMatching -DOID:0110101 atopic dermatitis 5 skos:exactMatch OMIM:605844 semapv:UnspecifiedMatching -DOID:0110102 atopic dermatitis 6 oboInOwl:hasDbXref OMIM:605845 semapv:UnspecifiedMatching -DOID:0110102 atopic dermatitis 6 skos:exactMatch OMIM:605845 semapv:UnspecifiedMatching -DOID:0110103 atopic dermatitis 7 oboInOwl:hasDbXref OMIM:613064 semapv:UnspecifiedMatching -DOID:0110103 atopic dermatitis 7 skos:exactMatch OMIM:613064 semapv:UnspecifiedMatching -DOID:0110104 atopic dermatitis 8 oboInOwl:hasDbXref OMIM:613518 semapv:UnspecifiedMatching -DOID:0110104 atopic dermatitis 8 skos:exactMatch OMIM:613518 semapv:UnspecifiedMatching -DOID:0110105 atopic dermatitis 9 oboInOwl:hasDbXref OMIM:613519 semapv:UnspecifiedMatching -DOID:0110105 atopic dermatitis 9 skos:exactMatch OMIM:613519 semapv:UnspecifiedMatching DOID:0110106 atrial heart septal defect 1 oboInOwl:hasDbXref ICD10CM:Q21.1 semapv:UnspecifiedMatching -DOID:0110106 atrial heart septal defect 1 oboInOwl:hasDbXref OMIM:108800 semapv:UnspecifiedMatching -DOID:0110106 atrial heart septal defect 1 skos:exactMatch OMIM:108800 semapv:UnspecifiedMatching DOID:0110107 atrial heart septal defect 2 oboInOwl:hasDbXref ICD10CM:Q21.1 semapv:UnspecifiedMatching -DOID:0110107 atrial heart septal defect 2 oboInOwl:hasDbXref OMIM:607941 semapv:UnspecifiedMatching -DOID:0110107 atrial heart septal defect 2 skos:exactMatch OMIM:607941 semapv:UnspecifiedMatching DOID:0110108 atrial heart septal defect 3 oboInOwl:hasDbXref ICD10CM:Q21.1 semapv:UnspecifiedMatching -DOID:0110108 atrial heart septal defect 3 oboInOwl:hasDbXref OMIM:614089 semapv:UnspecifiedMatching -DOID:0110108 atrial heart septal defect 3 skos:exactMatch OMIM:614089 semapv:UnspecifiedMatching DOID:0110109 atrial heart septal defect 4 oboInOwl:hasDbXref ICD10CM:Q21.1 semapv:UnspecifiedMatching -DOID:0110109 atrial heart septal defect 4 oboInOwl:hasDbXref OMIM:611363 semapv:UnspecifiedMatching -DOID:0110109 atrial heart septal defect 4 skos:exactMatch OMIM:611363 semapv:UnspecifiedMatching DOID:0110110 atrial heart septal defect 5 oboInOwl:hasDbXref ICD10CM:Q21.1 semapv:UnspecifiedMatching -DOID:0110110 atrial heart septal defect 5 oboInOwl:hasDbXref OMIM:612794 semapv:UnspecifiedMatching -DOID:0110110 atrial heart septal defect 5 skos:exactMatch OMIM:612794 semapv:UnspecifiedMatching DOID:0110111 atrial heart septal defect 6 oboInOwl:hasDbXref ICD10CM:Q21.1 semapv:UnspecifiedMatching -DOID:0110111 atrial heart septal defect 6 oboInOwl:hasDbXref OMIM:613087 semapv:UnspecifiedMatching -DOID:0110111 atrial heart septal defect 6 skos:exactMatch OMIM:613087 semapv:UnspecifiedMatching DOID:0110112 atrial heart septal defect 7 oboInOwl:hasDbXref ICD10CM:Q21.1 semapv:UnspecifiedMatching -DOID:0110112 atrial heart septal defect 7 oboInOwl:hasDbXref OMIM:108900 semapv:UnspecifiedMatching DOID:0110112 atrial heart septal defect 7 oboInOwl:hasDbXref ORDO:1479 semapv:UnspecifiedMatching -DOID:0110112 atrial heart septal defect 7 skos:exactMatch OMIM:108900 semapv:UnspecifiedMatching DOID:0110113 atrial heart septal defect 8 oboInOwl:hasDbXref ICD10CM:Q21.1 semapv:UnspecifiedMatching -DOID:0110113 atrial heart septal defect 8 oboInOwl:hasDbXref OMIM:614433 semapv:UnspecifiedMatching -DOID:0110113 atrial heart septal defect 8 skos:exactMatch OMIM:614433 semapv:UnspecifiedMatching DOID:0110114 atrial heart septal defect 9 oboInOwl:hasDbXref ICD10CM:Q21.1 semapv:UnspecifiedMatching -DOID:0110114 atrial heart septal defect 9 oboInOwl:hasDbXref OMIM:614475 semapv:UnspecifiedMatching -DOID:0110114 atrial heart septal defect 9 skos:exactMatch OMIM:614475 semapv:UnspecifiedMatching DOID:0110115 autoimmune lymphoproliferative syndrome type 2A oboInOwl:hasDbXref ICD10CM:D47.9 semapv:UnspecifiedMatching DOID:0110115 autoimmune lymphoproliferative syndrome type 2A oboInOwl:hasDbXref MESH:C565833 semapv:UnspecifiedMatching -DOID:0110115 autoimmune lymphoproliferative syndrome type 2A oboInOwl:hasDbXref OMIM:603909 semapv:UnspecifiedMatching -DOID:0110115 autoimmune lymphoproliferative syndrome type 2A skos:exactMatch OMIM:603909 semapv:UnspecifiedMatching DOID:0110116 autoimmune lymphoproliferative syndrome type 2B oboInOwl:hasDbXref ICD10CM:D47.9 semapv:UnspecifiedMatching -DOID:0110116 autoimmune lymphoproliferative syndrome type 2B oboInOwl:hasDbXref OMIM:607271 semapv:UnspecifiedMatching DOID:0110116 autoimmune lymphoproliferative syndrome type 2B oboInOwl:hasDbXref ORDO:275517 semapv:UnspecifiedMatching -DOID:0110116 autoimmune lymphoproliferative syndrome type 2B skos:exactMatch OMIM:607271 semapv:UnspecifiedMatching DOID:0110117 autoimmune lymphoproliferative syndrome type 4 oboInOwl:hasDbXref ICD10CM:D72.8 semapv:UnspecifiedMatching -DOID:0110117 autoimmune lymphoproliferative syndrome type 4 oboInOwl:hasDbXref OMIM:614470 semapv:UnspecifiedMatching DOID:0110117 autoimmune lymphoproliferative syndrome type 4 oboInOwl:hasDbXref ORDO:268114 semapv:UnspecifiedMatching -DOID:0110117 autoimmune lymphoproliferative syndrome type 4 skos:exactMatch OMIM:614470 semapv:UnspecifiedMatching DOID:0110118 Leber congenital amaurosis 16 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110118 Leber congenital amaurosis 16 oboInOwl:hasDbXref OMIM:614186 semapv:UnspecifiedMatching -DOID:0110118 Leber congenital amaurosis 16 skos:exactMatch OMIM:614186 semapv:UnspecifiedMatching -DOID:0110119 autoimmune lymphoproliferative syndrome type 3 oboInOwl:hasDbXref OMIM:615559 semapv:UnspecifiedMatching -DOID:0110119 autoimmune lymphoproliferative syndrome type 3 skos:exactMatch OMIM:615559 semapv:UnspecifiedMatching DOID:0110120 Axenfeld-Rieger syndrome type 1 oboInOwl:hasDbXref ICD10CM:Q13.8 semapv:UnspecifiedMatching -DOID:0110120 Axenfeld-Rieger syndrome type 1 oboInOwl:hasDbXref OMIM:180500 semapv:UnspecifiedMatching -DOID:0110120 Axenfeld-Rieger syndrome type 1 skos:exactMatch OMIM:180500 semapv:UnspecifiedMatching DOID:0110121 Axenfeld-Rieger syndrome type 2 oboInOwl:hasDbXref ICD10CM:Q13.8 semapv:UnspecifiedMatching -DOID:0110121 Axenfeld-Rieger syndrome type 2 oboInOwl:hasDbXref OMIM:601499 semapv:UnspecifiedMatching -DOID:0110121 Axenfeld-Rieger syndrome type 2 skos:exactMatch OMIM:601499 semapv:UnspecifiedMatching DOID:0110122 Axenfeld-Rieger syndrome type 3 oboInOwl:hasDbXref ICD10CM:Q13.8 semapv:UnspecifiedMatching -DOID:0110122 Axenfeld-Rieger syndrome type 3 oboInOwl:hasDbXref OMIM:602482 semapv:UnspecifiedMatching -DOID:0110122 Axenfeld-Rieger syndrome type 3 skos:exactMatch OMIM:602482 semapv:UnspecifiedMatching DOID:0110123 Bardet-Biedl syndrome 1 oboInOwl:hasDbXref GARD:820 semapv:UnspecifiedMatching DOID:0110123 Bardet-Biedl syndrome 1 oboInOwl:hasDbXref ICD10CM:Q87.89 semapv:UnspecifiedMatching DOID:0110123 Bardet-Biedl syndrome 1 oboInOwl:hasDbXref MESH:C537909 semapv:UnspecifiedMatching -DOID:0110123 Bardet-Biedl syndrome 1 oboInOwl:hasDbXref OMIM:209900 semapv:UnspecifiedMatching -DOID:0110123 Bardet-Biedl syndrome 1 skos:exactMatch OMIM:209900 semapv:UnspecifiedMatching DOID:0110124 Bardet-Biedl syndrome 2 oboInOwl:hasDbXref GARD:821 semapv:UnspecifiedMatching DOID:0110124 Bardet-Biedl syndrome 2 oboInOwl:hasDbXref ICD10CM:Q87.89 semapv:UnspecifiedMatching DOID:0110124 Bardet-Biedl syndrome 2 oboInOwl:hasDbXref MESH:C537910 semapv:UnspecifiedMatching -DOID:0110124 Bardet-Biedl syndrome 2 oboInOwl:hasDbXref OMIM:615981 semapv:UnspecifiedMatching -DOID:0110124 Bardet-Biedl syndrome 2 skos:exactMatch OMIM:615981 semapv:UnspecifiedMatching DOID:0110125 Bardet-Biedl syndrome 3 oboInOwl:hasDbXref GARD:822 semapv:UnspecifiedMatching DOID:0110125 Bardet-Biedl syndrome 3 oboInOwl:hasDbXref ICD10CM:Q87.89 semapv:UnspecifiedMatching DOID:0110125 Bardet-Biedl syndrome 3 oboInOwl:hasDbXref MESH:C537911 semapv:UnspecifiedMatching -DOID:0110125 Bardet-Biedl syndrome 3 oboInOwl:hasDbXref OMIM:600151 semapv:UnspecifiedMatching -DOID:0110125 Bardet-Biedl syndrome 3 skos:exactMatch OMIM:600151 semapv:UnspecifiedMatching DOID:0110126 Bardet-Biedl syndrome 4 oboInOwl:hasDbXref GARD:823 semapv:UnspecifiedMatching DOID:0110126 Bardet-Biedl syndrome 4 oboInOwl:hasDbXref ICD10CM:Q87.89 semapv:UnspecifiedMatching DOID:0110126 Bardet-Biedl syndrome 4 oboInOwl:hasDbXref MESH:C537912 semapv:UnspecifiedMatching -DOID:0110126 Bardet-Biedl syndrome 4 oboInOwl:hasDbXref OMIM:615982 semapv:UnspecifiedMatching -DOID:0110126 Bardet-Biedl syndrome 4 skos:exactMatch OMIM:615982 semapv:UnspecifiedMatching DOID:0110127 Bardet-Biedl syndrome 5 oboInOwl:hasDbXref GARD:10204 semapv:UnspecifiedMatching DOID:0110127 Bardet-Biedl syndrome 5 oboInOwl:hasDbXref ICD10CM:Q87.89 semapv:UnspecifiedMatching -DOID:0110127 Bardet-Biedl syndrome 5 oboInOwl:hasDbXref OMIM:615983 semapv:UnspecifiedMatching -DOID:0110127 Bardet-Biedl syndrome 5 skos:exactMatch OMIM:615983 semapv:UnspecifiedMatching DOID:0110128 Bardet-Biedl syndrome 6 oboInOwl:hasDbXref GARD:10205 semapv:UnspecifiedMatching DOID:0110128 Bardet-Biedl syndrome 6 oboInOwl:hasDbXref ICD10CM:Q87.89 semapv:UnspecifiedMatching DOID:0110128 Bardet-Biedl syndrome 6 oboInOwl:hasDbXref MESH:C565738 semapv:UnspecifiedMatching -DOID:0110128 Bardet-Biedl syndrome 6 oboInOwl:hasDbXref OMIM:605231 semapv:UnspecifiedMatching -DOID:0110128 Bardet-Biedl syndrome 6 skos:exactMatch OMIM:605231 semapv:UnspecifiedMatching DOID:0110129 Bardet-Biedl syndrome 7 oboInOwl:hasDbXref GARD:10206 semapv:UnspecifiedMatching DOID:0110129 Bardet-Biedl syndrome 7 oboInOwl:hasDbXref ICD10CM:Q87.89 semapv:UnspecifiedMatching DOID:0110129 Bardet-Biedl syndrome 7 oboInOwl:hasDbXref MESH:C565916 semapv:UnspecifiedMatching -DOID:0110129 Bardet-Biedl syndrome 7 oboInOwl:hasDbXref OMIM:615984 semapv:UnspecifiedMatching -DOID:0110129 Bardet-Biedl syndrome 7 skos:exactMatch OMIM:615984 semapv:UnspecifiedMatching DOID:0110130 Bardet-Biedl syndrome 8 oboInOwl:hasDbXref GARD:10207 semapv:UnspecifiedMatching DOID:0110130 Bardet-Biedl syndrome 8 oboInOwl:hasDbXref ICD10CM:Q87.89 semapv:UnspecifiedMatching DOID:0110130 Bardet-Biedl syndrome 8 oboInOwl:hasDbXref MESH:C565917 semapv:UnspecifiedMatching -DOID:0110130 Bardet-Biedl syndrome 8 oboInOwl:hasDbXref OMIM:615985 semapv:UnspecifiedMatching -DOID:0110130 Bardet-Biedl syndrome 8 skos:exactMatch OMIM:615985 semapv:UnspecifiedMatching DOID:0110131 Bardet-Biedl syndrome 9 oboInOwl:hasDbXref GARD:10208 semapv:UnspecifiedMatching DOID:0110131 Bardet-Biedl syndrome 9 oboInOwl:hasDbXref ICD10CM:Q87.89 semapv:UnspecifiedMatching DOID:0110131 Bardet-Biedl syndrome 9 oboInOwl:hasDbXref MESH:C565918 semapv:UnspecifiedMatching -DOID:0110131 Bardet-Biedl syndrome 9 oboInOwl:hasDbXref OMIM:615986 semapv:UnspecifiedMatching -DOID:0110131 Bardet-Biedl syndrome 9 skos:exactMatch OMIM:615986 semapv:UnspecifiedMatching DOID:0110132 Bardet-Biedl syndrome 10 oboInOwl:hasDbXref GARD:10209 semapv:UnspecifiedMatching DOID:0110132 Bardet-Biedl syndrome 10 oboInOwl:hasDbXref ICD10CM:Q87.89 semapv:UnspecifiedMatching DOID:0110132 Bardet-Biedl syndrome 10 oboInOwl:hasDbXref MESH:C565919 semapv:UnspecifiedMatching -DOID:0110132 Bardet-Biedl syndrome 10 oboInOwl:hasDbXref OMIM:615987 semapv:UnspecifiedMatching -DOID:0110132 Bardet-Biedl syndrome 10 skos:exactMatch OMIM:615987 semapv:UnspecifiedMatching DOID:0110133 Bardet-Biedl syndrome 11 oboInOwl:hasDbXref GARD:10210 semapv:UnspecifiedMatching DOID:0110133 Bardet-Biedl syndrome 11 oboInOwl:hasDbXref ICD10CM:Q87.89 semapv:UnspecifiedMatching DOID:0110133 Bardet-Biedl syndrome 11 oboInOwl:hasDbXref MESH:C565920 semapv:UnspecifiedMatching -DOID:0110133 Bardet-Biedl syndrome 11 oboInOwl:hasDbXref OMIM:615988 semapv:UnspecifiedMatching -DOID:0110133 Bardet-Biedl syndrome 11 skos:exactMatch OMIM:615988 semapv:UnspecifiedMatching DOID:0110134 Bardet-Biedl syndrome 12 oboInOwl:hasDbXref GARD:10211 semapv:UnspecifiedMatching DOID:0110134 Bardet-Biedl syndrome 12 oboInOwl:hasDbXref ICD10CM:Q87.89 semapv:UnspecifiedMatching DOID:0110134 Bardet-Biedl syndrome 12 oboInOwl:hasDbXref MESH:C565921 semapv:UnspecifiedMatching -DOID:0110134 Bardet-Biedl syndrome 12 oboInOwl:hasDbXref OMIM:615989 semapv:UnspecifiedMatching -DOID:0110134 Bardet-Biedl syndrome 12 skos:exactMatch OMIM:615989 semapv:UnspecifiedMatching DOID:0110135 Bardet-Biedl syndrome 13 oboInOwl:hasDbXref ICD10CM:Q87.89 semapv:UnspecifiedMatching DOID:0110135 Bardet-Biedl syndrome 13 oboInOwl:hasDbXref MESH:C567140 semapv:UnspecifiedMatching -DOID:0110135 Bardet-Biedl syndrome 13 oboInOwl:hasDbXref OMIM:615990 semapv:UnspecifiedMatching -DOID:0110135 Bardet-Biedl syndrome 13 skos:exactMatch OMIM:615990 semapv:UnspecifiedMatching DOID:0110136 Bardet-Biedl syndrome 14 oboInOwl:hasDbXref ICD10CM:Q87.89 semapv:UnspecifiedMatching DOID:0110136 Bardet-Biedl syndrome 14 oboInOwl:hasDbXref MESH:C567141 semapv:UnspecifiedMatching -DOID:0110136 Bardet-Biedl syndrome 14 oboInOwl:hasDbXref OMIM:615991 semapv:UnspecifiedMatching -DOID:0110136 Bardet-Biedl syndrome 14 skos:exactMatch OMIM:615991 semapv:UnspecifiedMatching DOID:0110137 Bardet-Biedl syndrome 15 oboInOwl:hasDbXref ICD10CM:Q87.89 semapv:UnspecifiedMatching -DOID:0110137 Bardet-Biedl syndrome 15 oboInOwl:hasDbXref OMIM:615992 semapv:UnspecifiedMatching -DOID:0110137 Bardet-Biedl syndrome 15 skos:exactMatch OMIM:615992 semapv:UnspecifiedMatching DOID:0110138 Bardet-Biedl syndrome 16 oboInOwl:hasDbXref ICD10CM:Q87.89 semapv:UnspecifiedMatching -DOID:0110138 Bardet-Biedl syndrome 16 oboInOwl:hasDbXref OMIM:615993 semapv:UnspecifiedMatching -DOID:0110138 Bardet-Biedl syndrome 16 skos:exactMatch OMIM:615993 semapv:UnspecifiedMatching DOID:0110139 Bardet-Biedl syndrome 17 oboInOwl:hasDbXref ICD10CM:Q87.89 semapv:UnspecifiedMatching -DOID:0110139 Bardet-Biedl syndrome 17 oboInOwl:hasDbXref OMIM:615994 semapv:UnspecifiedMatching -DOID:0110139 Bardet-Biedl syndrome 17 skos:exactMatch OMIM:615994 semapv:UnspecifiedMatching DOID:0110140 Bardet-Biedl syndrome 18 oboInOwl:hasDbXref ICD10CM:Q87.89 semapv:UnspecifiedMatching -DOID:0110140 Bardet-Biedl syndrome 18 oboInOwl:hasDbXref OMIM:615995 semapv:UnspecifiedMatching -DOID:0110140 Bardet-Biedl syndrome 18 skos:exactMatch OMIM:615995 semapv:UnspecifiedMatching DOID:0110141 Bardet-Biedl syndrome 19 oboInOwl:hasDbXref ICD10CM:Q87.89 semapv:UnspecifiedMatching -DOID:0110141 Bardet-Biedl syndrome 19 oboInOwl:hasDbXref OMIM:615996 semapv:UnspecifiedMatching -DOID:0110141 Bardet-Biedl syndrome 19 skos:exactMatch OMIM:615996 semapv:UnspecifiedMatching DOID:0110142 Bartter disease type 1 oboInOwl:hasDbXref ICD10CM:E26.8 semapv:UnspecifiedMatching -DOID:0110142 Bartter disease type 1 oboInOwl:hasDbXref OMIM:601678 semapv:UnspecifiedMatching -DOID:0110142 Bartter disease type 1 skos:exactMatch OMIM:601678 semapv:UnspecifiedMatching DOID:0110143 Bartter disease type 2 oboInOwl:hasDbXref ICD10CM:E26.8 semapv:UnspecifiedMatching -DOID:0110143 Bartter disease type 2 oboInOwl:hasDbXref OMIM:241200 semapv:UnspecifiedMatching -DOID:0110143 Bartter disease type 2 skos:exactMatch OMIM:241200 semapv:UnspecifiedMatching DOID:0110144 Bartter disease type 3 oboInOwl:hasDbXref GARD:9659 semapv:UnspecifiedMatching DOID:0110144 Bartter disease type 3 oboInOwl:hasDbXref ICD10CM:E26.8 semapv:UnspecifiedMatching -DOID:0110144 Bartter disease type 3 oboInOwl:hasDbXref OMIM:607364 semapv:UnspecifiedMatching -DOID:0110144 Bartter disease type 3 skos:exactMatch OMIM:607364 semapv:UnspecifiedMatching DOID:0110145 Bartter disease type 4a oboInOwl:hasDbXref ICD10CM:E26.8 semapv:UnspecifiedMatching -DOID:0110145 Bartter disease type 4a oboInOwl:hasDbXref OMIM:602522 semapv:UnspecifiedMatching -DOID:0110145 Bartter disease type 4a skos:exactMatch OMIM:602522 semapv:UnspecifiedMatching DOID:0110146 Bartter disease type 4b oboInOwl:hasDbXref ICD10CM:E26.8 semapv:UnspecifiedMatching -DOID:0110146 Bartter disease type 4b oboInOwl:hasDbXref OMIM:613090 semapv:UnspecifiedMatching -DOID:0110146 Bartter disease type 4b skos:exactMatch OMIM:613090 semapv:UnspecifiedMatching DOID:0110147 Bartter disease type 5 oboInOwl:hasDbXref ICD10CM:E26.8 semapv:UnspecifiedMatching -DOID:0110147 Bartter disease type 5 oboInOwl:hasDbXref OMIM:300971 semapv:UnspecifiedMatching -DOID:0110147 Bartter disease type 5 skos:exactMatch OMIM:300971 semapv:UnspecifiedMatching DOID:0110148 Charcot-Marie-Tooth disease type 1A oboInOwl:hasDbXref GARD:1245 semapv:UnspecifiedMatching DOID:0110148 Charcot-Marie-Tooth disease type 1A oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching -DOID:0110148 Charcot-Marie-Tooth disease type 1A oboInOwl:hasDbXref OMIM:118220 semapv:UnspecifiedMatching DOID:0110148 Charcot-Marie-Tooth disease type 1A oboInOwl:hasDbXref ORDO:101081 semapv:UnspecifiedMatching -DOID:0110148 Charcot-Marie-Tooth disease type 1A skos:exactMatch OMIM:118220 semapv:UnspecifiedMatching DOID:0110149 Charcot-Marie-Tooth disease type 1F oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching -DOID:0110149 Charcot-Marie-Tooth disease type 1F oboInOwl:hasDbXref OMIM:607734 semapv:UnspecifiedMatching DOID:0110149 Charcot-Marie-Tooth disease type 1F oboInOwl:hasDbXref ORDO:101085 semapv:UnspecifiedMatching -DOID:0110149 Charcot-Marie-Tooth disease type 1F skos:exactMatch OMIM:607734 semapv:UnspecifiedMatching DOID:0110150 Charcot-Marie-Tooth disease type 1D oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110150 Charcot-Marie-Tooth disease type 1D oboInOwl:hasDbXref MESH:C537985 semapv:UnspecifiedMatching -DOID:0110150 Charcot-Marie-Tooth disease type 1D oboInOwl:hasDbXref OMIM:607678 semapv:UnspecifiedMatching DOID:0110150 Charcot-Marie-Tooth disease type 1D oboInOwl:hasDbXref ORDO:101084 semapv:UnspecifiedMatching -DOID:0110150 Charcot-Marie-Tooth disease type 1D skos:exactMatch OMIM:607678 semapv:UnspecifiedMatching DOID:0110151 Charcot-Marie-Tooth disease type 1C oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110151 Charcot-Marie-Tooth disease type 1C oboInOwl:hasDbXref MESH:C537984 semapv:UnspecifiedMatching -DOID:0110151 Charcot-Marie-Tooth disease type 1C oboInOwl:hasDbXref OMIM:601098 semapv:UnspecifiedMatching DOID:0110151 Charcot-Marie-Tooth disease type 1C oboInOwl:hasDbXref ORDO:101083 semapv:UnspecifiedMatching -DOID:0110151 Charcot-Marie-Tooth disease type 1C skos:exactMatch OMIM:601098 semapv:UnspecifiedMatching DOID:0110152 Charcot-Marie-Tooth disease type 1B oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching -DOID:0110152 Charcot-Marie-Tooth disease type 1B oboInOwl:hasDbXref OMIM:118200 semapv:UnspecifiedMatching DOID:0110152 Charcot-Marie-Tooth disease type 1B oboInOwl:hasDbXref ORDO:101082 semapv:UnspecifiedMatching -DOID:0110152 Charcot-Marie-Tooth disease type 1B skos:exactMatch OMIM:118200 semapv:UnspecifiedMatching DOID:0110153 Charcot-Marie-Tooth disease type 1E oboInOwl:hasDbXref GARD:9190 semapv:UnspecifiedMatching DOID:0110153 Charcot-Marie-Tooth disease type 1E oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching -DOID:0110153 Charcot-Marie-Tooth disease type 1E oboInOwl:hasDbXref OMIM:118300 semapv:UnspecifiedMatching DOID:0110153 Charcot-Marie-Tooth disease type 1E oboInOwl:hasDbXref ORDO:90658 semapv:UnspecifiedMatching -DOID:0110153 Charcot-Marie-Tooth disease type 1E skos:exactMatch OMIM:118300 semapv:UnspecifiedMatching DOID:0110154 Charcot-Marie-Tooth disease type 2A1 oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching -DOID:0110154 Charcot-Marie-Tooth disease type 2A1 oboInOwl:hasDbXref OMIM:118210 semapv:UnspecifiedMatching DOID:0110154 Charcot-Marie-Tooth disease type 2A1 oboInOwl:hasDbXref ORDO:99946 semapv:UnspecifiedMatching -DOID:0110154 Charcot-Marie-Tooth disease type 2A1 skos:exactMatch OMIM:118210 semapv:UnspecifiedMatching DOID:0110155 Charcot-Marie-Tooth disease type 2A2A oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching -DOID:0110155 Charcot-Marie-Tooth disease type 2A2A oboInOwl:hasDbXref OMIM:609260 semapv:UnspecifiedMatching DOID:0110155 Charcot-Marie-Tooth disease type 2A2A oboInOwl:hasDbXref ORDO:99947 semapv:UnspecifiedMatching -DOID:0110155 Charcot-Marie-Tooth disease type 2A2A skos:exactMatch OMIM:609260 semapv:UnspecifiedMatching DOID:0110156 Charcot-Marie-Tooth disease type 2B1 oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110156 Charcot-Marie-Tooth disease type 2B1 oboInOwl:hasDbXref MESH:C537990 semapv:UnspecifiedMatching -DOID:0110156 Charcot-Marie-Tooth disease type 2B1 oboInOwl:hasDbXref OMIM:605588 semapv:UnspecifiedMatching DOID:0110156 Charcot-Marie-Tooth disease type 2B1 oboInOwl:hasDbXref ORDO:98856 semapv:UnspecifiedMatching -DOID:0110156 Charcot-Marie-Tooth disease type 2B1 skos:exactMatch OMIM:605588 semapv:UnspecifiedMatching DOID:0110157 Charcot-Marie-Tooth disease type 2J oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching -DOID:0110157 Charcot-Marie-Tooth disease type 2J oboInOwl:hasDbXref OMIM:607736 semapv:UnspecifiedMatching DOID:0110157 Charcot-Marie-Tooth disease type 2J oboInOwl:hasDbXref ORDO:99943 semapv:UnspecifiedMatching -DOID:0110157 Charcot-Marie-Tooth disease type 2J skos:exactMatch OMIM:607736 semapv:UnspecifiedMatching DOID:0110158 Charcot-Marie-Tooth disease type 2I oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110158 Charcot-Marie-Tooth disease type 2I oboInOwl:hasDbXref MESH:C535416 semapv:UnspecifiedMatching -DOID:0110158 Charcot-Marie-Tooth disease type 2I oboInOwl:hasDbXref OMIM:607677 semapv:UnspecifiedMatching DOID:0110158 Charcot-Marie-Tooth disease type 2I oboInOwl:hasDbXref ORDO:99942 semapv:UnspecifiedMatching -DOID:0110158 Charcot-Marie-Tooth disease type 2I skos:exactMatch OMIM:607677 semapv:UnspecifiedMatching DOID:0110159 Charcot-Marie-Tooth disease type 2B oboInOwl:hasDbXref GARD:9192 semapv:UnspecifiedMatching DOID:0110159 Charcot-Marie-Tooth disease type 2B oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110159 Charcot-Marie-Tooth disease type 2B oboInOwl:hasDbXref MESH:C537989 semapv:UnspecifiedMatching -DOID:0110159 Charcot-Marie-Tooth disease type 2B oboInOwl:hasDbXref OMIM:600882 semapv:UnspecifiedMatching DOID:0110159 Charcot-Marie-Tooth disease type 2B oboInOwl:hasDbXref ORDO:99936 semapv:UnspecifiedMatching -DOID:0110159 Charcot-Marie-Tooth disease type 2B skos:exactMatch OMIM:600882 semapv:UnspecifiedMatching DOID:0110160 Charcot-Marie-Tooth disease axonal type 2T oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching -DOID:0110160 Charcot-Marie-Tooth disease axonal type 2T oboInOwl:hasDbXref OMIM:617017 semapv:UnspecifiedMatching DOID:0110160 Charcot-Marie-Tooth disease axonal type 2T oboInOwl:hasDbXref ORDO:443950 semapv:UnspecifiedMatching -DOID:0110160 Charcot-Marie-Tooth disease axonal type 2T skos:exactMatch OMIM:617017 semapv:UnspecifiedMatching DOID:0110161 Charcot-Marie-Tooth disease type 2R oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching -DOID:0110161 Charcot-Marie-Tooth disease type 2R oboInOwl:hasDbXref OMIM:615490 semapv:UnspecifiedMatching DOID:0110161 Charcot-Marie-Tooth disease type 2R oboInOwl:hasDbXref ORDO:397968 semapv:UnspecifiedMatching -DOID:0110161 Charcot-Marie-Tooth disease type 2R skos:exactMatch OMIM:615490 semapv:UnspecifiedMatching -DOID:0110162 Charcot-Marie-Tooth disease, axonal type 2W oboInOwl:hasDbXref OMIM:616625 semapv:UnspecifiedMatching -DOID:0110162 Charcot-Marie-Tooth disease, axonal type 2W skos:exactMatch OMIM:616625 semapv:UnspecifiedMatching DOID:0110163 Charcot-Marie-Tooth disease axonal type 2F oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching -DOID:0110163 Charcot-Marie-Tooth disease axonal type 2F oboInOwl:hasDbXref OMIM:606595 semapv:UnspecifiedMatching DOID:0110163 Charcot-Marie-Tooth disease axonal type 2F oboInOwl:hasDbXref ORDO:99940 semapv:UnspecifiedMatching -DOID:0110163 Charcot-Marie-Tooth disease axonal type 2F skos:exactMatch OMIM:606595 semapv:UnspecifiedMatching DOID:0110164 Charcot-Marie-Tooth disease type 2D oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching -DOID:0110164 Charcot-Marie-Tooth disease type 2D oboInOwl:hasDbXref OMIM:601472 semapv:UnspecifiedMatching DOID:0110164 Charcot-Marie-Tooth disease type 2D oboInOwl:hasDbXref ORDO:99938 semapv:UnspecifiedMatching -DOID:0110164 Charcot-Marie-Tooth disease type 2D skos:exactMatch OMIM:601472 semapv:UnspecifiedMatching DOID:0110165 Charcot-Marie-Tooth disease type 2E oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching -DOID:0110165 Charcot-Marie-Tooth disease type 2E oboInOwl:hasDbXref OMIM:607684 semapv:UnspecifiedMatching DOID:0110165 Charcot-Marie-Tooth disease type 2E oboInOwl:hasDbXref ORDO:99939 semapv:UnspecifiedMatching -DOID:0110165 Charcot-Marie-Tooth disease type 2E skos:exactMatch OMIM:607684 semapv:UnspecifiedMatching DOID:0110166 Charcot-Marie-Tooth disease axonal type 2H oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching -DOID:0110166 Charcot-Marie-Tooth disease axonal type 2H oboInOwl:hasDbXref OMIM:607731 semapv:UnspecifiedMatching DOID:0110166 Charcot-Marie-Tooth disease axonal type 2H oboInOwl:hasDbXref ORDO:101102 semapv:UnspecifiedMatching -DOID:0110166 Charcot-Marie-Tooth disease axonal type 2H skos:exactMatch OMIM:607731 semapv:UnspecifiedMatching DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching -DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K oboInOwl:hasDbXref OMIM:607831 semapv:UnspecifiedMatching DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K oboInOwl:hasDbXref ORDO:101097 semapv:UnspecifiedMatching -DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K skos:exactMatch OMIM:607831 semapv:UnspecifiedMatching DOID:0110168 Charcot-Marie-Tooth disease type 2Y oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching -DOID:0110168 Charcot-Marie-Tooth disease type 2Y oboInOwl:hasDbXref OMIM:616687 semapv:UnspecifiedMatching DOID:0110168 Charcot-Marie-Tooth disease type 2Y oboInOwl:hasDbXref ORDO:435387 semapv:UnspecifiedMatching -DOID:0110168 Charcot-Marie-Tooth disease type 2Y skos:exactMatch OMIM:616687 semapv:UnspecifiedMatching DOID:0110169 Charcot-Marie-Tooth disease axonal type 2P oboInOwl:hasDbXref GARD:12435 semapv:UnspecifiedMatching DOID:0110169 Charcot-Marie-Tooth disease axonal type 2P oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching -DOID:0110169 Charcot-Marie-Tooth disease axonal type 2P oboInOwl:hasDbXref OMIM:614436 semapv:UnspecifiedMatching DOID:0110169 Charcot-Marie-Tooth disease axonal type 2P oboInOwl:hasDbXref ORDO:300319 semapv:UnspecifiedMatching -DOID:0110169 Charcot-Marie-Tooth disease axonal type 2P skos:exactMatch OMIM:614436 semapv:UnspecifiedMatching DOID:0110170 Charcot-Marie-Tooth disease axonal type 2Q oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching -DOID:0110170 Charcot-Marie-Tooth disease axonal type 2Q oboInOwl:hasDbXref OMIM:615025 semapv:UnspecifiedMatching DOID:0110170 Charcot-Marie-Tooth disease axonal type 2Q oboInOwl:hasDbXref ORDO:329258 semapv:UnspecifiedMatching -DOID:0110170 Charcot-Marie-Tooth disease axonal type 2Q skos:exactMatch OMIM:615025 semapv:UnspecifiedMatching -DOID:0110171 Charcot-Marie-Tooth disease axonal type 2S oboInOwl:hasDbXref OMIM:616155 semapv:UnspecifiedMatching DOID:0110171 Charcot-Marie-Tooth disease axonal type 2S oboInOwl:hasDbXref ORDO:443073 semapv:UnspecifiedMatching -DOID:0110171 Charcot-Marie-Tooth disease axonal type 2S skos:exactMatch OMIM:616155 semapv:UnspecifiedMatching DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching -DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U oboInOwl:hasDbXref OMIM:616280 semapv:UnspecifiedMatching DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U oboInOwl:hasDbXref ORDO:397735 semapv:UnspecifiedMatching -DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U skos:exactMatch OMIM:616280 semapv:UnspecifiedMatching DOID:0110174 Charcot-Marie-Tooth disease axonal type 2L oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching -DOID:0110174 Charcot-Marie-Tooth disease axonal type 2L oboInOwl:hasDbXref OMIM:608673 semapv:UnspecifiedMatching DOID:0110174 Charcot-Marie-Tooth disease axonal type 2L oboInOwl:hasDbXref ORDO:99945 semapv:UnspecifiedMatching -DOID:0110174 Charcot-Marie-Tooth disease axonal type 2L skos:exactMatch OMIM:608673 semapv:UnspecifiedMatching DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching -DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O oboInOwl:hasDbXref OMIM:614228 semapv:UnspecifiedMatching DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O oboInOwl:hasDbXref ORDO:284232 semapv:UnspecifiedMatching -DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O skos:exactMatch OMIM:614228 semapv:UnspecifiedMatching -DOID:0110176 Charcot-Marie-Tooth disease axonal type 2X oboInOwl:hasDbXref OMIM:616668 semapv:UnspecifiedMatching DOID:0110176 Charcot-Marie-Tooth disease axonal type 2X oboInOwl:hasDbXref ORDO:466775 semapv:UnspecifiedMatching -DOID:0110176 Charcot-Marie-Tooth disease axonal type 2X skos:exactMatch OMIM:616668 semapv:UnspecifiedMatching DOID:0110177 Charcot-Marie-Tooth disease axonal type 2N oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching -DOID:0110177 Charcot-Marie-Tooth disease axonal type 2N oboInOwl:hasDbXref OMIM:613287 semapv:UnspecifiedMatching DOID:0110177 Charcot-Marie-Tooth disease axonal type 2N oboInOwl:hasDbXref ORDO:228174 semapv:UnspecifiedMatching -DOID:0110177 Charcot-Marie-Tooth disease axonal type 2N skos:exactMatch OMIM:613287 semapv:UnspecifiedMatching -DOID:0110178 Charcot-Marie-Tooth disease axonal type 2V oboInOwl:hasDbXref OMIM:616491 semapv:UnspecifiedMatching DOID:0110178 Charcot-Marie-Tooth disease axonal type 2V oboInOwl:hasDbXref ORDO:447964 semapv:UnspecifiedMatching -DOID:0110178 Charcot-Marie-Tooth disease axonal type 2V skos:exactMatch OMIM:616491 semapv:UnspecifiedMatching DOID:0110179 Charcot-Marie-Tooth disease type 2B2 oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110179 Charcot-Marie-Tooth disease type 2B2 oboInOwl:hasDbXref MESH:C537991 semapv:UnspecifiedMatching -DOID:0110179 Charcot-Marie-Tooth disease type 2B2 oboInOwl:hasDbXref OMIM:605589 semapv:UnspecifiedMatching DOID:0110179 Charcot-Marie-Tooth disease type 2B2 oboInOwl:hasDbXref ORDO:101101 semapv:UnspecifiedMatching -DOID:0110179 Charcot-Marie-Tooth disease type 2B2 skos:exactMatch OMIM:605589 semapv:UnspecifiedMatching -DOID:0110180 Charcot-Marie-Tooth disease axonal type 2CC oboInOwl:hasDbXref OMIM:616924 semapv:UnspecifiedMatching -DOID:0110180 Charcot-Marie-Tooth disease axonal type 2CC skos:exactMatch OMIM:616924 semapv:UnspecifiedMatching -DOID:0110181 Charcot-Marie-Tooth disease axonal type 2Z oboInOwl:hasDbXref OMIM:616688 semapv:UnspecifiedMatching DOID:0110181 Charcot-Marie-Tooth disease axonal type 2Z oboInOwl:hasDbXref ORDO:466768 semapv:UnspecifiedMatching -DOID:0110181 Charcot-Marie-Tooth disease axonal type 2Z skos:exactMatch OMIM:616688 semapv:UnspecifiedMatching DOID:0110182 Charcot-Marie-Tooth disease axonal type 2C oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching -DOID:0110182 Charcot-Marie-Tooth disease axonal type 2C oboInOwl:hasDbXref OMIM:606071 semapv:UnspecifiedMatching DOID:0110182 Charcot-Marie-Tooth disease axonal type 2C oboInOwl:hasDbXref ORDO:99937 semapv:UnspecifiedMatching -DOID:0110182 Charcot-Marie-Tooth disease axonal type 2C skos:exactMatch OMIM:606071 semapv:UnspecifiedMatching DOID:0110183 Charcot-Marie-Tooth disease type 4C oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching -DOID:0110183 Charcot-Marie-Tooth disease type 4C oboInOwl:hasDbXref OMIM:601596 semapv:UnspecifiedMatching DOID:0110183 Charcot-Marie-Tooth disease type 4C oboInOwl:hasDbXref ORDO:99949 semapv:UnspecifiedMatching -DOID:0110183 Charcot-Marie-Tooth disease type 4C skos:exactMatch OMIM:601596 semapv:UnspecifiedMatching DOID:0110184 Charcot-Marie-Tooth disease type 4J oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching -DOID:0110184 Charcot-Marie-Tooth disease type 4J oboInOwl:hasDbXref OMIM:611228 semapv:UnspecifiedMatching DOID:0110184 Charcot-Marie-Tooth disease type 4J oboInOwl:hasDbXref ORDO:139515 semapv:UnspecifiedMatching -DOID:0110184 Charcot-Marie-Tooth disease type 4J skos:exactMatch OMIM:611228 semapv:UnspecifiedMatching DOID:0110185 Charcot-Marie-Tooth disease type 4A oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110185 Charcot-Marie-Tooth disease type 4A oboInOwl:hasDbXref MESH:C535419 semapv:UnspecifiedMatching -DOID:0110185 Charcot-Marie-Tooth disease type 4A oboInOwl:hasDbXref OMIM:214400 semapv:UnspecifiedMatching DOID:0110185 Charcot-Marie-Tooth disease type 4A oboInOwl:hasDbXref ORDO:99948 semapv:UnspecifiedMatching -DOID:0110185 Charcot-Marie-Tooth disease type 4A skos:exactMatch OMIM:214400 semapv:UnspecifiedMatching DOID:0110186 Charcot-Marie-Tooth disease type 4D oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching -DOID:0110186 Charcot-Marie-Tooth disease type 4D oboInOwl:hasDbXref OMIM:601455 semapv:UnspecifiedMatching DOID:0110186 Charcot-Marie-Tooth disease type 4D oboInOwl:hasDbXref ORDO:99950 semapv:UnspecifiedMatching -DOID:0110186 Charcot-Marie-Tooth disease type 4D skos:exactMatch OMIM:601455 semapv:UnspecifiedMatching DOID:0110187 Charcot-Marie-Tooth disease type 4K oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching -DOID:0110187 Charcot-Marie-Tooth disease type 4K oboInOwl:hasDbXref OMIM:616684 semapv:UnspecifiedMatching DOID:0110187 Charcot-Marie-Tooth disease type 4K oboInOwl:hasDbXref ORDO:391351 semapv:UnspecifiedMatching -DOID:0110187 Charcot-Marie-Tooth disease type 4K skos:exactMatch OMIM:616684 semapv:UnspecifiedMatching DOID:0110188 Leber congenital amaurosis 14 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110188 Leber congenital amaurosis 14 oboInOwl:hasDbXref MESH:C567636 semapv:UnspecifiedMatching -DOID:0110188 Leber congenital amaurosis 14 oboInOwl:hasDbXref OMIM:613341 semapv:UnspecifiedMatching -DOID:0110188 Leber congenital amaurosis 14 skos:exactMatch OMIM:613341 semapv:UnspecifiedMatching DOID:0110189 Leber congenital amaurosis 15 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110189 Leber congenital amaurosis 15 oboInOwl:hasDbXref OMIM:613843 semapv:UnspecifiedMatching -DOID:0110189 Leber congenital amaurosis 15 skos:exactMatch OMIM:613843 semapv:UnspecifiedMatching DOID:0110190 Charcot-Marie-Tooth disease type 4B2 oboInOwl:hasDbXref GARD:9200 semapv:UnspecifiedMatching DOID:0110190 Charcot-Marie-Tooth disease type 4B2 oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110190 Charcot-Marie-Tooth disease type 4B2 oboInOwl:hasDbXref MESH:C535421 semapv:UnspecifiedMatching -DOID:0110190 Charcot-Marie-Tooth disease type 4B2 oboInOwl:hasDbXref OMIM:604563 semapv:UnspecifiedMatching DOID:0110190 Charcot-Marie-Tooth disease type 4B2 oboInOwl:hasDbXref ORDO:99956 semapv:UnspecifiedMatching -DOID:0110190 Charcot-Marie-Tooth disease type 4B2 skos:exactMatch OMIM:604563 semapv:UnspecifiedMatching DOID:0110191 Charcot-Marie-Tooth disease type 4B1 oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110191 Charcot-Marie-Tooth disease type 4B1 oboInOwl:hasDbXref MESH:C535420 semapv:UnspecifiedMatching -DOID:0110191 Charcot-Marie-Tooth disease type 4B1 oboInOwl:hasDbXref OMIM:601382 semapv:UnspecifiedMatching DOID:0110191 Charcot-Marie-Tooth disease type 4B1 oboInOwl:hasDbXref ORDO:99955 semapv:UnspecifiedMatching -DOID:0110191 Charcot-Marie-Tooth disease type 4B1 skos:exactMatch OMIM:601382 semapv:UnspecifiedMatching DOID:0110192 Charcot-Marie-Tooth disease type 4H oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching -DOID:0110192 Charcot-Marie-Tooth disease type 4H oboInOwl:hasDbXref OMIM:609311 semapv:UnspecifiedMatching DOID:0110192 Charcot-Marie-Tooth disease type 4H oboInOwl:hasDbXref ORDO:99954 semapv:UnspecifiedMatching -DOID:0110192 Charcot-Marie-Tooth disease type 4H skos:exactMatch OMIM:609311 semapv:UnspecifiedMatching DOID:0110193 Charcot-Marie-Tooth disease type 4F oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching -DOID:0110193 Charcot-Marie-Tooth disease type 4F oboInOwl:hasDbXref OMIM:614895 semapv:UnspecifiedMatching DOID:0110193 Charcot-Marie-Tooth disease type 4F oboInOwl:hasDbXref ORDO:99952 semapv:UnspecifiedMatching -DOID:0110193 Charcot-Marie-Tooth disease type 4F skos:exactMatch OMIM:614895 semapv:UnspecifiedMatching DOID:0110194 Charcot-Marie-Tooth disease type 4B3 oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching -DOID:0110194 Charcot-Marie-Tooth disease type 4B3 oboInOwl:hasDbXref OMIM:615284 semapv:UnspecifiedMatching DOID:0110194 Charcot-Marie-Tooth disease type 4B3 oboInOwl:hasDbXref ORDO:363981 semapv:UnspecifiedMatching -DOID:0110194 Charcot-Marie-Tooth disease type 4B3 skos:exactMatch OMIM:615284 semapv:UnspecifiedMatching DOID:0110195 Charcot-Marie-Tooth disease type 4E oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching -DOID:0110195 Charcot-Marie-Tooth disease type 4E oboInOwl:hasDbXref OMIM:605253 semapv:UnspecifiedMatching DOID:0110195 Charcot-Marie-Tooth disease type 4E oboInOwl:hasDbXref ORDO:99951 semapv:UnspecifiedMatching -DOID:0110195 Charcot-Marie-Tooth disease type 4E skos:exactMatch OMIM:605253 semapv:UnspecifiedMatching DOID:0110196 Charcot-Marie-Tooth disease type 4G oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching -DOID:0110196 Charcot-Marie-Tooth disease type 4G oboInOwl:hasDbXref OMIM:605285 semapv:UnspecifiedMatching DOID:0110196 Charcot-Marie-Tooth disease type 4G oboInOwl:hasDbXref ORDO:99953 semapv:UnspecifiedMatching -DOID:0110196 Charcot-Marie-Tooth disease type 4G skos:exactMatch OMIM:605285 semapv:UnspecifiedMatching DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B oboInOwl:hasDbXref MESH:C564703 semapv:UnspecifiedMatching -DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B oboInOwl:hasDbXref OMIM:606482 semapv:UnspecifiedMatching DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B oboInOwl:hasDbXref ORDO:100044 semapv:UnspecifiedMatching -DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B skos:exactMatch OMIM:606482 semapv:UnspecifiedMatching DOID:0110198 Charcot-Marie-Tooth disease recessive intermediate C oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching -DOID:0110198 Charcot-Marie-Tooth disease recessive intermediate C oboInOwl:hasDbXref OMIM:615376 semapv:UnspecifiedMatching DOID:0110198 Charcot-Marie-Tooth disease recessive intermediate C oboInOwl:hasDbXref ORDO:369867 semapv:UnspecifiedMatching -DOID:0110198 Charcot-Marie-Tooth disease recessive intermediate C skos:exactMatch OMIM:615376 semapv:UnspecifiedMatching DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C oboInOwl:hasDbXref MESH:C564257 semapv:UnspecifiedMatching -DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C oboInOwl:hasDbXref OMIM:608323 semapv:UnspecifiedMatching DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C oboInOwl:hasDbXref ORDO:100045 semapv:UnspecifiedMatching -DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C skos:exactMatch OMIM:608323 semapv:UnspecifiedMatching DOID:0110200 Charcot-Marie-Tooth disease dominant intermediate D oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110200 Charcot-Marie-Tooth disease dominant intermediate D oboInOwl:hasDbXref MESH:C564333 semapv:UnspecifiedMatching -DOID:0110200 Charcot-Marie-Tooth disease dominant intermediate D oboInOwl:hasDbXref OMIM:607791 semapv:UnspecifiedMatching DOID:0110200 Charcot-Marie-Tooth disease dominant intermediate D oboInOwl:hasDbXref ORDO:100046 semapv:UnspecifiedMatching -DOID:0110200 Charcot-Marie-Tooth disease dominant intermediate D skos:exactMatch OMIM:607791 semapv:UnspecifiedMatching DOID:0110201 Charcot-Marie-Tooth disease recessive intermediate A oboInOwl:hasDbXref MESH:C564256 semapv:UnspecifiedMatching -DOID:0110201 Charcot-Marie-Tooth disease recessive intermediate A oboInOwl:hasDbXref OMIM:608340 semapv:UnspecifiedMatching DOID:0110201 Charcot-Marie-Tooth disease recessive intermediate A oboInOwl:hasDbXref ORDO:217055 semapv:UnspecifiedMatching -DOID:0110201 Charcot-Marie-Tooth disease recessive intermediate A skos:exactMatch OMIM:608340 semapv:UnspecifiedMatching DOID:0110202 Charcot-Marie-Tooth disease dominant intermediate A oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110202 Charcot-Marie-Tooth disease dominant intermediate A oboInOwl:hasDbXref MESH:C564702 semapv:UnspecifiedMatching -DOID:0110202 Charcot-Marie-Tooth disease dominant intermediate A oboInOwl:hasDbXref OMIM:606483 semapv:UnspecifiedMatching DOID:0110202 Charcot-Marie-Tooth disease dominant intermediate A oboInOwl:hasDbXref ORDO:100043 semapv:UnspecifiedMatching -DOID:0110202 Charcot-Marie-Tooth disease dominant intermediate A skos:exactMatch OMIM:606483 semapv:UnspecifiedMatching DOID:0110203 Charcot-Marie-Tooth disease recessive intermediate D oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching -DOID:0110203 Charcot-Marie-Tooth disease recessive intermediate D oboInOwl:hasDbXref OMIM:616039 semapv:UnspecifiedMatching DOID:0110203 Charcot-Marie-Tooth disease recessive intermediate D oboInOwl:hasDbXref ORDO:435998 semapv:UnspecifiedMatching -DOID:0110203 Charcot-Marie-Tooth disease recessive intermediate D skos:exactMatch OMIM:616039 semapv:UnspecifiedMatching DOID:0110204 Charcot-Marie-Tooth disease recessive intermediate B oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching -DOID:0110204 Charcot-Marie-Tooth disease recessive intermediate B oboInOwl:hasDbXref OMIM:613641 semapv:UnspecifiedMatching DOID:0110204 Charcot-Marie-Tooth disease recessive intermediate B oboInOwl:hasDbXref ORDO:254334 semapv:UnspecifiedMatching -DOID:0110204 Charcot-Marie-Tooth disease recessive intermediate B skos:exactMatch OMIM:613641 semapv:UnspecifiedMatching DOID:0110205 Charcot-Marie-Tooth disease dominant intermediate E oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching -DOID:0110205 Charcot-Marie-Tooth disease dominant intermediate E oboInOwl:hasDbXref OMIM:614455 semapv:UnspecifiedMatching DOID:0110205 Charcot-Marie-Tooth disease dominant intermediate E oboInOwl:hasDbXref ORDO:93114 semapv:UnspecifiedMatching -DOID:0110205 Charcot-Marie-Tooth disease dominant intermediate E skos:exactMatch OMIM:614455 semapv:UnspecifiedMatching DOID:0110206 Charcot-Marie-Tooth disease dominant intermediate F oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching -DOID:0110206 Charcot-Marie-Tooth disease dominant intermediate F oboInOwl:hasDbXref OMIM:615185 semapv:UnspecifiedMatching DOID:0110206 Charcot-Marie-Tooth disease dominant intermediate F oboInOwl:hasDbXref ORDO:352670 semapv:UnspecifiedMatching -DOID:0110206 Charcot-Marie-Tooth disease dominant intermediate F skos:exactMatch OMIM:615185 semapv:UnspecifiedMatching DOID:0110207 Charcot-Marie-Tooth disease X-linked dominant 6 oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching -DOID:0110207 Charcot-Marie-Tooth disease X-linked dominant 6 oboInOwl:hasDbXref OMIM:300905 semapv:UnspecifiedMatching DOID:0110207 Charcot-Marie-Tooth disease X-linked dominant 6 oboInOwl:hasDbXref ORDO:352675 semapv:UnspecifiedMatching -DOID:0110207 Charcot-Marie-Tooth disease X-linked dominant 6 skos:exactMatch OMIM:300905 semapv:UnspecifiedMatching DOID:0110208 Charcot-Marie-Tooth disease X-linked recessive 2 oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110208 Charcot-Marie-Tooth disease X-linked recessive 2 oboInOwl:hasDbXref MESH:C535302 semapv:UnspecifiedMatching -DOID:0110208 Charcot-Marie-Tooth disease X-linked recessive 2 oboInOwl:hasDbXref OMIM:302801 semapv:UnspecifiedMatching DOID:0110208 Charcot-Marie-Tooth disease X-linked recessive 2 oboInOwl:hasDbXref ORDO:101076 semapv:UnspecifiedMatching -DOID:0110208 Charcot-Marie-Tooth disease X-linked recessive 2 skos:exactMatch OMIM:302801 semapv:UnspecifiedMatching DOID:0110209 Charcot-Marie-Tooth disease X-linked dominant 1 oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching -DOID:0110209 Charcot-Marie-Tooth disease X-linked dominant 1 oboInOwl:hasDbXref OMIM:302800 semapv:UnspecifiedMatching DOID:0110209 Charcot-Marie-Tooth disease X-linked dominant 1 oboInOwl:hasDbXref ORDO:101075 semapv:UnspecifiedMatching -DOID:0110209 Charcot-Marie-Tooth disease X-linked dominant 1 skos:exactMatch OMIM:302800 semapv:UnspecifiedMatching DOID:0110210 Charcot-Marie-Tooth disease X-linked recessive 5 oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching -DOID:0110210 Charcot-Marie-Tooth disease X-linked recessive 5 oboInOwl:hasDbXref OMIM:311070 semapv:UnspecifiedMatching DOID:0110210 Charcot-Marie-Tooth disease X-linked recessive 5 oboInOwl:hasDbXref ORDO:99014 semapv:UnspecifiedMatching -DOID:0110210 Charcot-Marie-Tooth disease X-linked recessive 5 skos:exactMatch OMIM:311070 semapv:UnspecifiedMatching DOID:0110211 Charcot-Marie-Tooth disease X-linked recessive 3 oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110211 Charcot-Marie-Tooth disease X-linked recessive 3 oboInOwl:hasDbXref MESH:C535303 semapv:UnspecifiedMatching -DOID:0110211 Charcot-Marie-Tooth disease X-linked recessive 3 oboInOwl:hasDbXref OMIM:302802 semapv:UnspecifiedMatching DOID:0110211 Charcot-Marie-Tooth disease X-linked recessive 3 oboInOwl:hasDbXref ORDO:101077 semapv:UnspecifiedMatching -DOID:0110211 Charcot-Marie-Tooth disease X-linked recessive 3 skos:exactMatch OMIM:302802 semapv:UnspecifiedMatching DOID:0110212 Charcot-Marie-Tooth disease X-linked recessive 4 oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching -DOID:0110212 Charcot-Marie-Tooth disease X-linked recessive 4 oboInOwl:hasDbXref OMIM:310490 semapv:UnspecifiedMatching DOID:0110212 Charcot-Marie-Tooth disease X-linked recessive 4 oboInOwl:hasDbXref ORDO:101078 semapv:UnspecifiedMatching -DOID:0110212 Charcot-Marie-Tooth disease X-linked recessive 4 skos:exactMatch OMIM:310490 semapv:UnspecifiedMatching DOID:0110213 isolated cleft palate oboInOwl:hasDbXref ICD10CM:Q35.1 semapv:UnspecifiedMatching DOID:0110213 isolated cleft palate oboInOwl:hasDbXref ICD10CM:Q35.3 semapv:UnspecifiedMatching DOID:0110213 isolated cleft palate oboInOwl:hasDbXref ICD10CM:Q35.5 semapv:UnspecifiedMatching DOID:0110213 isolated cleft palate oboInOwl:hasDbXref ICD10CM:Q35.7 semapv:UnspecifiedMatching DOID:0110213 isolated cleft palate oboInOwl:hasDbXref ICD10CM:Q35.9 semapv:UnspecifiedMatching -DOID:0110213 isolated cleft palate oboInOwl:hasDbXref OMIM:119540 semapv:UnspecifiedMatching DOID:0110213 isolated cleft palate oboInOwl:hasDbXref ORDO:2014 semapv:UnspecifiedMatching -DOID:0110213 isolated cleft palate skos:exactMatch OMIM:119540 semapv:UnspecifiedMatching DOID:0110214 cleft soft palate oboInOwl:hasDbXref ICD10CM:Q35.3 semapv:UnspecifiedMatching DOID:0110214 cleft soft palate oboInOwl:hasDbXref MESH:C562950 semapv:UnspecifiedMatching -DOID:0110214 cleft soft palate oboInOwl:hasDbXref OMIM:119570 semapv:UnspecifiedMatching DOID:0110214 cleft soft palate oboInOwl:hasDbXref ORDO:99772 semapv:UnspecifiedMatching -DOID:0110214 cleft soft palate skos:exactMatch OMIM:119570 semapv:UnspecifiedMatching DOID:0110215 Leber congenital amaurosis 5 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110215 Leber congenital amaurosis 5 oboInOwl:hasDbXref OMIM:604537 semapv:UnspecifiedMatching -DOID:0110215 Leber congenital amaurosis 5 skos:exactMatch OMIM:604537 semapv:UnspecifiedMatching DOID:0110216 Leber congenital amaurosis 11 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110216 Leber congenital amaurosis 11 oboInOwl:hasDbXref MESH:C564140 semapv:UnspecifiedMatching -DOID:0110216 Leber congenital amaurosis 11 oboInOwl:hasDbXref OMIM:613837 semapv:UnspecifiedMatching -DOID:0110216 Leber congenital amaurosis 11 skos:exactMatch OMIM:613837 semapv:UnspecifiedMatching DOID:0110217 Leber congenital amaurosis 17 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110217 Leber congenital amaurosis 17 oboInOwl:hasDbXref OMIM:615360 semapv:UnspecifiedMatching -DOID:0110217 Leber congenital amaurosis 17 skos:exactMatch OMIM:615360 semapv:UnspecifiedMatching DOID:0110218 Brugada syndrome 1 oboInOwl:hasDbXref ICD10CM:I49.8 semapv:UnspecifiedMatching -DOID:0110218 Brugada syndrome 1 oboInOwl:hasDbXref OMIM:601144 semapv:UnspecifiedMatching -DOID:0110218 Brugada syndrome 1 skos:exactMatch OMIM:601144 semapv:UnspecifiedMatching DOID:0110219 Brugada syndrome 2 oboInOwl:hasDbXref ICD10CM:I49.8 semapv:UnspecifiedMatching DOID:0110219 Brugada syndrome 2 oboInOwl:hasDbXref MESH:C567087 semapv:UnspecifiedMatching -DOID:0110219 Brugada syndrome 2 oboInOwl:hasDbXref OMIM:611777 semapv:UnspecifiedMatching -DOID:0110219 Brugada syndrome 2 skos:exactMatch OMIM:611777 semapv:UnspecifiedMatching DOID:0110220 Brugada syndrome 3 oboInOwl:hasDbXref GARD:10361 semapv:UnspecifiedMatching DOID:0110220 Brugada syndrome 3 oboInOwl:hasDbXref ICD10CM:I49.8 semapv:UnspecifiedMatching DOID:0110220 Brugada syndrome 3 oboInOwl:hasDbXref MESH:C567509 semapv:UnspecifiedMatching -DOID:0110220 Brugada syndrome 3 oboInOwl:hasDbXref OMIM:611875 semapv:UnspecifiedMatching -DOID:0110220 Brugada syndrome 3 skos:exactMatch OMIM:611875 semapv:UnspecifiedMatching DOID:0110221 Brugada syndrome 4 oboInOwl:hasDbXref GARD:10362 semapv:UnspecifiedMatching DOID:0110221 Brugada syndrome 4 oboInOwl:hasDbXref ICD10CM:I49.8 semapv:UnspecifiedMatching DOID:0110221 Brugada syndrome 4 oboInOwl:hasDbXref MESH:C567508 semapv:UnspecifiedMatching -DOID:0110221 Brugada syndrome 4 oboInOwl:hasDbXref OMIM:611876 semapv:UnspecifiedMatching -DOID:0110221 Brugada syndrome 4 skos:exactMatch OMIM:611876 semapv:UnspecifiedMatching DOID:0110222 Brugada syndrome 5 oboInOwl:hasDbXref ICD10CM:I49.8 semapv:UnspecifiedMatching DOID:0110222 Brugada syndrome 5 oboInOwl:hasDbXref MESH:C567556 semapv:UnspecifiedMatching -DOID:0110222 Brugada syndrome 5 oboInOwl:hasDbXref OMIM:612838 semapv:UnspecifiedMatching -DOID:0110222 Brugada syndrome 5 skos:exactMatch OMIM:612838 semapv:UnspecifiedMatching DOID:0110223 Brugada syndrome 6 oboInOwl:hasDbXref ICD10CM:I49.8 semapv:UnspecifiedMatching DOID:0110223 Brugada syndrome 6 oboInOwl:hasDbXref MESH:C567735 semapv:UnspecifiedMatching -DOID:0110223 Brugada syndrome 6 oboInOwl:hasDbXref OMIM:613119 semapv:UnspecifiedMatching -DOID:0110223 Brugada syndrome 6 skos:exactMatch OMIM:613119 semapv:UnspecifiedMatching DOID:0110224 Brugada syndrome 7 oboInOwl:hasDbXref ICD10CM:I49.8 semapv:UnspecifiedMatching DOID:0110224 Brugada syndrome 7 oboInOwl:hasDbXref MESH:C567734 semapv:UnspecifiedMatching -DOID:0110224 Brugada syndrome 7 oboInOwl:hasDbXref OMIM:613120 semapv:UnspecifiedMatching -DOID:0110224 Brugada syndrome 7 skos:exactMatch OMIM:613120 semapv:UnspecifiedMatching DOID:0110225 Brugada syndrome 8 oboInOwl:hasDbXref ICD10CM:I49.8 semapv:UnspecifiedMatching DOID:0110225 Brugada syndrome 8 oboInOwl:hasDbXref MESH:C567732 semapv:UnspecifiedMatching -DOID:0110225 Brugada syndrome 8 oboInOwl:hasDbXref OMIM:613123 semapv:UnspecifiedMatching -DOID:0110225 Brugada syndrome 8 skos:exactMatch OMIM:613123 semapv:UnspecifiedMatching DOID:0110226 Brugada syndrome 9 oboInOwl:hasDbXref ICD10CM:I49.8 semapv:UnspecifiedMatching -DOID:0110226 Brugada syndrome 9 oboInOwl:hasDbXref OMIM:616399 semapv:UnspecifiedMatching -DOID:0110226 Brugada syndrome 9 skos:exactMatch OMIM:616399 semapv:UnspecifiedMatching DOID:0110227 cataract 32 multiple types oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching -DOID:0110227 cataract 32 multiple types oboInOwl:hasDbXref OMIM:115650 semapv:UnspecifiedMatching -DOID:0110227 cataract 32 multiple types skos:exactMatch OMIM:115650 semapv:UnspecifiedMatching DOID:0110228 cataract 8 multiple types oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching -DOID:0110228 cataract 8 multiple types oboInOwl:hasDbXref OMIM:115665 semapv:UnspecifiedMatching -DOID:0110228 cataract 8 multiple types skos:exactMatch OMIM:115665 semapv:UnspecifiedMatching DOID:0110229 cataract 6 multiple types oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching -DOID:0110229 cataract 6 multiple types oboInOwl:hasDbXref OMIM:116600 semapv:UnspecifiedMatching -DOID:0110229 cataract 6 multiple types skos:exactMatch OMIM:116600 semapv:UnspecifiedMatching DOID:0110230 cataract 34 multiple types oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching -DOID:0110230 cataract 34 multiple types oboInOwl:hasDbXref OMIM:612968 semapv:UnspecifiedMatching -DOID:0110230 cataract 34 multiple types skos:exactMatch OMIM:612968 semapv:UnspecifiedMatching DOID:0110231 cataract 1 multiple types oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching -DOID:0110231 cataract 1 multiple types oboInOwl:hasDbXref OMIM:116200 semapv:UnspecifiedMatching -DOID:0110231 cataract 1 multiple types skos:exactMatch OMIM:116200 semapv:UnspecifiedMatching DOID:0110232 cataract 29 oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching -DOID:0110232 cataract 29 oboInOwl:hasDbXref OMIM:115800 semapv:UnspecifiedMatching DOID:0110232 cataract 29 oboInOwl:hasDbXref ORDO:98990 semapv:UnspecifiedMatching -DOID:0110232 cataract 29 skos:exactMatch OMIM:115800 semapv:UnspecifiedMatching DOID:0110233 cataract 27 oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching -DOID:0110233 cataract 27 oboInOwl:hasDbXref OMIM:607304 semapv:UnspecifiedMatching -DOID:0110233 cataract 27 skos:exactMatch OMIM:607304 semapv:UnspecifiedMatching DOID:0110234 cataract 4 multiple types oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching -DOID:0110234 cataract 4 multiple types oboInOwl:hasDbXref OMIM:115700 semapv:UnspecifiedMatching -DOID:0110234 cataract 4 multiple types skos:exactMatch OMIM:115700 semapv:UnspecifiedMatching DOID:0110235 cataract 2 multiple types oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching -DOID:0110235 cataract 2 multiple types oboInOwl:hasDbXref OMIM:604307 semapv:UnspecifiedMatching -DOID:0110235 cataract 2 multiple types skos:exactMatch OMIM:604307 semapv:UnspecifiedMatching DOID:0110236 cataract 39 multiple types oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching -DOID:0110236 cataract 39 multiple types oboInOwl:hasDbXref OMIM:615188 semapv:UnspecifiedMatching -DOID:0110236 cataract 39 multiple types skos:exactMatch OMIM:615188 semapv:UnspecifiedMatching DOID:0110237 cataract 42 oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching -DOID:0110237 cataract 42 oboInOwl:hasDbXref OMIM:115900 semapv:UnspecifiedMatching -DOID:0110237 cataract 42 skos:exactMatch OMIM:115900 semapv:UnspecifiedMatching DOID:0110238 cataract 18 oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching -DOID:0110238 cataract 18 oboInOwl:hasDbXref OMIM:610019 semapv:UnspecifiedMatching -DOID:0110238 cataract 18 skos:exactMatch OMIM:610019 semapv:UnspecifiedMatching DOID:0110239 cataract 12 multiple types oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching -DOID:0110239 cataract 12 multiple types oboInOwl:hasDbXref OMIM:611597 semapv:UnspecifiedMatching -DOID:0110239 cataract 12 multiple types skos:exactMatch OMIM:611597 semapv:UnspecifiedMatching DOID:0110240 cataract 20 multiple types oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching -DOID:0110240 cataract 20 multiple types oboInOwl:hasDbXref OMIM:116100 semapv:UnspecifiedMatching -DOID:0110240 cataract 20 multiple types skos:exactMatch OMIM:116100 semapv:UnspecifiedMatching DOID:0110241 cataract 41 oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching -DOID:0110241 cataract 41 oboInOwl:hasDbXref OMIM:116400 semapv:UnspecifiedMatching -DOID:0110241 cataract 41 skos:exactMatch OMIM:116400 semapv:UnspecifiedMatching DOID:0110242 cataract 13 with adult i phenotype oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching -DOID:0110242 cataract 13 with adult i phenotype oboInOwl:hasDbXref OMIM:116700 semapv:UnspecifiedMatching -DOID:0110242 cataract 13 with adult i phenotype skos:exactMatch OMIM:116700 semapv:UnspecifiedMatching DOID:0110243 cataract 46 juvenile-onset oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching -DOID:0110243 cataract 46 juvenile-onset oboInOwl:hasDbXref OMIM:212500 semapv:UnspecifiedMatching -DOID:0110243 cataract 46 juvenile-onset skos:exactMatch OMIM:212500 semapv:UnspecifiedMatching -DOID:0110244 cataract 28 oboInOwl:hasDbXref OMIM:609026 semapv:UnspecifiedMatching -DOID:0110244 cataract 28 skos:exactMatch OMIM:609026 semapv:UnspecifiedMatching DOID:0110245 cataract 38 oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching -DOID:0110245 cataract 38 oboInOwl:hasDbXref OMIM:614691 semapv:UnspecifiedMatching -DOID:0110245 cataract 38 skos:exactMatch OMIM:614691 semapv:UnspecifiedMatching DOID:0110246 cataract 26 multiple types oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching -DOID:0110246 cataract 26 multiple types oboInOwl:hasDbXref OMIM:605749 semapv:UnspecifiedMatching -DOID:0110246 cataract 26 multiple types skos:exactMatch OMIM:605749 semapv:UnspecifiedMatching -DOID:0110247 cataract 36 oboInOwl:hasDbXref OMIM:613887 semapv:UnspecifiedMatching -DOID:0110247 cataract 36 skos:exactMatch OMIM:613887 semapv:UnspecifiedMatching DOID:0110248 cataract 30 oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching -DOID:0110248 cataract 30 oboInOwl:hasDbXref OMIM:116300 semapv:UnspecifiedMatching DOID:0110248 cataract 30 oboInOwl:hasDbXref ORDO:98984 semapv:UnspecifiedMatching -DOID:0110248 cataract 30 skos:exactMatch OMIM:116300 semapv:UnspecifiedMatching DOID:0110249 cataract 11 multiple types oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching -DOID:0110249 cataract 11 multiple types oboInOwl:hasDbXref OMIM:610623 semapv:UnspecifiedMatching -DOID:0110249 cataract 11 multiple types skos:exactMatch OMIM:610623 semapv:UnspecifiedMatching DOID:0110250 cataract 16 multiple types oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching -DOID:0110250 cataract 16 multiple types oboInOwl:hasDbXref OMIM:613763 semapv:UnspecifiedMatching -DOID:0110250 cataract 16 multiple types skos:exactMatch OMIM:613763 semapv:UnspecifiedMatching DOID:0110251 cataract 15 multiple types oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching -DOID:0110251 cataract 15 multiple types oboInOwl:hasDbXref OMIM:615274 semapv:UnspecifiedMatching -DOID:0110251 cataract 15 multiple types skos:exactMatch OMIM:615274 semapv:UnspecifiedMatching DOID:0110252 cataract 37 oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching -DOID:0110252 cataract 37 oboInOwl:hasDbXref OMIM:614422 semapv:UnspecifiedMatching -DOID:0110252 cataract 37 skos:exactMatch OMIM:614422 semapv:UnspecifiedMatching DOID:0110253 cataract 14 multiple types oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching -DOID:0110253 cataract 14 multiple types oboInOwl:hasDbXref OMIM:601885 semapv:UnspecifiedMatching -DOID:0110253 cataract 14 multiple types skos:exactMatch OMIM:601885 semapv:UnspecifiedMatching DOID:0110254 cataract 25 oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching -DOID:0110254 cataract 25 oboInOwl:hasDbXref OMIM:605728 semapv:UnspecifiedMatching DOID:0110254 cataract 25 oboInOwl:hasDbXref ORDO:98985 semapv:UnspecifiedMatching -DOID:0110254 cataract 25 skos:exactMatch OMIM:605728 semapv:UnspecifiedMatching DOID:0110255 cataract 5 multiple types oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching -DOID:0110255 cataract 5 multiple types oboInOwl:hasDbXref OMIM:116800 semapv:UnspecifiedMatching -DOID:0110255 cataract 5 multiple types skos:exactMatch OMIM:116800 semapv:UnspecifiedMatching DOID:0110256 cataract 21 multiple types oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching -DOID:0110256 cataract 21 multiple types oboInOwl:hasDbXref OMIM:610202 semapv:UnspecifiedMatching -DOID:0110256 cataract 21 multiple types skos:exactMatch OMIM:610202 semapv:UnspecifiedMatching DOID:0110257 cataract 24 oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching -DOID:0110257 cataract 24 oboInOwl:hasDbXref OMIM:601202 semapv:UnspecifiedMatching -DOID:0110257 cataract 24 skos:exactMatch OMIM:601202 semapv:UnspecifiedMatching DOID:0110258 cataract 10 multiple types oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching -DOID:0110258 cataract 10 multiple types oboInOwl:hasDbXref OMIM:600881 semapv:UnspecifiedMatching -DOID:0110258 cataract 10 multiple types skos:exactMatch OMIM:600881 semapv:UnspecifiedMatching DOID:0110259 cataract 43 oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching -DOID:0110259 cataract 43 oboInOwl:hasDbXref OMIM:616279 semapv:UnspecifiedMatching -DOID:0110259 cataract 43 skos:exactMatch OMIM:616279 semapv:UnspecifiedMatching DOID:0110260 cataract 7 oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching -DOID:0110260 cataract 7 oboInOwl:hasDbXref OMIM:115660 semapv:UnspecifiedMatching -DOID:0110260 cataract 7 skos:exactMatch OMIM:115660 semapv:UnspecifiedMatching DOID:0110261 cataract 35 oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching -DOID:0110261 cataract 35 oboInOwl:hasDbXref OMIM:609376 semapv:UnspecifiedMatching -DOID:0110261 cataract 35 skos:exactMatch OMIM:609376 semapv:UnspecifiedMatching DOID:0110262 cataract 45 oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching -DOID:0110262 cataract 45 oboInOwl:hasDbXref OMIM:616851 semapv:UnspecifiedMatching -DOID:0110262 cataract 45 skos:exactMatch OMIM:616851 semapv:UnspecifiedMatching DOID:0110263 cataract 19 multiple types oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching -DOID:0110263 cataract 19 multiple types oboInOwl:hasDbXref OMIM:615277 semapv:UnspecifiedMatching -DOID:0110263 cataract 19 multiple types skos:exactMatch OMIM:615277 semapv:UnspecifiedMatching DOID:0110264 cataract 33 oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching -DOID:0110264 cataract 33 oboInOwl:hasDbXref OMIM:611391 semapv:UnspecifiedMatching -DOID:0110264 cataract 33 skos:exactMatch OMIM:611391 semapv:UnspecifiedMatching DOID:0110265 cataract 31 multiple types oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching -DOID:0110265 cataract 31 multiple types oboInOwl:hasDbXref OMIM:605387 semapv:UnspecifiedMatching -DOID:0110265 cataract 31 multiple types skos:exactMatch OMIM:605387 semapv:UnspecifiedMatching DOID:0110266 cataract 9 multiple types oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching -DOID:0110266 cataract 9 multiple types oboInOwl:hasDbXref OMIM:604219 semapv:UnspecifiedMatching -DOID:0110266 cataract 9 multiple types skos:exactMatch OMIM:604219 semapv:UnspecifiedMatching DOID:0110267 cataract 44 oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching -DOID:0110267 cataract 44 oboInOwl:hasDbXref OMIM:616509 semapv:UnspecifiedMatching DOID:0110267 cataract 44 oboInOwl:hasDbXref ORDO:98994 semapv:UnspecifiedMatching -DOID:0110267 cataract 44 skos:exactMatch OMIM:616509 semapv:UnspecifiedMatching DOID:0110268 cataract 22 multiple types oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching -DOID:0110268 cataract 22 multiple types oboInOwl:hasDbXref OMIM:609741 semapv:UnspecifiedMatching -DOID:0110268 cataract 22 multiple types skos:exactMatch OMIM:609741 semapv:UnspecifiedMatching DOID:0110269 cataract 3 multiple types oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching -DOID:0110269 cataract 3 multiple types oboInOwl:hasDbXref OMIM:601547 semapv:UnspecifiedMatching -DOID:0110269 cataract 3 multiple types skos:exactMatch OMIM:601547 semapv:UnspecifiedMatching DOID:0110270 cataract 17 multiple types oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching -DOID:0110270 cataract 17 multiple types oboInOwl:hasDbXref OMIM:611544 semapv:UnspecifiedMatching -DOID:0110270 cataract 17 multiple types skos:exactMatch OMIM:611544 semapv:UnspecifiedMatching DOID:0110271 cataract 23 oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching -DOID:0110271 cataract 23 oboInOwl:hasDbXref OMIM:610425 semapv:UnspecifiedMatching -DOID:0110271 cataract 23 skos:exactMatch OMIM:610425 semapv:UnspecifiedMatching DOID:0110272 cataract 40 oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching -DOID:0110272 cataract 40 oboInOwl:hasDbXref OMIM:302200 semapv:UnspecifiedMatching -DOID:0110272 cataract 40 skos:exactMatch OMIM:302200 semapv:UnspecifiedMatching DOID:0110273 autosomal dominant limb-girdle muscular dystrophy oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching -DOID:0110273 autosomal dominant limb-girdle muscular dystrophy oboInOwl:hasDbXref OMIMPS:603511 semapv:UnspecifiedMatching DOID:0110273 autosomal dominant limb-girdle muscular dystrophy oboInOwl:hasDbXref ORDO:102014 semapv:UnspecifiedMatching -DOID:0110273 autosomal dominant limb-girdle muscular dystrophy skos:exactMatch OMIMPS:603511 semapv:UnspecifiedMatching DOID:0110274 autosomal recessive limb-girdle muscular dystrophy oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching -DOID:0110274 autosomal recessive limb-girdle muscular dystrophy oboInOwl:hasDbXref OMIMPS:253600 semapv:UnspecifiedMatching DOID:0110274 autosomal recessive limb-girdle muscular dystrophy oboInOwl:hasDbXref ORDO:102015 semapv:UnspecifiedMatching -DOID:0110274 autosomal recessive limb-girdle muscular dystrophy skos:exactMatch OMIMPS:253600 semapv:UnspecifiedMatching DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A oboInOwl:hasDbXref GARD:3845 semapv:UnspecifiedMatching DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching -DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A oboInOwl:hasDbXref OMIM:253600 semapv:UnspecifiedMatching DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A oboInOwl:hasDbXref ORDO:267 semapv:UnspecifiedMatching -DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A skos:exactMatch OMIM:253600 semapv:UnspecifiedMatching DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching -DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B oboInOwl:hasDbXref OMIM:253601 semapv:UnspecifiedMatching DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B oboInOwl:hasDbXref ORDO:268 semapv:UnspecifiedMatching -DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B skos:exactMatch OMIM:253601 semapv:UnspecifiedMatching DOID:0110277 autosomal recessive limb-girdle muscular dystrophy type 2C oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching -DOID:0110277 autosomal recessive limb-girdle muscular dystrophy type 2C oboInOwl:hasDbXref OMIM:253700 semapv:UnspecifiedMatching DOID:0110277 autosomal recessive limb-girdle muscular dystrophy type 2C oboInOwl:hasDbXref ORDO:353 semapv:UnspecifiedMatching -DOID:0110277 autosomal recessive limb-girdle muscular dystrophy type 2C skos:exactMatch OMIM:253700 semapv:UnspecifiedMatching DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching -DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D oboInOwl:hasDbXref OMIM:608099 semapv:UnspecifiedMatching DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D oboInOwl:hasDbXref ORDO:62 semapv:UnspecifiedMatching -DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D skos:exactMatch OMIM:608099 semapv:UnspecifiedMatching DOID:0110279 autosomal recessive limb-girdle muscular dystrophy type 2E oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching -DOID:0110279 autosomal recessive limb-girdle muscular dystrophy type 2E oboInOwl:hasDbXref OMIM:604286 semapv:UnspecifiedMatching DOID:0110279 autosomal recessive limb-girdle muscular dystrophy type 2E oboInOwl:hasDbXref ORDO:119 semapv:UnspecifiedMatching -DOID:0110279 autosomal recessive limb-girdle muscular dystrophy type 2E skos:exactMatch OMIM:604286 semapv:UnspecifiedMatching DOID:0110280 autosomal recessive limb-girdle muscular dystrophy type 2F oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching -DOID:0110280 autosomal recessive limb-girdle muscular dystrophy type 2F oboInOwl:hasDbXref OMIM:601287 semapv:UnspecifiedMatching DOID:0110280 autosomal recessive limb-girdle muscular dystrophy type 2F oboInOwl:hasDbXref ORDO:219 semapv:UnspecifiedMatching -DOID:0110280 autosomal recessive limb-girdle muscular dystrophy type 2F skos:exactMatch OMIM:601287 semapv:UnspecifiedMatching DOID:0110281 autosomal recessive limb-girdle muscular dystrophy type 2G oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching -DOID:0110281 autosomal recessive limb-girdle muscular dystrophy type 2G oboInOwl:hasDbXref OMIM:601954 semapv:UnspecifiedMatching DOID:0110281 autosomal recessive limb-girdle muscular dystrophy type 2G oboInOwl:hasDbXref ORDO:34514 semapv:UnspecifiedMatching -DOID:0110281 autosomal recessive limb-girdle muscular dystrophy type 2G skos:exactMatch OMIM:601954 semapv:UnspecifiedMatching DOID:0110282 autosomal recessive limb-girdle muscular dystrophy type 2H oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching -DOID:0110282 autosomal recessive limb-girdle muscular dystrophy type 2H oboInOwl:hasDbXref OMIM:254110 semapv:UnspecifiedMatching DOID:0110282 autosomal recessive limb-girdle muscular dystrophy type 2H oboInOwl:hasDbXref ORDO:1878 semapv:UnspecifiedMatching -DOID:0110282 autosomal recessive limb-girdle muscular dystrophy type 2H skos:exactMatch OMIM:254110 semapv:UnspecifiedMatching DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching -DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J oboInOwl:hasDbXref OMIM:608807 semapv:UnspecifiedMatching DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J oboInOwl:hasDbXref ORDO:140922 semapv:UnspecifiedMatching -DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J skos:exactMatch OMIM:608807 semapv:UnspecifiedMatching DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2L oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching -DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2L oboInOwl:hasDbXref OMIM:611307 semapv:UnspecifiedMatching DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2L oboInOwl:hasDbXref ORDO:206549 semapv:UnspecifiedMatching -DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2L skos:exactMatch OMIM:611307 semapv:UnspecifiedMatching DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching -DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q oboInOwl:hasDbXref OMIM:613723 semapv:UnspecifiedMatching DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q oboInOwl:hasDbXref ORDO:254361 semapv:UnspecifiedMatching -DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q skos:exactMatch OMIM:613723 semapv:UnspecifiedMatching DOID:0110287 autosomal recessive limb-girdle muscular dystrophy type 2S oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching -DOID:0110287 autosomal recessive limb-girdle muscular dystrophy type 2S oboInOwl:hasDbXref OMIM:615356 semapv:UnspecifiedMatching DOID:0110287 autosomal recessive limb-girdle muscular dystrophy type 2S oboInOwl:hasDbXref ORDO:369840 semapv:UnspecifiedMatching -DOID:0110287 autosomal recessive limb-girdle muscular dystrophy type 2S skos:exactMatch OMIM:615356 semapv:UnspecifiedMatching -DOID:0110288 autosomal recessive limb-girdle muscular dystrophy type 2W oboInOwl:hasDbXref OMIM:616827 semapv:UnspecifiedMatching DOID:0110288 autosomal recessive limb-girdle muscular dystrophy type 2W oboInOwl:hasDbXref ORDO:466801 semapv:UnspecifiedMatching -DOID:0110288 autosomal recessive limb-girdle muscular dystrophy type 2W skos:exactMatch OMIM:616827 semapv:UnspecifiedMatching DOID:0110289 autosomal recessive limb-girdle muscular dystrophy type 2Y oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching -DOID:0110289 autosomal recessive limb-girdle muscular dystrophy type 2Y oboInOwl:hasDbXref OMIM:617072 semapv:UnspecifiedMatching DOID:0110289 autosomal recessive limb-girdle muscular dystrophy type 2Y oboInOwl:hasDbXref ORDO:424261 semapv:UnspecifiedMatching -DOID:0110289 autosomal recessive limb-girdle muscular dystrophy type 2Y skos:exactMatch OMIM:617072 semapv:UnspecifiedMatching -DOID:0110290 autosomal recessive limb-girdle muscular dystrophy type 2X oboInOwl:hasDbXref OMIM:616812 semapv:UnspecifiedMatching DOID:0110290 autosomal recessive limb-girdle muscular dystrophy type 2X oboInOwl:hasDbXref ORDO:476084 semapv:UnspecifiedMatching -DOID:0110290 autosomal recessive limb-girdle muscular dystrophy type 2X skos:exactMatch OMIM:616812 semapv:UnspecifiedMatching DOID:0110291 Leber congenital amaurosis 10 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110291 Leber congenital amaurosis 10 oboInOwl:hasDbXref MESH:C565720 semapv:UnspecifiedMatching -DOID:0110291 Leber congenital amaurosis 10 oboInOwl:hasDbXref OMIM:611755 semapv:UnspecifiedMatching -DOID:0110291 Leber congenital amaurosis 10 skos:exactMatch OMIM:611755 semapv:UnspecifiedMatching DOID:0110292 autosomal recessive limb-girdle muscular dystrophy type 2O oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching -DOID:0110292 autosomal recessive limb-girdle muscular dystrophy type 2O oboInOwl:hasDbXref OMIM:613157 semapv:UnspecifiedMatching DOID:0110292 autosomal recessive limb-girdle muscular dystrophy type 2O oboInOwl:hasDbXref ORDO:206564 semapv:UnspecifiedMatching -DOID:0110292 autosomal recessive limb-girdle muscular dystrophy type 2O skos:exactMatch OMIM:613157 semapv:UnspecifiedMatching DOID:0110293 autosomal recessive limb-girdle muscular dystrophy type 2P oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching -DOID:0110293 autosomal recessive limb-girdle muscular dystrophy type 2P oboInOwl:hasDbXref OMIM:613818 semapv:UnspecifiedMatching DOID:0110293 autosomal recessive limb-girdle muscular dystrophy type 2P oboInOwl:hasDbXref ORDO:280333 semapv:UnspecifiedMatching -DOID:0110293 autosomal recessive limb-girdle muscular dystrophy type 2P skos:exactMatch OMIM:613818 semapv:UnspecifiedMatching DOID:0110294 autosomal recessive limb-girdle muscular dystrophy type 2T oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching -DOID:0110294 autosomal recessive limb-girdle muscular dystrophy type 2T oboInOwl:hasDbXref OMIM:615352 semapv:UnspecifiedMatching DOID:0110294 autosomal recessive limb-girdle muscular dystrophy type 2T oboInOwl:hasDbXref ORDO:363623 semapv:UnspecifiedMatching -DOID:0110294 autosomal recessive limb-girdle muscular dystrophy type 2T skos:exactMatch OMIM:615352 semapv:UnspecifiedMatching DOID:0110295 autosomal recessive limb-girdle muscular dystrophy type 2U oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching -DOID:0110295 autosomal recessive limb-girdle muscular dystrophy type 2U oboInOwl:hasDbXref OMIM:616052 semapv:UnspecifiedMatching DOID:0110295 autosomal recessive limb-girdle muscular dystrophy type 2U oboInOwl:hasDbXref ORDO:352479 semapv:UnspecifiedMatching -DOID:0110295 autosomal recessive limb-girdle muscular dystrophy type 2U skos:exactMatch OMIM:616052 semapv:UnspecifiedMatching DOID:0110296 autosomal recessive limb-girdle muscular dystrophy type 2M oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching -DOID:0110296 autosomal recessive limb-girdle muscular dystrophy type 2M oboInOwl:hasDbXref OMIM:611588 semapv:UnspecifiedMatching DOID:0110296 autosomal recessive limb-girdle muscular dystrophy type 2M oboInOwl:hasDbXref ORDO:206554 semapv:UnspecifiedMatching -DOID:0110296 autosomal recessive limb-girdle muscular dystrophy type 2M skos:exactMatch OMIM:611588 semapv:UnspecifiedMatching DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching -DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K oboInOwl:hasDbXref OMIM:609308 semapv:UnspecifiedMatching DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K oboInOwl:hasDbXref ORDO:86812 semapv:UnspecifiedMatching -DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K skos:exactMatch OMIM:609308 semapv:UnspecifiedMatching DOID:0110298 autosomal recessive limb-girdle muscular dystrophy type 2N oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching -DOID:0110298 autosomal recessive limb-girdle muscular dystrophy type 2N oboInOwl:hasDbXref OMIM:613158 semapv:UnspecifiedMatching DOID:0110298 autosomal recessive limb-girdle muscular dystrophy type 2N oboInOwl:hasDbXref ORDO:206559 semapv:UnspecifiedMatching -DOID:0110298 autosomal recessive limb-girdle muscular dystrophy type 2N skos:exactMatch OMIM:613158 semapv:UnspecifiedMatching DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching -DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I oboInOwl:hasDbXref OMIM:607155 semapv:UnspecifiedMatching DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I oboInOwl:hasDbXref ORDO:34515 semapv:UnspecifiedMatching -DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I skos:exactMatch OMIM:607155 semapv:UnspecifiedMatching DOID:0110303 autosomal dominant limb-girdle muscular dystrophy type 1H oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching -DOID:0110303 autosomal dominant limb-girdle muscular dystrophy type 1H oboInOwl:hasDbXref OMIM:613530 semapv:UnspecifiedMatching DOID:0110303 autosomal dominant limb-girdle muscular dystrophy type 1H oboInOwl:hasDbXref ORDO:238755 semapv:UnspecifiedMatching -DOID:0110303 autosomal dominant limb-girdle muscular dystrophy type 1H skos:exactMatch OMIM:613530 semapv:UnspecifiedMatching DOID:0110304 autosomal dominant limb-girdle muscular dystrophy type 2 oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching -DOID:0110304 autosomal dominant limb-girdle muscular dystrophy type 2 oboInOwl:hasDbXref OMIM:608423 semapv:UnspecifiedMatching DOID:0110304 autosomal dominant limb-girdle muscular dystrophy type 2 oboInOwl:hasDbXref ORDO:55595 semapv:UnspecifiedMatching -DOID:0110304 autosomal dominant limb-girdle muscular dystrophy type 2 skos:exactMatch OMIM:608423 semapv:UnspecifiedMatching DOID:0110305 autosomal dominant limb-girdle muscular dystrophy type 1 oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching -DOID:0110305 autosomal dominant limb-girdle muscular dystrophy type 1 oboInOwl:hasDbXref OMIM:603511 semapv:UnspecifiedMatching DOID:0110305 autosomal dominant limb-girdle muscular dystrophy type 1 oboInOwl:hasDbXref ORDO:34517 semapv:UnspecifiedMatching -DOID:0110305 autosomal dominant limb-girdle muscular dystrophy type 1 skos:exactMatch OMIM:603511 semapv:UnspecifiedMatching DOID:0110306 autosomal dominant limb-girdle muscular dystrophy type 3 oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching -DOID:0110306 autosomal dominant limb-girdle muscular dystrophy type 3 oboInOwl:hasDbXref OMIM:609115 semapv:UnspecifiedMatching DOID:0110306 autosomal dominant limb-girdle muscular dystrophy type 3 oboInOwl:hasDbXref ORDO:55596 semapv:UnspecifiedMatching -DOID:0110306 autosomal dominant limb-girdle muscular dystrophy type 3 skos:exactMatch OMIM:609115 semapv:UnspecifiedMatching -DOID:0110307 hypertrophic cardiomyopathy 1 oboInOwl:hasDbXref OMIM:192600 semapv:UnspecifiedMatching -DOID:0110307 hypertrophic cardiomyopathy 1 skos:exactMatch OMIM:192600 semapv:UnspecifiedMatching -DOID:0110308 hypertrophic cardiomyopathy 2 oboInOwl:hasDbXref OMIM:115195 semapv:UnspecifiedMatching -DOID:0110308 hypertrophic cardiomyopathy 2 skos:exactMatch OMIM:115195 semapv:UnspecifiedMatching -DOID:0110309 hypertrophic cardiomyopathy 3 oboInOwl:hasDbXref OMIM:115196 semapv:UnspecifiedMatching -DOID:0110309 hypertrophic cardiomyopathy 3 skos:exactMatch OMIM:115196 semapv:UnspecifiedMatching -DOID:0110310 hypertrophic cardiomyopathy 4 oboInOwl:hasDbXref OMIM:115197 semapv:UnspecifiedMatching -DOID:0110310 hypertrophic cardiomyopathy 4 skos:exactMatch OMIM:115197 semapv:UnspecifiedMatching -DOID:0110311 hypertrophic cardiomyopathy 21 oboInOwl:hasDbXref OMIM:614676 semapv:UnspecifiedMatching -DOID:0110311 hypertrophic cardiomyopathy 21 skos:exactMatch OMIM:614676 semapv:UnspecifiedMatching -DOID:0110312 hypertrophic cardiomyopathy 6 oboInOwl:hasDbXref OMIM:600858 semapv:UnspecifiedMatching -DOID:0110312 hypertrophic cardiomyopathy 6 skos:exactMatch OMIM:600858 semapv:UnspecifiedMatching -DOID:0110313 hypertrophic cardiomyopathy 7 oboInOwl:hasDbXref OMIM:613690 semapv:UnspecifiedMatching -DOID:0110313 hypertrophic cardiomyopathy 7 skos:exactMatch OMIM:613690 semapv:UnspecifiedMatching -DOID:0110314 hypertrophic cardiomyopathy 8 oboInOwl:hasDbXref OMIM:608751 semapv:UnspecifiedMatching -DOID:0110314 hypertrophic cardiomyopathy 8 skos:exactMatch OMIM:608751 semapv:UnspecifiedMatching -DOID:0110315 hypertrophic cardiomyopathy 9 oboInOwl:hasDbXref OMIM:613765 semapv:UnspecifiedMatching -DOID:0110315 hypertrophic cardiomyopathy 9 skos:exactMatch OMIM:613765 semapv:UnspecifiedMatching -DOID:0110316 hypertrophic cardiomyopathy 10 oboInOwl:hasDbXref OMIM:608758 semapv:UnspecifiedMatching -DOID:0110316 hypertrophic cardiomyopathy 10 skos:exactMatch OMIM:608758 semapv:UnspecifiedMatching -DOID:0110317 hypertrophic cardiomyopathy 11 oboInOwl:hasDbXref OMIM:612098 semapv:UnspecifiedMatching -DOID:0110317 hypertrophic cardiomyopathy 11 skos:exactMatch OMIM:612098 semapv:UnspecifiedMatching -DOID:0110318 hypertrophic cardiomyopathy 12 oboInOwl:hasDbXref OMIM:612124 semapv:UnspecifiedMatching -DOID:0110318 hypertrophic cardiomyopathy 12 skos:exactMatch OMIM:612124 semapv:UnspecifiedMatching -DOID:0110319 hypertrophic cardiomyopathy 13 oboInOwl:hasDbXref OMIM:613243 semapv:UnspecifiedMatching -DOID:0110319 hypertrophic cardiomyopathy 13 skos:exactMatch OMIM:613243 semapv:UnspecifiedMatching -DOID:0110320 hypertrophic cardiomyopathy 14 oboInOwl:hasDbXref OMIM:613251 semapv:UnspecifiedMatching -DOID:0110320 hypertrophic cardiomyopathy 14 skos:exactMatch OMIM:613251 semapv:UnspecifiedMatching -DOID:0110321 hypertrophic cardiomyopathy 15 oboInOwl:hasDbXref OMIM:613255 semapv:UnspecifiedMatching -DOID:0110321 hypertrophic cardiomyopathy 15 skos:exactMatch OMIM:613255 semapv:UnspecifiedMatching -DOID:0110322 hypertrophic cardiomyopathy 16 oboInOwl:hasDbXref OMIM:613838 semapv:UnspecifiedMatching -DOID:0110322 hypertrophic cardiomyopathy 16 skos:exactMatch OMIM:613838 semapv:UnspecifiedMatching -DOID:0110323 hypertrophic cardiomyopathy 17 oboInOwl:hasDbXref OMIM:613873 semapv:UnspecifiedMatching -DOID:0110323 hypertrophic cardiomyopathy 17 skos:exactMatch OMIM:613873 semapv:UnspecifiedMatching -DOID:0110324 hypertrophic cardiomyopathy 18 oboInOwl:hasDbXref OMIM:613874 semapv:UnspecifiedMatching -DOID:0110324 hypertrophic cardiomyopathy 18 skos:exactMatch OMIM:613874 semapv:UnspecifiedMatching -DOID:0110326 hypertrophic cardiomyopathy 20 oboInOwl:hasDbXref OMIM:613876 semapv:UnspecifiedMatching -DOID:0110326 hypertrophic cardiomyopathy 20 skos:exactMatch OMIM:613876 semapv:UnspecifiedMatching -DOID:0110327 hypertrophic cardiomyopathy 26 oboInOwl:hasDbXref OMIM:617047 semapv:UnspecifiedMatching -DOID:0110327 hypertrophic cardiomyopathy 26 skos:exactMatch OMIM:617047 semapv:UnspecifiedMatching -DOID:0110328 hypertrophic cardiomyopathy 25 oboInOwl:hasDbXref OMIM:607487 semapv:UnspecifiedMatching -DOID:0110328 hypertrophic cardiomyopathy 25 skos:exactMatch OMIM:607487 semapv:UnspecifiedMatching DOID:0110329 Leber congenital amaurosis 6 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110329 Leber congenital amaurosis 6 oboInOwl:hasDbXref MESH:C565327 semapv:UnspecifiedMatching -DOID:0110329 Leber congenital amaurosis 6 oboInOwl:hasDbXref OMIM:613826 semapv:UnspecifiedMatching -DOID:0110329 Leber congenital amaurosis 6 skos:exactMatch OMIM:613826 semapv:UnspecifiedMatching DOID:0110330 Leber congenital amaurosis 13 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110330 Leber congenital amaurosis 13 oboInOwl:hasDbXref MESH:C567197 semapv:UnspecifiedMatching -DOID:0110330 Leber congenital amaurosis 13 oboInOwl:hasDbXref OMIM:612712 semapv:UnspecifiedMatching -DOID:0110330 Leber congenital amaurosis 13 skos:exactMatch OMIM:612712 semapv:UnspecifiedMatching DOID:0110331 Leber congenital amaurosis 3 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110331 Leber congenital amaurosis 3 oboInOwl:hasDbXref MESH:C565814 semapv:UnspecifiedMatching -DOID:0110331 Leber congenital amaurosis 3 oboInOwl:hasDbXref OMIM:604232 semapv:UnspecifiedMatching -DOID:0110331 Leber congenital amaurosis 3 skos:exactMatch OMIM:604232 semapv:UnspecifiedMatching DOID:0110332 Leber congenital amaurosis 4 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110332 Leber congenital amaurosis 4 oboInOwl:hasDbXref MESH:C565778 semapv:UnspecifiedMatching -DOID:0110332 Leber congenital amaurosis 4 oboInOwl:hasDbXref OMIM:604393 semapv:UnspecifiedMatching -DOID:0110332 Leber congenital amaurosis 4 skos:exactMatch OMIM:604393 semapv:UnspecifiedMatching DOID:0110333 Leber congenital amaurosis 7 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110333 Leber congenital amaurosis 7 oboInOwl:hasDbXref OMIM:613829 semapv:UnspecifiedMatching -DOID:0110333 Leber congenital amaurosis 7 skos:exactMatch OMIM:613829 semapv:UnspecifiedMatching DOID:0110334 osteogenesis imperfecta type 1 oboInOwl:hasDbXref GARD:8694 semapv:UnspecifiedMatching DOID:0110334 osteogenesis imperfecta type 1 oboInOwl:hasDbXref MESH:D010013 semapv:UnspecifiedMatching DOID:0110334 osteogenesis imperfecta type 1 oboInOwl:hasDbXref NCI:C99003 semapv:UnspecifiedMatching -DOID:0110334 osteogenesis imperfecta type 1 oboInOwl:hasDbXref OMIM:166200 semapv:UnspecifiedMatching DOID:0110334 osteogenesis imperfecta type 1 oboInOwl:hasDbXref ORDO:216796 semapv:UnspecifiedMatching DOID:0110334 osteogenesis imperfecta type 1 oboInOwl:hasDbXref UMLS:C0023931 semapv:UnspecifiedMatching -DOID:0110334 osteogenesis imperfecta type 1 skos:exactMatch OMIM:166200 semapv:UnspecifiedMatching DOID:0110335 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures oboInOwl:hasDbXref ICD10CM:Q78.0 semapv:UnspecifiedMatching -DOID:0110335 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures oboInOwl:hasDbXref OMIM:166230 semapv:UnspecifiedMatching -DOID:0110335 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures skos:exactMatch OMIM:166230 semapv:UnspecifiedMatching DOID:0110336 osteogenesis imperfecta type 8 oboInOwl:hasDbXref GARD:10152 semapv:UnspecifiedMatching DOID:0110336 osteogenesis imperfecta type 8 oboInOwl:hasDbXref ICD10CM:Q78.0 semapv:UnspecifiedMatching -DOID:0110336 osteogenesis imperfecta type 8 oboInOwl:hasDbXref OMIM:610915 semapv:UnspecifiedMatching -DOID:0110336 osteogenesis imperfecta type 8 skos:exactMatch OMIM:610915 semapv:UnspecifiedMatching DOID:0110337 osteogenesis imperfecta type 7 oboInOwl:hasDbXref GARD:8701 semapv:UnspecifiedMatching DOID:0110337 osteogenesis imperfecta type 7 oboInOwl:hasDbXref ICD10CM:Q78.0 semapv:UnspecifiedMatching DOID:0110337 osteogenesis imperfecta type 7 oboInOwl:hasDbXref MESH:C565200 semapv:UnspecifiedMatching -DOID:0110337 osteogenesis imperfecta type 7 oboInOwl:hasDbXref OMIM:610682 semapv:UnspecifiedMatching -DOID:0110337 osteogenesis imperfecta type 7 skos:exactMatch OMIM:610682 semapv:UnspecifiedMatching DOID:0110338 osteogenesis imperfecta type 17 oboInOwl:hasDbXref ICD10CM:Q78.0 semapv:UnspecifiedMatching -DOID:0110338 osteogenesis imperfecta type 17 oboInOwl:hasDbXref OMIM:616507 semapv:UnspecifiedMatching -DOID:0110338 osteogenesis imperfecta type 17 skos:exactMatch OMIM:616507 semapv:UnspecifiedMatching DOID:0110339 osteogenesis imperfecta type 3 oboInOwl:hasDbXref GARD:8695 semapv:UnspecifiedMatching DOID:0110339 osteogenesis imperfecta type 3 oboInOwl:hasDbXref ICD10CM:Q78.0 semapv:UnspecifiedMatching -DOID:0110339 osteogenesis imperfecta type 3 oboInOwl:hasDbXref OMIM:259420 semapv:UnspecifiedMatching -DOID:0110339 osteogenesis imperfecta type 3 skos:exactMatch OMIM:259420 semapv:UnspecifiedMatching DOID:0110340 osteogenesis imperfecta type 4 oboInOwl:hasDbXref GARD:8696 semapv:UnspecifiedMatching DOID:0110340 osteogenesis imperfecta type 4 oboInOwl:hasDbXref ICD10CM:Q78.0 semapv:UnspecifiedMatching -DOID:0110340 osteogenesis imperfecta type 4 oboInOwl:hasDbXref OMIM:166220 semapv:UnspecifiedMatching -DOID:0110340 osteogenesis imperfecta type 4 skos:exactMatch OMIM:166220 semapv:UnspecifiedMatching DOID:0110341 osteogenesis imperfecta type 2 oboInOwl:hasDbXref GARD:10142 semapv:UnspecifiedMatching DOID:0110341 osteogenesis imperfecta type 2 oboInOwl:hasDbXref ICD10CM:Q78.0 semapv:UnspecifiedMatching -DOID:0110341 osteogenesis imperfecta type 2 oboInOwl:hasDbXref OMIM:166210 semapv:UnspecifiedMatching -DOID:0110341 osteogenesis imperfecta type 2 skos:exactMatch OMIM:166210 semapv:UnspecifiedMatching DOID:0110342 osteogenesis imperfecta type 13 oboInOwl:hasDbXref ICD10CM:Q78.0 semapv:UnspecifiedMatching -DOID:0110342 osteogenesis imperfecta type 13 oboInOwl:hasDbXref OMIM:614856 semapv:UnspecifiedMatching -DOID:0110342 osteogenesis imperfecta type 13 skos:exactMatch OMIM:614856 semapv:UnspecifiedMatching DOID:0110343 osteogenesis imperfecta type 14 oboInOwl:hasDbXref ICD10CM:Q78.0 semapv:UnspecifiedMatching -DOID:0110343 osteogenesis imperfecta type 14 oboInOwl:hasDbXref OMIM:615066 semapv:UnspecifiedMatching -DOID:0110343 osteogenesis imperfecta type 14 skos:exactMatch OMIM:615066 semapv:UnspecifiedMatching DOID:0110344 osteogenesis imperfecta type 5 oboInOwl:hasDbXref GARD:8699 semapv:UnspecifiedMatching DOID:0110344 osteogenesis imperfecta type 5 oboInOwl:hasDbXref ICD10CM:Q78.0 semapv:UnspecifiedMatching -DOID:0110344 osteogenesis imperfecta type 5 oboInOwl:hasDbXref OMIM:610967 semapv:UnspecifiedMatching -DOID:0110344 osteogenesis imperfecta type 5 skos:exactMatch OMIM:610967 semapv:UnspecifiedMatching DOID:0110345 osteogenesis imperfecta type 16 oboInOwl:hasDbXref ICD10CM:Q78.0 semapv:UnspecifiedMatching -DOID:0110345 osteogenesis imperfecta type 16 oboInOwl:hasDbXref OMIM:616229 semapv:UnspecifiedMatching -DOID:0110345 osteogenesis imperfecta type 16 skos:exactMatch OMIM:616229 semapv:UnspecifiedMatching DOID:0110346 osteogenesis imperfecta type 10 oboInOwl:hasDbXref ICD10CM:Q78.0 semapv:UnspecifiedMatching -DOID:0110346 osteogenesis imperfecta type 10 oboInOwl:hasDbXref OMIM:613848 semapv:UnspecifiedMatching -DOID:0110346 osteogenesis imperfecta type 10 skos:exactMatch OMIM:613848 semapv:UnspecifiedMatching DOID:0110347 osteogenesis imperfecta type 15 oboInOwl:hasDbXref ICD10CM:Q78.0 semapv:UnspecifiedMatching -DOID:0110347 osteogenesis imperfecta type 15 oboInOwl:hasDbXref OMIM:615220 semapv:UnspecifiedMatching -DOID:0110347 osteogenesis imperfecta type 15 skos:exactMatch OMIM:615220 semapv:UnspecifiedMatching DOID:0110348 osteogenesis imperfecta type 12 oboInOwl:hasDbXref ICD10CM:Q78.0 semapv:UnspecifiedMatching -DOID:0110348 osteogenesis imperfecta type 12 oboInOwl:hasDbXref OMIM:613849 semapv:UnspecifiedMatching -DOID:0110348 osteogenesis imperfecta type 12 skos:exactMatch OMIM:613849 semapv:UnspecifiedMatching DOID:0110349 osteogenesis imperfecta type 9 oboInOwl:hasDbXref GARD:10619 semapv:UnspecifiedMatching DOID:0110349 osteogenesis imperfecta type 9 oboInOwl:hasDbXref ICD10CM:Q78.0 semapv:UnspecifiedMatching -DOID:0110349 osteogenesis imperfecta type 9 oboInOwl:hasDbXref OMIM:259440 semapv:UnspecifiedMatching -DOID:0110349 osteogenesis imperfecta type 9 skos:exactMatch OMIM:259440 semapv:UnspecifiedMatching DOID:0110350 osteogenesis imperfecta type 6 oboInOwl:hasDbXref GARD:8700 semapv:UnspecifiedMatching DOID:0110350 osteogenesis imperfecta type 6 oboInOwl:hasDbXref ICD10CM:Q78.0 semapv:UnspecifiedMatching -DOID:0110350 osteogenesis imperfecta type 6 oboInOwl:hasDbXref OMIM:613982 semapv:UnspecifiedMatching -DOID:0110350 osteogenesis imperfecta type 6 skos:exactMatch OMIM:613982 semapv:UnspecifiedMatching DOID:0110351 osteogenesis imperfecta type 11 oboInOwl:hasDbXref ICD10CM:Q78.0 semapv:UnspecifiedMatching -DOID:0110351 osteogenesis imperfecta type 11 oboInOwl:hasDbXref OMIM:610968 semapv:UnspecifiedMatching -DOID:0110351 osteogenesis imperfecta type 11 skos:exactMatch OMIM:610968 semapv:UnspecifiedMatching DOID:0110352 retinitis pigmentosa 59 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110352 retinitis pigmentosa 59 oboInOwl:hasDbXref OMIM:613861 semapv:UnspecifiedMatching -DOID:0110352 retinitis pigmentosa 59 skos:exactMatch OMIM:613861 semapv:UnspecifiedMatching DOID:0110353 retinitis pigmentosa 20 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110353 retinitis pigmentosa 20 oboInOwl:hasDbXref MESH:C566718 semapv:UnspecifiedMatching -DOID:0110353 retinitis pigmentosa 20 oboInOwl:hasDbXref OMIM:613794 semapv:UnspecifiedMatching -DOID:0110353 retinitis pigmentosa 20 skos:exactMatch OMIM:613794 semapv:UnspecifiedMatching DOID:0110354 retinitis pigmentosa 19 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110354 retinitis pigmentosa 19 oboInOwl:hasDbXref MESH:C566637 semapv:UnspecifiedMatching -DOID:0110354 retinitis pigmentosa 19 oboInOwl:hasDbXref OMIM:601718 semapv:UnspecifiedMatching -DOID:0110354 retinitis pigmentosa 19 skos:exactMatch OMIM:601718 semapv:UnspecifiedMatching DOID:0110355 retinitis pigmentosa 32 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110355 retinitis pigmentosa 32 oboInOwl:hasDbXref MESH:C563689 semapv:UnspecifiedMatching -DOID:0110355 retinitis pigmentosa 32 oboInOwl:hasDbXref OMIM:609913 semapv:UnspecifiedMatching -DOID:0110355 retinitis pigmentosa 32 skos:exactMatch OMIM:609913 semapv:UnspecifiedMatching DOID:0110356 retinitis pigmentosa 18 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110356 retinitis pigmentosa 18 oboInOwl:hasDbXref MESH:C563320 semapv:UnspecifiedMatching -DOID:0110356 retinitis pigmentosa 18 oboInOwl:hasDbXref OMIM:601414 semapv:UnspecifiedMatching -DOID:0110356 retinitis pigmentosa 18 skos:exactMatch OMIM:601414 semapv:UnspecifiedMatching DOID:0110357 retinitis pigmentosa 35 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110357 retinitis pigmentosa 35 oboInOwl:hasDbXref MESH:C565206 semapv:UnspecifiedMatching -DOID:0110357 retinitis pigmentosa 35 oboInOwl:hasDbXref OMIM:610282 semapv:UnspecifiedMatching -DOID:0110357 retinitis pigmentosa 35 skos:exactMatch OMIM:610282 semapv:UnspecifiedMatching DOID:0110358 retinitis pigmentosa 12 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110358 retinitis pigmentosa 12 oboInOwl:hasDbXref MESH:C563999 semapv:UnspecifiedMatching -DOID:0110358 retinitis pigmentosa 12 oboInOwl:hasDbXref OMIM:600105 semapv:UnspecifiedMatching -DOID:0110358 retinitis pigmentosa 12 skos:exactMatch OMIM:600105 semapv:UnspecifiedMatching DOID:0110359 retinitis pigmentosa 67 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110359 retinitis pigmentosa 67 oboInOwl:hasDbXref OMIM:615565 semapv:UnspecifiedMatching -DOID:0110359 retinitis pigmentosa 67 skos:exactMatch OMIM:615565 semapv:UnspecifiedMatching DOID:0110360 retinitis pigmentosa 39 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110360 retinitis pigmentosa 39 oboInOwl:hasDbXref OMIM:613809 semapv:UnspecifiedMatching -DOID:0110360 retinitis pigmentosa 39 skos:exactMatch OMIM:613809 semapv:UnspecifiedMatching DOID:0110361 retinitis pigmentosa 75 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110361 retinitis pigmentosa 75 oboInOwl:hasDbXref OMIM:617023 semapv:UnspecifiedMatching -DOID:0110361 retinitis pigmentosa 75 skos:exactMatch OMIM:617023 semapv:UnspecifiedMatching DOID:0110362 retinitis pigmentosa 58 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110362 retinitis pigmentosa 58 oboInOwl:hasDbXref OMIM:613617 semapv:UnspecifiedMatching -DOID:0110362 retinitis pigmentosa 58 skos:exactMatch OMIM:613617 semapv:UnspecifiedMatching DOID:0110363 retinitis pigmentosa 71 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110363 retinitis pigmentosa 71 oboInOwl:hasDbXref OMIM:616394 semapv:UnspecifiedMatching -DOID:0110363 retinitis pigmentosa 71 skos:exactMatch OMIM:616394 semapv:UnspecifiedMatching DOID:0110364 retinitis pigmentosa 54 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110364 retinitis pigmentosa 54 oboInOwl:hasDbXref OMIM:613428 semapv:UnspecifiedMatching -DOID:0110364 retinitis pigmentosa 54 skos:exactMatch OMIM:613428 semapv:UnspecifiedMatching DOID:0110365 retinitis pigmentosa 28 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110365 retinitis pigmentosa 28 oboInOwl:hasDbXref OMIM:606068 semapv:UnspecifiedMatching -DOID:0110365 retinitis pigmentosa 28 skos:exactMatch OMIM:606068 semapv:UnspecifiedMatching DOID:0110366 retinitis pigmentosa 33 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110366 retinitis pigmentosa 33 oboInOwl:hasDbXref MESH:C563676 semapv:UnspecifiedMatching -DOID:0110366 retinitis pigmentosa 33 oboInOwl:hasDbXref OMIM:610359 semapv:UnspecifiedMatching -DOID:0110366 retinitis pigmentosa 33 skos:exactMatch OMIM:610359 semapv:UnspecifiedMatching DOID:0110367 retinitis pigmentosa 38 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110367 retinitis pigmentosa 38 oboInOwl:hasDbXref OMIM:613862 semapv:UnspecifiedMatching -DOID:0110367 retinitis pigmentosa 38 skos:exactMatch OMIM:613862 semapv:UnspecifiedMatching DOID:0110368 retinitis pigmentosa 26 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110368 retinitis pigmentosa 26 oboInOwl:hasDbXref MESH:C564249 semapv:UnspecifiedMatching -DOID:0110368 retinitis pigmentosa 26 oboInOwl:hasDbXref OMIM:608380 semapv:UnspecifiedMatching -DOID:0110368 retinitis pigmentosa 26 skos:exactMatch OMIM:608380 semapv:UnspecifiedMatching DOID:0110369 retinitis pigmentosa 47 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110369 retinitis pigmentosa 47 oboInOwl:hasDbXref OMIM:613758 semapv:UnspecifiedMatching -DOID:0110369 retinitis pigmentosa 47 skos:exactMatch OMIM:613758 semapv:UnspecifiedMatching DOID:0110370 retinitis pigmentosa 55 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110370 retinitis pigmentosa 55 oboInOwl:hasDbXref OMIM:613575 semapv:UnspecifiedMatching -DOID:0110370 retinitis pigmentosa 55 skos:exactMatch OMIM:613575 semapv:UnspecifiedMatching DOID:0110371 retinitis pigmentosa 56 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110371 retinitis pigmentosa 56 oboInOwl:hasDbXref OMIM:613581 semapv:UnspecifiedMatching -DOID:0110371 retinitis pigmentosa 56 skos:exactMatch OMIM:613581 semapv:UnspecifiedMatching DOID:0110372 retinitis pigmentosa 4 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110372 retinitis pigmentosa 4 oboInOwl:hasDbXref MESH:C566706 semapv:UnspecifiedMatching -DOID:0110372 retinitis pigmentosa 4 oboInOwl:hasDbXref OMIM:613731 semapv:UnspecifiedMatching -DOID:0110372 retinitis pigmentosa 4 skos:exactMatch OMIM:613731 semapv:UnspecifiedMatching DOID:0110373 retinitis pigmentosa 61 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110373 retinitis pigmentosa 61 oboInOwl:hasDbXref OMIM:614180 semapv:UnspecifiedMatching -DOID:0110373 retinitis pigmentosa 61 skos:exactMatch OMIM:614180 semapv:UnspecifiedMatching DOID:0110374 retinitis pigmentosa 68 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110374 retinitis pigmentosa 68 oboInOwl:hasDbXref OMIM:615725 semapv:UnspecifiedMatching -DOID:0110374 retinitis pigmentosa 68 skos:exactMatch OMIM:615725 semapv:UnspecifiedMatching DOID:0110375 retinitis pigmentosa 40 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110375 retinitis pigmentosa 40 oboInOwl:hasDbXref OMIM:613801 semapv:UnspecifiedMatching -DOID:0110375 retinitis pigmentosa 40 skos:exactMatch OMIM:613801 semapv:UnspecifiedMatching DOID:0110376 retinitis pigmentosa 41 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110376 retinitis pigmentosa 41 oboInOwl:hasDbXref MESH:C567422 semapv:UnspecifiedMatching -DOID:0110376 retinitis pigmentosa 41 oboInOwl:hasDbXref OMIM:612095 semapv:UnspecifiedMatching -DOID:0110376 retinitis pigmentosa 41 skos:exactMatch OMIM:612095 semapv:UnspecifiedMatching DOID:0110377 retinitis pigmentosa 49 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110377 retinitis pigmentosa 49 oboInOwl:hasDbXref OMIM:613756 semapv:UnspecifiedMatching -DOID:0110377 retinitis pigmentosa 49 skos:exactMatch OMIM:613756 semapv:UnspecifiedMatching DOID:0110378 retinitis pigmentosa 29 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110378 retinitis pigmentosa 29 oboInOwl:hasDbXref MESH:C567403 semapv:UnspecifiedMatching -DOID:0110378 retinitis pigmentosa 29 oboInOwl:hasDbXref OMIM:612165 semapv:UnspecifiedMatching -DOID:0110378 retinitis pigmentosa 29 skos:exactMatch OMIM:612165 semapv:UnspecifiedMatching DOID:0110379 retinitis pigmentosa 43 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110379 retinitis pigmentosa 43 oboInOwl:hasDbXref OMIM:613810 semapv:UnspecifiedMatching -DOID:0110379 retinitis pigmentosa 43 skos:exactMatch OMIM:613810 semapv:UnspecifiedMatching DOID:0110380 retinitis pigmentosa 62 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110380 retinitis pigmentosa 62 oboInOwl:hasDbXref OMIM:614181 semapv:UnspecifiedMatching -DOID:0110380 retinitis pigmentosa 62 skos:exactMatch OMIM:614181 semapv:UnspecifiedMatching DOID:0110381 retinitis pigmentosa 14 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110381 retinitis pigmentosa 14 oboInOwl:hasDbXref MESH:C563992 semapv:UnspecifiedMatching -DOID:0110381 retinitis pigmentosa 14 oboInOwl:hasDbXref OMIM:600132 semapv:UnspecifiedMatching -DOID:0110381 retinitis pigmentosa 14 skos:exactMatch OMIM:600132 semapv:UnspecifiedMatching DOID:0110382 retinitis pigmentosa 48 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110382 retinitis pigmentosa 48 oboInOwl:hasDbXref OMIM:613827 semapv:UnspecifiedMatching -DOID:0110382 retinitis pigmentosa 48 skos:exactMatch OMIM:613827 semapv:UnspecifiedMatching DOID:0110383 retinitis pigmentosa 7 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110383 retinitis pigmentosa 7 oboInOwl:hasDbXref MESH:C564284 semapv:UnspecifiedMatching -DOID:0110383 retinitis pigmentosa 7 oboInOwl:hasDbXref OMIM:608133 semapv:UnspecifiedMatching -DOID:0110383 retinitis pigmentosa 7 skos:exactMatch OMIM:608133 semapv:UnspecifiedMatching DOID:0110384 retinitis pigmentosa 25 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110384 retinitis pigmentosa 25 oboInOwl:hasDbXref MESH:C566425 semapv:UnspecifiedMatching -DOID:0110384 retinitis pigmentosa 25 oboInOwl:hasDbXref OMIM:602772 semapv:UnspecifiedMatching -DOID:0110384 retinitis pigmentosa 25 skos:exactMatch OMIM:602772 semapv:UnspecifiedMatching DOID:0110385 retinitis pigmentosa 63 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110385 retinitis pigmentosa 63 oboInOwl:hasDbXref OMIM:614494 semapv:UnspecifiedMatching -DOID:0110385 retinitis pigmentosa 63 skos:exactMatch OMIM:614494 semapv:UnspecifiedMatching DOID:0110386 retinitis pigmentosa 42 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110386 retinitis pigmentosa 42 oboInOwl:hasDbXref MESH:C567854 semapv:UnspecifiedMatching -DOID:0110386 retinitis pigmentosa 42 oboInOwl:hasDbXref OMIM:612943 semapv:UnspecifiedMatching -DOID:0110386 retinitis pigmentosa 42 skos:exactMatch OMIM:612943 semapv:UnspecifiedMatching DOID:0110387 retinitis pigmentosa 9 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110387 retinitis pigmentosa 9 oboInOwl:hasDbXref MESH:C566716 semapv:UnspecifiedMatching -DOID:0110387 retinitis pigmentosa 9 oboInOwl:hasDbXref OMIM:180104 semapv:UnspecifiedMatching -DOID:0110387 retinitis pigmentosa 9 skos:exactMatch OMIM:180104 semapv:UnspecifiedMatching DOID:0110388 retinitis pigmentosa 10 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110388 retinitis pigmentosa 10 oboInOwl:hasDbXref MESH:C566715 semapv:UnspecifiedMatching -DOID:0110388 retinitis pigmentosa 10 oboInOwl:hasDbXref OMIM:180105 semapv:UnspecifiedMatching -DOID:0110388 retinitis pigmentosa 10 skos:exactMatch OMIM:180105 semapv:UnspecifiedMatching DOID:0110389 retinitis pigmentosa 73 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110389 retinitis pigmentosa 73 oboInOwl:hasDbXref OMIM:616544 semapv:UnspecifiedMatching -DOID:0110389 retinitis pigmentosa 73 skos:exactMatch OMIM:616544 semapv:UnspecifiedMatching DOID:0110390 retinitis pigmentosa 1 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110390 retinitis pigmentosa 1 oboInOwl:hasDbXref MESH:C538365 semapv:UnspecifiedMatching -DOID:0110390 retinitis pigmentosa 1 oboInOwl:hasDbXref OMIM:180100 semapv:UnspecifiedMatching -DOID:0110390 retinitis pigmentosa 1 skos:exactMatch OMIM:180100 semapv:UnspecifiedMatching DOID:0110391 retinitis pigmentosa 31 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110391 retinitis pigmentosa 31 oboInOwl:hasDbXref MESH:C563685 semapv:UnspecifiedMatching -DOID:0110391 retinitis pigmentosa 31 oboInOwl:hasDbXref OMIM:609923 semapv:UnspecifiedMatching -DOID:0110391 retinitis pigmentosa 31 skos:exactMatch OMIM:609923 semapv:UnspecifiedMatching DOID:0110392 retinitis pigmentosa 70 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110392 retinitis pigmentosa 70 oboInOwl:hasDbXref OMIM:615922 semapv:UnspecifiedMatching -DOID:0110392 retinitis pigmentosa 70 skos:exactMatch OMIM:615922 semapv:UnspecifiedMatching DOID:0110393 retinitis pigmentosa 66 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110393 retinitis pigmentosa 66 oboInOwl:hasDbXref OMIM:615233 semapv:UnspecifiedMatching -DOID:0110393 retinitis pigmentosa 66 skos:exactMatch OMIM:615233 semapv:UnspecifiedMatching DOID:0110394 retinitis pigmentosa 44 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110394 retinitis pigmentosa 44 oboInOwl:hasDbXref OMIM:613769 semapv:UnspecifiedMatching -DOID:0110394 retinitis pigmentosa 44 skos:exactMatch OMIM:613769 semapv:UnspecifiedMatching DOID:0110395 retinitis pigmentosa 72 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110395 retinitis pigmentosa 72 oboInOwl:hasDbXref OMIM:616469 semapv:UnspecifiedMatching -DOID:0110395 retinitis pigmentosa 72 skos:exactMatch OMIM:616469 semapv:UnspecifiedMatching DOID:0110396 retinitis pigmentosa 50 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110396 retinitis pigmentosa 50 oboInOwl:hasDbXref OMIM:613194 semapv:UnspecifiedMatching -DOID:0110396 retinitis pigmentosa 50 skos:exactMatch OMIM:613194 semapv:UnspecifiedMatching DOID:0110397 retinitis pigmentosa 27 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110397 retinitis pigmentosa 27 oboInOwl:hasDbXref MESH:C563526 semapv:UnspecifiedMatching -DOID:0110397 retinitis pigmentosa 27 oboInOwl:hasDbXref OMIM:613750 semapv:UnspecifiedMatching -DOID:0110397 retinitis pigmentosa 27 skos:exactMatch OMIM:613750 semapv:UnspecifiedMatching DOID:0110398 retinitis pigmentosa 51 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110398 retinitis pigmentosa 51 oboInOwl:hasDbXref OMIM:613464 semapv:UnspecifiedMatching -DOID:0110398 retinitis pigmentosa 51 skos:exactMatch OMIM:613464 semapv:UnspecifiedMatching DOID:0110399 retinitis pigmentosa 37 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110399 retinitis pigmentosa 37 oboInOwl:hasDbXref MESH:C567005 semapv:UnspecifiedMatching -DOID:0110399 retinitis pigmentosa 37 oboInOwl:hasDbXref OMIM:611131 semapv:UnspecifiedMatching -DOID:0110399 retinitis pigmentosa 37 skos:exactMatch OMIM:611131 semapv:UnspecifiedMatching DOID:0110400 retinitis pigmentosa 22 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110400 retinitis pigmentosa 22 oboInOwl:hasDbXref OMIM:602594 semapv:UnspecifiedMatching -DOID:0110400 retinitis pigmentosa 22 skos:exactMatch OMIM:602594 semapv:UnspecifiedMatching DOID:0110401 retinitis pigmentosa 74 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110401 retinitis pigmentosa 74 oboInOwl:hasDbXref OMIM:616562 semapv:UnspecifiedMatching -DOID:0110401 retinitis pigmentosa 74 skos:exactMatch OMIM:616562 semapv:UnspecifiedMatching DOID:0110402 retinitis pigmentosa 45 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110402 retinitis pigmentosa 45 oboInOwl:hasDbXref OMIM:613767 semapv:UnspecifiedMatching -DOID:0110402 retinitis pigmentosa 45 skos:exactMatch OMIM:613767 semapv:UnspecifiedMatching DOID:0110403 retinitis pigmentosa 13 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110403 retinitis pigmentosa 13 oboInOwl:hasDbXref MESH:C564008 semapv:UnspecifiedMatching -DOID:0110403 retinitis pigmentosa 13 oboInOwl:hasDbXref OMIM:600059 semapv:UnspecifiedMatching -DOID:0110403 retinitis pigmentosa 13 skos:exactMatch OMIM:600059 semapv:UnspecifiedMatching DOID:0110404 retinitis pigmentosa 17 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110404 retinitis pigmentosa 17 oboInOwl:hasDbXref MESH:C563437 semapv:UnspecifiedMatching -DOID:0110404 retinitis pigmentosa 17 oboInOwl:hasDbXref OMIM:600852 semapv:UnspecifiedMatching -DOID:0110404 retinitis pigmentosa 17 skos:exactMatch OMIM:600852 semapv:UnspecifiedMatching DOID:0110405 retinitis pigmentosa 36 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110405 retinitis pigmentosa 36 oboInOwl:hasDbXref MESH:C566431 semapv:UnspecifiedMatching -DOID:0110405 retinitis pigmentosa 36 oboInOwl:hasDbXref OMIM:610599 semapv:UnspecifiedMatching -DOID:0110405 retinitis pigmentosa 36 skos:exactMatch OMIM:610599 semapv:UnspecifiedMatching DOID:0110406 retinitis pigmentosa 30 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110406 retinitis pigmentosa 30 oboInOwl:hasDbXref MESH:C564310 semapv:UnspecifiedMatching -DOID:0110406 retinitis pigmentosa 30 oboInOwl:hasDbXref OMIM:607921 semapv:UnspecifiedMatching -DOID:0110406 retinitis pigmentosa 30 skos:exactMatch OMIM:607921 semapv:UnspecifiedMatching DOID:0110407 retinitis pigmentosa 57 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110407 retinitis pigmentosa 57 oboInOwl:hasDbXref OMIM:613582 semapv:UnspecifiedMatching -DOID:0110407 retinitis pigmentosa 57 skos:exactMatch OMIM:613582 semapv:UnspecifiedMatching DOID:0110408 retinitis pigmentosa 11 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110408 retinitis pigmentosa 11 oboInOwl:hasDbXref MESH:C563991 semapv:UnspecifiedMatching -DOID:0110408 retinitis pigmentosa 11 oboInOwl:hasDbXref OMIM:600138 semapv:UnspecifiedMatching -DOID:0110408 retinitis pigmentosa 11 skos:exactMatch OMIM:600138 semapv:UnspecifiedMatching DOID:0110409 retinitis pigmentosa 46 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110409 retinitis pigmentosa 46 oboInOwl:hasDbXref MESH:C567249 semapv:UnspecifiedMatching -DOID:0110409 retinitis pigmentosa 46 oboInOwl:hasDbXref OMIM:612572 semapv:UnspecifiedMatching -DOID:0110409 retinitis pigmentosa 46 skos:exactMatch OMIM:612572 semapv:UnspecifiedMatching DOID:0110410 retinitis pigmentosa 69 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110410 retinitis pigmentosa 69 oboInOwl:hasDbXref OMIM:615780 semapv:UnspecifiedMatching -DOID:0110410 retinitis pigmentosa 69 skos:exactMatch OMIM:615780 semapv:UnspecifiedMatching DOID:0110411 retinitis pigmentosa 60 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110411 retinitis pigmentosa 60 oboInOwl:hasDbXref OMIM:613983 semapv:UnspecifiedMatching -DOID:0110411 retinitis pigmentosa 60 skos:exactMatch OMIM:613983 semapv:UnspecifiedMatching DOID:0110412 retinitis pigmentosa 23 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110412 retinitis pigmentosa 23 oboInOwl:hasDbXref OMIM:300424 semapv:UnspecifiedMatching -DOID:0110412 retinitis pigmentosa 23 skos:exactMatch OMIM:300424 semapv:UnspecifiedMatching DOID:0110413 retinitis pigmentosa 6 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110413 retinitis pigmentosa 6 oboInOwl:hasDbXref MESH:C564065 semapv:UnspecifiedMatching -DOID:0110413 retinitis pigmentosa 6 oboInOwl:hasDbXref OMIM:312612 semapv:UnspecifiedMatching -DOID:0110413 retinitis pigmentosa 6 skos:exactMatch OMIM:312612 semapv:UnspecifiedMatching DOID:0110414 retinitis pigmentosa 3 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110414 retinitis pigmentosa 3 oboInOwl:hasDbXref MESH:C564520 semapv:UnspecifiedMatching -DOID:0110414 retinitis pigmentosa 3 oboInOwl:hasDbXref OMIM:300029 semapv:UnspecifiedMatching -DOID:0110414 retinitis pigmentosa 3 skos:exactMatch OMIM:300029 semapv:UnspecifiedMatching DOID:0110415 retinitis pigmentosa 2 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110415 retinitis pigmentosa 2 oboInOwl:hasDbXref MESH:C567523 semapv:UnspecifiedMatching -DOID:0110415 retinitis pigmentosa 2 oboInOwl:hasDbXref OMIM:312600 semapv:UnspecifiedMatching -DOID:0110415 retinitis pigmentosa 2 skos:exactMatch OMIM:312600 semapv:UnspecifiedMatching DOID:0110416 retinitis pigmentosa 24 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110416 retinitis pigmentosa 24 oboInOwl:hasDbXref OMIM:300155 semapv:UnspecifiedMatching -DOID:0110416 retinitis pigmentosa 24 skos:exactMatch OMIM:300155 semapv:UnspecifiedMatching DOID:0110417 retinitis pigmentosa 34 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110417 retinitis pigmentosa 34 oboInOwl:hasDbXref MESH:C564475 semapv:UnspecifiedMatching -DOID:0110417 retinitis pigmentosa 34 oboInOwl:hasDbXref OMIM:300605 semapv:UnspecifiedMatching -DOID:0110417 retinitis pigmentosa 34 skos:exactMatch OMIM:300605 semapv:UnspecifiedMatching DOID:0110418 retinitis pigmentosa Y-linked oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110418 retinitis pigmentosa Y-linked oboInOwl:hasDbXref OMIM:400004 semapv:UnspecifiedMatching -DOID:0110418 retinitis pigmentosa Y-linked skos:exactMatch OMIM:400004 semapv:UnspecifiedMatching DOID:0110419 retinitis pigmentosa with or without situs inversus oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110419 retinitis pigmentosa with or without situs inversus oboInOwl:hasDbXref OMIM:615434 semapv:UnspecifiedMatching -DOID:0110419 retinitis pigmentosa with or without situs inversus skos:exactMatch OMIM:615434 semapv:UnspecifiedMatching DOID:0110420 dominant pericentral pigmentary retinopathy oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110420 dominant pericentral pigmentary retinopathy oboInOwl:hasDbXref OMIM:180210 semapv:UnspecifiedMatching -DOID:0110420 dominant pericentral pigmentary retinopathy skos:exactMatch OMIM:180210 semapv:UnspecifiedMatching DOID:0110421 late-adult onset retinitis pigmentosa oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110421 late-adult onset retinitis pigmentosa oboInOwl:hasDbXref OMIM:268025 semapv:UnspecifiedMatching -DOID:0110421 late-adult onset retinitis pigmentosa skos:exactMatch OMIM:268025 semapv:UnspecifiedMatching DOID:0110422 autosomal recessive pericentral pigmentary retinopathy oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110422 autosomal recessive pericentral pigmentary retinopathy oboInOwl:hasDbXref OMIM:268060 semapv:UnspecifiedMatching -DOID:0110422 autosomal recessive pericentral pigmentary retinopathy skos:exactMatch OMIM:268060 semapv:UnspecifiedMatching DOID:0110423 dilated cardiomyopathy 1C oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching -DOID:0110423 dilated cardiomyopathy 1C oboInOwl:hasDbXref OMIM:601493 semapv:UnspecifiedMatching -DOID:0110423 dilated cardiomyopathy 1C skos:exactMatch OMIM:601493 semapv:UnspecifiedMatching DOID:0110424 dilated cardiomyopathy 1CC oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching -DOID:0110424 dilated cardiomyopathy 1CC oboInOwl:hasDbXref OMIM:613122 semapv:UnspecifiedMatching -DOID:0110424 dilated cardiomyopathy 1CC skos:exactMatch OMIM:613122 semapv:UnspecifiedMatching -DOID:0110425 dilated cardiomyopathy 1A oboInOwl:hasDbXref OMIM:115200 semapv:UnspecifiedMatching DOID:0110425 dilated cardiomyopathy 1A oboInOwl:hasDbXref ORDO:300751 semapv:UnspecifiedMatching -DOID:0110425 dilated cardiomyopathy 1A skos:exactMatch OMIM:115200 semapv:UnspecifiedMatching DOID:0110426 dilated cardiomyopathy 1D oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching -DOID:0110426 dilated cardiomyopathy 1D oboInOwl:hasDbXref OMIM:601494 semapv:UnspecifiedMatching -DOID:0110426 dilated cardiomyopathy 1D skos:exactMatch OMIM:601494 semapv:UnspecifiedMatching DOID:0110427 dilated cardiomyopathy 1V oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching -DOID:0110427 dilated cardiomyopathy 1V oboInOwl:hasDbXref OMIM:613697 semapv:UnspecifiedMatching -DOID:0110427 dilated cardiomyopathy 1V skos:exactMatch OMIM:613697 semapv:UnspecifiedMatching DOID:0110428 dilated cardiomyopathy 1AA oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching -DOID:0110428 dilated cardiomyopathy 1AA oboInOwl:hasDbXref OMIM:612158 semapv:UnspecifiedMatching -DOID:0110428 dilated cardiomyopathy 1AA skos:exactMatch OMIM:612158 semapv:UnspecifiedMatching DOID:0110429 dilated cardiomyopathy 1H oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching -DOID:0110429 dilated cardiomyopathy 1H oboInOwl:hasDbXref OMIM:604288 semapv:UnspecifiedMatching -DOID:0110429 dilated cardiomyopathy 1H skos:exactMatch OMIM:604288 semapv:UnspecifiedMatching DOID:0110430 dilated cardiomyopathy 1G oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching -DOID:0110430 dilated cardiomyopathy 1G oboInOwl:hasDbXref OMIM:604145 semapv:UnspecifiedMatching -DOID:0110430 dilated cardiomyopathy 1G skos:exactMatch OMIM:604145 semapv:UnspecifiedMatching DOID:0110431 dilated cardiomyopathy 1I oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching -DOID:0110431 dilated cardiomyopathy 1I oboInOwl:hasDbXref OMIM:604765 semapv:UnspecifiedMatching -DOID:0110431 dilated cardiomyopathy 1I skos:exactMatch OMIM:604765 semapv:UnspecifiedMatching DOID:0110432 dilated cardiomyopathy 1NN oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching -DOID:0110432 dilated cardiomyopathy 1NN oboInOwl:hasDbXref OMIM:615916 semapv:UnspecifiedMatching -DOID:0110432 dilated cardiomyopathy 1NN skos:exactMatch OMIM:615916 semapv:UnspecifiedMatching DOID:0110433 dilated cardiomyopathy 1E oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching -DOID:0110433 dilated cardiomyopathy 1E oboInOwl:hasDbXref OMIM:601154 semapv:UnspecifiedMatching -DOID:0110433 dilated cardiomyopathy 1E skos:exactMatch OMIM:601154 semapv:UnspecifiedMatching DOID:0110434 dilated cardiomyopathy 1Z oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching -DOID:0110434 dilated cardiomyopathy 1Z oboInOwl:hasDbXref OMIM:611879 semapv:UnspecifiedMatching -DOID:0110434 dilated cardiomyopathy 1Z skos:exactMatch OMIM:611879 semapv:UnspecifiedMatching DOID:0110435 dilated cardiomyopathy 1GG oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching -DOID:0110435 dilated cardiomyopathy 1GG oboInOwl:hasDbXref OMIM:613642 semapv:UnspecifiedMatching -DOID:0110435 dilated cardiomyopathy 1GG skos:exactMatch OMIM:613642 semapv:UnspecifiedMatching DOID:0110436 dilated cardiomyopathy 1L oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching -DOID:0110436 dilated cardiomyopathy 1L oboInOwl:hasDbXref OMIM:606685 semapv:UnspecifiedMatching -DOID:0110436 dilated cardiomyopathy 1L skos:exactMatch OMIM:606685 semapv:UnspecifiedMatching DOID:0110437 dilated cardiomyopathy 1K oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching -DOID:0110437 dilated cardiomyopathy 1K oboInOwl:hasDbXref OMIM:605582 semapv:UnspecifiedMatching -DOID:0110437 dilated cardiomyopathy 1K skos:exactMatch OMIM:605582 semapv:UnspecifiedMatching DOID:0110438 dilated cardiomyopathy 1JJ oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching -DOID:0110438 dilated cardiomyopathy 1JJ oboInOwl:hasDbXref OMIM:615235 semapv:UnspecifiedMatching -DOID:0110438 dilated cardiomyopathy 1JJ skos:exactMatch OMIM:615235 semapv:UnspecifiedMatching DOID:0110439 dilated cardiomyopathy 1P oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching -DOID:0110439 dilated cardiomyopathy 1P oboInOwl:hasDbXref OMIM:609909 semapv:UnspecifiedMatching -DOID:0110439 dilated cardiomyopathy 1P skos:exactMatch OMIM:609909 semapv:UnspecifiedMatching -DOID:0110440 dilated cardiomyopathy 1J oboInOwl:hasDbXref OMIM:605362 semapv:UnspecifiedMatching DOID:0110440 dilated cardiomyopathy 1J oboInOwl:hasDbXref ORDO:217622 semapv:UnspecifiedMatching -DOID:0110440 dilated cardiomyopathy 1J skos:exactMatch OMIM:605362 semapv:UnspecifiedMatching DOID:0110441 dilated cardiomyopathy 2B oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching -DOID:0110441 dilated cardiomyopathy 2B oboInOwl:hasDbXref OMIM:614672 semapv:UnspecifiedMatching -DOID:0110441 dilated cardiomyopathy 2B skos:exactMatch OMIM:614672 semapv:UnspecifiedMatching DOID:0110442 dilated cardiomyopathy 1Q oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching -DOID:0110442 dilated cardiomyopathy 1Q oboInOwl:hasDbXref OMIM:609915 semapv:UnspecifiedMatching -DOID:0110442 dilated cardiomyopathy 1Q skos:exactMatch OMIM:609915 semapv:UnspecifiedMatching DOID:0110443 dilated cardiomyopathy 1B oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching -DOID:0110443 dilated cardiomyopathy 1B oboInOwl:hasDbXref OMIM:600884 semapv:UnspecifiedMatching -DOID:0110443 dilated cardiomyopathy 1B skos:exactMatch OMIM:600884 semapv:UnspecifiedMatching DOID:0110444 dilated cardiomyopathy 1X oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching -DOID:0110444 dilated cardiomyopathy 1X oboInOwl:hasDbXref OMIM:611615 semapv:UnspecifiedMatching -DOID:0110444 dilated cardiomyopathy 1X skos:exactMatch OMIM:611615 semapv:UnspecifiedMatching DOID:0110445 dilated cardiomyopathy 1KK oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching -DOID:0110445 dilated cardiomyopathy 1KK oboInOwl:hasDbXref OMIM:615248 semapv:UnspecifiedMatching -DOID:0110445 dilated cardiomyopathy 1KK skos:exactMatch OMIM:615248 semapv:UnspecifiedMatching DOID:0110446 dilated cardiomyopathy 1W oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching -DOID:0110446 dilated cardiomyopathy 1W oboInOwl:hasDbXref OMIM:611407 semapv:UnspecifiedMatching -DOID:0110446 dilated cardiomyopathy 1W skos:exactMatch OMIM:611407 semapv:UnspecifiedMatching DOID:0110447 dilated cardiomyopathy 1DD oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching -DOID:0110447 dilated cardiomyopathy 1DD oboInOwl:hasDbXref OMIM:613172 semapv:UnspecifiedMatching -DOID:0110447 dilated cardiomyopathy 1DD skos:exactMatch OMIM:613172 semapv:UnspecifiedMatching DOID:0110448 dilated cardiomyopathy 1HH oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching -DOID:0110448 dilated cardiomyopathy 1HH oboInOwl:hasDbXref OMIM:613881 semapv:UnspecifiedMatching -DOID:0110448 dilated cardiomyopathy 1HH skos:exactMatch OMIM:613881 semapv:UnspecifiedMatching DOID:0110449 dilated cardiomyopathy 1M oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching -DOID:0110449 dilated cardiomyopathy 1M oboInOwl:hasDbXref OMIM:607482 semapv:UnspecifiedMatching -DOID:0110449 dilated cardiomyopathy 1M skos:exactMatch OMIM:607482 semapv:UnspecifiedMatching DOID:0110450 dilated cardiomyopathy 1II oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching -DOID:0110450 dilated cardiomyopathy 1II oboInOwl:hasDbXref OMIM:615184 semapv:UnspecifiedMatching -DOID:0110450 dilated cardiomyopathy 1II skos:exactMatch OMIM:615184 semapv:UnspecifiedMatching DOID:0110451 dilated cardiomyopathy 1O oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching -DOID:0110451 dilated cardiomyopathy 1O oboInOwl:hasDbXref OMIM:608569 semapv:UnspecifiedMatching -DOID:0110451 dilated cardiomyopathy 1O skos:exactMatch OMIM:608569 semapv:UnspecifiedMatching DOID:0110452 dilated cardiomyopathy 1T oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching DOID:0110453 dilated cardiomyopathy 1EE oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching -DOID:0110453 dilated cardiomyopathy 1EE oboInOwl:hasDbXref OMIM:613252 semapv:UnspecifiedMatching -DOID:0110453 dilated cardiomyopathy 1EE skos:exactMatch OMIM:613252 semapv:UnspecifiedMatching DOID:0110454 dilated cardiomyopathy 1S oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching -DOID:0110454 dilated cardiomyopathy 1S oboInOwl:hasDbXref OMIM:613426 semapv:UnspecifiedMatching -DOID:0110454 dilated cardiomyopathy 1S skos:exactMatch OMIM:613426 semapv:UnspecifiedMatching DOID:0110455 dilated cardiomyopathy 1U oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching -DOID:0110455 dilated cardiomyopathy 1U oboInOwl:hasDbXref OMIM:613694 semapv:UnspecifiedMatching -DOID:0110455 dilated cardiomyopathy 1U skos:exactMatch OMIM:613694 semapv:UnspecifiedMatching DOID:0110456 dilated cardiomyopathy 1R oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching -DOID:0110456 dilated cardiomyopathy 1R oboInOwl:hasDbXref OMIM:613424 semapv:UnspecifiedMatching -DOID:0110456 dilated cardiomyopathy 1R skos:exactMatch OMIM:613424 semapv:UnspecifiedMatching DOID:0110457 dilated cardiomyopathy 1Y oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching -DOID:0110457 dilated cardiomyopathy 1Y oboInOwl:hasDbXref OMIM:611878 semapv:UnspecifiedMatching -DOID:0110457 dilated cardiomyopathy 1Y skos:exactMatch OMIM:611878 semapv:UnspecifiedMatching DOID:0110458 dilated cardiomyopathy 1BB oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching -DOID:0110458 dilated cardiomyopathy 1BB oboInOwl:hasDbXref OMIM:612877 semapv:UnspecifiedMatching -DOID:0110458 dilated cardiomyopathy 1BB skos:exactMatch OMIM:612877 semapv:UnspecifiedMatching DOID:0110459 dilated cardiomyopathy 1FF oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching -DOID:0110459 dilated cardiomyopathy 1FF oboInOwl:hasDbXref OMIM:613286 semapv:UnspecifiedMatching -DOID:0110459 dilated cardiomyopathy 1FF skos:exactMatch OMIM:613286 semapv:UnspecifiedMatching DOID:0110460 dilated cardiomyopathy 2A oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching -DOID:0110460 dilated cardiomyopathy 2A oboInOwl:hasDbXref OMIM:611880 semapv:UnspecifiedMatching -DOID:0110460 dilated cardiomyopathy 2A skos:exactMatch OMIM:611880 semapv:UnspecifiedMatching DOID:0110461 X-linked dilated cardiomyopathy oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching DOID:0110461 X-linked dilated cardiomyopathy oboInOwl:hasDbXref MESH:C580047 semapv:UnspecifiedMatching -DOID:0110461 X-linked dilated cardiomyopathy oboInOwl:hasDbXref OMIM:302045 semapv:UnspecifiedMatching -DOID:0110461 X-linked dilated cardiomyopathy skos:exactMatch OMIM:302045 semapv:UnspecifiedMatching DOID:0110462 autosomal recessive nonsyndromic deafness 101 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110462 autosomal recessive nonsyndromic deafness 101 oboInOwl:hasDbXref OMIM:615837 semapv:UnspecifiedMatching -DOID:0110462 autosomal recessive nonsyndromic deafness 101 skos:exactMatch OMIM:615837 semapv:UnspecifiedMatching DOID:0110463 autosomal recessive nonsyndromic deafness 102 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110463 autosomal recessive nonsyndromic deafness 102 oboInOwl:hasDbXref OMIM:615974 semapv:UnspecifiedMatching -DOID:0110463 autosomal recessive nonsyndromic deafness 102 skos:exactMatch OMIM:615974 semapv:UnspecifiedMatching DOID:0110464 autosomal recessive nonsyndromic deafness 103 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110464 autosomal recessive nonsyndromic deafness 103 oboInOwl:hasDbXref OMIM:616042 semapv:UnspecifiedMatching -DOID:0110464 autosomal recessive nonsyndromic deafness 103 skos:exactMatch OMIM:616042 semapv:UnspecifiedMatching DOID:0110465 autosomal recessive nonsyndromic deafness 104 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110465 autosomal recessive nonsyndromic deafness 104 oboInOwl:hasDbXref OMIM:616515 semapv:UnspecifiedMatching -DOID:0110465 autosomal recessive nonsyndromic deafness 104 skos:exactMatch OMIM:616515 semapv:UnspecifiedMatching DOID:0110467 autosomal recessive nonsyndromic deafness 12 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110467 autosomal recessive nonsyndromic deafness 12 oboInOwl:hasDbXref OMIM:601386 semapv:UnspecifiedMatching -DOID:0110467 autosomal recessive nonsyndromic deafness 12 skos:exactMatch OMIM:601386 semapv:UnspecifiedMatching DOID:0110468 autosomal recessive nonsyndromic deafness 13 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110468 autosomal recessive nonsyndromic deafness 13 oboInOwl:hasDbXref OMIM:603098 semapv:UnspecifiedMatching -DOID:0110468 autosomal recessive nonsyndromic deafness 13 skos:exactMatch OMIM:603098 semapv:UnspecifiedMatching DOID:0110469 autosomal recessive nonsyndromic deafness 14 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110469 autosomal recessive nonsyndromic deafness 14 oboInOwl:hasDbXref OMIM:603678 semapv:UnspecifiedMatching -DOID:0110469 autosomal recessive nonsyndromic deafness 14 skos:exactMatch OMIM:603678 semapv:UnspecifiedMatching DOID:0110470 autosomal recessive nonsyndromic deafness 15 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110470 autosomal recessive nonsyndromic deafness 15 oboInOwl:hasDbXref OMIM:601869 semapv:UnspecifiedMatching -DOID:0110470 autosomal recessive nonsyndromic deafness 15 skos:exactMatch OMIM:601869 semapv:UnspecifiedMatching DOID:0110471 autosomal recessive nonsyndromic deafness 16 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110471 autosomal recessive nonsyndromic deafness 16 oboInOwl:hasDbXref OMIM:603720 semapv:UnspecifiedMatching -DOID:0110471 autosomal recessive nonsyndromic deafness 16 skos:exactMatch OMIM:603720 semapv:UnspecifiedMatching DOID:0110472 autosomal recessive nonsyndromic deafness 17 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110472 autosomal recessive nonsyndromic deafness 17 oboInOwl:hasDbXref OMIM:603010 semapv:UnspecifiedMatching -DOID:0110472 autosomal recessive nonsyndromic deafness 17 skos:exactMatch OMIM:603010 semapv:UnspecifiedMatching DOID:0110473 autosomal recessive nonsyndromic deafness 18A oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110473 autosomal recessive nonsyndromic deafness 18A oboInOwl:hasDbXref OMIM:602092 semapv:UnspecifiedMatching -DOID:0110473 autosomal recessive nonsyndromic deafness 18A skos:exactMatch OMIM:602092 semapv:UnspecifiedMatching DOID:0110474 autosomal recessive nonsyndromic deafness 18B oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110474 autosomal recessive nonsyndromic deafness 18B oboInOwl:hasDbXref OMIM:614945 semapv:UnspecifiedMatching -DOID:0110474 autosomal recessive nonsyndromic deafness 18B skos:exactMatch OMIM:614945 semapv:UnspecifiedMatching DOID:0110475 autosomal recessive nonsyndromic deafness 1A oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110475 autosomal recessive nonsyndromic deafness 1A oboInOwl:hasDbXref OMIM:220290 semapv:UnspecifiedMatching -DOID:0110475 autosomal recessive nonsyndromic deafness 1A skos:exactMatch OMIM:220290 semapv:UnspecifiedMatching DOID:0110476 autosomal recessive nonsyndromic deafness 1B oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110476 autosomal recessive nonsyndromic deafness 1B oboInOwl:hasDbXref OMIM:612645 semapv:UnspecifiedMatching -DOID:0110476 autosomal recessive nonsyndromic deafness 1B skos:exactMatch OMIM:612645 semapv:UnspecifiedMatching DOID:0110477 autosomal recessive nonsyndromic deafness 2 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110477 autosomal recessive nonsyndromic deafness 2 oboInOwl:hasDbXref OMIM:600060 semapv:UnspecifiedMatching -DOID:0110477 autosomal recessive nonsyndromic deafness 2 skos:exactMatch OMIM:600060 semapv:UnspecifiedMatching DOID:0110478 autosomal recessive nonsyndromic deafness 20 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110478 autosomal recessive nonsyndromic deafness 20 oboInOwl:hasDbXref OMIM:604060 semapv:UnspecifiedMatching -DOID:0110478 autosomal recessive nonsyndromic deafness 20 skos:exactMatch OMIM:604060 semapv:UnspecifiedMatching DOID:0110479 autosomal recessive nonsyndromic deafness 21 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110479 autosomal recessive nonsyndromic deafness 21 oboInOwl:hasDbXref OMIM:603629 semapv:UnspecifiedMatching -DOID:0110479 autosomal recessive nonsyndromic deafness 21 skos:exactMatch OMIM:603629 semapv:UnspecifiedMatching DOID:0110480 autosomal recessive nonsyndromic deafness 22 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110480 autosomal recessive nonsyndromic deafness 22 oboInOwl:hasDbXref OMIM:607039 semapv:UnspecifiedMatching -DOID:0110480 autosomal recessive nonsyndromic deafness 22 skos:exactMatch OMIM:607039 semapv:UnspecifiedMatching DOID:0110481 autosomal recessive nonsyndromic deafness 23 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110481 autosomal recessive nonsyndromic deafness 23 oboInOwl:hasDbXref OMIM:609533 semapv:UnspecifiedMatching -DOID:0110481 autosomal recessive nonsyndromic deafness 23 skos:exactMatch OMIM:609533 semapv:UnspecifiedMatching DOID:0110482 autosomal recessive nonsyndromic deafness 24 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110482 autosomal recessive nonsyndromic deafness 24 oboInOwl:hasDbXref OMIM:611022 semapv:UnspecifiedMatching -DOID:0110482 autosomal recessive nonsyndromic deafness 24 skos:exactMatch OMIM:611022 semapv:UnspecifiedMatching DOID:0110483 autosomal recessive nonsyndromic deafness 25 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110483 autosomal recessive nonsyndromic deafness 25 oboInOwl:hasDbXref OMIM:613285 semapv:UnspecifiedMatching -DOID:0110483 autosomal recessive nonsyndromic deafness 25 skos:exactMatch OMIM:613285 semapv:UnspecifiedMatching DOID:0110484 autosomal recessive nonsyndromic deafness 26 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110484 autosomal recessive nonsyndromic deafness 26 oboInOwl:hasDbXref OMIM:605428 semapv:UnspecifiedMatching -DOID:0110484 autosomal recessive nonsyndromic deafness 26 skos:exactMatch OMIM:605428 semapv:UnspecifiedMatching DOID:0110485 autosomal recessive nonsyndromic deafness 27 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110485 autosomal recessive nonsyndromic deafness 27 oboInOwl:hasDbXref OMIM:605818 semapv:UnspecifiedMatching -DOID:0110485 autosomal recessive nonsyndromic deafness 27 skos:exactMatch OMIM:605818 semapv:UnspecifiedMatching DOID:0110486 autosomal recessive nonsyndromic deafness 28 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110486 autosomal recessive nonsyndromic deafness 28 oboInOwl:hasDbXref OMIM:609823 semapv:UnspecifiedMatching -DOID:0110486 autosomal recessive nonsyndromic deafness 28 skos:exactMatch OMIM:609823 semapv:UnspecifiedMatching DOID:0110487 autosomal recessive nonsyndromic deafness 29 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110487 autosomal recessive nonsyndromic deafness 29 oboInOwl:hasDbXref OMIM:614035 semapv:UnspecifiedMatching -DOID:0110487 autosomal recessive nonsyndromic deafness 29 skos:exactMatch OMIM:614035 semapv:UnspecifiedMatching DOID:0110488 autosomal recessive nonsyndromic deafness 3 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110488 autosomal recessive nonsyndromic deafness 3 oboInOwl:hasDbXref OMIM:600316 semapv:UnspecifiedMatching -DOID:0110488 autosomal recessive nonsyndromic deafness 3 skos:exactMatch OMIM:600316 semapv:UnspecifiedMatching DOID:0110489 autosomal recessive nonsyndromic deafness 30 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110489 autosomal recessive nonsyndromic deafness 30 oboInOwl:hasDbXref OMIM:607101 semapv:UnspecifiedMatching DOID:0110489 autosomal recessive nonsyndromic deafness 30 oboInOwl:hasDbXref ORDO:90636 semapv:UnspecifiedMatching -DOID:0110489 autosomal recessive nonsyndromic deafness 30 skos:exactMatch OMIM:607101 semapv:UnspecifiedMatching DOID:0110490 autosomal recessive nonsyndromic deafness 31 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110490 autosomal recessive nonsyndromic deafness 31 oboInOwl:hasDbXref OMIM:607084 semapv:UnspecifiedMatching -DOID:0110490 autosomal recessive nonsyndromic deafness 31 skos:exactMatch OMIM:607084 semapv:UnspecifiedMatching DOID:0110491 autosomal recessive nonsyndromic deafness 32 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110491 autosomal recessive nonsyndromic deafness 32 oboInOwl:hasDbXref OMIM:608653 semapv:UnspecifiedMatching -DOID:0110491 autosomal recessive nonsyndromic deafness 32 skos:exactMatch OMIM:608653 semapv:UnspecifiedMatching DOID:0110492 autosomal recessive nonsyndromic deafness 33 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110492 autosomal recessive nonsyndromic deafness 33 oboInOwl:hasDbXref OMIM:607239 semapv:UnspecifiedMatching -DOID:0110492 autosomal recessive nonsyndromic deafness 33 skos:exactMatch OMIM:607239 semapv:UnspecifiedMatching DOID:0110493 autosomal recessive nonsyndromic deafness 35 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110493 autosomal recessive nonsyndromic deafness 35 oboInOwl:hasDbXref OMIM:608565 semapv:UnspecifiedMatching -DOID:0110493 autosomal recessive nonsyndromic deafness 35 skos:exactMatch OMIM:608565 semapv:UnspecifiedMatching DOID:0110494 autosomal recessive nonsyndromic deafness 36 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110494 autosomal recessive nonsyndromic deafness 36 oboInOwl:hasDbXref OMIM:609006 semapv:UnspecifiedMatching -DOID:0110494 autosomal recessive nonsyndromic deafness 36 skos:exactMatch OMIM:609006 semapv:UnspecifiedMatching DOID:0110495 autosomal recessive nonsyndromic deafness 37 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110495 autosomal recessive nonsyndromic deafness 37 oboInOwl:hasDbXref OMIM:607821 semapv:UnspecifiedMatching -DOID:0110495 autosomal recessive nonsyndromic deafness 37 skos:exactMatch OMIM:607821 semapv:UnspecifiedMatching DOID:0110496 autosomal recessive nonsyndromic deafness 38 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110496 autosomal recessive nonsyndromic deafness 38 oboInOwl:hasDbXref OMIM:608219 semapv:UnspecifiedMatching -DOID:0110496 autosomal recessive nonsyndromic deafness 38 skos:exactMatch OMIM:608219 semapv:UnspecifiedMatching DOID:0110497 autosomal recessive nonsyndromic deafness 39 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110497 autosomal recessive nonsyndromic deafness 39 oboInOwl:hasDbXref OMIM:608265 semapv:UnspecifiedMatching -DOID:0110497 autosomal recessive nonsyndromic deafness 39 skos:exactMatch OMIM:608265 semapv:UnspecifiedMatching DOID:0110498 autosomal recessive nonsyndromic deafness 4 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110498 autosomal recessive nonsyndromic deafness 4 oboInOwl:hasDbXref OMIM:600791 semapv:UnspecifiedMatching -DOID:0110498 autosomal recessive nonsyndromic deafness 4 skos:exactMatch OMIM:600791 semapv:UnspecifiedMatching DOID:0110499 autosomal recessive nonsyndromic deafness 40 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110499 autosomal recessive nonsyndromic deafness 40 oboInOwl:hasDbXref OMIM:608264 semapv:UnspecifiedMatching -DOID:0110499 autosomal recessive nonsyndromic deafness 40 skos:exactMatch OMIM:608264 semapv:UnspecifiedMatching DOID:0110500 autosomal recessive nonsyndromic deafness 42 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110500 autosomal recessive nonsyndromic deafness 42 oboInOwl:hasDbXref OMIM:609646 semapv:UnspecifiedMatching -DOID:0110500 autosomal recessive nonsyndromic deafness 42 skos:exactMatch OMIM:609646 semapv:UnspecifiedMatching DOID:0110501 autosomal recessive nonsyndromic deafness 44 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110501 autosomal recessive nonsyndromic deafness 44 oboInOwl:hasDbXref OMIM:610154 semapv:UnspecifiedMatching -DOID:0110501 autosomal recessive nonsyndromic deafness 44 skos:exactMatch OMIM:610154 semapv:UnspecifiedMatching DOID:0110502 autosomal recessive nonsyndromic deafness 45 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110502 autosomal recessive nonsyndromic deafness 45 oboInOwl:hasDbXref OMIM:612433 semapv:UnspecifiedMatching -DOID:0110502 autosomal recessive nonsyndromic deafness 45 skos:exactMatch OMIM:612433 semapv:UnspecifiedMatching DOID:0110503 autosomal recessive nonsyndromic deafness 46 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110503 autosomal recessive nonsyndromic deafness 46 oboInOwl:hasDbXref OMIM:609647 semapv:UnspecifiedMatching -DOID:0110503 autosomal recessive nonsyndromic deafness 46 skos:exactMatch OMIM:609647 semapv:UnspecifiedMatching DOID:0110504 autosomal recessive nonsyndromic deafness 47 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110504 autosomal recessive nonsyndromic deafness 47 oboInOwl:hasDbXref OMIM:609946 semapv:UnspecifiedMatching -DOID:0110504 autosomal recessive nonsyndromic deafness 47 skos:exactMatch OMIM:609946 semapv:UnspecifiedMatching DOID:0110505 autosomal recessive nonsyndromic deafness 48 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110505 autosomal recessive nonsyndromic deafness 48 oboInOwl:hasDbXref OMIM:609439 semapv:UnspecifiedMatching -DOID:0110505 autosomal recessive nonsyndromic deafness 48 skos:exactMatch OMIM:609439 semapv:UnspecifiedMatching DOID:0110506 autosomal recessive nonsyndromic deafness 49 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110506 autosomal recessive nonsyndromic deafness 49 oboInOwl:hasDbXref OMIM:610153 semapv:UnspecifiedMatching -DOID:0110506 autosomal recessive nonsyndromic deafness 49 skos:exactMatch OMIM:610153 semapv:UnspecifiedMatching DOID:0110507 autosomal recessive nonsyndromic deafness 5 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110507 autosomal recessive nonsyndromic deafness 5 oboInOwl:hasDbXref OMIM:600792 semapv:UnspecifiedMatching -DOID:0110507 autosomal recessive nonsyndromic deafness 5 skos:exactMatch OMIM:600792 semapv:UnspecifiedMatching DOID:0110508 autosomal recessive nonsyndromic deafness 51 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110508 autosomal recessive nonsyndromic deafness 51 oboInOwl:hasDbXref OMIM:609941 semapv:UnspecifiedMatching -DOID:0110508 autosomal recessive nonsyndromic deafness 51 skos:exactMatch OMIM:609941 semapv:UnspecifiedMatching DOID:0110509 autosomal recessive nonsyndromic deafness 53 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110509 autosomal recessive nonsyndromic deafness 53 oboInOwl:hasDbXref OMIM:609706 semapv:UnspecifiedMatching -DOID:0110509 autosomal recessive nonsyndromic deafness 53 skos:exactMatch OMIM:609706 semapv:UnspecifiedMatching DOID:0110510 autosomal recessive nonsyndromic deafness 55 oboInOwl:hasDbXref GARD:9919 semapv:UnspecifiedMatching DOID:0110510 autosomal recessive nonsyndromic deafness 55 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110510 autosomal recessive nonsyndromic deafness 55 oboInOwl:hasDbXref OMIM:609952 semapv:UnspecifiedMatching -DOID:0110510 autosomal recessive nonsyndromic deafness 55 skos:exactMatch OMIM:609952 semapv:UnspecifiedMatching DOID:0110511 autosomal recessive nonsyndromic deafness 59 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110511 autosomal recessive nonsyndromic deafness 59 oboInOwl:hasDbXref OMIM:610220 semapv:UnspecifiedMatching -DOID:0110511 autosomal recessive nonsyndromic deafness 59 skos:exactMatch OMIM:610220 semapv:UnspecifiedMatching DOID:0110512 autosomal recessive nonsyndromic deafness 6 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110512 autosomal recessive nonsyndromic deafness 6 oboInOwl:hasDbXref OMIM:600971 semapv:UnspecifiedMatching -DOID:0110512 autosomal recessive nonsyndromic deafness 6 skos:exactMatch OMIM:600971 semapv:UnspecifiedMatching DOID:0110513 autosomal recessive nonsyndromic deafness 61 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110513 autosomal recessive nonsyndromic deafness 61 oboInOwl:hasDbXref OMIM:613865 semapv:UnspecifiedMatching -DOID:0110513 autosomal recessive nonsyndromic deafness 61 skos:exactMatch OMIM:613865 semapv:UnspecifiedMatching DOID:0110514 autosomal recessive nonsyndromic deafness 62 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110514 autosomal recessive nonsyndromic deafness 62 oboInOwl:hasDbXref OMIM:610143 semapv:UnspecifiedMatching -DOID:0110514 autosomal recessive nonsyndromic deafness 62 skos:exactMatch OMIM:610143 semapv:UnspecifiedMatching DOID:0110515 autosomal recessive nonsyndromic deafness 63 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110515 autosomal recessive nonsyndromic deafness 63 oboInOwl:hasDbXref OMIM:611451 semapv:UnspecifiedMatching -DOID:0110515 autosomal recessive nonsyndromic deafness 63 skos:exactMatch OMIM:611451 semapv:UnspecifiedMatching DOID:0110516 autosomal recessive nonsyndromic deafness 65 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110516 autosomal recessive nonsyndromic deafness 65 oboInOwl:hasDbXref OMIM:610248 semapv:UnspecifiedMatching -DOID:0110516 autosomal recessive nonsyndromic deafness 65 skos:exactMatch OMIM:610248 semapv:UnspecifiedMatching DOID:0110517 autosomal recessive nonsyndromic deafness 66 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110517 autosomal recessive nonsyndromic deafness 66 oboInOwl:hasDbXref OMIM:610212 semapv:UnspecifiedMatching -DOID:0110517 autosomal recessive nonsyndromic deafness 66 skos:exactMatch OMIM:610212 semapv:UnspecifiedMatching DOID:0110518 autosomal recessive nonsyndromic deafness 67 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110518 autosomal recessive nonsyndromic deafness 67 oboInOwl:hasDbXref OMIM:610265 semapv:UnspecifiedMatching -DOID:0110518 autosomal recessive nonsyndromic deafness 67 skos:exactMatch OMIM:610265 semapv:UnspecifiedMatching DOID:0110519 autosomal recessive nonsyndromic deafness 68 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110519 autosomal recessive nonsyndromic deafness 68 oboInOwl:hasDbXref OMIM:610419 semapv:UnspecifiedMatching -DOID:0110519 autosomal recessive nonsyndromic deafness 68 skos:exactMatch OMIM:610419 semapv:UnspecifiedMatching DOID:0110520 autosomal recessive nonsyndromic deafness 7 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110520 autosomal recessive nonsyndromic deafness 7 oboInOwl:hasDbXref OMIM:600974 semapv:UnspecifiedMatching -DOID:0110520 autosomal recessive nonsyndromic deafness 7 skos:exactMatch OMIM:600974 semapv:UnspecifiedMatching DOID:0110521 autosomal recessive nonsyndromic deafness 70 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110521 autosomal recessive nonsyndromic deafness 70 oboInOwl:hasDbXref OMIM:614934 semapv:UnspecifiedMatching -DOID:0110521 autosomal recessive nonsyndromic deafness 70 skos:exactMatch OMIM:614934 semapv:UnspecifiedMatching DOID:0110522 autosomal recessive nonsyndromic deafness 71 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110522 autosomal recessive nonsyndromic deafness 71 oboInOwl:hasDbXref OMIM:612789 semapv:UnspecifiedMatching -DOID:0110522 autosomal recessive nonsyndromic deafness 71 skos:exactMatch OMIM:612789 semapv:UnspecifiedMatching DOID:0110523 autosomal recessive nonsyndromic deafness 74 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110523 autosomal recessive nonsyndromic deafness 74 oboInOwl:hasDbXref OMIM:613718 semapv:UnspecifiedMatching -DOID:0110523 autosomal recessive nonsyndromic deafness 74 skos:exactMatch OMIM:613718 semapv:UnspecifiedMatching DOID:0110524 autosomal recessive nonsyndromic deafness 76 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110524 autosomal recessive nonsyndromic deafness 76 oboInOwl:hasDbXref OMIM:615540 semapv:UnspecifiedMatching -DOID:0110524 autosomal recessive nonsyndromic deafness 76 skos:exactMatch OMIM:615540 semapv:UnspecifiedMatching DOID:0110525 autosomal recessive nonsyndromic deafness 77 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110525 autosomal recessive nonsyndromic deafness 77 oboInOwl:hasDbXref OMIM:613079 semapv:UnspecifiedMatching -DOID:0110525 autosomal recessive nonsyndromic deafness 77 skos:exactMatch OMIM:613079 semapv:UnspecifiedMatching DOID:0110526 autosomal recessive nonsyndromic deafness 79 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110526 autosomal recessive nonsyndromic deafness 79 oboInOwl:hasDbXref OMIM:613307 semapv:UnspecifiedMatching -DOID:0110526 autosomal recessive nonsyndromic deafness 79 skos:exactMatch OMIM:613307 semapv:UnspecifiedMatching DOID:0110527 autosomal recessive nonsyndromic deafness 8 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110527 autosomal recessive nonsyndromic deafness 8 oboInOwl:hasDbXref OMIM:601072 semapv:UnspecifiedMatching -DOID:0110527 autosomal recessive nonsyndromic deafness 8 skos:exactMatch OMIM:601072 semapv:UnspecifiedMatching DOID:0110528 autosomal recessive nonsyndromic deafness 83 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110528 autosomal recessive nonsyndromic deafness 83 oboInOwl:hasDbXref OMIM:613685 semapv:UnspecifiedMatching -DOID:0110528 autosomal recessive nonsyndromic deafness 83 skos:exactMatch OMIM:613685 semapv:UnspecifiedMatching DOID:0110529 autosomal recessive nonsyndromic deafness 84A oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110529 autosomal recessive nonsyndromic deafness 84A oboInOwl:hasDbXref OMIM:613391 semapv:UnspecifiedMatching -DOID:0110529 autosomal recessive nonsyndromic deafness 84A skos:exactMatch OMIM:613391 semapv:UnspecifiedMatching DOID:0110530 autosomal recessive nonsyndromic deafness 84B oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110530 autosomal recessive nonsyndromic deafness 84B oboInOwl:hasDbXref OMIM:614944 semapv:UnspecifiedMatching -DOID:0110530 autosomal recessive nonsyndromic deafness 84B skos:exactMatch OMIM:614944 semapv:UnspecifiedMatching DOID:0110531 autosomal recessive nonsyndromic deafness 85 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110531 autosomal recessive nonsyndromic deafness 85 oboInOwl:hasDbXref OMIM:613392 semapv:UnspecifiedMatching -DOID:0110531 autosomal recessive nonsyndromic deafness 85 skos:exactMatch OMIM:613392 semapv:UnspecifiedMatching DOID:0110532 autosomal recessive nonsyndromic deafness 86 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110532 autosomal recessive nonsyndromic deafness 86 oboInOwl:hasDbXref OMIM:614617 semapv:UnspecifiedMatching -DOID:0110532 autosomal recessive nonsyndromic deafness 86 skos:exactMatch OMIM:614617 semapv:UnspecifiedMatching DOID:0110533 autosomal recessive nonsyndromic deafness 88 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110533 autosomal recessive nonsyndromic deafness 88 oboInOwl:hasDbXref OMIM:615429 semapv:UnspecifiedMatching -DOID:0110533 autosomal recessive nonsyndromic deafness 88 skos:exactMatch OMIM:615429 semapv:UnspecifiedMatching DOID:0110534 autosomal recessive nonsyndromic deafness 89 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110534 autosomal recessive nonsyndromic deafness 89 oboInOwl:hasDbXref OMIM:613916 semapv:UnspecifiedMatching -DOID:0110534 autosomal recessive nonsyndromic deafness 89 skos:exactMatch OMIM:613916 semapv:UnspecifiedMatching DOID:0110535 autosomal recessive nonsyndromic deafness 9 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110535 autosomal recessive nonsyndromic deafness 9 oboInOwl:hasDbXref OMIM:601071 semapv:UnspecifiedMatching -DOID:0110535 autosomal recessive nonsyndromic deafness 9 skos:exactMatch OMIM:601071 semapv:UnspecifiedMatching DOID:0110536 autosomal recessive nonsyndromic deafness 91 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110536 autosomal recessive nonsyndromic deafness 91 oboInOwl:hasDbXref OMIM:613453 semapv:UnspecifiedMatching -DOID:0110536 autosomal recessive nonsyndromic deafness 91 skos:exactMatch OMIM:613453 semapv:UnspecifiedMatching DOID:0110537 autosomal recessive nonsyndromic deafness 93 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110537 autosomal recessive nonsyndromic deafness 93 oboInOwl:hasDbXref OMIM:614899 semapv:UnspecifiedMatching -DOID:0110537 autosomal recessive nonsyndromic deafness 93 skos:exactMatch OMIM:614899 semapv:UnspecifiedMatching DOID:0110538 autosomal recessive nonsyndromic deafness 96 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110538 autosomal recessive nonsyndromic deafness 96 oboInOwl:hasDbXref OMIM:614414 semapv:UnspecifiedMatching -DOID:0110538 autosomal recessive nonsyndromic deafness 96 skos:exactMatch OMIM:614414 semapv:UnspecifiedMatching DOID:0110539 autosomal recessive nonsyndromic deafness 97 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110539 autosomal recessive nonsyndromic deafness 97 oboInOwl:hasDbXref OMIM:616705 semapv:UnspecifiedMatching -DOID:0110539 autosomal recessive nonsyndromic deafness 97 skos:exactMatch OMIM:616705 semapv:UnspecifiedMatching DOID:0110540 autosomal recessive nonsyndromic deafness 98 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110540 autosomal recessive nonsyndromic deafness 98 oboInOwl:hasDbXref OMIM:614861 semapv:UnspecifiedMatching -DOID:0110540 autosomal recessive nonsyndromic deafness 98 skos:exactMatch OMIM:614861 semapv:UnspecifiedMatching DOID:0110541 autosomal dominant nonsyndromic deafness 1 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110541 autosomal dominant nonsyndromic deafness 1 oboInOwl:hasDbXref OMIM:124900 semapv:UnspecifiedMatching -DOID:0110541 autosomal dominant nonsyndromic deafness 1 skos:exactMatch OMIM:124900 semapv:UnspecifiedMatching DOID:0110542 autosomal dominant nonsyndromic deafness 10 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110542 autosomal dominant nonsyndromic deafness 10 oboInOwl:hasDbXref OMIM:601316 semapv:UnspecifiedMatching -DOID:0110542 autosomal dominant nonsyndromic deafness 10 skos:exactMatch OMIM:601316 semapv:UnspecifiedMatching DOID:0110543 autosomal dominant nonsyndromic deafness 11 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110543 autosomal dominant nonsyndromic deafness 11 oboInOwl:hasDbXref OMIM:601317 semapv:UnspecifiedMatching -DOID:0110543 autosomal dominant nonsyndromic deafness 11 skos:exactMatch OMIM:601317 semapv:UnspecifiedMatching DOID:0110544 autosomal dominant nonsyndromic deafness 12 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110544 autosomal dominant nonsyndromic deafness 12 oboInOwl:hasDbXref OMIM:601543 semapv:UnspecifiedMatching -DOID:0110544 autosomal dominant nonsyndromic deafness 12 skos:exactMatch OMIM:601543 semapv:UnspecifiedMatching DOID:0110545 autosomal dominant nonsyndromic deafness 13 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110545 autosomal dominant nonsyndromic deafness 13 oboInOwl:hasDbXref OMIM:601868 semapv:UnspecifiedMatching -DOID:0110545 autosomal dominant nonsyndromic deafness 13 skos:exactMatch OMIM:601868 semapv:UnspecifiedMatching DOID:0110546 autosomal dominant nonsyndromic deafness 15 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110546 autosomal dominant nonsyndromic deafness 15 oboInOwl:hasDbXref OMIM:602459 semapv:UnspecifiedMatching -DOID:0110546 autosomal dominant nonsyndromic deafness 15 skos:exactMatch OMIM:602459 semapv:UnspecifiedMatching DOID:0110547 autosomal dominant nonsyndromic deafness 16 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110547 autosomal dominant nonsyndromic deafness 16 oboInOwl:hasDbXref OMIM:603964 semapv:UnspecifiedMatching -DOID:0110547 autosomal dominant nonsyndromic deafness 16 skos:exactMatch OMIM:603964 semapv:UnspecifiedMatching DOID:0110548 autosomal dominant nonsyndromic deafness 17 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110548 autosomal dominant nonsyndromic deafness 17 oboInOwl:hasDbXref OMIM:603622 semapv:UnspecifiedMatching -DOID:0110548 autosomal dominant nonsyndromic deafness 17 skos:exactMatch OMIM:603622 semapv:UnspecifiedMatching DOID:0110549 autosomal dominant nonsyndromic deafness 18 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110549 autosomal dominant nonsyndromic deafness 18 oboInOwl:hasDbXref OMIM:606012 semapv:UnspecifiedMatching -DOID:0110549 autosomal dominant nonsyndromic deafness 18 skos:exactMatch OMIM:606012 semapv:UnspecifiedMatching DOID:0110550 autosomal dominant nonsyndromic deafness 20 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110550 autosomal dominant nonsyndromic deafness 20 oboInOwl:hasDbXref OMIM:604717 semapv:UnspecifiedMatching -DOID:0110550 autosomal dominant nonsyndromic deafness 20 skos:exactMatch OMIM:604717 semapv:UnspecifiedMatching DOID:0110551 autosomal dominant nonsyndromic deafness 21 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110551 autosomal dominant nonsyndromic deafness 21 oboInOwl:hasDbXref OMIM:607017 semapv:UnspecifiedMatching -DOID:0110551 autosomal dominant nonsyndromic deafness 21 skos:exactMatch OMIM:607017 semapv:UnspecifiedMatching DOID:0110552 autosomal dominant nonsyndromic deafness 22 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110552 autosomal dominant nonsyndromic deafness 22 oboInOwl:hasDbXref OMIM:606346 semapv:UnspecifiedMatching -DOID:0110552 autosomal dominant nonsyndromic deafness 22 skos:exactMatch OMIM:606346 semapv:UnspecifiedMatching DOID:0110553 autosomal dominant nonsyndromic deafness 23 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110553 autosomal dominant nonsyndromic deafness 23 oboInOwl:hasDbXref OMIM:605192 semapv:UnspecifiedMatching -DOID:0110553 autosomal dominant nonsyndromic deafness 23 skos:exactMatch OMIM:605192 semapv:UnspecifiedMatching DOID:0110554 autosomal dominant nonsyndromic deafness 24 oboInOwl:hasDbXref GARD:9166 semapv:UnspecifiedMatching DOID:0110554 autosomal dominant nonsyndromic deafness 24 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110554 autosomal dominant nonsyndromic deafness 24 oboInOwl:hasDbXref OMIM:606282 semapv:UnspecifiedMatching -DOID:0110554 autosomal dominant nonsyndromic deafness 24 skos:exactMatch OMIM:606282 semapv:UnspecifiedMatching DOID:0110555 autosomal dominant nonsyndromic deafness 25 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110555 autosomal dominant nonsyndromic deafness 25 oboInOwl:hasDbXref OMIM:605583 semapv:UnspecifiedMatching -DOID:0110555 autosomal dominant nonsyndromic deafness 25 skos:exactMatch OMIM:605583 semapv:UnspecifiedMatching DOID:0110556 autosomal dominant nonsyndromic deafness 27 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110556 autosomal dominant nonsyndromic deafness 27 oboInOwl:hasDbXref OMIM:612431 semapv:UnspecifiedMatching -DOID:0110556 autosomal dominant nonsyndromic deafness 27 skos:exactMatch OMIM:612431 semapv:UnspecifiedMatching DOID:0110557 autosomal dominant nonsyndromic deafness 28 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110557 autosomal dominant nonsyndromic deafness 28 oboInOwl:hasDbXref OMIM:608641 semapv:UnspecifiedMatching -DOID:0110557 autosomal dominant nonsyndromic deafness 28 skos:exactMatch OMIM:608641 semapv:UnspecifiedMatching DOID:0110558 autosomal dominant nonsyndromic deafness 2A oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110558 autosomal dominant nonsyndromic deafness 2A oboInOwl:hasDbXref OMIM:600101 semapv:UnspecifiedMatching -DOID:0110558 autosomal dominant nonsyndromic deafness 2A skos:exactMatch OMIM:600101 semapv:UnspecifiedMatching DOID:0110559 autosomal dominant nonsyndromic deafness 2B oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110559 autosomal dominant nonsyndromic deafness 2B oboInOwl:hasDbXref OMIM:612644 semapv:UnspecifiedMatching -DOID:0110559 autosomal dominant nonsyndromic deafness 2B skos:exactMatch OMIM:612644 semapv:UnspecifiedMatching DOID:0110560 autosomal dominant nonsyndromic deafness 30 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110560 autosomal dominant nonsyndromic deafness 30 oboInOwl:hasDbXref OMIM:606451 semapv:UnspecifiedMatching -DOID:0110560 autosomal dominant nonsyndromic deafness 30 skos:exactMatch OMIM:606451 semapv:UnspecifiedMatching DOID:0110561 autosomal dominant nonsyndromic deafness 31 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110561 autosomal dominant nonsyndromic deafness 31 oboInOwl:hasDbXref OMIM:608645 semapv:UnspecifiedMatching -DOID:0110561 autosomal dominant nonsyndromic deafness 31 skos:exactMatch OMIM:608645 semapv:UnspecifiedMatching DOID:0110562 autosomal dominant nonsyndromic deafness 33 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110562 autosomal dominant nonsyndromic deafness 33 oboInOwl:hasDbXref OMIM:614211 semapv:UnspecifiedMatching -DOID:0110562 autosomal dominant nonsyndromic deafness 33 skos:exactMatch OMIM:614211 semapv:UnspecifiedMatching DOID:0110563 autosomal dominant nonsyndromic deafness 36 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110563 autosomal dominant nonsyndromic deafness 36 oboInOwl:hasDbXref OMIM:606705 semapv:UnspecifiedMatching -DOID:0110563 autosomal dominant nonsyndromic deafness 36 skos:exactMatch OMIM:606705 semapv:UnspecifiedMatching DOID:0110564 autosomal dominant nonsyndromic deafness 3A oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110564 autosomal dominant nonsyndromic deafness 3A oboInOwl:hasDbXref OMIM:601544 semapv:UnspecifiedMatching -DOID:0110564 autosomal dominant nonsyndromic deafness 3A skos:exactMatch OMIM:601544 semapv:UnspecifiedMatching DOID:0110565 autosomal dominant nonsyndromic deafness 3B oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110565 autosomal dominant nonsyndromic deafness 3B oboInOwl:hasDbXref OMIM:612643 semapv:UnspecifiedMatching -DOID:0110565 autosomal dominant nonsyndromic deafness 3B skos:exactMatch OMIM:612643 semapv:UnspecifiedMatching DOID:0110566 autosomal dominant nonsyndromic deafness 40 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110566 autosomal dominant nonsyndromic deafness 40 oboInOwl:hasDbXref OMIM:616357 semapv:UnspecifiedMatching -DOID:0110566 autosomal dominant nonsyndromic deafness 40 skos:exactMatch OMIM:616357 semapv:UnspecifiedMatching DOID:0110567 autosomal dominant nonsyndromic deafness 41 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110567 autosomal dominant nonsyndromic deafness 41 oboInOwl:hasDbXref OMIM:608224 semapv:UnspecifiedMatching -DOID:0110567 autosomal dominant nonsyndromic deafness 41 skos:exactMatch OMIM:608224 semapv:UnspecifiedMatching DOID:0110568 autosomal dominant nonsyndromic deafness 43 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110568 autosomal dominant nonsyndromic deafness 43 oboInOwl:hasDbXref OMIM:608394 semapv:UnspecifiedMatching -DOID:0110568 autosomal dominant nonsyndromic deafness 43 skos:exactMatch OMIM:608394 semapv:UnspecifiedMatching DOID:0110569 autosomal dominant nonsyndromic deafness 44 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110569 autosomal dominant nonsyndromic deafness 44 oboInOwl:hasDbXref OMIM:607453 semapv:UnspecifiedMatching -DOID:0110569 autosomal dominant nonsyndromic deafness 44 skos:exactMatch OMIM:607453 semapv:UnspecifiedMatching DOID:0110570 autosomal dominant nonsyndromic deafness 47 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110570 autosomal dominant nonsyndromic deafness 47 oboInOwl:hasDbXref OMIM:608652 semapv:UnspecifiedMatching -DOID:0110570 autosomal dominant nonsyndromic deafness 47 skos:exactMatch OMIM:608652 semapv:UnspecifiedMatching DOID:0110571 autosomal dominant nonsyndromic deafness 48 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110571 autosomal dominant nonsyndromic deafness 48 oboInOwl:hasDbXref OMIM:607841 semapv:UnspecifiedMatching -DOID:0110571 autosomal dominant nonsyndromic deafness 48 skos:exactMatch OMIM:607841 semapv:UnspecifiedMatching DOID:0110572 autosomal dominant nonsyndromic deafness 49 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110572 autosomal dominant nonsyndromic deafness 49 oboInOwl:hasDbXref OMIM:608372 semapv:UnspecifiedMatching -DOID:0110572 autosomal dominant nonsyndromic deafness 49 skos:exactMatch OMIM:608372 semapv:UnspecifiedMatching DOID:0110573 autosomal dominant nonsyndromic deafness 4A oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110573 autosomal dominant nonsyndromic deafness 4A oboInOwl:hasDbXref OMIM:600652 semapv:UnspecifiedMatching -DOID:0110573 autosomal dominant nonsyndromic deafness 4A skos:exactMatch OMIM:600652 semapv:UnspecifiedMatching DOID:0110574 autosomal dominant nonsyndromic deafness 4B oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110574 autosomal dominant nonsyndromic deafness 4B oboInOwl:hasDbXref OMIM:614614 semapv:UnspecifiedMatching -DOID:0110574 autosomal dominant nonsyndromic deafness 4B skos:exactMatch OMIM:614614 semapv:UnspecifiedMatching DOID:0110575 autosomal dominant nonsyndromic deafness 5 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110575 autosomal dominant nonsyndromic deafness 5 oboInOwl:hasDbXref OMIM:600994 semapv:UnspecifiedMatching -DOID:0110575 autosomal dominant nonsyndromic deafness 5 skos:exactMatch OMIM:600994 semapv:UnspecifiedMatching DOID:0110576 autosomal dominant nonsyndromic deafness 50 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110576 autosomal dominant nonsyndromic deafness 50 oboInOwl:hasDbXref OMIM:613074 semapv:UnspecifiedMatching -DOID:0110576 autosomal dominant nonsyndromic deafness 50 skos:exactMatch OMIM:613074 semapv:UnspecifiedMatching DOID:0110577 autosomal dominant nonsyndromic deafness 51 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110577 autosomal dominant nonsyndromic deafness 51 oboInOwl:hasDbXref OMIM:613558 semapv:UnspecifiedMatching -DOID:0110577 autosomal dominant nonsyndromic deafness 51 skos:exactMatch OMIM:613558 semapv:UnspecifiedMatching DOID:0110578 autosomal dominant nonsyndromic deafness 52 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110578 autosomal dominant nonsyndromic deafness 52 oboInOwl:hasDbXref OMIM:607683 semapv:UnspecifiedMatching -DOID:0110578 autosomal dominant nonsyndromic deafness 52 skos:exactMatch OMIM:607683 semapv:UnspecifiedMatching DOID:0110579 autosomal dominant nonsyndromic deafness 53 oboInOwl:hasDbXref GARD:9934 semapv:UnspecifiedMatching DOID:0110579 autosomal dominant nonsyndromic deafness 53 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110579 autosomal dominant nonsyndromic deafness 53 oboInOwl:hasDbXref OMIM:609965 semapv:UnspecifiedMatching -DOID:0110579 autosomal dominant nonsyndromic deafness 53 skos:exactMatch OMIM:609965 semapv:UnspecifiedMatching DOID:0110580 autosomal dominant nonsyndromic deafness 54 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110580 autosomal dominant nonsyndromic deafness 54 oboInOwl:hasDbXref OMIM:615649 semapv:UnspecifiedMatching -DOID:0110580 autosomal dominant nonsyndromic deafness 54 skos:exactMatch OMIM:615649 semapv:UnspecifiedMatching DOID:0110581 autosomal dominant nonsyndromic deafness 56 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110581 autosomal dominant nonsyndromic deafness 56 oboInOwl:hasDbXref OMIM:615629 semapv:UnspecifiedMatching -DOID:0110581 autosomal dominant nonsyndromic deafness 56 skos:exactMatch OMIM:615629 semapv:UnspecifiedMatching DOID:0110582 autosomal dominant nonsyndromic deafness 58 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110582 autosomal dominant nonsyndromic deafness 58 oboInOwl:hasDbXref OMIM:615654 semapv:UnspecifiedMatching -DOID:0110582 autosomal dominant nonsyndromic deafness 58 skos:exactMatch OMIM:615654 semapv:UnspecifiedMatching DOID:0110583 autosomal dominant nonsyndromic deafness 59 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110583 autosomal dominant nonsyndromic deafness 59 oboInOwl:hasDbXref OMIM:612642 semapv:UnspecifiedMatching -DOID:0110583 autosomal dominant nonsyndromic deafness 59 skos:exactMatch OMIM:612642 semapv:UnspecifiedMatching DOID:0110584 autosomal dominant nonsyndromic deafness 6 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110584 autosomal dominant nonsyndromic deafness 6 oboInOwl:hasDbXref OMIM:600965 semapv:UnspecifiedMatching -DOID:0110584 autosomal dominant nonsyndromic deafness 6 skos:exactMatch OMIM:600965 semapv:UnspecifiedMatching DOID:0110585 autosomal dominant nonsyndromic deafness 64 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110585 autosomal dominant nonsyndromic deafness 64 oboInOwl:hasDbXref OMIM:614152 semapv:UnspecifiedMatching -DOID:0110585 autosomal dominant nonsyndromic deafness 64 skos:exactMatch OMIM:614152 semapv:UnspecifiedMatching DOID:0110586 autosomal dominant nonsyndromic deafness 65 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110586 autosomal dominant nonsyndromic deafness 65 oboInOwl:hasDbXref OMIM:616044 semapv:UnspecifiedMatching -DOID:0110586 autosomal dominant nonsyndromic deafness 65 skos:exactMatch OMIM:616044 semapv:UnspecifiedMatching DOID:0110587 autosomal dominant nonsyndromic deafness 66 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110587 autosomal dominant nonsyndromic deafness 66 oboInOwl:hasDbXref OMIM:616969 semapv:UnspecifiedMatching -DOID:0110587 autosomal dominant nonsyndromic deafness 66 skos:exactMatch OMIM:616969 semapv:UnspecifiedMatching DOID:0110588 autosomal dominant nonsyndromic deafness 67 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110588 autosomal dominant nonsyndromic deafness 67 oboInOwl:hasDbXref OMIM:616340 semapv:UnspecifiedMatching -DOID:0110588 autosomal dominant nonsyndromic deafness 67 skos:exactMatch OMIM:616340 semapv:UnspecifiedMatching DOID:0110589 autosomal dominant nonsyndromic deafness 68 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110589 autosomal dominant nonsyndromic deafness 68 oboInOwl:hasDbXref OMIM:616707 semapv:UnspecifiedMatching -DOID:0110589 autosomal dominant nonsyndromic deafness 68 skos:exactMatch OMIM:616707 semapv:UnspecifiedMatching DOID:0110590 autosomal dominant nonsyndromic deafness 69 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110590 autosomal dominant nonsyndromic deafness 69 oboInOwl:hasDbXref OMIM:616697 semapv:UnspecifiedMatching -DOID:0110590 autosomal dominant nonsyndromic deafness 69 skos:exactMatch OMIM:616697 semapv:UnspecifiedMatching DOID:0110591 autosomal dominant nonsyndromic deafness 7 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110591 autosomal dominant nonsyndromic deafness 7 oboInOwl:hasDbXref OMIM:601412 semapv:UnspecifiedMatching -DOID:0110591 autosomal dominant nonsyndromic deafness 7 skos:exactMatch OMIM:601412 semapv:UnspecifiedMatching DOID:0110592 autosomal dominant nonsyndromic deafness 70 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110592 autosomal dominant nonsyndromic deafness 70 oboInOwl:hasDbXref OMIM:616968 semapv:UnspecifiedMatching -DOID:0110592 autosomal dominant nonsyndromic deafness 70 skos:exactMatch OMIM:616968 semapv:UnspecifiedMatching DOID:0110593 autosomal dominant nonsyndromic deafness 9 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110593 autosomal dominant nonsyndromic deafness 9 oboInOwl:hasDbXref OMIM:601369 semapv:UnspecifiedMatching -DOID:0110593 autosomal dominant nonsyndromic deafness 9 skos:exactMatch OMIM:601369 semapv:UnspecifiedMatching DOID:0110594 primary ciliary dyskinesia 1 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching -DOID:0110594 primary ciliary dyskinesia 1 oboInOwl:hasDbXref OMIM:244400 semapv:UnspecifiedMatching -DOID:0110594 primary ciliary dyskinesia 1 skos:exactMatch OMIM:244400 semapv:UnspecifiedMatching DOID:0110595 Stromme syndrome oboInOwl:hasDbXref ICD10CM:Q87.8 semapv:UnspecifiedMatching -DOID:0110595 Stromme syndrome oboInOwl:hasDbXref OMIM:243605 semapv:UnspecifiedMatching -DOID:0110595 Stromme syndrome skos:exactMatch OMIM:243605 semapv:UnspecifiedMatching DOID:0110596 primary ciliary dyskinesia 21 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching -DOID:0110596 primary ciliary dyskinesia 21 oboInOwl:hasDbXref OMIM:615294 semapv:UnspecifiedMatching -DOID:0110596 primary ciliary dyskinesia 21 skos:exactMatch OMIM:615294 semapv:UnspecifiedMatching DOID:0110597 primary ciliary dyskinesia 22 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching -DOID:0110597 primary ciliary dyskinesia 22 oboInOwl:hasDbXref OMIM:615444 semapv:UnspecifiedMatching -DOID:0110597 primary ciliary dyskinesia 22 skos:exactMatch OMIM:615444 semapv:UnspecifiedMatching DOID:0110598 primary ciliary dyskinesia 14 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching -DOID:0110598 primary ciliary dyskinesia 14 oboInOwl:hasDbXref OMIM:613807 semapv:UnspecifiedMatching -DOID:0110598 primary ciliary dyskinesia 14 skos:exactMatch OMIM:613807 semapv:UnspecifiedMatching DOID:0110599 primary ciliary dyskinesia 3 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching -DOID:0110599 primary ciliary dyskinesia 3 oboInOwl:hasDbXref OMIM:608644 semapv:UnspecifiedMatching -DOID:0110599 primary ciliary dyskinesia 3 skos:exactMatch OMIM:608644 semapv:UnspecifiedMatching DOID:0110600 primary ciliary dyskinesia 29 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching -DOID:0110600 primary ciliary dyskinesia 29 oboInOwl:hasDbXref OMIM:615872 semapv:UnspecifiedMatching -DOID:0110600 primary ciliary dyskinesia 29 skos:exactMatch OMIM:615872 semapv:UnspecifiedMatching DOID:0110601 primary ciliary dyskinesia 12 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching -DOID:0110601 primary ciliary dyskinesia 12 oboInOwl:hasDbXref OMIM:612650 semapv:UnspecifiedMatching -DOID:0110601 primary ciliary dyskinesia 12 skos:exactMatch OMIM:612650 semapv:UnspecifiedMatching DOID:0110602 primary ciliary dyskinesia 11 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching -DOID:0110602 primary ciliary dyskinesia 11 oboInOwl:hasDbXref OMIM:612649 semapv:UnspecifiedMatching -DOID:0110602 primary ciliary dyskinesia 11 skos:exactMatch OMIM:612649 semapv:UnspecifiedMatching DOID:0110603 primary ciliary dyskinesia 32 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching -DOID:0110603 primary ciliary dyskinesia 32 oboInOwl:hasDbXref OMIM:616481 semapv:UnspecifiedMatching -DOID:0110603 primary ciliary dyskinesia 32 skos:exactMatch OMIM:616481 semapv:UnspecifiedMatching DOID:0110604 primary ciliary dyskinesia 18 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching -DOID:0110604 primary ciliary dyskinesia 18 oboInOwl:hasDbXref OMIM:614874 semapv:UnspecifiedMatching -DOID:0110604 primary ciliary dyskinesia 18 skos:exactMatch OMIM:614874 semapv:UnspecifiedMatching DOID:0110605 primary ciliary dyskinesia 7 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching -DOID:0110605 primary ciliary dyskinesia 7 oboInOwl:hasDbXref OMIM:611884 semapv:UnspecifiedMatching -DOID:0110605 primary ciliary dyskinesia 7 skos:exactMatch OMIM:611884 semapv:UnspecifiedMatching DOID:0110606 primary ciliary dyskinesia 6 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching -DOID:0110606 primary ciliary dyskinesia 6 oboInOwl:hasDbXref OMIM:610852 semapv:UnspecifiedMatching -DOID:0110606 primary ciliary dyskinesia 6 skos:exactMatch OMIM:610852 semapv:UnspecifiedMatching DOID:0110607 primary ciliary dyskinesia 28 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching -DOID:0110607 primary ciliary dyskinesia 28 oboInOwl:hasDbXref OMIM:615505 semapv:UnspecifiedMatching -DOID:0110607 primary ciliary dyskinesia 28 skos:exactMatch OMIM:615505 semapv:UnspecifiedMatching DOID:0110608 primary ciliary dyskinesia 19 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching -DOID:0110608 primary ciliary dyskinesia 19 oboInOwl:hasDbXref OMIM:614935 semapv:UnspecifiedMatching -DOID:0110608 primary ciliary dyskinesia 19 skos:exactMatch OMIM:614935 semapv:UnspecifiedMatching DOID:0110609 primary ciliary dyskinesia 23 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching -DOID:0110609 primary ciliary dyskinesia 23 oboInOwl:hasDbXref OMIM:615451 semapv:UnspecifiedMatching -DOID:0110609 primary ciliary dyskinesia 23 skos:exactMatch OMIM:615451 semapv:UnspecifiedMatching -DOID:0110610 primary ciliary dyskinesia 34 oboInOwl:hasDbXref OMIM:617091 semapv:UnspecifiedMatching -DOID:0110610 primary ciliary dyskinesia 34 skos:exactMatch OMIM:617091 semapv:UnspecifiedMatching DOID:0110611 primary ciliary dyskinesia 27 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching -DOID:0110611 primary ciliary dyskinesia 27 oboInOwl:hasDbXref OMIM:615504 semapv:UnspecifiedMatching -DOID:0110611 primary ciliary dyskinesia 27 skos:exactMatch OMIM:615504 semapv:UnspecifiedMatching DOID:0110612 primary ciliary dyskinesia 10 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching -DOID:0110612 primary ciliary dyskinesia 10 oboInOwl:hasDbXref OMIM:612518 semapv:UnspecifiedMatching -DOID:0110612 primary ciliary dyskinesia 10 skos:exactMatch OMIM:612518 semapv:UnspecifiedMatching DOID:0110613 primary ciliary dyskinesia 16 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching -DOID:0110613 primary ciliary dyskinesia 16 oboInOwl:hasDbXref OMIM:614017 semapv:UnspecifiedMatching -DOID:0110613 primary ciliary dyskinesia 16 skos:exactMatch OMIM:614017 semapv:UnspecifiedMatching DOID:0110614 primary ciliary dyskinesia 4 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching -DOID:0110614 primary ciliary dyskinesia 4 oboInOwl:hasDbXref OMIM:608646 semapv:UnspecifiedMatching -DOID:0110614 primary ciliary dyskinesia 4 skos:exactMatch OMIM:608646 semapv:UnspecifiedMatching DOID:0110615 primary ciliary dyskinesia 25 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching -DOID:0110615 primary ciliary dyskinesia 25 oboInOwl:hasDbXref OMIM:615482 semapv:UnspecifiedMatching -DOID:0110615 primary ciliary dyskinesia 25 skos:exactMatch OMIM:615482 semapv:UnspecifiedMatching DOID:0110616 primary ciliary dyskinesia 8 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching -DOID:0110616 primary ciliary dyskinesia 8 oboInOwl:hasDbXref OMIM:612274 semapv:UnspecifiedMatching -DOID:0110616 primary ciliary dyskinesia 8 skos:exactMatch OMIM:612274 semapv:UnspecifiedMatching DOID:0110617 primary ciliary dyskinesia 5 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching -DOID:0110617 primary ciliary dyskinesia 5 oboInOwl:hasDbXref OMIM:608647 semapv:UnspecifiedMatching -DOID:0110617 primary ciliary dyskinesia 5 skos:exactMatch OMIM:608647 semapv:UnspecifiedMatching DOID:0110618 primary ciliary dyskinesia 13 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching -DOID:0110618 primary ciliary dyskinesia 13 oboInOwl:hasDbXref OMIM:613193 semapv:UnspecifiedMatching -DOID:0110618 primary ciliary dyskinesia 13 skos:exactMatch OMIM:613193 semapv:UnspecifiedMatching DOID:0110619 primary ciliary dyskinesia 33 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching -DOID:0110619 primary ciliary dyskinesia 33 oboInOwl:hasDbXref OMIM:616726 semapv:UnspecifiedMatching -DOID:0110619 primary ciliary dyskinesia 33 skos:exactMatch OMIM:616726 semapv:UnspecifiedMatching -DOID:0110620 primary ciliary dyskinesia 35 oboInOwl:hasDbXref OMIM:617092 semapv:UnspecifiedMatching -DOID:0110620 primary ciliary dyskinesia 35 skos:exactMatch OMIM:617092 semapv:UnspecifiedMatching DOID:0110621 primary ciliary dyskinesia 17 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching -DOID:0110621 primary ciliary dyskinesia 17 oboInOwl:hasDbXref OMIM:614679 semapv:UnspecifiedMatching -DOID:0110621 primary ciliary dyskinesia 17 skos:exactMatch OMIM:614679 semapv:UnspecifiedMatching DOID:0110622 primary ciliary dyskinesia 9 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching -DOID:0110622 primary ciliary dyskinesia 9 oboInOwl:hasDbXref OMIM:612444 semapv:UnspecifiedMatching -DOID:0110622 primary ciliary dyskinesia 9 skos:exactMatch OMIM:612444 semapv:UnspecifiedMatching DOID:0110623 primary ciliary dyskinesia 15 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching -DOID:0110623 primary ciliary dyskinesia 15 oboInOwl:hasDbXref OMIM:613808 semapv:UnspecifiedMatching -DOID:0110623 primary ciliary dyskinesia 15 skos:exactMatch OMIM:613808 semapv:UnspecifiedMatching DOID:0110624 primary ciliary dyskinesia 30 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching -DOID:0110624 primary ciliary dyskinesia 30 oboInOwl:hasDbXref OMIM:616037 semapv:UnspecifiedMatching -DOID:0110624 primary ciliary dyskinesia 30 skos:exactMatch OMIM:616037 semapv:UnspecifiedMatching DOID:0110625 primary ciliary dyskinesia 20 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching -DOID:0110625 primary ciliary dyskinesia 20 oboInOwl:hasDbXref OMIM:615067 semapv:UnspecifiedMatching -DOID:0110625 primary ciliary dyskinesia 20 skos:exactMatch OMIM:615067 semapv:UnspecifiedMatching DOID:0110626 primary ciliary dyskinesia 2 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching -DOID:0110626 primary ciliary dyskinesia 2 oboInOwl:hasDbXref OMIM:606763 semapv:UnspecifiedMatching -DOID:0110626 primary ciliary dyskinesia 2 skos:exactMatch OMIM:606763 semapv:UnspecifiedMatching DOID:0110627 primary ciliary dyskinesia 26 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching -DOID:0110627 primary ciliary dyskinesia 26 oboInOwl:hasDbXref OMIM:615500 semapv:UnspecifiedMatching -DOID:0110627 primary ciliary dyskinesia 26 skos:exactMatch OMIM:615500 semapv:UnspecifiedMatching DOID:0110628 primary ciliary dyskinesia 24 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching -DOID:0110628 primary ciliary dyskinesia 24 oboInOwl:hasDbXref OMIM:615481 semapv:UnspecifiedMatching -DOID:0110628 primary ciliary dyskinesia 24 skos:exactMatch OMIM:615481 semapv:UnspecifiedMatching DOID:0110629 Wolfram syndrome 1 oboInOwl:hasDbXref ICD10CM:E13.8 semapv:UnspecifiedMatching -DOID:0110629 Wolfram syndrome 1 oboInOwl:hasDbXref OMIM:222300 semapv:UnspecifiedMatching -DOID:0110629 Wolfram syndrome 1 skos:exactMatch OMIM:222300 semapv:UnspecifiedMatching DOID:0110630 Wolfram syndrome 2 oboInOwl:hasDbXref ICD10CM:E13.8 semapv:UnspecifiedMatching DOID:0110630 Wolfram syndrome 2 oboInOwl:hasDbXref MESH:C565733 semapv:UnspecifiedMatching -DOID:0110630 Wolfram syndrome 2 oboInOwl:hasDbXref OMIM:604928 semapv:UnspecifiedMatching -DOID:0110630 Wolfram syndrome 2 skos:exactMatch OMIM:604928 semapv:UnspecifiedMatching DOID:0110632 megaconial type congenital muscular dystrophy oboInOwl:hasDbXref ICD10CM:G71.2 semapv:UnspecifiedMatching -DOID:0110632 megaconial type congenital muscular dystrophy oboInOwl:hasDbXref OMIM:602541 semapv:UnspecifiedMatching DOID:0110632 megaconial type congenital muscular dystrophy oboInOwl:hasDbXref ORDO:280671 semapv:UnspecifiedMatching -DOID:0110632 megaconial type congenital muscular dystrophy skos:exactMatch OMIM:602541 semapv:UnspecifiedMatching DOID:0110633 rigid spine muscular dystrophy 1 oboInOwl:hasDbXref GARD:4723 semapv:UnspecifiedMatching DOID:0110633 rigid spine muscular dystrophy 1 oboInOwl:hasDbXref ICD10CM:G71.2 semapv:UnspecifiedMatching DOID:0110633 rigid spine muscular dystrophy 1 oboInOwl:hasDbXref ICD10CM:G71.8 semapv:UnspecifiedMatching DOID:0110633 rigid spine muscular dystrophy 1 oboInOwl:hasDbXref MESH:C535683 semapv:UnspecifiedMatching -DOID:0110633 rigid spine muscular dystrophy 1 oboInOwl:hasDbXref OMIM:602771 semapv:UnspecifiedMatching DOID:0110633 rigid spine muscular dystrophy 1 oboInOwl:hasDbXref ORDO:324604 semapv:UnspecifiedMatching DOID:0110633 rigid spine muscular dystrophy 1 oboInOwl:hasDbXref ORDO:84132 semapv:UnspecifiedMatching DOID:0110633 rigid spine muscular dystrophy 1 oboInOwl:hasDbXref ORDO:97244 semapv:UnspecifiedMatching -DOID:0110633 rigid spine muscular dystrophy 1 skos:exactMatch OMIM:602771 semapv:UnspecifiedMatching DOID:0110634 congenital muscular dystrophy 1B oboInOwl:hasDbXref ICD10CM:G71.2 semapv:UnspecifiedMatching -DOID:0110634 congenital muscular dystrophy 1B oboInOwl:hasDbXref OMIM:604801 semapv:UnspecifiedMatching DOID:0110634 congenital muscular dystrophy 1B oboInOwl:hasDbXref ORDO:98893 semapv:UnspecifiedMatching -DOID:0110634 congenital muscular dystrophy 1B skos:exactMatch OMIM:604801 semapv:UnspecifiedMatching DOID:0110635 muscular dystrophy-dystroglycanopathy type B5 oboInOwl:hasDbXref ICD10CM:G71.2 semapv:UnspecifiedMatching -DOID:0110635 muscular dystrophy-dystroglycanopathy type B5 oboInOwl:hasDbXref OMIM:606612 semapv:UnspecifiedMatching DOID:0110635 muscular dystrophy-dystroglycanopathy type B5 oboInOwl:hasDbXref ORDO:52428 semapv:UnspecifiedMatching -DOID:0110635 muscular dystrophy-dystroglycanopathy type B5 skos:exactMatch OMIM:606612 semapv:UnspecifiedMatching DOID:0110636 congenital merosin-deficient muscular dystrophy 1A oboInOwl:hasDbXref MESH:C537384 semapv:UnspecifiedMatching DOID:0110636 congenital merosin-deficient muscular dystrophy 1A oboInOwl:hasDbXref NCI:C118783 semapv:UnspecifiedMatching -DOID:0110636 congenital merosin-deficient muscular dystrophy 1A oboInOwl:hasDbXref OMIM:607855 semapv:UnspecifiedMatching DOID:0110636 congenital merosin-deficient muscular dystrophy 1A oboInOwl:hasDbXref ORDO:258 semapv:UnspecifiedMatching DOID:0110636 congenital merosin-deficient muscular dystrophy 1A oboInOwl:hasDbXref UMLS:C1263858 semapv:UnspecifiedMatching -DOID:0110636 congenital merosin-deficient muscular dystrophy 1A skos:exactMatch OMIM:607855 semapv:UnspecifiedMatching DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 oboInOwl:hasDbXref ICD10CM:G71.2 semapv:UnspecifiedMatching -DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 oboInOwl:hasDbXref OMIM:608840 semapv:UnspecifiedMatching DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 oboInOwl:hasDbXref ORDO:98894 semapv:UnspecifiedMatching -DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 skos:exactMatch OMIM:608840 semapv:UnspecifiedMatching DOID:0110639 congenital muscular dystrophy due to integrin alpha-7 deficiency oboInOwl:hasDbXref ICD10CM:G71.2 semapv:UnspecifiedMatching -DOID:0110639 congenital muscular dystrophy due to integrin alpha-7 deficiency oboInOwl:hasDbXref OMIM:613204 semapv:UnspecifiedMatching DOID:0110639 congenital muscular dystrophy due to integrin alpha-7 deficiency oboInOwl:hasDbXref ORDO:34520 semapv:UnspecifiedMatching -DOID:0110639 congenital muscular dystrophy due to integrin alpha-7 deficiency skos:exactMatch OMIM:613204 semapv:UnspecifiedMatching DOID:0110640 congenital muscular dystrophy due to LMNA mutation oboInOwl:hasDbXref ICD10CM:G71.2 semapv:UnspecifiedMatching -DOID:0110640 congenital muscular dystrophy due to LMNA mutation oboInOwl:hasDbXref OMIM:613205 semapv:UnspecifiedMatching DOID:0110640 congenital muscular dystrophy due to LMNA mutation oboInOwl:hasDbXref ORDO:157973 semapv:UnspecifiedMatching -DOID:0110640 congenital muscular dystrophy due to LMNA mutation skos:exactMatch OMIM:613205 semapv:UnspecifiedMatching DOID:0110644 long QT syndrome 1 oboInOwl:hasDbXref GARD:3284 semapv:UnspecifiedMatching DOID:0110644 long QT syndrome 1 oboInOwl:hasDbXref ICD10CM:I45.8 semapv:UnspecifiedMatching -DOID:0110644 long QT syndrome 1 oboInOwl:hasDbXref OMIM:192500 semapv:UnspecifiedMatching -DOID:0110644 long QT syndrome 1 skos:exactMatch OMIM:192500 semapv:UnspecifiedMatching DOID:0110645 long QT syndrome 2 oboInOwl:hasDbXref GARD:3285 semapv:UnspecifiedMatching DOID:0110645 long QT syndrome 2 oboInOwl:hasDbXref ICD10CM:I45.8 semapv:UnspecifiedMatching DOID:0110645 long QT syndrome 2 oboInOwl:hasDbXref MESH:C563614 semapv:UnspecifiedMatching -DOID:0110645 long QT syndrome 2 oboInOwl:hasDbXref OMIM:613688 semapv:UnspecifiedMatching -DOID:0110645 long QT syndrome 2 skos:exactMatch OMIM:613688 semapv:UnspecifiedMatching DOID:0110646 long QT syndrome 3 oboInOwl:hasDbXref GARD:3286 semapv:UnspecifiedMatching DOID:0110646 long QT syndrome 3 oboInOwl:hasDbXref ICD10CM:I45.8 semapv:UnspecifiedMatching DOID:0110646 long QT syndrome 3 oboInOwl:hasDbXref MESH:C565840 semapv:UnspecifiedMatching -DOID:0110646 long QT syndrome 3 oboInOwl:hasDbXref OMIM:603830 semapv:UnspecifiedMatching -DOID:0110646 long QT syndrome 3 skos:exactMatch OMIM:603830 semapv:UnspecifiedMatching DOID:0110647 long QT syndrome 5 oboInOwl:hasDbXref GARD:10433 semapv:UnspecifiedMatching DOID:0110647 long QT syndrome 5 oboInOwl:hasDbXref ICD10CM:I45.8 semapv:UnspecifiedMatching DOID:0110647 long QT syndrome 5 oboInOwl:hasDbXref MESH:C566766 semapv:UnspecifiedMatching -DOID:0110647 long QT syndrome 5 oboInOwl:hasDbXref OMIM:613695 semapv:UnspecifiedMatching -DOID:0110647 long QT syndrome 5 skos:exactMatch OMIM:613695 semapv:UnspecifiedMatching DOID:0110648 long QT syndrome 6 oboInOwl:hasDbXref GARD:10434 semapv:UnspecifiedMatching DOID:0110648 long QT syndrome 6 oboInOwl:hasDbXref ICD10CM:I45.8 semapv:UnspecifiedMatching DOID:0110648 long QT syndrome 6 oboInOwl:hasDbXref MESH:C566333 semapv:UnspecifiedMatching -DOID:0110648 long QT syndrome 6 oboInOwl:hasDbXref OMIM:613693 semapv:UnspecifiedMatching -DOID:0110648 long QT syndrome 6 skos:exactMatch OMIM:613693 semapv:UnspecifiedMatching -DOID:0110649 long QT syndrome 8 oboInOwl:hasDbXref OMIM:618447 semapv:UnspecifiedMatching -DOID:0110649 long QT syndrome 8 skos:exactMatch OMIM:618447 semapv:UnspecifiedMatching -DOID:0110649 long QT syndrome 8 skos:exactMatch OMIM:618447 semapv:UnspecifiedMatching DOID:0110650 long QT syndrome 9 oboInOwl:hasDbXref GARD:10435 semapv:UnspecifiedMatching DOID:0110650 long QT syndrome 9 oboInOwl:hasDbXref ICD10CM:I45.8 semapv:UnspecifiedMatching DOID:0110650 long QT syndrome 9 oboInOwl:hasDbXref MESH:C567515 semapv:UnspecifiedMatching -DOID:0110650 long QT syndrome 9 oboInOwl:hasDbXref OMIM:611818 semapv:UnspecifiedMatching -DOID:0110650 long QT syndrome 9 skos:exactMatch OMIM:611818 semapv:UnspecifiedMatching DOID:0110651 long QT syndrome 10 oboInOwl:hasDbXref GARD:10436 semapv:UnspecifiedMatching DOID:0110651 long QT syndrome 10 oboInOwl:hasDbXref ICD10CM:I45.8 semapv:UnspecifiedMatching DOID:0110651 long QT syndrome 10 oboInOwl:hasDbXref MESH:C567514 semapv:UnspecifiedMatching -DOID:0110651 long QT syndrome 10 oboInOwl:hasDbXref OMIM:611819 semapv:UnspecifiedMatching -DOID:0110651 long QT syndrome 10 skos:exactMatch OMIM:611819 semapv:UnspecifiedMatching DOID:0110652 long QT syndrome 11 oboInOwl:hasDbXref GARD:10437 semapv:UnspecifiedMatching DOID:0110652 long QT syndrome 11 oboInOwl:hasDbXref ICD10CM:I45.8 semapv:UnspecifiedMatching DOID:0110652 long QT syndrome 11 oboInOwl:hasDbXref MESH:C567513 semapv:UnspecifiedMatching -DOID:0110652 long QT syndrome 11 oboInOwl:hasDbXref OMIM:611820 semapv:UnspecifiedMatching -DOID:0110652 long QT syndrome 11 skos:exactMatch OMIM:611820 semapv:UnspecifiedMatching DOID:0110653 long QT syndrome 12 oboInOwl:hasDbXref ICD10CM:I45.8 semapv:UnspecifiedMatching DOID:0110653 long QT syndrome 12 oboInOwl:hasDbXref MESH:C567842 semapv:UnspecifiedMatching -DOID:0110653 long QT syndrome 12 oboInOwl:hasDbXref OMIM:612955 semapv:UnspecifiedMatching -DOID:0110653 long QT syndrome 12 skos:exactMatch OMIM:612955 semapv:UnspecifiedMatching DOID:0110654 long QT syndrome 13 oboInOwl:hasDbXref ICD10CM:I45.8 semapv:UnspecifiedMatching -DOID:0110654 long QT syndrome 13 oboInOwl:hasDbXref OMIM:613485 semapv:UnspecifiedMatching -DOID:0110654 long QT syndrome 13 skos:exactMatch OMIM:613485 semapv:UnspecifiedMatching DOID:0110655 long QT syndrome 14 oboInOwl:hasDbXref ICD10CM:I45.8 semapv:UnspecifiedMatching -DOID:0110655 long QT syndrome 14 oboInOwl:hasDbXref OMIM:616247 semapv:UnspecifiedMatching -DOID:0110655 long QT syndrome 14 skos:exactMatch OMIM:616247 semapv:UnspecifiedMatching DOID:0110656 long QT syndrome 15 oboInOwl:hasDbXref ICD10CM:I45.8 semapv:UnspecifiedMatching -DOID:0110656 long QT syndrome 15 oboInOwl:hasDbXref OMIM:616249 semapv:UnspecifiedMatching -DOID:0110656 long QT syndrome 15 skos:exactMatch OMIM:616249 semapv:UnspecifiedMatching -DOID:0110657 congenital myasthenic syndrome 8 oboInOwl:hasDbXref OMIM:615120 semapv:UnspecifiedMatching -DOID:0110657 congenital myasthenic syndrome 8 skos:exactMatch OMIM:615120 semapv:UnspecifiedMatching -DOID:0110658 congenital myasthenic syndrome 15 oboInOwl:hasDbXref OMIM:616227 semapv:UnspecifiedMatching -DOID:0110658 congenital myasthenic syndrome 15 skos:exactMatch OMIM:616227 semapv:UnspecifiedMatching -DOID:0110659 congenital myasthenic syndrome 7 oboInOwl:hasDbXref OMIM:616040 semapv:UnspecifiedMatching -DOID:0110659 congenital myasthenic syndrome 7 skos:exactMatch OMIM:616040 semapv:UnspecifiedMatching -DOID:0110660 congenital myasthenic syndrome 12 oboInOwl:hasDbXref OMIM:610542 semapv:UnspecifiedMatching -DOID:0110660 congenital myasthenic syndrome 12 skos:exactMatch OMIM:610542 semapv:UnspecifiedMatching -DOID:0110661 congenital myasthenic syndrome 20 oboInOwl:hasDbXref OMIM:617143 semapv:UnspecifiedMatching -DOID:0110661 congenital myasthenic syndrome 20 skos:exactMatch OMIM:617143 semapv:UnspecifiedMatching -DOID:0110662 congenital myasthenic syndrome 1B oboInOwl:hasDbXref OMIM:608930 semapv:UnspecifiedMatching -DOID:0110662 congenital myasthenic syndrome 1B skos:exactMatch OMIM:608930 semapv:UnspecifiedMatching -DOID:0110663 congenital myasthenic syndrome 1A oboInOwl:hasDbXref OMIM:601462 semapv:UnspecifiedMatching -DOID:0110663 congenital myasthenic syndrome 1A skos:exactMatch OMIM:601462 semapv:UnspecifiedMatching -DOID:0110664 congenital myasthenic syndrome 3C oboInOwl:hasDbXref OMIM:616323 semapv:UnspecifiedMatching -DOID:0110664 congenital myasthenic syndrome 3C skos:exactMatch OMIM:616323 semapv:UnspecifiedMatching -DOID:0110665 congenital myasthenic syndrome 3B oboInOwl:hasDbXref OMIM:616322 semapv:UnspecifiedMatching -DOID:0110665 congenital myasthenic syndrome 3B skos:exactMatch OMIM:616322 semapv:UnspecifiedMatching -DOID:0110666 congenital myasthenic syndrome 3A oboInOwl:hasDbXref OMIM:616321 semapv:UnspecifiedMatching -DOID:0110666 congenital myasthenic syndrome 3A skos:exactMatch OMIM:616321 semapv:UnspecifiedMatching -DOID:0110667 congenital myasthenic syndrome 5 oboInOwl:hasDbXref OMIM:603034 semapv:UnspecifiedMatching -DOID:0110667 congenital myasthenic syndrome 5 skos:exactMatch OMIM:603034 semapv:UnspecifiedMatching -DOID:0110668 congenital myasthenic syndrome 10 oboInOwl:hasDbXref OMIM:254300 semapv:UnspecifiedMatching -DOID:0110668 congenital myasthenic syndrome 10 skos:exactMatch OMIM:254300 semapv:UnspecifiedMatching -DOID:0110669 congenital myasthenic syndrome 14 oboInOwl:hasDbXref OMIM:616228 semapv:UnspecifiedMatching -DOID:0110669 congenital myasthenic syndrome 14 skos:exactMatch OMIM:616228 semapv:UnspecifiedMatching -DOID:0110670 congenital myasthenic syndrome 9 oboInOwl:hasDbXref OMIM:616325 semapv:UnspecifiedMatching -DOID:0110670 congenital myasthenic syndrome 9 skos:exactMatch OMIM:616325 semapv:UnspecifiedMatching -DOID:0110671 congenital myasthenic syndrome 6 oboInOwl:hasDbXref OMIM:254210 semapv:UnspecifiedMatching -DOID:0110671 congenital myasthenic syndrome 6 skos:exactMatch OMIM:254210 semapv:UnspecifiedMatching -DOID:0110672 congenital myasthenic syndrome 21 oboInOwl:hasDbXref OMIM:617239 semapv:UnspecifiedMatching -DOID:0110672 congenital myasthenic syndrome 21 skos:exactMatch OMIM:617239 semapv:UnspecifiedMatching -DOID:0110673 congenital myasthenic syndrome 19 oboInOwl:hasDbXref OMIM:616720 semapv:UnspecifiedMatching -DOID:0110673 congenital myasthenic syndrome 19 skos:exactMatch OMIM:616720 semapv:UnspecifiedMatching -DOID:0110674 congenital myasthenic syndrome 17 oboInOwl:hasDbXref OMIM:616304 semapv:UnspecifiedMatching -DOID:0110674 congenital myasthenic syndrome 17 skos:exactMatch OMIM:616304 semapv:UnspecifiedMatching -DOID:0110675 congenital myasthenic syndrome 11 oboInOwl:hasDbXref OMIM:616326 semapv:UnspecifiedMatching -DOID:0110675 congenital myasthenic syndrome 11 skos:exactMatch OMIM:616326 semapv:UnspecifiedMatching -DOID:0110676 congenital myasthenic syndrome 13 oboInOwl:hasDbXref OMIM:614750 semapv:UnspecifiedMatching -DOID:0110676 congenital myasthenic syndrome 13 skos:exactMatch OMIM:614750 semapv:UnspecifiedMatching -DOID:0110677 congenital myasthenic syndrome 4B oboInOwl:hasDbXref OMIM:616324 semapv:UnspecifiedMatching -DOID:0110677 congenital myasthenic syndrome 4B skos:exactMatch OMIM:616324 semapv:UnspecifiedMatching -DOID:0110678 congenital myasthenic syndrome 4A oboInOwl:hasDbXref OMIM:605809 semapv:UnspecifiedMatching -DOID:0110678 congenital myasthenic syndrome 4A skos:exactMatch OMIM:605809 semapv:UnspecifiedMatching -DOID:0110679 congenital myasthenic syndrome 4C oboInOwl:hasDbXref OMIM:608931 semapv:UnspecifiedMatching -DOID:0110679 congenital myasthenic syndrome 4C skos:exactMatch OMIM:608931 semapv:UnspecifiedMatching -DOID:0110680 congenital myasthenic syndrome 2C oboInOwl:hasDbXref OMIM:616314 semapv:UnspecifiedMatching -DOID:0110680 congenital myasthenic syndrome 2C skos:exactMatch OMIM:616314 semapv:UnspecifiedMatching -DOID:0110681 congenital myasthenic syndrome 2A oboInOwl:hasDbXref OMIM:616313 semapv:UnspecifiedMatching -DOID:0110681 congenital myasthenic syndrome 2A skos:exactMatch OMIM:616313 semapv:UnspecifiedMatching -DOID:0110682 congenital myasthenic syndrome 16 oboInOwl:hasDbXref OMIM:614198 semapv:UnspecifiedMatching -DOID:0110682 congenital myasthenic syndrome 16 skos:exactMatch OMIM:614198 semapv:UnspecifiedMatching -DOID:0110683 congenital myasthenic syndrome 18 oboInOwl:hasDbXref OMIM:616330 semapv:UnspecifiedMatching -DOID:0110683 congenital myasthenic syndrome 18 skos:exactMatch OMIM:616330 semapv:UnspecifiedMatching -DOID:0110698 hypotrichosis 1 oboInOwl:hasDbXref OMIM:605389 semapv:UnspecifiedMatching -DOID:0110698 hypotrichosis 1 skos:exactMatch OMIM:605389 semapv:UnspecifiedMatching -DOID:0110699 hypotrichosis 2 oboInOwl:hasDbXref OMIM:146520 semapv:UnspecifiedMatching -DOID:0110699 hypotrichosis 2 skos:exactMatch OMIM:146520 semapv:UnspecifiedMatching -DOID:0110700 hypotrichosis 3 oboInOwl:hasDbXref OMIM:613981 semapv:UnspecifiedMatching -DOID:0110700 hypotrichosis 3 skos:exactMatch OMIM:613981 semapv:UnspecifiedMatching -DOID:0110701 hypotrichosis 4 oboInOwl:hasDbXref OMIM:146550 semapv:UnspecifiedMatching -DOID:0110701 hypotrichosis 4 skos:exactMatch OMIM:146550 semapv:UnspecifiedMatching DOID:0110702 hypotrichosis 5 oboInOwl:hasDbXref MESH:C567554 semapv:UnspecifiedMatching -DOID:0110702 hypotrichosis 5 oboInOwl:hasDbXref OMIM:612841 semapv:UnspecifiedMatching -DOID:0110702 hypotrichosis 5 skos:exactMatch OMIM:612841 semapv:UnspecifiedMatching -DOID:0110703 hypotrichosis 6 oboInOwl:hasDbXref OMIM:607903 semapv:UnspecifiedMatching -DOID:0110703 hypotrichosis 6 skos:exactMatch OMIM:607903 semapv:UnspecifiedMatching -DOID:0110704 hypotrichosis 7 oboInOwl:hasDbXref OMIM:604379 semapv:UnspecifiedMatching -DOID:0110704 hypotrichosis 7 skos:exactMatch OMIM:604379 semapv:UnspecifiedMatching -DOID:0110705 hypotrichosis 8 oboInOwl:hasDbXref OMIM:278150 semapv:UnspecifiedMatching -DOID:0110705 hypotrichosis 8 skos:exactMatch OMIM:278150 semapv:UnspecifiedMatching -DOID:0110706 hypotrichosis 9 oboInOwl:hasDbXref OMIM:614237 semapv:UnspecifiedMatching -DOID:0110706 hypotrichosis 9 skos:exactMatch OMIM:614237 semapv:UnspecifiedMatching -DOID:0110707 hypotrichosis 10 oboInOwl:hasDbXref OMIM:614238 semapv:UnspecifiedMatching -DOID:0110707 hypotrichosis 10 skos:exactMatch OMIM:614238 semapv:UnspecifiedMatching -DOID:0110708 hypotrichosis 11 oboInOwl:hasDbXref OMIM:615059 semapv:UnspecifiedMatching -DOID:0110708 hypotrichosis 11 skos:exactMatch OMIM:615059 semapv:UnspecifiedMatching -DOID:0110709 hypotrichosis 12 oboInOwl:hasDbXref OMIM:615885 semapv:UnspecifiedMatching -DOID:0110709 hypotrichosis 12 skos:exactMatch OMIM:615885 semapv:UnspecifiedMatching -DOID:0110710 hypotrichosis 13 oboInOwl:hasDbXref OMIM:615896 semapv:UnspecifiedMatching -DOID:0110710 hypotrichosis 13 skos:exactMatch OMIM:615896 semapv:UnspecifiedMatching DOID:0110711 congenital hypotrichosis with juvenile macular dystrophy oboInOwl:hasDbXref GARD:3066 semapv:UnspecifiedMatching -DOID:0110711 congenital hypotrichosis with juvenile macular dystrophy oboInOwl:hasDbXref OMIM:601553 semapv:UnspecifiedMatching -DOID:0110711 congenital hypotrichosis with juvenile macular dystrophy skos:exactMatch OMIM:601553 semapv:UnspecifiedMatching -DOID:0110712 Oguchi disease-1 oboInOwl:hasDbXref OMIM:258100 semapv:UnspecifiedMatching -DOID:0110712 Oguchi disease-1 skos:exactMatch OMIM:258100 semapv:UnspecifiedMatching -DOID:0110713 Oguchi disease-2 oboInOwl:hasDbXref OMIM:613411 semapv:UnspecifiedMatching -DOID:0110713 Oguchi disease-2 skos:exactMatch OMIM:613411 semapv:UnspecifiedMatching -DOID:0110714 congenital stationary night blindness 1G oboInOwl:hasDbXref OMIM:616389 semapv:UnspecifiedMatching -DOID:0110714 congenital stationary night blindness 1G skos:exactMatch OMIM:616389 semapv:UnspecifiedMatching -DOID:0110715 congenital stationary night blindness autosomal dominant 3 oboInOwl:hasDbXref OMIM:610444 semapv:UnspecifiedMatching -DOID:0110715 congenital stationary night blindness autosomal dominant 3 skos:exactMatch OMIM:610444 semapv:UnspecifiedMatching DOID:0110716 Warburg micro syndrome 1 oboInOwl:hasDbXref ICD10CM:Q87.0 semapv:UnspecifiedMatching -DOID:0110716 Warburg micro syndrome 1 oboInOwl:hasDbXref OMIM:600118 semapv:UnspecifiedMatching -DOID:0110716 Warburg micro syndrome 1 skos:exactMatch OMIM:600118 semapv:UnspecifiedMatching DOID:0110717 Warburg micro syndrome 2 oboInOwl:hasDbXref ICD10CM:Q87.0 semapv:UnspecifiedMatching -DOID:0110717 Warburg micro syndrome 2 oboInOwl:hasDbXref OMIM:614225 semapv:UnspecifiedMatching -DOID:0110717 Warburg micro syndrome 2 skos:exactMatch OMIM:614225 semapv:UnspecifiedMatching DOID:0110718 Warburg micro syndrome 3 oboInOwl:hasDbXref ICD10CM:Q87.0 semapv:UnspecifiedMatching -DOID:0110718 Warburg micro syndrome 3 oboInOwl:hasDbXref OMIM:614222 semapv:UnspecifiedMatching -DOID:0110718 Warburg micro syndrome 3 skos:exactMatch OMIM:614222 semapv:UnspecifiedMatching DOID:0110719 Warburg micro syndrome 4 oboInOwl:hasDbXref ICD10CM:Q87.0 semapv:UnspecifiedMatching -DOID:0110719 Warburg micro syndrome 4 oboInOwl:hasDbXref OMIM:615663 semapv:UnspecifiedMatching -DOID:0110719 Warburg micro syndrome 4 skos:exactMatch OMIM:615663 semapv:UnspecifiedMatching DOID:0110720 neuronal ceroid lipofuscinosis 4 oboInOwl:hasDbXref ICD10CM:E75.4 semapv:UnspecifiedMatching -DOID:0110720 neuronal ceroid lipofuscinosis 4 oboInOwl:hasDbXref OMIM:162350 semapv:UnspecifiedMatching DOID:0110720 neuronal ceroid lipofuscinosis 4 oboInOwl:hasDbXref ORDO:228343 semapv:UnspecifiedMatching -DOID:0110720 neuronal ceroid lipofuscinosis 4 skos:exactMatch OMIM:162350 semapv:UnspecifiedMatching DOID:0110721 neuronal ceroid lipofuscinosis 1 oboInOwl:hasDbXref GARD:1219 semapv:UnspecifiedMatching DOID:0110721 neuronal ceroid lipofuscinosis 1 oboInOwl:hasDbXref ICD10CM:E75.4 semapv:UnspecifiedMatching -DOID:0110721 neuronal ceroid lipofuscinosis 1 oboInOwl:hasDbXref OMIM:256730 semapv:UnspecifiedMatching DOID:0110721 neuronal ceroid lipofuscinosis 1 oboInOwl:hasDbXref ORDO:228329 semapv:UnspecifiedMatching -DOID:0110721 neuronal ceroid lipofuscinosis 1 skos:exactMatch OMIM:256730 semapv:UnspecifiedMatching DOID:0110722 neuronal ceroid lipofuscinosis 7 oboInOwl:hasDbXref GARD:1220 semapv:UnspecifiedMatching DOID:0110722 neuronal ceroid lipofuscinosis 7 oboInOwl:hasDbXref ICD10CM:E75.4 semapv:UnspecifiedMatching -DOID:0110722 neuronal ceroid lipofuscinosis 7 oboInOwl:hasDbXref OMIM:610951 semapv:UnspecifiedMatching DOID:0110722 neuronal ceroid lipofuscinosis 7 oboInOwl:hasDbXref ORDO:228366 semapv:UnspecifiedMatching -DOID:0110722 neuronal ceroid lipofuscinosis 7 skos:exactMatch OMIM:610951 semapv:UnspecifiedMatching DOID:0110723 neuronal ceroid lipofuscinosis 8 oboInOwl:hasDbXref ICD10CM:E75.4 semapv:UnspecifiedMatching -DOID:0110723 neuronal ceroid lipofuscinosis 8 oboInOwl:hasDbXref OMIM:600143 semapv:UnspecifiedMatching DOID:0110723 neuronal ceroid lipofuscinosis 8 oboInOwl:hasDbXref ORDO:228354 semapv:UnspecifiedMatching -DOID:0110723 neuronal ceroid lipofuscinosis 8 skos:exactMatch OMIM:600143 semapv:UnspecifiedMatching DOID:0110724 neuronal ceroid lipofuscinosis 8 northern epilepsy variant oboInOwl:hasDbXref GARD:2163 semapv:UnspecifiedMatching DOID:0110724 neuronal ceroid lipofuscinosis 8 northern epilepsy variant oboInOwl:hasDbXref GARD:4010 semapv:UnspecifiedMatching DOID:0110724 neuronal ceroid lipofuscinosis 8 northern epilepsy variant oboInOwl:hasDbXref ICD10CM:E75.4 semapv:UnspecifiedMatching -DOID:0110724 neuronal ceroid lipofuscinosis 8 northern epilepsy variant oboInOwl:hasDbXref OMIM:610003 semapv:UnspecifiedMatching DOID:0110724 neuronal ceroid lipofuscinosis 8 northern epilepsy variant oboInOwl:hasDbXref ORDO:1947 semapv:UnspecifiedMatching -DOID:0110724 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:exactMatch OMIM:610003 semapv:UnspecifiedMatching DOID:0110725 neuronal ceroid lipofuscinosis 10 oboInOwl:hasDbXref GARD:1218 semapv:UnspecifiedMatching DOID:0110725 neuronal ceroid lipofuscinosis 10 oboInOwl:hasDbXref ICD10CM:E75.4 semapv:UnspecifiedMatching -DOID:0110725 neuronal ceroid lipofuscinosis 10 oboInOwl:hasDbXref OMIM:610127 semapv:UnspecifiedMatching DOID:0110725 neuronal ceroid lipofuscinosis 10 oboInOwl:hasDbXref ORDO:228337 semapv:UnspecifiedMatching -DOID:0110725 neuronal ceroid lipofuscinosis 10 skos:exactMatch OMIM:610127 semapv:UnspecifiedMatching DOID:0110726 neuronal ceroid lipofuscinosis 2 oboInOwl:hasDbXref GARD:3045 semapv:UnspecifiedMatching DOID:0110726 neuronal ceroid lipofuscinosis 2 oboInOwl:hasDbXref ICD10CM:E75.4 semapv:UnspecifiedMatching -DOID:0110726 neuronal ceroid lipofuscinosis 2 oboInOwl:hasDbXref OMIM:204500 semapv:UnspecifiedMatching DOID:0110726 neuronal ceroid lipofuscinosis 2 oboInOwl:hasDbXref ORDO:228349 semapv:UnspecifiedMatching -DOID:0110726 neuronal ceroid lipofuscinosis 2 skos:exactMatch OMIM:204500 semapv:UnspecifiedMatching DOID:0110727 neuronal ceroid lipofuscinosis 13 oboInOwl:hasDbXref ICD10CM:E75.4 semapv:UnspecifiedMatching -DOID:0110727 neuronal ceroid lipofuscinosis 13 oboInOwl:hasDbXref OMIM:615362 semapv:UnspecifiedMatching DOID:0110727 neuronal ceroid lipofuscinosis 13 oboInOwl:hasDbXref ORDO:352709 semapv:UnspecifiedMatching -DOID:0110727 neuronal ceroid lipofuscinosis 13 skos:exactMatch OMIM:615362 semapv:UnspecifiedMatching DOID:0110728 neuronal ceroid lipofuscinosis 5 oboInOwl:hasDbXref GARD:1223 semapv:UnspecifiedMatching DOID:0110728 neuronal ceroid lipofuscinosis 5 oboInOwl:hasDbXref ICD10CM:E75.4 semapv:UnspecifiedMatching -DOID:0110728 neuronal ceroid lipofuscinosis 5 oboInOwl:hasDbXref OMIM:256731 semapv:UnspecifiedMatching DOID:0110728 neuronal ceroid lipofuscinosis 5 oboInOwl:hasDbXref ORDO:228360 semapv:UnspecifiedMatching -DOID:0110728 neuronal ceroid lipofuscinosis 5 skos:exactMatch OMIM:256731 semapv:UnspecifiedMatching DOID:0110729 neuronal ceroid lipofuscinosis 6A oboInOwl:hasDbXref GARD:1224 semapv:UnspecifiedMatching DOID:0110729 neuronal ceroid lipofuscinosis 6A oboInOwl:hasDbXref ICD10CM:E75.4 semapv:UnspecifiedMatching -DOID:0110729 neuronal ceroid lipofuscinosis 6A oboInOwl:hasDbXref OMIM:601780 semapv:UnspecifiedMatching DOID:0110729 neuronal ceroid lipofuscinosis 6A oboInOwl:hasDbXref ORDO:228363 semapv:UnspecifiedMatching -DOID:0110729 neuronal ceroid lipofuscinosis 6A skos:exactMatch OMIM:601780 semapv:UnspecifiedMatching DOID:0110730 neuronal ceroid lipofuscinosis 6B oboInOwl:hasDbXref ICD10CM:E75.4 semapv:UnspecifiedMatching -DOID:0110730 neuronal ceroid lipofuscinosis 6B oboInOwl:hasDbXref OMIM:204300 semapv:UnspecifiedMatching DOID:0110730 neuronal ceroid lipofuscinosis 6B oboInOwl:hasDbXref ORDO:228340 semapv:UnspecifiedMatching -DOID:0110730 neuronal ceroid lipofuscinosis 6B skos:exactMatch OMIM:204300 semapv:UnspecifiedMatching DOID:0110731 neuronal ceroid lipofuscinosis 3 oboInOwl:hasDbXref GARD:5897 semapv:UnspecifiedMatching DOID:0110731 neuronal ceroid lipofuscinosis 3 oboInOwl:hasDbXref ICD10CM:E75.4 semapv:UnspecifiedMatching -DOID:0110731 neuronal ceroid lipofuscinosis 3 oboInOwl:hasDbXref OMIM:204200 semapv:UnspecifiedMatching DOID:0110731 neuronal ceroid lipofuscinosis 3 oboInOwl:hasDbXref ORDO:228346 semapv:UnspecifiedMatching -DOID:0110731 neuronal ceroid lipofuscinosis 3 skos:exactMatch OMIM:204200 semapv:UnspecifiedMatching DOID:0110732 neuronal ceroid lipofuscinosis 11 oboInOwl:hasDbXref ICD10CM:E75.4 semapv:UnspecifiedMatching -DOID:0110732 neuronal ceroid lipofuscinosis 11 oboInOwl:hasDbXref OMIM:614706 semapv:UnspecifiedMatching DOID:0110732 neuronal ceroid lipofuscinosis 11 oboInOwl:hasDbXref ORDO:314629 semapv:UnspecifiedMatching -DOID:0110732 neuronal ceroid lipofuscinosis 11 skos:exactMatch OMIM:614706 semapv:UnspecifiedMatching DOID:0110733 neuronal ceroid lipofuscinosis 9 oboInOwl:hasDbXref GARD:6618 semapv:UnspecifiedMatching DOID:0110733 neuronal ceroid lipofuscinosis 9 oboInOwl:hasDbXref ICD10CM:E75.4 semapv:UnspecifiedMatching -DOID:0110733 neuronal ceroid lipofuscinosis 9 oboInOwl:hasDbXref OMIM:609055 semapv:UnspecifiedMatching DOID:0110733 neuronal ceroid lipofuscinosis 9 oboInOwl:hasDbXref ORDO:228357 semapv:UnspecifiedMatching -DOID:0110733 neuronal ceroid lipofuscinosis 9 skos:exactMatch OMIM:609055 semapv:UnspecifiedMatching DOID:0110734 neurodegeneration with brain iron accumulation oboInOwl:hasDbXref GARD:11899 semapv:UnspecifiedMatching DOID:0110734 neurodegeneration with brain iron accumulation oboInOwl:hasDbXref MESH:C538421 semapv:UnspecifiedMatching -DOID:0110734 neurodegeneration with brain iron accumulation oboInOwl:hasDbXref OMIMPS:234200 semapv:UnspecifiedMatching DOID:0110734 neurodegeneration with brain iron accumulation oboInOwl:hasDbXref ORDO:385 semapv:UnspecifiedMatching DOID:0110734 neurodegeneration with brain iron accumulation oboInOwl:hasDbXref UMLS:C2931845 semapv:UnspecifiedMatching -DOID:0110734 neurodegeneration with brain iron accumulation skos:exactMatch OMIMPS:234200 semapv:UnspecifiedMatching DOID:0110735 neurodegeneration with brain iron accumulation 2a oboInOwl:hasDbXref GARD:2751 semapv:UnspecifiedMatching DOID:0110735 neurodegeneration with brain iron accumulation 2a oboInOwl:hasDbXref ICD10CM:G23.0 semapv:UnspecifiedMatching -DOID:0110735 neurodegeneration with brain iron accumulation 2a oboInOwl:hasDbXref OMIM:256600 semapv:UnspecifiedMatching -DOID:0110735 neurodegeneration with brain iron accumulation 2a skos:exactMatch OMIM:256600 semapv:UnspecifiedMatching DOID:0110736 neurodegeneration with brain iron accumulation 2b oboInOwl:hasDbXref ICD10CM:G23.0 semapv:UnspecifiedMatching -DOID:0110736 neurodegeneration with brain iron accumulation 2b oboInOwl:hasDbXref OMIM:610217 semapv:UnspecifiedMatching -DOID:0110736 neurodegeneration with brain iron accumulation 2b skos:exactMatch OMIM:610217 semapv:UnspecifiedMatching DOID:0110737 neurodegeneration with brain iron accumulation 3 oboInOwl:hasDbXref MESH:C548080 semapv:UnspecifiedMatching -DOID:0110737 neurodegeneration with brain iron accumulation 3 oboInOwl:hasDbXref OMIM:606159 semapv:UnspecifiedMatching DOID:0110737 neurodegeneration with brain iron accumulation 3 oboInOwl:hasDbXref ORDO:157846 semapv:UnspecifiedMatching DOID:0110737 neurodegeneration with brain iron accumulation 3 oboInOwl:hasDbXref UMLS:C1853578 semapv:UnspecifiedMatching -DOID:0110737 neurodegeneration with brain iron accumulation 3 skos:exactMatch OMIM:606159 semapv:UnspecifiedMatching DOID:0110738 neurodegeneration with brain iron accumulation 4 oboInOwl:hasDbXref ICD10CM:G23.0 semapv:UnspecifiedMatching -DOID:0110738 neurodegeneration with brain iron accumulation 4 oboInOwl:hasDbXref OMIM:614298 semapv:UnspecifiedMatching DOID:0110738 neurodegeneration with brain iron accumulation 4 oboInOwl:hasDbXref ORDO:289560 semapv:UnspecifiedMatching -DOID:0110738 neurodegeneration with brain iron accumulation 4 skos:exactMatch OMIM:614298 semapv:UnspecifiedMatching DOID:0110739 neurodegeneration with brain iron accumulation 5 oboInOwl:hasDbXref ICD10CM:G23.0 semapv:UnspecifiedMatching -DOID:0110739 neurodegeneration with brain iron accumulation 5 oboInOwl:hasDbXref OMIM:300894 semapv:UnspecifiedMatching DOID:0110739 neurodegeneration with brain iron accumulation 5 oboInOwl:hasDbXref ORDO:329284 semapv:UnspecifiedMatching -DOID:0110739 neurodegeneration with brain iron accumulation 5 skos:exactMatch OMIM:300894 semapv:UnspecifiedMatching DOID:0110740 neurodegeneration with brain iron accumulation 6 oboInOwl:hasDbXref ICD10CM:G23.0 semapv:UnspecifiedMatching -DOID:0110740 neurodegeneration with brain iron accumulation 6 oboInOwl:hasDbXref OMIM:615643 semapv:UnspecifiedMatching DOID:0110740 neurodegeneration with brain iron accumulation 6 oboInOwl:hasDbXref ORDO:397725 semapv:UnspecifiedMatching -DOID:0110740 neurodegeneration with brain iron accumulation 6 skos:exactMatch OMIM:615643 semapv:UnspecifiedMatching DOID:0110741 type 1 diabetes mellitus 2 oboInOwl:hasDbXref ICD10CM:E10 semapv:UnspecifiedMatching -DOID:0110741 type 1 diabetes mellitus 2 oboInOwl:hasDbXref OMIM:125852 semapv:UnspecifiedMatching -DOID:0110741 type 1 diabetes mellitus 2 skos:exactMatch OMIM:125852 semapv:UnspecifiedMatching DOID:0110742 type 1 diabetes mellitus 3 oboInOwl:hasDbXref ICD10CM:E10 semapv:UnspecifiedMatching -DOID:0110742 type 1 diabetes mellitus 3 oboInOwl:hasDbXref OMIM:600318 semapv:UnspecifiedMatching -DOID:0110742 type 1 diabetes mellitus 3 skos:exactMatch OMIM:600318 semapv:UnspecifiedMatching DOID:0110743 type 1 diabetes mellitus 4 oboInOwl:hasDbXref ICD10CM:E10 semapv:UnspecifiedMatching -DOID:0110743 type 1 diabetes mellitus 4 oboInOwl:hasDbXref OMIM:600319 semapv:UnspecifiedMatching -DOID:0110743 type 1 diabetes mellitus 4 skos:exactMatch OMIM:600319 semapv:UnspecifiedMatching DOID:0110744 type 1 diabetes mellitus 5 oboInOwl:hasDbXref ICD10CM:E10 semapv:UnspecifiedMatching -DOID:0110744 type 1 diabetes mellitus 5 oboInOwl:hasDbXref OMIM:600320 semapv:UnspecifiedMatching -DOID:0110744 type 1 diabetes mellitus 5 skos:exactMatch OMIM:600320 semapv:UnspecifiedMatching DOID:0110745 type 1 diabetes mellitus 6 oboInOwl:hasDbXref ICD10CM:E10 semapv:UnspecifiedMatching -DOID:0110745 type 1 diabetes mellitus 6 oboInOwl:hasDbXref OMIM:601941 semapv:UnspecifiedMatching -DOID:0110745 type 1 diabetes mellitus 6 skos:exactMatch OMIM:601941 semapv:UnspecifiedMatching DOID:0110746 type 1 diabetes mellitus 7 oboInOwl:hasDbXref ICD10CM:E10 semapv:UnspecifiedMatching -DOID:0110746 type 1 diabetes mellitus 7 oboInOwl:hasDbXref OMIM:600321 semapv:UnspecifiedMatching -DOID:0110746 type 1 diabetes mellitus 7 skos:exactMatch OMIM:600321 semapv:UnspecifiedMatching DOID:0110747 type 1 diabetes mellitus 8 oboInOwl:hasDbXref ICD10CM:E10 semapv:UnspecifiedMatching -DOID:0110747 type 1 diabetes mellitus 8 oboInOwl:hasDbXref OMIM:600883 semapv:UnspecifiedMatching -DOID:0110747 type 1 diabetes mellitus 8 skos:exactMatch OMIM:600883 semapv:UnspecifiedMatching DOID:0110748 obsolete type 1 diabetes mellitus 9 oboInOwl:hasDbXref ICD10CM:E10 semapv:UnspecifiedMatching DOID:0110749 type 1 diabetes mellitus 10 oboInOwl:hasDbXref ICD10CM:E10 semapv:UnspecifiedMatching -DOID:0110749 type 1 diabetes mellitus 10 oboInOwl:hasDbXref OMIM:601942 semapv:UnspecifiedMatching -DOID:0110749 type 1 diabetes mellitus 10 skos:exactMatch OMIM:601942 semapv:UnspecifiedMatching DOID:0110750 type 1 diabetes mellitus 11 oboInOwl:hasDbXref ICD10CM:E10 semapv:UnspecifiedMatching -DOID:0110750 type 1 diabetes mellitus 11 oboInOwl:hasDbXref OMIM:601208 semapv:UnspecifiedMatching -DOID:0110750 type 1 diabetes mellitus 11 skos:exactMatch OMIM:601208 semapv:UnspecifiedMatching DOID:0110751 type 1 diabetes mellitus 12 oboInOwl:hasDbXref ICD10CM:E10 semapv:UnspecifiedMatching -DOID:0110751 type 1 diabetes mellitus 12 oboInOwl:hasDbXref OMIM:601388 semapv:UnspecifiedMatching -DOID:0110751 type 1 diabetes mellitus 12 skos:exactMatch OMIM:601388 semapv:UnspecifiedMatching DOID:0110752 type 1 diabetes mellitus 13 oboInOwl:hasDbXref ICD10CM:E10 semapv:UnspecifiedMatching -DOID:0110752 type 1 diabetes mellitus 13 oboInOwl:hasDbXref OMIM:601318 semapv:UnspecifiedMatching -DOID:0110752 type 1 diabetes mellitus 13 skos:exactMatch OMIM:601318 semapv:UnspecifiedMatching DOID:0110753 type 1 diabetes mellitus 15 oboInOwl:hasDbXref ICD10CM:E10 semapv:UnspecifiedMatching -DOID:0110753 type 1 diabetes mellitus 15 oboInOwl:hasDbXref OMIM:601666 semapv:UnspecifiedMatching -DOID:0110753 type 1 diabetes mellitus 15 skos:exactMatch OMIM:601666 semapv:UnspecifiedMatching DOID:0110754 type 1 diabetes mellitus 17 oboInOwl:hasDbXref ICD10CM:E10 semapv:UnspecifiedMatching -DOID:0110754 type 1 diabetes mellitus 17 oboInOwl:hasDbXref OMIM:603266 semapv:UnspecifiedMatching -DOID:0110754 type 1 diabetes mellitus 17 skos:exactMatch OMIM:603266 semapv:UnspecifiedMatching DOID:0110755 type 1 diabetes mellitus 18 oboInOwl:hasDbXref ICD10CM:E10 semapv:UnspecifiedMatching -DOID:0110755 type 1 diabetes mellitus 18 oboInOwl:hasDbXref OMIM:605598 semapv:UnspecifiedMatching -DOID:0110755 type 1 diabetes mellitus 18 skos:exactMatch OMIM:605598 semapv:UnspecifiedMatching DOID:0110756 type 1 diabetes mellitus 19 oboInOwl:hasDbXref ICD10CM:E10 semapv:UnspecifiedMatching -DOID:0110756 type 1 diabetes mellitus 19 oboInOwl:hasDbXref OMIM:610155 semapv:UnspecifiedMatching -DOID:0110756 type 1 diabetes mellitus 19 skos:exactMatch OMIM:610155 semapv:UnspecifiedMatching DOID:0110757 type 1 diabetes mellitus 20 oboInOwl:hasDbXref ICD10CM:E10 semapv:UnspecifiedMatching -DOID:0110757 type 1 diabetes mellitus 20 oboInOwl:hasDbXref OMIM:612520 semapv:UnspecifiedMatching -DOID:0110757 type 1 diabetes mellitus 20 skos:exactMatch OMIM:612520 semapv:UnspecifiedMatching DOID:0110758 type 1 diabetes mellitus 21 oboInOwl:hasDbXref ICD10CM:E10 semapv:UnspecifiedMatching -DOID:0110758 type 1 diabetes mellitus 21 oboInOwl:hasDbXref OMIM:612521 semapv:UnspecifiedMatching -DOID:0110758 type 1 diabetes mellitus 21 skos:exactMatch OMIM:612521 semapv:UnspecifiedMatching DOID:0110759 type 1 diabetes mellitus 22 oboInOwl:hasDbXref ICD10CM:E10 semapv:UnspecifiedMatching -DOID:0110759 type 1 diabetes mellitus 22 oboInOwl:hasDbXref OMIM:612522 semapv:UnspecifiedMatching -DOID:0110759 type 1 diabetes mellitus 22 skos:exactMatch OMIM:612522 semapv:UnspecifiedMatching DOID:0110760 type 1 diabetes mellitus 23 oboInOwl:hasDbXref ICD10CM:E10 semapv:UnspecifiedMatching -DOID:0110760 type 1 diabetes mellitus 23 oboInOwl:hasDbXref OMIM:612622 semapv:UnspecifiedMatching -DOID:0110760 type 1 diabetes mellitus 23 skos:exactMatch OMIM:612622 semapv:UnspecifiedMatching DOID:0110761 type 1 diabetes mellitus 24 oboInOwl:hasDbXref ICD10CM:E10 semapv:UnspecifiedMatching -DOID:0110761 type 1 diabetes mellitus 24 oboInOwl:hasDbXref OMIM:613006 semapv:UnspecifiedMatching -DOID:0110761 type 1 diabetes mellitus 24 skos:exactMatch OMIM:613006 semapv:UnspecifiedMatching DOID:0110763 hereditary spastic paraplegia 10 oboInOwl:hasDbXref GARD:9590 semapv:UnspecifiedMatching DOID:0110763 hereditary spastic paraplegia 10 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110763 hereditary spastic paraplegia 10 oboInOwl:hasDbXref OMIM:604187 semapv:UnspecifiedMatching DOID:0110763 hereditary spastic paraplegia 10 oboInOwl:hasDbXref ORDO:100991 semapv:UnspecifiedMatching -DOID:0110763 hereditary spastic paraplegia 10 skos:exactMatch OMIM:604187 semapv:UnspecifiedMatching DOID:0110764 hereditary spastic paraplegia 11 oboInOwl:hasDbXref GARD:4919 semapv:UnspecifiedMatching DOID:0110764 hereditary spastic paraplegia 11 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110764 hereditary spastic paraplegia 11 oboInOwl:hasDbXref OMIM:604360 semapv:UnspecifiedMatching DOID:0110764 hereditary spastic paraplegia 11 oboInOwl:hasDbXref ORDO:2822 semapv:UnspecifiedMatching -DOID:0110764 hereditary spastic paraplegia 11 skos:exactMatch OMIM:604360 semapv:UnspecifiedMatching DOID:0110765 hereditary spastic paraplegia 12 oboInOwl:hasDbXref GARD:9586 semapv:UnspecifiedMatching DOID:0110765 hereditary spastic paraplegia 12 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110765 hereditary spastic paraplegia 12 oboInOwl:hasDbXref OMIM:604805 semapv:UnspecifiedMatching DOID:0110765 hereditary spastic paraplegia 12 oboInOwl:hasDbXref ORDO:100993 semapv:UnspecifiedMatching -DOID:0110765 hereditary spastic paraplegia 12 skos:exactMatch OMIM:604805 semapv:UnspecifiedMatching DOID:0110766 hereditary spastic paraplegia 13 oboInOwl:hasDbXref GARD:9616 semapv:UnspecifiedMatching DOID:0110766 hereditary spastic paraplegia 13 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110766 hereditary spastic paraplegia 13 oboInOwl:hasDbXref OMIM:605280 semapv:UnspecifiedMatching DOID:0110766 hereditary spastic paraplegia 13 oboInOwl:hasDbXref ORDO:100994 semapv:UnspecifiedMatching -DOID:0110766 hereditary spastic paraplegia 13 skos:exactMatch OMIM:605280 semapv:UnspecifiedMatching DOID:0110767 hereditary spastic paraplegia 14 oboInOwl:hasDbXref GARD:9589 semapv:UnspecifiedMatching DOID:0110767 hereditary spastic paraplegia 14 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110767 hereditary spastic paraplegia 14 oboInOwl:hasDbXref OMIM:605229 semapv:UnspecifiedMatching DOID:0110767 hereditary spastic paraplegia 14 oboInOwl:hasDbXref ORDO:100995 semapv:UnspecifiedMatching -DOID:0110767 hereditary spastic paraplegia 14 skos:exactMatch OMIM:605229 semapv:UnspecifiedMatching DOID:0110768 hereditary spastic paraplegia 15 oboInOwl:hasDbXref GARD:9581 semapv:UnspecifiedMatching DOID:0110768 hereditary spastic paraplegia 15 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110768 hereditary spastic paraplegia 15 oboInOwl:hasDbXref OMIM:270700 semapv:UnspecifiedMatching DOID:0110768 hereditary spastic paraplegia 15 oboInOwl:hasDbXref ORDO:100996 semapv:UnspecifiedMatching -DOID:0110768 hereditary spastic paraplegia 15 skos:exactMatch OMIM:270700 semapv:UnspecifiedMatching DOID:0110769 hereditary spastic paraplegia 16 oboInOwl:hasDbXref GARD:9585 semapv:UnspecifiedMatching DOID:0110769 hereditary spastic paraplegia 16 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110769 hereditary spastic paraplegia 16 oboInOwl:hasDbXref OMIM:300266 semapv:UnspecifiedMatching DOID:0110769 hereditary spastic paraplegia 16 oboInOwl:hasDbXref ORDO:100997 semapv:UnspecifiedMatching -DOID:0110769 hereditary spastic paraplegia 16 skos:exactMatch OMIM:300266 semapv:UnspecifiedMatching DOID:0110770 hereditary spastic paraplegia 17 oboInOwl:hasDbXref GARD:4219 semapv:UnspecifiedMatching DOID:0110770 hereditary spastic paraplegia 17 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110770 hereditary spastic paraplegia 17 oboInOwl:hasDbXref OMIM:270685 semapv:UnspecifiedMatching DOID:0110770 hereditary spastic paraplegia 17 oboInOwl:hasDbXref ORDO:100998 semapv:UnspecifiedMatching -DOID:0110770 hereditary spastic paraplegia 17 skos:exactMatch OMIM:270685 semapv:UnspecifiedMatching DOID:0110771 hereditary spastic paraplegia 18 oboInOwl:hasDbXref GARD:4922 semapv:UnspecifiedMatching DOID:0110771 hereditary spastic paraplegia 18 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110771 hereditary spastic paraplegia 18 oboInOwl:hasDbXref OMIM:611225 semapv:UnspecifiedMatching DOID:0110771 hereditary spastic paraplegia 18 oboInOwl:hasDbXref ORDO:209951 semapv:UnspecifiedMatching -DOID:0110771 hereditary spastic paraplegia 18 skos:exactMatch OMIM:611225 semapv:UnspecifiedMatching DOID:0110772 hereditary spastic paraplegia 19 oboInOwl:hasDbXref GARD:9588 semapv:UnspecifiedMatching DOID:0110772 hereditary spastic paraplegia 19 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110772 hereditary spastic paraplegia 19 oboInOwl:hasDbXref OMIM:607152 semapv:UnspecifiedMatching DOID:0110772 hereditary spastic paraplegia 19 oboInOwl:hasDbXref ORDO:100999 semapv:UnspecifiedMatching -DOID:0110772 hereditary spastic paraplegia 19 skos:exactMatch OMIM:607152 semapv:UnspecifiedMatching DOID:0110773 hereditary spastic paraplegia 2 oboInOwl:hasDbXref GARD:4923 semapv:UnspecifiedMatching DOID:0110773 hereditary spastic paraplegia 2 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110773 hereditary spastic paraplegia 2 oboInOwl:hasDbXref OMIM:312920 semapv:UnspecifiedMatching DOID:0110773 hereditary spastic paraplegia 2 oboInOwl:hasDbXref ORDO:99015 semapv:UnspecifiedMatching -DOID:0110773 hereditary spastic paraplegia 2 skos:exactMatch OMIM:312920 semapv:UnspecifiedMatching DOID:0110774 hereditary spastic paraplegia 23 oboInOwl:hasDbXref GARD:336 semapv:UnspecifiedMatching DOID:0110774 hereditary spastic paraplegia 23 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110774 hereditary spastic paraplegia 23 oboInOwl:hasDbXref OMIM:270750 semapv:UnspecifiedMatching DOID:0110774 hereditary spastic paraplegia 23 oboInOwl:hasDbXref ORDO:101003 semapv:UnspecifiedMatching -DOID:0110774 hereditary spastic paraplegia 23 skos:exactMatch OMIM:270750 semapv:UnspecifiedMatching DOID:0110775 hereditary spastic paraplegia 24 oboInOwl:hasDbXref GARD:9296 semapv:UnspecifiedMatching DOID:0110775 hereditary spastic paraplegia 24 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110775 hereditary spastic paraplegia 24 oboInOwl:hasDbXref OMIM:607584 semapv:UnspecifiedMatching DOID:0110775 hereditary spastic paraplegia 24 oboInOwl:hasDbXref ORDO:101004 semapv:UnspecifiedMatching -DOID:0110775 hereditary spastic paraplegia 24 skos:exactMatch OMIM:607584 semapv:UnspecifiedMatching DOID:0110776 hereditary spastic paraplegia 25 oboInOwl:hasDbXref GARD:9582 semapv:UnspecifiedMatching DOID:0110776 hereditary spastic paraplegia 25 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110776 hereditary spastic paraplegia 25 oboInOwl:hasDbXref OMIM:608220 semapv:UnspecifiedMatching DOID:0110776 hereditary spastic paraplegia 25 oboInOwl:hasDbXref ORDO:101005 semapv:UnspecifiedMatching -DOID:0110776 hereditary spastic paraplegia 25 skos:exactMatch OMIM:608220 semapv:UnspecifiedMatching DOID:0110777 hereditary spastic paraplegia 26 oboInOwl:hasDbXref GARD:9587 semapv:UnspecifiedMatching DOID:0110777 hereditary spastic paraplegia 26 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110777 hereditary spastic paraplegia 26 oboInOwl:hasDbXref OMIM:609195 semapv:UnspecifiedMatching DOID:0110777 hereditary spastic paraplegia 26 oboInOwl:hasDbXref ORDO:101006 semapv:UnspecifiedMatching -DOID:0110777 hereditary spastic paraplegia 26 skos:exactMatch OMIM:609195 semapv:UnspecifiedMatching DOID:0110778 hereditary spastic paraplegia 27 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110778 hereditary spastic paraplegia 27 oboInOwl:hasDbXref OMIM:609041 semapv:UnspecifiedMatching DOID:0110778 hereditary spastic paraplegia 27 oboInOwl:hasDbXref ORDO:101007 semapv:UnspecifiedMatching -DOID:0110778 hereditary spastic paraplegia 27 skos:exactMatch OMIM:609041 semapv:UnspecifiedMatching DOID:0110779 hereditary spastic paraplegia 28 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110779 hereditary spastic paraplegia 28 oboInOwl:hasDbXref OMIM:609340 semapv:UnspecifiedMatching DOID:0110779 hereditary spastic paraplegia 28 oboInOwl:hasDbXref ORDO:101008 semapv:UnspecifiedMatching -DOID:0110779 hereditary spastic paraplegia 28 skos:exactMatch OMIM:609340 semapv:UnspecifiedMatching DOID:0110780 hereditary spastic paraplegia 29 oboInOwl:hasDbXref GARD:9729 semapv:UnspecifiedMatching DOID:0110780 hereditary spastic paraplegia 29 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110780 hereditary spastic paraplegia 29 oboInOwl:hasDbXref OMIM:609727 semapv:UnspecifiedMatching DOID:0110780 hereditary spastic paraplegia 29 oboInOwl:hasDbXref ORDO:101009 semapv:UnspecifiedMatching -DOID:0110780 hereditary spastic paraplegia 29 skos:exactMatch OMIM:609727 semapv:UnspecifiedMatching DOID:0110781 hereditary spastic paraplegia 30 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110781 hereditary spastic paraplegia 30 oboInOwl:hasDbXref OMIM:610357 semapv:UnspecifiedMatching DOID:0110781 hereditary spastic paraplegia 30 oboInOwl:hasDbXref ORDO:101010 semapv:UnspecifiedMatching -DOID:0110781 hereditary spastic paraplegia 30 skos:exactMatch OMIM:610357 semapv:UnspecifiedMatching DOID:0110782 hereditary spastic paraplegia 31 oboInOwl:hasDbXref GARD:10817 semapv:UnspecifiedMatching DOID:0110782 hereditary spastic paraplegia 31 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110782 hereditary spastic paraplegia 31 oboInOwl:hasDbXref OMIM:610250 semapv:UnspecifiedMatching DOID:0110782 hereditary spastic paraplegia 31 oboInOwl:hasDbXref ORDO:101011 semapv:UnspecifiedMatching -DOID:0110782 hereditary spastic paraplegia 31 skos:exactMatch OMIM:610250 semapv:UnspecifiedMatching DOID:0110783 hereditary spastic paraplegia 32 oboInOwl:hasDbXref GARD:12749 semapv:UnspecifiedMatching DOID:0110783 hereditary spastic paraplegia 32 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110783 hereditary spastic paraplegia 32 oboInOwl:hasDbXref OMIM:611252 semapv:UnspecifiedMatching DOID:0110783 hereditary spastic paraplegia 32 oboInOwl:hasDbXref ORDO:171622 semapv:UnspecifiedMatching -DOID:0110783 hereditary spastic paraplegia 32 skos:exactMatch OMIM:611252 semapv:UnspecifiedMatching -DOID:0110784 hereditary spastic paraplegia 33 oboInOwl:hasDbXref OMIM:610244 semapv:UnspecifiedMatching -DOID:0110784 hereditary spastic paraplegia 33 skos:exactMatch OMIM:610244 semapv:UnspecifiedMatching DOID:0110785 hereditary spastic paraplegia 34 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110785 hereditary spastic paraplegia 34 oboInOwl:hasDbXref OMIM:300750 semapv:UnspecifiedMatching DOID:0110785 hereditary spastic paraplegia 34 oboInOwl:hasDbXref ORDO:171607 semapv:UnspecifiedMatching -DOID:0110785 hereditary spastic paraplegia 34 skos:exactMatch OMIM:300750 semapv:UnspecifiedMatching DOID:0110786 hereditary spastic paraplegia 35 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110786 hereditary spastic paraplegia 35 oboInOwl:hasDbXref OMIM:612319 semapv:UnspecifiedMatching DOID:0110786 hereditary spastic paraplegia 35 oboInOwl:hasDbXref ORDO:171629 semapv:UnspecifiedMatching -DOID:0110786 hereditary spastic paraplegia 35 skos:exactMatch OMIM:612319 semapv:UnspecifiedMatching DOID:0110787 hereditary spastic paraplegia 36 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110787 hereditary spastic paraplegia 36 oboInOwl:hasDbXref OMIM:613096 semapv:UnspecifiedMatching DOID:0110787 hereditary spastic paraplegia 36 oboInOwl:hasDbXref ORDO:320365 semapv:UnspecifiedMatching -DOID:0110787 hereditary spastic paraplegia 36 skos:exactMatch OMIM:613096 semapv:UnspecifiedMatching DOID:0110788 hereditary spastic paraplegia 37 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110788 hereditary spastic paraplegia 37 oboInOwl:hasDbXref OMIM:611945 semapv:UnspecifiedMatching DOID:0110788 hereditary spastic paraplegia 37 oboInOwl:hasDbXref ORDO:171612 semapv:UnspecifiedMatching -DOID:0110788 hereditary spastic paraplegia 37 skos:exactMatch OMIM:611945 semapv:UnspecifiedMatching DOID:0110789 hereditary spastic paraplegia 38 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110789 hereditary spastic paraplegia 38 oboInOwl:hasDbXref OMIM:612335 semapv:UnspecifiedMatching DOID:0110789 hereditary spastic paraplegia 38 oboInOwl:hasDbXref ORDO:171617 semapv:UnspecifiedMatching -DOID:0110789 hereditary spastic paraplegia 38 skos:exactMatch OMIM:612335 semapv:UnspecifiedMatching DOID:0110790 hereditary spastic paraplegia 39 oboInOwl:hasDbXref GARD:4924 semapv:UnspecifiedMatching DOID:0110790 hereditary spastic paraplegia 39 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110790 hereditary spastic paraplegia 39 oboInOwl:hasDbXref OMIM:612020 semapv:UnspecifiedMatching DOID:0110790 hereditary spastic paraplegia 39 oboInOwl:hasDbXref ORDO:139480 semapv:UnspecifiedMatching -DOID:0110790 hereditary spastic paraplegia 39 skos:exactMatch OMIM:612020 semapv:UnspecifiedMatching DOID:0110791 hereditary spastic paraplegia 3A oboInOwl:hasDbXref GARD:5041 semapv:UnspecifiedMatching DOID:0110791 hereditary spastic paraplegia 3A oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110791 hereditary spastic paraplegia 3A oboInOwl:hasDbXref OMIM:182600 semapv:UnspecifiedMatching DOID:0110791 hereditary spastic paraplegia 3A oboInOwl:hasDbXref ORDO:100984 semapv:UnspecifiedMatching -DOID:0110791 hereditary spastic paraplegia 3A skos:exactMatch OMIM:182600 semapv:UnspecifiedMatching DOID:0110792 hereditary spastic paraplegia 4 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110792 hereditary spastic paraplegia 4 oboInOwl:hasDbXref OMIM:182601 semapv:UnspecifiedMatching DOID:0110792 hereditary spastic paraplegia 4 oboInOwl:hasDbXref ORDO:100985 semapv:UnspecifiedMatching -DOID:0110792 hereditary spastic paraplegia 4 skos:exactMatch OMIM:182601 semapv:UnspecifiedMatching DOID:0110793 hereditary spastic paraplegia 41 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110793 hereditary spastic paraplegia 41 oboInOwl:hasDbXref OMIM:613364 semapv:UnspecifiedMatching DOID:0110793 hereditary spastic paraplegia 41 oboInOwl:hasDbXref ORDO:320355 semapv:UnspecifiedMatching -DOID:0110793 hereditary spastic paraplegia 41 skos:exactMatch OMIM:613364 semapv:UnspecifiedMatching DOID:0110794 hereditary spastic paraplegia 42 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110794 hereditary spastic paraplegia 42 oboInOwl:hasDbXref OMIM:612539 semapv:UnspecifiedMatching DOID:0110794 hereditary spastic paraplegia 42 oboInOwl:hasDbXref ORDO:171863 semapv:UnspecifiedMatching -DOID:0110794 hereditary spastic paraplegia 42 skos:exactMatch OMIM:612539 semapv:UnspecifiedMatching DOID:0110795 hereditary spastic paraplegia 43 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110795 hereditary spastic paraplegia 43 oboInOwl:hasDbXref OMIM:615043 semapv:UnspecifiedMatching DOID:0110795 hereditary spastic paraplegia 43 oboInOwl:hasDbXref ORDO:320370 semapv:UnspecifiedMatching -DOID:0110795 hereditary spastic paraplegia 43 skos:exactMatch OMIM:615043 semapv:UnspecifiedMatching DOID:0110796 hereditary spastic paraplegia 44 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110796 hereditary spastic paraplegia 44 oboInOwl:hasDbXref OMIM:613206 semapv:UnspecifiedMatching DOID:0110796 hereditary spastic paraplegia 44 oboInOwl:hasDbXref ORDO:320401 semapv:UnspecifiedMatching -DOID:0110796 hereditary spastic paraplegia 44 skos:exactMatch OMIM:613206 semapv:UnspecifiedMatching DOID:0110797 hereditary spastic paraplegia 45 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110797 hereditary spastic paraplegia 45 oboInOwl:hasDbXref OMIM:613162 semapv:UnspecifiedMatching DOID:0110797 hereditary spastic paraplegia 45 oboInOwl:hasDbXref ORDO:320396 semapv:UnspecifiedMatching -DOID:0110797 hereditary spastic paraplegia 45 skos:exactMatch OMIM:613162 semapv:UnspecifiedMatching DOID:0110798 hereditary spastic paraplegia 46 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110798 hereditary spastic paraplegia 46 oboInOwl:hasDbXref OMIM:614409 semapv:UnspecifiedMatching DOID:0110798 hereditary spastic paraplegia 46 oboInOwl:hasDbXref ORDO:320391 semapv:UnspecifiedMatching -DOID:0110798 hereditary spastic paraplegia 46 skos:exactMatch OMIM:614409 semapv:UnspecifiedMatching -DOID:0110799 hereditary spastic paraplegia 47 oboInOwl:hasDbXref OMIM:614066 semapv:UnspecifiedMatching DOID:0110799 hereditary spastic paraplegia 47 oboInOwl:hasDbXref ORDO:280763 semapv:UnspecifiedMatching -DOID:0110799 hereditary spastic paraplegia 47 skos:exactMatch OMIM:614066 semapv:UnspecifiedMatching DOID:0110800 hereditary spastic paraplegia 48 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110800 hereditary spastic paraplegia 48 oboInOwl:hasDbXref OMIM:613647 semapv:UnspecifiedMatching DOID:0110800 hereditary spastic paraplegia 48 oboInOwl:hasDbXref ORDO:306511 semapv:UnspecifiedMatching -DOID:0110800 hereditary spastic paraplegia 48 skos:exactMatch OMIM:613647 semapv:UnspecifiedMatching DOID:0110801 hereditary spastic paraplegia 49 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110801 hereditary spastic paraplegia 49 oboInOwl:hasDbXref OMIM:615031 semapv:UnspecifiedMatching DOID:0110801 hereditary spastic paraplegia 49 oboInOwl:hasDbXref ORDO:320385 semapv:UnspecifiedMatching -DOID:0110801 hereditary spastic paraplegia 49 skos:exactMatch OMIM:615031 semapv:UnspecifiedMatching -DOID:0110802 hereditary spastic paraplegia 50 oboInOwl:hasDbXref OMIM:612936 semapv:UnspecifiedMatching DOID:0110802 hereditary spastic paraplegia 50 oboInOwl:hasDbXref ORDO:280763 semapv:UnspecifiedMatching -DOID:0110802 hereditary spastic paraplegia 50 skos:exactMatch OMIM:612936 semapv:UnspecifiedMatching DOID:0110803 hereditary spastic paraplegia 51 oboInOwl:hasDbXref GARD:10999 semapv:UnspecifiedMatching -DOID:0110803 hereditary spastic paraplegia 51 oboInOwl:hasDbXref OMIM:613744 semapv:UnspecifiedMatching DOID:0110803 hereditary spastic paraplegia 51 oboInOwl:hasDbXref ORDO:280763 semapv:UnspecifiedMatching -DOID:0110803 hereditary spastic paraplegia 51 skos:exactMatch OMIM:613744 semapv:UnspecifiedMatching -DOID:0110804 hereditary spastic paraplegia 52 oboInOwl:hasDbXref OMIM:614067 semapv:UnspecifiedMatching DOID:0110804 hereditary spastic paraplegia 52 oboInOwl:hasDbXref ORDO:280763 semapv:UnspecifiedMatching -DOID:0110804 hereditary spastic paraplegia 52 skos:exactMatch OMIM:614067 semapv:UnspecifiedMatching DOID:0110805 hereditary spastic paraplegia 53 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110805 hereditary spastic paraplegia 53 oboInOwl:hasDbXref OMIM:614898 semapv:UnspecifiedMatching DOID:0110805 hereditary spastic paraplegia 53 oboInOwl:hasDbXref ORDO:319199 semapv:UnspecifiedMatching -DOID:0110805 hereditary spastic paraplegia 53 skos:exactMatch OMIM:614898 semapv:UnspecifiedMatching DOID:0110806 hereditary spastic paraplegia 54 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110806 hereditary spastic paraplegia 54 oboInOwl:hasDbXref OMIM:615033 semapv:UnspecifiedMatching DOID:0110806 hereditary spastic paraplegia 54 oboInOwl:hasDbXref ORDO:320380 semapv:UnspecifiedMatching -DOID:0110806 hereditary spastic paraplegia 54 skos:exactMatch OMIM:615033 semapv:UnspecifiedMatching DOID:0110807 hereditary spastic paraplegia 55 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110807 hereditary spastic paraplegia 55 oboInOwl:hasDbXref OMIM:615035 semapv:UnspecifiedMatching DOID:0110807 hereditary spastic paraplegia 55 oboInOwl:hasDbXref ORDO:320375 semapv:UnspecifiedMatching -DOID:0110807 hereditary spastic paraplegia 55 skos:exactMatch OMIM:615035 semapv:UnspecifiedMatching DOID:0110808 hereditary spastic paraplegia 56 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110808 hereditary spastic paraplegia 56 oboInOwl:hasDbXref OMIM:615030 semapv:UnspecifiedMatching DOID:0110808 hereditary spastic paraplegia 56 oboInOwl:hasDbXref ORDO:320411 semapv:UnspecifiedMatching -DOID:0110808 hereditary spastic paraplegia 56 skos:exactMatch OMIM:615030 semapv:UnspecifiedMatching DOID:0110809 hereditary spastic paraplegia 57 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110809 hereditary spastic paraplegia 57 oboInOwl:hasDbXref OMIM:615658 semapv:UnspecifiedMatching DOID:0110809 hereditary spastic paraplegia 57 oboInOwl:hasDbXref ORDO:431329 semapv:UnspecifiedMatching -DOID:0110809 hereditary spastic paraplegia 57 skos:exactMatch OMIM:615658 semapv:UnspecifiedMatching DOID:0110810 hereditary spastic paraplegia 5A oboInOwl:hasDbXref GARD:4926 semapv:UnspecifiedMatching DOID:0110810 hereditary spastic paraplegia 5A oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110810 hereditary spastic paraplegia 5A oboInOwl:hasDbXref OMIM:270800 semapv:UnspecifiedMatching DOID:0110810 hereditary spastic paraplegia 5A oboInOwl:hasDbXref ORDO:100986 semapv:UnspecifiedMatching -DOID:0110810 hereditary spastic paraplegia 5A skos:exactMatch OMIM:270800 semapv:UnspecifiedMatching DOID:0110811 hereditary spastic paraplegia 6 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110811 hereditary spastic paraplegia 6 oboInOwl:hasDbXref OMIM:600363 semapv:UnspecifiedMatching DOID:0110811 hereditary spastic paraplegia 6 oboInOwl:hasDbXref ORDO:100988 semapv:UnspecifiedMatching -DOID:0110811 hereditary spastic paraplegia 6 skos:exactMatch OMIM:600363 semapv:UnspecifiedMatching DOID:0110812 hereditary spastic paraplegia 61 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110812 hereditary spastic paraplegia 61 oboInOwl:hasDbXref OMIM:615685 semapv:UnspecifiedMatching DOID:0110812 hereditary spastic paraplegia 61 oboInOwl:hasDbXref ORDO:401780 semapv:UnspecifiedMatching -DOID:0110812 hereditary spastic paraplegia 61 skos:exactMatch OMIM:615685 semapv:UnspecifiedMatching DOID:0110813 hereditary spastic paraplegia 62 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110813 hereditary spastic paraplegia 62 oboInOwl:hasDbXref OMIM:615681 semapv:UnspecifiedMatching DOID:0110813 hereditary spastic paraplegia 62 oboInOwl:hasDbXref ORDO:401785 semapv:UnspecifiedMatching -DOID:0110813 hereditary spastic paraplegia 62 skos:exactMatch OMIM:615681 semapv:UnspecifiedMatching DOID:0110814 hereditary spastic paraplegia 63 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110814 hereditary spastic paraplegia 63 oboInOwl:hasDbXref OMIM:615686 semapv:UnspecifiedMatching DOID:0110814 hereditary spastic paraplegia 63 oboInOwl:hasDbXref ORDO:401805 semapv:UnspecifiedMatching -DOID:0110814 hereditary spastic paraplegia 63 skos:exactMatch OMIM:615686 semapv:UnspecifiedMatching DOID:0110815 hereditary spastic paraplegia 64 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110815 hereditary spastic paraplegia 64 oboInOwl:hasDbXref OMIM:615683 semapv:UnspecifiedMatching DOID:0110815 hereditary spastic paraplegia 64 oboInOwl:hasDbXref ORDO:401810 semapv:UnspecifiedMatching -DOID:0110815 hereditary spastic paraplegia 64 skos:exactMatch OMIM:615683 semapv:UnspecifiedMatching DOID:0110816 hereditary spastic paraplegia 7 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110816 hereditary spastic paraplegia 7 oboInOwl:hasDbXref OMIM:607259 semapv:UnspecifiedMatching DOID:0110816 hereditary spastic paraplegia 7 oboInOwl:hasDbXref ORDO:99013 semapv:UnspecifiedMatching -DOID:0110816 hereditary spastic paraplegia 7 skos:exactMatch OMIM:607259 semapv:UnspecifiedMatching DOID:0110817 hereditary spastic paraplegia 72A oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110817 hereditary spastic paraplegia 72A oboInOwl:hasDbXref OMIM:615625 semapv:UnspecifiedMatching DOID:0110817 hereditary spastic paraplegia 72A oboInOwl:hasDbXref ORDO:401849 semapv:UnspecifiedMatching -DOID:0110817 hereditary spastic paraplegia 72A skos:exactMatch OMIM:615625 semapv:UnspecifiedMatching DOID:0110818 hereditary spastic paraplegia 73 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110818 hereditary spastic paraplegia 73 oboInOwl:hasDbXref OMIM:616282 semapv:UnspecifiedMatching DOID:0110818 hereditary spastic paraplegia 73 oboInOwl:hasDbXref ORDO:444099 semapv:UnspecifiedMatching -DOID:0110818 hereditary spastic paraplegia 73 skos:exactMatch OMIM:616282 semapv:UnspecifiedMatching -DOID:0110819 hereditary spastic paraplegia 74 oboInOwl:hasDbXref OMIM:616451 semapv:UnspecifiedMatching DOID:0110819 hereditary spastic paraplegia 74 oboInOwl:hasDbXref ORDO:468661 semapv:UnspecifiedMatching -DOID:0110819 hereditary spastic paraplegia 74 skos:exactMatch OMIM:616451 semapv:UnspecifiedMatching DOID:0110820 hereditary spastic paraplegia 75 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110820 hereditary spastic paraplegia 75 oboInOwl:hasDbXref OMIM:616680 semapv:UnspecifiedMatching DOID:0110820 hereditary spastic paraplegia 75 oboInOwl:hasDbXref ORDO:459056 semapv:UnspecifiedMatching -DOID:0110820 hereditary spastic paraplegia 75 skos:exactMatch OMIM:616680 semapv:UnspecifiedMatching -DOID:0110821 hereditary spastic paraplegia 76 oboInOwl:hasDbXref OMIM:616907 semapv:UnspecifiedMatching -DOID:0110821 hereditary spastic paraplegia 76 skos:exactMatch OMIM:616907 semapv:UnspecifiedMatching DOID:0110822 hereditary spastic paraplegia 77 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110822 hereditary spastic paraplegia 77 oboInOwl:hasDbXref OMIM:617046 semapv:UnspecifiedMatching DOID:0110822 hereditary spastic paraplegia 77 oboInOwl:hasDbXref ORDO:466722 semapv:UnspecifiedMatching -DOID:0110822 hereditary spastic paraplegia 77 skos:exactMatch OMIM:617046 semapv:UnspecifiedMatching DOID:0110823 hereditary spastic paraplegia 8 oboInOwl:hasDbXref GARD:9591 semapv:UnspecifiedMatching DOID:0110823 hereditary spastic paraplegia 8 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110823 hereditary spastic paraplegia 8 oboInOwl:hasDbXref OMIM:603563 semapv:UnspecifiedMatching DOID:0110823 hereditary spastic paraplegia 8 oboInOwl:hasDbXref ORDO:100989 semapv:UnspecifiedMatching -DOID:0110823 hereditary spastic paraplegia 8 skos:exactMatch OMIM:603563 semapv:UnspecifiedMatching DOID:0110824 hereditary spastic paraplegia 9A oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110824 hereditary spastic paraplegia 9A oboInOwl:hasDbXref OMIM:601162 semapv:UnspecifiedMatching DOID:0110824 hereditary spastic paraplegia 9A oboInOwl:hasDbXref ORDO:100990 semapv:UnspecifiedMatching DOID:0110824 hereditary spastic paraplegia 9A oboInOwl:hasDbXref ORDO:447753 semapv:UnspecifiedMatching -DOID:0110824 hereditary spastic paraplegia 9A skos:exactMatch OMIM:601162 semapv:UnspecifiedMatching DOID:0110825 hereditary spastic paraplegia 9B oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110825 hereditary spastic paraplegia 9B oboInOwl:hasDbXref OMIM:616586 semapv:UnspecifiedMatching DOID:0110825 hereditary spastic paraplegia 9B oboInOwl:hasDbXref ORDO:447760 semapv:UnspecifiedMatching -DOID:0110825 hereditary spastic paraplegia 9B skos:exactMatch OMIM:616586 semapv:UnspecifiedMatching DOID:0110826 Usher syndrome type 1 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110826 Usher syndrome type 1 oboInOwl:hasDbXref OMIM:276900 semapv:UnspecifiedMatching DOID:0110826 Usher syndrome type 1 oboInOwl:hasDbXref ORDO:231169 semapv:UnspecifiedMatching -DOID:0110826 Usher syndrome type 1 skos:exactMatch OMIM:276900 semapv:UnspecifiedMatching DOID:0110827 Usher syndrome type 2 oboInOwl:hasDbXref MESH:D052245 semapv:UnspecifiedMatching DOID:0110827 Usher syndrome type 2 oboInOwl:hasDbXref NCI:C126328 semapv:UnspecifiedMatching DOID:0110827 Usher syndrome type 2 oboInOwl:hasDbXref ORDO:231178 semapv:UnspecifiedMatching @@ -12687,954 +5900,337 @@ DOID:0110828 Usher syndrome type 3 oboInOwl:hasDbXref ORDO:231183 semapv:Unspeci DOID:0110829 retinitis pigmentosa-deafness syndrome oboInOwl:hasDbXref GARD:4684 semapv:UnspecifiedMatching DOID:0110829 retinitis pigmentosa-deafness syndrome oboInOwl:hasDbXref MESH:D052245 semapv:UnspecifiedMatching DOID:0110829 retinitis pigmentosa-deafness syndrome oboInOwl:hasDbXref NCI:C126329 semapv:UnspecifiedMatching -DOID:0110829 retinitis pigmentosa-deafness syndrome oboInOwl:hasDbXref OMIM:500004 semapv:UnspecifiedMatching DOID:0110829 retinitis pigmentosa-deafness syndrome oboInOwl:hasDbXref ORDO:231183 semapv:UnspecifiedMatching DOID:0110829 retinitis pigmentosa-deafness syndrome oboInOwl:hasDbXref UMLS:C1568248 semapv:UnspecifiedMatching -DOID:0110829 retinitis pigmentosa-deafness syndrome skos:exactMatch OMIM:500004 semapv:UnspecifiedMatching DOID:0110830 Usher syndrome type 1C oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110830 Usher syndrome type 1C oboInOwl:hasDbXref OMIM:276904 semapv:UnspecifiedMatching -DOID:0110830 Usher syndrome type 1C skos:exactMatch OMIM:276904 semapv:UnspecifiedMatching DOID:0110831 Usher syndrome type 1D oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110831 Usher syndrome type 1D oboInOwl:hasDbXref OMIM:601067 semapv:UnspecifiedMatching -DOID:0110831 Usher syndrome type 1D skos:exactMatch OMIM:601067 semapv:UnspecifiedMatching DOID:0110832 Usher syndrome type 1F oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110832 Usher syndrome type 1F oboInOwl:hasDbXref OMIM:602083 semapv:UnspecifiedMatching -DOID:0110832 Usher syndrome type 1F skos:exactMatch OMIM:602083 semapv:UnspecifiedMatching DOID:0110833 Usher syndrome type 1E oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110833 Usher syndrome type 1E oboInOwl:hasDbXref OMIM:602097 semapv:UnspecifiedMatching -DOID:0110833 Usher syndrome type 1E skos:exactMatch OMIM:602097 semapv:UnspecifiedMatching DOID:0110834 Usher syndrome type 1G oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110834 Usher syndrome type 1G oboInOwl:hasDbXref OMIM:606943 semapv:UnspecifiedMatching -DOID:0110834 Usher syndrome type 1G skos:exactMatch OMIM:606943 semapv:UnspecifiedMatching DOID:0110835 Usher syndrome type 1H oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110835 Usher syndrome type 1H oboInOwl:hasDbXref OMIM:612632 semapv:UnspecifiedMatching -DOID:0110835 Usher syndrome type 1H skos:exactMatch OMIM:612632 semapv:UnspecifiedMatching DOID:0110836 Usher syndrome type 1J oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110836 Usher syndrome type 1J oboInOwl:hasDbXref OMIM:614869 semapv:UnspecifiedMatching -DOID:0110836 Usher syndrome type 1J skos:exactMatch OMIM:614869 semapv:UnspecifiedMatching DOID:0110837 Usher syndrome type 1K oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110837 Usher syndrome type 1K oboInOwl:hasDbXref OMIM:614990 semapv:UnspecifiedMatching -DOID:0110837 Usher syndrome type 1K skos:exactMatch OMIM:614990 semapv:UnspecifiedMatching DOID:0110838 Usher syndrome type 2A oboInOwl:hasDbXref GARD:5440 semapv:UnspecifiedMatching DOID:0110838 Usher syndrome type 2A oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110838 Usher syndrome type 2A oboInOwl:hasDbXref OMIM:276901 semapv:UnspecifiedMatching -DOID:0110838 Usher syndrome type 2A skos:exactMatch OMIM:276901 semapv:UnspecifiedMatching DOID:0110839 Usher syndrome type 2C oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110839 Usher syndrome type 2C oboInOwl:hasDbXref OMIM:605472 semapv:UnspecifiedMatching -DOID:0110839 Usher syndrome type 2C skos:exactMatch OMIM:605472 semapv:UnspecifiedMatching DOID:0110840 Usher syndrome type 2D oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110840 Usher syndrome type 2D oboInOwl:hasDbXref OMIM:611383 semapv:UnspecifiedMatching -DOID:0110840 Usher syndrome type 2D skos:exactMatch OMIM:611383 semapv:UnspecifiedMatching DOID:0110841 Usher syndrome type 3A oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110841 Usher syndrome type 3A oboInOwl:hasDbXref OMIM:276902 semapv:UnspecifiedMatching -DOID:0110841 Usher syndrome type 3A skos:exactMatch OMIM:276902 semapv:UnspecifiedMatching DOID:0110842 Usher syndrome type 3B oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110842 Usher syndrome type 3B oboInOwl:hasDbXref OMIM:614504 semapv:UnspecifiedMatching -DOID:0110842 Usher syndrome type 3B skos:exactMatch OMIM:614504 semapv:UnspecifiedMatching DOID:0110843 xeroderma pigmentosum group A oboInOwl:hasDbXref ICD10CM:Q82.1 semapv:UnspecifiedMatching -DOID:0110843 xeroderma pigmentosum group A oboInOwl:hasDbXref OMIM:278700 semapv:UnspecifiedMatching -DOID:0110843 xeroderma pigmentosum group A skos:exactMatch OMIM:278700 semapv:UnspecifiedMatching DOID:0110844 xeroderma pigmentosum group C oboInOwl:hasDbXref ICD10CM:Q82.1 semapv:UnspecifiedMatching -DOID:0110844 xeroderma pigmentosum group C oboInOwl:hasDbXref OMIM:278720 semapv:UnspecifiedMatching -DOID:0110844 xeroderma pigmentosum group C skos:exactMatch OMIM:278720 semapv:UnspecifiedMatching DOID:0110845 xeroderma pigmentosum group D oboInOwl:hasDbXref ICD10CM:Q82.1 semapv:UnspecifiedMatching -DOID:0110845 xeroderma pigmentosum group D oboInOwl:hasDbXref OMIM:278730 semapv:UnspecifiedMatching -DOID:0110845 xeroderma pigmentosum group D skos:exactMatch OMIM:278730 semapv:UnspecifiedMatching DOID:0110846 xeroderma pigmentosum group E oboInOwl:hasDbXref ICD10CM:Q82.1 semapv:UnspecifiedMatching -DOID:0110846 xeroderma pigmentosum group E oboInOwl:hasDbXref OMIM:278740 semapv:UnspecifiedMatching -DOID:0110846 xeroderma pigmentosum group E skos:exactMatch OMIM:278740 semapv:UnspecifiedMatching DOID:0110847 xeroderma pigmentosum variant type oboInOwl:hasDbXref GARD:5630 semapv:UnspecifiedMatching DOID:0110847 xeroderma pigmentosum variant type oboInOwl:hasDbXref ICD10CM:Q82.1 semapv:UnspecifiedMatching DOID:0110847 xeroderma pigmentosum variant type oboInOwl:hasDbXref MESH:C536766 semapv:UnspecifiedMatching -DOID:0110847 xeroderma pigmentosum variant type oboInOwl:hasDbXref OMIM:278750 semapv:UnspecifiedMatching -DOID:0110847 xeroderma pigmentosum variant type skos:exactMatch OMIM:278750 semapv:UnspecifiedMatching DOID:0110848 xeroderma pigmentosum group F oboInOwl:hasDbXref ICD10CM:Q82.1 semapv:UnspecifiedMatching -DOID:0110848 xeroderma pigmentosum group F oboInOwl:hasDbXref OMIM:278760 semapv:UnspecifiedMatching -DOID:0110848 xeroderma pigmentosum group F skos:exactMatch OMIM:278760 semapv:UnspecifiedMatching DOID:0110849 xeroderma pigmentosum group G oboInOwl:hasDbXref ICD10CM:Q82.1 semapv:UnspecifiedMatching -DOID:0110849 xeroderma pigmentosum group G oboInOwl:hasDbXref OMIM:278780 semapv:UnspecifiedMatching -DOID:0110849 xeroderma pigmentosum group G skos:exactMatch OMIM:278780 semapv:UnspecifiedMatching DOID:0110850 xeroderma pigmentosum group B oboInOwl:hasDbXref ICD10CM:Q82.1 semapv:UnspecifiedMatching -DOID:0110850 xeroderma pigmentosum group B oboInOwl:hasDbXref OMIM:610651 semapv:UnspecifiedMatching -DOID:0110850 xeroderma pigmentosum group B skos:exactMatch OMIM:610651 semapv:UnspecifiedMatching DOID:0110851 rhizomelic chondrodysplasia punctata type 1 oboInOwl:hasDbXref GARD:6049 semapv:UnspecifiedMatching DOID:0110851 rhizomelic chondrodysplasia punctata type 1 oboInOwl:hasDbXref ICD10CM:Q77.3 semapv:UnspecifiedMatching -DOID:0110851 rhizomelic chondrodysplasia punctata type 1 oboInOwl:hasDbXref OMIM:215100 semapv:UnspecifiedMatching DOID:0110851 rhizomelic chondrodysplasia punctata type 1 oboInOwl:hasDbXref ORDO:309789 semapv:UnspecifiedMatching -DOID:0110851 rhizomelic chondrodysplasia punctata type 1 skos:exactMatch OMIM:215100 semapv:UnspecifiedMatching DOID:0110852 rhizomelic chondrodysplasia punctata type 2 oboInOwl:hasDbXref ICD10CM:Q77.3 semapv:UnspecifiedMatching DOID:0110852 rhizomelic chondrodysplasia punctata type 2 oboInOwl:hasDbXref MESH:C537607 semapv:UnspecifiedMatching -DOID:0110852 rhizomelic chondrodysplasia punctata type 2 oboInOwl:hasDbXref OMIM:222765 semapv:UnspecifiedMatching DOID:0110852 rhizomelic chondrodysplasia punctata type 2 oboInOwl:hasDbXref ORDO:309796 semapv:UnspecifiedMatching -DOID:0110852 rhizomelic chondrodysplasia punctata type 2 skos:exactMatch OMIM:222765 semapv:UnspecifiedMatching DOID:0110853 rhizomelic chondrodysplasia punctata type 3 oboInOwl:hasDbXref ICD10CM:Q77.3 semapv:UnspecifiedMatching DOID:0110853 rhizomelic chondrodysplasia punctata type 3 oboInOwl:hasDbXref MESH:C537608 semapv:UnspecifiedMatching -DOID:0110853 rhizomelic chondrodysplasia punctata type 3 oboInOwl:hasDbXref OMIM:600121 semapv:UnspecifiedMatching DOID:0110853 rhizomelic chondrodysplasia punctata type 3 oboInOwl:hasDbXref ORDO:309803 semapv:UnspecifiedMatching -DOID:0110853 rhizomelic chondrodysplasia punctata type 3 skos:exactMatch OMIM:600121 semapv:UnspecifiedMatching -DOID:0110854 rhizomelic chondrodysplasia punctata type 5 oboInOwl:hasDbXref OMIM:616716 semapv:UnspecifiedMatching DOID:0110854 rhizomelic chondrodysplasia punctata type 5 oboInOwl:hasDbXref ORDO:468717 semapv:UnspecifiedMatching -DOID:0110854 rhizomelic chondrodysplasia punctata type 5 skos:exactMatch OMIM:616716 semapv:UnspecifiedMatching DOID:0110855 posterior polymorphous corneal dystrophy 1 oboInOwl:hasDbXref ICD10CM:H18.50 semapv:UnspecifiedMatching -DOID:0110855 posterior polymorphous corneal dystrophy 1 oboInOwl:hasDbXref OMIM:122000 semapv:UnspecifiedMatching -DOID:0110855 posterior polymorphous corneal dystrophy 1 skos:exactMatch OMIM:122000 semapv:UnspecifiedMatching DOID:0110856 posterior polymorphous corneal dystrophy 2 oboInOwl:hasDbXref ICD10CM:H18.50 semapv:UnspecifiedMatching -DOID:0110856 posterior polymorphous corneal dystrophy 2 oboInOwl:hasDbXref OMIM:609140 semapv:UnspecifiedMatching -DOID:0110856 posterior polymorphous corneal dystrophy 2 skos:exactMatch OMIM:609140 semapv:UnspecifiedMatching DOID:0110857 posterior polymorphous corneal dystrophy 3 oboInOwl:hasDbXref ICD10CM:H18.50 semapv:UnspecifiedMatching -DOID:0110857 posterior polymorphous corneal dystrophy 3 oboInOwl:hasDbXref OMIM:609141 semapv:UnspecifiedMatching -DOID:0110857 posterior polymorphous corneal dystrophy 3 skos:exactMatch OMIM:609141 semapv:UnspecifiedMatching -DOID:0110858 polycystic kidney disease 1 oboInOwl:hasDbXref OMIM:173900 semapv:UnspecifiedMatching -DOID:0110858 polycystic kidney disease 1 skos:exactMatch OMIM:173900 semapv:UnspecifiedMatching -DOID:0110859 polycystic kidney disease 2 oboInOwl:hasDbXref OMIM:613095 semapv:UnspecifiedMatching -DOID:0110859 polycystic kidney disease 2 skos:exactMatch OMIM:613095 semapv:UnspecifiedMatching -DOID:0110860 polycystic kidney disease 3 oboInOwl:hasDbXref OMIM:600666 semapv:UnspecifiedMatching -DOID:0110860 polycystic kidney disease 3 skos:exactMatch OMIM:600666 semapv:UnspecifiedMatching DOID:0110861 autosomal recessive polycystic kidney disease oboInOwl:hasDbXref GARD:8378 semapv:UnspecifiedMatching DOID:0110861 autosomal recessive polycystic kidney disease oboInOwl:hasDbXref ICD10CM:Q61.1 semapv:UnspecifiedMatching DOID:0110861 autosomal recessive polycystic kidney disease oboInOwl:hasDbXref ICD9CM:753.14 semapv:UnspecifiedMatching DOID:0110861 autosomal recessive polycystic kidney disease oboInOwl:hasDbXref MESH:D017044 semapv:UnspecifiedMatching DOID:0110861 autosomal recessive polycystic kidney disease oboInOwl:hasDbXref NCI:C84579 semapv:UnspecifiedMatching -DOID:0110861 autosomal recessive polycystic kidney disease oboInOwl:hasDbXref OMIM:263200 semapv:UnspecifiedMatching DOID:0110861 autosomal recessive polycystic kidney disease oboInOwl:hasDbXref ORDO:731 semapv:UnspecifiedMatching DOID:0110861 autosomal recessive polycystic kidney disease oboInOwl:hasDbXref UMLS:C0085548 semapv:UnspecifiedMatching -DOID:0110861 autosomal recessive polycystic kidney disease skos:exactMatch OMIM:263200 semapv:UnspecifiedMatching -DOID:0110862 congenital stationary night blindness autosomal dominant 1 oboInOwl:hasDbXref OMIM:610445 semapv:UnspecifiedMatching -DOID:0110862 congenital stationary night blindness autosomal dominant 1 skos:exactMatch OMIM:610445 semapv:UnspecifiedMatching -DOID:0110863 congenital stationary night blindness autosomal dominant 2 oboInOwl:hasDbXref OMIM:163500 semapv:UnspecifiedMatching -DOID:0110863 congenital stationary night blindness autosomal dominant 2 skos:exactMatch OMIM:163500 semapv:UnspecifiedMatching -DOID:0110864 congenital stationary night blindness 1F oboInOwl:hasDbXref OMIM:615058 semapv:UnspecifiedMatching -DOID:0110864 congenital stationary night blindness 1F skos:exactMatch OMIM:615058 semapv:UnspecifiedMatching -DOID:0110865 congenital stationary night blindness 1B oboInOwl:hasDbXref OMIM:257270 semapv:UnspecifiedMatching -DOID:0110865 congenital stationary night blindness 1B skos:exactMatch OMIM:257270 semapv:UnspecifiedMatching -DOID:0110866 congenital stationary night blindness 1H oboInOwl:hasDbXref OMIM:617024 semapv:UnspecifiedMatching -DOID:0110866 congenital stationary night blindness 1H skos:exactMatch OMIM:617024 semapv:UnspecifiedMatching -DOID:0110867 congenital stationary night blindness 1C oboInOwl:hasDbXref OMIM:613216 semapv:UnspecifiedMatching -DOID:0110867 congenital stationary night blindness 1C skos:exactMatch OMIM:613216 semapv:UnspecifiedMatching -DOID:0110868 congenital stationary night blindness 1D oboInOwl:hasDbXref OMIM:613830 semapv:UnspecifiedMatching -DOID:0110868 congenital stationary night blindness 1D skos:exactMatch OMIM:613830 semapv:UnspecifiedMatching -DOID:0110869 congenital stationary night blindness 1E oboInOwl:hasDbXref OMIM:614565 semapv:UnspecifiedMatching -DOID:0110869 congenital stationary night blindness 1E skos:exactMatch OMIM:614565 semapv:UnspecifiedMatching -DOID:0110870 congenital stationary night blindness 1A oboInOwl:hasDbXref OMIM:310500 semapv:UnspecifiedMatching -DOID:0110870 congenital stationary night blindness 1A skos:exactMatch OMIM:310500 semapv:UnspecifiedMatching -DOID:0110871 congenital stationary night blindness 2A oboInOwl:hasDbXref OMIM:300071 semapv:UnspecifiedMatching -DOID:0110871 congenital stationary night blindness 2A skos:exactMatch OMIM:300071 semapv:UnspecifiedMatching DOID:0110872 holoprosencephaly 2 oboInOwl:hasDbXref MESH:C563579 semapv:UnspecifiedMatching -DOID:0110872 holoprosencephaly 2 oboInOwl:hasDbXref OMIM:157170 semapv:UnspecifiedMatching -DOID:0110872 holoprosencephaly 2 skos:exactMatch OMIM:157170 semapv:UnspecifiedMatching DOID:0110873 holoprosencephaly 9 oboInOwl:hasDbXref MESH:C563659 semapv:UnspecifiedMatching -DOID:0110873 holoprosencephaly 9 oboInOwl:hasDbXref OMIM:610829 semapv:UnspecifiedMatching -DOID:0110873 holoprosencephaly 9 skos:exactMatch OMIM:610829 semapv:UnspecifiedMatching DOID:0110874 holoprosencephaly 6 oboInOwl:hasDbXref MESH:C565274 semapv:UnspecifiedMatching -DOID:0110874 holoprosencephaly 6 oboInOwl:hasDbXref OMIM:605934 semapv:UnspecifiedMatching -DOID:0110874 holoprosencephaly 6 skos:exactMatch OMIM:605934 semapv:UnspecifiedMatching DOID:0110875 holoprosencephaly 3 oboInOwl:hasDbXref MESH:C564181 semapv:UnspecifiedMatching -DOID:0110875 holoprosencephaly 3 oboInOwl:hasDbXref OMIM:142945 semapv:UnspecifiedMatching -DOID:0110875 holoprosencephaly 3 skos:exactMatch OMIM:142945 semapv:UnspecifiedMatching DOID:0110876 holoprosencephaly 7 oboInOwl:hasDbXref MESH:C563660 semapv:UnspecifiedMatching -DOID:0110876 holoprosencephaly 7 oboInOwl:hasDbXref OMIM:610828 semapv:UnspecifiedMatching -DOID:0110876 holoprosencephaly 7 skos:exactMatch OMIM:610828 semapv:UnspecifiedMatching -DOID:0110877 holoprosencephaly 11 oboInOwl:hasDbXref OMIM:614226 semapv:UnspecifiedMatching -DOID:0110877 holoprosencephaly 11 skos:exactMatch OMIM:614226 semapv:UnspecifiedMatching DOID:0110878 holoprosencephaly 5 oboInOwl:hasDbXref MESH:C566464 semapv:UnspecifiedMatching -DOID:0110878 holoprosencephaly 5 oboInOwl:hasDbXref OMIM:609637 semapv:UnspecifiedMatching -DOID:0110878 holoprosencephaly 5 skos:exactMatch OMIM:609637 semapv:UnspecifiedMatching DOID:0110879 holoprosencephaly 8 oboInOwl:hasDbXref MESH:C563723 semapv:UnspecifiedMatching -DOID:0110879 holoprosencephaly 8 oboInOwl:hasDbXref OMIM:609408 semapv:UnspecifiedMatching -DOID:0110879 holoprosencephaly 8 skos:exactMatch OMIM:609408 semapv:UnspecifiedMatching DOID:0110880 holoprosencephaly 4 oboInOwl:hasDbXref MESH:C564180 semapv:UnspecifiedMatching -DOID:0110880 holoprosencephaly 4 oboInOwl:hasDbXref OMIM:142946 semapv:UnspecifiedMatching -DOID:0110880 holoprosencephaly 4 skos:exactMatch OMIM:142946 semapv:UnspecifiedMatching -DOID:0110881 holoprosencephaly 1 oboInOwl:hasDbXref OMIM:236100 semapv:UnspecifiedMatching -DOID:0110881 holoprosencephaly 1 skos:exactMatch OMIM:236100 semapv:UnspecifiedMatching DOID:0110882 inflammatory bowel disease 7 oboInOwl:hasDbXref MESH:C565353 semapv:UnspecifiedMatching -DOID:0110882 inflammatory bowel disease 7 oboInOwl:hasDbXref OMIM:605225 semapv:UnspecifiedMatching -DOID:0110882 inflammatory bowel disease 7 skos:exactMatch OMIM:605225 semapv:UnspecifiedMatching DOID:0110883 inflammatory bowel disease 17 oboInOwl:hasDbXref MESH:C567378 semapv:UnspecifiedMatching -DOID:0110883 inflammatory bowel disease 17 oboInOwl:hasDbXref OMIM:612261 semapv:UnspecifiedMatching -DOID:0110883 inflammatory bowel disease 17 skos:exactMatch OMIM:612261 semapv:UnspecifiedMatching DOID:0110884 inflammatory bowel disease 23 oboInOwl:hasDbXref MESH:C567326 semapv:UnspecifiedMatching -DOID:0110884 inflammatory bowel disease 23 oboInOwl:hasDbXref OMIM:612381 semapv:UnspecifiedMatching -DOID:0110884 inflammatory bowel disease 23 skos:exactMatch OMIM:612381 semapv:UnspecifiedMatching DOID:0110885 inflammatory bowel disease 10 oboInOwl:hasDbXref MESH:C567021 semapv:UnspecifiedMatching -DOID:0110885 inflammatory bowel disease 10 oboInOwl:hasDbXref OMIM:611081 semapv:UnspecifiedMatching -DOID:0110885 inflammatory bowel disease 10 skos:exactMatch OMIM:611081 semapv:UnspecifiedMatching DOID:0110886 inflammatory bowel disease 9 oboInOwl:hasDbXref MESH:C563926 semapv:UnspecifiedMatching -DOID:0110886 inflammatory bowel disease 9 oboInOwl:hasDbXref OMIM:608448 semapv:UnspecifiedMatching -DOID:0110886 inflammatory bowel disease 9 skos:exactMatch OMIM:608448 semapv:UnspecifiedMatching DOID:0110887 inflammatory bowel disease 12 oboInOwl:hasDbXref MESH:C567388 semapv:UnspecifiedMatching -DOID:0110887 inflammatory bowel disease 12 oboInOwl:hasDbXref OMIM:612241 semapv:UnspecifiedMatching -DOID:0110887 inflammatory bowel disease 12 skos:exactMatch OMIM:612241 semapv:UnspecifiedMatching DOID:0110888 inflammatory bowel disease 18 oboInOwl:hasDbXref MESH:C567377 semapv:UnspecifiedMatching -DOID:0110888 inflammatory bowel disease 18 oboInOwl:hasDbXref OMIM:612262 semapv:UnspecifiedMatching -DOID:0110888 inflammatory bowel disease 18 skos:exactMatch OMIM:612262 semapv:UnspecifiedMatching DOID:0110889 inflammatory bowel disease 5 oboInOwl:hasDbXref MESH:C565234 semapv:UnspecifiedMatching -DOID:0110889 inflammatory bowel disease 5 oboInOwl:hasDbXref OMIM:606348 semapv:UnspecifiedMatching -DOID:0110889 inflammatory bowel disease 5 skos:exactMatch OMIM:606348 semapv:UnspecifiedMatching DOID:0110890 inflammatory bowel disease 19 oboInOwl:hasDbXref MESH:C567372 semapv:UnspecifiedMatching -DOID:0110890 inflammatory bowel disease 19 oboInOwl:hasDbXref OMIM:612278 semapv:UnspecifiedMatching -DOID:0110890 inflammatory bowel disease 19 skos:exactMatch OMIM:612278 semapv:UnspecifiedMatching DOID:0110891 inflammatory bowel disease 3 oboInOwl:hasDbXref MESH:C565764 semapv:UnspecifiedMatching -DOID:0110891 inflammatory bowel disease 3 oboInOwl:hasDbXref OMIM:604519 semapv:UnspecifiedMatching -DOID:0110891 inflammatory bowel disease 3 skos:exactMatch OMIM:604519 semapv:UnspecifiedMatching -DOID:0110892 inflammatory bowel disease 1 oboInOwl:hasDbXref OMIM:266600 semapv:UnspecifiedMatching -DOID:0110892 inflammatory bowel disease 1 skos:exactMatch OMIM:266600 semapv:UnspecifiedMatching DOID:0110893 inflammatory bowel disease 13 oboInOwl:hasDbXref MESH:C567384 semapv:UnspecifiedMatching -DOID:0110893 inflammatory bowel disease 13 oboInOwl:hasDbXref OMIM:612244 semapv:UnspecifiedMatching -DOID:0110893 inflammatory bowel disease 13 skos:exactMatch OMIM:612244 semapv:UnspecifiedMatching DOID:0110894 inflammatory bowel disease 11 oboInOwl:hasDbXref MESH:C567154 semapv:UnspecifiedMatching -DOID:0110894 inflammatory bowel disease 11 oboInOwl:hasDbXref OMIM:191390 semapv:UnspecifiedMatching -DOID:0110894 inflammatory bowel disease 11 skos:exactMatch OMIM:191390 semapv:UnspecifiedMatching DOID:0110895 inflammatory bowel disease 14 oboInOwl:hasDbXref MESH:C567383 semapv:UnspecifiedMatching -DOID:0110895 inflammatory bowel disease 14 oboInOwl:hasDbXref OMIM:612245 semapv:UnspecifiedMatching -DOID:0110895 inflammatory bowel disease 14 skos:exactMatch OMIM:612245 semapv:UnspecifiedMatching DOID:0110896 inflammatory bowel disease 16 oboInOwl:hasDbXref MESH:C567380 semapv:UnspecifiedMatching -DOID:0110896 inflammatory bowel disease 16 oboInOwl:hasDbXref OMIM:612259 semapv:UnspecifiedMatching -DOID:0110896 inflammatory bowel disease 16 skos:exactMatch OMIM:612259 semapv:UnspecifiedMatching DOID:0110897 inflammatory bowel disease 15 oboInOwl:hasDbXref MESH:C567381 semapv:UnspecifiedMatching -DOID:0110897 inflammatory bowel disease 15 oboInOwl:hasDbXref OMIM:612255 semapv:UnspecifiedMatching -DOID:0110897 inflammatory bowel disease 15 skos:exactMatch OMIM:612255 semapv:UnspecifiedMatching DOID:0110898 inflammatory bowel disease 20 oboInOwl:hasDbXref MESH:C567361 semapv:UnspecifiedMatching -DOID:0110898 inflammatory bowel disease 20 oboInOwl:hasDbXref OMIM:612288 semapv:UnspecifiedMatching -DOID:0110898 inflammatory bowel disease 20 skos:exactMatch OMIM:612288 semapv:UnspecifiedMatching -DOID:0110899 inflammatory bowel disease 28 oboInOwl:hasDbXref OMIM:613148 semapv:UnspecifiedMatching -DOID:0110899 inflammatory bowel disease 28 skos:exactMatch OMIM:613148 semapv:UnspecifiedMatching DOID:0110900 inflammatory bowel disease 2 oboInOwl:hasDbXref MESH:C563310 semapv:UnspecifiedMatching -DOID:0110900 inflammatory bowel disease 2 oboInOwl:hasDbXref OMIM:601458 semapv:UnspecifiedMatching -DOID:0110900 inflammatory bowel disease 2 skos:exactMatch OMIM:601458 semapv:UnspecifiedMatching DOID:0110901 inflammatory bowel disease 26 oboInOwl:hasDbXref MESH:C567217 semapv:UnspecifiedMatching -DOID:0110901 inflammatory bowel disease 26 oboInOwl:hasDbXref OMIM:612639 semapv:UnspecifiedMatching -DOID:0110901 inflammatory bowel disease 26 skos:exactMatch OMIM:612639 semapv:UnspecifiedMatching DOID:0110902 inflammatory bowel disease 27 oboInOwl:hasDbXref MESH:C567559 semapv:UnspecifiedMatching -DOID:0110902 inflammatory bowel disease 27 oboInOwl:hasDbXref OMIM:612796 semapv:UnspecifiedMatching -DOID:0110902 inflammatory bowel disease 27 skos:exactMatch OMIM:612796 semapv:UnspecifiedMatching DOID:0110903 inflammatory bowel disease 4 oboInOwl:hasDbXref MESH:C564680 semapv:UnspecifiedMatching -DOID:0110903 inflammatory bowel disease 4 oboInOwl:hasDbXref OMIM:606675 semapv:UnspecifiedMatching -DOID:0110903 inflammatory bowel disease 4 skos:exactMatch OMIM:606675 semapv:UnspecifiedMatching DOID:0110904 inflammatory bowel disease 8 oboInOwl:hasDbXref MESH:C564682 semapv:UnspecifiedMatching -DOID:0110904 inflammatory bowel disease 8 oboInOwl:hasDbXref OMIM:606668 semapv:UnspecifiedMatching -DOID:0110904 inflammatory bowel disease 8 skos:exactMatch OMIM:606668 semapv:UnspecifiedMatching DOID:0110905 inflammatory bowel disease 22 oboInOwl:hasDbXref MESH:C567327 semapv:UnspecifiedMatching -DOID:0110905 inflammatory bowel disease 22 oboInOwl:hasDbXref OMIM:612380 semapv:UnspecifiedMatching -DOID:0110905 inflammatory bowel disease 22 skos:exactMatch OMIM:612380 semapv:UnspecifiedMatching DOID:0110906 inflammatory bowel disease 21 oboInOwl:hasDbXref MESH:C567338 semapv:UnspecifiedMatching -DOID:0110906 inflammatory bowel disease 21 oboInOwl:hasDbXref OMIM:612354 semapv:UnspecifiedMatching -DOID:0110906 inflammatory bowel disease 21 skos:exactMatch OMIM:612354 semapv:UnspecifiedMatching DOID:0110907 inflammatory bowel disease 6 oboInOwl:hasDbXref MESH:C564681 semapv:UnspecifiedMatching -DOID:0110907 inflammatory bowel disease 6 oboInOwl:hasDbXref OMIM:606674 semapv:UnspecifiedMatching -DOID:0110907 inflammatory bowel disease 6 skos:exactMatch OMIM:606674 semapv:UnspecifiedMatching DOID:0110908 inflammatory bowel disease 24 oboInOwl:hasDbXref MESH:C567252 semapv:UnspecifiedMatching -DOID:0110908 inflammatory bowel disease 24 oboInOwl:hasDbXref OMIM:612566 semapv:UnspecifiedMatching -DOID:0110908 inflammatory bowel disease 24 skos:exactMatch OMIM:612566 semapv:UnspecifiedMatching -DOID:0110909 inflammatory bowel disease 25 oboInOwl:hasDbXref OMIM:612567 semapv:UnspecifiedMatching -DOID:0110909 inflammatory bowel disease 25 skos:exactMatch OMIM:612567 semapv:UnspecifiedMatching -DOID:0110910 leukocyte adhesion deficiency 1 oboInOwl:hasDbXref OMIM:116920 semapv:UnspecifiedMatching DOID:0110910 leukocyte adhesion deficiency 1 oboInOwl:hasDbXref ORDO:99842 semapv:UnspecifiedMatching -DOID:0110910 leukocyte adhesion deficiency 1 skos:exactMatch OMIM:116920 semapv:UnspecifiedMatching -DOID:0110912 leukocyte adhesion deficiency 3 oboInOwl:hasDbXref OMIM:612840 semapv:UnspecifiedMatching DOID:0110912 leukocyte adhesion deficiency 3 oboInOwl:hasDbXref ORDO:99844 semapv:UnspecifiedMatching -DOID:0110912 leukocyte adhesion deficiency 3 skos:exactMatch OMIM:612840 semapv:UnspecifiedMatching -DOID:0110913 adult hypophosphatasia oboInOwl:hasDbXref OMIM:146300 semapv:UnspecifiedMatching DOID:0110913 adult hypophosphatasia oboInOwl:hasDbXref ORDO:247676 semapv:UnspecifiedMatching -DOID:0110913 adult hypophosphatasia skos:exactMatch OMIM:146300 semapv:UnspecifiedMatching -DOID:0110914 infantile hypophosphatasia oboInOwl:hasDbXref OMIM:241500 semapv:UnspecifiedMatching DOID:0110914 infantile hypophosphatasia oboInOwl:hasDbXref ORDO:247651 semapv:UnspecifiedMatching -DOID:0110914 infantile hypophosphatasia skos:exactMatch OMIM:241500 semapv:UnspecifiedMatching DOID:0110915 childhood hypophosphatasia oboInOwl:hasDbXref GARD:8735 semapv:UnspecifiedMatching -DOID:0110915 childhood hypophosphatasia oboInOwl:hasDbXref OMIM:241510 semapv:UnspecifiedMatching DOID:0110915 childhood hypophosphatasia oboInOwl:hasDbXref ORDO:247667 semapv:UnspecifiedMatching -DOID:0110915 childhood hypophosphatasia skos:exactMatch OMIM:241510 semapv:UnspecifiedMatching -DOID:0110916 hereditary spherocytosis type 1 oboInOwl:hasDbXref OMIM:182900 semapv:UnspecifiedMatching -DOID:0110916 hereditary spherocytosis type 1 skos:exactMatch OMIM:182900 semapv:UnspecifiedMatching -DOID:0110917 hereditary spherocytosis type 2 oboInOwl:hasDbXref OMIM:616649 semapv:UnspecifiedMatching -DOID:0110917 hereditary spherocytosis type 2 skos:exactMatch OMIM:616649 semapv:UnspecifiedMatching -DOID:0110918 hereditary spherocytosis type 3 oboInOwl:hasDbXref OMIM:270970 semapv:UnspecifiedMatching -DOID:0110918 hereditary spherocytosis type 3 skos:exactMatch OMIM:270970 semapv:UnspecifiedMatching -DOID:0110919 hereditary spherocytosis type 4 oboInOwl:hasDbXref OMIM:612653 semapv:UnspecifiedMatching -DOID:0110919 hereditary spherocytosis type 4 skos:exactMatch OMIM:612653 semapv:UnspecifiedMatching -DOID:0110920 hereditary spherocytosis type 5 oboInOwl:hasDbXref OMIM:612690 semapv:UnspecifiedMatching -DOID:0110920 hereditary spherocytosis type 5 skos:exactMatch OMIM:612690 semapv:UnspecifiedMatching -DOID:0110921 familial hemophagocytic lymphohistiocytosis 1 oboInOwl:hasDbXref OMIM:267700 semapv:UnspecifiedMatching -DOID:0110921 familial hemophagocytic lymphohistiocytosis 1 skos:exactMatch OMIM:267700 semapv:UnspecifiedMatching DOID:0110922 familial hemophagocytic lymphohistiocytosis 2 oboInOwl:hasDbXref GARD:9922 semapv:UnspecifiedMatching -DOID:0110922 familial hemophagocytic lymphohistiocytosis 2 oboInOwl:hasDbXref OMIM:603553 semapv:UnspecifiedMatching -DOID:0110922 familial hemophagocytic lymphohistiocytosis 2 skos:exactMatch OMIM:603553 semapv:UnspecifiedMatching DOID:0110923 familial hemophagocytic lymphohistiocytosis 3 oboInOwl:hasDbXref GARD:9928 semapv:UnspecifiedMatching -DOID:0110923 familial hemophagocytic lymphohistiocytosis 3 oboInOwl:hasDbXref OMIM:608898 semapv:UnspecifiedMatching -DOID:0110923 familial hemophagocytic lymphohistiocytosis 3 skos:exactMatch OMIM:608898 semapv:UnspecifiedMatching DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 oboInOwl:hasDbXref GARD:9929 semapv:UnspecifiedMatching -DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 oboInOwl:hasDbXref OMIM:603552 semapv:UnspecifiedMatching -DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 skos:exactMatch OMIM:603552 semapv:UnspecifiedMatching -DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 oboInOwl:hasDbXref OMIM:613101 semapv:UnspecifiedMatching -DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 skos:exactMatch OMIM:613101 semapv:UnspecifiedMatching DOID:0110926 nemaline myopathy 1 oboInOwl:hasDbXref MESH:C538348 semapv:UnspecifiedMatching -DOID:0110926 nemaline myopathy 1 oboInOwl:hasDbXref OMIM:609284 semapv:UnspecifiedMatching -DOID:0110926 nemaline myopathy 1 skos:exactMatch OMIM:609284 semapv:UnspecifiedMatching -DOID:0110927 nemaline myopathy 3 oboInOwl:hasDbXref OMIM:161800 semapv:UnspecifiedMatching -DOID:0110927 nemaline myopathy 3 skos:exactMatch OMIM:161800 semapv:UnspecifiedMatching DOID:0110928 nemaline myopathy 2 oboInOwl:hasDbXref MESH:C538349 semapv:UnspecifiedMatching -DOID:0110928 nemaline myopathy 2 oboInOwl:hasDbXref OMIM:256030 semapv:UnspecifiedMatching -DOID:0110928 nemaline myopathy 2 skos:exactMatch OMIM:256030 semapv:UnspecifiedMatching -DOID:0110929 nemaline myopathy 9 oboInOwl:hasDbXref OMIM:615731 semapv:UnspecifiedMatching -DOID:0110929 nemaline myopathy 9 skos:exactMatch OMIM:615731 semapv:UnspecifiedMatching -DOID:0110930 nemaline myopathy 8 oboInOwl:hasDbXref OMIM:615348 semapv:UnspecifiedMatching -DOID:0110930 nemaline myopathy 8 skos:exactMatch OMIM:615348 semapv:UnspecifiedMatching -DOID:0110931 nemaline myopathy 10 oboInOwl:hasDbXref OMIM:616165 semapv:UnspecifiedMatching -DOID:0110931 nemaline myopathy 10 skos:exactMatch OMIM:616165 semapv:UnspecifiedMatching DOID:0110932 nemaline myopathy 4 oboInOwl:hasDbXref MESH:C538351 semapv:UnspecifiedMatching -DOID:0110932 nemaline myopathy 4 oboInOwl:hasDbXref OMIM:609285 semapv:UnspecifiedMatching -DOID:0110932 nemaline myopathy 4 skos:exactMatch OMIM:609285 semapv:UnspecifiedMatching -DOID:0110933 nemaline myopathy 11 oboInOwl:hasDbXref OMIM:617336 semapv:UnspecifiedMatching -DOID:0110933 nemaline myopathy 11 skos:exactMatch OMIM:617336 semapv:UnspecifiedMatching DOID:0110934 nemaline myopathy 7 oboInOwl:hasDbXref MESH:C565198 semapv:UnspecifiedMatching -DOID:0110934 nemaline myopathy 7 oboInOwl:hasDbXref OMIM:610687 semapv:UnspecifiedMatching -DOID:0110934 nemaline myopathy 7 skos:exactMatch OMIM:610687 semapv:UnspecifiedMatching DOID:0110935 nemaline myopathy 6 oboInOwl:hasDbXref MESH:C538398 semapv:UnspecifiedMatching -DOID:0110935 nemaline myopathy 6 oboInOwl:hasDbXref OMIM:609273 semapv:UnspecifiedMatching -DOID:0110935 nemaline myopathy 6 skos:exactMatch OMIM:609273 semapv:UnspecifiedMatching DOID:0110936 nemaline myopathy 5A oboInOwl:hasDbXref GARD:8334 semapv:UnspecifiedMatching DOID:0110936 nemaline myopathy 5A oboInOwl:hasDbXref MESH:C538397 semapv:UnspecifiedMatching -DOID:0110936 nemaline myopathy 5A oboInOwl:hasDbXref OMIM:605355 semapv:UnspecifiedMatching DOID:0110936 nemaline myopathy 5A oboInOwl:hasDbXref ORDO:98902 semapv:UnspecifiedMatching -DOID:0110936 nemaline myopathy 5A skos:exactMatch OMIM:605355 semapv:UnspecifiedMatching DOID:0110937 autosomal dominant osteopetrosis 1 oboInOwl:hasDbXref MESH:C536056 semapv:UnspecifiedMatching -DOID:0110937 autosomal dominant osteopetrosis 1 oboInOwl:hasDbXref OMIM:607634 semapv:UnspecifiedMatching DOID:0110937 autosomal dominant osteopetrosis 1 oboInOwl:hasDbXref ORDO:2783 semapv:UnspecifiedMatching DOID:0110937 autosomal dominant osteopetrosis 1 oboInOwl:hasDbXref UMLS:C1843330 semapv:UnspecifiedMatching -DOID:0110937 autosomal dominant osteopetrosis 1 skos:exactMatch OMIM:607634 semapv:UnspecifiedMatching DOID:0110938 autosomal dominant osteopetrosis 2 oboInOwl:hasDbXref GARD:383 semapv:UnspecifiedMatching DOID:0110938 autosomal dominant osteopetrosis 2 oboInOwl:hasDbXref MESH:D010022 semapv:UnspecifiedMatching -DOID:0110938 autosomal dominant osteopetrosis 2 oboInOwl:hasDbXref OMIM:166600 semapv:UnspecifiedMatching DOID:0110938 autosomal dominant osteopetrosis 2 oboInOwl:hasDbXref ORDO:53 semapv:UnspecifiedMatching DOID:0110938 autosomal dominant osteopetrosis 2 oboInOwl:hasDbXref UMLS:C3179239 semapv:UnspecifiedMatching -DOID:0110938 autosomal dominant osteopetrosis 2 skos:exactMatch OMIM:166600 semapv:UnspecifiedMatching DOID:0110939 autosomal recessive osteopetrosis 5 oboInOwl:hasDbXref GARD:4153 semapv:UnspecifiedMatching -DOID:0110939 autosomal recessive osteopetrosis 5 oboInOwl:hasDbXref OMIM:259720 semapv:UnspecifiedMatching -DOID:0110939 autosomal recessive osteopetrosis 5 skos:exactMatch OMIM:259720 semapv:UnspecifiedMatching -DOID:0110940 autosomal recessive osteopetrosis 8 oboInOwl:hasDbXref OMIM:615085 semapv:UnspecifiedMatching -DOID:0110940 autosomal recessive osteopetrosis 8 skos:exactMatch OMIM:615085 semapv:UnspecifiedMatching DOID:0110941 autosomal recessive osteopetrosis 3 oboInOwl:hasDbXref GARD:4154 semapv:UnspecifiedMatching -DOID:0110941 autosomal recessive osteopetrosis 3 oboInOwl:hasDbXref OMIM:259730 semapv:UnspecifiedMatching -DOID:0110941 autosomal recessive osteopetrosis 3 skos:exactMatch OMIM:259730 semapv:UnspecifiedMatching DOID:0110942 autosomal recessive osteopetrosis 1 oboInOwl:hasDbXref GARD:2579 semapv:UnspecifiedMatching -DOID:0110942 autosomal recessive osteopetrosis 1 oboInOwl:hasDbXref OMIM:259700 semapv:UnspecifiedMatching -DOID:0110942 autosomal recessive osteopetrosis 1 skos:exactMatch OMIM:259700 semapv:UnspecifiedMatching DOID:0110943 autosomal recessive osteopetrosis 2 oboInOwl:hasDbXref GARD:4157 semapv:UnspecifiedMatching -DOID:0110943 autosomal recessive osteopetrosis 2 oboInOwl:hasDbXref OMIM:259710 semapv:UnspecifiedMatching -DOID:0110943 autosomal recessive osteopetrosis 2 skos:exactMatch OMIM:259710 semapv:UnspecifiedMatching DOID:0110944 autosomal recessive osteopetrosis 4 oboInOwl:hasDbXref GARD:5993 semapv:UnspecifiedMatching -DOID:0110944 autosomal recessive osteopetrosis 4 oboInOwl:hasDbXref OMIM:611490 semapv:UnspecifiedMatching -DOID:0110944 autosomal recessive osteopetrosis 4 skos:exactMatch OMIM:611490 semapv:UnspecifiedMatching DOID:0110945 autosomal recessive osteopetrosis 6 oboInOwl:hasDbXref GARD:4156 semapv:UnspecifiedMatching -DOID:0110945 autosomal recessive osteopetrosis 6 oboInOwl:hasDbXref OMIM:611497 semapv:UnspecifiedMatching -DOID:0110945 autosomal recessive osteopetrosis 6 skos:exactMatch OMIM:611497 semapv:UnspecifiedMatching DOID:0110946 autosomal recessive osteopetrosis 7 oboInOwl:hasDbXref GARD:10106 semapv:UnspecifiedMatching DOID:0110946 autosomal recessive osteopetrosis 7 oboInOwl:hasDbXref ICD10CM:Q78.2 semapv:UnspecifiedMatching -DOID:0110946 autosomal recessive osteopetrosis 7 oboInOwl:hasDbXref OMIM:612301 semapv:UnspecifiedMatching DOID:0110946 autosomal recessive osteopetrosis 7 oboInOwl:hasDbXref ORDO:178389 semapv:UnspecifiedMatching -DOID:0110946 autosomal recessive osteopetrosis 7 skos:exactMatch OMIM:612301 semapv:UnspecifiedMatching DOID:0110947 Waardenburg syndrome type 2B oboInOwl:hasDbXref GARD:5522 semapv:UnspecifiedMatching DOID:0110947 Waardenburg syndrome type 2B oboInOwl:hasDbXref MESH:C536465 semapv:UnspecifiedMatching -DOID:0110947 Waardenburg syndrome type 2B oboInOwl:hasDbXref OMIM:600193 semapv:UnspecifiedMatching -DOID:0110947 Waardenburg syndrome type 2B skos:exactMatch OMIM:600193 semapv:UnspecifiedMatching DOID:0110948 Waardenburg syndrome type 1 oboInOwl:hasDbXref MESH:D014849 semapv:UnspecifiedMatching DOID:0110948 Waardenburg syndrome type 1 oboInOwl:hasDbXref NCI:C75008 semapv:UnspecifiedMatching -DOID:0110948 Waardenburg syndrome type 1 oboInOwl:hasDbXref OMIM:193500 semapv:UnspecifiedMatching DOID:0110948 Waardenburg syndrome type 1 oboInOwl:hasDbXref ORDO:894 semapv:UnspecifiedMatching DOID:0110948 Waardenburg syndrome type 1 oboInOwl:hasDbXref UMLS:C1847800 semapv:UnspecifiedMatching -DOID:0110948 Waardenburg syndrome type 1 skos:exactMatch OMIM:193500 semapv:UnspecifiedMatching DOID:0110949 Waardenburg syndrome type 3 oboInOwl:hasDbXref GARD:5523 semapv:UnspecifiedMatching DOID:0110949 Waardenburg syndrome type 3 oboInOwl:hasDbXref ICD10CM:E70.3 semapv:UnspecifiedMatching -DOID:0110949 Waardenburg syndrome type 3 oboInOwl:hasDbXref OMIM:148820 semapv:UnspecifiedMatching DOID:0110949 Waardenburg syndrome type 3 oboInOwl:hasDbXref ORDO:896 semapv:UnspecifiedMatching -DOID:0110949 Waardenburg syndrome type 3 skos:exactMatch OMIM:148820 semapv:UnspecifiedMatching DOID:0110950 Waardenburg syndrome type 2A oboInOwl:hasDbXref GARD:5521 semapv:UnspecifiedMatching DOID:0110950 Waardenburg syndrome type 2A oboInOwl:hasDbXref MESH:C536464 semapv:UnspecifiedMatching -DOID:0110950 Waardenburg syndrome type 2A oboInOwl:hasDbXref OMIM:193510 semapv:UnspecifiedMatching -DOID:0110950 Waardenburg syndrome type 2A skos:exactMatch OMIM:193510 semapv:UnspecifiedMatching -DOID:0110951 Waardenburg syndrome type 2C oboInOwl:hasDbXref OMIM:606662 semapv:UnspecifiedMatching -DOID:0110951 Waardenburg syndrome type 2C skos:exactMatch OMIM:606662 semapv:UnspecifiedMatching -DOID:0110952 obsolete Waardenburg syndrome type 2D oboInOwl:hasDbXref OMIM:608890 semapv:UnspecifiedMatching -DOID:0110953 Waardenburg syndrome type 4A oboInOwl:hasDbXref OMIM:277580 semapv:UnspecifiedMatching -DOID:0110953 Waardenburg syndrome type 4A skos:exactMatch OMIM:277580 semapv:UnspecifiedMatching -DOID:0110954 Waardenburg syndrome type 4B oboInOwl:hasDbXref OMIM:613265 semapv:UnspecifiedMatching -DOID:0110954 Waardenburg syndrome type 4B skos:exactMatch OMIM:613265 semapv:UnspecifiedMatching -DOID:0110955 Waardenburg syndrome type 4C oboInOwl:hasDbXref OMIM:613266 semapv:UnspecifiedMatching -DOID:0110955 Waardenburg syndrome type 4C skos:exactMatch OMIM:613266 semapv:UnspecifiedMatching -DOID:0110956 Waardenburg syndrome type 2E oboInOwl:hasDbXref OMIM:611584 semapv:UnspecifiedMatching -DOID:0110956 Waardenburg syndrome type 2E skos:exactMatch OMIM:611584 semapv:UnspecifiedMatching DOID:0110957 Gaucher's disease type I oboInOwl:hasDbXref ICD10CM:E75.2 semapv:UnspecifiedMatching -DOID:0110957 Gaucher's disease type I oboInOwl:hasDbXref OMIM:230800 semapv:UnspecifiedMatching DOID:0110957 Gaucher's disease type I oboInOwl:hasDbXref ORDO:77259 semapv:UnspecifiedMatching -DOID:0110957 Gaucher's disease type I skos:exactMatch OMIM:230800 semapv:UnspecifiedMatching DOID:0110958 Gaucher's disease type II oboInOwl:hasDbXref ICD10CM:E75.2 semapv:UnspecifiedMatching -DOID:0110958 Gaucher's disease type II oboInOwl:hasDbXref OMIM:230900 semapv:UnspecifiedMatching DOID:0110958 Gaucher's disease type II oboInOwl:hasDbXref ORDO:77260 semapv:UnspecifiedMatching -DOID:0110958 Gaucher's disease type II skos:exactMatch OMIM:230900 semapv:UnspecifiedMatching DOID:0110959 Gaucher's disease type III oboInOwl:hasDbXref ICD10CM:E75.2 semapv:UnspecifiedMatching -DOID:0110959 Gaucher's disease type III oboInOwl:hasDbXref OMIM:231000 semapv:UnspecifiedMatching DOID:0110959 Gaucher's disease type III oboInOwl:hasDbXref ORDO:77261 semapv:UnspecifiedMatching -DOID:0110959 Gaucher's disease type III skos:exactMatch OMIM:231000 semapv:UnspecifiedMatching DOID:0110960 Gaucher's disease perinatal lethal oboInOwl:hasDbXref ICD10CM:E75.2 semapv:UnspecifiedMatching -DOID:0110960 Gaucher's disease perinatal lethal oboInOwl:hasDbXref OMIM:608013 semapv:UnspecifiedMatching DOID:0110960 Gaucher's disease perinatal lethal oboInOwl:hasDbXref ORDO:85212 semapv:UnspecifiedMatching -DOID:0110960 Gaucher's disease perinatal lethal skos:exactMatch OMIM:608013 semapv:UnspecifiedMatching DOID:0110961 atypical Gaucher's disease due to saposin c deficiency oboInOwl:hasDbXref ICD10CM:E75.2 semapv:UnspecifiedMatching -DOID:0110961 atypical Gaucher's disease due to saposin c deficiency oboInOwl:hasDbXref OMIM:610539 semapv:UnspecifiedMatching DOID:0110961 atypical Gaucher's disease due to saposin c deficiency oboInOwl:hasDbXref ORDO:309252 semapv:UnspecifiedMatching -DOID:0110961 atypical Gaucher's disease due to saposin c deficiency skos:exactMatch OMIM:610539 semapv:UnspecifiedMatching DOID:0110962 brachydactyly-preaxial hallux varus syndrome oboInOwl:hasDbXref ICD10CM:Q73.8 semapv:UnspecifiedMatching -DOID:0110962 brachydactyly-preaxial hallux varus syndrome oboInOwl:hasDbXref OMIM:112450 semapv:UnspecifiedMatching DOID:0110962 brachydactyly-preaxial hallux varus syndrome oboInOwl:hasDbXref ORDO:1278 semapv:UnspecifiedMatching -DOID:0110962 brachydactyly-preaxial hallux varus syndrome skos:exactMatch OMIM:112450 semapv:UnspecifiedMatching DOID:0110963 Ballard syndrome oboInOwl:hasDbXref ICD10CM:Q73.8 semapv:UnspecifiedMatching -DOID:0110963 Ballard syndrome oboInOwl:hasDbXref OMIM:112440 semapv:UnspecifiedMatching DOID:0110963 Ballard syndrome oboInOwl:hasDbXref ORDO:93395 semapv:UnspecifiedMatching -DOID:0110963 Ballard syndrome skos:exactMatch OMIM:112440 semapv:UnspecifiedMatching DOID:0110964 brachydactyly type A1 oboInOwl:hasDbXref GARD:978 semapv:UnspecifiedMatching DOID:0110964 brachydactyly type A1 oboInOwl:hasDbXref MESH:C537088 semapv:UnspecifiedMatching -DOID:0110964 brachydactyly type A1 oboInOwl:hasDbXref OMIM:112500 semapv:UnspecifiedMatching DOID:0110964 brachydactyly type A1 oboInOwl:hasDbXref ORDO:93388 semapv:UnspecifiedMatching -DOID:0110964 brachydactyly type A1 skos:exactMatch OMIM:112500 semapv:UnspecifiedMatching DOID:0110965 brachydactyly type A2 oboInOwl:hasDbXref GARD:979 semapv:UnspecifiedMatching DOID:0110965 brachydactyly type A2 oboInOwl:hasDbXref MESH:C537089 semapv:UnspecifiedMatching -DOID:0110965 brachydactyly type A2 oboInOwl:hasDbXref OMIM:112600 semapv:UnspecifiedMatching DOID:0110965 brachydactyly type A2 oboInOwl:hasDbXref ORDO:93396 semapv:UnspecifiedMatching DOID:0110965 brachydactyly type A2 oboInOwl:hasDbXref UMLS:C1832702 semapv:UnspecifiedMatching -DOID:0110965 brachydactyly type A2 skos:exactMatch OMIM:112600 semapv:UnspecifiedMatching DOID:0110966 brachydactyly type A3 oboInOwl:hasDbXref GARD:963 semapv:UnspecifiedMatching DOID:0110966 brachydactyly type A3 oboInOwl:hasDbXref MESH:C537090 semapv:UnspecifiedMatching -DOID:0110966 brachydactyly type A3 oboInOwl:hasDbXref OMIM:112700 semapv:UnspecifiedMatching -DOID:0110966 brachydactyly type A3 skos:exactMatch OMIM:112700 semapv:UnspecifiedMatching DOID:0110967 brachydactyly type A4 oboInOwl:hasDbXref GARD:990 semapv:UnspecifiedMatching DOID:0110967 brachydactyly type A4 oboInOwl:hasDbXref ICD10CM:Q73.8 semapv:UnspecifiedMatching -DOID:0110967 brachydactyly type A4 oboInOwl:hasDbXref OMIM:112800 semapv:UnspecifiedMatching DOID:0110967 brachydactyly type A4 oboInOwl:hasDbXref ORDO:93394 semapv:UnspecifiedMatching -DOID:0110967 brachydactyly type A4 skos:exactMatch OMIM:112800 semapv:UnspecifiedMatching DOID:0110968 brachydactyly type A6 oboInOwl:hasDbXref GARD:983 semapv:UnspecifiedMatching DOID:0110968 brachydactyly type A6 oboInOwl:hasDbXref MESH:C537092 semapv:UnspecifiedMatching -DOID:0110968 brachydactyly type A6 oboInOwl:hasDbXref OMIM:112910 semapv:UnspecifiedMatching DOID:0110968 brachydactyly type A6 oboInOwl:hasDbXref ORDO:93382 semapv:UnspecifiedMatching DOID:0110968 brachydactyly type A6 oboInOwl:hasDbXref UMLS:C1862130 semapv:UnspecifiedMatching -DOID:0110968 brachydactyly type A6 skos:exactMatch OMIM:112910 semapv:UnspecifiedMatching -DOID:0110969 brachydactyly type B1 oboInOwl:hasDbXref OMIM:113000 semapv:UnspecifiedMatching -DOID:0110969 brachydactyly type B1 skos:exactMatch OMIM:113000 semapv:UnspecifiedMatching DOID:0110970 brachydactyly type C oboInOwl:hasDbXref GARD:986 semapv:UnspecifiedMatching DOID:0110970 brachydactyly type C oboInOwl:hasDbXref MESH:C537093 semapv:UnspecifiedMatching -DOID:0110970 brachydactyly type C oboInOwl:hasDbXref OMIM:113100 semapv:UnspecifiedMatching DOID:0110970 brachydactyly type C oboInOwl:hasDbXref ORDO:93384 semapv:UnspecifiedMatching DOID:0110970 brachydactyly type C oboInOwl:hasDbXref UMLS:C1300268 semapv:UnspecifiedMatching DOID:0110970 brachydactyly type C oboInOwl:hasDbXref UMLS:C1862103 semapv:UnspecifiedMatching -DOID:0110970 brachydactyly type C skos:exactMatch OMIM:113100 semapv:UnspecifiedMatching -DOID:0110971 brachydactyly type D oboInOwl:hasDbXref OMIM:113200 semapv:UnspecifiedMatching -DOID:0110971 brachydactyly type D skos:exactMatch OMIM:113200 semapv:UnspecifiedMatching -DOID:0110972 brachydactyly type E1 oboInOwl:hasDbXref OMIM:113300 semapv:UnspecifiedMatching -DOID:0110972 brachydactyly type E1 skos:exactMatch OMIM:113300 semapv:UnspecifiedMatching DOID:0110973 Mononen-Karnes-Senac syndrome oboInOwl:hasDbXref MESH:C535914 semapv:UnspecifiedMatching -DOID:0110973 Mononen-Karnes-Senac syndrome oboInOwl:hasDbXref OMIM:301940 semapv:UnspecifiedMatching DOID:0110973 Mononen-Karnes-Senac syndrome oboInOwl:hasDbXref ORDO:2565 semapv:UnspecifiedMatching DOID:0110973 Mononen-Karnes-Senac syndrome oboInOwl:hasDbXref UMLS:C2931060 semapv:UnspecifiedMatching -DOID:0110973 Mononen-Karnes-Senac syndrome skos:exactMatch OMIM:301940 semapv:UnspecifiedMatching -DOID:0110974 brachydactyly type A1B oboInOwl:hasDbXref OMIM:607004 semapv:UnspecifiedMatching -DOID:0110974 brachydactyly type A1B skos:exactMatch OMIM:607004 semapv:UnspecifiedMatching DOID:0110975 brachydactyly type B2 oboInOwl:hasDbXref ICD10CM:Q73.8 semapv:UnspecifiedMatching -DOID:0110975 brachydactyly type B2 oboInOwl:hasDbXref OMIM:611377 semapv:UnspecifiedMatching DOID:0110975 brachydactyly type B2 oboInOwl:hasDbXref ORDO:140908 semapv:UnspecifiedMatching -DOID:0110975 brachydactyly type B2 skos:exactMatch OMIM:611377 semapv:UnspecifiedMatching -DOID:0110976 brachydactyly type E2 oboInOwl:hasDbXref OMIM:613382 semapv:UnspecifiedMatching -DOID:0110976 brachydactyly type E2 skos:exactMatch OMIM:613382 semapv:UnspecifiedMatching -DOID:0110977 brachydactyly type A1C oboInOwl:hasDbXref OMIM:615072 semapv:UnspecifiedMatching -DOID:0110977 brachydactyly type A1C skos:exactMatch OMIM:615072 semapv:UnspecifiedMatching -DOID:0110978 brachydactyly type A1D oboInOwl:hasDbXref OMIM:616849 semapv:UnspecifiedMatching -DOID:0110978 brachydactyly type A1D skos:exactMatch OMIM:616849 semapv:UnspecifiedMatching DOID:0110979 Sugarman brachydactyly oboInOwl:hasDbXref GARD:5058 semapv:UnspecifiedMatching -DOID:0110979 Sugarman brachydactyly oboInOwl:hasDbXref OMIM:272150 semapv:UnspecifiedMatching DOID:0110979 Sugarman brachydactyly oboInOwl:hasDbXref ORDO:498602 semapv:UnspecifiedMatching -DOID:0110979 Sugarman brachydactyly skos:exactMatch OMIM:272150 semapv:UnspecifiedMatching -DOID:0110980 Joubert syndrome 1 oboInOwl:hasDbXref OMIM:213300 semapv:UnspecifiedMatching -DOID:0110980 Joubert syndrome 1 skos:exactMatch OMIM:213300 semapv:UnspecifiedMatching DOID:0110981 Joubert syndrome 10 oboInOwl:hasDbXref MESH:C567582 semapv:UnspecifiedMatching -DOID:0110981 Joubert syndrome 10 oboInOwl:hasDbXref OMIM:300804 semapv:UnspecifiedMatching -DOID:0110981 Joubert syndrome 10 skos:exactMatch OMIM:300804 semapv:UnspecifiedMatching -DOID:0110982 Joubert syndrome 13 oboInOwl:hasDbXref OMIM:614173 semapv:UnspecifiedMatching -DOID:0110982 Joubert syndrome 13 skos:exactMatch OMIM:614173 semapv:UnspecifiedMatching -DOID:0110983 Joubert syndrome 14 oboInOwl:hasDbXref OMIM:614424 semapv:UnspecifiedMatching -DOID:0110983 Joubert syndrome 14 skos:exactMatch OMIM:614424 semapv:UnspecifiedMatching -DOID:0110984 Joubert syndrome 15 oboInOwl:hasDbXref OMIM:614464 semapv:UnspecifiedMatching -DOID:0110984 Joubert syndrome 15 skos:exactMatch OMIM:614464 semapv:UnspecifiedMatching -DOID:0110985 Joubert syndrome 16 oboInOwl:hasDbXref OMIM:614465 semapv:UnspecifiedMatching -DOID:0110985 Joubert syndrome 16 skos:exactMatch OMIM:614465 semapv:UnspecifiedMatching -DOID:0110986 Joubert syndrome 17 oboInOwl:hasDbXref OMIM:614615 semapv:UnspecifiedMatching -DOID:0110986 Joubert syndrome 17 skos:exactMatch OMIM:614615 semapv:UnspecifiedMatching -DOID:0110987 Joubert syndrome 18 oboInOwl:hasDbXref OMIM:614815 semapv:UnspecifiedMatching -DOID:0110987 Joubert syndrome 18 skos:exactMatch OMIM:614815 semapv:UnspecifiedMatching DOID:0110988 Joubert syndrome 2 oboInOwl:hasDbXref GARD:10167 semapv:UnspecifiedMatching DOID:0110988 Joubert syndrome 2 oboInOwl:hasDbXref MESH:C536294 semapv:UnspecifiedMatching -DOID:0110988 Joubert syndrome 2 oboInOwl:hasDbXref OMIM:608091 semapv:UnspecifiedMatching -DOID:0110988 Joubert syndrome 2 skos:exactMatch OMIM:608091 semapv:UnspecifiedMatching -DOID:0110989 Joubert syndrome 20 oboInOwl:hasDbXref OMIM:614970 semapv:UnspecifiedMatching -DOID:0110989 Joubert syndrome 20 skos:exactMatch OMIM:614970 semapv:UnspecifiedMatching -DOID:0110990 Joubert syndrome 21 oboInOwl:hasDbXref OMIM:615636 semapv:UnspecifiedMatching -DOID:0110990 Joubert syndrome 21 skos:exactMatch OMIM:615636 semapv:UnspecifiedMatching -DOID:0110991 Joubert syndrome 22 oboInOwl:hasDbXref OMIM:615665 semapv:UnspecifiedMatching -DOID:0110991 Joubert syndrome 22 skos:exactMatch OMIM:615665 semapv:UnspecifiedMatching -DOID:0110992 Joubert syndrome 23 oboInOwl:hasDbXref OMIM:616490 semapv:UnspecifiedMatching -DOID:0110992 Joubert syndrome 23 skos:exactMatch OMIM:616490 semapv:UnspecifiedMatching -DOID:0110993 Joubert syndrome 24 oboInOwl:hasDbXref OMIM:616654 semapv:UnspecifiedMatching -DOID:0110993 Joubert syndrome 24 skos:exactMatch OMIM:616654 semapv:UnspecifiedMatching -DOID:0110994 Joubert syndrome 25 oboInOwl:hasDbXref OMIM:616781 semapv:UnspecifiedMatching -DOID:0110994 Joubert syndrome 25 skos:exactMatch OMIM:616781 semapv:UnspecifiedMatching -DOID:0110995 Joubert syndrome 26 oboInOwl:hasDbXref OMIM:616784 semapv:UnspecifiedMatching -DOID:0110995 Joubert syndrome 26 skos:exactMatch OMIM:616784 semapv:UnspecifiedMatching -DOID:0110996 Joubert syndrome 27 oboInOwl:hasDbXref OMIM:617120 semapv:UnspecifiedMatching -DOID:0110996 Joubert syndrome 27 skos:exactMatch OMIM:617120 semapv:UnspecifiedMatching -DOID:0110997 Joubert syndrome 28 oboInOwl:hasDbXref OMIM:617121 semapv:UnspecifiedMatching -DOID:0110997 Joubert syndrome 28 skos:exactMatch OMIM:617121 semapv:UnspecifiedMatching DOID:0110998 Joubert syndrome 3 oboInOwl:hasDbXref MESH:C536295 semapv:UnspecifiedMatching -DOID:0110998 Joubert syndrome 3 oboInOwl:hasDbXref OMIM:608629 semapv:UnspecifiedMatching -DOID:0110998 Joubert syndrome 3 skos:exactMatch OMIM:608629 semapv:UnspecifiedMatching DOID:0110999 Joubert syndrome 4 oboInOwl:hasDbXref GARD:10169 semapv:UnspecifiedMatching DOID:0110999 Joubert syndrome 4 oboInOwl:hasDbXref MESH:C536296 semapv:UnspecifiedMatching -DOID:0110999 Joubert syndrome 4 oboInOwl:hasDbXref OMIM:609583 semapv:UnspecifiedMatching -DOID:0110999 Joubert syndrome 4 skos:exactMatch OMIM:609583 semapv:UnspecifiedMatching DOID:0111000 Joubert syndrome 5 oboInOwl:hasDbXref MESH:C537688 semapv:UnspecifiedMatching -DOID:0111000 Joubert syndrome 5 oboInOwl:hasDbXref OMIM:610188 semapv:UnspecifiedMatching -DOID:0111000 Joubert syndrome 5 skos:exactMatch OMIM:610188 semapv:UnspecifiedMatching DOID:0111001 Joubert syndrome 6 oboInOwl:hasDbXref MESH:C537689 semapv:UnspecifiedMatching -DOID:0111001 Joubert syndrome 6 oboInOwl:hasDbXref OMIM:610688 semapv:UnspecifiedMatching -DOID:0111001 Joubert syndrome 6 skos:exactMatch OMIM:610688 semapv:UnspecifiedMatching DOID:0111002 Joubert syndrome 7 oboInOwl:hasDbXref MESH:C566916 semapv:UnspecifiedMatching -DOID:0111002 Joubert syndrome 7 oboInOwl:hasDbXref OMIM:611560 semapv:UnspecifiedMatching -DOID:0111002 Joubert syndrome 7 skos:exactMatch OMIM:611560 semapv:UnspecifiedMatching DOID:0111003 Joubert syndrome 8 oboInOwl:hasDbXref MESH:C567358 semapv:UnspecifiedMatching -DOID:0111003 Joubert syndrome 8 oboInOwl:hasDbXref OMIM:612291 semapv:UnspecifiedMatching -DOID:0111003 Joubert syndrome 8 skos:exactMatch OMIM:612291 semapv:UnspecifiedMatching DOID:0111004 Joubert syndrome 9 oboInOwl:hasDbXref MESH:C567364 semapv:UnspecifiedMatching -DOID:0111004 Joubert syndrome 9 oboInOwl:hasDbXref OMIM:612285 semapv:UnspecifiedMatching -DOID:0111004 Joubert syndrome 9 skos:exactMatch OMIM:612285 semapv:UnspecifiedMatching DOID:0111005 cone-rod dystrophy 2 oboInOwl:hasDbXref GARD:6145 semapv:UnspecifiedMatching -DOID:0111005 cone-rod dystrophy 2 oboInOwl:hasDbXref OMIM:120970 semapv:UnspecifiedMatching -DOID:0111005 cone-rod dystrophy 2 skos:exactMatch OMIM:120970 semapv:UnspecifiedMatching -DOID:0111006 X-linked cone-rod dystrophy 2 oboInOwl:hasDbXref OMIM:300085 semapv:UnspecifiedMatching -DOID:0111006 X-linked cone-rod dystrophy 2 skos:exactMatch OMIM:300085 semapv:UnspecifiedMatching -DOID:0111007 X-linked cone-rod dystrophy 3 oboInOwl:hasDbXref OMIM:300476 semapv:UnspecifiedMatching -DOID:0111007 X-linked cone-rod dystrophy 3 skos:exactMatch OMIM:300476 semapv:UnspecifiedMatching -DOID:0111008 X-linked cone-rod dystrophy 1 oboInOwl:hasDbXref OMIM:304020 semapv:UnspecifiedMatching -DOID:0111008 X-linked cone-rod dystrophy 1 skos:exactMatch OMIM:304020 semapv:UnspecifiedMatching DOID:0111009 cone-rod dystrophy 1 oboInOwl:hasDbXref GARD:10651 semapv:UnspecifiedMatching DOID:0111009 cone-rod dystrophy 1 oboInOwl:hasDbXref MESH:C563469 semapv:UnspecifiedMatching -DOID:0111009 cone-rod dystrophy 1 oboInOwl:hasDbXref OMIM:600624 semapv:UnspecifiedMatching -DOID:0111009 cone-rod dystrophy 1 skos:exactMatch OMIM:600624 semapv:UnspecifiedMatching DOID:0111010 cone-rod dystrophy 5 oboInOwl:hasDbXref MESH:C563415 semapv:UnspecifiedMatching -DOID:0111010 cone-rod dystrophy 5 oboInOwl:hasDbXref OMIM:600977 semapv:UnspecifiedMatching -DOID:0111010 cone-rod dystrophy 5 skos:exactMatch OMIM:600977 semapv:UnspecifiedMatching DOID:0111011 cone-rod dystrophy 6 oboInOwl:hasDbXref GARD:10656 semapv:UnspecifiedMatching -DOID:0111011 cone-rod dystrophy 6 oboInOwl:hasDbXref OMIM:601777 semapv:UnspecifiedMatching -DOID:0111011 cone-rod dystrophy 6 skos:exactMatch OMIM:601777 semapv:UnspecifiedMatching DOID:0111012 cone-rod dystrophy 7 oboInOwl:hasDbXref MESH:C566350 semapv:UnspecifiedMatching -DOID:0111012 cone-rod dystrophy 7 oboInOwl:hasDbXref OMIM:603649 semapv:UnspecifiedMatching -DOID:0111012 cone-rod dystrophy 7 skos:exactMatch OMIM:603649 semapv:UnspecifiedMatching DOID:0111013 cone-rod dystrophy 3 oboInOwl:hasDbXref GARD:10653 semapv:UnspecifiedMatching DOID:0111013 cone-rod dystrophy 3 oboInOwl:hasDbXref MESH:C565827 semapv:UnspecifiedMatching -DOID:0111013 cone-rod dystrophy 3 oboInOwl:hasDbXref OMIM:604116 semapv:UnspecifiedMatching -DOID:0111013 cone-rod dystrophy 3 skos:exactMatch OMIM:604116 semapv:UnspecifiedMatching DOID:0111014 cone-rod dystrophy 8 oboInOwl:hasDbXref MESH:C565322 semapv:UnspecifiedMatching -DOID:0111014 cone-rod dystrophy 8 oboInOwl:hasDbXref OMIM:605549 semapv:UnspecifiedMatching -DOID:0111014 cone-rod dystrophy 8 skos:exactMatch OMIM:605549 semapv:UnspecifiedMatching -DOID:0111015 Newfoundland cone-rod dystrophy oboInOwl:hasDbXref OMIM:607476 semapv:UnspecifiedMatching -DOID:0111015 Newfoundland cone-rod dystrophy skos:exactMatch OMIM:607476 semapv:UnspecifiedMatching DOID:0111016 cone-rod dystrophy 13 oboInOwl:hasDbXref MESH:C567698 semapv:UnspecifiedMatching -DOID:0111016 cone-rod dystrophy 13 oboInOwl:hasDbXref OMIM:608194 semapv:UnspecifiedMatching -DOID:0111016 cone-rod dystrophy 13 skos:exactMatch OMIM:608194 semapv:UnspecifiedMatching DOID:0111017 cone-rod dystrophy 10 oboInOwl:hasDbXref MESH:C564597 semapv:UnspecifiedMatching -DOID:0111017 cone-rod dystrophy 10 oboInOwl:hasDbXref OMIM:610283 semapv:UnspecifiedMatching -DOID:0111017 cone-rod dystrophy 10 skos:exactMatch OMIM:610283 semapv:UnspecifiedMatching DOID:0111018 cone-rod dystrophy 11 oboInOwl:hasDbXref MESH:C563671 semapv:UnspecifiedMatching -DOID:0111018 cone-rod dystrophy 11 oboInOwl:hasDbXref OMIM:610381 semapv:UnspecifiedMatching -DOID:0111018 cone-rod dystrophy 11 skos:exactMatch OMIM:610381 semapv:UnspecifiedMatching DOID:0111019 cone-rod dystrophy 12 oboInOwl:hasDbXref MESH:C567206 semapv:UnspecifiedMatching -DOID:0111019 cone-rod dystrophy 12 oboInOwl:hasDbXref OMIM:612657 semapv:UnspecifiedMatching -DOID:0111019 cone-rod dystrophy 12 skos:exactMatch OMIM:612657 semapv:UnspecifiedMatching -DOID:0111020 cone-rod dystrophy 9 oboInOwl:hasDbXref OMIM:612775 semapv:UnspecifiedMatching -DOID:0111020 cone-rod dystrophy 9 skos:exactMatch OMIM:612775 semapv:UnspecifiedMatching -DOID:0111021 cone-rod dystrophy 15 oboInOwl:hasDbXref OMIM:613660 semapv:UnspecifiedMatching -DOID:0111021 cone-rod dystrophy 15 skos:exactMatch OMIM:613660 semapv:UnspecifiedMatching -DOID:0111022 cone-rod dystrophy 16 oboInOwl:hasDbXref OMIM:614500 semapv:UnspecifiedMatching -DOID:0111022 cone-rod dystrophy 16 skos:exactMatch OMIM:614500 semapv:UnspecifiedMatching -DOID:0111023 cone-rod dystrophy 17 oboInOwl:hasDbXref OMIM:615163 semapv:UnspecifiedMatching -DOID:0111023 cone-rod dystrophy 17 skos:exactMatch OMIM:615163 semapv:UnspecifiedMatching -DOID:0111024 cone-rod dystrophy 18 oboInOwl:hasDbXref OMIM:615374 semapv:UnspecifiedMatching -DOID:0111024 cone-rod dystrophy 18 skos:exactMatch OMIM:615374 semapv:UnspecifiedMatching -DOID:0111025 cone-rod dystrophy 19 oboInOwl:hasDbXref OMIM:615860 semapv:UnspecifiedMatching -DOID:0111025 cone-rod dystrophy 19 skos:exactMatch OMIM:615860 semapv:UnspecifiedMatching -DOID:0111026 cone-rod dystrophy 20 oboInOwl:hasDbXref OMIM:615973 semapv:UnspecifiedMatching -DOID:0111026 cone-rod dystrophy 20 skos:exactMatch OMIM:615973 semapv:UnspecifiedMatching -DOID:0111027 hemochromatosis type 2A oboInOwl:hasDbXref OMIM:602390 semapv:UnspecifiedMatching -DOID:0111027 hemochromatosis type 2A skos:exactMatch OMIM:602390 semapv:UnspecifiedMatching DOID:0111028 hemochromatosis type 4 oboInOwl:hasDbXref GARD:10094 semapv:UnspecifiedMatching DOID:0111028 hemochromatosis type 4 oboInOwl:hasDbXref MESH:C537249 semapv:UnspecifiedMatching -DOID:0111028 hemochromatosis type 4 oboInOwl:hasDbXref OMIM:606069 semapv:UnspecifiedMatching DOID:0111028 hemochromatosis type 4 oboInOwl:hasDbXref ORDO:139491 semapv:UnspecifiedMatching DOID:0111028 hemochromatosis type 4 oboInOwl:hasDbXref UMLS:C1853733 semapv:UnspecifiedMatching -DOID:0111028 hemochromatosis type 4 skos:exactMatch OMIM:606069 semapv:UnspecifiedMatching DOID:0111029 hemochromatosis type 1 oboInOwl:hasDbXref GARD:10417 semapv:UnspecifiedMatching DOID:0111029 hemochromatosis type 1 oboInOwl:hasDbXref ICD10CM:E83.1 semapv:UnspecifiedMatching -DOID:0111029 hemochromatosis type 1 oboInOwl:hasDbXref OMIM:235200 semapv:UnspecifiedMatching DOID:0111029 hemochromatosis type 1 oboInOwl:hasDbXref ORDO:465508 semapv:UnspecifiedMatching -DOID:0111029 hemochromatosis type 1 skos:exactMatch OMIM:235200 semapv:UnspecifiedMatching DOID:0111030 hemochromatosis type 3 oboInOwl:hasDbXref GARD:10093 semapv:UnspecifiedMatching DOID:0111030 hemochromatosis type 3 oboInOwl:hasDbXref MESH:C537248 semapv:UnspecifiedMatching -DOID:0111030 hemochromatosis type 3 oboInOwl:hasDbXref OMIM:604250 semapv:UnspecifiedMatching DOID:0111030 hemochromatosis type 3 oboInOwl:hasDbXref ORDO:225123 semapv:UnspecifiedMatching DOID:0111030 hemochromatosis type 3 oboInOwl:hasDbXref UMLS:C1858664 semapv:UnspecifiedMatching -DOID:0111030 hemochromatosis type 3 skos:exactMatch OMIM:604250 semapv:UnspecifiedMatching DOID:0111031 hemochromatosis type 5 oboInOwl:hasDbXref ICD10CM:E83.1 semapv:UnspecifiedMatching -DOID:0111031 hemochromatosis type 5 oboInOwl:hasDbXref OMIM:615517 semapv:UnspecifiedMatching DOID:0111031 hemochromatosis type 5 oboInOwl:hasDbXref ORDO:247790 semapv:UnspecifiedMatching -DOID:0111031 hemochromatosis type 5 skos:exactMatch OMIM:615517 semapv:UnspecifiedMatching -DOID:0111032 hemochromatosis type 2B oboInOwl:hasDbXref OMIM:613313 semapv:UnspecifiedMatching -DOID:0111032 hemochromatosis type 2B skos:exactMatch OMIM:613313 semapv:UnspecifiedMatching DOID:0111033 African iron overload oboInOwl:hasDbXref ICD10CM:E83.1 semapv:UnspecifiedMatching -DOID:0111033 African iron overload oboInOwl:hasDbXref OMIM:601195 semapv:UnspecifiedMatching DOID:0111033 African iron overload oboInOwl:hasDbXref ORDO:139507 semapv:UnspecifiedMatching -DOID:0111033 African iron overload skos:exactMatch OMIM:601195 semapv:UnspecifiedMatching DOID:0111034 hemochromatosis type 2 oboInOwl:hasDbXref GARD:10092 semapv:UnspecifiedMatching DOID:0111034 hemochromatosis type 2 oboInOwl:hasDbXref ICD10CM:E83.1 semapv:UnspecifiedMatching DOID:0111034 hemochromatosis type 2 oboInOwl:hasDbXref MESH:C537247 semapv:UnspecifiedMatching DOID:0111034 hemochromatosis type 2 oboInOwl:hasDbXref ORDO:79230 semapv:UnspecifiedMatching DOID:0111035 CADASIL 1 oboInOwl:hasDbXref ICD10CM:F01.1 semapv:UnspecifiedMatching -DOID:0111035 CADASIL 1 oboInOwl:hasDbXref OMIM:125310 semapv:UnspecifiedMatching -DOID:0111035 CADASIL 1 skos:exactMatch OMIM:125310 semapv:UnspecifiedMatching DOID:0111036 CADASIL 2 oboInOwl:hasDbXref ICD10CM:F01.1 semapv:UnspecifiedMatching -DOID:0111036 CADASIL 2 oboInOwl:hasDbXref OMIM:616779 semapv:UnspecifiedMatching -DOID:0111036 CADASIL 2 skos:exactMatch OMIM:616779 semapv:UnspecifiedMatching DOID:0111037 glycine N-methyltransferase deficiency oboInOwl:hasDbXref GARD:10764 semapv:UnspecifiedMatching DOID:0111037 glycine N-methyltransferase deficiency oboInOwl:hasDbXref ICD10CM:E72.1 semapv:UnspecifiedMatching -DOID:0111037 glycine N-methyltransferase deficiency oboInOwl:hasDbXref OMIM:606664 semapv:UnspecifiedMatching DOID:0111037 glycine N-methyltransferase deficiency oboInOwl:hasDbXref ORDO:289891 semapv:UnspecifiedMatching -DOID:0111037 glycine N-methyltransferase deficiency skos:exactMatch OMIM:606664 semapv:UnspecifiedMatching DOID:0111038 hypermethioninemia due to adenosine kinase deficiency oboInOwl:hasDbXref ICD10CM:E72.1 semapv:UnspecifiedMatching -DOID:0111038 hypermethioninemia due to adenosine kinase deficiency oboInOwl:hasDbXref OMIM:614300 semapv:UnspecifiedMatching DOID:0111038 hypermethioninemia due to adenosine kinase deficiency oboInOwl:hasDbXref ORDO:289290 semapv:UnspecifiedMatching -DOID:0111038 hypermethioninemia due to adenosine kinase deficiency skos:exactMatch OMIM:614300 semapv:UnspecifiedMatching DOID:0111039 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase oboInOwl:hasDbXref GARD:13177 semapv:UnspecifiedMatching DOID:0111039 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase oboInOwl:hasDbXref ICD10CM:E72.1 semapv:UnspecifiedMatching -DOID:0111039 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase oboInOwl:hasDbXref OMIM:613752 semapv:UnspecifiedMatching DOID:0111039 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase oboInOwl:hasDbXref ORDO:88618 semapv:UnspecifiedMatching -DOID:0111039 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase skos:exactMatch OMIM:613752 semapv:UnspecifiedMatching DOID:0111040 glycogen storage disease IXd oboInOwl:hasDbXref ICD10CM:E74.0 semapv:UnspecifiedMatching -DOID:0111040 glycogen storage disease IXd oboInOwl:hasDbXref OMIM:300559 semapv:UnspecifiedMatching DOID:0111040 glycogen storage disease IXd oboInOwl:hasDbXref ORDO:715 semapv:UnspecifiedMatching -DOID:0111040 glycogen storage disease IXd skos:exactMatch OMIM:300559 semapv:UnspecifiedMatching DOID:0111041 glycogen storage disease IXb oboInOwl:hasDbXref ICD10CM:E74.0 semapv:UnspecifiedMatching DOID:0111041 glycogen storage disease IXb oboInOwl:hasDbXref MESH:C563008 semapv:UnspecifiedMatching -DOID:0111041 glycogen storage disease IXb oboInOwl:hasDbXref OMIM:261750 semapv:UnspecifiedMatching DOID:0111041 glycogen storage disease IXb oboInOwl:hasDbXref ORDO:79240 semapv:UnspecifiedMatching -DOID:0111041 glycogen storage disease IXb skos:exactMatch OMIM:261750 semapv:UnspecifiedMatching DOID:0111042 glycogen storage disease IXa oboInOwl:hasDbXref ICD10CM:E74.0 semapv:UnspecifiedMatching -DOID:0111042 glycogen storage disease IXa oboInOwl:hasDbXref OMIM:306000 semapv:UnspecifiedMatching -DOID:0111042 glycogen storage disease IXa skos:exactMatch OMIM:306000 semapv:UnspecifiedMatching DOID:0111043 glycogen storage disease IXc oboInOwl:hasDbXref ICD10CM:E74.0 semapv:UnspecifiedMatching DOID:0111043 glycogen storage disease IXc oboInOwl:hasDbXref MESH:C567809 semapv:UnspecifiedMatching -DOID:0111043 glycogen storage disease IXc oboInOwl:hasDbXref OMIM:613027 semapv:UnspecifiedMatching -DOID:0111043 glycogen storage disease IXc skos:exactMatch OMIM:613027 semapv:UnspecifiedMatching DOID:0111044 gray platelet syndrome oboInOwl:hasDbXref GARD:2562 semapv:UnspecifiedMatching DOID:0111044 gray platelet syndrome oboInOwl:hasDbXref ICD10CM:D69.1 semapv:UnspecifiedMatching DOID:0111044 gray platelet syndrome oboInOwl:hasDbXref MESH:D055652 semapv:UnspecifiedMatching DOID:0111044 gray platelet syndrome oboInOwl:hasDbXref NCI:C84741 semapv:UnspecifiedMatching -DOID:0111044 gray platelet syndrome oboInOwl:hasDbXref OMIM:139090 semapv:UnspecifiedMatching DOID:0111044 gray platelet syndrome oboInOwl:hasDbXref ORDO:721 semapv:UnspecifiedMatching DOID:0111044 gray platelet syndrome oboInOwl:hasDbXref UMLS:C0272302 semapv:UnspecifiedMatching -DOID:0111044 gray platelet syndrome skos:exactMatch OMIM:139090 semapv:UnspecifiedMatching DOID:0111045 platelet-type bleeding disorder 9 oboInOwl:hasDbXref ICD10CM:D69.8 semapv:UnspecifiedMatching -DOID:0111045 platelet-type bleeding disorder 9 oboInOwl:hasDbXref OMIM:614200 semapv:UnspecifiedMatching DOID:0111045 platelet-type bleeding disorder 9 oboInOwl:hasDbXref ORDO:98886 semapv:UnspecifiedMatching -DOID:0111045 platelet-type bleeding disorder 9 skos:exactMatch OMIM:614200 semapv:UnspecifiedMatching -DOID:0111046 platelet-type bleeding disorder 10 oboInOwl:hasDbXref OMIM:608404 semapv:UnspecifiedMatching -DOID:0111046 platelet-type bleeding disorder 10 skos:exactMatch OMIM:608404 semapv:UnspecifiedMatching -DOID:0111047 platelet-type bleeding disorder 14 oboInOwl:hasDbXref OMIM:614158 semapv:UnspecifiedMatching -DOID:0111047 platelet-type bleeding disorder 14 skos:exactMatch OMIM:614158 semapv:UnspecifiedMatching DOID:0111048 platelet-type bleeding disorder 19 oboInOwl:hasDbXref ICD10CM:D69.4 semapv:UnspecifiedMatching -DOID:0111048 platelet-type bleeding disorder 19 oboInOwl:hasDbXref OMIM:616176 semapv:UnspecifiedMatching DOID:0111048 platelet-type bleeding disorder 19 oboInOwl:hasDbXref ORDO:438207 semapv:UnspecifiedMatching -DOID:0111048 platelet-type bleeding disorder 19 skos:exactMatch OMIM:616176 semapv:UnspecifiedMatching DOID:0111049 platelet-type bleeding disorder 17 oboInOwl:hasDbXref ICD10CM:D69.1 semapv:UnspecifiedMatching DOID:0111049 platelet-type bleeding disorder 17 oboInOwl:hasDbXref MESH:D055652 semapv:UnspecifiedMatching DOID:0111049 platelet-type bleeding disorder 17 oboInOwl:hasDbXref NCI:C84741 semapv:UnspecifiedMatching -DOID:0111049 platelet-type bleeding disorder 17 oboInOwl:hasDbXref OMIM:187900 semapv:UnspecifiedMatching DOID:0111049 platelet-type bleeding disorder 17 oboInOwl:hasDbXref UMLS:C0272302 semapv:UnspecifiedMatching -DOID:0111049 platelet-type bleeding disorder 17 skos:exactMatch OMIM:187900 semapv:UnspecifiedMatching DOID:0111050 Quebec platelet disorder oboInOwl:hasDbXref GARD:8345 semapv:UnspecifiedMatching DOID:0111050 Quebec platelet disorder oboInOwl:hasDbXref MESH:C536260 semapv:UnspecifiedMatching -DOID:0111050 Quebec platelet disorder oboInOwl:hasDbXref OMIM:601709 semapv:UnspecifiedMatching DOID:0111050 Quebec platelet disorder oboInOwl:hasDbXref ORDO:220436 semapv:UnspecifiedMatching DOID:0111050 Quebec platelet disorder oboInOwl:hasDbXref UMLS:C1866423 semapv:UnspecifiedMatching -DOID:0111050 Quebec platelet disorder skos:exactMatch OMIM:601709 semapv:UnspecifiedMatching DOID:0111051 platelet-type bleeding disorder 18 oboInOwl:hasDbXref ICD10CM:D69.1 semapv:UnspecifiedMatching -DOID:0111051 platelet-type bleeding disorder 18 oboInOwl:hasDbXref OMIM:615888 semapv:UnspecifiedMatching DOID:0111051 platelet-type bleeding disorder 18 oboInOwl:hasDbXref ORDO:420566 semapv:UnspecifiedMatching -DOID:0111051 platelet-type bleeding disorder 18 skos:exactMatch OMIM:615888 semapv:UnspecifiedMatching DOID:0111052 Scott syndrome oboInOwl:hasDbXref GARD:4777 semapv:UnspecifiedMatching DOID:0111052 Scott syndrome oboInOwl:hasDbXref MESH:C563120 semapv:UnspecifiedMatching -DOID:0111052 Scott syndrome oboInOwl:hasDbXref OMIM:262890 semapv:UnspecifiedMatching DOID:0111052 Scott syndrome oboInOwl:hasDbXref ORDO:806 semapv:UnspecifiedMatching DOID:0111052 Scott syndrome oboInOwl:hasDbXref UMLS:C0796149 semapv:UnspecifiedMatching -DOID:0111052 Scott syndrome skos:exactMatch OMIM:262890 semapv:UnspecifiedMatching -DOID:0111053 platelet-type bleeding disorder 15 oboInOwl:hasDbXref OMIM:615193 semapv:UnspecifiedMatching -DOID:0111053 platelet-type bleeding disorder 15 skos:exactMatch OMIM:615193 semapv:UnspecifiedMatching DOID:0111054 von Willebrand's disease 3 oboInOwl:hasDbXref ICD10CM:D68.03 semapv:UnspecifiedMatching DOID:0111054 von Willebrand's disease 3 oboInOwl:hasDbXref MESH:D056729 semapv:UnspecifiedMatching DOID:0111054 von Willebrand's disease 3 oboInOwl:hasDbXref NCI:C85213 semapv:UnspecifiedMatching -DOID:0111054 von Willebrand's disease 3 oboInOwl:hasDbXref OMIM:277480 semapv:UnspecifiedMatching DOID:0111054 von Willebrand's disease 3 oboInOwl:hasDbXref ORDO:166096 semapv:UnspecifiedMatching DOID:0111054 von Willebrand's disease 3 oboInOwl:hasDbXref UMLS:C1264041 semapv:UnspecifiedMatching -DOID:0111054 von Willebrand's disease 3 skos:exactMatch OMIM:277480 semapv:UnspecifiedMatching -DOID:0111055 platelet-type bleeding disorder 20 oboInOwl:hasDbXref OMIM:616913 semapv:UnspecifiedMatching DOID:0111055 platelet-type bleeding disorder 20 oboInOwl:hasDbXref ORDO:466806 semapv:UnspecifiedMatching -DOID:0111055 platelet-type bleeding disorder 20 skos:exactMatch OMIM:616913 semapv:UnspecifiedMatching DOID:0111056 platelet-type bleeding disorder 3 oboInOwl:hasDbXref ICD10CM:D69.8 semapv:UnspecifiedMatching -DOID:0111056 platelet-type bleeding disorder 3 oboInOwl:hasDbXref OMIM:177820 semapv:UnspecifiedMatching DOID:0111056 platelet-type bleeding disorder 3 oboInOwl:hasDbXref ORDO:52530 semapv:UnspecifiedMatching -DOID:0111056 platelet-type bleeding disorder 3 skos:exactMatch OMIM:177820 semapv:UnspecifiedMatching DOID:0111057 platelet-type bleeding disorder 11 oboInOwl:hasDbXref ICD10CM:D69.8 semapv:UnspecifiedMatching -DOID:0111057 platelet-type bleeding disorder 11 oboInOwl:hasDbXref OMIM:614201 semapv:UnspecifiedMatching DOID:0111057 platelet-type bleeding disorder 11 oboInOwl:hasDbXref ORDO:98885 semapv:UnspecifiedMatching -DOID:0111057 platelet-type bleeding disorder 11 skos:exactMatch OMIM:614201 semapv:UnspecifiedMatching -DOID:0111058 platelet-type bleeding disorder 12 oboInOwl:hasDbXref OMIM:605735 semapv:UnspecifiedMatching -DOID:0111058 platelet-type bleeding disorder 12 skos:exactMatch OMIM:605735 semapv:UnspecifiedMatching -DOID:0111059 Bernard-Soulier syndrome type A2 oboInOwl:hasDbXref OMIM:153670 semapv:UnspecifiedMatching -DOID:0111059 Bernard-Soulier syndrome type A2 skos:exactMatch OMIM:153670 semapv:UnspecifiedMatching DOID:0111060 Ambras type hypertrichosis universalis congenita oboInOwl:hasDbXref GARD:8206 semapv:UnspecifiedMatching DOID:0111060 Ambras type hypertrichosis universalis congenita oboInOwl:hasDbXref ICD10CM:Q84.2 semapv:UnspecifiedMatching DOID:0111060 Ambras type hypertrichosis universalis congenita oboInOwl:hasDbXref MESH:C536605 semapv:UnspecifiedMatching -DOID:0111060 Ambras type hypertrichosis universalis congenita oboInOwl:hasDbXref OMIM:145701 semapv:UnspecifiedMatching DOID:0111060 Ambras type hypertrichosis universalis congenita oboInOwl:hasDbXref ORDO:1023 semapv:UnspecifiedMatching -DOID:0111060 Ambras type hypertrichosis universalis congenita skos:exactMatch OMIM:145701 semapv:UnspecifiedMatching -DOID:0111061 familial hypobetalipoproteinemia 2 oboInOwl:hasDbXref OMIM:605019 semapv:UnspecifiedMatching -DOID:0111061 familial hypobetalipoproteinemia 2 skos:exactMatch OMIM:605019 semapv:UnspecifiedMatching -DOID:0111062 familial hypobetalipoproteinemia 1 oboInOwl:hasDbXref OMIM:615558 semapv:UnspecifiedMatching -DOID:0111062 familial hypobetalipoproteinemia 1 skos:exactMatch OMIM:615558 semapv:UnspecifiedMatching DOID:0111063 hyperphosphatemic familial tumoral calcinosis oboInOwl:hasDbXref GARD:10879 semapv:UnspecifiedMatching DOID:0111063 hyperphosphatemic familial tumoral calcinosis oboInOwl:hasDbXref ICD10CM:M11.2 semapv:UnspecifiedMatching -DOID:0111063 hyperphosphatemic familial tumoral calcinosis oboInOwl:hasDbXref OMIM:211900 semapv:UnspecifiedMatching DOID:0111063 hyperphosphatemic familial tumoral calcinosis oboInOwl:hasDbXref ORDO:306661 semapv:UnspecifiedMatching -DOID:0111063 hyperphosphatemic familial tumoral calcinosis skos:exactMatch OMIM:211900 semapv:UnspecifiedMatching DOID:0111064 autosomal recessive distal hereditary motor neuronopathy 1 oboInOwl:hasDbXref ICD10CM:G12.2 semapv:UnspecifiedMatching -DOID:0111064 autosomal recessive distal hereditary motor neuronopathy 1 oboInOwl:hasDbXref OMIM:604320 semapv:UnspecifiedMatching DOID:0111064 autosomal recessive distal hereditary motor neuronopathy 1 oboInOwl:hasDbXref ORDO:98920 semapv:UnspecifiedMatching -DOID:0111064 autosomal recessive distal hereditary motor neuronopathy 1 skos:exactMatch OMIM:604320 semapv:UnspecifiedMatching DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 oboInOwl:hasDbXref GARD:10133 semapv:UnspecifiedMatching DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 oboInOwl:hasDbXref MESH:C535715 semapv:UnspecifiedMatching -DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 oboInOwl:hasDbXref OMIM:605726 semapv:UnspecifiedMatching DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 oboInOwl:hasDbXref ORDO:139552 semapv:UnspecifiedMatching DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 oboInOwl:hasDbXref UMLS:C1854023 semapv:UnspecifiedMatching -DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 skos:exactMatch OMIM:605726 semapv:UnspecifiedMatching -DOID:0111066 congenital bile acid synthesis defect 5 oboInOwl:hasDbXref OMIM:616278 semapv:UnspecifiedMatching -DOID:0111066 congenital bile acid synthesis defect 5 skos:exactMatch OMIM:616278 semapv:UnspecifiedMatching -DOID:0111067 congenital bile acid synthesis defect 6 oboInOwl:hasDbXref OMIM:617308 semapv:UnspecifiedMatching -DOID:0111067 congenital bile acid synthesis defect 6 skos:exactMatch OMIM:617308 semapv:UnspecifiedMatching DOID:0111068 congenital bile acid synthesis defect 4 oboInOwl:hasDbXref GARD:10046 semapv:UnspecifiedMatching DOID:0111068 congenital bile acid synthesis defect 4 oboInOwl:hasDbXref MESH:C535444 semapv:UnspecifiedMatching -DOID:0111068 congenital bile acid synthesis defect 4 oboInOwl:hasDbXref OMIM:214950 semapv:UnspecifiedMatching DOID:0111068 congenital bile acid synthesis defect 4 oboInOwl:hasDbXref ORDO:79095 semapv:UnspecifiedMatching DOID:0111068 congenital bile acid synthesis defect 4 oboInOwl:hasDbXref UMLS:C1858328 semapv:UnspecifiedMatching -DOID:0111068 congenital bile acid synthesis defect 4 skos:exactMatch OMIM:214950 semapv:UnspecifiedMatching DOID:0111069 congenital bile acid synthesis defect 2 oboInOwl:hasDbXref GARD:10045 semapv:UnspecifiedMatching DOID:0111069 congenital bile acid synthesis defect 2 oboInOwl:hasDbXref MESH:C535443 semapv:UnspecifiedMatching -DOID:0111069 congenital bile acid synthesis defect 2 oboInOwl:hasDbXref OMIM:235555 semapv:UnspecifiedMatching DOID:0111069 congenital bile acid synthesis defect 2 oboInOwl:hasDbXref ORDO:79303 semapv:UnspecifiedMatching DOID:0111069 congenital bile acid synthesis defect 2 oboInOwl:hasDbXref UMLS:C1856127 semapv:UnspecifiedMatching -DOID:0111069 congenital bile acid synthesis defect 2 skos:exactMatch OMIM:235555 semapv:UnspecifiedMatching DOID:0111070 congenital bile acid synthesis defect 3 oboInOwl:hasDbXref MESH:C566340 semapv:UnspecifiedMatching -DOID:0111070 congenital bile acid synthesis defect 3 oboInOwl:hasDbXref OMIM:613812 semapv:UnspecifiedMatching DOID:0111070 congenital bile acid synthesis defect 3 oboInOwl:hasDbXref ORDO:79302 semapv:UnspecifiedMatching DOID:0111070 congenital bile acid synthesis defect 3 oboInOwl:hasDbXref UMLS:C3151147 semapv:UnspecifiedMatching -DOID:0111070 congenital bile acid synthesis defect 3 skos:exactMatch OMIM:613812 semapv:UnspecifiedMatching DOID:0111071 congenital bile acid synthesis defect 1 oboInOwl:hasDbXref GARD:9813 semapv:UnspecifiedMatching DOID:0111071 congenital bile acid synthesis defect 1 oboInOwl:hasDbXref MESH:C535442 semapv:UnspecifiedMatching -DOID:0111071 congenital bile acid synthesis defect 1 oboInOwl:hasDbXref OMIM:607765 semapv:UnspecifiedMatching DOID:0111071 congenital bile acid synthesis defect 1 oboInOwl:hasDbXref ORDO:79301 semapv:UnspecifiedMatching DOID:0111071 congenital bile acid synthesis defect 1 oboInOwl:hasDbXref UMLS:C1843116 semapv:UnspecifiedMatching -DOID:0111071 congenital bile acid synthesis defect 1 skos:exactMatch OMIM:607765 semapv:UnspecifiedMatching DOID:0111072 myostatin-related muscle hypertrophy oboInOwl:hasDbXref GARD:10238 semapv:UnspecifiedMatching DOID:0111072 myostatin-related muscle hypertrophy oboInOwl:hasDbXref MESH:C536106 semapv:UnspecifiedMatching -DOID:0111072 myostatin-related muscle hypertrophy oboInOwl:hasDbXref OMIM:614160 semapv:UnspecifiedMatching DOID:0111072 myostatin-related muscle hypertrophy oboInOwl:hasDbXref ORDO:275534 semapv:UnspecifiedMatching DOID:0111072 myostatin-related muscle hypertrophy oboInOwl:hasDbXref UMLS:C2931112 semapv:UnspecifiedMatching -DOID:0111072 myostatin-related muscle hypertrophy skos:exactMatch OMIM:614160 semapv:UnspecifiedMatching -DOID:0111073 progressive familial heart block oboInOwl:hasDbXref OMIM:115080 semapv:UnspecifiedMatching -DOID:0111073 progressive familial heart block oboInOwl:hasDbXref OMIMPS:113900 semapv:UnspecifiedMatching DOID:0111073 progressive familial heart block oboInOwl:hasDbXref ORDO:871 semapv:UnspecifiedMatching -DOID:0111074 progressive familial heart block type IA oboInOwl:hasDbXref OMIM:113900 semapv:UnspecifiedMatching -DOID:0111074 progressive familial heart block type IA skos:exactMatch OMIM:113900 semapv:UnspecifiedMatching DOID:0111075 progressive familial heart block type II oboInOwl:hasDbXref MESH:C564202 semapv:UnspecifiedMatching -DOID:0111075 progressive familial heart block type II oboInOwl:hasDbXref OMIM:140400 semapv:UnspecifiedMatching -DOID:0111075 progressive familial heart block type II skos:exactMatch OMIM:140400 semapv:UnspecifiedMatching DOID:0111076 progressive familial heart block type IB oboInOwl:hasDbXref MESH:C567037 semapv:UnspecifiedMatching -DOID:0111076 progressive familial heart block type IB oboInOwl:hasDbXref OMIM:604559 semapv:UnspecifiedMatching -DOID:0111076 progressive familial heart block type IB skos:exactMatch OMIM:604559 semapv:UnspecifiedMatching DOID:0111077 pyruvate kinase deficiency of red cells oboInOwl:hasDbXref GARD:7514 semapv:UnspecifiedMatching DOID:0111077 pyruvate kinase deficiency of red cells oboInOwl:hasDbXref MESH:C564858 semapv:UnspecifiedMatching -DOID:0111077 pyruvate kinase deficiency of red cells oboInOwl:hasDbXref OMIM:266200 semapv:UnspecifiedMatching DOID:0111077 pyruvate kinase deficiency of red cells oboInOwl:hasDbXref ORDO:766 semapv:UnspecifiedMatching -DOID:0111077 pyruvate kinase deficiency of red cells skos:exactMatch OMIM:266200 semapv:UnspecifiedMatching DOID:0111078 tibial muscular dystrophy oboInOwl:hasDbXref MESH:D049310 semapv:UnspecifiedMatching -DOID:0111078 tibial muscular dystrophy oboInOwl:hasDbXref OMIM:600334 semapv:UnspecifiedMatching DOID:0111078 tibial muscular dystrophy oboInOwl:hasDbXref ORDO:609 semapv:UnspecifiedMatching DOID:0111078 tibial muscular dystrophy oboInOwl:hasDbXref UMLS:C1838244 semapv:UnspecifiedMatching -DOID:0111078 tibial muscular dystrophy skos:exactMatch OMIM:600334 semapv:UnspecifiedMatching DOID:0111079 birdshot chorioretinopathy oboInOwl:hasDbXref GARD:5926 semapv:UnspecifiedMatching DOID:0111079 birdshot chorioretinopathy oboInOwl:hasDbXref MESH:D000080365 semapv:UnspecifiedMatching -DOID:0111079 birdshot chorioretinopathy oboInOwl:hasDbXref OMIM:605808 semapv:UnspecifiedMatching DOID:0111079 birdshot chorioretinopathy oboInOwl:hasDbXref ORDO:179 semapv:UnspecifiedMatching DOID:0111079 birdshot chorioretinopathy oboInOwl:hasDbXref UMLS:C1853959 semapv:UnspecifiedMatching -DOID:0111079 birdshot chorioretinopathy skos:exactMatch OMIM:605808 semapv:UnspecifiedMatching -DOID:0111080 Fanconi anemia complementation group V oboInOwl:hasDbXref OMIM:617243 semapv:UnspecifiedMatching -DOID:0111080 Fanconi anemia complementation group V skos:exactMatch OMIM:617243 semapv:UnspecifiedMatching -DOID:0111081 Fanconi anemia complementation group T oboInOwl:hasDbXref OMIM:616435 semapv:UnspecifiedMatching -DOID:0111081 Fanconi anemia complementation group T skos:exactMatch OMIM:616435 semapv:UnspecifiedMatching -DOID:0111082 Fanconi anemia complementation group L oboInOwl:hasDbXref OMIM:614083 semapv:UnspecifiedMatching -DOID:0111082 Fanconi anemia complementation group L skos:exactMatch OMIM:614083 semapv:UnspecifiedMatching -DOID:0111083 Fanconi anemia complementation group D2 oboInOwl:hasDbXref OMIM:227646 semapv:UnspecifiedMatching -DOID:0111083 Fanconi anemia complementation group D2 skos:exactMatch OMIM:227646 semapv:UnspecifiedMatching -DOID:0111084 Fanconi anemia complementation group E oboInOwl:hasDbXref OMIM:600901 semapv:UnspecifiedMatching -DOID:0111084 Fanconi anemia complementation group E skos:exactMatch OMIM:600901 semapv:UnspecifiedMatching -DOID:0111085 Fanconi anemia complementation group U oboInOwl:hasDbXref OMIM:617247 semapv:UnspecifiedMatching -DOID:0111085 Fanconi anemia complementation group U skos:exactMatch OMIM:617247 semapv:UnspecifiedMatching -DOID:0111086 Fanconi anemia complementation group G oboInOwl:hasDbXref OMIM:614082 semapv:UnspecifiedMatching -DOID:0111086 Fanconi anemia complementation group G skos:exactMatch OMIM:614082 semapv:UnspecifiedMatching -DOID:0111087 Fanconi anemia complementation group C oboInOwl:hasDbXref OMIM:227645 semapv:UnspecifiedMatching -DOID:0111087 Fanconi anemia complementation group C skos:exactMatch OMIM:227645 semapv:UnspecifiedMatching -DOID:0111088 Fanconi anemia complementation group F oboInOwl:hasDbXref OMIM:603467 semapv:UnspecifiedMatching -DOID:0111088 Fanconi anemia complementation group F skos:exactMatch OMIM:603467 semapv:UnspecifiedMatching -DOID:0111089 Fanconi anemia complementation group D1 oboInOwl:hasDbXref OMIM:605724 semapv:UnspecifiedMatching -DOID:0111089 Fanconi anemia complementation group D1 skos:exactMatch OMIM:605724 semapv:UnspecifiedMatching -DOID:0111090 Fanconi anemia complementation group R oboInOwl:hasDbXref OMIM:617244 semapv:UnspecifiedMatching -DOID:0111090 Fanconi anemia complementation group R skos:exactMatch OMIM:617244 semapv:UnspecifiedMatching -DOID:0111091 Fanconi anemia complementation group I oboInOwl:hasDbXref OMIM:609053 semapv:UnspecifiedMatching -DOID:0111091 Fanconi anemia complementation group I skos:exactMatch OMIM:609053 semapv:UnspecifiedMatching -DOID:0111092 Fanconi anemia complementation group P oboInOwl:hasDbXref OMIM:613951 semapv:UnspecifiedMatching -DOID:0111092 Fanconi anemia complementation group P skos:exactMatch OMIM:613951 semapv:UnspecifiedMatching -DOID:0111093 Fanconi anemia complementation group Q oboInOwl:hasDbXref OMIM:615272 semapv:UnspecifiedMatching -DOID:0111093 Fanconi anemia complementation group Q skos:exactMatch OMIM:615272 semapv:UnspecifiedMatching -DOID:0111094 Fanconi anemia complementation group N oboInOwl:hasDbXref OMIM:610832 semapv:UnspecifiedMatching -DOID:0111094 Fanconi anemia complementation group N skos:exactMatch OMIM:610832 semapv:UnspecifiedMatching -DOID:0111095 Fanconi anemia complementation group A oboInOwl:hasDbXref OMIM:227650 semapv:UnspecifiedMatching -DOID:0111095 Fanconi anemia complementation group A skos:exactMatch OMIM:227650 semapv:UnspecifiedMatching -DOID:0111096 Fanconi anemia complementation group O oboInOwl:hasDbXref OMIM:613390 semapv:UnspecifiedMatching -DOID:0111096 Fanconi anemia complementation group O skos:exactMatch OMIM:613390 semapv:UnspecifiedMatching -DOID:0111097 Fanconi anemia complementation group J oboInOwl:hasDbXref OMIM:609054 semapv:UnspecifiedMatching -DOID:0111097 Fanconi anemia complementation group J skos:exactMatch OMIM:609054 semapv:UnspecifiedMatching -DOID:0111098 Fanconi anemia complementation group B oboInOwl:hasDbXref OMIM:300514 semapv:UnspecifiedMatching -DOID:0111098 Fanconi anemia complementation group B skos:exactMatch OMIM:300514 semapv:UnspecifiedMatching -DOID:0111099 maturity-onset diabetes of the young type 1 oboInOwl:hasDbXref OMIM:125850 semapv:UnspecifiedMatching -DOID:0111099 maturity-onset diabetes of the young type 1 skos:exactMatch OMIM:125850 semapv:UnspecifiedMatching -DOID:0111100 maturity-onset diabetes of the young type 2 oboInOwl:hasDbXref OMIM:125851 semapv:UnspecifiedMatching -DOID:0111100 maturity-onset diabetes of the young type 2 skos:exactMatch OMIM:125851 semapv:UnspecifiedMatching -DOID:0111101 maturity-onset diabetes of the young type 5 oboInOwl:hasDbXref OMIM:137920 semapv:UnspecifiedMatching -DOID:0111101 maturity-onset diabetes of the young type 5 skos:exactMatch OMIM:137920 semapv:UnspecifiedMatching -DOID:0111102 maturity-onset diabetes of the young type 3 oboInOwl:hasDbXref OMIM:600496 semapv:UnspecifiedMatching -DOID:0111102 maturity-onset diabetes of the young type 3 skos:exactMatch OMIM:600496 semapv:UnspecifiedMatching DOID:0111103 maturity-onset diabetes of the young type 4 oboInOwl:hasDbXref MESH:C563451 semapv:UnspecifiedMatching -DOID:0111103 maturity-onset diabetes of the young type 4 oboInOwl:hasDbXref OMIM:606392 semapv:UnspecifiedMatching -DOID:0111103 maturity-onset diabetes of the young type 4 skos:exactMatch OMIM:606392 semapv:UnspecifiedMatching -DOID:0111104 maturity-onset diabetes of the young type 6 oboInOwl:hasDbXref OMIM:606394 semapv:UnspecifiedMatching -DOID:0111104 maturity-onset diabetes of the young type 6 skos:exactMatch OMIM:606394 semapv:UnspecifiedMatching -DOID:0111105 maturity-onset diabetes of the young type 8 oboInOwl:hasDbXref OMIM:609812 semapv:UnspecifiedMatching -DOID:0111105 maturity-onset diabetes of the young type 8 skos:exactMatch OMIM:609812 semapv:UnspecifiedMatching -DOID:0111106 maturity-onset diabetes of the young type 7 oboInOwl:hasDbXref OMIM:610508 semapv:UnspecifiedMatching -DOID:0111106 maturity-onset diabetes of the young type 7 skos:exactMatch OMIM:610508 semapv:UnspecifiedMatching -DOID:0111107 maturity-onset diabetes of the young type 9 oboInOwl:hasDbXref OMIM:612225 semapv:UnspecifiedMatching -DOID:0111107 maturity-onset diabetes of the young type 9 skos:exactMatch OMIM:612225 semapv:UnspecifiedMatching -DOID:0111108 maturity-onset diabetes of the young type 10 oboInOwl:hasDbXref OMIM:613370 semapv:UnspecifiedMatching -DOID:0111108 maturity-onset diabetes of the young type 10 skos:exactMatch OMIM:613370 semapv:UnspecifiedMatching -DOID:0111109 maturity-onset diabetes of the young type 11 oboInOwl:hasDbXref OMIM:613375 semapv:UnspecifiedMatching -DOID:0111109 maturity-onset diabetes of the young type 11 skos:exactMatch OMIM:613375 semapv:UnspecifiedMatching -DOID:0111110 maturity-onset diabetes of the young type 13 oboInOwl:hasDbXref OMIM:616329 semapv:UnspecifiedMatching -DOID:0111110 maturity-onset diabetes of the young type 13 skos:exactMatch OMIM:616329 semapv:UnspecifiedMatching -DOID:0111111 maturity-onset diabetes of the young type 14 oboInOwl:hasDbXref OMIM:616511 semapv:UnspecifiedMatching -DOID:0111111 maturity-onset diabetes of the young type 14 skos:exactMatch OMIM:616511 semapv:UnspecifiedMatching -DOID:0111112 nephronophthisis 1 oboInOwl:hasDbXref OMIM:256100 semapv:UnspecifiedMatching -DOID:0111112 nephronophthisis 1 skos:exactMatch OMIM:256100 semapv:UnspecifiedMatching DOID:0111113 nephronophthisis 2 oboInOwl:hasDbXref MESH:C566582 semapv:UnspecifiedMatching -DOID:0111113 nephronophthisis 2 oboInOwl:hasDbXref OMIM:602088 semapv:UnspecifiedMatching -DOID:0111113 nephronophthisis 2 skos:exactMatch OMIM:602088 semapv:UnspecifiedMatching DOID:0111114 nephronophthisis 3 oboInOwl:hasDbXref MESH:C565780 semapv:UnspecifiedMatching -DOID:0111114 nephronophthisis 3 oboInOwl:hasDbXref OMIM:604387 semapv:UnspecifiedMatching -DOID:0111114 nephronophthisis 3 skos:exactMatch OMIM:604387 semapv:UnspecifiedMatching DOID:0111115 nephronophthisis 4 oboInOwl:hasDbXref MESH:C564640 semapv:UnspecifiedMatching -DOID:0111115 nephronophthisis 4 oboInOwl:hasDbXref OMIM:606966 semapv:UnspecifiedMatching -DOID:0111115 nephronophthisis 4 skos:exactMatch OMIM:606966 semapv:UnspecifiedMatching DOID:0111116 nephronophthisis 7 oboInOwl:hasDbXref MESH:C566930 semapv:UnspecifiedMatching -DOID:0111116 nephronophthisis 7 oboInOwl:hasDbXref OMIM:611498 semapv:UnspecifiedMatching -DOID:0111116 nephronophthisis 7 skos:exactMatch OMIM:611498 semapv:UnspecifiedMatching -DOID:0111117 nephronophthisis-like nephropathy 1 oboInOwl:hasDbXref OMIM:613159 semapv:UnspecifiedMatching -DOID:0111117 nephronophthisis-like nephropathy 1 skos:exactMatch OMIM:613159 semapv:UnspecifiedMatching -DOID:0111118 nephronophthisis 11 oboInOwl:hasDbXref OMIM:613550 semapv:UnspecifiedMatching -DOID:0111118 nephronophthisis 11 skos:exactMatch OMIM:613550 semapv:UnspecifiedMatching -DOID:0111119 nephronophthisis 12 oboInOwl:hasDbXref OMIM:613820 semapv:UnspecifiedMatching -DOID:0111119 nephronophthisis 12 skos:exactMatch OMIM:613820 semapv:UnspecifiedMatching -DOID:0111120 nephronophthisis 9 oboInOwl:hasDbXref OMIM:613824 semapv:UnspecifiedMatching -DOID:0111120 nephronophthisis 9 skos:exactMatch OMIM:613824 semapv:UnspecifiedMatching -DOID:0111121 nephronophthisis 13 oboInOwl:hasDbXref OMIM:614377 semapv:UnspecifiedMatching -DOID:0111121 nephronophthisis 13 skos:exactMatch OMIM:614377 semapv:UnspecifiedMatching -DOID:0111122 nephronophthisis 14 oboInOwl:hasDbXref OMIM:614844 semapv:UnspecifiedMatching -DOID:0111122 nephronophthisis 14 skos:exactMatch OMIM:614844 semapv:UnspecifiedMatching -DOID:0111123 nephronophthisis 15 oboInOwl:hasDbXref OMIM:614845 semapv:UnspecifiedMatching -DOID:0111123 nephronophthisis 15 skos:exactMatch OMIM:614845 semapv:UnspecifiedMatching -DOID:0111124 nephronophthisis 16 oboInOwl:hasDbXref OMIM:615382 semapv:UnspecifiedMatching -DOID:0111124 nephronophthisis 16 skos:exactMatch OMIM:615382 semapv:UnspecifiedMatching -DOID:0111125 nephronophthisis 18 oboInOwl:hasDbXref OMIM:615862 semapv:UnspecifiedMatching -DOID:0111125 nephronophthisis 18 skos:exactMatch OMIM:615862 semapv:UnspecifiedMatching -DOID:0111126 nephronophthisis 19 oboInOwl:hasDbXref OMIM:616217 semapv:UnspecifiedMatching -DOID:0111126 nephronophthisis 19 skos:exactMatch OMIM:616217 semapv:UnspecifiedMatching -DOID:0111127 nephronophthisis 20 oboInOwl:hasDbXref OMIM:617271 semapv:UnspecifiedMatching -DOID:0111127 nephronophthisis 20 skos:exactMatch OMIM:617271 semapv:UnspecifiedMatching DOID:0111128 focal segmental glomerulosclerosis 1 oboInOwl:hasDbXref ICD10CM:N04.1 semapv:UnspecifiedMatching -DOID:0111128 focal segmental glomerulosclerosis 1 oboInOwl:hasDbXref OMIM:603278 semapv:UnspecifiedMatching -DOID:0111128 focal segmental glomerulosclerosis 1 skos:exactMatch OMIM:603278 semapv:UnspecifiedMatching DOID:0111129 focal segmental glomerulosclerosis 2 oboInOwl:hasDbXref ICD10CM:N04.1 semapv:UnspecifiedMatching DOID:0111129 focal segmental glomerulosclerosis 2 oboInOwl:hasDbXref MESH:C565831 semapv:UnspecifiedMatching -DOID:0111129 focal segmental glomerulosclerosis 2 oboInOwl:hasDbXref OMIM:603965 semapv:UnspecifiedMatching -DOID:0111129 focal segmental glomerulosclerosis 2 skos:exactMatch OMIM:603965 semapv:UnspecifiedMatching DOID:0111130 focal segmental glomerulosclerosis 5 oboInOwl:hasDbXref ICD10CM:N04.1 semapv:UnspecifiedMatching DOID:0111130 focal segmental glomerulosclerosis 5 oboInOwl:hasDbXref MESH:C567687 semapv:UnspecifiedMatching -DOID:0111130 focal segmental glomerulosclerosis 5 oboInOwl:hasDbXref OMIM:613237 semapv:UnspecifiedMatching -DOID:0111130 focal segmental glomerulosclerosis 5 skos:exactMatch OMIM:613237 semapv:UnspecifiedMatching DOID:0111131 focal segmental glomerulosclerosis 6 oboInOwl:hasDbXref ICD10CM:N04.1 semapv:UnspecifiedMatching -DOID:0111131 focal segmental glomerulosclerosis 6 oboInOwl:hasDbXref OMIM:614131 semapv:UnspecifiedMatching -DOID:0111131 focal segmental glomerulosclerosis 6 skos:exactMatch OMIM:614131 semapv:UnspecifiedMatching DOID:0111132 focal segmental glomerulosclerosis 7 oboInOwl:hasDbXref ICD10CM:N04.1 semapv:UnspecifiedMatching -DOID:0111132 focal segmental glomerulosclerosis 7 oboInOwl:hasDbXref OMIM:616002 semapv:UnspecifiedMatching -DOID:0111132 focal segmental glomerulosclerosis 7 skos:exactMatch OMIM:616002 semapv:UnspecifiedMatching DOID:0111133 focal segmental glomerulosclerosis 8 oboInOwl:hasDbXref ICD10CM:N04.1 semapv:UnspecifiedMatching -DOID:0111133 focal segmental glomerulosclerosis 8 oboInOwl:hasDbXref OMIM:616032 semapv:UnspecifiedMatching -DOID:0111133 focal segmental glomerulosclerosis 8 skos:exactMatch OMIM:616032 semapv:UnspecifiedMatching DOID:0111134 focal segmental glomerulosclerosis 9 oboInOwl:hasDbXref ICD10CM:N04.1 semapv:UnspecifiedMatching -DOID:0111134 focal segmental glomerulosclerosis 9 oboInOwl:hasDbXref OMIM:616220 semapv:UnspecifiedMatching -DOID:0111134 focal segmental glomerulosclerosis 9 skos:exactMatch OMIM:616220 semapv:UnspecifiedMatching DOID:0111135 congenital generalized lipodystrophy type 1 oboInOwl:hasDbXref GARD:84 semapv:UnspecifiedMatching DOID:0111135 congenital generalized lipodystrophy type 1 oboInOwl:hasDbXref ICD10CM:E88.1 semapv:UnspecifiedMatching -DOID:0111135 congenital generalized lipodystrophy type 1 oboInOwl:hasDbXref OMIM:608594 semapv:UnspecifiedMatching -DOID:0111135 congenital generalized lipodystrophy type 1 skos:exactMatch OMIM:608594 semapv:UnspecifiedMatching DOID:0111136 congenital generalized lipodystrophy type 2 oboInOwl:hasDbXref GARD:10212 semapv:UnspecifiedMatching DOID:0111136 congenital generalized lipodystrophy type 2 oboInOwl:hasDbXref ICD10CM:E88.1 semapv:UnspecifiedMatching -DOID:0111136 congenital generalized lipodystrophy type 2 oboInOwl:hasDbXref OMIM:269700 semapv:UnspecifiedMatching -DOID:0111136 congenital generalized lipodystrophy type 2 skos:exactMatch OMIM:269700 semapv:UnspecifiedMatching DOID:0111137 congenital generalized lipodystrophy type 3 oboInOwl:hasDbXref ICD10CM:E88.1 semapv:UnspecifiedMatching -DOID:0111137 congenital generalized lipodystrophy type 3 oboInOwl:hasDbXref OMIM:612526 semapv:UnspecifiedMatching -DOID:0111137 congenital generalized lipodystrophy type 3 skos:exactMatch OMIM:612526 semapv:UnspecifiedMatching DOID:0111138 congenital generalized lipodystrophy type 4 oboInOwl:hasDbXref GARD:10937 semapv:UnspecifiedMatching DOID:0111138 congenital generalized lipodystrophy type 4 oboInOwl:hasDbXref ICD10CM:E88.1 semapv:UnspecifiedMatching -DOID:0111138 congenital generalized lipodystrophy type 4 oboInOwl:hasDbXref OMIM:613327 semapv:UnspecifiedMatching DOID:0111138 congenital generalized lipodystrophy type 4 oboInOwl:hasDbXref ORDO:228429 semapv:UnspecifiedMatching -DOID:0111138 congenital generalized lipodystrophy type 4 skos:exactMatch OMIM:613327 semapv:UnspecifiedMatching DOID:0111139 mitochondrial complex III deficiency oboInOwl:hasDbXref GARD:8295 semapv:UnspecifiedMatching DOID:0111139 mitochondrial complex III deficiency oboInOwl:hasDbXref MESH:C565128 semapv:UnspecifiedMatching DOID:0111140 IGSF1 deficiency syndrome oboInOwl:hasDbXref ICD10CM:E03.1 semapv:UnspecifiedMatching -DOID:0111140 IGSF1 deficiency syndrome oboInOwl:hasDbXref OMIM:300888 semapv:UnspecifiedMatching DOID:0111140 IGSF1 deficiency syndrome oboInOwl:hasDbXref ORDO:329235 semapv:UnspecifiedMatching -DOID:0111140 IGSF1 deficiency syndrome skos:exactMatch OMIM:300888 semapv:UnspecifiedMatching DOID:0111142 oligomeganephronia oboInOwl:hasDbXref GARD:4066 semapv:UnspecifiedMatching DOID:0111142 oligomeganephronia oboInOwl:hasDbXref ICD10CM:Q60.4 semapv:UnspecifiedMatching DOID:0111142 oligomeganephronia oboInOwl:hasDbXref ORDO:2260 semapv:UnspecifiedMatching @@ -13642,8 +6238,6 @@ DOID:0111143 mitochondrial complex V (ATP synthase) deficiency oboInOwl:hasDbXre DOID:0111143 mitochondrial complex V (ATP synthase) deficiency oboInOwl:hasDbXref ORDO:254913 semapv:UnspecifiedMatching DOID:0111143 mitochondrial complex V (ATP synthase) deficiency oboInOwl:hasDbXref UMLS:C4757950 semapv:UnspecifiedMatching DOID:0111144 preterm premature rupture of the membranes oboInOwl:hasDbXref MESH:C563032 semapv:UnspecifiedMatching -DOID:0111144 preterm premature rupture of the membranes oboInOwl:hasDbXref OMIM:610504 semapv:UnspecifiedMatching -DOID:0111144 preterm premature rupture of the membranes skos:exactMatch OMIM:610504 semapv:UnspecifiedMatching DOID:0111146 acquired von Willebrand syndrome oboInOwl:hasDbXref GARD:5573 semapv:UnspecifiedMatching DOID:0111146 acquired von Willebrand syndrome oboInOwl:hasDbXref ICD10CM:D68.04 semapv:UnspecifiedMatching DOID:0111146 acquired von Willebrand syndrome oboInOwl:hasDbXref MEDDRA:10069495 semapv:UnspecifiedMatching @@ -13665,11 +6259,7 @@ DOID:0111148 isolated ectopia lentis oboInOwl:hasDbXref NCI:C125484 semapv:Unspe DOID:0111148 isolated ectopia lentis oboInOwl:hasDbXref ORDO:1885 semapv:UnspecifiedMatching DOID:0111148 isolated ectopia lentis oboInOwl:hasDbXref UMLS:C0013581 semapv:UnspecifiedMatching DOID:0111148 isolated ectopia lentis oboInOwl:hasDbXref UMLS:C2746069 semapv:UnspecifiedMatching -DOID:0111149 autosomal recessive isolated ectopia lentis 2 oboInOwl:hasDbXref OMIM:225100 semapv:UnspecifiedMatching -DOID:0111149 autosomal recessive isolated ectopia lentis 2 skos:exactMatch OMIM:225100 semapv:UnspecifiedMatching -DOID:0111150 autosomal dominant isolated ectopia lentis 1 oboInOwl:hasDbXref OMIM:129600 semapv:UnspecifiedMatching DOID:0111150 autosomal dominant isolated ectopia lentis 1 oboInOwl:hasDbXref UMLS:C1851286 semapv:UnspecifiedMatching -DOID:0111150 autosomal dominant isolated ectopia lentis 1 skos:exactMatch OMIM:129600 semapv:UnspecifiedMatching DOID:0111151 Prinzmetal angina oboInOwl:hasDbXref MESH:D000788 semapv:UnspecifiedMatching DOID:0111152 multicentric Castleman disease oboInOwl:hasDbXref GARD:9644 semapv:UnspecifiedMatching DOID:0111152 multicentric Castleman disease oboInOwl:hasDbXref MESH:C537372 semapv:UnspecifiedMatching @@ -13680,16 +6270,10 @@ DOID:0111153 congenital mirror movement disorder oboInOwl:hasDbXref ORDO:238722 DOID:0111154 postural orthostatic tachycardia syndrome oboInOwl:hasDbXref GARD:9597 semapv:UnspecifiedMatching DOID:0111154 postural orthostatic tachycardia syndrome oboInOwl:hasDbXref ICD10CM:I95.1 semapv:UnspecifiedMatching DOID:0111154 postural orthostatic tachycardia syndrome oboInOwl:hasDbXref MESH:D054972 semapv:UnspecifiedMatching -DOID:0111154 postural orthostatic tachycardia syndrome oboInOwl:hasDbXref OMIM:604715 semapv:UnspecifiedMatching DOID:0111154 postural orthostatic tachycardia syndrome oboInOwl:hasDbXref ORDO:443236 semapv:UnspecifiedMatching -DOID:0111154 postural orthostatic tachycardia syndrome skos:exactMatch OMIM:604715 semapv:UnspecifiedMatching -DOID:0111155 autosomal recessive spinocerebellar ataxia 21 oboInOwl:hasDbXref OMIM:616719 semapv:UnspecifiedMatching DOID:0111155 autosomal recessive spinocerebellar ataxia 21 oboInOwl:hasDbXref ORDO:466794 semapv:UnspecifiedMatching -DOID:0111155 autosomal recessive spinocerebellar ataxia 21 skos:exactMatch OMIM:616719 semapv:UnspecifiedMatching DOID:0111156 spermatogenic failure 9 oboInOwl:hasDbXref GARD:12502 semapv:UnspecifiedMatching -DOID:0111156 spermatogenic failure 9 oboInOwl:hasDbXref OMIM:613958 semapv:UnspecifiedMatching DOID:0111156 spermatogenic failure 9 oboInOwl:hasDbXref ORDO:171709 semapv:UnspecifiedMatching -DOID:0111156 spermatogenic failure 9 skos:exactMatch OMIM:613958 semapv:UnspecifiedMatching DOID:0111157 Castleman disease oboInOwl:hasDbXref GARD:12656 semapv:UnspecifiedMatching DOID:0111157 Castleman disease oboInOwl:hasDbXref ICD10CM:D47.Z2 semapv:UnspecifiedMatching DOID:0111157 Castleman disease oboInOwl:hasDbXref MESH:C536362 semapv:UnspecifiedMatching @@ -13700,162 +6284,72 @@ DOID:0111157 Castleman disease oboInOwl:hasDbXref UMLS:C0017531 semapv:Unspecifi DOID:0111157 Castleman disease oboInOwl:hasDbXref UMLS:C2931179 semapv:UnspecifiedMatching DOID:0111158 SADDAN oboInOwl:hasDbXref GARD:9443 semapv:UnspecifiedMatching DOID:0111158 SADDAN oboInOwl:hasDbXref MESH:D000130 semapv:UnspecifiedMatching -DOID:0111158 SADDAN oboInOwl:hasDbXref OMIM:616482 semapv:UnspecifiedMatching DOID:0111158 SADDAN oboInOwl:hasDbXref ORDO:85165 semapv:UnspecifiedMatching DOID:0111158 SADDAN oboInOwl:hasDbXref UMLS:C2674173 semapv:UnspecifiedMatching -DOID:0111158 SADDAN skos:exactMatch OMIM:616482 semapv:UnspecifiedMatching DOID:0111160 camptodactyly-tall stature-scoliosis-hearing loss syndrome oboInOwl:hasDbXref MESH:C537975 semapv:UnspecifiedMatching -DOID:0111160 camptodactyly-tall stature-scoliosis-hearing loss syndrome oboInOwl:hasDbXref OMIM:610474 semapv:UnspecifiedMatching DOID:0111160 camptodactyly-tall stature-scoliosis-hearing loss syndrome oboInOwl:hasDbXref ORDO:85164 semapv:UnspecifiedMatching DOID:0111160 camptodactyly-tall stature-scoliosis-hearing loss syndrome oboInOwl:hasDbXref UMLS:C1864852 semapv:UnspecifiedMatching -DOID:0111160 camptodactyly-tall stature-scoliosis-hearing loss syndrome skos:exactMatch OMIM:610474 semapv:UnspecifiedMatching -DOID:0111161 Crouzon syndrome-acanthosis nigricans syndrome oboInOwl:hasDbXref OMIM:612247 semapv:UnspecifiedMatching DOID:0111161 Crouzon syndrome-acanthosis nigricans syndrome oboInOwl:hasDbXref ORDO:93262 semapv:UnspecifiedMatching -DOID:0111161 Crouzon syndrome-acanthosis nigricans syndrome skos:exactMatch OMIM:612247 semapv:UnspecifiedMatching DOID:0111162 epidermal nevus oboInOwl:hasDbXref MESH:C580062 semapv:UnspecifiedMatching -DOID:0111162 epidermal nevus oboInOwl:hasDbXref OMIM:162900 semapv:UnspecifiedMatching -DOID:0111162 epidermal nevus skos:exactMatch OMIM:162900 semapv:UnspecifiedMatching DOID:0111163 molybdenum cofactor deficiency type B oboInOwl:hasDbXref MESH:C565373 semapv:UnspecifiedMatching -DOID:0111163 molybdenum cofactor deficiency type B oboInOwl:hasDbXref OMIM:252160 semapv:UnspecifiedMatching DOID:0111163 molybdenum cofactor deficiency type B oboInOwl:hasDbXref ORDO:308393 semapv:UnspecifiedMatching DOID:0111163 molybdenum cofactor deficiency type B oboInOwl:hasDbXref UMLS:C1854989 semapv:UnspecifiedMatching -DOID:0111163 molybdenum cofactor deficiency type B skos:exactMatch OMIM:252160 semapv:UnspecifiedMatching DOID:0111164 molybdenum cofactor deficiency type A oboInOwl:hasDbXref MESH:C565372 semapv:UnspecifiedMatching -DOID:0111164 molybdenum cofactor deficiency type A oboInOwl:hasDbXref OMIM:252150 semapv:UnspecifiedMatching DOID:0111164 molybdenum cofactor deficiency type A oboInOwl:hasDbXref ORDO:308386 semapv:UnspecifiedMatching DOID:0111164 molybdenum cofactor deficiency type A oboInOwl:hasDbXref UMLS:C1854988 semapv:UnspecifiedMatching -DOID:0111164 molybdenum cofactor deficiency type A skos:exactMatch OMIM:252150 semapv:UnspecifiedMatching DOID:0111165 molybdenum cofactor deficiency oboInOwl:hasDbXref GARD:3705 semapv:UnspecifiedMatching DOID:0111165 molybdenum cofactor deficiency oboInOwl:hasDbXref ICD10CM:E72.1 semapv:UnspecifiedMatching DOID:0111165 molybdenum cofactor deficiency oboInOwl:hasDbXref MESH:C535811 semapv:UnspecifiedMatching -DOID:0111165 molybdenum cofactor deficiency oboInOwl:hasDbXref OMIMPS:252150 semapv:UnspecifiedMatching DOID:0111165 molybdenum cofactor deficiency oboInOwl:hasDbXref ORDO:99732 semapv:UnspecifiedMatching -DOID:0111165 molybdenum cofactor deficiency skos:exactMatch OMIMPS:252150 semapv:UnspecifiedMatching DOID:0111166 molybdenum cofactor deficiency type C oboInOwl:hasDbXref MESH:C565374 semapv:UnspecifiedMatching -DOID:0111166 molybdenum cofactor deficiency type C oboInOwl:hasDbXref OMIM:615501 semapv:UnspecifiedMatching DOID:0111166 molybdenum cofactor deficiency type C oboInOwl:hasDbXref ORDO:308400 semapv:UnspecifiedMatching DOID:0111166 molybdenum cofactor deficiency type C oboInOwl:hasDbXref UMLS:C1854990 semapv:UnspecifiedMatching -DOID:0111166 molybdenum cofactor deficiency type C skos:exactMatch OMIM:615501 semapv:UnspecifiedMatching DOID:0111167 Dyggve-Melchior-Clausen disease oboInOwl:hasDbXref GARD:6295 semapv:UnspecifiedMatching -DOID:0111167 Dyggve-Melchior-Clausen disease oboInOwl:hasDbXref OMIM:223800 semapv:UnspecifiedMatching -DOID:0111167 Dyggve-Melchior-Clausen disease skos:exactMatch OMIM:223800 semapv:UnspecifiedMatching DOID:0111168 sepiapterin reductase deficiency oboInOwl:hasDbXref GARD:10365 semapv:UnspecifiedMatching DOID:0111168 sepiapterin reductase deficiency oboInOwl:hasDbXref MESH:C562657 semapv:UnspecifiedMatching -DOID:0111168 sepiapterin reductase deficiency oboInOwl:hasDbXref OMIM:612716 semapv:UnspecifiedMatching DOID:0111168 sepiapterin reductase deficiency oboInOwl:hasDbXref ORDO:70594 semapv:UnspecifiedMatching DOID:0111168 sepiapterin reductase deficiency oboInOwl:hasDbXref UMLS:C0268468 semapv:UnspecifiedMatching -DOID:0111168 sepiapterin reductase deficiency skos:exactMatch OMIM:612716 semapv:UnspecifiedMatching DOID:0111169 subcortical band heterotopia oboInOwl:hasDbXref MESH:D054221 semapv:UnspecifiedMatching DOID:0111169 subcortical band heterotopia oboInOwl:hasDbXref NCI:C116933 semapv:UnspecifiedMatching -DOID:0111169 subcortical band heterotopia oboInOwl:hasDbXref OMIM:600348 semapv:UnspecifiedMatching DOID:0111169 subcortical band heterotopia oboInOwl:hasDbXref ORDO:99796 semapv:UnspecifiedMatching DOID:0111169 subcortical band heterotopia oboInOwl:hasDbXref UMLS:C1848201 semapv:UnspecifiedMatching -DOID:0111169 subcortical band heterotopia skos:exactMatch OMIM:600348 semapv:UnspecifiedMatching -DOID:0111170 autosomal dominant sensory ataxia 1 oboInOwl:hasDbXref OMIM:608984 semapv:UnspecifiedMatching -DOID:0111170 autosomal dominant sensory ataxia 1 skos:exactMatch OMIM:608984 semapv:UnspecifiedMatching DOID:0111180 French Canadian Leigh disease oboInOwl:hasDbXref GARD:8370 semapv:UnspecifiedMatching DOID:0111180 French Canadian Leigh disease oboInOwl:hasDbXref MESH:C537004 semapv:UnspecifiedMatching -DOID:0111180 French Canadian Leigh disease oboInOwl:hasDbXref OMIM:220111 semapv:UnspecifiedMatching DOID:0111180 French Canadian Leigh disease oboInOwl:hasDbXref ORDO:70472 semapv:UnspecifiedMatching DOID:0111180 French Canadian Leigh disease oboInOwl:hasDbXref UMLS:C1857355 semapv:UnspecifiedMatching -DOID:0111180 French Canadian Leigh disease skos:exactMatch OMIM:220111 semapv:UnspecifiedMatching DOID:0111181 familial hemiplegic migraine 1 oboInOwl:hasDbXref GARD:2638 semapv:UnspecifiedMatching -DOID:0111181 familial hemiplegic migraine 1 oboInOwl:hasDbXref OMIM:141500 semapv:UnspecifiedMatching -DOID:0111181 familial hemiplegic migraine 1 skos:exactMatch OMIM:141500 semapv:UnspecifiedMatching DOID:0111182 familial hemiplegic migraine 2 oboInOwl:hasDbXref GARD:10095 semapv:UnspecifiedMatching -DOID:0111182 familial hemiplegic migraine 2 oboInOwl:hasDbXref OMIM:602481 semapv:UnspecifiedMatching -DOID:0111182 familial hemiplegic migraine 2 skos:exactMatch OMIM:602481 semapv:UnspecifiedMatching DOID:0111183 familial hemiplegic migraine 3 oboInOwl:hasDbXref GARD:10974 semapv:UnspecifiedMatching -DOID:0111183 familial hemiplegic migraine 3 oboInOwl:hasDbXref OMIM:609634 semapv:UnspecifiedMatching -DOID:0111183 familial hemiplegic migraine 3 skos:exactMatch OMIM:609634 semapv:UnspecifiedMatching -DOID:0111184 myopathy, lactic acidosis, and sideroblastic anemia 3 oboInOwl:hasDbXref OMIM:500011 semapv:UnspecifiedMatching -DOID:0111184 myopathy, lactic acidosis, and sideroblastic anemia 3 skos:exactMatch OMIM:500011 semapv:UnspecifiedMatching -DOID:0111185 myopathy, lactic acidosis, and sideroblastic anemia 1 oboInOwl:hasDbXref OMIM:600462 semapv:UnspecifiedMatching -DOID:0111185 myopathy, lactic acidosis, and sideroblastic anemia 1 skos:exactMatch OMIM:600462 semapv:UnspecifiedMatching -DOID:0111186 myopathy, lactic acidosis, and sideroblastic anemia 2 oboInOwl:hasDbXref OMIM:613561 semapv:UnspecifiedMatching -DOID:0111186 myopathy, lactic acidosis, and sideroblastic anemia 2 skos:exactMatch OMIM:613561 semapv:UnspecifiedMatching -DOID:0111187 distal myopathy with anterior tibial onset oboInOwl:hasDbXref OMIM:606768 semapv:UnspecifiedMatching DOID:0111187 distal myopathy with anterior tibial onset oboInOwl:hasDbXref ORDO:178400 semapv:UnspecifiedMatching -DOID:0111187 distal myopathy with anterior tibial onset skos:exactMatch OMIM:606768 semapv:UnspecifiedMatching DOID:0111188 myofibrillar myopathy 9 oboInOwl:hasDbXref GARD:12591 semapv:UnspecifiedMatching -DOID:0111188 myofibrillar myopathy 9 oboInOwl:hasDbXref OMIM:603689 semapv:UnspecifiedMatching DOID:0111188 myofibrillar myopathy 9 oboInOwl:hasDbXref ORDO:178464 semapv:UnspecifiedMatching -DOID:0111188 myofibrillar myopathy 9 skos:exactMatch OMIM:603689 semapv:UnspecifiedMatching -DOID:0111189 distal myopathy 3 oboInOwl:hasDbXref OMIM:610099 semapv:UnspecifiedMatching DOID:0111189 distal myopathy 3 oboInOwl:hasDbXref ORDO:399086 semapv:UnspecifiedMatching -DOID:0111189 distal myopathy 3 skos:exactMatch OMIM:610099 semapv:UnspecifiedMatching -DOID:0111190 distal myopathy 4 oboInOwl:hasDbXref OMIM:614065 semapv:UnspecifiedMatching DOID:0111190 distal myopathy 4 oboInOwl:hasDbXref ORDO:63273 semapv:UnspecifiedMatching -DOID:0111190 distal myopathy 4 skos:exactMatch OMIM:614065 semapv:UnspecifiedMatching -DOID:0111191 distal myopathy Tateyama type oboInOwl:hasDbXref OMIM:614321 semapv:UnspecifiedMatching DOID:0111191 distal myopathy Tateyama type oboInOwl:hasDbXref ORDO:488650 semapv:UnspecifiedMatching -DOID:0111191 distal myopathy Tateyama type skos:exactMatch OMIM:614321 semapv:UnspecifiedMatching -DOID:0111192 facioscapulohumeral muscular dystrophy 1 oboInOwl:hasDbXref OMIM:158900 semapv:UnspecifiedMatching -DOID:0111192 facioscapulohumeral muscular dystrophy 1 skos:exactMatch OMIM:158900 semapv:UnspecifiedMatching -DOID:0111193 facioscapulohumeral muscular dystrophy 2 oboInOwl:hasDbXref OMIM:158901 semapv:UnspecifiedMatching -DOID:0111193 facioscapulohumeral muscular dystrophy 2 skos:exactMatch OMIM:158901 semapv:UnspecifiedMatching -DOID:0111194 autosomal dominant adult-onset proximal spinal muscular atrophy oboInOwl:hasDbXref OMIM:182980 semapv:UnspecifiedMatching DOID:0111194 autosomal dominant adult-onset proximal spinal muscular atrophy oboInOwl:hasDbXref ORDO:209335 semapv:UnspecifiedMatching -DOID:0111194 autosomal dominant adult-onset proximal spinal muscular atrophy skos:exactMatch OMIM:182980 semapv:UnspecifiedMatching -DOID:0111195 erythrokeratodermia variabilis et progressiva 1 oboInOwl:hasDbXref OMIM:133200 semapv:UnspecifiedMatching -DOID:0111195 erythrokeratodermia variabilis et progressiva 1 skos:exactMatch OMIM:133200 semapv:UnspecifiedMatching DOID:0111196 X-linked distal spinal muscular atrophy 3 oboInOwl:hasDbXref MESH:C564506 semapv:UnspecifiedMatching -DOID:0111196 X-linked distal spinal muscular atrophy 3 oboInOwl:hasDbXref OMIM:300489 semapv:UnspecifiedMatching DOID:0111196 X-linked distal spinal muscular atrophy 3 oboInOwl:hasDbXref ORDO:139557 semapv:UnspecifiedMatching DOID:0111196 X-linked distal spinal muscular atrophy 3 oboInOwl:hasDbXref UMLS:C1845359 semapv:UnspecifiedMatching -DOID:0111196 X-linked distal spinal muscular atrophy 3 skos:exactMatch OMIM:300489 semapv:UnspecifiedMatching -DOID:0111197 autosomal recessive distal hereditary motor neuronopathy oboInOwl:hasDbXref OMIMPS:604320 semapv:UnspecifiedMatching DOID:0111197 autosomal recessive distal hereditary motor neuronopathy oboInOwl:hasDbXref ORDO:140468 semapv:UnspecifiedMatching -DOID:0111197 autosomal recessive distal hereditary motor neuronopathy skos:exactMatch OMIMPS:604320 semapv:UnspecifiedMatching -DOID:0111198 autosomal dominant distal hereditary motor neuronopathy oboInOwl:hasDbXref OMIMPS:182960 semapv:UnspecifiedMatching DOID:0111198 autosomal dominant distal hereditary motor neuronopathy oboInOwl:hasDbXref ORDO:140465 semapv:UnspecifiedMatching -DOID:0111198 autosomal dominant distal hereditary motor neuronopathy skos:exactMatch OMIMPS:182960 semapv:UnspecifiedMatching -DOID:0111199 autosomal dominant distal hereditary motor neuronopathy 7 oboInOwl:hasDbXref OMIM:158580 semapv:UnspecifiedMatching DOID:0111199 autosomal dominant distal hereditary motor neuronopathy 7 oboInOwl:hasDbXref ORDO:139589 semapv:UnspecifiedMatching -DOID:0111199 autosomal dominant distal hereditary motor neuronopathy 7 skos:exactMatch OMIM:158580 semapv:UnspecifiedMatching DOID:0111200 autosomal dominant distal hereditary motor neuronopathy 1 oboInOwl:hasDbXref MESH:C566675 semapv:UnspecifiedMatching DOID:0111200 autosomal dominant distal hereditary motor neuronopathy 1 oboInOwl:hasDbXref NCI:C132826 semapv:UnspecifiedMatching -DOID:0111200 autosomal dominant distal hereditary motor neuronopathy 1 oboInOwl:hasDbXref OMIM:182960 semapv:UnspecifiedMatching DOID:0111200 autosomal dominant distal hereditary motor neuronopathy 1 oboInOwl:hasDbXref ORDO:139518 semapv:UnspecifiedMatching DOID:0111200 autosomal dominant distal hereditary motor neuronopathy 1 oboInOwl:hasDbXref UMLS:C1866784 semapv:UnspecifiedMatching -DOID:0111200 autosomal dominant distal hereditary motor neuronopathy 1 skos:exactMatch OMIM:182960 semapv:UnspecifiedMatching -DOID:0111202 autosomal dominant distal hereditary motor neuronopathy 14 oboInOwl:hasDbXref OMIM:607641 semapv:UnspecifiedMatching -DOID:0111202 autosomal dominant distal hereditary motor neuronopathy 14 skos:exactMatch OMIM:607641 semapv:UnspecifiedMatching DOID:0111203 autosomal dominant distal hereditary motor neuronopathy 5 oboInOwl:hasDbXref MESH:C563443 semapv:UnspecifiedMatching -DOID:0111203 autosomal dominant distal hereditary motor neuronopathy 5 oboInOwl:hasDbXref OMIM:600794 semapv:UnspecifiedMatching DOID:0111203 autosomal dominant distal hereditary motor neuronopathy 5 oboInOwl:hasDbXref ORDO:139536 semapv:UnspecifiedMatching DOID:0111203 autosomal dominant distal hereditary motor neuronopathy 5 oboInOwl:hasDbXref UMLS:C1833308 semapv:UnspecifiedMatching -DOID:0111203 autosomal dominant distal hereditary motor neuronopathy 5 skos:exactMatch OMIM:600794 semapv:UnspecifiedMatching -DOID:0111205 autosomal dominant distal hereditary motor neuronopathy 12 oboInOwl:hasDbXref OMIM:614751 semapv:UnspecifiedMatching -DOID:0111205 autosomal dominant distal hereditary motor neuronopathy 12 skos:exactMatch OMIM:614751 semapv:UnspecifiedMatching DOID:0111206 autosomal dominant distal hereditary motor neuronopathy 2 oboInOwl:hasDbXref MESH:C580044 semapv:UnspecifiedMatching -DOID:0111206 autosomal dominant distal hereditary motor neuronopathy 2 oboInOwl:hasDbXref OMIM:158590 semapv:UnspecifiedMatching DOID:0111206 autosomal dominant distal hereditary motor neuronopathy 2 oboInOwl:hasDbXref ORDO:139525 semapv:UnspecifiedMatching DOID:0111206 autosomal dominant distal hereditary motor neuronopathy 2 oboInOwl:hasDbXref UMLS:C3711384 semapv:UnspecifiedMatching -DOID:0111206 autosomal dominant distal hereditary motor neuronopathy 2 skos:exactMatch OMIM:158590 semapv:UnspecifiedMatching -DOID:0111207 autosomal dominant distal hereditary motor neuronopathy 3 oboInOwl:hasDbXref OMIM:608634 semapv:UnspecifiedMatching -DOID:0111207 autosomal dominant distal hereditary motor neuronopathy 3 skos:exactMatch OMIM:608634 semapv:UnspecifiedMatching -DOID:0111209 autosomal dominant distal hereditary motor neuronopathy 4 oboInOwl:hasDbXref OMIM:613376 semapv:UnspecifiedMatching -DOID:0111209 autosomal dominant distal hereditary motor neuronopathy 4 skos:exactMatch OMIM:613376 semapv:UnspecifiedMatching -DOID:0111210 autosomal dominant distal hereditary motor neuronopathy 6 oboInOwl:hasDbXref OMIM:615575 semapv:UnspecifiedMatching -DOID:0111210 autosomal dominant distal hereditary motor neuronopathy 6 skos:exactMatch OMIM:615575 semapv:UnspecifiedMatching DOID:0111211 autosomal recessive distal hereditary motor neuronopathy 3 oboInOwl:hasDbXref MESH:C564626 semapv:UnspecifiedMatching -DOID:0111211 autosomal recessive distal hereditary motor neuronopathy 3 oboInOwl:hasDbXref OMIM:607088 semapv:UnspecifiedMatching DOID:0111211 autosomal recessive distal hereditary motor neuronopathy 3 oboInOwl:hasDbXref ORDO:139547 semapv:UnspecifiedMatching DOID:0111211 autosomal recessive distal hereditary motor neuronopathy 3 oboInOwl:hasDbXref UMLS:C1846823 semapv:UnspecifiedMatching -DOID:0111211 autosomal recessive distal hereditary motor neuronopathy 3 skos:exactMatch OMIM:607088 semapv:UnspecifiedMatching -DOID:0111212 autosomal dominant distal hereditary motor neuronopathy 9 oboInOwl:hasDbXref OMIM:617721 semapv:UnspecifiedMatching -DOID:0111212 autosomal dominant distal hereditary motor neuronopathy 9 skos:exactMatch OMIM:617721 semapv:UnspecifiedMatching DOID:0111213 autosomal recessive distal hereditary motor neuronopathy 4 oboInOwl:hasDbXref MESH:C567023 semapv:UnspecifiedMatching -DOID:0111213 autosomal recessive distal hereditary motor neuronopathy 4 oboInOwl:hasDbXref OMIM:611067 semapv:UnspecifiedMatching DOID:0111213 autosomal recessive distal hereditary motor neuronopathy 4 oboInOwl:hasDbXref ORDO:206580 semapv:UnspecifiedMatching DOID:0111213 autosomal recessive distal hereditary motor neuronopathy 4 oboInOwl:hasDbXref UMLS:C1970211 semapv:UnspecifiedMatching -DOID:0111213 autosomal recessive distal hereditary motor neuronopathy 4 skos:exactMatch OMIM:611067 semapv:UnspecifiedMatching -DOID:0111214 autosomal recessive distal hereditary motor neuronopathy 5 oboInOwl:hasDbXref OMIM:614881 semapv:UnspecifiedMatching DOID:0111214 autosomal recessive distal hereditary motor neuronopathy 5 oboInOwl:hasDbXref ORDO:314485 semapv:UnspecifiedMatching -DOID:0111214 autosomal recessive distal hereditary motor neuronopathy 5 skos:exactMatch OMIM:614881 semapv:UnspecifiedMatching -DOID:0111215 autosomal dominant distal hereditary motor neuronopathy 8 oboInOwl:hasDbXref OMIM:600175 semapv:UnspecifiedMatching -DOID:0111215 autosomal dominant distal hereditary motor neuronopathy 8 skos:exactMatch OMIM:600175 semapv:UnspecifiedMatching DOID:0111216 autosomal recessive centronuclear myopathy oboInOwl:hasDbXref GARD:12718 semapv:UnspecifiedMatching DOID:0111216 autosomal recessive centronuclear myopathy oboInOwl:hasDbXref ORDO:169186 semapv:UnspecifiedMatching DOID:0111217 autosomal dominant centronuclear myopathy oboInOwl:hasDbXref GARD:12719 semapv:UnspecifiedMatching @@ -13864,121 +6358,52 @@ DOID:0111217 autosomal dominant centronuclear myopathy oboInOwl:hasDbXref MESH:D DOID:0111217 autosomal dominant centronuclear myopathy oboInOwl:hasDbXref ORDO:169189 semapv:UnspecifiedMatching DOID:0111217 autosomal dominant centronuclear myopathy oboInOwl:hasDbXref UMLS:C1834558 semapv:UnspecifiedMatching DOID:0111218 Friedreich ataxia 1 oboInOwl:hasDbXref MESH:C565561 semapv:UnspecifiedMatching -DOID:0111218 Friedreich ataxia 1 oboInOwl:hasDbXref OMIM:229300 semapv:UnspecifiedMatching -DOID:0111218 Friedreich ataxia 1 skos:exactMatch OMIM:229300 semapv:UnspecifiedMatching DOID:0111219 Friedreich ataxia 2 oboInOwl:hasDbXref MESH:C566594 semapv:UnspecifiedMatching -DOID:0111219 Friedreich ataxia 2 oboInOwl:hasDbXref OMIM:601992 semapv:UnspecifiedMatching -DOID:0111219 Friedreich ataxia 2 skos:exactMatch OMIM:601992 semapv:UnspecifiedMatching DOID:0111220 centronuclear myopathy 2 oboInOwl:hasDbXref MESH:C562934 semapv:UnspecifiedMatching -DOID:0111220 centronuclear myopathy 2 oboInOwl:hasDbXref OMIM:255200 semapv:UnspecifiedMatching DOID:0111220 centronuclear myopathy 2 oboInOwl:hasDbXref UMLS:C0410204 semapv:UnspecifiedMatching -DOID:0111220 centronuclear myopathy 2 skos:exactMatch OMIM:255200 semapv:UnspecifiedMatching -DOID:0111221 centronuclear myopathy 6 with fiber-type disproportion oboInOwl:hasDbXref OMIM:617760 semapv:UnspecifiedMatching -DOID:0111221 centronuclear myopathy 6 with fiber-type disproportion skos:exactMatch OMIM:617760 semapv:UnspecifiedMatching -DOID:0111222 centronuclear myopathy 5 oboInOwl:hasDbXref OMIM:615959 semapv:UnspecifiedMatching -DOID:0111222 centronuclear myopathy 5 skos:exactMatch OMIM:615959 semapv:UnspecifiedMatching -DOID:0111223 centronuclear myopathy 1 oboInOwl:hasDbXref OMIM:160150 semapv:UnspecifiedMatching -DOID:0111223 centronuclear myopathy 1 skos:exactMatch OMIM:160150 semapv:UnspecifiedMatching -DOID:0111224 centronuclear myopathy 4 oboInOwl:hasDbXref OMIM:614807 semapv:UnspecifiedMatching -DOID:0111224 centronuclear myopathy 4 skos:exactMatch OMIM:614807 semapv:UnspecifiedMatching DOID:0111225 centronuclear myopathy X-linked oboInOwl:hasDbXref GARD:11925 semapv:UnspecifiedMatching DOID:0111225 centronuclear myopathy X-linked oboInOwl:hasDbXref ICD10CM:G71.220 semapv:UnspecifiedMatching DOID:0111225 centronuclear myopathy X-linked oboInOwl:hasDbXref MESH:D020914 semapv:UnspecifiedMatching DOID:0111225 centronuclear myopathy X-linked oboInOwl:hasDbXref NCI:C118781 semapv:UnspecifiedMatching -DOID:0111225 centronuclear myopathy X-linked oboInOwl:hasDbXref OMIM:310400 semapv:UnspecifiedMatching DOID:0111225 centronuclear myopathy X-linked oboInOwl:hasDbXref ORDO:596 semapv:UnspecifiedMatching DOID:0111225 centronuclear myopathy X-linked oboInOwl:hasDbXref UMLS:C0410203 semapv:UnspecifiedMatching -DOID:0111225 centronuclear myopathy X-linked skos:exactMatch OMIM:310400 semapv:UnspecifiedMatching -DOID:0111226 X-linked congenital myopathy with fiber-type disproportion oboInOwl:hasDbXref OMIM:300580 semapv:UnspecifiedMatching -DOID:0111226 X-linked congenital myopathy with fiber-type disproportion skos:exactMatch OMIM:300580 semapv:UnspecifiedMatching DOID:0111227 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 oboInOwl:hasDbXref MESH:C579991 semapv:UnspecifiedMatching -DOID:0111227 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 oboInOwl:hasDbXref OMIM:600795 semapv:UnspecifiedMatching -DOID:0111227 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 skos:exactMatch OMIM:600795 semapv:UnspecifiedMatching DOID:0111228 Sveinsson chorioretinal atrophy oboInOwl:hasDbXref MESH:C566236 semapv:UnspecifiedMatching -DOID:0111228 Sveinsson chorioretinal atrophy oboInOwl:hasDbXref OMIM:108985 semapv:UnspecifiedMatching DOID:0111228 Sveinsson chorioretinal atrophy oboInOwl:hasDbXref ORDO:86813 semapv:UnspecifiedMatching DOID:0111228 Sveinsson chorioretinal atrophy oboInOwl:hasDbXref UMLS:C1862382 semapv:UnspecifiedMatching -DOID:0111228 Sveinsson chorioretinal atrophy skos:exactMatch OMIM:108985 semapv:UnspecifiedMatching -DOID:0111229 congenital muscular dystrophy-dystroglycanopathy type A oboInOwl:hasDbXref OMIMPS:236670 semapv:UnspecifiedMatching DOID:0111229 congenital muscular dystrophy-dystroglycanopathy type A oboInOwl:hasDbXref ORDO:352687 semapv:UnspecifiedMatching -DOID:0111229 congenital muscular dystrophy-dystroglycanopathy type A skos:exactMatch OMIMPS:236670 semapv:UnspecifiedMatching -DOID:0111230 congenital muscular dystrophy-dystroglycanopathy type A11 oboInOwl:hasDbXref OMIM:615181 semapv:UnspecifiedMatching -DOID:0111230 congenital muscular dystrophy-dystroglycanopathy type A11 skos:exactMatch OMIM:615181 semapv:UnspecifiedMatching -DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 oboInOwl:hasDbXref OMIM:614830 semapv:UnspecifiedMatching -DOID:0111231 congenital muscular dystrophy-dystroglycanopathy type A8 skos:exactMatch OMIM:614830 semapv:UnspecifiedMatching -DOID:0111232 congenital muscular dystrophy-dystroglycanopathy type A9 oboInOwl:hasDbXref OMIM:616538 semapv:UnspecifiedMatching -DOID:0111232 congenital muscular dystrophy-dystroglycanopathy type A9 skos:exactMatch OMIM:616538 semapv:UnspecifiedMatching -DOID:0111233 congenital muscular dystrophy-dystroglycanopathy A14 oboInOwl:hasDbXref OMIM:615350 semapv:UnspecifiedMatching -DOID:0111233 congenital muscular dystrophy-dystroglycanopathy A14 skos:exactMatch OMIM:615350 semapv:UnspecifiedMatching -DOID:0111234 congenital muscular dystrophy-dystroglycanopathy A7 oboInOwl:hasDbXref OMIM:614643 semapv:UnspecifiedMatching -DOID:0111234 congenital muscular dystrophy-dystroglycanopathy A7 skos:exactMatch OMIM:614643 semapv:UnspecifiedMatching -DOID:0111235 congenital muscular dystrophy-dystroglycanopathy type A12 oboInOwl:hasDbXref OMIM:615249 semapv:UnspecifiedMatching -DOID:0111235 congenital muscular dystrophy-dystroglycanopathy type A12 skos:exactMatch OMIM:615249 semapv:UnspecifiedMatching -DOID:0111236 congenital muscular dystrophy-dystroglycanopathy type A3 oboInOwl:hasDbXref OMIM:253280 semapv:UnspecifiedMatching -DOID:0111236 congenital muscular dystrophy-dystroglycanopathy type A3 skos:exactMatch OMIM:253280 semapv:UnspecifiedMatching -DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 oboInOwl:hasDbXref OMIM:236670 semapv:UnspecifiedMatching -DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 skos:exactMatch OMIM:236670 semapv:UnspecifiedMatching -DOID:0111238 congenital muscular dystrophy-dystroglycanopathy type A13 oboInOwl:hasDbXref OMIM:615287 semapv:UnspecifiedMatching -DOID:0111238 congenital muscular dystrophy-dystroglycanopathy type A13 skos:exactMatch OMIM:615287 semapv:UnspecifiedMatching -DOID:0111239 congenital muscular dystrophy-dystroglycanopathy type A10 oboInOwl:hasDbXref OMIM:615041 semapv:UnspecifiedMatching -DOID:0111239 congenital muscular dystrophy-dystroglycanopathy type A10 skos:exactMatch OMIM:615041 semapv:UnspecifiedMatching -DOID:0111240 congenital muscular dystrophy-dystroglycanopathy type A2 oboInOwl:hasDbXref OMIM:613150 semapv:UnspecifiedMatching -DOID:0111240 congenital muscular dystrophy-dystroglycanopathy type A2 skos:exactMatch OMIM:613150 semapv:UnspecifiedMatching -DOID:0111241 congenital muscular dystrophy-dystroglycanopathy type A5 oboInOwl:hasDbXref OMIM:613153 semapv:UnspecifiedMatching -DOID:0111241 congenital muscular dystrophy-dystroglycanopathy type A5 skos:exactMatch OMIM:613153 semapv:UnspecifiedMatching -DOID:0111242 congenital muscular dystrophy-dystroglycanopathy type A6 oboInOwl:hasDbXref OMIM:613154 semapv:UnspecifiedMatching -DOID:0111242 congenital muscular dystrophy-dystroglycanopathy type A6 skos:exactMatch OMIM:613154 semapv:UnspecifiedMatching DOID:0111243 acromicric dysplasia oboInOwl:hasDbXref GARD:7 semapv:UnspecifiedMatching DOID:0111243 acromicric dysplasia oboInOwl:hasDbXref MESH:C535662 semapv:UnspecifiedMatching -DOID:0111243 acromicric dysplasia oboInOwl:hasDbXref OMIM:102370 semapv:UnspecifiedMatching DOID:0111243 acromicric dysplasia oboInOwl:hasDbXref ORDO:969 semapv:UnspecifiedMatching DOID:0111243 acromicric dysplasia oboInOwl:hasDbXref UMLS:C0265287 semapv:UnspecifiedMatching -DOID:0111243 acromicric dysplasia skos:exactMatch OMIM:102370 semapv:UnspecifiedMatching DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 oboInOwl:hasDbXref GARD:604 semapv:UnspecifiedMatching DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 oboInOwl:hasDbXref MESH:C537050 semapv:UnspecifiedMatching -DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 oboInOwl:hasDbXref OMIM:104100 semapv:UnspecifiedMatching DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 oboInOwl:hasDbXref ORDO:1010 semapv:UnspecifiedMatching DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 oboInOwl:hasDbXref UMLS:C1863093 semapv:UnspecifiedMatching -DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 skos:exactMatch OMIM:104100 semapv:UnspecifiedMatching DOID:0111245 palmoplantar keratoderma and congenital alopecia 2 oboInOwl:hasDbXref MESH:C535336 semapv:UnspecifiedMatching -DOID:0111245 palmoplantar keratoderma and congenital alopecia 2 oboInOwl:hasDbXref OMIM:212360 semapv:UnspecifiedMatching DOID:0111245 palmoplantar keratoderma and congenital alopecia 2 oboInOwl:hasDbXref ORDO:1366 semapv:UnspecifiedMatching DOID:0111245 palmoplantar keratoderma and congenital alopecia 2 oboInOwl:hasDbXref UMLS:C1859316 semapv:UnspecifiedMatching -DOID:0111245 palmoplantar keratoderma and congenital alopecia 2 skos:exactMatch OMIM:212360 semapv:UnspecifiedMatching DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 oboInOwl:hasDbXref GARD:9239 semapv:UnspecifiedMatching DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 oboInOwl:hasDbXref MESH:D000690 semapv:UnspecifiedMatching -DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 oboInOwl:hasDbXref OMIM:105500 semapv:UnspecifiedMatching DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 oboInOwl:hasDbXref ORDO:90020 semapv:UnspecifiedMatching DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 oboInOwl:hasDbXref UMLS:C0543859 semapv:UnspecifiedMatching -DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 skos:exactMatch OMIM:105500 semapv:UnspecifiedMatching DOID:0111247 hypertension and brachydactyly syndrome oboInOwl:hasDbXref GARD:967 semapv:UnspecifiedMatching DOID:0111247 hypertension and brachydactyly syndrome oboInOwl:hasDbXref MESH:C537095 semapv:UnspecifiedMatching -DOID:0111247 hypertension and brachydactyly syndrome oboInOwl:hasDbXref OMIM:112410 semapv:UnspecifiedMatching DOID:0111247 hypertension and brachydactyly syndrome oboInOwl:hasDbXref ORDO:1276 semapv:UnspecifiedMatching DOID:0111247 hypertension and brachydactyly syndrome oboInOwl:hasDbXref UMLS:C1862170 semapv:UnspecifiedMatching -DOID:0111247 hypertension and brachydactyly syndrome skos:exactMatch OMIM:112410 semapv:UnspecifiedMatching DOID:0111248 cerebrocostomandibular syndrome oboInOwl:hasDbXref GARD:6026 semapv:UnspecifiedMatching DOID:0111248 cerebrocostomandibular syndrome oboInOwl:hasDbXref MESH:C562538 semapv:UnspecifiedMatching -DOID:0111248 cerebrocostomandibular syndrome oboInOwl:hasDbXref OMIM:117650 semapv:UnspecifiedMatching DOID:0111248 cerebrocostomandibular syndrome oboInOwl:hasDbXref ORDO:1393 semapv:UnspecifiedMatching DOID:0111248 cerebrocostomandibular syndrome oboInOwl:hasDbXref UMLS:C0265342 semapv:UnspecifiedMatching -DOID:0111248 cerebrocostomandibular syndrome skos:exactMatch OMIM:117650 semapv:UnspecifiedMatching DOID:0111249 uveal coloboma-cleft lip and palate-intellectual disability oboInOwl:hasDbXref GARD:1440 semapv:UnspecifiedMatching DOID:0111249 uveal coloboma-cleft lip and palate-intellectual disability oboInOwl:hasDbXref MESH:C535971 semapv:UnspecifiedMatching -DOID:0111249 uveal coloboma-cleft lip and palate-intellectual disability oboInOwl:hasDbXref OMIM:120433 semapv:UnspecifiedMatching DOID:0111249 uveal coloboma-cleft lip and palate-intellectual disability oboInOwl:hasDbXref ORDO:1473 semapv:UnspecifiedMatching DOID:0111249 uveal coloboma-cleft lip and palate-intellectual disability oboInOwl:hasDbXref UMLS:C0795902 semapv:UnspecifiedMatching -DOID:0111249 uveal coloboma-cleft lip and palate-intellectual disability skos:exactMatch OMIM:120433 semapv:UnspecifiedMatching -DOID:0111250 Parkinson's disease 3 oboInOwl:hasDbXref OMIM:602404 semapv:UnspecifiedMatching -DOID:0111250 Parkinson's disease 3 skos:exactMatch OMIM:602404 semapv:UnspecifiedMatching -DOID:0111251 Parkinson's disease 21 oboInOwl:hasDbXref OMIM:616361 semapv:UnspecifiedMatching -DOID:0111251 Parkinson's disease 21 skos:exactMatch OMIM:616361 semapv:UnspecifiedMatching DOID:0111252 vestibular schwannomatosis oboInOwl:hasDbXref GARD:7193 semapv:UnspecifiedMatching DOID:0111252 vestibular schwannomatosis oboInOwl:hasDbXref ICD10CM:Q85.02 semapv:UnspecifiedMatching DOID:0111252 vestibular schwannomatosis oboInOwl:hasDbXref ICD9CM:237.72 semapv:UnspecifiedMatching DOID:0111252 vestibular schwannomatosis oboInOwl:hasDbXref MESH:D016518 semapv:UnspecifiedMatching DOID:0111252 vestibular schwannomatosis oboInOwl:hasDbXref NCI:C3274 semapv:UnspecifiedMatching -DOID:0111252 vestibular schwannomatosis oboInOwl:hasDbXref OMIM:101000 semapv:UnspecifiedMatching DOID:0111252 vestibular schwannomatosis oboInOwl:hasDbXref ORDO:637 semapv:UnspecifiedMatching DOID:0111252 vestibular schwannomatosis oboInOwl:hasDbXref UMLS:C0027832 semapv:UnspecifiedMatching DOID:0111252 vestibular schwannomatosis skos:exactMatch GARD:7193 semapv:UnspecifiedMatching @@ -13986,8 +6411,6 @@ DOID:0111252 vestibular schwannomatosis skos:exactMatch ICD10CM:Q85.02 semapv:Un DOID:0111252 vestibular schwannomatosis skos:exactMatch ICD9CM:237.72 semapv:UnspecifiedMatching DOID:0111252 vestibular schwannomatosis skos:exactMatch MESH:D016518 semapv:UnspecifiedMatching DOID:0111252 vestibular schwannomatosis skos:exactMatch NCI:C3274 semapv:UnspecifiedMatching -DOID:0111252 vestibular schwannomatosis skos:exactMatch OMIM:101000 semapv:UnspecifiedMatching -DOID:0111252 vestibular schwannomatosis skos:exactMatch OMIM:101000 semapv:UnspecifiedMatching DOID:0111252 vestibular schwannomatosis skos:exactMatch ORDO:637 semapv:UnspecifiedMatching DOID:0111252 vestibular schwannomatosis skos:exactMatch SNOMEDCT_US_2020_03_01:92503002 semapv:UnspecifiedMatching DOID:0111252 vestibular schwannomatosis skos:exactMatch UMLS:C0027832 semapv:UnspecifiedMatching @@ -13996,3661 +6419,1502 @@ DOID:0111253 neurofibromatosis 1 oboInOwl:hasDbXref ICD10CM:Q85.01 semapv:Unspec DOID:0111253 neurofibromatosis 1 oboInOwl:hasDbXref ICD9CM:237.71 semapv:UnspecifiedMatching DOID:0111253 neurofibromatosis 1 oboInOwl:hasDbXref MESH:D009456 semapv:UnspecifiedMatching DOID:0111253 neurofibromatosis 1 oboInOwl:hasDbXref NCI:C3273 semapv:UnspecifiedMatching -DOID:0111253 neurofibromatosis 1 oboInOwl:hasDbXref OMIM:162200 semapv:UnspecifiedMatching DOID:0111253 neurofibromatosis 1 oboInOwl:hasDbXref ORDO:636 semapv:UnspecifiedMatching DOID:0111253 neurofibromatosis 1 oboInOwl:hasDbXref UMLS:C0027831 semapv:UnspecifiedMatching DOID:0111253 neurofibromatosis 1 skos:exactMatch ICD10CM:Q85.01 semapv:UnspecifiedMatching DOID:0111253 neurofibromatosis 1 skos:exactMatch ICD9CM:237.71 semapv:UnspecifiedMatching DOID:0111253 neurofibromatosis 1 skos:exactMatch MESH:D009456 semapv:UnspecifiedMatching DOID:0111253 neurofibromatosis 1 skos:exactMatch NCI:C3273 semapv:UnspecifiedMatching -DOID:0111253 neurofibromatosis 1 skos:exactMatch OMIM:162200 semapv:UnspecifiedMatching -DOID:0111253 neurofibromatosis 1 skos:exactMatch OMIM:162200 semapv:UnspecifiedMatching DOID:0111253 neurofibromatosis 1 skos:exactMatch ORDO:636 semapv:UnspecifiedMatching DOID:0111253 neurofibromatosis 1 skos:exactMatch SNOMEDCT_US_2020_03_01:92824003 semapv:UnspecifiedMatching DOID:0111253 neurofibromatosis 1 skos:exactMatch UMLS:C0027831 semapv:UnspecifiedMatching DOID:0111254 glutaric acidemia I oboInOwl:hasDbXref GARD:6522 semapv:UnspecifiedMatching DOID:0111254 glutaric acidemia I oboInOwl:hasDbXref MESH:C536833 semapv:UnspecifiedMatching -DOID:0111254 glutaric acidemia I oboInOwl:hasDbXref OMIM:231670 semapv:UnspecifiedMatching DOID:0111254 glutaric acidemia I oboInOwl:hasDbXref ORDO:25 semapv:UnspecifiedMatching -DOID:0111254 glutaric acidemia I skos:exactMatch OMIM:231670 semapv:UnspecifiedMatching DOID:0111255 McKusick-Kaufman syndrome oboInOwl:hasDbXref GARD:3427 semapv:UnspecifiedMatching DOID:0111255 McKusick-Kaufman syndrome oboInOwl:hasDbXref MEDDRA:10052312 semapv:UnspecifiedMatching DOID:0111255 McKusick-Kaufman syndrome oboInOwl:hasDbXref MESH:C538159 semapv:UnspecifiedMatching -DOID:0111255 McKusick-Kaufman syndrome oboInOwl:hasDbXref OMIM:236700 semapv:UnspecifiedMatching DOID:0111255 McKusick-Kaufman syndrome oboInOwl:hasDbXref ORDO:2473 semapv:UnspecifiedMatching DOID:0111255 McKusick-Kaufman syndrome oboInOwl:hasDbXref UMLS:C0948368 semapv:UnspecifiedMatching -DOID:0111255 McKusick-Kaufman syndrome skos:exactMatch OMIM:236700 semapv:UnspecifiedMatching DOID:0111256 hyperferritinemia-cataract syndrome oboInOwl:hasDbXref GARD:2806 semapv:UnspecifiedMatching DOID:0111256 hyperferritinemia-cataract syndrome oboInOwl:hasDbXref MESH:C538137 semapv:UnspecifiedMatching -DOID:0111256 hyperferritinemia-cataract syndrome oboInOwl:hasDbXref OMIM:600886 semapv:UnspecifiedMatching DOID:0111256 hyperferritinemia-cataract syndrome oboInOwl:hasDbXref ORDO:163 semapv:UnspecifiedMatching DOID:0111256 hyperferritinemia-cataract syndrome oboInOwl:hasDbXref UMLS:C1833213 semapv:UnspecifiedMatching -DOID:0111256 hyperferritinemia-cataract syndrome skos:exactMatch OMIM:600886 semapv:UnspecifiedMatching DOID:0111257 gamma-glutamyl transpeptidase deficiency oboInOwl:hasDbXref GARD:10099 semapv:UnspecifiedMatching DOID:0111257 gamma-glutamyl transpeptidase deficiency oboInOwl:hasDbXref MESH:C536836 semapv:UnspecifiedMatching -DOID:0111257 gamma-glutamyl transpeptidase deficiency oboInOwl:hasDbXref OMIM:231950 semapv:UnspecifiedMatching DOID:0111257 gamma-glutamyl transpeptidase deficiency oboInOwl:hasDbXref ORDO:33573 semapv:UnspecifiedMatching DOID:0111257 gamma-glutamyl transpeptidase deficiency oboInOwl:hasDbXref UMLS:C0268524 semapv:UnspecifiedMatching -DOID:0111257 gamma-glutamyl transpeptidase deficiency skos:exactMatch OMIM:231950 semapv:UnspecifiedMatching DOID:0111258 pentosuria oboInOwl:hasDbXref GARD:418 semapv:UnspecifiedMatching DOID:0111258 pentosuria oboInOwl:hasDbXref ICD10CM:E74.89 semapv:UnspecifiedMatching DOID:0111258 pentosuria oboInOwl:hasDbXref MEDDRA:10064170 semapv:UnspecifiedMatching DOID:0111258 pentosuria oboInOwl:hasDbXref MESH:C536652 semapv:UnspecifiedMatching -DOID:0111258 pentosuria oboInOwl:hasDbXref OMIM:260800 semapv:UnspecifiedMatching DOID:0111258 pentosuria oboInOwl:hasDbXref ORDO:2843 semapv:UnspecifiedMatching DOID:0111258 pentosuria oboInOwl:hasDbXref UMLS:C0268162 semapv:UnspecifiedMatching -DOID:0111258 pentosuria skos:exactMatch OMIM:260800 semapv:UnspecifiedMatching DOID:0111259 postaxial acrofacial dysostosis oboInOwl:hasDbXref GARD:8410 semapv:UnspecifiedMatching DOID:0111259 postaxial acrofacial dysostosis oboInOwl:hasDbXref MESH:C537680 semapv:UnspecifiedMatching -DOID:0111259 postaxial acrofacial dysostosis oboInOwl:hasDbXref OMIM:263750 semapv:UnspecifiedMatching DOID:0111259 postaxial acrofacial dysostosis oboInOwl:hasDbXref ORDO:246 semapv:UnspecifiedMatching DOID:0111259 postaxial acrofacial dysostosis oboInOwl:hasDbXref UMLS:C0265257 semapv:UnspecifiedMatching -DOID:0111259 postaxial acrofacial dysostosis skos:exactMatch OMIM:263750 semapv:UnspecifiedMatching DOID:0111260 phosphoribosylpyrophosphate synthetase superactivity oboInOwl:hasDbXref MESH:C567064 semapv:UnspecifiedMatching -DOID:0111260 phosphoribosylpyrophosphate synthetase superactivity oboInOwl:hasDbXref OMIM:300661 semapv:UnspecifiedMatching DOID:0111260 phosphoribosylpyrophosphate synthetase superactivity oboInOwl:hasDbXref ORDO:3222 semapv:UnspecifiedMatching DOID:0111260 phosphoribosylpyrophosphate synthetase superactivity oboInOwl:hasDbXref UMLS:C1970827 semapv:UnspecifiedMatching -DOID:0111260 phosphoribosylpyrophosphate synthetase superactivity skos:exactMatch OMIM:300661 semapv:UnspecifiedMatching DOID:0111261 fumarase deficiency oboInOwl:hasDbXref GARD:6476 semapv:UnspecifiedMatching DOID:0111261 fumarase deficiency oboInOwl:hasDbXref MESH:C538191 semapv:UnspecifiedMatching -DOID:0111261 fumarase deficiency oboInOwl:hasDbXref OMIM:606812 semapv:UnspecifiedMatching DOID:0111261 fumarase deficiency oboInOwl:hasDbXref ORDO:24 semapv:UnspecifiedMatching DOID:0111261 fumarase deficiency oboInOwl:hasDbXref UMLS:C0342770 semapv:UnspecifiedMatching DOID:0111261 fumarase deficiency oboInOwl:hasDbXref UMLS:C2936826 semapv:UnspecifiedMatching -DOID:0111261 fumarase deficiency skos:exactMatch OMIM:606812 semapv:UnspecifiedMatching DOID:0111262 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly oboInOwl:hasDbXref GARD:10995 semapv:UnspecifiedMatching -DOID:0111262 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly oboInOwl:hasDbXref OMIM:613668 semapv:UnspecifiedMatching DOID:0111262 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly oboInOwl:hasDbXref ORDO:402364 semapv:UnspecifiedMatching -DOID:0111262 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly skos:exactMatch OMIM:613668 semapv:UnspecifiedMatching DOID:0111263 combined malonic and methylmalonic acidemia oboInOwl:hasDbXref GARD:10818 semapv:UnspecifiedMatching DOID:0111263 combined malonic and methylmalonic acidemia oboInOwl:hasDbXref MESH:C580002 semapv:UnspecifiedMatching -DOID:0111263 combined malonic and methylmalonic acidemia oboInOwl:hasDbXref OMIM:614265 semapv:UnspecifiedMatching DOID:0111263 combined malonic and methylmalonic acidemia oboInOwl:hasDbXref ORDO:289504 semapv:UnspecifiedMatching DOID:0111263 combined malonic and methylmalonic acidemia oboInOwl:hasDbXref UMLS:C3280314 semapv:UnspecifiedMatching -DOID:0111263 combined malonic and methylmalonic acidemia skos:exactMatch OMIM:614265 semapv:UnspecifiedMatching -DOID:0111264 Ruijs-Aalfs syndrome oboInOwl:hasDbXref OMIM:616200 semapv:UnspecifiedMatching DOID:0111264 Ruijs-Aalfs syndrome oboInOwl:hasDbXref ORDO:435953 semapv:UnspecifiedMatching -DOID:0111264 Ruijs-Aalfs syndrome skos:exactMatch OMIM:616200 semapv:UnspecifiedMatching DOID:0111265 Boucher-Neuhauser syndrome oboInOwl:hasDbXref GARD:944 semapv:UnspecifiedMatching DOID:0111265 Boucher-Neuhauser syndrome oboInOwl:hasDbXref MESH:C565850 semapv:UnspecifiedMatching -DOID:0111265 Boucher-Neuhauser syndrome oboInOwl:hasDbXref OMIM:215470 semapv:UnspecifiedMatching DOID:0111265 Boucher-Neuhauser syndrome oboInOwl:hasDbXref ORDO:1180 semapv:UnspecifiedMatching DOID:0111265 Boucher-Neuhauser syndrome oboInOwl:hasDbXref UMLS:C1859093 semapv:UnspecifiedMatching -DOID:0111265 Boucher-Neuhauser syndrome skos:exactMatch OMIM:215470 semapv:UnspecifiedMatching DOID:0111266 geroderma osteodysplasticum oboInOwl:hasDbXref GARD:413 semapv:UnspecifiedMatching DOID:0111266 geroderma osteodysplasticum oboInOwl:hasDbXref MESH:C537799 semapv:UnspecifiedMatching -DOID:0111266 geroderma osteodysplasticum oboInOwl:hasDbXref OMIM:231070 semapv:UnspecifiedMatching DOID:0111266 geroderma osteodysplasticum oboInOwl:hasDbXref ORDO:2078 semapv:UnspecifiedMatching DOID:0111266 geroderma osteodysplasticum oboInOwl:hasDbXref UMLS:C0432255 semapv:UnspecifiedMatching -DOID:0111266 geroderma osteodysplasticum skos:exactMatch OMIM:231070 semapv:UnspecifiedMatching DOID:0111267 hyaline body myopathy oboInOwl:hasDbXref GARD:7148 semapv:UnspecifiedMatching DOID:0111267 hyaline body myopathy oboInOwl:hasDbXref ORDO:53698 semapv:UnspecifiedMatching -DOID:0111268 autosomal recessive hyaline body myopathy oboInOwl:hasDbXref OMIM:255160 semapv:UnspecifiedMatching -DOID:0111268 autosomal recessive hyaline body myopathy skos:exactMatch OMIM:255160 semapv:UnspecifiedMatching -DOID:0111269 autosomal dominant hyaline body myopathy oboInOwl:hasDbXref OMIM:608358 semapv:UnspecifiedMatching -DOID:0111269 autosomal dominant hyaline body myopathy skos:exactMatch OMIM:608358 semapv:UnspecifiedMatching DOID:0111270 isolated sulfite oxidase deficiency oboInOwl:hasDbXref GARD:5062 semapv:UnspecifiedMatching DOID:0111270 isolated sulfite oxidase deficiency oboInOwl:hasDbXref ICD10CM:E72.19 semapv:UnspecifiedMatching DOID:0111270 isolated sulfite oxidase deficiency oboInOwl:hasDbXref MESH:C538141 semapv:UnspecifiedMatching -DOID:0111270 isolated sulfite oxidase deficiency oboInOwl:hasDbXref OMIM:272300 semapv:UnspecifiedMatching DOID:0111270 isolated sulfite oxidase deficiency oboInOwl:hasDbXref ORDO:99731 semapv:UnspecifiedMatching DOID:0111270 isolated sulfite oxidase deficiency oboInOwl:hasDbXref UMLS:C0268624 semapv:UnspecifiedMatching DOID:0111270 isolated sulfite oxidase deficiency oboInOwl:hasDbXref UMLS:C2931746 semapv:UnspecifiedMatching -DOID:0111270 isolated sulfite oxidase deficiency skos:exactMatch OMIM:272300 semapv:UnspecifiedMatching DOID:0111271 Oliver-McFarlane syndrome oboInOwl:hasDbXref GARD:5266 semapv:UnspecifiedMatching DOID:0111271 Oliver-McFarlane syndrome oboInOwl:hasDbXref MESH:C536554 semapv:UnspecifiedMatching -DOID:0111271 Oliver-McFarlane syndrome oboInOwl:hasDbXref OMIM:275400 semapv:UnspecifiedMatching DOID:0111271 Oliver-McFarlane syndrome oboInOwl:hasDbXref ORDO:3363 semapv:UnspecifiedMatching DOID:0111271 Oliver-McFarlane syndrome oboInOwl:hasDbXref UMLS:C1848745 semapv:UnspecifiedMatching -DOID:0111271 Oliver-McFarlane syndrome skos:exactMatch OMIM:275400 semapv:UnspecifiedMatching DOID:0111272 occipital horn syndrome oboInOwl:hasDbXref GARD:4017 semapv:UnspecifiedMatching DOID:0111272 occipital horn syndrome oboInOwl:hasDbXref MESH:C537860 semapv:UnspecifiedMatching -DOID:0111272 occipital horn syndrome oboInOwl:hasDbXref OMIM:304150 semapv:UnspecifiedMatching DOID:0111272 occipital horn syndrome oboInOwl:hasDbXref ORDO:198 semapv:UnspecifiedMatching DOID:0111272 occipital horn syndrome oboInOwl:hasDbXref UMLS:C0268353 semapv:UnspecifiedMatching -DOID:0111272 occipital horn syndrome skos:exactMatch OMIM:304150 semapv:UnspecifiedMatching DOID:0111273 NARP syndrome oboInOwl:hasDbXref GARD:262 semapv:UnspecifiedMatching DOID:0111273 NARP syndrome oboInOwl:hasDbXref MEDDRA:10062940 semapv:UnspecifiedMatching DOID:0111273 NARP syndrome oboInOwl:hasDbXref MESH:C537396 semapv:UnspecifiedMatching -DOID:0111273 NARP syndrome oboInOwl:hasDbXref OMIM:551500 semapv:UnspecifiedMatching DOID:0111273 NARP syndrome oboInOwl:hasDbXref ORDO:644 semapv:UnspecifiedMatching DOID:0111273 NARP syndrome oboInOwl:hasDbXref UMLS:C1328349 semapv:UnspecifiedMatching -DOID:0111273 NARP syndrome skos:exactMatch OMIM:551500 semapv:UnspecifiedMatching DOID:0111274 CODAS syndrome oboInOwl:hasDbXref GARD:1418 semapv:UnspecifiedMatching DOID:0111274 CODAS syndrome oboInOwl:hasDbXref MESH:C536434 semapv:UnspecifiedMatching DOID:0111274 CODAS syndrome oboInOwl:hasDbXref NCI:C126744 semapv:UnspecifiedMatching -DOID:0111274 CODAS syndrome oboInOwl:hasDbXref OMIM:600373 semapv:UnspecifiedMatching DOID:0111274 CODAS syndrome oboInOwl:hasDbXref ORDO:1458 semapv:UnspecifiedMatching DOID:0111274 CODAS syndrome oboInOwl:hasDbXref UMLS:C1838180 semapv:UnspecifiedMatching -DOID:0111274 CODAS syndrome skos:exactMatch OMIM:600373 semapv:UnspecifiedMatching DOID:0111275 speech-language disorder-1 oboInOwl:hasDbXref GARD:12889 semapv:UnspecifiedMatching -DOID:0111275 speech-language disorder-1 oboInOwl:hasDbXref OMIM:602081 semapv:UnspecifiedMatching DOID:0111275 speech-language disorder-1 oboInOwl:hasDbXref ORDO:209908 semapv:UnspecifiedMatching -DOID:0111275 speech-language disorder-1 skos:exactMatch OMIM:602081 semapv:UnspecifiedMatching DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis oboInOwl:hasDbXref MESH:C537583 semapv:UnspecifiedMatching -DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis oboInOwl:hasDbXref OMIM:607459 semapv:UnspecifiedMatching DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis oboInOwl:hasDbXref ORDO:70595 semapv:UnspecifiedMatching DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis oboInOwl:hasDbXref UMLS:C1843851 semapv:UnspecifiedMatching -DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:exactMatch OMIM:607459 semapv:UnspecifiedMatching DOID:0111277 mitochondrial trifunctional protein deficiency oboInOwl:hasDbXref GARD:3684 semapv:UnspecifiedMatching DOID:0111277 mitochondrial trifunctional protein deficiency oboInOwl:hasDbXref MESH:C566945 semapv:UnspecifiedMatching DOID:0111277 mitochondrial trifunctional protein deficiency oboInOwl:hasDbXref NCI:C98991 semapv:UnspecifiedMatching -DOID:0111277 mitochondrial trifunctional protein deficiency oboInOwl:hasDbXref OMIM:609015 semapv:UnspecifiedMatching DOID:0111277 mitochondrial trifunctional protein deficiency oboInOwl:hasDbXref ORDO:746 semapv:UnspecifiedMatching DOID:0111277 mitochondrial trifunctional protein deficiency oboInOwl:hasDbXref UMLS:C1969443 semapv:UnspecifiedMatching -DOID:0111277 mitochondrial trifunctional protein deficiency skos:exactMatch OMIM:609015 semapv:UnspecifiedMatching DOID:0111278 histiocytosis-lymphadenopathy plus syndrome oboInOwl:hasDbXref GARD:7588 semapv:UnspecifiedMatching DOID:0111278 histiocytosis-lymphadenopathy plus syndrome oboInOwl:hasDbXref ICDO:9749/3 semapv:UnspecifiedMatching DOID:0111278 histiocytosis-lymphadenopathy plus syndrome oboInOwl:hasDbXref NCI:C36075 semapv:UnspecifiedMatching -DOID:0111278 histiocytosis-lymphadenopathy plus syndrome oboInOwl:hasDbXref OMIM:602782 semapv:UnspecifiedMatching -DOID:0111278 histiocytosis-lymphadenopathy plus syndrome skos:exactMatch OMIM:602782 semapv:UnspecifiedMatching -DOID:0111279 psoriasis 7 oboInOwl:hasDbXref OMIM:605606 semapv:UnspecifiedMatching -DOID:0111279 psoriasis 7 skos:exactMatch OMIM:605606 semapv:UnspecifiedMatching -DOID:0111280 psoriasis 4 oboInOwl:hasDbXref OMIM:603935 semapv:UnspecifiedMatching -DOID:0111280 psoriasis 4 skos:exactMatch OMIM:603935 semapv:UnspecifiedMatching -DOID:0111281 psoriasis 15 oboInOwl:hasDbXref OMIM:616106 semapv:UnspecifiedMatching -DOID:0111281 psoriasis 15 skos:exactMatch OMIM:616106 semapv:UnspecifiedMatching -DOID:0111282 psoriasis 5 oboInOwl:hasDbXref OMIM:604316 semapv:UnspecifiedMatching -DOID:0111282 psoriasis 5 skos:exactMatch OMIM:604316 semapv:UnspecifiedMatching -DOID:0111283 psoriasis 3 oboInOwl:hasDbXref OMIM:601454 semapv:UnspecifiedMatching -DOID:0111283 psoriasis 3 skos:exactMatch OMIM:601454 semapv:UnspecifiedMatching -DOID:0111284 psoriasis 9 oboInOwl:hasDbXref OMIM:607857 semapv:UnspecifiedMatching -DOID:0111284 psoriasis 9 skos:exactMatch OMIM:607857 semapv:UnspecifiedMatching -DOID:0111285 psoriasis 11 oboInOwl:hasDbXref OMIM:612599 semapv:UnspecifiedMatching -DOID:0111285 psoriasis 11 skos:exactMatch OMIM:612599 semapv:UnspecifiedMatching -DOID:0111286 psoriasis 1 oboInOwl:hasDbXref OMIM:177900 semapv:UnspecifiedMatching -DOID:0111286 psoriasis 1 skos:exactMatch OMIM:177900 semapv:UnspecifiedMatching -DOID:0111287 psoriasis 13 oboInOwl:hasDbXref OMIM:614070 semapv:UnspecifiedMatching -DOID:0111287 psoriasis 13 skos:exactMatch OMIM:614070 semapv:UnspecifiedMatching -DOID:0111288 psoriasis 8 oboInOwl:hasDbXref OMIM:610707 semapv:UnspecifiedMatching -DOID:0111288 psoriasis 8 skos:exactMatch OMIM:610707 semapv:UnspecifiedMatching -DOID:0111289 psoriasis 10 oboInOwl:hasDbXref OMIM:612410 semapv:UnspecifiedMatching -DOID:0111289 psoriasis 10 skos:exactMatch OMIM:612410 semapv:UnspecifiedMatching -DOID:0111290 psoriasis 6 oboInOwl:hasDbXref OMIM:605364 semapv:UnspecifiedMatching -DOID:0111290 psoriasis 6 skos:exactMatch OMIM:605364 semapv:UnspecifiedMatching -DOID:0111291 psoriasis 12 oboInOwl:hasDbXref OMIM:612950 semapv:UnspecifiedMatching -DOID:0111291 psoriasis 12 skos:exactMatch OMIM:612950 semapv:UnspecifiedMatching -DOID:0111292 idiopathic generalized epilepsy 10 oboInOwl:hasDbXref OMIM:613060 semapv:UnspecifiedMatching -DOID:0111292 idiopathic generalized epilepsy 10 skos:exactMatch OMIM:613060 semapv:UnspecifiedMatching -DOID:0111293 generalized epilepsy with febrile seizures plus 4 oboInOwl:hasDbXref OMIM:609800 semapv:UnspecifiedMatching -DOID:0111293 generalized epilepsy with febrile seizures plus 4 skos:exactMatch OMIM:609800 semapv:UnspecifiedMatching -DOID:0111294 generalized epilepsy with febrile seizures plus 2 oboInOwl:hasDbXref OMIM:604403 semapv:UnspecifiedMatching -DOID:0111294 generalized epilepsy with febrile seizures plus 2 skos:exactMatch OMIM:604403 semapv:UnspecifiedMatching DOID:0111295 generalized epilepsy with febrile seizures plus 7 oboInOwl:hasDbXref MESH:C567827 semapv:UnspecifiedMatching -DOID:0111295 generalized epilepsy with febrile seizures plus 7 oboInOwl:hasDbXref OMIM:613863 semapv:UnspecifiedMatching -DOID:0111295 generalized epilepsy with febrile seizures plus 7 skos:exactMatch OMIM:613863 semapv:UnspecifiedMatching -DOID:0111296 generalized epilepsy with febrile seizures plus 10 oboInOwl:hasDbXref OMIM:618482 semapv:UnspecifiedMatching -DOID:0111296 generalized epilepsy with febrile seizures plus 10 skos:exactMatch OMIM:618482 semapv:UnspecifiedMatching -DOID:0111297 familial febrile seizures oboInOwl:hasDbXref OMIMPS:121210 semapv:UnspecifiedMatching -DOID:0111297 familial febrile seizures skos:exactMatch OMIMPS:121210 semapv:UnspecifiedMatching -DOID:0111298 familial febrile seizures 8 oboInOwl:hasDbXref OMIM:607681 semapv:UnspecifiedMatching -DOID:0111298 familial febrile seizures 8 skos:exactMatch OMIM:607681 semapv:UnspecifiedMatching -DOID:0111299 generalized epilepsy with febrile seizures plus 8 oboInOwl:hasDbXref OMIM:613828 semapv:UnspecifiedMatching -DOID:0111299 generalized epilepsy with febrile seizures plus 8 skos:exactMatch OMIM:613828 semapv:UnspecifiedMatching -DOID:0111300 generalized epilepsy with febrile seizures plus 6 oboInOwl:hasDbXref OMIM:612279 semapv:UnspecifiedMatching -DOID:0111300 generalized epilepsy with febrile seizures plus 6 skos:exactMatch OMIM:612279 semapv:UnspecifiedMatching -DOID:0111301 generalized epilepsy with febrile seizures plus 9 oboInOwl:hasDbXref OMIM:616172 semapv:UnspecifiedMatching -DOID:0111301 generalized epilepsy with febrile seizures plus 9 skos:exactMatch OMIM:616172 semapv:UnspecifiedMatching -DOID:0111302 generalized epilepsy with febrile seizures plus 1 oboInOwl:hasDbXref OMIM:604233 semapv:UnspecifiedMatching -DOID:0111302 generalized epilepsy with febrile seizures plus 1 skos:exactMatch OMIM:604233 semapv:UnspecifiedMatching -DOID:0111303 familial febrile seizures 9 oboInOwl:hasDbXref OMIM:611634 semapv:UnspecifiedMatching -DOID:0111303 familial febrile seizures 9 skos:exactMatch OMIM:611634 semapv:UnspecifiedMatching -DOID:0111304 familial febrile seizures 10 oboInOwl:hasDbXref OMIM:612637 semapv:UnspecifiedMatching -DOID:0111304 familial febrile seizures 10 skos:exactMatch OMIM:612637 semapv:UnspecifiedMatching -DOID:0111305 familial febrile seizures 4 oboInOwl:hasDbXref OMIM:604352 semapv:UnspecifiedMatching -DOID:0111305 familial febrile seizures 4 skos:exactMatch OMIM:604352 semapv:UnspecifiedMatching -DOID:0111306 familial febrile seizures 5 oboInOwl:hasDbXref OMIM:609255 semapv:UnspecifiedMatching -DOID:0111306 familial febrile seizures 5 skos:exactMatch OMIM:609255 semapv:UnspecifiedMatching -DOID:0111307 familial febrile seizures 1 oboInOwl:hasDbXref OMIM:121210 semapv:UnspecifiedMatching -DOID:0111307 familial febrile seizures 1 skos:exactMatch OMIM:121210 semapv:UnspecifiedMatching -DOID:0111308 familial febrile seizures 11 oboInOwl:hasDbXref OMIM:614418 semapv:UnspecifiedMatching -DOID:0111308 familial febrile seizures 11 skos:exactMatch OMIM:614418 semapv:UnspecifiedMatching -DOID:0111309 familial febrile seizures 6 oboInOwl:hasDbXref OMIM:609253 semapv:UnspecifiedMatching -DOID:0111309 familial febrile seizures 6 skos:exactMatch OMIM:609253 semapv:UnspecifiedMatching -DOID:0111310 familial febrile seizures 2 oboInOwl:hasDbXref OMIM:602477 semapv:UnspecifiedMatching -DOID:0111310 familial febrile seizures 2 skos:exactMatch OMIM:602477 semapv:UnspecifiedMatching -DOID:0111311 familial febrile seizures 7 oboInOwl:hasDbXref OMIM:611515 semapv:UnspecifiedMatching -DOID:0111311 familial febrile seizures 7 skos:exactMatch OMIM:611515 semapv:UnspecifiedMatching -DOID:0111312 idiopathic generalized epilepsy 11 oboInOwl:hasDbXref OMIM:607628 semapv:UnspecifiedMatching -DOID:0111312 idiopathic generalized epilepsy 11 skos:exactMatch OMIM:607628 semapv:UnspecifiedMatching -DOID:0111313 idiopathic generalized epilepsy 12 oboInOwl:hasDbXref OMIM:614847 semapv:UnspecifiedMatching -DOID:0111313 idiopathic generalized epilepsy 12 skos:exactMatch OMIM:614847 semapv:UnspecifiedMatching -DOID:0111314 idiopathic generalized epilepsy 13 oboInOwl:hasDbXref OMIM:611136 semapv:UnspecifiedMatching -DOID:0111314 idiopathic generalized epilepsy 13 skos:exactMatch OMIM:611136 semapv:UnspecifiedMatching -DOID:0111315 idiopathic generalized epilepsy 14 oboInOwl:hasDbXref OMIM:616685 semapv:UnspecifiedMatching -DOID:0111315 idiopathic generalized epilepsy 14 skos:exactMatch OMIM:616685 semapv:UnspecifiedMatching -DOID:0111316 idiopathic generalized epilepsy 15 oboInOwl:hasDbXref OMIM:618357 semapv:UnspecifiedMatching -DOID:0111316 idiopathic generalized epilepsy 15 skos:exactMatch OMIM:618357 semapv:UnspecifiedMatching -DOID:0111317 idiopathic generalized epilepsy 2 oboInOwl:hasDbXref OMIM:606972 semapv:UnspecifiedMatching -DOID:0111317 idiopathic generalized epilepsy 2 skos:exactMatch OMIM:606972 semapv:UnspecifiedMatching -DOID:0111318 idiopathic generalized epilepsy 3 oboInOwl:hasDbXref OMIM:608762 semapv:UnspecifiedMatching -DOID:0111318 idiopathic generalized epilepsy 3 skos:exactMatch OMIM:608762 semapv:UnspecifiedMatching -DOID:0111319 idiopathic generalized epilepsy 4 oboInOwl:hasDbXref OMIM:609750 semapv:UnspecifiedMatching -DOID:0111319 idiopathic generalized epilepsy 4 skos:exactMatch OMIM:609750 semapv:UnspecifiedMatching -DOID:0111320 idiopathic generalized epilepsy 5 oboInOwl:hasDbXref OMIM:611934 semapv:UnspecifiedMatching -DOID:0111320 idiopathic generalized epilepsy 5 skos:exactMatch OMIM:611934 semapv:UnspecifiedMatching -DOID:0111321 idiopathic generalized epilepsy 7 oboInOwl:hasDbXref OMIM:604827 semapv:UnspecifiedMatching -DOID:0111321 idiopathic generalized epilepsy 7 skos:exactMatch OMIM:604827 semapv:UnspecifiedMatching -DOID:0111322 idiopathic generalized epilepsy 8 oboInOwl:hasDbXref OMIM:612899 semapv:UnspecifiedMatching -DOID:0111322 idiopathic generalized epilepsy 8 skos:exactMatch OMIM:612899 semapv:UnspecifiedMatching -DOID:0111323 idiopathic generalized epilepsy 9 oboInOwl:hasDbXref OMIM:607682 semapv:UnspecifiedMatching -DOID:0111323 idiopathic generalized epilepsy 9 skos:exactMatch OMIM:607682 semapv:UnspecifiedMatching -DOID:0111324 juvenile absence epilepsy 1 oboInOwl:hasDbXref OMIM:607631 semapv:UnspecifiedMatching -DOID:0111324 juvenile absence epilepsy 1 skos:exactMatch OMIM:607631 semapv:UnspecifiedMatching -DOID:0111325 juvenile myoclonic epilepsy 10 oboInOwl:hasDbXref OMIM:617924 semapv:UnspecifiedMatching -DOID:0111325 juvenile myoclonic epilepsy 10 skos:exactMatch OMIM:617924 semapv:UnspecifiedMatching -DOID:0111326 juvenile myoclonic epilepsy 3 oboInOwl:hasDbXref OMIM:608816 semapv:UnspecifiedMatching -DOID:0111326 juvenile myoclonic epilepsy 3 skos:exactMatch OMIM:608816 semapv:UnspecifiedMatching -DOID:0111327 juvenile myoclonic epilepsy 4 oboInOwl:hasDbXref OMIM:611364 semapv:UnspecifiedMatching -DOID:0111327 juvenile myoclonic epilepsy 4 skos:exactMatch OMIM:611364 semapv:UnspecifiedMatching -DOID:0111328 juvenile myoclonic epilepsy 9 oboInOwl:hasDbXref OMIM:614280 semapv:UnspecifiedMatching -DOID:0111328 juvenile myoclonic epilepsy 9 skos:exactMatch OMIM:614280 semapv:UnspecifiedMatching DOID:0111329 pyridoxamine 5'-phosphate oxidase deficiency oboInOwl:hasDbXref GARD:10730 semapv:UnspecifiedMatching DOID:0111329 pyridoxamine 5'-phosphate oxidase deficiency oboInOwl:hasDbXref MESH:C566449 semapv:UnspecifiedMatching -DOID:0111329 pyridoxamine 5'-phosphate oxidase deficiency oboInOwl:hasDbXref OMIM:610090 semapv:UnspecifiedMatching DOID:0111329 pyridoxamine 5'-phosphate oxidase deficiency oboInOwl:hasDbXref ORDO:79096 semapv:UnspecifiedMatching DOID:0111329 pyridoxamine 5'-phosphate oxidase deficiency oboInOwl:hasDbXref UMLS:C1864723 semapv:UnspecifiedMatching -DOID:0111329 pyridoxamine 5'-phosphate oxidase deficiency skos:exactMatch OMIM:610090 semapv:UnspecifiedMatching DOID:0111330 combined saposin deficiency oboInOwl:hasDbXref MESH:C567125 semapv:UnspecifiedMatching -DOID:0111330 combined saposin deficiency oboInOwl:hasDbXref OMIM:611721 semapv:UnspecifiedMatching DOID:0111330 combined saposin deficiency oboInOwl:hasDbXref ORDO:139406 semapv:UnspecifiedMatching -DOID:0111330 combined saposin deficiency skos:exactMatch OMIM:611721 semapv:UnspecifiedMatching DOID:0111331 intellectual disability-severe speech delay-mild dysmorphism syndrome oboInOwl:hasDbXref GARD:12501 semapv:UnspecifiedMatching -DOID:0111331 intellectual disability-severe speech delay-mild dysmorphism syndrome oboInOwl:hasDbXref OMIM:613670 semapv:UnspecifiedMatching DOID:0111331 intellectual disability-severe speech delay-mild dysmorphism syndrome oboInOwl:hasDbXref ORDO:391372 semapv:UnspecifiedMatching -DOID:0111331 intellectual disability-severe speech delay-mild dysmorphism syndrome skos:exactMatch OMIM:613670 semapv:UnspecifiedMatching -DOID:0111332 Pitt-Hopkins-like syndrome 2 oboInOwl:hasDbXref OMIM:614325 semapv:UnspecifiedMatching -DOID:0111332 Pitt-Hopkins-like syndrome 2 skos:exactMatch OMIM:614325 semapv:UnspecifiedMatching DOID:0111333 early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome oboInOwl:hasDbXref GARD:12199 semapv:UnspecifiedMatching -DOID:0111333 early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome oboInOwl:hasDbXref OMIM:614399 semapv:UnspecifiedMatching DOID:0111333 early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome oboInOwl:hasDbXref ORDO:439212 semapv:UnspecifiedMatching -DOID:0111333 early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome skos:exactMatch OMIM:614399 semapv:UnspecifiedMatching -DOID:0111334 congenital leptin deficiency oboInOwl:hasDbXref OMIM:614962 semapv:UnspecifiedMatching DOID:0111334 congenital leptin deficiency oboInOwl:hasDbXref ORDO:66628 semapv:UnspecifiedMatching -DOID:0111334 congenital leptin deficiency skos:exactMatch OMIM:614962 semapv:UnspecifiedMatching DOID:0111335 myopathy with extrapyramidal signs oboInOwl:hasDbXref GARD:12978 semapv:UnspecifiedMatching -DOID:0111335 myopathy with extrapyramidal signs oboInOwl:hasDbXref OMIM:615673 semapv:UnspecifiedMatching DOID:0111335 myopathy with extrapyramidal signs oboInOwl:hasDbXref ORDO:401768 semapv:UnspecifiedMatching -DOID:0111335 myopathy with extrapyramidal signs skos:exactMatch OMIM:615673 semapv:UnspecifiedMatching DOID:0111336 craniofacial-deafness-hand syndrome oboInOwl:hasDbXref GARD:1571 semapv:UnspecifiedMatching DOID:0111336 craniofacial-deafness-hand syndrome oboInOwl:hasDbXref MESH:C536453 semapv:UnspecifiedMatching -DOID:0111336 craniofacial-deafness-hand syndrome oboInOwl:hasDbXref OMIM:122880 semapv:UnspecifiedMatching DOID:0111336 craniofacial-deafness-hand syndrome oboInOwl:hasDbXref ORDO:1529 semapv:UnspecifiedMatching DOID:0111336 craniofacial-deafness-hand syndrome oboInOwl:hasDbXref UMLS:C1852510 semapv:UnspecifiedMatching -DOID:0111336 craniofacial-deafness-hand syndrome skos:exactMatch OMIM:122880 semapv:UnspecifiedMatching DOID:0111337 Jackson-Weiss syndrome oboInOwl:hasDbXref GARD:6796 semapv:UnspecifiedMatching DOID:0111337 Jackson-Weiss syndrome oboInOwl:hasDbXref MESH:C537559 semapv:UnspecifiedMatching DOID:0111337 Jackson-Weiss syndrome oboInOwl:hasDbXref NCI:C123814 semapv:UnspecifiedMatching -DOID:0111337 Jackson-Weiss syndrome oboInOwl:hasDbXref OMIM:123150 semapv:UnspecifiedMatching DOID:0111337 Jackson-Weiss syndrome oboInOwl:hasDbXref ORDO:1540 semapv:UnspecifiedMatching DOID:0111337 Jackson-Weiss syndrome oboInOwl:hasDbXref UMLS:C0795998 semapv:UnspecifiedMatching -DOID:0111337 Jackson-Weiss syndrome skos:exactMatch OMIM:123150 semapv:UnspecifiedMatching -DOID:0111338 isolated elevated serum creatine phosphokinase levels oboInOwl:hasDbXref OMIM:123320 semapv:UnspecifiedMatching -DOID:0111338 isolated elevated serum creatine phosphokinase levels skos:exactMatch OMIM:123320 semapv:UnspecifiedMatching DOID:0111339 Vohwinkel syndrome oboInOwl:hasDbXref MESH:C536457 semapv:UnspecifiedMatching -DOID:0111339 Vohwinkel syndrome oboInOwl:hasDbXref OMIM:124500 semapv:UnspecifiedMatching DOID:0111339 Vohwinkel syndrome oboInOwl:hasDbXref ORDO:3092 semapv:UnspecifiedMatching DOID:0111339 Vohwinkel syndrome oboInOwl:hasDbXref ORDO:494 semapv:UnspecifiedMatching DOID:0111339 Vohwinkel syndrome oboInOwl:hasDbXref UMLS:C0265964 semapv:UnspecifiedMatching -DOID:0111339 Vohwinkel syndrome skos:exactMatch OMIM:124500 semapv:UnspecifiedMatching DOID:0111340 dominant optic atrophy plus syndrome oboInOwl:hasDbXref GARD:5243 semapv:UnspecifiedMatching -DOID:0111340 dominant optic atrophy plus syndrome oboInOwl:hasDbXref OMIM:125250 semapv:UnspecifiedMatching DOID:0111340 dominant optic atrophy plus syndrome oboInOwl:hasDbXref UMLS:C3276549 semapv:UnspecifiedMatching -DOID:0111340 dominant optic atrophy plus syndrome skos:exactMatch OMIM:125250 semapv:UnspecifiedMatching DOID:0111341 primary failure of tooth eruption oboInOwl:hasDbXref MESH:C565114 semapv:UnspecifiedMatching -DOID:0111341 primary failure of tooth eruption oboInOwl:hasDbXref OMIM:125350 semapv:UnspecifiedMatching DOID:0111341 primary failure of tooth eruption oboInOwl:hasDbXref ORDO:412206 semapv:UnspecifiedMatching DOID:0111341 primary failure of tooth eruption oboInOwl:hasDbXref UMLS:C1852222 semapv:UnspecifiedMatching -DOID:0111341 primary failure of tooth eruption skos:exactMatch OMIM:125350 semapv:UnspecifiedMatching DOID:0111342 dermatopathia pigmentosa reticularis oboInOwl:hasDbXref GARD:8550 semapv:UnspecifiedMatching DOID:0111342 dermatopathia pigmentosa reticularis oboInOwl:hasDbXref MESH:C535374 semapv:UnspecifiedMatching -DOID:0111342 dermatopathia pigmentosa reticularis oboInOwl:hasDbXref OMIM:125595 semapv:UnspecifiedMatching DOID:0111342 dermatopathia pigmentosa reticularis oboInOwl:hasDbXref ORDO:86920 semapv:UnspecifiedMatching DOID:0111342 dermatopathia pigmentosa reticularis oboInOwl:hasDbXref UMLS:C0406778 semapv:UnspecifiedMatching -DOID:0111342 dermatopathia pigmentosa reticularis skos:exactMatch OMIM:125595 semapv:UnspecifiedMatching DOID:0111343 lateral meningocele syndrome oboInOwl:hasDbXref GARD:9873 semapv:UnspecifiedMatching DOID:0111343 lateral meningocele syndrome oboInOwl:hasDbXref MESH:C537878 semapv:UnspecifiedMatching -DOID:0111343 lateral meningocele syndrome oboInOwl:hasDbXref OMIM:130720 semapv:UnspecifiedMatching DOID:0111343 lateral meningocele syndrome oboInOwl:hasDbXref ORDO:2789 semapv:UnspecifiedMatching DOID:0111343 lateral meningocele syndrome oboInOwl:hasDbXref UMLS:C1851710 semapv:UnspecifiedMatching -DOID:0111343 lateral meningocele syndrome skos:exactMatch OMIM:130720 semapv:UnspecifiedMatching -DOID:0111344 myeloproliferative disorder with eosinophilia oboInOwl:hasDbXref OMIM:131440 semapv:UnspecifiedMatching -DOID:0111344 myeloproliferative disorder with eosinophilia skos:exactMatch OMIM:131440 semapv:UnspecifiedMatching DOID:0111345 transient bullous dermolysis of the newborn oboInOwl:hasDbXref GARD:10010 semapv:UnspecifiedMatching DOID:0111345 transient bullous dermolysis of the newborn oboInOwl:hasDbXref MESH:C536979 semapv:UnspecifiedMatching -DOID:0111345 transient bullous dermolysis of the newborn oboInOwl:hasDbXref OMIM:131705 semapv:UnspecifiedMatching DOID:0111345 transient bullous dermolysis of the newborn oboInOwl:hasDbXref ORDO:79411 semapv:UnspecifiedMatching DOID:0111345 transient bullous dermolysis of the newborn oboInOwl:hasDbXref UMLS:C1851573 semapv:UnspecifiedMatching -DOID:0111345 transient bullous dermolysis of the newborn skos:exactMatch OMIM:131705 semapv:UnspecifiedMatching DOID:0111346 epidermolysis bullosa simplex with mottled pigmentation oboInOwl:hasDbXref GARD:9737 semapv:UnspecifiedMatching DOID:0111346 epidermolysis bullosa simplex with mottled pigmentation oboInOwl:hasDbXref MESH:C535959 semapv:UnspecifiedMatching -DOID:0111346 epidermolysis bullosa simplex with mottled pigmentation oboInOwl:hasDbXref OMIM:131960 semapv:UnspecifiedMatching DOID:0111346 epidermolysis bullosa simplex with mottled pigmentation oboInOwl:hasDbXref ORDO:79397 semapv:UnspecifiedMatching DOID:0111346 epidermolysis bullosa simplex with mottled pigmentation oboInOwl:hasDbXref UMLS:C0432316 semapv:UnspecifiedMatching -DOID:0111346 epidermolysis bullosa simplex with mottled pigmentation skos:exactMatch OMIM:131960 semapv:UnspecifiedMatching DOID:0111347 epidermolysis bullosa with congenital localized absence of skin and deformity of nails oboInOwl:hasDbXref MESH:C562638 semapv:UnspecifiedMatching -DOID:0111347 epidermolysis bullosa with congenital localized absence of skin and deformity of nails oboInOwl:hasDbXref OMIM:132000 semapv:UnspecifiedMatching -DOID:0111347 epidermolysis bullosa with congenital localized absence of skin and deformity of nails skos:exactMatch OMIM:132000 semapv:UnspecifiedMatching DOID:0111348 multiple epiphyseal dysplasia with myopia and deafness oboInOwl:hasDbXref MESH:C565046 semapv:UnspecifiedMatching -DOID:0111348 multiple epiphyseal dysplasia with myopia and deafness oboInOwl:hasDbXref OMIM:132450 semapv:UnspecifiedMatching DOID:0111348 multiple epiphyseal dysplasia with myopia and deafness oboInOwl:hasDbXref ORDO:166011 semapv:UnspecifiedMatching DOID:0111348 multiple epiphyseal dysplasia with myopia and deafness oboInOwl:hasDbXref UMLS:C1851536 semapv:UnspecifiedMatching -DOID:0111348 multiple epiphyseal dysplasia with myopia and deafness skos:exactMatch OMIM:132450 semapv:UnspecifiedMatching DOID:0111349 hereditary desmoid disease oboInOwl:hasDbXref MESH:C535944 semapv:UnspecifiedMatching -DOID:0111349 hereditary desmoid disease oboInOwl:hasDbXref OMIM:135290 semapv:UnspecifiedMatching DOID:0111349 hereditary desmoid disease oboInOwl:hasDbXref UMLS:C1851124 semapv:UnspecifiedMatching -DOID:0111349 hereditary desmoid disease skos:exactMatch OMIM:135290 semapv:UnspecifiedMatching DOID:0111350 Laurin-Sandrow syndrome oboInOwl:hasDbXref GARD:155 semapv:UnspecifiedMatching DOID:0111350 Laurin-Sandrow syndrome oboInOwl:hasDbXref MESH:C535689 semapv:UnspecifiedMatching -DOID:0111350 Laurin-Sandrow syndrome oboInOwl:hasDbXref OMIM:135750 semapv:UnspecifiedMatching DOID:0111350 Laurin-Sandrow syndrome oboInOwl:hasDbXref ORDO:2378 semapv:UnspecifiedMatching DOID:0111350 Laurin-Sandrow syndrome oboInOwl:hasDbXref UMLS:C1851100 semapv:UnspecifiedMatching -DOID:0111350 Laurin-Sandrow syndrome skos:exactMatch OMIM:135750 semapv:UnspecifiedMatching -DOID:0111351 D-2-hydroxyglutaric aciduria 1 oboInOwl:hasDbXref OMIM:600721 semapv:UnspecifiedMatching -DOID:0111351 D-2-hydroxyglutaric aciduria 1 skos:exactMatch OMIM:600721 semapv:UnspecifiedMatching -DOID:0111352 D-2-hydroxyglutaric aciduria 2 oboInOwl:hasDbXref OMIM:613657 semapv:UnspecifiedMatching -DOID:0111352 D-2-hydroxyglutaric aciduria 2 skos:exactMatch OMIM:613657 semapv:UnspecifiedMatching -DOID:0111353 arthrogryposis, renal dysfunction, and cholestasis 1 oboInOwl:hasDbXref OMIM:208085 semapv:UnspecifiedMatching -DOID:0111353 arthrogryposis, renal dysfunction, and cholestasis 1 skos:exactMatch OMIM:208085 semapv:UnspecifiedMatching -DOID:0111354 arthrogryposis, renal dysfunction, and cholestasis 2 oboInOwl:hasDbXref OMIM:613404 semapv:UnspecifiedMatching -DOID:0111354 arthrogryposis, renal dysfunction, and cholestasis 2 skos:exactMatch OMIM:613404 semapv:UnspecifiedMatching DOID:0111355 hydrolethalus syndrome 1 oboInOwl:hasDbXref MESH:C565504 semapv:UnspecifiedMatching -DOID:0111355 hydrolethalus syndrome 1 oboInOwl:hasDbXref OMIM:236680 semapv:UnspecifiedMatching -DOID:0111355 hydrolethalus syndrome 1 skos:exactMatch OMIM:236680 semapv:UnspecifiedMatching -DOID:0111356 hydrolethalus syndrome 2 oboInOwl:hasDbXref OMIM:614120 semapv:UnspecifiedMatching -DOID:0111356 hydrolethalus syndrome 2 skos:exactMatch OMIM:614120 semapv:UnspecifiedMatching DOID:0111357 adermatoglyphia oboInOwl:hasDbXref GARD:12550 semapv:UnspecifiedMatching -DOID:0111357 adermatoglyphia oboInOwl:hasDbXref OMIM:136000 semapv:UnspecifiedMatching DOID:0111357 adermatoglyphia oboInOwl:hasDbXref ORDO:289465 semapv:UnspecifiedMatching -DOID:0111357 adermatoglyphia skos:exactMatch OMIM:136000 semapv:UnspecifiedMatching DOID:0111358 Floating-Harbor syndrome oboInOwl:hasDbXref GARD:6455 semapv:UnspecifiedMatching DOID:0111358 Floating-Harbor syndrome oboInOwl:hasDbXref MESH:C537062 semapv:UnspecifiedMatching DOID:0111358 Floating-Harbor syndrome oboInOwl:hasDbXref NCI:C175241 semapv:UnspecifiedMatching -DOID:0111358 Floating-Harbor syndrome oboInOwl:hasDbXref OMIM:136140 semapv:UnspecifiedMatching DOID:0111358 Floating-Harbor syndrome oboInOwl:hasDbXref ORDO:2044 semapv:UnspecifiedMatching DOID:0111358 Floating-Harbor syndrome oboInOwl:hasDbXref UMLS:C0729582 semapv:UnspecifiedMatching -DOID:0111358 Floating-Harbor syndrome skos:exactMatch OMIM:136140 semapv:UnspecifiedMatching DOID:0111359 large congenital melanocytic nevus oboInOwl:hasDbXref GARD:2469 semapv:UnspecifiedMatching DOID:0111359 large congenital melanocytic nevus oboInOwl:hasDbXref MEDDRA:10072036 semapv:UnspecifiedMatching DOID:0111359 large congenital melanocytic nevus oboInOwl:hasDbXref MESH:C536819 semapv:UnspecifiedMatching DOID:0111359 large congenital melanocytic nevus oboInOwl:hasDbXref NCI:C3944 semapv:UnspecifiedMatching DOID:0111359 large congenital melanocytic nevus oboInOwl:hasDbXref NCI:C4234 semapv:UnspecifiedMatching -DOID:0111359 large congenital melanocytic nevus oboInOwl:hasDbXref OMIM:137550 semapv:UnspecifiedMatching DOID:0111359 large congenital melanocytic nevus oboInOwl:hasDbXref ORDO:626 semapv:UnspecifiedMatching DOID:0111359 large congenital melanocytic nevus oboInOwl:hasDbXref UMLS:C1318558 semapv:UnspecifiedMatching DOID:0111359 large congenital melanocytic nevus oboInOwl:hasDbXref UMLS:C1842036 semapv:UnspecifiedMatching -DOID:0111359 large congenital melanocytic nevus skos:exactMatch OMIM:137550 semapv:UnspecifiedMatching -DOID:0111360 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome oboInOwl:hasDbXref OMIM:137940 semapv:UnspecifiedMatching -DOID:0111360 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:exactMatch OMIM:137940 semapv:UnspecifiedMatching DOID:0111361 hypotrichosis-lymphedema-telangiectasia syndrome oboInOwl:hasDbXref MESH:C564327 semapv:UnspecifiedMatching -DOID:0111361 hypotrichosis-lymphedema-telangiectasia syndrome oboInOwl:hasDbXref OMIM:607823 semapv:UnspecifiedMatching -DOID:0111361 hypotrichosis-lymphedema-telangiectasia syndrome skos:exactMatch OMIM:607823 semapv:UnspecifiedMatching DOID:0111362 hawkinsinuria oboInOwl:hasDbXref GARD:5668 semapv:UnspecifiedMatching DOID:0111362 hawkinsinuria oboInOwl:hasDbXref MESH:C535845 semapv:UnspecifiedMatching -DOID:0111362 hawkinsinuria oboInOwl:hasDbXref OMIM:140350 semapv:UnspecifiedMatching DOID:0111362 hawkinsinuria oboInOwl:hasDbXref ORDO:2118 semapv:UnspecifiedMatching DOID:0111362 hawkinsinuria oboInOwl:hasDbXref UMLS:C2931042 semapv:UnspecifiedMatching -DOID:0111362 hawkinsinuria skos:exactMatch OMIM:140350 semapv:UnspecifiedMatching DOID:0111363 Heinz body anemia oboInOwl:hasDbXref GARD:10718 semapv:UnspecifiedMatching -DOID:0111363 Heinz body anemia oboInOwl:hasDbXref OMIM:140700 semapv:UnspecifiedMatching -DOID:0111363 Heinz body anemia skos:exactMatch OMIM:140700 semapv:UnspecifiedMatching -DOID:0111364 Alzheimer's disease 9 oboInOwl:hasDbXref OMIM:608907 semapv:UnspecifiedMatching -DOID:0111364 Alzheimer's disease 9 skos:exactMatch OMIM:608907 semapv:UnspecifiedMatching -DOID:0111365 benign familial hematuria oboInOwl:hasDbXref OMIM:141200 semapv:UnspecifiedMatching -DOID:0111365 benign familial hematuria skos:exactMatch OMIM:141200 semapv:UnspecifiedMatching -DOID:0111366 familial hepatic adenoma oboInOwl:hasDbXref OMIM:142330 semapv:UnspecifiedMatching -DOID:0111366 familial hepatic adenoma skos:exactMatch OMIM:142330 semapv:UnspecifiedMatching DOID:0111367 Beukes hip dysplasia oboInOwl:hasDbXref GARD:2690 semapv:UnspecifiedMatching DOID:0111367 Beukes hip dysplasia oboInOwl:hasDbXref MESH:C564185 semapv:UnspecifiedMatching -DOID:0111367 Beukes hip dysplasia oboInOwl:hasDbXref OMIM:142669 semapv:UnspecifiedMatching DOID:0111367 Beukes hip dysplasia oboInOwl:hasDbXref ORDO:2114 semapv:UnspecifiedMatching DOID:0111367 Beukes hip dysplasia oboInOwl:hasDbXref UMLS:C1840572 semapv:UnspecifiedMatching -DOID:0111367 Beukes hip dysplasia skos:exactMatch OMIM:142669 semapv:UnspecifiedMatching DOID:0111368 cholesterol-ester transfer protein deficiency oboInOwl:hasDbXref ORDO:79506 semapv:UnspecifiedMatching DOID:0111369 hyperalphalipoproteinemia 1 oboInOwl:hasDbXref MESH:C564591 semapv:UnspecifiedMatching DOID:0111369 hyperalphalipoproteinemia 1 oboInOwl:hasDbXref NCI:C128806 semapv:UnspecifiedMatching -DOID:0111369 hyperalphalipoproteinemia 1 oboInOwl:hasDbXref OMIM:143470 semapv:UnspecifiedMatching DOID:0111369 hyperalphalipoproteinemia 1 oboInOwl:hasDbXref UMLS:C0342883 semapv:UnspecifiedMatching -DOID:0111369 hyperalphalipoproteinemia 1 skos:exactMatch OMIM:143470 semapv:UnspecifiedMatching DOID:0111370 apolipoprotein C-III deficiency oboInOwl:hasDbXref MESH:C566270 semapv:UnspecifiedMatching -DOID:0111370 apolipoprotein C-III deficiency oboInOwl:hasDbXref OMIM:614028 semapv:UnspecifiedMatching -DOID:0111370 apolipoprotein C-III deficiency skos:exactMatch OMIM:614028 semapv:UnspecifiedMatching -DOID:0111371 isolated hyperchlorhidrosis oboInOwl:hasDbXref OMIM:143860 semapv:UnspecifiedMatching DOID:0111371 isolated hyperchlorhidrosis oboInOwl:hasDbXref ORDO:542657 semapv:UnspecifiedMatching DOID:0111371 isolated hyperchlorhidrosis oboInOwl:hasDbXref UMLS:C1840437 semapv:UnspecifiedMatching -DOID:0111371 isolated hyperchlorhidrosis skos:exactMatch OMIM:143860 semapv:UnspecifiedMatching -DOID:0111373 familial progressive hyperpigmentation with or without hypopigmentation oboInOwl:hasDbXref OMIM:145250 semapv:UnspecifiedMatching -DOID:0111373 familial progressive hyperpigmentation with or without hypopigmentation skos:exactMatch OMIM:145250 semapv:UnspecifiedMatching DOID:0111374 selective pituitary thyroid hormone resistance oboInOwl:hasDbXref MESH:C564154 semapv:UnspecifiedMatching -DOID:0111374 selective pituitary thyroid hormone resistance oboInOwl:hasDbXref OMIM:145650 semapv:UnspecifiedMatching DOID:0111374 selective pituitary thyroid hormone resistance oboInOwl:hasDbXref ORDO:165994 semapv:UnspecifiedMatching DOID:0111374 selective pituitary thyroid hormone resistance oboInOwl:hasDbXref UMLS:C1840364 semapv:UnspecifiedMatching -DOID:0111374 selective pituitary thyroid hormone resistance skos:exactMatch OMIM:145650 semapv:UnspecifiedMatching DOID:0111375 fetal akinesia deformation sequence syndrome oboInOwl:hasDbXref GARD:9634 semapv:UnspecifiedMatching DOID:0111375 fetal akinesia deformation sequence syndrome oboInOwl:hasDbXref MESH:C536647 semapv:UnspecifiedMatching DOID:0111375 fetal akinesia deformation sequence syndrome oboInOwl:hasDbXref NCI:C129071 semapv:UnspecifiedMatching -DOID:0111375 fetal akinesia deformation sequence syndrome oboInOwl:hasDbXref OMIMPS:208150 semapv:UnspecifiedMatching DOID:0111375 fetal akinesia deformation sequence syndrome oboInOwl:hasDbXref ORDO:994 semapv:UnspecifiedMatching DOID:0111375 fetal akinesia deformation sequence syndrome oboInOwl:hasDbXref UMLS:C1276035 semapv:UnspecifiedMatching -DOID:0111375 fetal akinesia deformation sequence syndrome skos:exactMatch OMIMPS:208150 semapv:UnspecifiedMatching -DOID:0111376 fetal akinesia deformation sequence syndrome 3 oboInOwl:hasDbXref OMIM:618389 semapv:UnspecifiedMatching -DOID:0111376 fetal akinesia deformation sequence syndrome 3 skos:exactMatch OMIM:618389 semapv:UnspecifiedMatching -DOID:0111377 fetal akinesia deformation sequence syndrome 1 oboInOwl:hasDbXref OMIM:208150 semapv:UnspecifiedMatching -DOID:0111377 fetal akinesia deformation sequence syndrome 1 skos:exactMatch OMIM:208150 semapv:UnspecifiedMatching -DOID:0111378 fetal akinesia deformation sequence syndrome 2 oboInOwl:hasDbXref OMIM:618388 semapv:UnspecifiedMatching -DOID:0111378 fetal akinesia deformation sequence syndrome 2 skos:exactMatch OMIM:618388 semapv:UnspecifiedMatching -DOID:0111379 fetal akinesia deformation sequence syndrome 4 oboInOwl:hasDbXref OMIM:618393 semapv:UnspecifiedMatching -DOID:0111379 fetal akinesia deformation sequence syndrome 4 skos:exactMatch OMIM:618393 semapv:UnspecifiedMatching DOID:0111380 solitary median maxillary central incisor oboInOwl:hasDbXref GARD:4877 semapv:UnspecifiedMatching -DOID:0111380 solitary median maxillary central incisor oboInOwl:hasDbXref OMIM:147250 semapv:UnspecifiedMatching -DOID:0111380 solitary median maxillary central incisor skos:exactMatch OMIM:147250 semapv:UnspecifiedMatching DOID:0111381 IVIC syndrome oboInOwl:hasDbXref GARD:269 semapv:UnspecifiedMatching DOID:0111381 IVIC syndrome oboInOwl:hasDbXref MESH:C535544 semapv:UnspecifiedMatching -DOID:0111381 IVIC syndrome oboInOwl:hasDbXref OMIM:147750 semapv:UnspecifiedMatching DOID:0111381 IVIC syndrome oboInOwl:hasDbXref ORDO:2307 semapv:UnspecifiedMatching DOID:0111381 IVIC syndrome oboInOwl:hasDbXref UMLS:C1327918 semapv:UnspecifiedMatching -DOID:0111381 IVIC syndrome skos:exactMatch OMIM:147750 semapv:UnspecifiedMatching DOID:0111382 ischiocoxopodopatellar syndrome oboInOwl:hasDbXref GARD:3030 semapv:UnspecifiedMatching DOID:0111382 ischiocoxopodopatellar syndrome oboInOwl:hasDbXref MESH:C535540 semapv:UnspecifiedMatching DOID:0111382 ischiocoxopodopatellar syndrome oboInOwl:hasDbXref MESH:C536307 semapv:UnspecifiedMatching -DOID:0111382 ischiocoxopodopatellar syndrome oboInOwl:hasDbXref OMIM:147891 semapv:UnspecifiedMatching DOID:0111382 ischiocoxopodopatellar syndrome oboInOwl:hasDbXref ORDO:1509 semapv:UnspecifiedMatching DOID:0111382 ischiocoxopodopatellar syndrome oboInOwl:hasDbXref UMLS:C1840061 semapv:UnspecifiedMatching DOID:0111382 ischiocoxopodopatellar syndrome oboInOwl:hasDbXref UMLS:C1868581 semapv:UnspecifiedMatching -DOID:0111382 ischiocoxopodopatellar syndrome skos:exactMatch OMIM:147891 semapv:UnspecifiedMatching DOID:0111383 autosomal dominant keratitis oboInOwl:hasDbXref GARD:3089 semapv:UnspecifiedMatching DOID:0111383 autosomal dominant keratitis oboInOwl:hasDbXref MESH:C537022 semapv:UnspecifiedMatching -DOID:0111383 autosomal dominant keratitis oboInOwl:hasDbXref OMIM:148190 semapv:UnspecifiedMatching DOID:0111383 autosomal dominant keratitis oboInOwl:hasDbXref ORDO:2334 semapv:UnspecifiedMatching DOID:0111383 autosomal dominant keratitis oboInOwl:hasDbXref UMLS:C1835698 semapv:UnspecifiedMatching -DOID:0111383 autosomal dominant keratitis skos:exactMatch OMIM:148190 semapv:UnspecifiedMatching -DOID:0111384 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 oboInOwl:hasDbXref OMIM:615422 semapv:UnspecifiedMatching -DOID:0111384 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 skos:exactMatch OMIM:615422 semapv:UnspecifiedMatching -DOID:0111385 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 oboInOwl:hasDbXref OMIM:167320 semapv:UnspecifiedMatching -DOID:0111385 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 skos:exactMatch OMIM:167320 semapv:UnspecifiedMatching -DOID:0111386 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 oboInOwl:hasDbXref OMIM:615424 semapv:UnspecifiedMatching -DOID:0111386 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 skos:exactMatch OMIM:615424 semapv:UnspecifiedMatching -DOID:0111387 familial isolated hypoparathyroidism oboInOwl:hasDbXref OMIM:146200 semapv:UnspecifiedMatching -DOID:0111387 familial isolated hypoparathyroidism skos:exactMatch OMIM:146200 semapv:UnspecifiedMatching -DOID:0111388 X-linked hypoparathyroidism oboInOwl:hasDbXref OMIM:307700 semapv:UnspecifiedMatching -DOID:0111388 X-linked hypoparathyroidism skos:exactMatch OMIM:307700 semapv:UnspecifiedMatching DOID:0111389 mucopolysaccharidosis Ih/s oboInOwl:hasDbXref GARD:12560 semapv:UnspecifiedMatching DOID:0111389 mucopolysaccharidosis Ih/s oboInOwl:hasDbXref ICD10CM:E76.02 semapv:UnspecifiedMatching DOID:0111389 mucopolysaccharidosis Ih/s oboInOwl:hasDbXref MESH:D008059 semapv:UnspecifiedMatching DOID:0111389 mucopolysaccharidosis Ih/s oboInOwl:hasDbXref NCI:C122782 semapv:UnspecifiedMatching -DOID:0111389 mucopolysaccharidosis Ih/s oboInOwl:hasDbXref OMIM:607015 semapv:UnspecifiedMatching DOID:0111389 mucopolysaccharidosis Ih/s oboInOwl:hasDbXref ORDO:93476 semapv:UnspecifiedMatching DOID:0111389 mucopolysaccharidosis Ih/s oboInOwl:hasDbXref UMLS:C0086431 semapv:UnspecifiedMatching -DOID:0111389 mucopolysaccharidosis Ih/s skos:exactMatch OMIM:607015 semapv:UnspecifiedMatching DOID:0111390 mucopolysaccharidosis Ih oboInOwl:hasDbXref GARD:12559 semapv:UnspecifiedMatching DOID:0111390 mucopolysaccharidosis Ih oboInOwl:hasDbXref ICD10CM:E76.01 semapv:UnspecifiedMatching DOID:0111390 mucopolysaccharidosis Ih oboInOwl:hasDbXref MESH:D008059 semapv:UnspecifiedMatching DOID:0111390 mucopolysaccharidosis Ih oboInOwl:hasDbXref NCI:C61261 semapv:UnspecifiedMatching -DOID:0111390 mucopolysaccharidosis Ih oboInOwl:hasDbXref OMIM:607014 semapv:UnspecifiedMatching DOID:0111390 mucopolysaccharidosis Ih oboInOwl:hasDbXref ORDO:93473 semapv:UnspecifiedMatching DOID:0111390 mucopolysaccharidosis Ih oboInOwl:hasDbXref UMLS:C0086795 semapv:UnspecifiedMatching -DOID:0111390 mucopolysaccharidosis Ih skos:exactMatch OMIM:607014 semapv:UnspecifiedMatching DOID:0111391 mucopolysaccharidosis IVA oboInOwl:hasDbXref GARD:3785 semapv:UnspecifiedMatching DOID:0111391 mucopolysaccharidosis IVA oboInOwl:hasDbXref ICD10CM:E76.210 semapv:UnspecifiedMatching DOID:0111391 mucopolysaccharidosis IVA oboInOwl:hasDbXref MESH:D009085 semapv:UnspecifiedMatching DOID:0111391 mucopolysaccharidosis IVA oboInOwl:hasDbXref NCI:C84901 semapv:UnspecifiedMatching -DOID:0111391 mucopolysaccharidosis IVA oboInOwl:hasDbXref OMIM:253000 semapv:UnspecifiedMatching DOID:0111391 mucopolysaccharidosis IVA oboInOwl:hasDbXref ORDO:309297 semapv:UnspecifiedMatching DOID:0111391 mucopolysaccharidosis IVA oboInOwl:hasDbXref UMLS:C0086651 semapv:UnspecifiedMatching -DOID:0111391 mucopolysaccharidosis IVA skos:exactMatch OMIM:253000 semapv:UnspecifiedMatching DOID:0111392 mucopolysaccharidosis type IVB oboInOwl:hasDbXref ICD10CM:E76.211 semapv:UnspecifiedMatching DOID:0111392 mucopolysaccharidosis type IVB oboInOwl:hasDbXref MESH:D009085 semapv:UnspecifiedMatching DOID:0111392 mucopolysaccharidosis type IVB oboInOwl:hasDbXref NCI:C84902 semapv:UnspecifiedMatching -DOID:0111392 mucopolysaccharidosis type IVB oboInOwl:hasDbXref OMIM:253010 semapv:UnspecifiedMatching DOID:0111392 mucopolysaccharidosis type IVB oboInOwl:hasDbXref ORDO:309310 semapv:UnspecifiedMatching DOID:0111392 mucopolysaccharidosis type IVB oboInOwl:hasDbXref UMLS:C0086652 semapv:UnspecifiedMatching -DOID:0111392 mucopolysaccharidosis type IVB skos:exactMatch OMIM:253010 semapv:UnspecifiedMatching DOID:0111393 mucopolysaccharidosis type IIIC oboInOwl:hasDbXref GARD:7073 semapv:UnspecifiedMatching DOID:0111393 mucopolysaccharidosis type IIIC oboInOwl:hasDbXref ICD10CM:E76.22 semapv:UnspecifiedMatching DOID:0111393 mucopolysaccharidosis type IIIC oboInOwl:hasDbXref MESH:D009084 semapv:UnspecifiedMatching DOID:0111393 mucopolysaccharidosis type IIIC oboInOwl:hasDbXref NCI:C84899 semapv:UnspecifiedMatching -DOID:0111393 mucopolysaccharidosis type IIIC oboInOwl:hasDbXref OMIM:252930 semapv:UnspecifiedMatching DOID:0111393 mucopolysaccharidosis type IIIC oboInOwl:hasDbXref ORDO:79271 semapv:UnspecifiedMatching DOID:0111393 mucopolysaccharidosis type IIIC oboInOwl:hasDbXref UMLS:C0086649 semapv:UnspecifiedMatching -DOID:0111393 mucopolysaccharidosis type IIIC skos:exactMatch OMIM:252930 semapv:UnspecifiedMatching DOID:0111394 mucopolysaccharidosis type IIIB oboInOwl:hasDbXref GARD:7072 semapv:UnspecifiedMatching DOID:0111394 mucopolysaccharidosis type IIIB oboInOwl:hasDbXref ICD10CM:E76.22 semapv:UnspecifiedMatching DOID:0111394 mucopolysaccharidosis type IIIB oboInOwl:hasDbXref MESH:D009084 semapv:UnspecifiedMatching DOID:0111394 mucopolysaccharidosis type IIIB oboInOwl:hasDbXref NCI:C84898 semapv:UnspecifiedMatching -DOID:0111394 mucopolysaccharidosis type IIIB oboInOwl:hasDbXref OMIM:252920 semapv:UnspecifiedMatching DOID:0111394 mucopolysaccharidosis type IIIB oboInOwl:hasDbXref ORDO:79270 semapv:UnspecifiedMatching DOID:0111394 mucopolysaccharidosis type IIIB oboInOwl:hasDbXref UMLS:C0086648 semapv:UnspecifiedMatching -DOID:0111394 mucopolysaccharidosis type IIIB skos:exactMatch OMIM:252920 semapv:UnspecifiedMatching DOID:0111395 mucopolysaccharidosis type IIIA oboInOwl:hasDbXref ICD10CM:E76.22 semapv:UnspecifiedMatching DOID:0111395 mucopolysaccharidosis type IIIA oboInOwl:hasDbXref MESH:D009084 semapv:UnspecifiedMatching DOID:0111395 mucopolysaccharidosis type IIIA oboInOwl:hasDbXref NCI:C84897 semapv:UnspecifiedMatching -DOID:0111395 mucopolysaccharidosis type IIIA oboInOwl:hasDbXref OMIM:252900 semapv:UnspecifiedMatching DOID:0111395 mucopolysaccharidosis type IIIA oboInOwl:hasDbXref ORDO:79269 semapv:UnspecifiedMatching DOID:0111395 mucopolysaccharidosis type IIIA oboInOwl:hasDbXref UMLS:C0086647 semapv:UnspecifiedMatching -DOID:0111395 mucopolysaccharidosis type IIIA skos:exactMatch OMIM:252900 semapv:UnspecifiedMatching DOID:0111396 congenital dyserythropoietic anemia type I oboInOwl:hasDbXref GARD:2000 semapv:UnspecifiedMatching DOID:0111396 congenital dyserythropoietic anemia type I oboInOwl:hasDbXref ORDO:98869 semapv:UnspecifiedMatching DOID:0111397 congenital dyserythropoietic anemia type Ib oboInOwl:hasDbXref MESH:D000742 semapv:UnspecifiedMatching -DOID:0111397 congenital dyserythropoietic anemia type Ib oboInOwl:hasDbXref OMIM:615631 semapv:UnspecifiedMatching DOID:0111397 congenital dyserythropoietic anemia type Ib oboInOwl:hasDbXref UMLS:C0271933 semapv:UnspecifiedMatching -DOID:0111397 congenital dyserythropoietic anemia type Ib skos:exactMatch OMIM:615631 semapv:UnspecifiedMatching -DOID:0111398 congenital dyserythropoietic anemia type Ia oboInOwl:hasDbXref OMIM:224120 semapv:UnspecifiedMatching -DOID:0111398 congenital dyserythropoietic anemia type Ia skos:exactMatch OMIM:224120 semapv:UnspecifiedMatching DOID:0111399 congenital dyserythropoietic anemia type III oboInOwl:hasDbXref GARD:2002 semapv:UnspecifiedMatching DOID:0111399 congenital dyserythropoietic anemia type III oboInOwl:hasDbXref MESH:D000742 semapv:UnspecifiedMatching -DOID:0111399 congenital dyserythropoietic anemia type III oboInOwl:hasDbXref OMIM:105600 semapv:UnspecifiedMatching DOID:0111399 congenital dyserythropoietic anemia type III oboInOwl:hasDbXref ORDO:98870 semapv:UnspecifiedMatching DOID:0111399 congenital dyserythropoietic anemia type III oboInOwl:hasDbXref UMLS:C0271934 semapv:UnspecifiedMatching -DOID:0111399 congenital dyserythropoietic anemia type III skos:exactMatch OMIM:105600 semapv:UnspecifiedMatching DOID:0111400 congenital dyserythropoietic anemia type IV oboInOwl:hasDbXref NCI:C157148 semapv:UnspecifiedMatching -DOID:0111400 congenital dyserythropoietic anemia type IV oboInOwl:hasDbXref OMIM:613673 semapv:UnspecifiedMatching DOID:0111400 congenital dyserythropoietic anemia type IV oboInOwl:hasDbXref ORDO:293825 semapv:UnspecifiedMatching DOID:0111400 congenital dyserythropoietic anemia type IV oboInOwl:hasDbXref UMLS:C3150926 semapv:UnspecifiedMatching -DOID:0111400 congenital dyserythropoietic anemia type IV skos:exactMatch OMIM:613673 semapv:UnspecifiedMatching DOID:0111401 congenital dyserythropoietic anemia type II oboInOwl:hasDbXref GARD:2001 semapv:UnspecifiedMatching DOID:0111401 congenital dyserythropoietic anemia type II oboInOwl:hasDbXref MESH:D000742 semapv:UnspecifiedMatching DOID:0111401 congenital dyserythropoietic anemia type II oboInOwl:hasDbXref NCI:C175991 semapv:UnspecifiedMatching -DOID:0111401 congenital dyserythropoietic anemia type II oboInOwl:hasDbXref OMIM:224100 semapv:UnspecifiedMatching DOID:0111401 congenital dyserythropoietic anemia type II oboInOwl:hasDbXref ORDO:98873 semapv:UnspecifiedMatching DOID:0111401 congenital dyserythropoietic anemia type II oboInOwl:hasDbXref UMLS:C1306589 semapv:UnspecifiedMatching -DOID:0111401 congenital dyserythropoietic anemia type II skos:exactMatch OMIM:224100 semapv:UnspecifiedMatching DOID:0111402 mucopolysaccharidosis type IIID oboInOwl:hasDbXref GARD:7074 semapv:UnspecifiedMatching DOID:0111402 mucopolysaccharidosis type IIID oboInOwl:hasDbXref ICD10CM:E76.22 semapv:UnspecifiedMatching DOID:0111402 mucopolysaccharidosis type IIID oboInOwl:hasDbXref MESH:D009084 semapv:UnspecifiedMatching DOID:0111402 mucopolysaccharidosis type IIID oboInOwl:hasDbXref NCI:C84900 semapv:UnspecifiedMatching -DOID:0111402 mucopolysaccharidosis type IIID oboInOwl:hasDbXref OMIM:252940 semapv:UnspecifiedMatching DOID:0111402 mucopolysaccharidosis type IIID oboInOwl:hasDbXref ORDO:79272 semapv:UnspecifiedMatching DOID:0111402 mucopolysaccharidosis type IIID oboInOwl:hasDbXref UMLS:C0086650 semapv:UnspecifiedMatching -DOID:0111402 mucopolysaccharidosis type IIID skos:exactMatch OMIM:252940 semapv:UnspecifiedMatching -DOID:0111403 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations oboInOwl:hasDbXref OMIM:618273 semapv:UnspecifiedMatching -DOID:0111403 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations skos:exactMatch OMIM:618273 semapv:UnspecifiedMatching DOID:0111404 Jalili syndrome oboInOwl:hasDbXref GARD:1463 semapv:UnspecifiedMatching DOID:0111404 Jalili syndrome oboInOwl:hasDbXref MESH:C000596385 semapv:UnspecifiedMatching -DOID:0111404 Jalili syndrome oboInOwl:hasDbXref OMIM:217080 semapv:UnspecifiedMatching DOID:0111404 Jalili syndrome oboInOwl:hasDbXref ORDO:1873 semapv:UnspecifiedMatching DOID:0111404 Jalili syndrome oboInOwl:hasDbXref UMLS:C3495589 semapv:UnspecifiedMatching -DOID:0111404 Jalili syndrome skos:exactMatch OMIM:217080 semapv:UnspecifiedMatching -DOID:0111405 Fraser syndrome 1 oboInOwl:hasDbXref OMIM:219000 semapv:UnspecifiedMatching -DOID:0111405 Fraser syndrome 1 skos:exactMatch OMIM:219000 semapv:UnspecifiedMatching -DOID:0111406 Fraser syndrome 3 oboInOwl:hasDbXref OMIM:617667 semapv:UnspecifiedMatching -DOID:0111406 Fraser syndrome 3 skos:exactMatch OMIM:617667 semapv:UnspecifiedMatching -DOID:0111407 Fraser syndrome 2 oboInOwl:hasDbXref OMIM:617666 semapv:UnspecifiedMatching -DOID:0111407 Fraser syndrome 2 skos:exactMatch OMIM:617666 semapv:UnspecifiedMatching DOID:0111408 exudative vitreoretinopathy 5 oboInOwl:hasDbXref MESH:C567648 semapv:UnspecifiedMatching -DOID:0111408 exudative vitreoretinopathy 5 oboInOwl:hasDbXref OMIM:613310 semapv:UnspecifiedMatching -DOID:0111408 exudative vitreoretinopathy 5 skos:exactMatch OMIM:613310 semapv:UnspecifiedMatching DOID:0111409 exudative vitreoretinopathy 3 oboInOwl:hasDbXref MESH:C565297 semapv:UnspecifiedMatching -DOID:0111409 exudative vitreoretinopathy 3 oboInOwl:hasDbXref OMIM:605750 semapv:UnspecifiedMatching -DOID:0111409 exudative vitreoretinopathy 3 skos:exactMatch OMIM:605750 semapv:UnspecifiedMatching -DOID:0111410 exudative vitreoretinopathy 6 oboInOwl:hasDbXref OMIM:616468 semapv:UnspecifiedMatching -DOID:0111410 exudative vitreoretinopathy 6 skos:exactMatch OMIM:616468 semapv:UnspecifiedMatching DOID:0111411 exudative vitreoretinopathy 4 oboInOwl:hasDbXref MESH:C566619 semapv:UnspecifiedMatching -DOID:0111411 exudative vitreoretinopathy 4 oboInOwl:hasDbXref OMIM:601813 semapv:UnspecifiedMatching -DOID:0111411 exudative vitreoretinopathy 4 skos:exactMatch OMIM:601813 semapv:UnspecifiedMatching DOID:0111412 exudative vitreoretinopathy 1 oboInOwl:hasDbXref MESH:C536382 semapv:UnspecifiedMatching -DOID:0111412 exudative vitreoretinopathy 1 oboInOwl:hasDbXref OMIM:133780 semapv:UnspecifiedMatching -DOID:0111412 exudative vitreoretinopathy 1 skos:exactMatch OMIM:133780 semapv:UnspecifiedMatching -DOID:0111413 X-linked exudative vitreoretinopathy 2 oboInOwl:hasDbXref OMIM:305390 semapv:UnspecifiedMatching -DOID:0111413 X-linked exudative vitreoretinopathy 2 skos:exactMatch OMIM:305390 semapv:UnspecifiedMatching DOID:0111414 trichohepatoenteric syndrome oboInOwl:hasDbXref GARD:5258 semapv:UnspecifiedMatching DOID:0111414 trichohepatoenteric syndrome oboInOwl:hasDbXref MESH:C565627 semapv:UnspecifiedMatching -DOID:0111414 trichohepatoenteric syndrome oboInOwl:hasDbXref OMIMPS:222470 semapv:UnspecifiedMatching DOID:0111414 trichohepatoenteric syndrome oboInOwl:hasDbXref ORDO:84064 semapv:UnspecifiedMatching DOID:0111414 trichohepatoenteric syndrome oboInOwl:hasDbXref UMLS:C1857276 semapv:UnspecifiedMatching -DOID:0111414 trichohepatoenteric syndrome skos:exactMatch OMIMPS:222470 semapv:UnspecifiedMatching -DOID:0111415 trichohepatoenteric syndrome 1 oboInOwl:hasDbXref OMIM:222470 semapv:UnspecifiedMatching -DOID:0111415 trichohepatoenteric syndrome 1 skos:exactMatch OMIM:222470 semapv:UnspecifiedMatching -DOID:0111416 trichohepatoenteric syndrome 2 oboInOwl:hasDbXref OMIM:614602 semapv:UnspecifiedMatching -DOID:0111416 trichohepatoenteric syndrome 2 skos:exactMatch OMIM:614602 semapv:UnspecifiedMatching DOID:0111417 familial chylomicronemia syndrome oboInOwl:hasDbXref ORDO:444490 semapv:UnspecifiedMatching DOID:0111418 familial apolipoprotein C-II deficiency oboInOwl:hasDbXref MESH:D008072 semapv:UnspecifiedMatching -DOID:0111418 familial apolipoprotein C-II deficiency oboInOwl:hasDbXref OMIM:207750 semapv:UnspecifiedMatching DOID:0111418 familial apolipoprotein C-II deficiency oboInOwl:hasDbXref ORDO:309020 semapv:UnspecifiedMatching DOID:0111418 familial apolipoprotein C-II deficiency oboInOwl:hasDbXref UMLS:C0268199 semapv:UnspecifiedMatching DOID:0111418 familial apolipoprotein C-II deficiency oboInOwl:hasDbXref UMLS:C1720779 semapv:UnspecifiedMatching -DOID:0111418 familial apolipoprotein C-II deficiency skos:exactMatch OMIM:207750 semapv:UnspecifiedMatching -DOID:0111419 familial chylomicronemia due to inhibition of lipoprotein lipase activity oboInOwl:hasDbXref OMIM:118830 semapv:UnspecifiedMatching -DOID:0111419 familial chylomicronemia due to inhibition of lipoprotein lipase activity skos:exactMatch OMIM:118830 semapv:UnspecifiedMatching -DOID:0111420 familial GPIHBP1 deficiency oboInOwl:hasDbXref OMIM:615947 semapv:UnspecifiedMatching DOID:0111420 familial GPIHBP1 deficiency oboInOwl:hasDbXref ORDO:535458 semapv:UnspecifiedMatching -DOID:0111420 familial GPIHBP1 deficiency skos:exactMatch OMIM:615947 semapv:UnspecifiedMatching -DOID:0111421 familial apolipoprotein A5 deficiency oboInOwl:hasDbXref OMIM:144650 semapv:UnspecifiedMatching DOID:0111421 familial apolipoprotein A5 deficiency oboInOwl:hasDbXref ORDO:530849 semapv:UnspecifiedMatching -DOID:0111421 familial apolipoprotein A5 deficiency skos:exactMatch OMIM:144650 semapv:UnspecifiedMatching -DOID:0111422 familial lipase maturation factor 1 deficiency oboInOwl:hasDbXref OMIM:246650 semapv:UnspecifiedMatching DOID:0111422 familial lipase maturation factor 1 deficiency oboInOwl:hasDbXref ORDO:535453 semapv:UnspecifiedMatching -DOID:0111422 familial lipase maturation factor 1 deficiency skos:exactMatch OMIM:246650 semapv:UnspecifiedMatching -DOID:0111423 branchiootorenal syndrome 1 oboInOwl:hasDbXref OMIM:113650 semapv:UnspecifiedMatching -DOID:0111423 branchiootorenal syndrome 1 skos:exactMatch OMIM:113650 semapv:UnspecifiedMatching -DOID:0111424 branchiootorenal syndrome 2 oboInOwl:hasDbXref OMIM:610896 semapv:UnspecifiedMatching -DOID:0111424 branchiootorenal syndrome 2 skos:exactMatch OMIM:610896 semapv:UnspecifiedMatching -DOID:0111425 restrictive cardiomyopathy 1 oboInOwl:hasDbXref OMIM:115210 semapv:UnspecifiedMatching -DOID:0111425 restrictive cardiomyopathy 1 skos:exactMatch OMIM:115210 semapv:UnspecifiedMatching -DOID:0111426 restrictive cardiomyopathy 2 oboInOwl:hasDbXref OMIM:609578 semapv:UnspecifiedMatching -DOID:0111426 restrictive cardiomyopathy 2 skos:exactMatch OMIM:609578 semapv:UnspecifiedMatching -DOID:0111427 restrictive cardiomyopathy 3 oboInOwl:hasDbXref OMIM:612422 semapv:UnspecifiedMatching -DOID:0111427 restrictive cardiomyopathy 3 skos:exactMatch OMIM:612422 semapv:UnspecifiedMatching -DOID:0111428 essential tremor 1 oboInOwl:hasDbXref OMIM:190300 semapv:UnspecifiedMatching -DOID:0111428 essential tremor 1 skos:exactMatch OMIM:190300 semapv:UnspecifiedMatching -DOID:0111429 essential tremor 2 oboInOwl:hasDbXref OMIM:602134 semapv:UnspecifiedMatching -DOID:0111429 essential tremor 2 skos:exactMatch OMIM:602134 semapv:UnspecifiedMatching -DOID:0111430 essential tremor 3 oboInOwl:hasDbXref OMIM:611456 semapv:UnspecifiedMatching -DOID:0111430 essential tremor 3 skos:exactMatch OMIM:611456 semapv:UnspecifiedMatching -DOID:0111431 essential tremor 4 oboInOwl:hasDbXref OMIM:614782 semapv:UnspecifiedMatching -DOID:0111431 essential tremor 4 skos:exactMatch OMIM:614782 semapv:UnspecifiedMatching -DOID:0111432 essential tremor 5 oboInOwl:hasDbXref OMIM:616736 semapv:UnspecifiedMatching -DOID:0111432 essential tremor 5 skos:exactMatch OMIM:616736 semapv:UnspecifiedMatching DOID:0111433 optic atrophy 3 oboInOwl:hasDbXref GARD:10203 semapv:UnspecifiedMatching DOID:0111433 optic atrophy 3 oboInOwl:hasDbXref MESH:C537128 semapv:UnspecifiedMatching -DOID:0111433 optic atrophy 3 oboInOwl:hasDbXref OMIM:165300 semapv:UnspecifiedMatching DOID:0111433 optic atrophy 3 oboInOwl:hasDbXref ORDO:67036 semapv:UnspecifiedMatching DOID:0111433 optic atrophy 3 oboInOwl:hasDbXref UMLS:C1833809 semapv:UnspecifiedMatching -DOID:0111433 optic atrophy 3 skos:exactMatch OMIM:165300 semapv:UnspecifiedMatching -DOID:0111434 optic atrophy 10 oboInOwl:hasDbXref OMIM:616732 semapv:UnspecifiedMatching -DOID:0111434 optic atrophy 10 skos:exactMatch OMIM:616732 semapv:UnspecifiedMatching DOID:0111435 optic atrophy 6 oboInOwl:hasDbXref MESH:C537127 semapv:UnspecifiedMatching -DOID:0111435 optic atrophy 6 oboInOwl:hasDbXref OMIM:258500 semapv:UnspecifiedMatching -DOID:0111435 optic atrophy 6 skos:exactMatch OMIM:258500 semapv:UnspecifiedMatching -DOID:0111436 optic atrophy 11 oboInOwl:hasDbXref OMIM:617302 semapv:UnspecifiedMatching -DOID:0111436 optic atrophy 11 skos:exactMatch OMIM:617302 semapv:UnspecifiedMatching DOID:0111437 optic atrophy 7 oboInOwl:hasDbXref MESH:C567833 semapv:UnspecifiedMatching -DOID:0111437 optic atrophy 7 oboInOwl:hasDbXref OMIM:612989 semapv:UnspecifiedMatching -DOID:0111437 optic atrophy 7 skos:exactMatch OMIM:612989 semapv:UnspecifiedMatching DOID:0111438 optic atrophy 5 oboInOwl:hasDbXref MESH:C537126 semapv:UnspecifiedMatching -DOID:0111438 optic atrophy 5 oboInOwl:hasDbXref OMIM:610708 semapv:UnspecifiedMatching -DOID:0111438 optic atrophy 5 skos:exactMatch OMIM:610708 semapv:UnspecifiedMatching -DOID:0111439 optic atrophy 8 oboInOwl:hasDbXref OMIM:616648 semapv:UnspecifiedMatching -DOID:0111439 optic atrophy 8 skos:exactMatch OMIM:616648 semapv:UnspecifiedMatching DOID:0111440 optic atrophy 4 oboInOwl:hasDbXref MESH:C565343 semapv:UnspecifiedMatching -DOID:0111440 optic atrophy 4 oboInOwl:hasDbXref OMIM:605293 semapv:UnspecifiedMatching -DOID:0111440 optic atrophy 4 skos:exactMatch OMIM:605293 semapv:UnspecifiedMatching -DOID:0111441 optic atrophy 1 oboInOwl:hasDbXref OMIM:165500 semapv:UnspecifiedMatching -DOID:0111441 optic atrophy 1 skos:exactMatch OMIM:165500 semapv:UnspecifiedMatching -DOID:0111442 optic atrophy 9 oboInOwl:hasDbXref OMIM:616289 semapv:UnspecifiedMatching -DOID:0111442 optic atrophy 9 skos:exactMatch OMIM:616289 semapv:UnspecifiedMatching -DOID:0111443 optic atrophy 2 oboInOwl:hasDbXref OMIM:311050 semapv:UnspecifiedMatching -DOID:0111443 optic atrophy 2 skos:exactMatch OMIM:311050 semapv:UnspecifiedMatching DOID:0111444 progressive myoclonus epilepsy 4 oboInOwl:hasDbXref MESH:D020191 semapv:UnspecifiedMatching -DOID:0111444 progressive myoclonus epilepsy 4 oboInOwl:hasDbXref OMIM:254900 semapv:UnspecifiedMatching DOID:0111444 progressive myoclonus epilepsy 4 oboInOwl:hasDbXref ORDO:163696 semapv:UnspecifiedMatching DOID:0111444 progressive myoclonus epilepsy 4 oboInOwl:hasDbXref UMLS:C0751779 semapv:UnspecifiedMatching -DOID:0111444 progressive myoclonus epilepsy 4 skos:exactMatch OMIM:254900 semapv:UnspecifiedMatching -DOID:0111445 progressive myoclonus epilepsy 10 oboInOwl:hasDbXref OMIM:616640 semapv:UnspecifiedMatching DOID:0111445 progressive myoclonus epilepsy 10 oboInOwl:hasDbXref ORDO:324290 semapv:UnspecifiedMatching -DOID:0111445 progressive myoclonus epilepsy 10 skos:exactMatch OMIM:616640 semapv:UnspecifiedMatching DOID:0111446 progressive myoclonus epilepsy 3 oboInOwl:hasDbXref GARD:2167 semapv:UnspecifiedMatching DOID:0111446 progressive myoclonus epilepsy 3 oboInOwl:hasDbXref MESH:C567095 semapv:UnspecifiedMatching -DOID:0111446 progressive myoclonus epilepsy 3 oboInOwl:hasDbXref OMIM:611726 semapv:UnspecifiedMatching DOID:0111446 progressive myoclonus epilepsy 3 oboInOwl:hasDbXref ORDO:263516 semapv:UnspecifiedMatching DOID:0111446 progressive myoclonus epilepsy 3 oboInOwl:hasDbXref UMLS:C2673257 semapv:UnspecifiedMatching -DOID:0111446 progressive myoclonus epilepsy 3 skos:exactMatch OMIM:611726 semapv:UnspecifiedMatching DOID:0111447 progressive myoclonus epilepsy 7 oboInOwl:hasDbXref NCI:C142804 semapv:UnspecifiedMatching -DOID:0111447 progressive myoclonus epilepsy 7 oboInOwl:hasDbXref OMIM:616187 semapv:UnspecifiedMatching DOID:0111447 progressive myoclonus epilepsy 7 oboInOwl:hasDbXref ORDO:435438 semapv:UnspecifiedMatching DOID:0111447 progressive myoclonus epilepsy 7 oboInOwl:hasDbXref UMLS:C4015420 semapv:UnspecifiedMatching -DOID:0111447 progressive myoclonus epilepsy 7 skos:exactMatch OMIM:616187 semapv:UnspecifiedMatching -DOID:0111448 progressive myoclonus epilepsy 1B oboInOwl:hasDbXref OMIM:612437 semapv:UnspecifiedMatching -DOID:0111448 progressive myoclonus epilepsy 1B skos:exactMatch OMIM:612437 semapv:UnspecifiedMatching DOID:0111449 progressive myoclonus epilepsy 6 oboInOwl:hasDbXref GARD:3872 semapv:UnspecifiedMatching -DOID:0111449 progressive myoclonus epilepsy 6 oboInOwl:hasDbXref OMIM:614018 semapv:UnspecifiedMatching DOID:0111449 progressive myoclonus epilepsy 6 oboInOwl:hasDbXref ORDO:280620 semapv:UnspecifiedMatching -DOID:0111449 progressive myoclonus epilepsy 6 skos:exactMatch OMIM:614018 semapv:UnspecifiedMatching -DOID:0111450 progressive myoclonus epilepsy 9 oboInOwl:hasDbXref OMIM:616540 semapv:UnspecifiedMatching DOID:0111450 progressive myoclonus epilepsy 9 oboInOwl:hasDbXref ORDO:457265 semapv:UnspecifiedMatching -DOID:0111450 progressive myoclonus epilepsy 9 skos:exactMatch OMIM:616540 semapv:UnspecifiedMatching -DOID:0111451 progressive myoclonus epilepsy 8 oboInOwl:hasDbXref OMIM:616230 semapv:UnspecifiedMatching DOID:0111451 progressive myoclonus epilepsy 8 oboInOwl:hasDbXref ORDO:424027 semapv:UnspecifiedMatching -DOID:0111451 progressive myoclonus epilepsy 8 skos:exactMatch OMIM:616230 semapv:UnspecifiedMatching -DOID:0111452 progressive myoclonus epilepsy 1A oboInOwl:hasDbXref OMIM:254800 semapv:UnspecifiedMatching -DOID:0111452 progressive myoclonus epilepsy 1A skos:exactMatch OMIM:254800 semapv:UnspecifiedMatching -DOID:0111453 2-aminoadipic 2-oxoadipic aciduria oboInOwl:hasDbXref OMIM:204750 semapv:UnspecifiedMatching DOID:0111453 2-aminoadipic 2-oxoadipic aciduria oboInOwl:hasDbXref ORDO:79154 semapv:UnspecifiedMatching -DOID:0111453 2-aminoadipic 2-oxoadipic aciduria skos:exactMatch OMIM:204750 semapv:UnspecifiedMatching DOID:0111454 SHORT syndrome oboInOwl:hasDbXref GARD:7633 semapv:UnspecifiedMatching DOID:0111454 SHORT syndrome oboInOwl:hasDbXref MESH:C537327 semapv:UnspecifiedMatching -DOID:0111454 SHORT syndrome oboInOwl:hasDbXref OMIM:269880 semapv:UnspecifiedMatching DOID:0111454 SHORT syndrome oboInOwl:hasDbXref ORDO:3163 semapv:UnspecifiedMatching DOID:0111454 SHORT syndrome oboInOwl:hasDbXref UMLS:C0878684 semapv:UnspecifiedMatching -DOID:0111454 SHORT syndrome skos:exactMatch OMIM:269880 semapv:UnspecifiedMatching DOID:0111455 GRACILE syndrome oboInOwl:hasDbXref GARD:1 semapv:UnspecifiedMatching DOID:0111455 GRACILE syndrome oboInOwl:hasDbXref MESH:C537934 semapv:UnspecifiedMatching -DOID:0111455 GRACILE syndrome oboInOwl:hasDbXref OMIM:603358 semapv:UnspecifiedMatching DOID:0111455 GRACILE syndrome oboInOwl:hasDbXref ORDO:53693 semapv:UnspecifiedMatching DOID:0111455 GRACILE syndrome oboInOwl:hasDbXref UMLS:C1864002 semapv:UnspecifiedMatching -DOID:0111455 GRACILE syndrome skos:exactMatch OMIM:603358 semapv:UnspecifiedMatching DOID:0111456 Kaufman oculocerebrofacial syndrome oboInOwl:hasDbXref GARD:3084 semapv:UnspecifiedMatching DOID:0111456 Kaufman oculocerebrofacial syndrome oboInOwl:hasDbXref MESH:C537013 semapv:UnspecifiedMatching -DOID:0111456 Kaufman oculocerebrofacial syndrome oboInOwl:hasDbXref OMIM:244450 semapv:UnspecifiedMatching DOID:0111456 Kaufman oculocerebrofacial syndrome oboInOwl:hasDbXref ORDO:2707 semapv:UnspecifiedMatching DOID:0111456 Kaufman oculocerebrofacial syndrome oboInOwl:hasDbXref UMLS:C1855663 semapv:UnspecifiedMatching -DOID:0111456 Kaufman oculocerebrofacial syndrome skos:exactMatch OMIM:244450 semapv:UnspecifiedMatching DOID:0111457 STING-associated vasculopathy with onset in infancy oboInOwl:hasDbXref GARD:12357 semapv:UnspecifiedMatching -DOID:0111457 STING-associated vasculopathy with onset in infancy oboInOwl:hasDbXref OMIM:615934 semapv:UnspecifiedMatching DOID:0111457 STING-associated vasculopathy with onset in infancy oboInOwl:hasDbXref ORDO:425120 semapv:UnspecifiedMatching -DOID:0111457 STING-associated vasculopathy with onset in infancy skos:exactMatch OMIM:615934 semapv:UnspecifiedMatching DOID:0111458 galactose epimerase deficiency oboInOwl:hasDbXref GARD:5392 semapv:UnspecifiedMatching DOID:0111458 galactose epimerase deficiency oboInOwl:hasDbXref MESH:D005693 semapv:UnspecifiedMatching -DOID:0111458 galactose epimerase deficiency oboInOwl:hasDbXref OMIM:230350 semapv:UnspecifiedMatching DOID:0111458 galactose epimerase deficiency oboInOwl:hasDbXref ORDO:79238 semapv:UnspecifiedMatching DOID:0111458 galactose epimerase deficiency oboInOwl:hasDbXref UMLS:C0751161 semapv:UnspecifiedMatching -DOID:0111458 galactose epimerase deficiency skos:exactMatch OMIM:230350 semapv:UnspecifiedMatching DOID:0111459 classic galactosemia oboInOwl:hasDbXref GARD:13639 semapv:UnspecifiedMatching DOID:0111459 classic galactosemia oboInOwl:hasDbXref MESH:D005693 semapv:UnspecifiedMatching DOID:0111459 classic galactosemia oboInOwl:hasDbXref NCI:C99104 semapv:UnspecifiedMatching -DOID:0111459 classic galactosemia oboInOwl:hasDbXref OMIM:230400 semapv:UnspecifiedMatching DOID:0111459 classic galactosemia oboInOwl:hasDbXref ORDO:79239 semapv:UnspecifiedMatching DOID:0111459 classic galactosemia oboInOwl:hasDbXref UMLS:C0268151 semapv:UnspecifiedMatching -DOID:0111459 classic galactosemia skos:exactMatch OMIM:230400 semapv:UnspecifiedMatching -DOID:0111460 cardiofaciocutaneous syndrome 1 oboInOwl:hasDbXref OMIM:115150 semapv:UnspecifiedMatching -DOID:0111460 cardiofaciocutaneous syndrome 1 skos:exactMatch OMIM:115150 semapv:UnspecifiedMatching -DOID:0111461 cardiofaciocutaneous syndrome 2 oboInOwl:hasDbXref OMIM:615278 semapv:UnspecifiedMatching -DOID:0111461 cardiofaciocutaneous syndrome 2 skos:exactMatch OMIM:615278 semapv:UnspecifiedMatching -DOID:0111462 cardiofaciocutaneous syndrome 3 oboInOwl:hasDbXref OMIM:615279 semapv:UnspecifiedMatching -DOID:0111462 cardiofaciocutaneous syndrome 3 skos:exactMatch OMIM:615279 semapv:UnspecifiedMatching -DOID:0111463 cardiofaciocutaneous syndrome 4 oboInOwl:hasDbXref OMIM:615280 semapv:UnspecifiedMatching -DOID:0111463 cardiofaciocutaneous syndrome 4 skos:exactMatch OMIM:615280 semapv:UnspecifiedMatching -DOID:0111464 combined oxidative phosphorylation deficiency 35 oboInOwl:hasDbXref OMIM:617873 semapv:UnspecifiedMatching -DOID:0111464 combined oxidative phosphorylation deficiency 35 skos:exactMatch OMIM:617873 semapv:UnspecifiedMatching -DOID:0111465 combined oxidative phosphorylation deficiency 21 oboInOwl:hasDbXref OMIM:615918 semapv:UnspecifiedMatching DOID:0111465 combined oxidative phosphorylation deficiency 21 oboInOwl:hasDbXref ORDO:420733 semapv:UnspecifiedMatching -DOID:0111465 combined oxidative phosphorylation deficiency 21 skos:exactMatch OMIM:615918 semapv:UnspecifiedMatching -DOID:0111466 combined oxidative phosphorylation deficiency 38 oboInOwl:hasDbXref OMIM:618378 semapv:UnspecifiedMatching -DOID:0111466 combined oxidative phosphorylation deficiency 38 skos:exactMatch OMIM:618378 semapv:UnspecifiedMatching -DOID:0111467 combined oxidative phosphorylation deficiency 13 oboInOwl:hasDbXref OMIM:614932 semapv:UnspecifiedMatching -DOID:0111467 combined oxidative phosphorylation deficiency 13 skos:exactMatch OMIM:614932 semapv:UnspecifiedMatching -DOID:0111468 combined oxidative phosphorylation deficiency 25 oboInOwl:hasDbXref OMIM:616430 semapv:UnspecifiedMatching DOID:0111468 combined oxidative phosphorylation deficiency 25 oboInOwl:hasDbXref ORDO:447954 semapv:UnspecifiedMatching -DOID:0111468 combined oxidative phosphorylation deficiency 25 skos:exactMatch OMIM:616430 semapv:UnspecifiedMatching DOID:0111469 combined oxidative phosphorylation deficiency 16 oboInOwl:hasDbXref GARD:12892 semapv:UnspecifiedMatching -DOID:0111469 combined oxidative phosphorylation deficiency 16 oboInOwl:hasDbXref OMIM:615395 semapv:UnspecifiedMatching DOID:0111469 combined oxidative phosphorylation deficiency 16 oboInOwl:hasDbXref ORDO:352563 semapv:UnspecifiedMatching -DOID:0111469 combined oxidative phosphorylation deficiency 16 skos:exactMatch OMIM:615395 semapv:UnspecifiedMatching -DOID:0111470 combined oxidative phosphorylation deficiency 28 oboInOwl:hasDbXref OMIM:616794 semapv:UnspecifiedMatching DOID:0111470 combined oxidative phosphorylation deficiency 28 oboInOwl:hasDbXref ORDO:466784 semapv:UnspecifiedMatching -DOID:0111470 combined oxidative phosphorylation deficiency 28 skos:exactMatch OMIM:616794 semapv:UnspecifiedMatching -DOID:0111471 combined oxidative phosphorylation deficiency 30 oboInOwl:hasDbXref OMIM:616974 semapv:UnspecifiedMatching DOID:0111471 combined oxidative phosphorylation deficiency 30 oboInOwl:hasDbXref ORDO:478042 semapv:UnspecifiedMatching -DOID:0111471 combined oxidative phosphorylation deficiency 30 skos:exactMatch OMIM:616974 semapv:UnspecifiedMatching -DOID:0111472 combined oxidative phosphorylation deficiency 9 oboInOwl:hasDbXref OMIM:614582 semapv:UnspecifiedMatching DOID:0111472 combined oxidative phosphorylation deficiency 9 oboInOwl:hasDbXref ORDO:319509 semapv:UnspecifiedMatching -DOID:0111472 combined oxidative phosphorylation deficiency 9 skos:exactMatch OMIM:614582 semapv:UnspecifiedMatching DOID:0111473 combined oxidative phosphorylation deficiency 5 oboInOwl:hasDbXref MESH:C567126 semapv:UnspecifiedMatching -DOID:0111473 combined oxidative phosphorylation deficiency 5 oboInOwl:hasDbXref OMIM:611719 semapv:UnspecifiedMatching DOID:0111473 combined oxidative phosphorylation deficiency 5 oboInOwl:hasDbXref ORDO:137908 semapv:UnspecifiedMatching -DOID:0111473 combined oxidative phosphorylation deficiency 5 skos:exactMatch OMIM:611719 semapv:UnspecifiedMatching DOID:0111474 combined oxidative phosphorylation deficiency 1 oboInOwl:hasDbXref MESH:C563797 semapv:UnspecifiedMatching DOID:0111474 combined oxidative phosphorylation deficiency 1 oboInOwl:hasDbXref NCI:C125663 semapv:UnspecifiedMatching -DOID:0111474 combined oxidative phosphorylation deficiency 1 oboInOwl:hasDbXref OMIM:609060 semapv:UnspecifiedMatching DOID:0111474 combined oxidative phosphorylation deficiency 1 oboInOwl:hasDbXref ORDO:137681 semapv:UnspecifiedMatching DOID:0111474 combined oxidative phosphorylation deficiency 1 oboInOwl:hasDbXref UMLS:C1836797 semapv:UnspecifiedMatching -DOID:0111474 combined oxidative phosphorylation deficiency 1 skos:exactMatch OMIM:609060 semapv:UnspecifiedMatching -DOID:0111475 combined oxidative phosphorylation deficiency 39 oboInOwl:hasDbXref OMIM:618397 semapv:UnspecifiedMatching -DOID:0111475 combined oxidative phosphorylation deficiency 39 skos:exactMatch OMIM:618397 semapv:UnspecifiedMatching -DOID:0111476 combined oxidative phosphorylation deficiency 19 oboInOwl:hasDbXref OMIM:615595 semapv:UnspecifiedMatching DOID:0111476 combined oxidative phosphorylation deficiency 19 oboInOwl:hasDbXref ORDO:397593 semapv:UnspecifiedMatching -DOID:0111476 combined oxidative phosphorylation deficiency 19 skos:exactMatch OMIM:615595 semapv:UnspecifiedMatching -DOID:0111477 combined oxidative phosphorylation deficiency 14 oboInOwl:hasDbXref OMIM:614946 semapv:UnspecifiedMatching DOID:0111477 combined oxidative phosphorylation deficiency 14 oboInOwl:hasDbXref ORDO:319519 semapv:UnspecifiedMatching -DOID:0111477 combined oxidative phosphorylation deficiency 14 skos:exactMatch OMIM:614946 semapv:UnspecifiedMatching -DOID:0111478 combined oxidative phosphorylation deficiency 20 oboInOwl:hasDbXref OMIM:615917 semapv:UnspecifiedMatching DOID:0111478 combined oxidative phosphorylation deficiency 20 oboInOwl:hasDbXref ORDO:420728 semapv:UnspecifiedMatching -DOID:0111478 combined oxidative phosphorylation deficiency 20 skos:exactMatch OMIM:615917 semapv:UnspecifiedMatching -DOID:0111479 combined oxidative phosphorylation deficiency 8 oboInOwl:hasDbXref OMIM:614096 semapv:UnspecifiedMatching DOID:0111479 combined oxidative phosphorylation deficiency 8 oboInOwl:hasDbXref ORDO:319504 semapv:UnspecifiedMatching -DOID:0111479 combined oxidative phosphorylation deficiency 8 skos:exactMatch OMIM:614096 semapv:UnspecifiedMatching -DOID:0111480 combined oxidative phosphorylation deficiency 10 oboInOwl:hasDbXref OMIM:614702 semapv:UnspecifiedMatching DOID:0111480 combined oxidative phosphorylation deficiency 10 oboInOwl:hasDbXref ORDO:314637 semapv:UnspecifiedMatching -DOID:0111480 combined oxidative phosphorylation deficiency 10 skos:exactMatch OMIM:614702 semapv:UnspecifiedMatching -DOID:0111481 combined oxidative phosphorylation deficiency 11 oboInOwl:hasDbXref OMIM:614922 semapv:UnspecifiedMatching DOID:0111481 combined oxidative phosphorylation deficiency 11 oboInOwl:hasDbXref ORDO:324535 semapv:UnspecifiedMatching -DOID:0111481 combined oxidative phosphorylation deficiency 11 skos:exactMatch OMIM:614922 semapv:UnspecifiedMatching -DOID:0111482 combined oxidative phosphorylation deficiency 36 oboInOwl:hasDbXref OMIM:617950 semapv:UnspecifiedMatching -DOID:0111482 combined oxidative phosphorylation deficiency 36 skos:exactMatch OMIM:617950 semapv:UnspecifiedMatching DOID:0111483 combined oxidative phosphorylation deficiency 2 oboInOwl:hasDbXref MESH:C566468 semapv:UnspecifiedMatching -DOID:0111483 combined oxidative phosphorylation deficiency 2 oboInOwl:hasDbXref OMIM:610498 semapv:UnspecifiedMatching DOID:0111483 combined oxidative phosphorylation deficiency 2 oboInOwl:hasDbXref ORDO:254920 semapv:UnspecifiedMatching -DOID:0111483 combined oxidative phosphorylation deficiency 2 skos:exactMatch OMIM:610498 semapv:UnspecifiedMatching -DOID:0111484 combined oxidative phosphorylation deficiency 18 oboInOwl:hasDbXref OMIM:615578 semapv:UnspecifiedMatching DOID:0111484 combined oxidative phosphorylation deficiency 18 oboInOwl:hasDbXref ORDO:391348 semapv:UnspecifiedMatching -DOID:0111484 combined oxidative phosphorylation deficiency 18 skos:exactMatch OMIM:615578 semapv:UnspecifiedMatching -DOID:0111485 combined oxidative phosphorylation deficiency 24 oboInOwl:hasDbXref OMIM:616239 semapv:UnspecifiedMatching DOID:0111485 combined oxidative phosphorylation deficiency 24 oboInOwl:hasDbXref ORDO:444458 semapv:UnspecifiedMatching -DOID:0111485 combined oxidative phosphorylation deficiency 24 skos:exactMatch OMIM:616239 semapv:UnspecifiedMatching DOID:0111486 combined oxidative phosphorylation deficiency 3 oboInOwl:hasDbXref MESH:C566467 semapv:UnspecifiedMatching -DOID:0111486 combined oxidative phosphorylation deficiency 3 oboInOwl:hasDbXref OMIM:610505 semapv:UnspecifiedMatching DOID:0111486 combined oxidative phosphorylation deficiency 3 oboInOwl:hasDbXref ORDO:168566 semapv:UnspecifiedMatching DOID:0111486 combined oxidative phosphorylation deficiency 3 oboInOwl:hasDbXref UMLS:C1864840 semapv:UnspecifiedMatching -DOID:0111486 combined oxidative phosphorylation deficiency 3 skos:exactMatch OMIM:610505 semapv:UnspecifiedMatching -DOID:0111487 combined oxidative phosphorylation deficiency 7 oboInOwl:hasDbXref OMIM:613559 semapv:UnspecifiedMatching DOID:0111487 combined oxidative phosphorylation deficiency 7 oboInOwl:hasDbXref ORDO:254930 semapv:UnspecifiedMatching -DOID:0111487 combined oxidative phosphorylation deficiency 7 skos:exactMatch OMIM:613559 semapv:UnspecifiedMatching -DOID:0111488 combined oxidative phosphorylation deficiency 31 oboInOwl:hasDbXref OMIM:617228 semapv:UnspecifiedMatching DOID:0111488 combined oxidative phosphorylation deficiency 31 oboInOwl:hasDbXref ORDO:478049 semapv:UnspecifiedMatching -DOID:0111488 combined oxidative phosphorylation deficiency 31 skos:exactMatch OMIM:617228 semapv:UnspecifiedMatching -DOID:0111489 combined oxidative phosphorylation deficiency 27 oboInOwl:hasDbXref OMIM:616672 semapv:UnspecifiedMatching DOID:0111489 combined oxidative phosphorylation deficiency 27 oboInOwl:hasDbXref ORDO:477774 semapv:UnspecifiedMatching -DOID:0111489 combined oxidative phosphorylation deficiency 27 skos:exactMatch OMIM:616672 semapv:UnspecifiedMatching -DOID:0111490 combined oxidative phosphorylation deficiency 26 oboInOwl:hasDbXref OMIM:616539 semapv:UnspecifiedMatching DOID:0111490 combined oxidative phosphorylation deficiency 26 oboInOwl:hasDbXref ORDO:477684 semapv:UnspecifiedMatching -DOID:0111490 combined oxidative phosphorylation deficiency 26 skos:exactMatch OMIM:616539 semapv:UnspecifiedMatching -DOID:0111491 combined oxidative phosphorylation deficiency 15 oboInOwl:hasDbXref OMIM:614947 semapv:UnspecifiedMatching DOID:0111491 combined oxidative phosphorylation deficiency 15 oboInOwl:hasDbXref ORDO:319524 semapv:UnspecifiedMatching -DOID:0111491 combined oxidative phosphorylation deficiency 15 skos:exactMatch OMIM:614947 semapv:UnspecifiedMatching -DOID:0111492 combined oxidative phosphorylation deficiency 32 oboInOwl:hasDbXref OMIM:617664 semapv:UnspecifiedMatching -DOID:0111492 combined oxidative phosphorylation deficiency 32 skos:exactMatch OMIM:617664 semapv:UnspecifiedMatching DOID:0111493 combined oxidative phosphorylation deficiency 12 oboInOwl:hasDbXref GARD:13381 semapv:UnspecifiedMatching -DOID:0111493 combined oxidative phosphorylation deficiency 12 oboInOwl:hasDbXref OMIM:614924 semapv:UnspecifiedMatching DOID:0111493 combined oxidative phosphorylation deficiency 12 oboInOwl:hasDbXref ORDO:314051 semapv:UnspecifiedMatching -DOID:0111493 combined oxidative phosphorylation deficiency 12 skos:exactMatch OMIM:614924 semapv:UnspecifiedMatching DOID:0111494 combined oxidative phosphorylation deficiency 4 oboInOwl:hasDbXref MESH:C565690 semapv:UnspecifiedMatching -DOID:0111494 combined oxidative phosphorylation deficiency 4 oboInOwl:hasDbXref OMIM:610678 semapv:UnspecifiedMatching DOID:0111494 combined oxidative phosphorylation deficiency 4 oboInOwl:hasDbXref ORDO:254925 semapv:UnspecifiedMatching DOID:0111494 combined oxidative phosphorylation deficiency 4 oboInOwl:hasDbXref UMLS:C1857682 semapv:UnspecifiedMatching -DOID:0111494 combined oxidative phosphorylation deficiency 4 skos:exactMatch OMIM:610678 semapv:UnspecifiedMatching -DOID:0111495 combined oxidative phosphorylation deficiency 33 oboInOwl:hasDbXref OMIM:617713 semapv:UnspecifiedMatching -DOID:0111495 combined oxidative phosphorylation deficiency 33 skos:exactMatch OMIM:617713 semapv:UnspecifiedMatching -DOID:0111496 combined oxidative phosphorylation deficiency 17 oboInOwl:hasDbXref OMIM:615440 semapv:UnspecifiedMatching DOID:0111496 combined oxidative phosphorylation deficiency 17 oboInOwl:hasDbXref ORDO:369913 semapv:UnspecifiedMatching -DOID:0111496 combined oxidative phosphorylation deficiency 17 skos:exactMatch OMIM:615440 semapv:UnspecifiedMatching -DOID:0111497 combined oxidative phosphorylation deficiency 34 oboInOwl:hasDbXref OMIM:617872 semapv:UnspecifiedMatching DOID:0111497 combined oxidative phosphorylation deficiency 34 oboInOwl:hasDbXref ORDO:457223 semapv:UnspecifiedMatching -DOID:0111497 combined oxidative phosphorylation deficiency 34 skos:exactMatch OMIM:617872 semapv:UnspecifiedMatching -DOID:0111498 combined oxidative phosphorylation deficiency 22 oboInOwl:hasDbXref OMIM:616045 semapv:UnspecifiedMatching -DOID:0111498 combined oxidative phosphorylation deficiency 22 skos:exactMatch OMIM:616045 semapv:UnspecifiedMatching -DOID:0111499 combined oxidative phosphorylation deficiency 37 oboInOwl:hasDbXref OMIM:618329 semapv:UnspecifiedMatching -DOID:0111499 combined oxidative phosphorylation deficiency 37 skos:exactMatch OMIM:618329 semapv:UnspecifiedMatching -DOID:0111500 combined oxidative phosphorylation deficiency 23 oboInOwl:hasDbXref OMIM:616198 semapv:UnspecifiedMatching DOID:0111500 combined oxidative phosphorylation deficiency 23 oboInOwl:hasDbXref ORDO:444013 semapv:UnspecifiedMatching -DOID:0111500 combined oxidative phosphorylation deficiency 23 skos:exactMatch OMIM:616198 semapv:UnspecifiedMatching -DOID:0111501 combined oxidative phosphorylation deficiency 29 oboInOwl:hasDbXref OMIM:616811 semapv:UnspecifiedMatching -DOID:0111501 combined oxidative phosphorylation deficiency 29 skos:exactMatch OMIM:616811 semapv:UnspecifiedMatching -DOID:0111502 combined oxidative phosphorylation deficiency 6 oboInOwl:hasDbXref OMIM:300816 semapv:UnspecifiedMatching DOID:0111502 combined oxidative phosphorylation deficiency 6 oboInOwl:hasDbXref ORDO:238329 semapv:UnspecifiedMatching -DOID:0111502 combined oxidative phosphorylation deficiency 6 skos:exactMatch OMIM:300816 semapv:UnspecifiedMatching -DOID:0111503 Li-Fraumeni syndrome 1 oboInOwl:hasDbXref OMIM:151623 semapv:UnspecifiedMatching -DOID:0111503 Li-Fraumeni syndrome 1 skos:exactMatch OMIM:151623 semapv:UnspecifiedMatching DOID:0111504 Li-Fraumeni syndrome 2 oboInOwl:hasDbXref MESH:C563755 semapv:UnspecifiedMatching -DOID:0111504 Li-Fraumeni syndrome 2 oboInOwl:hasDbXref OMIM:609265 semapv:UnspecifiedMatching -DOID:0111504 Li-Fraumeni syndrome 2 skos:exactMatch OMIM:609265 semapv:UnspecifiedMatching DOID:0111505 palmoplantar keratoderma-deafness syndrome oboInOwl:hasDbXref GARD:3094 semapv:UnspecifiedMatching DOID:0111505 palmoplantar keratoderma-deafness syndrome oboInOwl:hasDbXref MESH:C536152 semapv:UnspecifiedMatching -DOID:0111505 palmoplantar keratoderma-deafness syndrome oboInOwl:hasDbXref OMIM:148350 semapv:UnspecifiedMatching DOID:0111505 palmoplantar keratoderma-deafness syndrome oboInOwl:hasDbXref ORDO:2202 semapv:UnspecifiedMatching DOID:0111505 palmoplantar keratoderma-deafness syndrome oboInOwl:hasDbXref UMLS:C1835672 semapv:UnspecifiedMatching -DOID:0111505 palmoplantar keratoderma-deafness syndrome skos:exactMatch OMIM:148350 semapv:UnspecifiedMatching DOID:0111506 palmoplantar keratoderma-esophageal carcinoma syndrome oboInOwl:hasDbXref GARD:3102 semapv:UnspecifiedMatching DOID:0111506 palmoplantar keratoderma-esophageal carcinoma syndrome oboInOwl:hasDbXref MESH:C536164 semapv:UnspecifiedMatching -DOID:0111506 palmoplantar keratoderma-esophageal carcinoma syndrome oboInOwl:hasDbXref OMIM:148500 semapv:UnspecifiedMatching DOID:0111506 palmoplantar keratoderma-esophageal carcinoma syndrome oboInOwl:hasDbXref ORDO:2198 semapv:UnspecifiedMatching DOID:0111506 palmoplantar keratoderma-esophageal carcinoma syndrome oboInOwl:hasDbXref UMLS:C1835664 semapv:UnspecifiedMatching -DOID:0111506 palmoplantar keratoderma-esophageal carcinoma syndrome skos:exactMatch OMIM:148500 semapv:UnspecifiedMatching DOID:0111507 Lenz-Majewski hyperostotic dwarfism oboInOwl:hasDbXref GARD:3223 semapv:UnspecifiedMatching DOID:0111507 Lenz-Majewski hyperostotic dwarfism oboInOwl:hasDbXref MESH:C537115 semapv:UnspecifiedMatching -DOID:0111507 Lenz-Majewski hyperostotic dwarfism oboInOwl:hasDbXref OMIM:151050 semapv:UnspecifiedMatching DOID:0111507 Lenz-Majewski hyperostotic dwarfism oboInOwl:hasDbXref ORDO:2658 semapv:UnspecifiedMatching DOID:0111507 Lenz-Majewski hyperostotic dwarfism oboInOwl:hasDbXref UMLS:C0432269 semapv:UnspecifiedMatching -DOID:0111507 Lenz-Majewski hyperostotic dwarfism skos:exactMatch OMIM:151050 semapv:UnspecifiedMatching DOID:0111508 Torrance type platyspondylic dysplasia oboInOwl:hasDbXref GARD:4382 semapv:UnspecifiedMatching DOID:0111508 Torrance type platyspondylic dysplasia oboInOwl:hasDbXref MESH:C563627 semapv:UnspecifiedMatching -DOID:0111508 Torrance type platyspondylic dysplasia oboInOwl:hasDbXref OMIM:151210 semapv:UnspecifiedMatching DOID:0111508 Torrance type platyspondylic dysplasia oboInOwl:hasDbXref ORDO:85166 semapv:UnspecifiedMatching DOID:0111508 Torrance type platyspondylic dysplasia oboInOwl:hasDbXref UMLS:C1835437 semapv:UnspecifiedMatching -DOID:0111508 Torrance type platyspondylic dysplasia skos:exactMatch OMIM:151210 semapv:UnspecifiedMatching DOID:0111509 lymphedema-distichiasis syndrome oboInOwl:hasDbXref GARD:333 semapv:UnspecifiedMatching DOID:0111509 lymphedema-distichiasis syndrome oboInOwl:hasDbXref MESH:C537710 semapv:UnspecifiedMatching DOID:0111509 lymphedema-distichiasis syndrome oboInOwl:hasDbXref NCI:C128191 semapv:UnspecifiedMatching -DOID:0111509 lymphedema-distichiasis syndrome oboInOwl:hasDbXref OMIM:153400 semapv:UnspecifiedMatching DOID:0111509 lymphedema-distichiasis syndrome oboInOwl:hasDbXref ORDO:33001 semapv:UnspecifiedMatching DOID:0111509 lymphedema-distichiasis syndrome oboInOwl:hasDbXref UMLS:C0265345 semapv:UnspecifiedMatching -DOID:0111509 lymphedema-distichiasis syndrome skos:exactMatch OMIM:153400 semapv:UnspecifiedMatching DOID:0111510 Marshall syndrome oboInOwl:hasDbXref GARD:6984 semapv:UnspecifiedMatching DOID:0111510 Marshall syndrome oboInOwl:hasDbXref MESH:C536025 semapv:UnspecifiedMatching DOID:0111510 Marshall syndrome oboInOwl:hasDbXref NCI:C128115 semapv:UnspecifiedMatching -DOID:0111510 Marshall syndrome oboInOwl:hasDbXref OMIM:154780 semapv:UnspecifiedMatching DOID:0111510 Marshall syndrome oboInOwl:hasDbXref ORDO:560 semapv:UnspecifiedMatching DOID:0111510 Marshall syndrome oboInOwl:hasDbXref UMLS:C0265235 semapv:UnspecifiedMatching -DOID:0111510 Marshall syndrome skos:exactMatch OMIM:154780 semapv:UnspecifiedMatching DOID:0111511 melanoma and neural system tumor syndrome oboInOwl:hasDbXref GARD:8468 semapv:UnspecifiedMatching DOID:0111511 melanoma and neural system tumor syndrome oboInOwl:hasDbXref MESH:C536149 semapv:UnspecifiedMatching DOID:0111511 melanoma and neural system tumor syndrome oboInOwl:hasDbXref NCI:C176905 semapv:UnspecifiedMatching -DOID:0111511 melanoma and neural system tumor syndrome oboInOwl:hasDbXref OMIM:155755 semapv:UnspecifiedMatching DOID:0111511 melanoma and neural system tumor syndrome oboInOwl:hasDbXref ORDO:252206 semapv:UnspecifiedMatching DOID:0111511 melanoma and neural system tumor syndrome oboInOwl:hasDbXref UMLS:C1835042 semapv:UnspecifiedMatching -DOID:0111511 melanoma and neural system tumor syndrome skos:exactMatch OMIM:155755 semapv:UnspecifiedMatching DOID:0111512 metachondromatosis oboInOwl:hasDbXref GARD:3560 semapv:UnspecifiedMatching DOID:0111512 metachondromatosis oboInOwl:hasDbXref MESH:C562938 semapv:UnspecifiedMatching -DOID:0111512 metachondromatosis oboInOwl:hasDbXref OMIM:156250 semapv:UnspecifiedMatching DOID:0111512 metachondromatosis oboInOwl:hasDbXref ORDO:2499 semapv:UnspecifiedMatching DOID:0111512 metachondromatosis oboInOwl:hasDbXref UMLS:C0410530 semapv:UnspecifiedMatching -DOID:0111512 metachondromatosis skos:exactMatch OMIM:156250 semapv:UnspecifiedMatching DOID:0111513 metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome oboInOwl:hasDbXref GARD:3568 semapv:UnspecifiedMatching -DOID:0111513 metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome oboInOwl:hasDbXref OMIM:156510 semapv:UnspecifiedMatching DOID:0111513 metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome oboInOwl:hasDbXref ORDO:2504 semapv:UnspecifiedMatching -DOID:0111513 metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome skos:exactMatch OMIM:156510 semapv:UnspecifiedMatching DOID:0111514 metatropic dysplasia oboInOwl:hasDbXref GARD:3571 semapv:UnspecifiedMatching DOID:0111514 metatropic dysplasia oboInOwl:hasDbXref MESH:C537356 semapv:UnspecifiedMatching DOID:0111514 metatropic dysplasia oboInOwl:hasDbXref NCI:C175209 semapv:UnspecifiedMatching -DOID:0111514 metatropic dysplasia oboInOwl:hasDbXref OMIM:156530 semapv:UnspecifiedMatching DOID:0111514 metatropic dysplasia oboInOwl:hasDbXref ORDO:2635 semapv:UnspecifiedMatching DOID:0111514 metatropic dysplasia oboInOwl:hasDbXref UMLS:C0265281 semapv:UnspecifiedMatching -DOID:0111514 metatropic dysplasia skos:exactMatch OMIM:156530 semapv:UnspecifiedMatching -DOID:0111515 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 oboInOwl:hasDbXref OMIM:616479 semapv:UnspecifiedMatching DOID:0111515 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 oboInOwl:hasDbXref ORDO:329336 semapv:UnspecifiedMatching -DOID:0111515 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 skos:exactMatch OMIM:616479 semapv:UnspecifiedMatching -DOID:0111516 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 oboInOwl:hasDbXref OMIM:617070 semapv:UnspecifiedMatching DOID:0111516 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 oboInOwl:hasDbXref ORDO:329314 semapv:UnspecifiedMatching -DOID:0111516 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 skos:exactMatch OMIM:617070 semapv:UnspecifiedMatching -DOID:0111517 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 oboInOwl:hasDbXref OMIM:609283 semapv:UnspecifiedMatching -DOID:0111517 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 skos:exactMatch OMIM:609283 semapv:UnspecifiedMatching -DOID:0111518 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 oboInOwl:hasDbXref OMIM:613077 semapv:UnspecifiedMatching -DOID:0111518 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 skos:exactMatch OMIM:613077 semapv:UnspecifiedMatching -DOID:0111519 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 oboInOwl:hasDbXref OMIM:615156 semapv:UnspecifiedMatching DOID:0111519 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 oboInOwl:hasDbXref ORDO:352470 semapv:UnspecifiedMatching -DOID:0111519 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 skos:exactMatch OMIM:615156 semapv:UnspecifiedMatching -DOID:0111520 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 oboInOwl:hasDbXref OMIM:609286 semapv:UnspecifiedMatching -DOID:0111520 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 skos:exactMatch OMIM:609286 semapv:UnspecifiedMatching -DOID:0111521 autosomal dominant progressive external ophthalmoplegia 1 oboInOwl:hasDbXref OMIM:157640 semapv:UnspecifiedMatching -DOID:0111521 autosomal dominant progressive external ophthalmoplegia 1 skos:exactMatch OMIM:157640 semapv:UnspecifiedMatching -DOID:0111522 autosomal recessive progressive external ophthalmoplegia 1 oboInOwl:hasDbXref OMIM:258450 semapv:UnspecifiedMatching -DOID:0111522 autosomal recessive progressive external ophthalmoplegia 1 skos:exactMatch OMIM:258450 semapv:UnspecifiedMatching -DOID:0111523 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 oboInOwl:hasDbXref OMIM:617069 semapv:UnspecifiedMatching -DOID:0111523 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 skos:exactMatch OMIM:617069 semapv:UnspecifiedMatching -DOID:0111524 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 oboInOwl:hasDbXref OMIM:618098 semapv:UnspecifiedMatching -DOID:0111524 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 skos:exactMatch OMIM:618098 semapv:UnspecifiedMatching -DOID:0111525 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 oboInOwl:hasDbXref OMIM:610131 semapv:UnspecifiedMatching -DOID:0111525 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 skos:exactMatch OMIM:610131 semapv:UnspecifiedMatching DOID:0111526 Mullerian aplasia and hyperandrogenism oboInOwl:hasDbXref MESH:C567186 semapv:UnspecifiedMatching DOID:0111526 Mullerian aplasia and hyperandrogenism oboInOwl:hasDbXref NCI:C120376 semapv:UnspecifiedMatching -DOID:0111526 Mullerian aplasia and hyperandrogenism oboInOwl:hasDbXref OMIM:158330 semapv:UnspecifiedMatching DOID:0111526 Mullerian aplasia and hyperandrogenism oboInOwl:hasDbXref ORDO:247768 semapv:UnspecifiedMatching DOID:0111526 Mullerian aplasia and hyperandrogenism oboInOwl:hasDbXref UMLS:C2675014 semapv:UnspecifiedMatching -DOID:0111526 Mullerian aplasia and hyperandrogenism skos:exactMatch OMIM:158330 semapv:UnspecifiedMatching DOID:0111527 spinal muscular atrophy with progressive myoclonic epilepsy oboInOwl:hasDbXref GARD:3044 semapv:UnspecifiedMatching DOID:0111527 spinal muscular atrophy with progressive myoclonic epilepsy oboInOwl:hasDbXref GARD:3875 semapv:UnspecifiedMatching DOID:0111527 spinal muscular atrophy with progressive myoclonic epilepsy oboInOwl:hasDbXref MESH:C537563 semapv:UnspecifiedMatching -DOID:0111527 spinal muscular atrophy with progressive myoclonic epilepsy oboInOwl:hasDbXref OMIM:159950 semapv:UnspecifiedMatching DOID:0111527 spinal muscular atrophy with progressive myoclonic epilepsy oboInOwl:hasDbXref ORDO:2590 semapv:UnspecifiedMatching DOID:0111527 spinal muscular atrophy with progressive myoclonic epilepsy oboInOwl:hasDbXref UMLS:C1834569 semapv:UnspecifiedMatching -DOID:0111527 spinal muscular atrophy with progressive myoclonic epilepsy skos:exactMatch OMIM:159950 semapv:UnspecifiedMatching DOID:0111528 Naegeli-Franceschetti-Jadassohn syndrome oboInOwl:hasDbXref GARD:3912 semapv:UnspecifiedMatching DOID:0111528 Naegeli-Franceschetti-Jadassohn syndrome oboInOwl:hasDbXref MESH:C538331 semapv:UnspecifiedMatching -DOID:0111528 Naegeli-Franceschetti-Jadassohn syndrome oboInOwl:hasDbXref OMIM:161000 semapv:UnspecifiedMatching DOID:0111528 Naegeli-Franceschetti-Jadassohn syndrome oboInOwl:hasDbXref ORDO:69087 semapv:UnspecifiedMatching DOID:0111528 Naegeli-Franceschetti-Jadassohn syndrome oboInOwl:hasDbXref UMLS:C0343111 semapv:UnspecifiedMatching -DOID:0111528 Naegeli-Franceschetti-Jadassohn syndrome skos:exactMatch OMIM:161000 semapv:UnspecifiedMatching DOID:0111529 familial multiple nevi flammei oboInOwl:hasDbXref GARD:3986 semapv:UnspecifiedMatching DOID:0111529 familial multiple nevi flammei oboInOwl:hasDbXref MESH:C535816 semapv:UnspecifiedMatching -DOID:0111529 familial multiple nevi flammei oboInOwl:hasDbXref OMIM:163000 semapv:UnspecifiedMatching DOID:0111529 familial multiple nevi flammei oboInOwl:hasDbXref ORDO:624 semapv:UnspecifiedMatching DOID:0111529 familial multiple nevi flammei oboInOwl:hasDbXref UMLS:C2931029 semapv:UnspecifiedMatching -DOID:0111529 familial multiple nevi flammei skos:exactMatch OMIM:163000 semapv:UnspecifiedMatching DOID:0111530 linear nevus sebaceous syndrome oboInOwl:hasDbXref GARD:10291 semapv:UnspecifiedMatching -DOID:0111530 linear nevus sebaceous syndrome oboInOwl:hasDbXref OMIM:163200 semapv:UnspecifiedMatching DOID:0111530 linear nevus sebaceous syndrome oboInOwl:hasDbXref ORDO:2612 semapv:UnspecifiedMatching DOID:0111530 linear nevus sebaceous syndrome oboInOwl:hasDbXref UMLS:C3854181 semapv:UnspecifiedMatching -DOID:0111530 linear nevus sebaceous syndrome skos:exactMatch OMIM:163200 semapv:UnspecifiedMatching DOID:0111531 bilateral optic nerve hypoplasia oboInOwl:hasDbXref GARD:8419 semapv:UnspecifiedMatching DOID:0111531 bilateral optic nerve hypoplasia oboInOwl:hasDbXref ICD10CM:H47.03 semapv:UnspecifiedMatching DOID:0111531 bilateral optic nerve hypoplasia oboInOwl:hasDbXref ICD9CM:377.43 semapv:UnspecifiedMatching DOID:0111531 bilateral optic nerve hypoplasia oboInOwl:hasDbXref MESH:D000080344 semapv:UnspecifiedMatching DOID:0111531 bilateral optic nerve hypoplasia oboInOwl:hasDbXref NCI:C98999 semapv:UnspecifiedMatching -DOID:0111531 bilateral optic nerve hypoplasia oboInOwl:hasDbXref OMIM:165550 semapv:UnspecifiedMatching DOID:0111531 bilateral optic nerve hypoplasia oboInOwl:hasDbXref ORDO:137902 semapv:UnspecifiedMatching DOID:0111531 bilateral optic nerve hypoplasia oboInOwl:hasDbXref UMLS:C0338502 semapv:UnspecifiedMatching -DOID:0111531 bilateral optic nerve hypoplasia skos:exactMatch OMIM:165550 semapv:UnspecifiedMatching DOID:0111532 osteoglophonic dysplasia oboInOwl:hasDbXref GARD:4142 semapv:UnspecifiedMatching DOID:0111532 osteoglophonic dysplasia oboInOwl:hasDbXref MESH:C536050 semapv:UnspecifiedMatching -DOID:0111532 osteoglophonic dysplasia oboInOwl:hasDbXref OMIM:166250 semapv:UnspecifiedMatching DOID:0111532 osteoglophonic dysplasia oboInOwl:hasDbXref ORDO:2645 semapv:UnspecifiedMatching DOID:0111532 osteoglophonic dysplasia oboInOwl:hasDbXref UMLS:C0432283 semapv:UnspecifiedMatching -DOID:0111532 osteoglophonic dysplasia skos:exactMatch OMIM:166250 semapv:UnspecifiedMatching DOID:0111533 gnathodiaphyseal dysplasia oboInOwl:hasDbXref GARD:8698 semapv:UnspecifiedMatching DOID:0111533 gnathodiaphyseal dysplasia oboInOwl:hasDbXref MESH:C536039 semapv:UnspecifiedMatching -DOID:0111533 gnathodiaphyseal dysplasia oboInOwl:hasDbXref OMIM:166260 semapv:UnspecifiedMatching DOID:0111533 gnathodiaphyseal dysplasia oboInOwl:hasDbXref ORDO:53697 semapv:UnspecifiedMatching DOID:0111533 gnathodiaphyseal dysplasia oboInOwl:hasDbXref UMLS:C1833736 semapv:UnspecifiedMatching -DOID:0111533 gnathodiaphyseal dysplasia skos:exactMatch OMIM:166260 semapv:UnspecifiedMatching DOID:0111534 multicentric carpotarsal osteolysis syndrome oboInOwl:hasDbXref GARD:3818 semapv:UnspecifiedMatching DOID:0111534 multicentric carpotarsal osteolysis syndrome oboInOwl:hasDbXref MESH:C567171 semapv:UnspecifiedMatching DOID:0111534 multicentric carpotarsal osteolysis syndrome oboInOwl:hasDbXref NCI:C178416 semapv:UnspecifiedMatching -DOID:0111534 multicentric carpotarsal osteolysis syndrome oboInOwl:hasDbXref OMIM:166300 semapv:UnspecifiedMatching DOID:0111534 multicentric carpotarsal osteolysis syndrome oboInOwl:hasDbXref ORDO:2774 semapv:UnspecifiedMatching DOID:0111534 multicentric carpotarsal osteolysis syndrome oboInOwl:hasDbXref UMLS:C2674705 semapv:UnspecifiedMatching -DOID:0111534 multicentric carpotarsal osteolysis syndrome skos:exactMatch OMIM:166300 semapv:UnspecifiedMatching DOID:0111535 progressive osseous heteroplasia oboInOwl:hasDbXref GARD:109 semapv:UnspecifiedMatching DOID:0111535 progressive osseous heteroplasia oboInOwl:hasDbXref MEDDRA:10048902 semapv:UnspecifiedMatching DOID:0111535 progressive osseous heteroplasia oboInOwl:hasDbXref MESH:C562735 semapv:UnspecifiedMatching DOID:0111535 progressive osseous heteroplasia oboInOwl:hasDbXref NCI:C132062 semapv:UnspecifiedMatching -DOID:0111535 progressive osseous heteroplasia oboInOwl:hasDbXref OMIM:166350 semapv:UnspecifiedMatching DOID:0111535 progressive osseous heteroplasia oboInOwl:hasDbXref ORDO:2762 semapv:UnspecifiedMatching DOID:0111535 progressive osseous heteroplasia oboInOwl:hasDbXref UMLS:C0334041 semapv:UnspecifiedMatching -DOID:0111535 progressive osseous heteroplasia skos:exactMatch OMIM:166350 semapv:UnspecifiedMatching DOID:0111536 Buschke-Ollendorff syndrome oboInOwl:hasDbXref GARD:1044 semapv:UnspecifiedMatching DOID:0111536 Buschke-Ollendorff syndrome oboInOwl:hasDbXref MESH:C537415 semapv:UnspecifiedMatching -DOID:0111536 Buschke-Ollendorff syndrome oboInOwl:hasDbXref OMIM:166700 semapv:UnspecifiedMatching DOID:0111536 Buschke-Ollendorff syndrome oboInOwl:hasDbXref ORDO:1306 semapv:UnspecifiedMatching DOID:0111536 Buschke-Ollendorff syndrome oboInOwl:hasDbXref UMLS:C0265514 semapv:UnspecifiedMatching -DOID:0111536 Buschke-Ollendorff syndrome skos:exactMatch OMIM:166700 semapv:UnspecifiedMatching DOID:0111537 paroxysmal extreme pain disorder oboInOwl:hasDbXref GARD:12854 semapv:UnspecifiedMatching DOID:0111537 paroxysmal extreme pain disorder oboInOwl:hasDbXref MESH:C563475 semapv:UnspecifiedMatching DOID:0111537 paroxysmal extreme pain disorder oboInOwl:hasDbXref NCI:C125385 semapv:UnspecifiedMatching -DOID:0111537 paroxysmal extreme pain disorder oboInOwl:hasDbXref OMIM:167400 semapv:UnspecifiedMatching DOID:0111537 paroxysmal extreme pain disorder oboInOwl:hasDbXref ORDO:46348 semapv:UnspecifiedMatching DOID:0111537 paroxysmal extreme pain disorder oboInOwl:hasDbXref UMLS:C1833661 semapv:UnspecifiedMatching -DOID:0111537 paroxysmal extreme pain disorder skos:exactMatch OMIM:167400 semapv:UnspecifiedMatching DOID:0111538 paramyotonia congenita of Von Eulenburg oboInOwl:hasDbXref GARD:7325 semapv:UnspecifiedMatching DOID:0111538 paramyotonia congenita of Von Eulenburg oboInOwl:hasDbXref ICD10CM:G71.19 semapv:UnspecifiedMatching DOID:0111538 paramyotonia congenita of Von Eulenburg oboInOwl:hasDbXref MESH:D020967 semapv:UnspecifiedMatching DOID:0111538 paramyotonia congenita of Von Eulenburg oboInOwl:hasDbXref NCI:C122790 semapv:UnspecifiedMatching -DOID:0111538 paramyotonia congenita of Von Eulenburg oboInOwl:hasDbXref OMIM:168300 semapv:UnspecifiedMatching DOID:0111538 paramyotonia congenita of Von Eulenburg oboInOwl:hasDbXref ORDO:684 semapv:UnspecifiedMatching DOID:0111538 paramyotonia congenita of Von Eulenburg oboInOwl:hasDbXref UMLS:C0221055 semapv:UnspecifiedMatching -DOID:0111538 paramyotonia congenita of Von Eulenburg skos:exactMatch OMIM:168300 semapv:UnspecifiedMatching DOID:0111539 parastremmatic dwarfism oboInOwl:hasDbXref GARD:4222 semapv:UnspecifiedMatching DOID:0111539 parastremmatic dwarfism oboInOwl:hasDbXref MESH:C537172 semapv:UnspecifiedMatching -DOID:0111539 parastremmatic dwarfism oboInOwl:hasDbXref OMIM:168400 semapv:UnspecifiedMatching DOID:0111539 parastremmatic dwarfism oboInOwl:hasDbXref ORDO:2646 semapv:UnspecifiedMatching DOID:0111539 parastremmatic dwarfism oboInOwl:hasDbXref UMLS:C1868616 semapv:UnspecifiedMatching -DOID:0111539 parastremmatic dwarfism skos:exactMatch OMIM:168400 semapv:UnspecifiedMatching DOID:0111540 prolidase deficiency oboInOwl:hasDbXref GARD:7473 semapv:UnspecifiedMatching DOID:0111540 prolidase deficiency oboInOwl:hasDbXref MESH:D056732 semapv:UnspecifiedMatching DOID:0111540 prolidase deficiency oboInOwl:hasDbXref NCI:C85029 semapv:UnspecifiedMatching -DOID:0111540 prolidase deficiency oboInOwl:hasDbXref OMIM:170100 semapv:UnspecifiedMatching DOID:0111540 prolidase deficiency oboInOwl:hasDbXref ORDO:742 semapv:UnspecifiedMatching DOID:0111540 prolidase deficiency oboInOwl:hasDbXref UMLS:C0268532 semapv:UnspecifiedMatching -DOID:0111540 prolidase deficiency skos:exactMatch OMIM:170100 semapv:UnspecifiedMatching DOID:0111541 pigmented paravenous chorioretinal atrophy oboInOwl:hasDbXref MESH:C566801 semapv:UnspecifiedMatching -DOID:0111541 pigmented paravenous chorioretinal atrophy oboInOwl:hasDbXref OMIM:172870 semapv:UnspecifiedMatching DOID:0111541 pigmented paravenous chorioretinal atrophy oboInOwl:hasDbXref ORDO:251295 semapv:UnspecifiedMatching DOID:0111541 pigmented paravenous chorioretinal atrophy oboInOwl:hasDbXref UMLS:C1868310 semapv:UnspecifiedMatching -DOID:0111541 pigmented paravenous chorioretinal atrophy skos:exactMatch OMIM:172870 semapv:UnspecifiedMatching DOID:0111542 familial expansile osteolysis oboInOwl:hasDbXref GARD:9168 semapv:UnspecifiedMatching DOID:0111542 familial expansile osteolysis oboInOwl:hasDbXref MESH:C536335 semapv:UnspecifiedMatching -DOID:0111542 familial expansile osteolysis oboInOwl:hasDbXref OMIM:174810 semapv:UnspecifiedMatching DOID:0111542 familial expansile osteolysis oboInOwl:hasDbXref ORDO:85195 semapv:UnspecifiedMatching DOID:0111542 familial expansile osteolysis oboInOwl:hasDbXref UMLS:C0432292 semapv:UnspecifiedMatching -DOID:0111542 familial expansile osteolysis skos:exactMatch OMIM:174810 semapv:UnspecifiedMatching -DOID:0111543 juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome oboInOwl:hasDbXref OMIM:175050 semapv:UnspecifiedMatching -DOID:0111543 juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome skos:exactMatch OMIM:175050 semapv:UnspecifiedMatching DOID:0111544 Guttmacher syndrome oboInOwl:hasDbXref GARD:4470 semapv:UnspecifiedMatching DOID:0111544 Guttmacher syndrome oboInOwl:hasDbXref MESH:C538278 semapv:UnspecifiedMatching -DOID:0111544 Guttmacher syndrome oboInOwl:hasDbXref OMIM:176305 semapv:UnspecifiedMatching DOID:0111544 Guttmacher syndrome oboInOwl:hasDbXref ORDO:2957 semapv:UnspecifiedMatching DOID:0111544 Guttmacher syndrome oboInOwl:hasDbXref UMLS:C1867801 semapv:UnspecifiedMatching -DOID:0111544 Guttmacher syndrome skos:exactMatch OMIM:176305 semapv:UnspecifiedMatching DOID:0111545 familial male-limited precocious puberty oboInOwl:hasDbXref GARD:4475 semapv:UnspecifiedMatching DOID:0111545 familial male-limited precocious puberty oboInOwl:hasDbXref MESH:C536961 semapv:UnspecifiedMatching DOID:0111545 familial male-limited precocious puberty oboInOwl:hasDbXref MESH:D011629 semapv:UnspecifiedMatching -DOID:0111545 familial male-limited precocious puberty oboInOwl:hasDbXref OMIM:176410 semapv:UnspecifiedMatching DOID:0111545 familial male-limited precocious puberty oboInOwl:hasDbXref ORDO:3000 semapv:UnspecifiedMatching DOID:0111545 familial male-limited precocious puberty oboInOwl:hasDbXref UMLS:C0342549 semapv:UnspecifiedMatching DOID:0111545 familial male-limited precocious puberty oboInOwl:hasDbXref UMLS:C1504412 semapv:UnspecifiedMatching -DOID:0111545 familial male-limited precocious puberty skos:exactMatch OMIM:176410 semapv:UnspecifiedMatching DOID:0111546 Currarino syndrome oboInOwl:hasDbXref GARD:1626 semapv:UnspecifiedMatching DOID:0111546 Currarino syndrome oboInOwl:hasDbXref MESH:C536221 semapv:UnspecifiedMatching -DOID:0111546 Currarino syndrome oboInOwl:hasDbXref OMIM:176450 semapv:UnspecifiedMatching DOID:0111546 Currarino syndrome oboInOwl:hasDbXref ORDO:1552 semapv:UnspecifiedMatching DOID:0111546 Currarino syndrome oboInOwl:hasDbXref UMLS:C1531773 semapv:UnspecifiedMatching -DOID:0111546 Currarino syndrome skos:exactMatch OMIM:176450 semapv:UnspecifiedMatching -DOID:0111547 retinal arterial tortuosity oboInOwl:hasDbXref OMIM:180000 semapv:UnspecifiedMatching DOID:0111547 retinal arterial tortuosity oboInOwl:hasDbXref ORDO:75326 semapv:UnspecifiedMatching -DOID:0111547 retinal arterial tortuosity skos:exactMatch OMIM:180000 semapv:UnspecifiedMatching DOID:0111548 ring dermoid of cornea oboInOwl:hasDbXref GARD:9696 semapv:UnspecifiedMatching DOID:0111548 ring dermoid of cornea oboInOwl:hasDbXref MESH:C535684 semapv:UnspecifiedMatching -DOID:0111548 ring dermoid of cornea oboInOwl:hasDbXref OMIM:180550 semapv:UnspecifiedMatching DOID:0111548 ring dermoid of cornea oboInOwl:hasDbXref ORDO:91481 semapv:UnspecifiedMatching DOID:0111548 ring dermoid of cornea oboInOwl:hasDbXref UMLS:C1867155 semapv:UnspecifiedMatching -DOID:0111548 ring dermoid of cornea skos:exactMatch OMIM:180550 semapv:UnspecifiedMatching DOID:0111549 aplasia of lacrimal and salivary glands oboInOwl:hasDbXref ICD9CM:750.21 semapv:UnspecifiedMatching DOID:0111549 aplasia of lacrimal and salivary glands oboInOwl:hasDbXref MESH:C562407 semapv:UnspecifiedMatching -DOID:0111549 aplasia of lacrimal and salivary glands oboInOwl:hasDbXref OMIM:180920 semapv:UnspecifiedMatching DOID:0111549 aplasia of lacrimal and salivary glands oboInOwl:hasDbXref ORDO:86815 semapv:UnspecifiedMatching DOID:0111549 aplasia of lacrimal and salivary glands oboInOwl:hasDbXref UMLS:C0158667 semapv:UnspecifiedMatching -DOID:0111549 aplasia of lacrimal and salivary glands skos:exactMatch OMIM:180920 semapv:UnspecifiedMatching DOID:0111550 scalp-ear-nipple syndrome oboInOwl:hasDbXref GARD:159 semapv:UnspecifiedMatching DOID:0111550 scalp-ear-nipple syndrome oboInOwl:hasDbXref MESH:C536623 semapv:UnspecifiedMatching -DOID:0111550 scalp-ear-nipple syndrome oboInOwl:hasDbXref OMIM:181270 semapv:UnspecifiedMatching DOID:0111550 scalp-ear-nipple syndrome oboInOwl:hasDbXref ORDO:2036 semapv:UnspecifiedMatching DOID:0111550 scalp-ear-nipple syndrome oboInOwl:hasDbXref UMLS:C1867020 semapv:UnspecifiedMatching -DOID:0111550 scalp-ear-nipple syndrome skos:exactMatch OMIM:181270 semapv:UnspecifiedMatching DOID:0111551 neurogenic scapuloperoneal syndrome Kaeser type oboInOwl:hasDbXref GARD:10312 semapv:UnspecifiedMatching DOID:0111551 neurogenic scapuloperoneal syndrome Kaeser type oboInOwl:hasDbXref MESH:C566695 semapv:UnspecifiedMatching -DOID:0111551 neurogenic scapuloperoneal syndrome Kaeser type oboInOwl:hasDbXref OMIM:181400 semapv:UnspecifiedMatching DOID:0111551 neurogenic scapuloperoneal syndrome Kaeser type oboInOwl:hasDbXref ORDO:85146 semapv:UnspecifiedMatching DOID:0111551 neurogenic scapuloperoneal syndrome Kaeser type oboInOwl:hasDbXref UMLS:C1867005 semapv:UnspecifiedMatching -DOID:0111551 neurogenic scapuloperoneal syndrome Kaeser type skos:exactMatch OMIM:181400 semapv:UnspecifiedMatching DOID:0111552 scapuloperoneal spinal muscular atrophy oboInOwl:hasDbXref GARD:10314 semapv:UnspecifiedMatching DOID:0111552 scapuloperoneal spinal muscular atrophy oboInOwl:hasDbXref ICD10CM:G12.1 semapv:UnspecifiedMatching DOID:0111552 scapuloperoneal spinal muscular atrophy oboInOwl:hasDbXref MESH:D009134 semapv:UnspecifiedMatching -DOID:0111552 scapuloperoneal spinal muscular atrophy oboInOwl:hasDbXref OMIM:181405 semapv:UnspecifiedMatching DOID:0111552 scapuloperoneal spinal muscular atrophy oboInOwl:hasDbXref ORDO:431255 semapv:UnspecifiedMatching DOID:0111552 scapuloperoneal spinal muscular atrophy oboInOwl:hasDbXref UMLS:C0751335 semapv:UnspecifiedMatching -DOID:0111552 scapuloperoneal spinal muscular atrophy skos:exactMatch OMIM:181405 semapv:UnspecifiedMatching DOID:0111553 spondyloepiphyseal dysplasia Maroteaux type oboInOwl:hasDbXref GARD:994 semapv:UnspecifiedMatching -DOID:0111553 spondyloepiphyseal dysplasia Maroteaux type oboInOwl:hasDbXref OMIM:184095 semapv:UnspecifiedMatching DOID:0111553 spondyloepiphyseal dysplasia Maroteaux type oboInOwl:hasDbXref ORDO:263482 semapv:UnspecifiedMatching DOID:0111553 spondyloepiphyseal dysplasia Maroteaux type oboInOwl:hasDbXref UMLS:C3159322 semapv:UnspecifiedMatching -DOID:0111553 spondyloepiphyseal dysplasia Maroteaux type skos:exactMatch OMIM:184095 semapv:UnspecifiedMatching DOID:0111554 spondylometaphyseal dysplasia Kozlowski type oboInOwl:hasDbXref GARD:3047 semapv:UnspecifiedMatching DOID:0111554 spondylometaphyseal dysplasia Kozlowski type oboInOwl:hasDbXref MESH:C535797 semapv:UnspecifiedMatching -DOID:0111554 spondylometaphyseal dysplasia Kozlowski type oboInOwl:hasDbXref OMIM:184252 semapv:UnspecifiedMatching DOID:0111554 spondylometaphyseal dysplasia Kozlowski type oboInOwl:hasDbXref ORDO:93314 semapv:UnspecifiedMatching DOID:0111554 spondylometaphyseal dysplasia Kozlowski type oboInOwl:hasDbXref UMLS:C0265280 semapv:UnspecifiedMatching -DOID:0111554 spondylometaphyseal dysplasia Kozlowski type skos:exactMatch OMIM:184252 semapv:UnspecifiedMatching -DOID:0111555 Alkuraya-Kucinskas syndrome oboInOwl:hasDbXref OMIM:617822 semapv:UnspecifiedMatching -DOID:0111555 Alkuraya-Kucinskas syndrome skos:exactMatch OMIM:617822 semapv:UnspecifiedMatching DOID:0111556 steatocystoma multiplex oboInOwl:hasDbXref GARD:5003 semapv:UnspecifiedMatching DOID:0111556 steatocystoma multiplex oboInOwl:hasDbXref MESH:D062685 semapv:UnspecifiedMatching -DOID:0111556 steatocystoma multiplex oboInOwl:hasDbXref OMIM:184500 semapv:UnspecifiedMatching DOID:0111556 steatocystoma multiplex oboInOwl:hasDbXref ORDO:841 semapv:UnspecifiedMatching -DOID:0111556 steatocystoma multiplex skos:exactMatch OMIM:184500 semapv:UnspecifiedMatching -DOID:0111557 Charcot-Marie-Tooth disease type 2A2B oboInOwl:hasDbXref OMIM:617087 semapv:UnspecifiedMatching DOID:0111557 Charcot-Marie-Tooth disease type 2A2B oboInOwl:hasDbXref ORDO:90118 semapv:UnspecifiedMatching -DOID:0111557 Charcot-Marie-Tooth disease type 2A2B skos:exactMatch OMIM:617087 semapv:UnspecifiedMatching -DOID:0111558 Charcot-Marie-Tooth disease type 2DD oboInOwl:hasDbXref OMIM:618036 semapv:UnspecifiedMatching DOID:0111558 Charcot-Marie-Tooth disease type 2DD oboInOwl:hasDbXref ORDO:521414 semapv:UnspecifiedMatching -DOID:0111558 Charcot-Marie-Tooth disease type 2DD skos:exactMatch OMIM:618036 semapv:UnspecifiedMatching -DOID:0111559 Charcot-Marie-Tooth disease type 2EE oboInOwl:hasDbXref OMIM:618400 semapv:UnspecifiedMatching -DOID:0111559 Charcot-Marie-Tooth disease type 2EE skos:exactMatch OMIM:618400 semapv:UnspecifiedMatching -DOID:0111560 Charcot-Marie-Tooth disease type 1G oboInOwl:hasDbXref OMIM:618279 semapv:UnspecifiedMatching DOID:0111560 Charcot-Marie-Tooth disease type 1G oboInOwl:hasDbXref ORDO:476394 semapv:UnspecifiedMatching -DOID:0111560 Charcot-Marie-Tooth disease type 1G skos:exactMatch OMIM:618279 semapv:UnspecifiedMatching DOID:0111561 stiff skin syndrome oboInOwl:hasDbXref GARD:5025 semapv:UnspecifiedMatching DOID:0111561 stiff skin syndrome oboInOwl:hasDbXref MESH:C566112 semapv:UnspecifiedMatching DOID:0111561 stiff skin syndrome oboInOwl:hasDbXref NCI:C118636 semapv:UnspecifiedMatching -DOID:0111561 stiff skin syndrome oboInOwl:hasDbXref OMIM:184900 semapv:UnspecifiedMatching DOID:0111561 stiff skin syndrome oboInOwl:hasDbXref ORDO:2833 semapv:UnspecifiedMatching DOID:0111561 stiff skin syndrome oboInOwl:hasDbXref UMLS:C1861456 semapv:UnspecifiedMatching -DOID:0111561 stiff skin syndrome skos:exactMatch OMIM:184900 semapv:UnspecifiedMatching DOID:0111562 overhydrated hereditary stomatocytosis oboInOwl:hasDbXref GARD:4183 semapv:UnspecifiedMatching -DOID:0111562 overhydrated hereditary stomatocytosis oboInOwl:hasDbXref OMIM:185000 semapv:UnspecifiedMatching DOID:0111562 overhydrated hereditary stomatocytosis oboInOwl:hasDbXref ORDO:3203 semapv:UnspecifiedMatching -DOID:0111562 overhydrated hereditary stomatocytosis skos:exactMatch OMIM:185000 semapv:UnspecifiedMatching DOID:0111563 Sturge-Weber syndrome oboInOwl:hasDbXref GARD:7706 semapv:UnspecifiedMatching DOID:0111563 Sturge-Weber syndrome oboInOwl:hasDbXref ICD10CM:Q85.89 semapv:UnspecifiedMatching DOID:0111563 Sturge-Weber syndrome oboInOwl:hasDbXref MESH:D013341 semapv:UnspecifiedMatching DOID:0111563 Sturge-Weber syndrome oboInOwl:hasDbXref NCI:C3391 semapv:UnspecifiedMatching -DOID:0111563 Sturge-Weber syndrome oboInOwl:hasDbXref OMIM:185300 semapv:UnspecifiedMatching DOID:0111563 Sturge-Weber syndrome oboInOwl:hasDbXref ORDO:3205 semapv:UnspecifiedMatching DOID:0111563 Sturge-Weber syndrome oboInOwl:hasDbXref UMLS:C0038505 semapv:UnspecifiedMatching -DOID:0111563 Sturge-Weber syndrome skos:exactMatch OMIM:185300 semapv:UnspecifiedMatching DOID:0111564 hypoplastic or aplastic tibia with polydactyly oboInOwl:hasDbXref GARD:8309 semapv:UnspecifiedMatching DOID:0111564 hypoplastic or aplastic tibia with polydactyly oboInOwl:hasDbXref MESH:C535564 semapv:UnspecifiedMatching -DOID:0111564 hypoplastic or aplastic tibia with polydactyly oboInOwl:hasDbXref OMIM:188740 semapv:UnspecifiedMatching DOID:0111564 hypoplastic or aplastic tibia with polydactyly oboInOwl:hasDbXref ORDO:3332 semapv:UnspecifiedMatching DOID:0111564 hypoplastic or aplastic tibia with polydactyly oboInOwl:hasDbXref ORDO:988 semapv:UnspecifiedMatching DOID:0111564 hypoplastic or aplastic tibia with polydactyly oboInOwl:hasDbXref UMLS:C1861099 semapv:UnspecifiedMatching -DOID:0111564 hypoplastic or aplastic tibia with polydactyly skos:exactMatch OMIM:188740 semapv:UnspecifiedMatching DOID:0111565 trichodontoosseous syndrome oboInOwl:hasDbXref GARD:7799 semapv:UnspecifiedMatching DOID:0111565 trichodontoosseous syndrome oboInOwl:hasDbXref MESH:C536549 semapv:UnspecifiedMatching -DOID:0111565 trichodontoosseous syndrome oboInOwl:hasDbXref OMIM:190320 semapv:UnspecifiedMatching DOID:0111565 trichodontoosseous syndrome oboInOwl:hasDbXref ORDO:3352 semapv:UnspecifiedMatching DOID:0111565 trichodontoosseous syndrome oboInOwl:hasDbXref UMLS:C0265333 semapv:UnspecifiedMatching -DOID:0111565 trichodontoosseous syndrome skos:exactMatch OMIM:190320 semapv:UnspecifiedMatching -DOID:0111566 familial isolated trichomegaly oboInOwl:hasDbXref OMIM:190330 semapv:UnspecifiedMatching DOID:0111566 familial isolated trichomegaly oboInOwl:hasDbXref ORDO:411788 semapv:UnspecifiedMatching -DOID:0111566 familial isolated trichomegaly skos:exactMatch OMIM:190330 semapv:UnspecifiedMatching DOID:0111567 retinal vasculopathy with cerebral leukodystrophy oboInOwl:hasDbXref GARD:1217 semapv:UnspecifiedMatching DOID:0111567 retinal vasculopathy with cerebral leukodystrophy oboInOwl:hasDbXref MESH:C566007 semapv:UnspecifiedMatching -DOID:0111567 retinal vasculopathy with cerebral leukodystrophy oboInOwl:hasDbXref OMIM:192315 semapv:UnspecifiedMatching DOID:0111567 retinal vasculopathy with cerebral leukodystrophy oboInOwl:hasDbXref ORDO:247691 semapv:UnspecifiedMatching DOID:0111567 retinal vasculopathy with cerebral leukodystrophy oboInOwl:hasDbXref UMLS:C1860518 semapv:UnspecifiedMatching -DOID:0111567 retinal vasculopathy with cerebral leukodystrophy skos:exactMatch OMIM:192315 semapv:UnspecifiedMatching DOID:0111568 congenital vertical talus oboInOwl:hasDbXref GARD:5488 semapv:UnspecifiedMatching DOID:0111568 congenital vertical talus oboInOwl:hasDbXref MEDDRA:10066242 semapv:UnspecifiedMatching DOID:0111568 congenital vertical talus oboInOwl:hasDbXref MESH:D005413 semapv:UnspecifiedMatching -DOID:0111568 congenital vertical talus oboInOwl:hasDbXref OMIM:192950 semapv:UnspecifiedMatching DOID:0111568 congenital vertical talus oboInOwl:hasDbXref ORDO:178382 semapv:UnspecifiedMatching DOID:0111568 congenital vertical talus oboInOwl:hasDbXref UMLS:C0240912 semapv:UnspecifiedMatching -DOID:0111568 congenital vertical talus skos:exactMatch OMIM:192950 semapv:UnspecifiedMatching DOID:0111569 autosomal dominant vitreoretinochoroidopathy oboInOwl:hasDbXref GARD:5507 semapv:UnspecifiedMatching DOID:0111569 autosomal dominant vitreoretinochoroidopathy oboInOwl:hasDbXref MESH:C536352 semapv:UnspecifiedMatching -DOID:0111569 autosomal dominant vitreoretinochoroidopathy oboInOwl:hasDbXref OMIM:193220 semapv:UnspecifiedMatching DOID:0111569 autosomal dominant vitreoretinochoroidopathy oboInOwl:hasDbXref ORDO:3086 semapv:UnspecifiedMatching DOID:0111569 autosomal dominant vitreoretinochoroidopathy oboInOwl:hasDbXref UMLS:C3888099 semapv:UnspecifiedMatching -DOID:0111569 autosomal dominant vitreoretinochoroidopathy skos:exactMatch OMIM:193220 semapv:UnspecifiedMatching DOID:0111570 snowflake vitreoretinal degeneration oboInOwl:hasDbXref GARD:9706 semapv:UnspecifiedMatching DOID:0111570 snowflake vitreoretinal degeneration oboInOwl:hasDbXref MESH:C536677 semapv:UnspecifiedMatching -DOID:0111570 snowflake vitreoretinal degeneration oboInOwl:hasDbXref OMIM:193230 semapv:UnspecifiedMatching DOID:0111570 snowflake vitreoretinal degeneration oboInOwl:hasDbXref ORDO:91496 semapv:UnspecifiedMatching DOID:0111570 snowflake vitreoretinal degeneration oboInOwl:hasDbXref UMLS:C1860405 semapv:UnspecifiedMatching -DOID:0111570 snowflake vitreoretinal degeneration skos:exactMatch OMIM:193230 semapv:UnspecifiedMatching DOID:0111571 Weyers acrofacial dysostosis oboInOwl:hasDbXref GARD:497 semapv:UnspecifiedMatching DOID:0111571 Weyers acrofacial dysostosis oboInOwl:hasDbXref MESH:C536695 semapv:UnspecifiedMatching -DOID:0111571 Weyers acrofacial dysostosis oboInOwl:hasDbXref OMIM:193530 semapv:UnspecifiedMatching DOID:0111571 Weyers acrofacial dysostosis oboInOwl:hasDbXref ORDO:952 semapv:UnspecifiedMatching DOID:0111571 Weyers acrofacial dysostosis oboInOwl:hasDbXref UMLS:C0457013 semapv:UnspecifiedMatching -DOID:0111571 Weyers acrofacial dysostosis skos:exactMatch OMIM:193530 semapv:UnspecifiedMatching DOID:0111572 familial woolly hair syndrome oboInOwl:hasDbXref GARD:5597 semapv:UnspecifiedMatching DOID:0111572 familial woolly hair syndrome oboInOwl:hasDbXref ORDO:170 semapv:UnspecifiedMatching -DOID:0111573 autosomal dominant woolly hair oboInOwl:hasDbXref OMIM:194300 semapv:UnspecifiedMatching -DOID:0111573 autosomal dominant woolly hair skos:exactMatch OMIM:194300 semapv:UnspecifiedMatching -DOID:0111574 autosomal recessive woolly hair 3 oboInOwl:hasDbXref OMIM:616760 semapv:UnspecifiedMatching -DOID:0111574 autosomal recessive woolly hair 3 skos:exactMatch OMIM:616760 semapv:UnspecifiedMatching DOID:0111575 dehydrated hereditary stomatocytosis oboInOwl:hasDbXref GARD:5623 semapv:UnspecifiedMatching DOID:0111575 dehydrated hereditary stomatocytosis oboInOwl:hasDbXref MESH:C536764 semapv:UnspecifiedMatching DOID:0111575 dehydrated hereditary stomatocytosis oboInOwl:hasDbXref ORDO:3202 semapv:UnspecifiedMatching DOID:0111575 dehydrated hereditary stomatocytosis oboInOwl:hasDbXref UMLS:C0272051 semapv:UnspecifiedMatching -DOID:0111576 dehydrated hereditary stomatocytosis 1 oboInOwl:hasDbXref OMIM:194380 semapv:UnspecifiedMatching -DOID:0111576 dehydrated hereditary stomatocytosis 1 skos:exactMatch OMIM:194380 semapv:UnspecifiedMatching -DOID:0111577 dehydrated hereditary stomatocytosis 2 oboInOwl:hasDbXref OMIM:616689 semapv:UnspecifiedMatching -DOID:0111577 dehydrated hereditary stomatocytosis 2 skos:exactMatch OMIM:616689 semapv:UnspecifiedMatching DOID:0111578 Gillespie syndrome oboInOwl:hasDbXref GARD:13 semapv:UnspecifiedMatching DOID:0111578 Gillespie syndrome oboInOwl:hasDbXref MESH:C536370 semapv:UnspecifiedMatching -DOID:0111578 Gillespie syndrome oboInOwl:hasDbXref OMIM:206700 semapv:UnspecifiedMatching DOID:0111578 Gillespie syndrome oboInOwl:hasDbXref ORDO:1065 semapv:UnspecifiedMatching DOID:0111578 Gillespie syndrome oboInOwl:hasDbXref UMLS:C0431401 semapv:UnspecifiedMatching -DOID:0111578 Gillespie syndrome skos:exactMatch OMIM:206700 semapv:UnspecifiedMatching DOID:0111579 asthma, nasal polyps, and aspirin intolerance oboInOwl:hasDbXref MESH:C565935 semapv:UnspecifiedMatching -DOID:0111579 asthma, nasal polyps, and aspirin intolerance oboInOwl:hasDbXref OMIM:208550 semapv:UnspecifiedMatching -DOID:0111579 asthma, nasal polyps, and aspirin intolerance skos:exactMatch OMIM:208550 semapv:UnspecifiedMatching DOID:0111580 Behr syndrome oboInOwl:hasDbXref GARD:849 semapv:UnspecifiedMatching DOID:0111580 Behr syndrome oboInOwl:hasDbXref MESH:C537669 semapv:UnspecifiedMatching DOID:0111580 Behr syndrome oboInOwl:hasDbXref NCI:C177251 semapv:UnspecifiedMatching -DOID:0111580 Behr syndrome oboInOwl:hasDbXref OMIM:210000 semapv:UnspecifiedMatching DOID:0111580 Behr syndrome oboInOwl:hasDbXref UMLS:C0221061 semapv:UnspecifiedMatching -DOID:0111580 Behr syndrome skos:exactMatch OMIM:210000 semapv:UnspecifiedMatching DOID:0111581 C syndrome oboInOwl:hasDbXref GARD:5978 semapv:UnspecifiedMatching DOID:0111581 C syndrome oboInOwl:hasDbXref MESH:C537418 semapv:UnspecifiedMatching -DOID:0111581 C syndrome oboInOwl:hasDbXref OMIM:211750 semapv:UnspecifiedMatching DOID:0111581 C syndrome oboInOwl:hasDbXref ORDO:1308 semapv:UnspecifiedMatching DOID:0111581 C syndrome oboInOwl:hasDbXref UMLS:C0796095 semapv:UnspecifiedMatching -DOID:0111581 C syndrome skos:exactMatch OMIM:211750 semapv:UnspecifiedMatching DOID:0111582 hereditary arterial and articular multiple calcification syndrome oboInOwl:hasDbXref GARD:10762 semapv:UnspecifiedMatching -DOID:0111582 hereditary arterial and articular multiple calcification syndrome oboInOwl:hasDbXref OMIM:211800 semapv:UnspecifiedMatching DOID:0111582 hereditary arterial and articular multiple calcification syndrome oboInOwl:hasDbXref ORDO:289601 semapv:UnspecifiedMatching -DOID:0111582 hereditary arterial and articular multiple calcification syndrome skos:exactMatch OMIM:211800 semapv:UnspecifiedMatching DOID:0111583 carboxypeptidase N deficiency oboInOwl:hasDbXref MESH:C562876 semapv:UnspecifiedMatching DOID:0111583 carboxypeptidase N deficiency oboInOwl:hasDbXref NCI:C132196 semapv:UnspecifiedMatching -DOID:0111583 carboxypeptidase N deficiency oboInOwl:hasDbXref OMIM:212070 semapv:UnspecifiedMatching DOID:0111583 carboxypeptidase N deficiency oboInOwl:hasDbXref UMLS:C0398782 semapv:UnspecifiedMatching -DOID:0111583 carboxypeptidase N deficiency skos:exactMatch OMIM:212070 semapv:UnspecifiedMatching DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref GARD:3373 semapv:UnspecifiedMatching DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref MESH:C535580 semapv:UnspecifiedMatching DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref MESH:C535703 semapv:UnspecifiedMatching DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref NCI:C174217 semapv:UnspecifiedMatching -DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref OMIM:212112 semapv:UnspecifiedMatching DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref ORDO:2229 semapv:UnspecifiedMatching DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref UMLS:C0796031 semapv:UnspecifiedMatching DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref UMLS:C0796083 semapv:UnspecifiedMatching -DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:exactMatch OMIM:212112 semapv:UnspecifiedMatching DOID:0111585 carnitine-acylcarnitine translocase deficiency oboInOwl:hasDbXref GARD:1123 semapv:UnspecifiedMatching DOID:0111585 carnitine-acylcarnitine translocase deficiency oboInOwl:hasDbXref MESH:C562812 semapv:UnspecifiedMatching DOID:0111585 carnitine-acylcarnitine translocase deficiency oboInOwl:hasDbXref NCI:C133086 semapv:UnspecifiedMatching -DOID:0111585 carnitine-acylcarnitine translocase deficiency oboInOwl:hasDbXref OMIM:212138 semapv:UnspecifiedMatching DOID:0111585 carnitine-acylcarnitine translocase deficiency oboInOwl:hasDbXref ORDO:159 semapv:UnspecifiedMatching DOID:0111585 carnitine-acylcarnitine translocase deficiency oboInOwl:hasDbXref UMLS:C0342791 semapv:UnspecifiedMatching -DOID:0111585 carnitine-acylcarnitine translocase deficiency skos:exactMatch OMIM:212138 semapv:UnspecifiedMatching DOID:0111586 Martsolf syndrome oboInOwl:hasDbXref GARD:3406 semapv:UnspecifiedMatching DOID:0111586 Martsolf syndrome oboInOwl:hasDbXref MESH:C536028 semapv:UnspecifiedMatching -DOID:0111586 Martsolf syndrome oboInOwl:hasDbXref OMIM:212720 semapv:UnspecifiedMatching DOID:0111586 Martsolf syndrome oboInOwl:hasDbXref ORDO:1387 semapv:UnspecifiedMatching DOID:0111586 Martsolf syndrome oboInOwl:hasDbXref UMLS:C0796037 semapv:UnspecifiedMatching -DOID:0111586 Martsolf syndrome skos:exactMatch OMIM:212720 semapv:UnspecifiedMatching DOID:0111587 Gordon Holmes syndrome oboInOwl:hasDbXref MESH:C565870 semapv:UnspecifiedMatching -DOID:0111587 Gordon Holmes syndrome oboInOwl:hasDbXref OMIM:212840 semapv:UnspecifiedMatching DOID:0111587 Gordon Holmes syndrome oboInOwl:hasDbXref ORDO:1173 semapv:UnspecifiedMatching DOID:0111587 Gordon Holmes syndrome oboInOwl:hasDbXref UMLS:C1859305 semapv:UnspecifiedMatching -DOID:0111587 Gordon Holmes syndrome skos:exactMatch OMIM:212840 semapv:UnspecifiedMatching DOID:0111588 Greenberg dysplasia oboInOwl:hasDbXref GARD:8754 semapv:UnspecifiedMatching DOID:0111588 Greenberg dysplasia oboInOwl:hasDbXref MESH:C535858 semapv:UnspecifiedMatching -DOID:0111588 Greenberg dysplasia oboInOwl:hasDbXref OMIM:215140 semapv:UnspecifiedMatching DOID:0111588 Greenberg dysplasia oboInOwl:hasDbXref ORDO:1426 semapv:UnspecifiedMatching DOID:0111588 Greenberg dysplasia oboInOwl:hasDbXref UMLS:C2931048 semapv:UnspecifiedMatching -DOID:0111588 Greenberg dysplasia skos:exactMatch OMIM:215140 semapv:UnspecifiedMatching DOID:0111589 COACH syndrome oboInOwl:hasDbXref GARD:1410 semapv:UnspecifiedMatching DOID:0111589 COACH syndrome oboInOwl:hasDbXref MESH:C536430 semapv:UnspecifiedMatching -DOID:0111589 COACH syndrome oboInOwl:hasDbXref OMIM:216360 semapv:UnspecifiedMatching DOID:0111589 COACH syndrome oboInOwl:hasDbXref ORDO:1454 semapv:UnspecifiedMatching DOID:0111589 COACH syndrome oboInOwl:hasDbXref UMLS:C1857662 semapv:UnspecifiedMatching -DOID:0111589 COACH syndrome skos:exactMatch OMIM:216360 semapv:UnspecifiedMatching DOID:0111590 Cohen syndrome oboInOwl:hasDbXref GARD:6126 semapv:UnspecifiedMatching DOID:0111590 Cohen syndrome oboInOwl:hasDbXref MEDDRA:10049066 semapv:UnspecifiedMatching DOID:0111590 Cohen syndrome oboInOwl:hasDbXref MESH:C536438 semapv:UnspecifiedMatching -DOID:0111590 Cohen syndrome oboInOwl:hasDbXref OMIM:216550 semapv:UnspecifiedMatching DOID:0111590 Cohen syndrome oboInOwl:hasDbXref ORDO:193 semapv:UnspecifiedMatching DOID:0111590 Cohen syndrome oboInOwl:hasDbXref UMLS:C0265223 semapv:UnspecifiedMatching -DOID:0111590 Cohen syndrome skos:exactMatch OMIM:216550 semapv:UnspecifiedMatching DOID:0111591 congenital heart defects, hamartomas of tongue, and polysyndactyly oboInOwl:hasDbXref GARD:4166 semapv:UnspecifiedMatching DOID:0111591 congenital heart defects, hamartomas of tongue, and polysyndactyly oboInOwl:hasDbXref MESH:C535849 semapv:UnspecifiedMatching -DOID:0111591 congenital heart defects, hamartomas of tongue, and polysyndactyly oboInOwl:hasDbXref OMIM:217085 semapv:UnspecifiedMatching DOID:0111591 congenital heart defects, hamartomas of tongue, and polysyndactyly oboInOwl:hasDbXref ORDO:1338 semapv:UnspecifiedMatching DOID:0111591 congenital heart defects, hamartomas of tongue, and polysyndactyly oboInOwl:hasDbXref UMLS:C2931046 semapv:UnspecifiedMatching -DOID:0111591 congenital heart defects, hamartomas of tongue, and polysyndactyly skos:exactMatch OMIM:217085 semapv:UnspecifiedMatching DOID:0111592 plasminogen deficiency type I oboInOwl:hasDbXref GARD:4380 semapv:UnspecifiedMatching DOID:0111592 plasminogen deficiency type I oboInOwl:hasDbXref ICD10CM:E88.02 semapv:UnspecifiedMatching DOID:0111592 plasminogen deficiency type I oboInOwl:hasDbXref MESH:C566897 semapv:UnspecifiedMatching DOID:0111592 plasminogen deficiency type I oboInOwl:hasDbXref MESH:C580017 semapv:UnspecifiedMatching -DOID:0111592 plasminogen deficiency type I oboInOwl:hasDbXref OMIM:217090 semapv:UnspecifiedMatching DOID:0111592 plasminogen deficiency type I oboInOwl:hasDbXref ORDO:722 semapv:UnspecifiedMatching DOID:0111592 plasminogen deficiency type I oboInOwl:hasDbXref UMLS:C0398621 semapv:UnspecifiedMatching DOID:0111592 plasminogen deficiency type I oboInOwl:hasDbXref UMLS:C1968804 semapv:UnspecifiedMatching -DOID:0111592 plasminogen deficiency type I skos:exactMatch OMIM:217090 semapv:UnspecifiedMatching DOID:0111593 distal arthrogryposis type 10 oboInOwl:hasDbXref MESH:C566069 semapv:UnspecifiedMatching -DOID:0111593 distal arthrogryposis type 10 oboInOwl:hasDbXref OMIM:187370 semapv:UnspecifiedMatching DOID:0111593 distal arthrogryposis type 10 oboInOwl:hasDbXref ORDO:251515 semapv:UnspecifiedMatching -DOID:0111593 distal arthrogryposis type 10 skos:exactMatch OMIM:187370 semapv:UnspecifiedMatching -DOID:0111594 distal arthrogryposis type 5D oboInOwl:hasDbXref OMIM:615065 semapv:UnspecifiedMatching DOID:0111594 distal arthrogryposis type 5D oboInOwl:hasDbXref ORDO:329457 semapv:UnspecifiedMatching -DOID:0111594 distal arthrogryposis type 5D skos:exactMatch OMIM:615065 semapv:UnspecifiedMatching DOID:0111595 congenital contractural arachnodactyly oboInOwl:hasDbXref MESH:C536211 semapv:UnspecifiedMatching DOID:0111595 congenital contractural arachnodactyly oboInOwl:hasDbXref NCI:C129865 semapv:UnspecifiedMatching -DOID:0111595 congenital contractural arachnodactyly oboInOwl:hasDbXref OMIM:121050 semapv:UnspecifiedMatching DOID:0111595 congenital contractural arachnodactyly oboInOwl:hasDbXref ORDO:115 semapv:UnspecifiedMatching DOID:0111595 congenital contractural arachnodactyly oboInOwl:hasDbXref UMLS:C0220668 semapv:UnspecifiedMatching -DOID:0111595 congenital contractural arachnodactyly skos:exactMatch OMIM:121050 semapv:UnspecifiedMatching DOID:0111596 distal arthrogryposis type 1 oboInOwl:hasDbXref GARD:787 semapv:UnspecifiedMatching DOID:0111596 distal arthrogryposis type 1 oboInOwl:hasDbXref MESH:C565097 semapv:UnspecifiedMatching -DOID:0111596 distal arthrogryposis type 1 oboInOwl:hasDbXref OMIM:126050 semapv:UnspecifiedMatching DOID:0111596 distal arthrogryposis type 1 oboInOwl:hasDbXref ORDO:1146 semapv:UnspecifiedMatching -DOID:0111596 distal arthrogryposis type 1 skos:exactMatch OMIM:126050 semapv:UnspecifiedMatching DOID:0111597 distal arthrogryposis type 1A oboInOwl:hasDbXref MESH:C535378 semapv:UnspecifiedMatching -DOID:0111597 distal arthrogryposis type 1A oboInOwl:hasDbXref OMIM:108120 semapv:UnspecifiedMatching -DOID:0111597 distal arthrogryposis type 1A skos:exactMatch OMIM:108120 semapv:UnspecifiedMatching -DOID:0111598 distal arthrogryposis type 1B oboInOwl:hasDbXref OMIM:614335 semapv:UnspecifiedMatching -DOID:0111598 distal arthrogryposis type 1B skos:exactMatch OMIM:614335 semapv:UnspecifiedMatching DOID:0111599 distal arthrogryposis type 2B oboInOwl:hasDbXref MESH:C538400 semapv:UnspecifiedMatching DOID:0111599 distal arthrogryposis type 2B oboInOwl:hasDbXref ORDO:1147 semapv:UnspecifiedMatching -DOID:0111600 distal arthrogryposis type 2B1 oboInOwl:hasDbXref OMIM:601680 semapv:UnspecifiedMatching -DOID:0111600 distal arthrogryposis type 2B1 skos:exactMatch OMIM:601680 semapv:UnspecifiedMatching -DOID:0111601 distal arthrogryposis type 2B2 oboInOwl:hasDbXref OMIM:618435 semapv:UnspecifiedMatching -DOID:0111601 distal arthrogryposis type 2B2 skos:exactMatch OMIM:618435 semapv:UnspecifiedMatching -DOID:0111602 distal arthrogryposis type 2B3 oboInOwl:hasDbXref OMIM:618436 semapv:UnspecifiedMatching -DOID:0111602 distal arthrogryposis type 2B3 skos:exactMatch OMIM:618436 semapv:UnspecifiedMatching DOID:0111603 distal arthrogryposis type 7 oboInOwl:hasDbXref GARD:2621 semapv:UnspecifiedMatching DOID:0111603 distal arthrogryposis type 7 oboInOwl:hasDbXref MESH:C535857 semapv:UnspecifiedMatching -DOID:0111603 distal arthrogryposis type 7 oboInOwl:hasDbXref OMIM:121070 semapv:UnspecifiedMatching -DOID:0111603 distal arthrogryposis type 7 oboInOwl:hasDbXref OMIM:158300 semapv:UnspecifiedMatching DOID:0111603 distal arthrogryposis type 7 oboInOwl:hasDbXref ORDO:3377 semapv:UnspecifiedMatching DOID:0111604 Freeman-Sheldon syndrome oboInOwl:hasDbXref ICD10CM:Q87.0 semapv:UnspecifiedMatching DOID:0111604 Freeman-Sheldon syndrome oboInOwl:hasDbXref MESH:C535483 semapv:UnspecifiedMatching DOID:0111604 Freeman-Sheldon syndrome oboInOwl:hasDbXref NCI:C98931 semapv:UnspecifiedMatching -DOID:0111604 Freeman-Sheldon syndrome oboInOwl:hasDbXref OMIM:193700 semapv:UnspecifiedMatching DOID:0111604 Freeman-Sheldon syndrome oboInOwl:hasDbXref ORDO:2053 semapv:UnspecifiedMatching -DOID:0111604 Freeman-Sheldon syndrome skos:exactMatch OMIM:193700 semapv:UnspecifiedMatching -DOID:0111605 distal arthrogryposis type 2A oboInOwl:hasDbXref OMIM:193700 semapv:UnspecifiedMatching -DOID:0111605 distal arthrogryposis type 2A skos:exactMatch OMIM:193700 semapv:UnspecifiedMatching DOID:0111606 autosomal recessive Whistling face syndrome oboInOwl:hasDbXref GARD:100024 semapv:UnspecifiedMatching -DOID:0111606 autosomal recessive Whistling face syndrome oboInOwl:hasDbXref OMIM:277720 semapv:UnspecifiedMatching -DOID:0111606 autosomal recessive Whistling face syndrome skos:exactMatch OMIM:277720 semapv:UnspecifiedMatching DOID:0111607 distal arthrogryposis type 3 oboInOwl:hasDbXref GARD:2553 semapv:UnspecifiedMatching DOID:0111607 distal arthrogryposis type 3 oboInOwl:hasDbXref MESH:C537288 semapv:UnspecifiedMatching -DOID:0111607 distal arthrogryposis type 3 oboInOwl:hasDbXref OMIM:114300 semapv:UnspecifiedMatching DOID:0111607 distal arthrogryposis type 3 oboInOwl:hasDbXref ORDO:376 semapv:UnspecifiedMatching -DOID:0111607 distal arthrogryposis type 3 skos:exactMatch OMIM:114300 semapv:UnspecifiedMatching DOID:0111608 distal arthrogryposis type 5 oboInOwl:hasDbXref GARD:4047 semapv:UnspecifiedMatching DOID:0111608 distal arthrogryposis type 5 oboInOwl:hasDbXref MESH:C537737 semapv:UnspecifiedMatching -DOID:0111608 distal arthrogryposis type 5 oboInOwl:hasDbXref OMIM:108145 semapv:UnspecifiedMatching -DOID:0111608 distal arthrogryposis type 5 skos:exactMatch OMIM:108145 semapv:UnspecifiedMatching DOID:0111609 distal arthrogryposis type 6 oboInOwl:hasDbXref GARD:784 semapv:UnspecifiedMatching DOID:0111609 distal arthrogryposis type 6 oboInOwl:hasDbXref MESH:C535386 semapv:UnspecifiedMatching -DOID:0111609 distal arthrogryposis type 6 oboInOwl:hasDbXref OMIM:108200 semapv:UnspecifiedMatching DOID:0111609 distal arthrogryposis type 6 oboInOwl:hasDbXref ORDO:1144 semapv:UnspecifiedMatching -DOID:0111609 distal arthrogryposis type 6 skos:exactMatch OMIM:108200 semapv:UnspecifiedMatching DOID:0111610 distal arthrogryposis type 4 oboInOwl:hasDbXref MESH:C563791 semapv:UnspecifiedMatching -DOID:0111610 distal arthrogryposis type 4 oboInOwl:hasDbXref OMIM:609128 semapv:UnspecifiedMatching DOID:0111610 distal arthrogryposis type 4 oboInOwl:hasDbXref ORDO:65720 semapv:UnspecifiedMatching -DOID:0111610 distal arthrogryposis type 4 skos:exactMatch OMIM:609128 semapv:UnspecifiedMatching DOID:0111611 autosomal recessive spinocerebellar ataxia 4 oboInOwl:hasDbXref GARD:4952 semapv:UnspecifiedMatching DOID:0111611 autosomal recessive spinocerebellar ataxia 4 oboInOwl:hasDbXref MESH:C537310 semapv:UnspecifiedMatching -DOID:0111611 autosomal recessive spinocerebellar ataxia 4 oboInOwl:hasDbXref OMIM:607317 semapv:UnspecifiedMatching DOID:0111611 autosomal recessive spinocerebellar ataxia 4 oboInOwl:hasDbXref ORDO:95434 semapv:UnspecifiedMatching DOID:0111611 autosomal recessive spinocerebellar ataxia 4 oboInOwl:hasDbXref UMLS:C1846492 semapv:UnspecifiedMatching -DOID:0111611 autosomal recessive spinocerebellar ataxia 4 skos:exactMatch OMIM:607317 semapv:UnspecifiedMatching DOID:0111612 autosomal recessive spinocerebellar ataxia 3 oboInOwl:hasDbXref GARD:9971 semapv:UnspecifiedMatching DOID:0111612 autosomal recessive spinocerebellar ataxia 3 oboInOwl:hasDbXref MESH:C537309 semapv:UnspecifiedMatching -DOID:0111612 autosomal recessive spinocerebellar ataxia 3 oboInOwl:hasDbXref OMIM:271250 semapv:UnspecifiedMatching DOID:0111612 autosomal recessive spinocerebellar ataxia 3 oboInOwl:hasDbXref ORDO:95433 semapv:UnspecifiedMatching DOID:0111612 autosomal recessive spinocerebellar ataxia 3 oboInOwl:hasDbXref UMLS:C1849094 semapv:UnspecifiedMatching -DOID:0111612 autosomal recessive spinocerebellar ataxia 3 skos:exactMatch OMIM:271250 semapv:UnspecifiedMatching -DOID:0111613 autosomal recessive spinocerebellar ataxia 23 oboInOwl:hasDbXref OMIM:616949 semapv:UnspecifiedMatching DOID:0111613 autosomal recessive spinocerebellar ataxia 23 oboInOwl:hasDbXref ORDO:404493 semapv:UnspecifiedMatching -DOID:0111613 autosomal recessive spinocerebellar ataxia 23 skos:exactMatch OMIM:616949 semapv:UnspecifiedMatching -DOID:0111614 autosomal recessive spinocerebellar ataxia 22 oboInOwl:hasDbXref OMIM:616948 semapv:UnspecifiedMatching -DOID:0111614 autosomal recessive spinocerebellar ataxia 22 skos:exactMatch OMIM:616948 semapv:UnspecifiedMatching -DOID:0111615 autosomal recessive spinocerebellar ataxia 24 oboInOwl:hasDbXref OMIM:617133 semapv:UnspecifiedMatching -DOID:0111615 autosomal recessive spinocerebellar ataxia 24 skos:exactMatch OMIM:617133 semapv:UnspecifiedMatching -DOID:0111616 autosomal recessive spinocerebellar ataxia 27 oboInOwl:hasDbXref OMIM:618369 semapv:UnspecifiedMatching -DOID:0111616 autosomal recessive spinocerebellar ataxia 27 skos:exactMatch OMIM:618369 semapv:UnspecifiedMatching DOID:0111617 autosomal recessive spinocerebellar ataxia 6 oboInOwl:hasDbXref GARD:4954 semapv:UnspecifiedMatching DOID:0111617 autosomal recessive spinocerebellar ataxia 6 oboInOwl:hasDbXref MESH:C537312 semapv:UnspecifiedMatching -DOID:0111617 autosomal recessive spinocerebellar ataxia 6 oboInOwl:hasDbXref OMIM:608029 semapv:UnspecifiedMatching DOID:0111617 autosomal recessive spinocerebellar ataxia 6 oboInOwl:hasDbXref ORDO:284332 semapv:UnspecifiedMatching DOID:0111617 autosomal recessive spinocerebellar ataxia 6 oboInOwl:hasDbXref UMLS:C1842676 semapv:UnspecifiedMatching -DOID:0111617 autosomal recessive spinocerebellar ataxia 6 skos:exactMatch OMIM:608029 semapv:UnspecifiedMatching DOID:0111618 autosomal recessive spinocerebellar ataxia 8 oboInOwl:hasDbXref GARD:12234 semapv:UnspecifiedMatching DOID:0111618 autosomal recessive spinocerebellar ataxia 8 oboInOwl:hasDbXref MESH:C565188 semapv:UnspecifiedMatching -DOID:0111618 autosomal recessive spinocerebellar ataxia 8 oboInOwl:hasDbXref OMIM:610743 semapv:UnspecifiedMatching DOID:0111618 autosomal recessive spinocerebellar ataxia 8 oboInOwl:hasDbXref ORDO:88644 semapv:UnspecifiedMatching DOID:0111618 autosomal recessive spinocerebellar ataxia 8 oboInOwl:hasDbXref UMLS:C1853116 semapv:UnspecifiedMatching -DOID:0111618 autosomal recessive spinocerebellar ataxia 8 skos:exactMatch OMIM:610743 semapv:UnspecifiedMatching -DOID:0111619 combined D-2- and L-2-hydroxyglutaric aciduria oboInOwl:hasDbXref OMIM:615182 semapv:UnspecifiedMatching DOID:0111619 combined D-2- and L-2-hydroxyglutaric aciduria oboInOwl:hasDbXref ORDO:356978 semapv:UnspecifiedMatching DOID:0111619 combined D-2- and L-2-hydroxyglutaric aciduria oboInOwl:hasDbXref UMLS:C5574940 semapv:UnspecifiedMatching -DOID:0111619 combined D-2- and L-2-hydroxyglutaric aciduria skos:exactMatch OMIM:615182 semapv:UnspecifiedMatching DOID:0111620 corneal dystrophy-perceptive deafness syndrome oboInOwl:hasDbXref GARD:1529 semapv:UnspecifiedMatching DOID:0111620 corneal dystrophy-perceptive deafness syndrome oboInOwl:hasDbXref MESH:C535473 semapv:UnspecifiedMatching -DOID:0111620 corneal dystrophy-perceptive deafness syndrome oboInOwl:hasDbXref OMIM:217400 semapv:UnspecifiedMatching DOID:0111620 corneal dystrophy-perceptive deafness syndrome oboInOwl:hasDbXref ORDO:1490 semapv:UnspecifiedMatching DOID:0111620 corneal dystrophy-perceptive deafness syndrome oboInOwl:hasDbXref UMLS:C1857572 semapv:UnspecifiedMatching -DOID:0111620 corneal dystrophy-perceptive deafness syndrome skos:exactMatch OMIM:217400 semapv:UnspecifiedMatching DOID:0111621 Temtamy syndrome oboInOwl:hasDbXref GARD:5688 semapv:UnspecifiedMatching DOID:0111621 Temtamy syndrome oboInOwl:hasDbXref MESH:C536959 semapv:UnspecifiedMatching DOID:0111621 Temtamy syndrome oboInOwl:hasDbXref NCI:C148371 semapv:UnspecifiedMatching -DOID:0111621 Temtamy syndrome oboInOwl:hasDbXref OMIM:218340 semapv:UnspecifiedMatching DOID:0111621 Temtamy syndrome oboInOwl:hasDbXref ORDO:1777 semapv:UnspecifiedMatching DOID:0111621 Temtamy syndrome oboInOwl:hasDbXref UMLS:C1857512 semapv:UnspecifiedMatching -DOID:0111621 Temtamy syndrome skos:exactMatch OMIM:218340 semapv:UnspecifiedMatching DOID:0111622 ACTH-independent macronodular adrenal hyperplasia oboInOwl:hasDbXref GARD:10824 semapv:UnspecifiedMatching DOID:0111622 ACTH-independent macronodular adrenal hyperplasia oboInOwl:hasDbXref ORDO:189427 semapv:UnspecifiedMatching DOID:0111622 ACTH-independent macronodular adrenal hyperplasia oboInOwl:hasDbXref UMLS:C2062388 semapv:UnspecifiedMatching -DOID:0111623 ACTH-independent macronodular adrenal hyperplasia 1 oboInOwl:hasDbXref OMIM:219080 semapv:UnspecifiedMatching -DOID:0111623 ACTH-independent macronodular adrenal hyperplasia 1 skos:exactMatch OMIM:219080 semapv:UnspecifiedMatching -DOID:0111624 ACTH-independent macronodular adrenal hyperplasia 2 oboInOwl:hasDbXref OMIM:615954 semapv:UnspecifiedMatching -DOID:0111624 ACTH-independent macronodular adrenal hyperplasia 2 skos:exactMatch OMIM:615954 semapv:UnspecifiedMatching DOID:0111625 ventriculomegaly - cystic kidney disease oboInOwl:hasDbXref MESH:C565657 semapv:UnspecifiedMatching -DOID:0111625 ventriculomegaly - cystic kidney disease oboInOwl:hasDbXref OMIM:219730 semapv:UnspecifiedMatching DOID:0111625 ventriculomegaly - cystic kidney disease oboInOwl:hasDbXref ORDO:443988 semapv:UnspecifiedMatching DOID:0111625 ventriculomegaly - cystic kidney disease oboInOwl:hasDbXref UMLS:C1857423 semapv:UnspecifiedMatching -DOID:0111625 ventriculomegaly - cystic kidney disease skos:exactMatch OMIM:219730 semapv:UnspecifiedMatching DOID:0111626 D-glyceric aciduria oboInOwl:hasDbXref GARD:234 semapv:UnspecifiedMatching DOID:0111626 D-glyceric aciduria oboInOwl:hasDbXref ICD10CM:E72.59 semapv:UnspecifiedMatching DOID:0111626 D-glyceric aciduria oboInOwl:hasDbXref MESH:C535767 semapv:UnspecifiedMatching -DOID:0111626 D-glyceric aciduria oboInOwl:hasDbXref OMIM:220120 semapv:UnspecifiedMatching DOID:0111626 D-glyceric aciduria oboInOwl:hasDbXref ORDO:941 semapv:UnspecifiedMatching DOID:0111626 D-glyceric aciduria oboInOwl:hasDbXref UMLS:C1291386 semapv:UnspecifiedMatching -DOID:0111626 D-glyceric aciduria skos:exactMatch OMIM:220120 semapv:UnspecifiedMatching DOID:0111627 DOORS syndrome oboInOwl:hasDbXref GARD:1685 semapv:UnspecifiedMatching DOID:0111627 DOORS syndrome oboInOwl:hasDbXref MESH:C538204 semapv:UnspecifiedMatching -DOID:0111627 DOORS syndrome oboInOwl:hasDbXref OMIM:220500 semapv:UnspecifiedMatching DOID:0111627 DOORS syndrome oboInOwl:hasDbXref ORDO:79500 semapv:UnspecifiedMatching DOID:0111627 DOORS syndrome oboInOwl:hasDbXref UMLS:C0795927 semapv:UnspecifiedMatching -DOID:0111627 DOORS syndrome skos:exactMatch OMIM:220500 semapv:UnspecifiedMatching DOID:0111628 high myopia-sensorineural deafness syndrome oboInOwl:hasDbXref GARD:12844 semapv:UnspecifiedMatching -DOID:0111628 high myopia-sensorineural deafness syndrome oboInOwl:hasDbXref OMIM:221200 semapv:UnspecifiedMatching DOID:0111628 high myopia-sensorineural deafness syndrome oboInOwl:hasDbXref ORDO:363396 semapv:UnspecifiedMatching -DOID:0111628 high myopia-sensorineural deafness syndrome skos:exactMatch OMIM:221200 semapv:UnspecifiedMatching DOID:0111629 dihydropyrimidinase deficiency oboInOwl:hasDbXref GARD:12347 semapv:UnspecifiedMatching DOID:0111629 dihydropyrimidinase deficiency oboInOwl:hasDbXref MESH:C562815 semapv:UnspecifiedMatching -DOID:0111629 dihydropyrimidinase deficiency oboInOwl:hasDbXref OMIM:222748 semapv:UnspecifiedMatching DOID:0111629 dihydropyrimidinase deficiency oboInOwl:hasDbXref ORDO:38874 semapv:UnspecifiedMatching DOID:0111629 dihydropyrimidinase deficiency oboInOwl:hasDbXref UMLS:C0342803 semapv:UnspecifiedMatching -DOID:0111629 dihydropyrimidinase deficiency skos:exactMatch OMIM:222748 semapv:UnspecifiedMatching -DOID:0111630 familial erythrocytosis 8 oboInOwl:hasDbXref OMIM:222800 semapv:UnspecifiedMatching DOID:0111630 familial erythrocytosis 8 oboInOwl:hasDbXref ORDO:714 semapv:UnspecifiedMatching -DOID:0111630 familial erythrocytosis 8 skos:exactMatch OMIM:222800 semapv:UnspecifiedMatching -DOID:0111631 familial erythrocytosis 7 oboInOwl:hasDbXref OMIM:617981 semapv:UnspecifiedMatching -DOID:0111631 familial erythrocytosis 7 skos:exactMatch OMIM:617981 semapv:UnspecifiedMatching -DOID:0111632 familial erythrocytosis 6 oboInOwl:hasDbXref OMIM:617980 semapv:UnspecifiedMatching -DOID:0111632 familial erythrocytosis 6 skos:exactMatch OMIM:617980 semapv:UnspecifiedMatching DOID:0111633 congenital sucrase-isomaltase deficiency oboInOwl:hasDbXref GARD:7710 semapv:UnspecifiedMatching DOID:0111633 congenital sucrase-isomaltase deficiency oboInOwl:hasDbXref ICD10CM:E74.31 semapv:UnspecifiedMatching DOID:0111633 congenital sucrase-isomaltase deficiency oboInOwl:hasDbXref MEDDRA:10066387 semapv:UnspecifiedMatching DOID:0111633 congenital sucrase-isomaltase deficiency oboInOwl:hasDbXref MESH:C538139 semapv:UnspecifiedMatching DOID:0111633 congenital sucrase-isomaltase deficiency oboInOwl:hasDbXref NCI:C128190 semapv:UnspecifiedMatching -DOID:0111633 congenital sucrase-isomaltase deficiency oboInOwl:hasDbXref OMIM:222900 semapv:UnspecifiedMatching DOID:0111633 congenital sucrase-isomaltase deficiency oboInOwl:hasDbXref ORDO:35122 semapv:UnspecifiedMatching DOID:0111633 congenital sucrase-isomaltase deficiency oboInOwl:hasDbXref UMLS:C1283620 semapv:UnspecifiedMatching -DOID:0111633 congenital sucrase-isomaltase deficiency skos:exactMatch OMIM:222900 semapv:UnspecifiedMatching -DOID:0111634 autosomal recessive nonsyndromic deafness 99 oboInOwl:hasDbXref OMIM:618481 semapv:UnspecifiedMatching -DOID:0111634 autosomal recessive nonsyndromic deafness 99 skos:exactMatch OMIM:618481 semapv:UnspecifiedMatching -DOID:0111635 autosomal recessive nonsyndromic deafness 57 oboInOwl:hasDbXref OMIM:618003 semapv:UnspecifiedMatching -DOID:0111635 autosomal recessive nonsyndromic deafness 57 skos:exactMatch OMIM:618003 semapv:UnspecifiedMatching -DOID:0111636 autosomal recessive nonsyndromic deafness 113 oboInOwl:hasDbXref OMIM:618410 semapv:UnspecifiedMatching -DOID:0111636 autosomal recessive nonsyndromic deafness 113 skos:exactMatch OMIM:618410 semapv:UnspecifiedMatching -DOID:0111637 autosomal recessive nonsyndromic deafness 112 oboInOwl:hasDbXref OMIM:618257 semapv:UnspecifiedMatching -DOID:0111637 autosomal recessive nonsyndromic deafness 112 skos:exactMatch OMIM:618257 semapv:UnspecifiedMatching -DOID:0111638 autosomal recessive nonsyndromic deafness 100 oboInOwl:hasDbXref OMIM:618422 semapv:UnspecifiedMatching -DOID:0111638 autosomal recessive nonsyndromic deafness 100 skos:exactMatch OMIM:618422 semapv:UnspecifiedMatching -DOID:0111639 autosomal recessive nonsyndromic deafness 109 oboInOwl:hasDbXref OMIM:618013 semapv:UnspecifiedMatching -DOID:0111639 autosomal recessive nonsyndromic deafness 109 skos:exactMatch OMIM:618013 semapv:UnspecifiedMatching -DOID:0111640 autosomal recessive nonsyndromic deafness 111 oboInOwl:hasDbXref OMIM:618145 semapv:UnspecifiedMatching -DOID:0111640 autosomal recessive nonsyndromic deafness 111 skos:exactMatch OMIM:618145 semapv:UnspecifiedMatching -DOID:0111641 autosomal recessive nonsyndromic deafness 94 oboInOwl:hasDbXref OMIM:618434 semapv:UnspecifiedMatching -DOID:0111641 autosomal recessive nonsyndromic deafness 94 skos:exactMatch OMIM:618434 semapv:UnspecifiedMatching -DOID:0111642 autosomal recessive nonsyndromic deafness 114 oboInOwl:hasDbXref OMIM:618456 semapv:UnspecifiedMatching -DOID:0111642 autosomal recessive nonsyndromic deafness 114 skos:exactMatch OMIM:618456 semapv:UnspecifiedMatching -DOID:0111643 autosomal recessive nonsyndromic deafness 115 oboInOwl:hasDbXref OMIM:618457 semapv:UnspecifiedMatching -DOID:0111643 autosomal recessive nonsyndromic deafness 115 skos:exactMatch OMIM:618457 semapv:UnspecifiedMatching -DOID:0111644 autosomal recessive nonsyndromic deafness 110 oboInOwl:hasDbXref OMIM:618094 semapv:UnspecifiedMatching -DOID:0111644 autosomal recessive nonsyndromic deafness 110 skos:exactMatch OMIM:618094 semapv:UnspecifiedMatching -DOID:0111645 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome oboInOwl:hasDbXref OMIM:608105 semapv:UnspecifiedMatching DOID:0111645 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome oboInOwl:hasDbXref ORDO:163727 semapv:UnspecifiedMatching -DOID:0111645 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:exactMatch OMIM:608105 semapv:UnspecifiedMatching DOID:0111646 congenital lactase deficiency oboInOwl:hasDbXref ICD10CM:E73.0 semapv:UnspecifiedMatching DOID:0111646 congenital lactase deficiency oboInOwl:hasDbXref MESH:C562600 semapv:UnspecifiedMatching -DOID:0111646 congenital lactase deficiency oboInOwl:hasDbXref OMIM:223000 semapv:UnspecifiedMatching DOID:0111646 congenital lactase deficiency oboInOwl:hasDbXref ORDO:53690 semapv:UnspecifiedMatching DOID:0111646 congenital lactase deficiency oboInOwl:hasDbXref UMLS:C0268179 semapv:UnspecifiedMatching -DOID:0111646 congenital lactase deficiency skos:exactMatch OMIM:223000 semapv:UnspecifiedMatching DOID:0111647 Schopf-Schulz-Passarge syndrome oboInOwl:hasDbXref MESH:C565607 semapv:UnspecifiedMatching -DOID:0111647 Schopf-Schulz-Passarge syndrome oboInOwl:hasDbXref OMIM:224750 semapv:UnspecifiedMatching DOID:0111647 Schopf-Schulz-Passarge syndrome oboInOwl:hasDbXref ORDO:50944 semapv:UnspecifiedMatching DOID:0111647 Schopf-Schulz-Passarge syndrome oboInOwl:hasDbXref UMLS:C1857069 semapv:UnspecifiedMatching -DOID:0111647 Schopf-Schulz-Passarge syndrome skos:exactMatch OMIM:224750 semapv:UnspecifiedMatching DOID:0111648 ectopia lentis with ectopia of pupil oboInOwl:hasDbXref MESH:C563268 semapv:UnspecifiedMatching -DOID:0111648 ectopia lentis with ectopia of pupil oboInOwl:hasDbXref OMIM:225200 semapv:UnspecifiedMatching DOID:0111648 ectopia lentis with ectopia of pupil oboInOwl:hasDbXref UMLS:C1644196 semapv:UnspecifiedMatching -DOID:0111648 ectopia lentis with ectopia of pupil skos:exactMatch OMIM:225200 semapv:UnspecifiedMatching DOID:0111649 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome oboInOwl:hasDbXref GARD:2078 semapv:UnspecifiedMatching -DOID:0111649 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome oboInOwl:hasDbXref OMIM:225280 semapv:UnspecifiedMatching DOID:0111649 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome oboInOwl:hasDbXref ORDO:1897 semapv:UnspecifiedMatching -DOID:0111649 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome skos:exactMatch OMIM:225280 semapv:UnspecifiedMatching -DOID:0111650 ectodermal dysplasia 13 oboInOwl:hasDbXref OMIM:617392 semapv:UnspecifiedMatching -DOID:0111650 ectodermal dysplasia 13 skos:exactMatch OMIM:617392 semapv:UnspecifiedMatching -DOID:0111651 ectodermal dysplasia 15 oboInOwl:hasDbXref OMIM:618535 semapv:UnspecifiedMatching -DOID:0111651 ectodermal dysplasia 15 skos:exactMatch OMIM:618535 semapv:UnspecifiedMatching -DOID:0111652 ectodermal dysplasia 12 oboInOwl:hasDbXref OMIM:617337 semapv:UnspecifiedMatching -DOID:0111652 ectodermal dysplasia 12 skos:exactMatch OMIM:617337 semapv:UnspecifiedMatching -DOID:0111653 ectodermal dysplasia 11A oboInOwl:hasDbXref OMIM:614940 semapv:UnspecifiedMatching -DOID:0111653 ectodermal dysplasia 11A skos:exactMatch OMIM:614940 semapv:UnspecifiedMatching -DOID:0111654 ectodermal dysplasia 11B oboInOwl:hasDbXref OMIM:614941 semapv:UnspecifiedMatching -DOID:0111654 ectodermal dysplasia 11B skos:exactMatch OMIM:614941 semapv:UnspecifiedMatching DOID:0111655 pure hair and nail ectodermal dysplasia oboInOwl:hasDbXref MESH:C566592 semapv:UnspecifiedMatching DOID:0111655 pure hair and nail ectodermal dysplasia oboInOwl:hasDbXref ORDO:69084 semapv:UnspecifiedMatching DOID:0111655 pure hair and nail ectodermal dysplasia oboInOwl:hasDbXref UMLS:C1865951 semapv:UnspecifiedMatching -DOID:0111656 ectodermal dysplasia 9 oboInOwl:hasDbXref OMIM:614931 semapv:UnspecifiedMatching -DOID:0111656 ectodermal dysplasia 9 skos:exactMatch OMIM:614931 semapv:UnspecifiedMatching -DOID:0111657 ectodermal dysplasia 5 oboInOwl:hasDbXref OMIM:614927 semapv:UnspecifiedMatching -DOID:0111657 ectodermal dysplasia 5 skos:exactMatch OMIM:614927 semapv:UnspecifiedMatching -DOID:0111658 ectodermal dysplasia 4 oboInOwl:hasDbXref OMIM:602032 semapv:UnspecifiedMatching -DOID:0111658 ectodermal dysplasia 4 skos:exactMatch OMIM:602032 semapv:UnspecifiedMatching -DOID:0111659 ectodermal dysplasia 6 oboInOwl:hasDbXref OMIM:614928 semapv:UnspecifiedMatching -DOID:0111659 ectodermal dysplasia 6 skos:exactMatch OMIM:614928 semapv:UnspecifiedMatching -DOID:0111660 ectodermal dysplasia 7 oboInOwl:hasDbXref OMIM:614929 semapv:UnspecifiedMatching -DOID:0111660 ectodermal dysplasia 7 skos:exactMatch OMIM:614929 semapv:UnspecifiedMatching -DOID:0111661 ectodermal dysplasia 8 oboInOwl:hasDbXref OMIM:602401 semapv:UnspecifiedMatching DOID:0111661 ectodermal dysplasia 8 oboInOwl:hasDbXref ORDO:99672 semapv:UnspecifiedMatching DOID:0111661 ectodermal dysplasia 8 oboInOwl:hasDbXref UMLS:C0406715 semapv:UnspecifiedMatching -DOID:0111661 ectodermal dysplasia 8 skos:exactMatch OMIM:602401 semapv:UnspecifiedMatching -DOID:0111662 ectodermal dysplasia 14 oboInOwl:hasDbXref OMIM:618180 semapv:UnspecifiedMatching -DOID:0111662 ectodermal dysplasia 14 skos:exactMatch OMIM:618180 semapv:UnspecifiedMatching -DOID:0111663 ectodermal dysplasia 10A oboInOwl:hasDbXref OMIM:129490 semapv:UnspecifiedMatching -DOID:0111663 ectodermal dysplasia 10A skos:exactMatch OMIM:129490 semapv:UnspecifiedMatching DOID:0111664 ectodermal dysplasia 1 oboInOwl:hasDbXref MESH:D053358 semapv:UnspecifiedMatching DOID:0111664 ectodermal dysplasia 1 oboInOwl:hasDbXref NCI:C84562 semapv:UnspecifiedMatching -DOID:0111664 ectodermal dysplasia 1 oboInOwl:hasDbXref OMIM:305100 semapv:UnspecifiedMatching DOID:0111664 ectodermal dysplasia 1 oboInOwl:hasDbXref ORDO:181 semapv:UnspecifiedMatching DOID:0111664 ectodermal dysplasia 1 oboInOwl:hasDbXref UMLS:C0162359 semapv:UnspecifiedMatching -DOID:0111664 ectodermal dysplasia 1 skos:exactMatch OMIM:305100 semapv:UnspecifiedMatching -DOID:0111665 ectodermal dysplasia 10B oboInOwl:hasDbXref OMIM:224900 semapv:UnspecifiedMatching -DOID:0111665 ectodermal dysplasia 10B skos:exactMatch OMIM:224900 semapv:UnspecifiedMatching DOID:0111666 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome oboInOwl:hasDbXref MEDDRA:10071718 semapv:UnspecifiedMatching DOID:0111666 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome oboInOwl:hasDbXref MESH:C565593 semapv:UnspecifiedMatching -DOID:0111666 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome oboInOwl:hasDbXref OMIM:225790 semapv:UnspecifiedMatching DOID:0111666 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome oboInOwl:hasDbXref ORDO:221126 semapv:UnspecifiedMatching DOID:0111666 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome oboInOwl:hasDbXref UMLS:C1856972 semapv:UnspecifiedMatching -DOID:0111666 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome skos:exactMatch OMIM:225790 semapv:UnspecifiedMatching DOID:0111667 enterokinase deficiency oboInOwl:hasDbXref MESH:C562649 semapv:UnspecifiedMatching -DOID:0111667 enterokinase deficiency oboInOwl:hasDbXref OMIM:226200 semapv:UnspecifiedMatching DOID:0111667 enterokinase deficiency oboInOwl:hasDbXref ORDO:168601 semapv:UnspecifiedMatching DOID:0111667 enterokinase deficiency oboInOwl:hasDbXref UMLS:C0268416 semapv:UnspecifiedMatching -DOID:0111667 enterokinase deficiency skos:exactMatch OMIM:226200 semapv:UnspecifiedMatching DOID:0111668 Kohlschutter-Tonz syndrome oboInOwl:hasDbXref GARD:3128 semapv:UnspecifiedMatching DOID:0111668 Kohlschutter-Tonz syndrome oboInOwl:hasDbXref MESH:C537213 semapv:UnspecifiedMatching -DOID:0111668 Kohlschutter-Tonz syndrome oboInOwl:hasDbXref OMIM:226750 semapv:UnspecifiedMatching DOID:0111668 Kohlschutter-Tonz syndrome oboInOwl:hasDbXref ORDO:1946 semapv:UnspecifiedMatching DOID:0111668 Kohlschutter-Tonz syndrome oboInOwl:hasDbXref UMLS:C0406740 semapv:UnspecifiedMatching -DOID:0111668 Kohlschutter-Tonz syndrome skos:exactMatch OMIM:226750 semapv:UnspecifiedMatching DOID:0111669 hyaline fibromatosis syndrome oboInOwl:hasDbXref MESH:D057770 semapv:UnspecifiedMatching DOID:0111669 hyaline fibromatosis syndrome oboInOwl:hasDbXref NCI:C98297 semapv:UnspecifiedMatching -DOID:0111669 hyaline fibromatosis syndrome oboInOwl:hasDbXref OMIM:228600 semapv:UnspecifiedMatching DOID:0111669 hyaline fibromatosis syndrome oboInOwl:hasDbXref ORDO:498474 semapv:UnspecifiedMatching DOID:0111669 hyaline fibromatosis syndrome oboInOwl:hasDbXref UMLS:C2745948 semapv:UnspecifiedMatching -DOID:0111669 hyaline fibromatosis syndrome skos:exactMatch OMIM:228600 semapv:UnspecifiedMatching DOID:0111670 primary hyperoxaluria type 1 oboInOwl:hasDbXref GARD:2835 semapv:UnspecifiedMatching DOID:0111670 primary hyperoxaluria type 1 oboInOwl:hasDbXref MESH:C536414 semapv:UnspecifiedMatching DOID:0111670 primary hyperoxaluria type 1 oboInOwl:hasDbXref NCI:C123212 semapv:UnspecifiedMatching -DOID:0111670 primary hyperoxaluria type 1 oboInOwl:hasDbXref OMIM:259900 semapv:UnspecifiedMatching DOID:0111670 primary hyperoxaluria type 1 oboInOwl:hasDbXref ORDO:93598 semapv:UnspecifiedMatching DOID:0111670 primary hyperoxaluria type 1 oboInOwl:hasDbXref UMLS:C0268164 semapv:UnspecifiedMatching -DOID:0111670 primary hyperoxaluria type 1 skos:exactMatch OMIM:259900 semapv:UnspecifiedMatching DOID:0111671 primary hyperoxaluria type 2 oboInOwl:hasDbXref GARD:2836 semapv:UnspecifiedMatching DOID:0111671 primary hyperoxaluria type 2 oboInOwl:hasDbXref MESH:C536415 semapv:UnspecifiedMatching DOID:0111671 primary hyperoxaluria type 2 oboInOwl:hasDbXref NCI:C123213 semapv:UnspecifiedMatching -DOID:0111671 primary hyperoxaluria type 2 oboInOwl:hasDbXref OMIM:260000 semapv:UnspecifiedMatching DOID:0111671 primary hyperoxaluria type 2 oboInOwl:hasDbXref ORDO:93599 semapv:UnspecifiedMatching DOID:0111671 primary hyperoxaluria type 2 oboInOwl:hasDbXref UMLS:C0268165 semapv:UnspecifiedMatching -DOID:0111671 primary hyperoxaluria type 2 skos:exactMatch OMIM:260000 semapv:UnspecifiedMatching DOID:0111672 primary hyperoxaluria type 3 oboInOwl:hasDbXref GARD:10738 semapv:UnspecifiedMatching DOID:0111672 primary hyperoxaluria type 3 oboInOwl:hasDbXref NCI:C123214 semapv:UnspecifiedMatching -DOID:0111672 primary hyperoxaluria type 3 oboInOwl:hasDbXref OMIM:613616 semapv:UnspecifiedMatching DOID:0111672 primary hyperoxaluria type 3 oboInOwl:hasDbXref ORDO:93600 semapv:UnspecifiedMatching DOID:0111672 primary hyperoxaluria type 3 oboInOwl:hasDbXref UMLS:C3150878 semapv:UnspecifiedMatching -DOID:0111672 primary hyperoxaluria type 3 skos:exactMatch OMIM:613616 semapv:UnspecifiedMatching -DOID:0111673 Saul-Wilson syndrome oboInOwl:hasDbXref OMIM:618150 semapv:UnspecifiedMatching DOID:0111673 Saul-Wilson syndrome oboInOwl:hasDbXref ORDO:85172 semapv:UnspecifiedMatching DOID:0111673 Saul-Wilson syndrome oboInOwl:hasDbXref UMLS:C1300285 semapv:UnspecifiedMatching -DOID:0111673 Saul-Wilson syndrome skos:exactMatch OMIM:618150 semapv:UnspecifiedMatching -DOID:0111674 intellectual developmental disorder with short stature and behavioral abnormalities oboInOwl:hasDbXref OMIM:618687 semapv:UnspecifiedMatching -DOID:0111674 intellectual developmental disorder with short stature and behavioral abnormalities skos:exactMatch OMIM:618687 semapv:UnspecifiedMatching -DOID:0111675 neurooculocardiogenitourinary syndrome oboInOwl:hasDbXref OMIM:618652 semapv:UnspecifiedMatching -DOID:0111675 neurooculocardiogenitourinary syndrome skos:exactMatch OMIM:618652 semapv:UnspecifiedMatching DOID:0111676 high molecular weight kininogen deficiency oboInOwl:hasDbXref GARD:2684 semapv:UnspecifiedMatching DOID:0111676 high molecular weight kininogen deficiency oboInOwl:hasDbXref MESH:C537060 semapv:UnspecifiedMatching DOID:0111676 high molecular weight kininogen deficiency oboInOwl:hasDbXref NCI:C98946 semapv:UnspecifiedMatching -DOID:0111676 high molecular weight kininogen deficiency oboInOwl:hasDbXref OMIM:228960 semapv:UnspecifiedMatching DOID:0111676 high molecular weight kininogen deficiency oboInOwl:hasDbXref ORDO:483 semapv:UnspecifiedMatching DOID:0111676 high molecular weight kininogen deficiency oboInOwl:hasDbXref UMLS:C0272340 semapv:UnspecifiedMatching -DOID:0111676 high molecular weight kininogen deficiency skos:exactMatch OMIM:228960 semapv:UnspecifiedMatching DOID:0111677 familial benign fleck retina oboInOwl:hasDbXref MESH:C565564 semapv:UnspecifiedMatching -DOID:0111677 familial benign fleck retina oboInOwl:hasDbXref OMIM:228980 semapv:UnspecifiedMatching DOID:0111677 familial benign fleck retina oboInOwl:hasDbXref ORDO:363989 semapv:UnspecifiedMatching DOID:0111677 familial benign fleck retina oboInOwl:hasDbXref UMLS:C1856718 semapv:UnspecifiedMatching -DOID:0111677 familial benign fleck retina skos:exactMatch OMIM:228980 semapv:UnspecifiedMatching DOID:0111678 hereditary folate malabsorption oboInOwl:hasDbXref GARD:12983 semapv:UnspecifiedMatching DOID:0111678 hereditary folate malabsorption oboInOwl:hasDbXref MESH:C562799 semapv:UnspecifiedMatching DOID:0111678 hereditary folate malabsorption oboInOwl:hasDbXref NCI:C156424 semapv:UnspecifiedMatching -DOID:0111678 hereditary folate malabsorption oboInOwl:hasDbXref OMIM:229050 semapv:UnspecifiedMatching DOID:0111678 hereditary folate malabsorption oboInOwl:hasDbXref ORDO:90045 semapv:UnspecifiedMatching DOID:0111678 hereditary folate malabsorption oboInOwl:hasDbXref UMLS:C0342705 semapv:UnspecifiedMatching -DOID:0111678 hereditary folate malabsorption skos:exactMatch OMIM:229050 semapv:UnspecifiedMatching DOID:0111679 glutamate formiminotransferase deficiency oboInOwl:hasDbXref GARD:9279 semapv:UnspecifiedMatching DOID:0111679 glutamate formiminotransferase deficiency oboInOwl:hasDbXref MESH:C537425 semapv:UnspecifiedMatching -DOID:0111679 glutamate formiminotransferase deficiency oboInOwl:hasDbXref OMIM:229100 semapv:UnspecifiedMatching DOID:0111679 glutamate formiminotransferase deficiency oboInOwl:hasDbXref ORDO:51208 semapv:UnspecifiedMatching DOID:0111679 glutamate formiminotransferase deficiency oboInOwl:hasDbXref UMLS:C0268609 semapv:UnspecifiedMatching -DOID:0111679 glutamate formiminotransferase deficiency skos:exactMatch OMIM:229100 semapv:UnspecifiedMatching DOID:0111680 essential fructosuria oboInOwl:hasDbXref ICD10CM:E74.11 semapv:UnspecifiedMatching DOID:0111680 essential fructosuria oboInOwl:hasDbXref MEDDRA:10015487 semapv:UnspecifiedMatching DOID:0111680 essential fructosuria oboInOwl:hasDbXref MESH:C538068 semapv:UnspecifiedMatching -DOID:0111680 essential fructosuria oboInOwl:hasDbXref OMIM:229800 semapv:UnspecifiedMatching DOID:0111680 essential fructosuria oboInOwl:hasDbXref ORDO:2056 semapv:UnspecifiedMatching DOID:0111680 essential fructosuria oboInOwl:hasDbXref UMLS:C0268160 semapv:UnspecifiedMatching -DOID:0111680 essential fructosuria skos:exactMatch OMIM:229800 semapv:UnspecifiedMatching DOID:0111681 glutamate-cysteine ligase deficiency oboInOwl:hasDbXref MESH:C565557 semapv:UnspecifiedMatching -DOID:0111681 glutamate-cysteine ligase deficiency oboInOwl:hasDbXref OMIM:230450 semapv:UnspecifiedMatching DOID:0111681 glutamate-cysteine ligase deficiency oboInOwl:hasDbXref ORDO:33574 semapv:UnspecifiedMatching DOID:0111681 glutamate-cysteine ligase deficiency oboInOwl:hasDbXref UMLS:C1856603 semapv:UnspecifiedMatching -DOID:0111681 glutamate-cysteine ligase deficiency skos:exactMatch OMIM:230450 semapv:UnspecifiedMatching DOID:0111682 diffuse cystic renal dysplasia oboInOwl:hasDbXref GARD:4658 semapv:UnspecifiedMatching -DOID:0111682 diffuse cystic renal dysplasia oboInOwl:hasDbXref OMIM:601331 semapv:UnspecifiedMatching -DOID:0111682 diffuse cystic renal dysplasia skos:exactMatch OMIM:601331 semapv:UnspecifiedMatching DOID:0111683 neurofibromatosis-Noonan syndrome oboInOwl:hasDbXref GARD:372 semapv:UnspecifiedMatching DOID:0111683 neurofibromatosis-Noonan syndrome oboInOwl:hasDbXref MESH:C537393 semapv:UnspecifiedMatching -DOID:0111683 neurofibromatosis-Noonan syndrome oboInOwl:hasDbXref OMIM:601321 semapv:UnspecifiedMatching DOID:0111683 neurofibromatosis-Noonan syndrome oboInOwl:hasDbXref ORDO:638 semapv:UnspecifiedMatching DOID:0111683 neurofibromatosis-Noonan syndrome oboInOwl:hasDbXref UMLS:C2931482 semapv:UnspecifiedMatching DOID:0111683 neurofibromatosis-Noonan syndrome skos:exactMatch GARD:372 semapv:UnspecifiedMatching DOID:0111683 neurofibromatosis-Noonan syndrome skos:exactMatch MESH:C537393 semapv:UnspecifiedMatching -DOID:0111683 neurofibromatosis-Noonan syndrome skos:exactMatch OMIM:601321 semapv:UnspecifiedMatching -DOID:0111683 neurofibromatosis-Noonan syndrome skos:exactMatch OMIM:601321 semapv:UnspecifiedMatching DOID:0111683 neurofibromatosis-Noonan syndrome skos:exactMatch ORDO:638 semapv:UnspecifiedMatching DOID:0111683 neurofibromatosis-Noonan syndrome skos:exactMatch SNOMEDCT_US_2020_03_01:715344006 semapv:UnspecifiedMatching DOID:0111683 neurofibromatosis-Noonan syndrome skos:exactMatch UMLS:C2931482 semapv:UnspecifiedMatching DOID:0111684 hereditary mixed polyposis syndrome oboInOwl:hasDbXref ORDO:157794 semapv:UnspecifiedMatching -DOID:0111685 hereditary mixed polyposis syndrome 1 oboInOwl:hasDbXref OMIM:601228 semapv:UnspecifiedMatching -DOID:0111685 hereditary mixed polyposis syndrome 1 skos:exactMatch OMIM:601228 semapv:UnspecifiedMatching -DOID:0111686 hereditary mixed polyposis syndrome 2 oboInOwl:hasDbXref OMIM:610069 semapv:UnspecifiedMatching -DOID:0111686 hereditary mixed polyposis syndrome 2 skos:exactMatch OMIM:610069 semapv:UnspecifiedMatching DOID:0111687 Potocki-Shaffer syndrome oboInOwl:hasDbXref GARD:9762 semapv:UnspecifiedMatching DOID:0111687 Potocki-Shaffer syndrome oboInOwl:hasDbXref MESH:C538356 semapv:UnspecifiedMatching DOID:0111687 Potocki-Shaffer syndrome oboInOwl:hasDbXref NCI:C75456 semapv:UnspecifiedMatching -DOID:0111687 Potocki-Shaffer syndrome oboInOwl:hasDbXref OMIM:601224 semapv:UnspecifiedMatching DOID:0111687 Potocki-Shaffer syndrome oboInOwl:hasDbXref ORDO:52022 semapv:UnspecifiedMatching DOID:0111687 Potocki-Shaffer syndrome oboInOwl:hasDbXref UMLS:C1832588 semapv:UnspecifiedMatching -DOID:0111687 Potocki-Shaffer syndrome skos:exactMatch OMIM:601224 semapv:UnspecifiedMatching DOID:0111688 Ayme-Gripp syndrome oboInOwl:hasDbXref MESH:C563390 semapv:UnspecifiedMatching -DOID:0111688 Ayme-Gripp syndrome oboInOwl:hasDbXref OMIM:601088 semapv:UnspecifiedMatching DOID:0111688 Ayme-Gripp syndrome oboInOwl:hasDbXref UMLS:C1832812 semapv:UnspecifiedMatching -DOID:0111688 Ayme-Gripp syndrome skos:exactMatch OMIM:601088 semapv:UnspecifiedMatching -DOID:0111689 familial adult myoclonic epilepsy oboInOwl:hasDbXref OMIMPS:601068 semapv:UnspecifiedMatching DOID:0111689 familial adult myoclonic epilepsy oboInOwl:hasDbXref ORDO:86814 semapv:UnspecifiedMatching DOID:0111689 familial adult myoclonic epilepsy oboInOwl:hasDbXref UMLS:C4273988 semapv:UnspecifiedMatching -DOID:0111689 familial adult myoclonic epilepsy skos:exactMatch OMIMPS:601068 semapv:UnspecifiedMatching -DOID:0111690 familial adult myoclonic epilepsy 1 oboInOwl:hasDbXref OMIM:601068 semapv:UnspecifiedMatching -DOID:0111690 familial adult myoclonic epilepsy 1 skos:exactMatch OMIM:601068 semapv:UnspecifiedMatching -DOID:0111691 familial adult myoclonic epilepsy 5 oboInOwl:hasDbXref OMIM:615400 semapv:UnspecifiedMatching -DOID:0111691 familial adult myoclonic epilepsy 5 skos:exactMatch OMIM:615400 semapv:UnspecifiedMatching -DOID:0111692 familial adult myoclonic epilepsy 2 oboInOwl:hasDbXref OMIM:607876 semapv:UnspecifiedMatching -DOID:0111692 familial adult myoclonic epilepsy 2 skos:exactMatch OMIM:607876 semapv:UnspecifiedMatching -DOID:0111693 familial adult myoclonic epilepsy 4 oboInOwl:hasDbXref OMIM:615127 semapv:UnspecifiedMatching -DOID:0111693 familial adult myoclonic epilepsy 4 skos:exactMatch OMIM:615127 semapv:UnspecifiedMatching -DOID:0111694 familial adult myoclonic epilepsy 7 oboInOwl:hasDbXref OMIM:618075 semapv:UnspecifiedMatching -DOID:0111694 familial adult myoclonic epilepsy 7 skos:exactMatch OMIM:618075 semapv:UnspecifiedMatching -DOID:0111695 familial adult myoclonic epilepsy 3 oboInOwl:hasDbXref OMIM:613608 semapv:UnspecifiedMatching -DOID:0111695 familial adult myoclonic epilepsy 3 skos:exactMatch OMIM:613608 semapv:UnspecifiedMatching -DOID:0111696 familial adult myoclonic epilepsy 6 oboInOwl:hasDbXref OMIM:618074 semapv:UnspecifiedMatching -DOID:0111696 familial adult myoclonic epilepsy 6 skos:exactMatch OMIM:618074 semapv:UnspecifiedMatching DOID:0111697 cleft palate, cardiac defects, and intellectual disabillity oboInOwl:hasDbXref MESH:C563414 semapv:UnspecifiedMatching -DOID:0111697 cleft palate, cardiac defects, and intellectual disabillity oboInOwl:hasDbXref OMIM:600987 semapv:UnspecifiedMatching DOID:0111697 cleft palate, cardiac defects, and intellectual disabillity oboInOwl:hasDbXref UMLS:C1832950 semapv:UnspecifiedMatching -DOID:0111697 cleft palate, cardiac defects, and intellectual disabillity skos:exactMatch OMIM:600987 semapv:UnspecifiedMatching DOID:0111698 proprotein convertase 1/3 deficiency oboInOwl:hasDbXref MESH:C563423 semapv:UnspecifiedMatching -DOID:0111698 proprotein convertase 1/3 deficiency oboInOwl:hasDbXref OMIM:600955 semapv:UnspecifiedMatching DOID:0111698 proprotein convertase 1/3 deficiency oboInOwl:hasDbXref ORDO:71528 semapv:UnspecifiedMatching DOID:0111698 proprotein convertase 1/3 deficiency oboInOwl:hasDbXref UMLS:C1833053 semapv:UnspecifiedMatching -DOID:0111698 proprotein convertase 1/3 deficiency skos:exactMatch OMIM:600955 semapv:UnspecifiedMatching DOID:0111699 Van den Ende-Gupta syndrome oboInOwl:hasDbXref GARD:3382 semapv:UnspecifiedMatching DOID:0111699 Van den Ende-Gupta syndrome oboInOwl:hasDbXref MESH:C535909 semapv:UnspecifiedMatching -DOID:0111699 Van den Ende-Gupta syndrome oboInOwl:hasDbXref OMIM:600920 semapv:UnspecifiedMatching DOID:0111699 Van den Ende-Gupta syndrome oboInOwl:hasDbXref ORDO:2460 semapv:UnspecifiedMatching DOID:0111699 Van den Ende-Gupta syndrome oboInOwl:hasDbXref UMLS:C1833136 semapv:UnspecifiedMatching -DOID:0111699 Van den Ende-Gupta syndrome skos:exactMatch OMIM:600920 semapv:UnspecifiedMatching DOID:0111700 ankyrin-B-related cardiac arrhythmia oboInOwl:hasDbXref GARD:13294 semapv:UnspecifiedMatching -DOID:0111700 ankyrin-B-related cardiac arrhythmia oboInOwl:hasDbXref OMIM:600919 semapv:UnspecifiedMatching -DOID:0111700 ankyrin-B-related cardiac arrhythmia skos:exactMatch OMIM:600919 semapv:UnspecifiedMatching DOID:0111701 long QT syndrome 4 oboInOwl:hasDbXref GARD:10432 semapv:UnspecifiedMatching DOID:0111701 long QT syndrome 4 oboInOwl:hasDbXref MESH:C563428 semapv:UnspecifiedMatching DOID:0111702 loose anagen hair syndrome oboInOwl:hasDbXref GARD:3287 semapv:UnspecifiedMatching DOID:0111702 loose anagen hair syndrome oboInOwl:hasDbXref MESH:D058247 semapv:UnspecifiedMatching -DOID:0111702 loose anagen hair syndrome oboInOwl:hasDbXref OMIM:600628 semapv:UnspecifiedMatching DOID:0111702 loose anagen hair syndrome oboInOwl:hasDbXref ORDO:168 semapv:UnspecifiedMatching DOID:0111702 loose anagen hair syndrome oboInOwl:hasDbXref UMLS:C0406468 semapv:UnspecifiedMatching -DOID:0111702 loose anagen hair syndrome skos:exactMatch OMIM:600628 semapv:UnspecifiedMatching DOID:0111703 familial hypertryptophanemia oboInOwl:hasDbXref GARD:2871 semapv:UnspecifiedMatching DOID:0111703 familial hypertryptophanemia oboInOwl:hasDbXref MESH:C563467 semapv:UnspecifiedMatching -DOID:0111703 familial hypertryptophanemia oboInOwl:hasDbXref OMIM:600627 semapv:UnspecifiedMatching DOID:0111703 familial hypertryptophanemia oboInOwl:hasDbXref ORDO:2224 semapv:UnspecifiedMatching DOID:0111703 familial hypertryptophanemia oboInOwl:hasDbXref UMLS:C2931837 semapv:UnspecifiedMatching -DOID:0111703 familial hypertryptophanemia skos:exactMatch OMIM:600627 semapv:UnspecifiedMatching DOID:0111704 chromosome 2q37 deletion syndrome oboInOwl:hasDbXref MESH:C538317 semapv:UnspecifiedMatching DOID:0111704 chromosome 2q37 deletion syndrome oboInOwl:hasDbXref NCI:C129021 semapv:UnspecifiedMatching -DOID:0111704 chromosome 2q37 deletion syndrome oboInOwl:hasDbXref OMIM:600430 semapv:UnspecifiedMatching DOID:0111704 chromosome 2q37 deletion syndrome oboInOwl:hasDbXref ORDO:1001 semapv:UnspecifiedMatching DOID:0111704 chromosome 2q37 deletion syndrome oboInOwl:hasDbXref UMLS:C2931817 semapv:UnspecifiedMatching -DOID:0111704 chromosome 2q37 deletion syndrome skos:exactMatch OMIM:600430 semapv:UnspecifiedMatching DOID:0111705 oculoectodermal syndrome oboInOwl:hasDbXref GARD:10366 semapv:UnspecifiedMatching DOID:0111705 oculoectodermal syndrome oboInOwl:hasDbXref MESH:C563969 semapv:UnspecifiedMatching -DOID:0111705 oculoectodermal syndrome oboInOwl:hasDbXref OMIM:600268 semapv:UnspecifiedMatching DOID:0111705 oculoectodermal syndrome oboInOwl:hasDbXref ORDO:3339 semapv:UnspecifiedMatching DOID:0111705 oculoectodermal syndrome oboInOwl:hasDbXref UMLS:C1838329 semapv:UnspecifiedMatching -DOID:0111705 oculoectodermal syndrome skos:exactMatch OMIM:600268 semapv:UnspecifiedMatching -DOID:0111706 oblique facial clefting 1 oboInOwl:hasDbXref OMIM:600251 semapv:UnspecifiedMatching -DOID:0111706 oblique facial clefting 1 skos:exactMatch OMIM:600251 semapv:UnspecifiedMatching DOID:0111707 Bothnian type palmoplantar keratoderma oboInOwl:hasDbXref GARD:1862 semapv:UnspecifiedMatching -DOID:0111707 Bothnian type palmoplantar keratoderma oboInOwl:hasDbXref OMIM:600231 semapv:UnspecifiedMatching -DOID:0111707 Bothnian type palmoplantar keratoderma skos:exactMatch OMIM:600231 semapv:UnspecifiedMatching DOID:0111708 focal nonepidermolytic palmoplantar keratoderma oboInOwl:hasDbXref MESH:C538682 semapv:UnspecifiedMatching DOID:0111708 focal nonepidermolytic palmoplantar keratoderma oboInOwl:hasDbXref ORDO:448264 semapv:UnspecifiedMatching DOID:0111708 focal nonepidermolytic palmoplantar keratoderma oboInOwl:hasDbXref UMLS:C2931923 semapv:UnspecifiedMatching -DOID:0111709 focal nonepidermolytic palmoplantar keratoderma 1 oboInOwl:hasDbXref OMIM:613000 semapv:UnspecifiedMatching -DOID:0111709 focal nonepidermolytic palmoplantar keratoderma 1 skos:exactMatch OMIM:613000 semapv:UnspecifiedMatching -DOID:0111710 focal or diffuse nonepidermolytic palmoplantar keratoderma oboInOwl:hasDbXref OMIM:615735 semapv:UnspecifiedMatching DOID:0111710 focal or diffuse nonepidermolytic palmoplantar keratoderma oboInOwl:hasDbXref ORDO:402003 semapv:UnspecifiedMatching -DOID:0111710 focal or diffuse nonepidermolytic palmoplantar keratoderma skos:exactMatch OMIM:615735 semapv:UnspecifiedMatching -DOID:0111711 focal nonepidermolytic palmoplantar keratoderma 2 oboInOwl:hasDbXref OMIM:616400 semapv:UnspecifiedMatching -DOID:0111711 focal nonepidermolytic palmoplantar keratoderma 2 skos:exactMatch OMIM:616400 semapv:UnspecifiedMatching -DOID:0111712 Kagami-Ogata syndrome oboInOwl:hasDbXref OMIM:608149 semapv:UnspecifiedMatching DOID:0111712 Kagami-Ogata syndrome oboInOwl:hasDbXref ORDO:254519 semapv:UnspecifiedMatching -DOID:0111712 Kagami-Ogata syndrome skos:exactMatch OMIM:608149 semapv:UnspecifiedMatching DOID:0111713 Temple syndrome oboInOwl:hasDbXref NCI:C120409 semapv:UnspecifiedMatching -DOID:0111713 Temple syndrome oboInOwl:hasDbXref OMIM:616222 semapv:UnspecifiedMatching DOID:0111713 Temple syndrome oboInOwl:hasDbXref ORDO:254516 semapv:UnspecifiedMatching DOID:0111713 Temple syndrome oboInOwl:hasDbXref UMLS:C4015558 semapv:UnspecifiedMatching -DOID:0111713 Temple syndrome skos:exactMatch OMIM:616222 semapv:UnspecifiedMatching -DOID:0111714 Mulchandani-Bhoj-Conlin syndrome oboInOwl:hasDbXref OMIM:617352 semapv:UnspecifiedMatching DOID:0111714 Mulchandani-Bhoj-Conlin syndrome oboInOwl:hasDbXref ORDO:96186 semapv:UnspecifiedMatching DOID:0111714 Mulchandani-Bhoj-Conlin syndrome oboInOwl:hasDbXref UMLS:C4275029 semapv:UnspecifiedMatching -DOID:0111714 Mulchandani-Bhoj-Conlin syndrome skos:exactMatch OMIM:617352 semapv:UnspecifiedMatching DOID:0111715 Schaaf-Yang syndrome oboInOwl:hasDbXref GARD:13316 semapv:UnspecifiedMatching -DOID:0111715 Schaaf-Yang syndrome oboInOwl:hasDbXref OMIM:615547 semapv:UnspecifiedMatching DOID:0111715 Schaaf-Yang syndrome oboInOwl:hasDbXref ORDO:398069 semapv:UnspecifiedMatching DOID:0111715 Schaaf-Yang syndrome oboInOwl:hasDbXref UMLS:C3809877 semapv:UnspecifiedMatching -DOID:0111715 Schaaf-Yang syndrome skos:exactMatch OMIM:615547 semapv:UnspecifiedMatching DOID:0111716 cryptophthalmia oboInOwl:hasDbXref ICD10CM:Q11.2 semapv:UnspecifiedMatching DOID:0111716 cryptophthalmia oboInOwl:hasDbXref ICD9CM:743.06 semapv:UnspecifiedMatching DOID:0111716 cryptophthalmia oboInOwl:hasDbXref NCI:C124520 semapv:UnspecifiedMatching DOID:0111716 cryptophthalmia oboInOwl:hasDbXref ORDO:98562 semapv:UnspecifiedMatching DOID:0111716 cryptophthalmia oboInOwl:hasDbXref UMLS:C0311249 semapv:UnspecifiedMatching DOID:0111717 isolated cryptophthalmia oboInOwl:hasDbXref MESH:C565138 semapv:UnspecifiedMatching -DOID:0111717 isolated cryptophthalmia oboInOwl:hasDbXref OMIM:123570 semapv:UnspecifiedMatching DOID:0111717 isolated cryptophthalmia oboInOwl:hasDbXref ORDO:91396 semapv:UnspecifiedMatching DOID:0111717 isolated cryptophthalmia oboInOwl:hasDbXref UMLS:C1852453 semapv:UnspecifiedMatching -DOID:0111717 isolated cryptophthalmia skos:exactMatch OMIM:123570 semapv:UnspecifiedMatching DOID:0111718 partial cryptophthalmia oboInOwl:hasDbXref ORDO:98950 semapv:UnspecifiedMatching DOID:0111719 complete cryptophthalmia oboInOwl:hasDbXref ORDO:98949 semapv:UnspecifiedMatching DOID:0111720 congenital symblepharon oboInOwl:hasDbXref ORDO:98948 semapv:UnspecifiedMatching DOID:0111721 amelogenesis imperfecta type 3 oboInOwl:hasDbXref MESH:C562880 semapv:UnspecifiedMatching DOID:0111721 amelogenesis imperfecta type 3 oboInOwl:hasDbXref ORDO:100032 semapv:UnspecifiedMatching DOID:0111721 amelogenesis imperfecta type 3 oboInOwl:hasDbXref UMLS:C0399376 semapv:UnspecifiedMatching -DOID:0111722 amelogenesis imperfecta type 3C oboInOwl:hasDbXref OMIM:618386 semapv:UnspecifiedMatching -DOID:0111722 amelogenesis imperfecta type 3C skos:exactMatch OMIM:618386 semapv:UnspecifiedMatching DOID:0111723 Jacobsen Syndrome oboInOwl:hasDbXref GARD:307 semapv:UnspecifiedMatching DOID:0111723 Jacobsen Syndrome oboInOwl:hasDbXref MESH:D054868 semapv:UnspecifiedMatching -DOID:0111723 Jacobsen Syndrome oboInOwl:hasDbXref OMIM:147791 semapv:UnspecifiedMatching DOID:0111723 Jacobsen Syndrome oboInOwl:hasDbXref ORDO:2308 semapv:UnspecifiedMatching -DOID:0111723 Jacobsen Syndrome skos:exactMatch OMIM:147791 semapv:UnspecifiedMatching DOID:0111724 geleophysic dysplasia oboInOwl:hasDbXref GARD:2449 semapv:UnspecifiedMatching DOID:0111724 geleophysic dysplasia oboInOwl:hasDbXref MEDDRA:10063361 semapv:UnspecifiedMatching -DOID:0111724 geleophysic dysplasia oboInOwl:hasDbXref OMIMPS:231050 semapv:UnspecifiedMatching DOID:0111724 geleophysic dysplasia oboInOwl:hasDbXref ORDO:2623 semapv:UnspecifiedMatching DOID:0111724 geleophysic dysplasia oboInOwl:hasDbXref UMLS:C3489726 semapv:UnspecifiedMatching -DOID:0111724 geleophysic dysplasia skos:exactMatch OMIMPS:231050 semapv:UnspecifiedMatching -DOID:0111725 geleophysic dysplasia 1 oboInOwl:hasDbXref OMIM:231050 semapv:UnspecifiedMatching -DOID:0111725 geleophysic dysplasia 1 skos:exactMatch OMIM:231050 semapv:UnspecifiedMatching -DOID:0111726 geleophysic dysplasia 2 oboInOwl:hasDbXref OMIM:614185 semapv:UnspecifiedMatching -DOID:0111726 geleophysic dysplasia 2 skos:exactMatch OMIM:614185 semapv:UnspecifiedMatching -DOID:0111727 geleophysic dysplasia 3 oboInOwl:hasDbXref OMIM:617809 semapv:UnspecifiedMatching -DOID:0111727 geleophysic dysplasia 3 skos:exactMatch OMIM:617809 semapv:UnspecifiedMatching DOID:0111728 familial episodic pain syndrome oboInOwl:hasDbXref GARD:12684 semapv:UnspecifiedMatching -DOID:0111728 familial episodic pain syndrome oboInOwl:hasDbXref OMIMPS:615040 semapv:UnspecifiedMatching DOID:0111728 familial episodic pain syndrome oboInOwl:hasDbXref ORDO:391384 semapv:UnspecifiedMatching -DOID:0111728 familial episodic pain syndrome skos:exactMatch OMIMPS:615040 semapv:UnspecifiedMatching -DOID:0111729 familial episodic pain syndrome 1 oboInOwl:hasDbXref OMIM:615040 semapv:UnspecifiedMatching DOID:0111729 familial episodic pain syndrome 1 oboInOwl:hasDbXref ORDO:391389 semapv:UnspecifiedMatching -DOID:0111729 familial episodic pain syndrome 1 skos:exactMatch OMIM:615040 semapv:UnspecifiedMatching -DOID:0111730 familial episodic pain syndrome 2 oboInOwl:hasDbXref OMIM:615551 semapv:UnspecifiedMatching -DOID:0111730 familial episodic pain syndrome 2 skos:exactMatch OMIM:615551 semapv:UnspecifiedMatching DOID:0111731 familial episodic pain syndrome 3 oboInOwl:hasDbXref NCI:C125390 semapv:UnspecifiedMatching -DOID:0111731 familial episodic pain syndrome 3 oboInOwl:hasDbXref OMIM:615552 semapv:UnspecifiedMatching DOID:0111731 familial episodic pain syndrome 3 oboInOwl:hasDbXref ORDO:391392 semapv:UnspecifiedMatching -DOID:0111731 familial episodic pain syndrome 3 skos:exactMatch OMIM:615552 semapv:UnspecifiedMatching DOID:0111732 Eiken syndrome oboInOwl:hasDbXref MESH:C564010 semapv:UnspecifiedMatching -DOID:0111732 Eiken syndrome oboInOwl:hasDbXref OMIM:600002 semapv:UnspecifiedMatching DOID:0111732 Eiken syndrome oboInOwl:hasDbXref ORDO:79106 semapv:UnspecifiedMatching DOID:0111732 Eiken syndrome oboInOwl:hasDbXref UMLS:C1838779 semapv:UnspecifiedMatching -DOID:0111732 Eiken syndrome skos:exactMatch OMIM:600002 semapv:UnspecifiedMatching -DOID:0111733 pancreatic hypoplasia-diabetes-congenital heart disease syndrome oboInOwl:hasDbXref OMIM:600001 semapv:UnspecifiedMatching -DOID:0111733 pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:exactMatch OMIM:600001 semapv:UnspecifiedMatching -DOID:0111734 aminoglycoside-induced deafness oboInOwl:hasDbXref OMIM:580000 semapv:UnspecifiedMatching -DOID:0111734 aminoglycoside-induced deafness skos:exactMatch OMIM:580000 semapv:UnspecifiedMatching -DOID:0111735 X-linked deafness 4 oboInOwl:hasDbXref OMIM:300066 semapv:UnspecifiedMatching -DOID:0111735 X-linked deafness 4 skos:exactMatch OMIM:300066 semapv:UnspecifiedMatching -DOID:0111736 X-linked deafness 3 oboInOwl:hasDbXref OMIM:300030 semapv:UnspecifiedMatching -DOID:0111736 X-linked deafness 3 skos:exactMatch OMIM:300030 semapv:UnspecifiedMatching -DOID:0111737 X-linked deafness 2 oboInOwl:hasDbXref OMIM:304400 semapv:UnspecifiedMatching DOID:0111737 X-linked deafness 2 oboInOwl:hasDbXref ORDO:383 semapv:UnspecifiedMatching -DOID:0111737 X-linked deafness 2 skos:exactMatch OMIM:304400 semapv:UnspecifiedMatching -DOID:0111738 X-linked deafness 7 oboInOwl:hasDbXref OMIM:301018 semapv:UnspecifiedMatching DOID:0111738 X-linked deafness 7 oboInOwl:hasDbXref ORDO:500188 semapv:UnspecifiedMatching -DOID:0111738 X-linked deafness 7 skos:exactMatch OMIM:301018 semapv:UnspecifiedMatching -DOID:0111739 X-linked deafness 1 oboInOwl:hasDbXref OMIM:304500 semapv:UnspecifiedMatching -DOID:0111739 X-linked deafness 1 skos:exactMatch OMIM:304500 semapv:UnspecifiedMatching -DOID:0111740 X-linked deafness 6 oboInOwl:hasDbXref OMIM:300914 semapv:UnspecifiedMatching -DOID:0111740 X-linked deafness 6 skos:exactMatch OMIM:300914 semapv:UnspecifiedMatching -DOID:0111741 X-linked deafness 5 oboInOwl:hasDbXref OMIM:300614 semapv:UnspecifiedMatching DOID:0111741 X-linked deafness 5 oboInOwl:hasDbXref ORDO:139583 semapv:UnspecifiedMatching -DOID:0111741 X-linked deafness 5 skos:exactMatch OMIM:300614 semapv:UnspecifiedMatching -DOID:0111742 cerebellar ataxia type 42 oboInOwl:hasDbXref OMIM:616795 semapv:UnspecifiedMatching DOID:0111742 cerebellar ataxia type 42 oboInOwl:hasDbXref ORDO:458803 semapv:UnspecifiedMatching -DOID:0111742 cerebellar ataxia type 42 skos:exactMatch OMIM:616795 semapv:UnspecifiedMatching -DOID:0111743 cerebellar ataxia type 47 oboInOwl:hasDbXref OMIM:617931 semapv:UnspecifiedMatching -DOID:0111743 cerebellar ataxia type 47 skos:exactMatch OMIM:617931 semapv:UnspecifiedMatching -DOID:0111744 cerebellar ataxia type 41 oboInOwl:hasDbXref OMIM:616410 semapv:UnspecifiedMatching DOID:0111744 cerebellar ataxia type 41 oboInOwl:hasDbXref ORDO:458798 semapv:UnspecifiedMatching -DOID:0111744 cerebellar ataxia type 41 skos:exactMatch OMIM:616410 semapv:UnspecifiedMatching -DOID:0111745 cerebellar ataxia type 43 oboInOwl:hasDbXref OMIM:617018 semapv:UnspecifiedMatching DOID:0111745 cerebellar ataxia type 43 oboInOwl:hasDbXref ORDO:497764 semapv:UnspecifiedMatching -DOID:0111745 cerebellar ataxia type 43 skos:exactMatch OMIM:617018 semapv:UnspecifiedMatching -DOID:0111746 cerebellar ataxia type 48 oboInOwl:hasDbXref OMIM:618093 semapv:UnspecifiedMatching -DOID:0111746 cerebellar ataxia type 48 skos:exactMatch OMIM:618093 semapv:UnspecifiedMatching DOID:0111747 cerebellar ataxia type 9 oboInOwl:hasDbXref GARD:10481 semapv:UnspecifiedMatching -DOID:0111747 cerebellar ataxia type 9 oboInOwl:hasDbXref OMIM:612876 semapv:UnspecifiedMatching -DOID:0111747 cerebellar ataxia type 9 skos:exactMatch OMIM:612876 semapv:UnspecifiedMatching -DOID:0111748 mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1 oboInOwl:hasDbXref OMIM:500015 semapv:UnspecifiedMatching -DOID:0111748 mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1 skos:exactMatch OMIM:500015 semapv:UnspecifiedMatching -DOID:0111749 mitochondrial complex V (ATP synthase) deficiency nuclear type 6 oboInOwl:hasDbXref OMIM:618683 semapv:UnspecifiedMatching -DOID:0111749 mitochondrial complex V (ATP synthase) deficiency nuclear type 6 skos:exactMatch OMIM:618683 semapv:UnspecifiedMatching -DOID:0111750 adult-onset ataxia and polyneuropathy oboInOwl:hasDbXref OMIM:500010 semapv:UnspecifiedMatching -DOID:0111750 adult-onset ataxia and polyneuropathy skos:exactMatch OMIM:500010 semapv:UnspecifiedMatching -DOID:0111751 mitochondrial nonsyndromic sensorineural deafness oboInOwl:hasDbXref OMIM:500008 semapv:UnspecifiedMatching -DOID:0111751 mitochondrial nonsyndromic sensorineural deafness skos:exactMatch OMIM:500008 semapv:UnspecifiedMatching -DOID:0111752 autosomal-mitochondrial sensorineural deafness oboInOwl:hasDbXref OMIM:221745 semapv:UnspecifiedMatching -DOID:0111752 autosomal-mitochondrial sensorineural deafness skos:exactMatch OMIM:221745 semapv:UnspecifiedMatching -DOID:0111753 infantile hypertrophic cardiomyopathy oboInOwl:hasDbXref OMIM:500006 semapv:UnspecifiedMatching -DOID:0111753 infantile hypertrophic cardiomyopathy skos:exactMatch OMIM:500006 semapv:UnspecifiedMatching DOID:0111754 Leber plus disease oboInOwl:hasDbXref ORDO:99718 semapv:UnspecifiedMatching -DOID:0111755 Leber hereditary optic neuropathy and dystonia oboInOwl:hasDbXref OMIM:500001 semapv:UnspecifiedMatching -DOID:0111755 Leber hereditary optic neuropathy and dystonia skos:exactMatch OMIM:500001 semapv:UnspecifiedMatching -DOID:0111756 Leber hereditary optic neuropathy with demyelinating disease of CNS oboInOwl:hasDbXref OMIM:165200 semapv:UnspecifiedMatching -DOID:0111756 Leber hereditary optic neuropathy with demyelinating disease of CNS skos:exactMatch OMIM:165200 semapv:UnspecifiedMatching -DOID:0111757 Y-linked deafness oboInOwl:hasDbXref OMIMPS:400043 semapv:UnspecifiedMatching -DOID:0111757 Y-linked deafness skos:exactMatch OMIMPS:400043 semapv:UnspecifiedMatching -DOID:0111758 Y-linked deafness 2 oboInOwl:hasDbXref OMIM:400047 semapv:UnspecifiedMatching -DOID:0111758 Y-linked deafness 2 skos:exactMatch OMIM:400047 semapv:UnspecifiedMatching -DOID:0111759 Y-linked deafness 1 oboInOwl:hasDbXref OMIM:400043 semapv:UnspecifiedMatching -DOID:0111759 Y-linked deafness 1 skos:exactMatch OMIM:400043 semapv:UnspecifiedMatching DOID:0111760 46,XX sex reversal oboInOwl:hasDbXref GARD:399 semapv:UnspecifiedMatching DOID:0111760 46,XX sex reversal oboInOwl:hasDbXref MESH:D058531 semapv:UnspecifiedMatching DOID:0111760 46,XX sex reversal oboInOwl:hasDbXref ORDO:393 semapv:UnspecifiedMatching -DOID:0111761 46,XX sex reversal 1 oboInOwl:hasDbXref OMIM:400045 semapv:UnspecifiedMatching -DOID:0111761 46,XX sex reversal 1 skos:exactMatch OMIM:400045 semapv:UnspecifiedMatching -DOID:0111762 46,XX sex reversal 3 oboInOwl:hasDbXref OMIM:300833 semapv:UnspecifiedMatching -DOID:0111762 46,XX sex reversal 3 skos:exactMatch OMIM:300833 semapv:UnspecifiedMatching -DOID:0111763 46,XX sex reversal 2 oboInOwl:hasDbXref OMIM:278850 semapv:UnspecifiedMatching -DOID:0111763 46,XX sex reversal 2 skos:exactMatch OMIM:278850 semapv:UnspecifiedMatching -DOID:0111764 46,XX sex reversal 4 oboInOwl:hasDbXref OMIM:617480 semapv:UnspecifiedMatching -DOID:0111764 46,XX sex reversal 4 skos:exactMatch OMIM:617480 semapv:UnspecifiedMatching DOID:0111765 X-linked cardiac valvular dysplasia oboInOwl:hasDbXref MESH:C536197 semapv:UnspecifiedMatching DOID:0111765 X-linked cardiac valvular dysplasia oboInOwl:hasDbXref NCI:C141423 semapv:UnspecifiedMatching -DOID:0111765 X-linked cardiac valvular dysplasia oboInOwl:hasDbXref OMIM:314400 semapv:UnspecifiedMatching DOID:0111765 X-linked cardiac valvular dysplasia oboInOwl:hasDbXref ORDO:555877 semapv:UnspecifiedMatching DOID:0111765 X-linked cardiac valvular dysplasia oboInOwl:hasDbXref UMLS:C0268341 semapv:UnspecifiedMatching -DOID:0111765 X-linked cardiac valvular dysplasia skos:exactMatch OMIM:314400 semapv:UnspecifiedMatching DOID:0111766 X-linked VACTERL association oboInOwl:hasDbXref GARD:8498 semapv:UnspecifiedMatching -DOID:0111766 X-linked VACTERL association oboInOwl:hasDbXref OMIM:314390 semapv:UnspecifiedMatching -DOID:0111766 X-linked VACTERL association skos:exactMatch OMIM:314390 semapv:UnspecifiedMatching DOID:0111767 X-linked thrombocytopenia with beta-thalassemia oboInOwl:hasDbXref MESH:C564050 semapv:UnspecifiedMatching DOID:0111767 X-linked thrombocytopenia with beta-thalassemia oboInOwl:hasDbXref NCI:C134941 semapv:UnspecifiedMatching -DOID:0111767 X-linked thrombocytopenia with beta-thalassemia oboInOwl:hasDbXref OMIM:314050 semapv:UnspecifiedMatching DOID:0111767 X-linked thrombocytopenia with beta-thalassemia oboInOwl:hasDbXref ORDO:231393 semapv:UnspecifiedMatching DOID:0111767 X-linked thrombocytopenia with beta-thalassemia oboInOwl:hasDbXref UMLS:C1839161 semapv:UnspecifiedMatching -DOID:0111767 X-linked thrombocytopenia with beta-thalassemia skos:exactMatch OMIM:314050 semapv:UnspecifiedMatching DOID:0111768 X-linked properdin deficiency oboInOwl:hasDbXref GARD:9913 semapv:UnspecifiedMatching DOID:0111768 X-linked properdin deficiency oboInOwl:hasDbXref MESH:C537241 semapv:UnspecifiedMatching -DOID:0111768 X-linked properdin deficiency oboInOwl:hasDbXref OMIM:312060 semapv:UnspecifiedMatching DOID:0111768 X-linked properdin deficiency oboInOwl:hasDbXref ORDO:2966 semapv:UnspecifiedMatching DOID:0111768 X-linked properdin deficiency oboInOwl:hasDbXref UMLS:C0398762 semapv:UnspecifiedMatching DOID:0111768 X-linked properdin deficiency oboInOwl:hasDbXref UMLS:C1839454 semapv:UnspecifiedMatching -DOID:0111768 X-linked properdin deficiency skos:exactMatch OMIM:312060 semapv:UnspecifiedMatching -DOID:0111769 46,XY sex reversal 6 oboInOwl:hasDbXref OMIM:613762 semapv:UnspecifiedMatching -DOID:0111769 46,XY sex reversal 6 skos:exactMatch OMIM:613762 semapv:UnspecifiedMatching -DOID:0111770 46,XY sex reversal 9 oboInOwl:hasDbXref OMIM:616067 semapv:UnspecifiedMatching -DOID:0111770 46,XY sex reversal 9 skos:exactMatch OMIM:616067 semapv:UnspecifiedMatching DOID:0111771 46,XY sex reversal 4 oboInOwl:hasDbXref MESH:C567887 semapv:UnspecifiedMatching -DOID:0111771 46,XY sex reversal 4 oboInOwl:hasDbXref OMIM:154230 semapv:UnspecifiedMatching -DOID:0111771 46,XY sex reversal 4 skos:exactMatch OMIM:154230 semapv:UnspecifiedMatching -DOID:0111772 46,XY sex reversal 3 oboInOwl:hasDbXref OMIM:612965 semapv:UnspecifiedMatching -DOID:0111772 46,XY sex reversal 3 skos:exactMatch OMIM:612965 semapv:UnspecifiedMatching -DOID:0111773 46,XY sex reversal 8 oboInOwl:hasDbXref OMIM:614279 semapv:UnspecifiedMatching DOID:0111773 46,XY sex reversal 8 oboInOwl:hasDbXref ORDO:443087 semapv:UnspecifiedMatching -DOID:0111773 46,XY sex reversal 8 skos:exactMatch OMIM:614279 semapv:UnspecifiedMatching -DOID:0111774 46,XY sex reversal 7 oboInOwl:hasDbXref OMIM:233420 semapv:UnspecifiedMatching -DOID:0111774 46,XY sex reversal 7 skos:exactMatch OMIM:233420 semapv:UnspecifiedMatching -DOID:0111775 46,XY sex reversal 10 oboInOwl:hasDbXref OMIM:616425 semapv:UnspecifiedMatching -DOID:0111775 46,XY sex reversal 10 skos:exactMatch OMIM:616425 semapv:UnspecifiedMatching DOID:0111776 46,XY sex reversal 5 oboInOwl:hasDbXref MESH:C567766 semapv:UnspecifiedMatching -DOID:0111776 46,XY sex reversal 5 oboInOwl:hasDbXref OMIM:613080 semapv:UnspecifiedMatching -DOID:0111776 46,XY sex reversal 5 skos:exactMatch OMIM:613080 semapv:UnspecifiedMatching DOID:0111777 46,XY sex reversal 2 oboInOwl:hasDbXref GARD:9159 semapv:UnspecifiedMatching -DOID:0111777 46,XY sex reversal 2 oboInOwl:hasDbXref OMIM:300018 semapv:UnspecifiedMatching -DOID:0111777 46,XY sex reversal 2 skos:exactMatch OMIM:300018 semapv:UnspecifiedMatching -DOID:0111778 46,XY sex reversal 1 oboInOwl:hasDbXref OMIM:400044 semapv:UnspecifiedMatching -DOID:0111778 46,XY sex reversal 1 skos:exactMatch OMIM:400044 semapv:UnspecifiedMatching DOID:0111779 X-linked panhypopituitarism oboInOwl:hasDbXref GARD:6737 semapv:UnspecifiedMatching -DOID:0111779 X-linked panhypopituitarism oboInOwl:hasDbXref OMIM:312000 semapv:UnspecifiedMatching -DOID:0111779 X-linked panhypopituitarism skos:exactMatch OMIM:312000 semapv:UnspecifiedMatching DOID:0111780 TARP syndrome oboInOwl:hasDbXref GARD:10089 semapv:UnspecifiedMatching DOID:0111780 TARP syndrome oboInOwl:hasDbXref MESH:C536942 semapv:UnspecifiedMatching -DOID:0111780 TARP syndrome oboInOwl:hasDbXref OMIM:311900 semapv:UnspecifiedMatching DOID:0111780 TARP syndrome oboInOwl:hasDbXref ORDO:2886 semapv:UnspecifiedMatching DOID:0111780 TARP syndrome oboInOwl:hasDbXref UMLS:C1839463 semapv:UnspecifiedMatching -DOID:0111780 TARP syndrome skos:exactMatch OMIM:311900 semapv:UnspecifiedMatching -DOID:0111781 Waisman syndrome oboInOwl:hasDbXref OMIM:311510 semapv:UnspecifiedMatching -DOID:0111781 Waisman syndrome skos:exactMatch OMIM:311510 semapv:UnspecifiedMatching DOID:0111782 otopalatodigital syndrome spectrum disorder oboInOwl:hasDbXref ORDO:364541 semapv:UnspecifiedMatching DOID:0111783 otopalatodigital syndrome type 1 oboInOwl:hasDbXref GARD:5121 semapv:UnspecifiedMatching DOID:0111783 otopalatodigital syndrome type 1 oboInOwl:hasDbXref MESH:C536065 semapv:UnspecifiedMatching DOID:0111783 otopalatodigital syndrome type 1 oboInOwl:hasDbXref NCI:C118845 semapv:UnspecifiedMatching -DOID:0111783 otopalatodigital syndrome type 1 oboInOwl:hasDbXref OMIM:311300 semapv:UnspecifiedMatching DOID:0111783 otopalatodigital syndrome type 1 oboInOwl:hasDbXref ORDO:90650 semapv:UnspecifiedMatching DOID:0111783 otopalatodigital syndrome type 1 oboInOwl:hasDbXref UMLS:C0265251 semapv:UnspecifiedMatching -DOID:0111783 otopalatodigital syndrome type 1 skos:exactMatch OMIM:311300 semapv:UnspecifiedMatching DOID:0111784 otopalatodigital syndrome type 2 oboInOwl:hasDbXref GARD:5802 semapv:UnspecifiedMatching DOID:0111784 otopalatodigital syndrome type 2 oboInOwl:hasDbXref MESH:C538089 semapv:UnspecifiedMatching -DOID:0111784 otopalatodigital syndrome type 2 oboInOwl:hasDbXref OMIM:304120 semapv:UnspecifiedMatching DOID:0111784 otopalatodigital syndrome type 2 oboInOwl:hasDbXref ORDO:90652 semapv:UnspecifiedMatching DOID:0111784 otopalatodigital syndrome type 2 oboInOwl:hasDbXref UMLS:C1844696 semapv:UnspecifiedMatching -DOID:0111784 otopalatodigital syndrome type 2 skos:exactMatch OMIM:304120 semapv:UnspecifiedMatching DOID:0111785 frontometaphyseal dysplasia oboInOwl:hasDbXref GARD:826 semapv:UnspecifiedMatching DOID:0111785 frontometaphyseal dysplasia oboInOwl:hasDbXref MESH:C538064 semapv:UnspecifiedMatching -DOID:0111785 frontometaphyseal dysplasia oboInOwl:hasDbXref OMIMPS:305620 semapv:UnspecifiedMatching DOID:0111785 frontometaphyseal dysplasia oboInOwl:hasDbXref ORDO:1826 semapv:UnspecifiedMatching DOID:0111785 frontometaphyseal dysplasia oboInOwl:hasDbXref UMLS:C0265293 semapv:UnspecifiedMatching -DOID:0111785 frontometaphyseal dysplasia skos:exactMatch OMIMPS:305620 semapv:UnspecifiedMatching -DOID:0111786 frontometaphyseal dysplasia 1 oboInOwl:hasDbXref OMIM:305620 semapv:UnspecifiedMatching -DOID:0111786 frontometaphyseal dysplasia 1 skos:exactMatch OMIM:305620 semapv:UnspecifiedMatching -DOID:0111787 frontometaphyseal dysplasia 2 oboInOwl:hasDbXref OMIM:617137 semapv:UnspecifiedMatching -DOID:0111787 frontometaphyseal dysplasia 2 skos:exactMatch OMIM:617137 semapv:UnspecifiedMatching DOID:0111788 Melnick-Needles syndrome oboInOwl:hasDbXref GARD:7011 semapv:UnspecifiedMatching DOID:0111788 Melnick-Needles syndrome oboInOwl:hasDbXref MEDDRA:10060908 semapv:UnspecifiedMatching DOID:0111788 Melnick-Needles syndrome oboInOwl:hasDbXref MESH:D010009 semapv:UnspecifiedMatching -DOID:0111788 Melnick-Needles syndrome oboInOwl:hasDbXref OMIM:309350 semapv:UnspecifiedMatching DOID:0111788 Melnick-Needles syndrome oboInOwl:hasDbXref ORDO:1826 semapv:UnspecifiedMatching DOID:0111788 Melnick-Needles syndrome oboInOwl:hasDbXref UMLS:C0025237 semapv:UnspecifiedMatching -DOID:0111788 Melnick-Needles syndrome skos:exactMatch OMIM:309350 semapv:UnspecifiedMatching DOID:0111789 Frank-Ter Haar syndrome oboInOwl:hasDbXref GARD:5138 semapv:UnspecifiedMatching DOID:0111789 Frank-Ter Haar syndrome oboInOwl:hasDbXref MESH:C537274 semapv:UnspecifiedMatching -DOID:0111789 Frank-Ter Haar syndrome oboInOwl:hasDbXref OMIM:249420 semapv:UnspecifiedMatching DOID:0111789 Frank-Ter Haar syndrome oboInOwl:hasDbXref ORDO:137834 semapv:UnspecifiedMatching DOID:0111789 Frank-Ter Haar syndrome oboInOwl:hasDbXref UMLS:C1855305 semapv:UnspecifiedMatching -DOID:0111789 Frank-Ter Haar syndrome skos:exactMatch OMIM:249420 semapv:UnspecifiedMatching DOID:0111790 congenital nystagmus 1 oboInOwl:hasDbXref GARD:2969 semapv:UnspecifiedMatching -DOID:0111790 congenital nystagmus 1 oboInOwl:hasDbXref OMIM:310700 semapv:UnspecifiedMatching -DOID:0111790 congenital nystagmus 1 skos:exactMatch OMIM:310700 semapv:UnspecifiedMatching -DOID:0111791 congenital nystagmus 7 oboInOwl:hasDbXref OMIM:614826 semapv:UnspecifiedMatching -DOID:0111791 congenital nystagmus 7 skos:exactMatch OMIM:614826 semapv:UnspecifiedMatching DOID:0111792 congenital nystagmus 2 oboInOwl:hasDbXref GARD:9599 semapv:UnspecifiedMatching -DOID:0111792 congenital nystagmus 2 oboInOwl:hasDbXref OMIM:164100 semapv:UnspecifiedMatching -DOID:0111792 congenital nystagmus 2 skos:exactMatch OMIM:164100 semapv:UnspecifiedMatching DOID:0111793 congenital nystagmus 3 oboInOwl:hasDbXref GARD:9600 semapv:UnspecifiedMatching -DOID:0111793 congenital nystagmus 3 oboInOwl:hasDbXref OMIM:608345 semapv:UnspecifiedMatching -DOID:0111793 congenital nystagmus 3 skos:exactMatch OMIM:608345 semapv:UnspecifiedMatching -DOID:0111795 congenital nystagmus 6 oboInOwl:hasDbXref OMIM:300814 semapv:UnspecifiedMatching -DOID:0111795 congenital nystagmus 6 skos:exactMatch OMIM:300814 semapv:UnspecifiedMatching -DOID:0111796 congenital nystagmus 5 oboInOwl:hasDbXref OMIM:300589 semapv:UnspecifiedMatching -DOID:0111796 congenital nystagmus 5 skos:exactMatch OMIM:300589 semapv:UnspecifiedMatching DOID:0111797 autosomal recessive congenital nystagmus oboInOwl:hasDbXref GARD:9609 semapv:UnspecifiedMatching -DOID:0111797 autosomal recessive congenital nystagmus oboInOwl:hasDbXref OMIM:257400 semapv:UnspecifiedMatching -DOID:0111797 autosomal recessive congenital nystagmus skos:exactMatch OMIM:257400 semapv:UnspecifiedMatching -DOID:0111798 X-linked nephrolithiasis type I oboInOwl:hasDbXref OMIM:310468 semapv:UnspecifiedMatching -DOID:0111798 X-linked nephrolithiasis type I skos:exactMatch OMIM:310468 semapv:UnspecifiedMatching DOID:0111799 syndromic microphthalmia 1 oboInOwl:hasDbXref GARD:5066 semapv:UnspecifiedMatching DOID:0111799 syndromic microphthalmia 1 oboInOwl:hasDbXref GARD:87 semapv:UnspecifiedMatching -DOID:0111799 syndromic microphthalmia 1 oboInOwl:hasDbXref OMIM:309800 semapv:UnspecifiedMatching DOID:0111799 syndromic microphthalmia 1 oboInOwl:hasDbXref ORDO:568 semapv:UnspecifiedMatching DOID:0111799 syndromic microphthalmia 1 oboInOwl:hasDbXref ORDO:85275 semapv:UnspecifiedMatching DOID:0111799 syndromic microphthalmia 1 oboInOwl:hasDbXref UMLS:C1844948 semapv:UnspecifiedMatching DOID:0111799 syndromic microphthalmia 1 skos:exactMatch MESH:C537464 semapv:UnspecifiedMatching DOID:0111799 syndromic microphthalmia 1 skos:exactMatch MESH:C564457 semapv:UnspecifiedMatching -DOID:0111799 syndromic microphthalmia 1 skos:exactMatch OMIM:309800 semapv:UnspecifiedMatching DOID:0111800 syndromic microphthalmia 12 oboInOwl:hasDbXref GARD:13235 semapv:UnspecifiedMatching -DOID:0111800 syndromic microphthalmia 12 oboInOwl:hasDbXref OMIM:615524 semapv:UnspecifiedMatching -DOID:0111800 syndromic microphthalmia 12 skos:exactMatch OMIM:615524 semapv:UnspecifiedMatching DOID:0111801 syndromic microphthalmia 3 oboInOwl:hasDbXref GARD:1443 semapv:UnspecifiedMatching DOID:0111801 syndromic microphthalmia 3 oboInOwl:hasDbXref MESH:C565948 semapv:UnspecifiedMatching -DOID:0111801 syndromic microphthalmia 3 oboInOwl:hasDbXref OMIM:206900 semapv:UnspecifiedMatching DOID:0111801 syndromic microphthalmia 3 oboInOwl:hasDbXref ORDO:77298 semapv:UnspecifiedMatching DOID:0111801 syndromic microphthalmia 3 oboInOwl:hasDbXref UMLS:C1859773 semapv:UnspecifiedMatching -DOID:0111801 syndromic microphthalmia 3 skos:exactMatch OMIM:206900 semapv:UnspecifiedMatching -DOID:0111802 syndromic microphthalmia 14 oboInOwl:hasDbXref OMIM:615877 semapv:UnspecifiedMatching DOID:0111802 syndromic microphthalmia 14 oboInOwl:hasDbXref ORDO:424099 semapv:UnspecifiedMatching -DOID:0111802 syndromic microphthalmia 14 skos:exactMatch OMIM:615877 semapv:UnspecifiedMatching DOID:0111803 syndromic microphthalmia 8 oboInOwl:hasDbXref GARD:3693 semapv:UnspecifiedMatching DOID:0111803 syndromic microphthalmia 8 oboInOwl:hasDbXref MESH:C537686 semapv:UnspecifiedMatching -DOID:0111803 syndromic microphthalmia 8 oboInOwl:hasDbXref OMIM:601349 semapv:UnspecifiedMatching DOID:0111803 syndromic microphthalmia 8 oboInOwl:hasDbXref ORDO:3434 semapv:UnspecifiedMatching DOID:0111803 syndromic microphthalmia 8 oboInOwl:hasDbXref UMLS:C1832440 semapv:UnspecifiedMatching -DOID:0111803 syndromic microphthalmia 8 skos:exactMatch OMIM:601349 semapv:UnspecifiedMatching -DOID:0111804 syndromic microphthalmia 11 oboInOwl:hasDbXref OMIM:614402 semapv:UnspecifiedMatching -DOID:0111804 syndromic microphthalmia 11 skos:exactMatch OMIM:614402 semapv:UnspecifiedMatching DOID:0111805 syndromic microphthalmia 6 oboInOwl:hasDbXref GARD:3645 semapv:UnspecifiedMatching DOID:0111805 syndromic microphthalmia 6 oboInOwl:hasDbXref MESH:C566440 semapv:UnspecifiedMatching -DOID:0111805 syndromic microphthalmia 6 oboInOwl:hasDbXref OMIM:607932 semapv:UnspecifiedMatching DOID:0111805 syndromic microphthalmia 6 oboInOwl:hasDbXref ORDO:139471 semapv:UnspecifiedMatching DOID:0111805 syndromic microphthalmia 6 oboInOwl:hasDbXref UMLS:C1864689 semapv:UnspecifiedMatching -DOID:0111805 syndromic microphthalmia 6 skos:exactMatch OMIM:607932 semapv:UnspecifiedMatching DOID:0111806 syndromic microphthalmia 5 oboInOwl:hasDbXref GARD:3692 semapv:UnspecifiedMatching DOID:0111806 syndromic microphthalmia 5 oboInOwl:hasDbXref MESH:C566441 semapv:UnspecifiedMatching -DOID:0111806 syndromic microphthalmia 5 oboInOwl:hasDbXref OMIM:610125 semapv:UnspecifiedMatching DOID:0111806 syndromic microphthalmia 5 oboInOwl:hasDbXref ORDO:178364 semapv:UnspecifiedMatching DOID:0111806 syndromic microphthalmia 5 oboInOwl:hasDbXref UMLS:C1864690 semapv:UnspecifiedMatching -DOID:0111806 syndromic microphthalmia 5 skos:exactMatch OMIM:610125 semapv:UnspecifiedMatching DOID:0111807 syndromic microphthalmia 9 oboInOwl:hasDbXref MESH:C537768 semapv:UnspecifiedMatching -DOID:0111807 syndromic microphthalmia 9 oboInOwl:hasDbXref OMIM:601186 semapv:UnspecifiedMatching DOID:0111807 syndromic microphthalmia 9 oboInOwl:hasDbXref ORDO:2470 semapv:UnspecifiedMatching DOID:0111807 syndromic microphthalmia 9 oboInOwl:hasDbXref UMLS:C1832661 semapv:UnspecifiedMatching -DOID:0111807 syndromic microphthalmia 9 skos:exactMatch OMIM:601186 semapv:UnspecifiedMatching DOID:0111808 linear skin defects with multiple congenital anomalies 1 oboInOwl:hasDbXref MESH:C537466 semapv:UnspecifiedMatching -DOID:0111808 linear skin defects with multiple congenital anomalies 1 oboInOwl:hasDbXref OMIM:309801 semapv:UnspecifiedMatching -DOID:0111808 linear skin defects with multiple congenital anomalies 1 skos:exactMatch OMIM:309801 semapv:UnspecifiedMatching DOID:0111809 syndromic microphthalmia 2 oboInOwl:hasDbXref GARD:4628 semapv:UnspecifiedMatching DOID:0111809 syndromic microphthalmia 2 oboInOwl:hasDbXref MESH:C537465 semapv:UnspecifiedMatching -DOID:0111809 syndromic microphthalmia 2 oboInOwl:hasDbXref OMIM:300166 semapv:UnspecifiedMatching DOID:0111809 syndromic microphthalmia 2 oboInOwl:hasDbXref ORDO:2712 semapv:UnspecifiedMatching DOID:0111809 syndromic microphthalmia 2 oboInOwl:hasDbXref UMLS:C1846265 semapv:UnspecifiedMatching -DOID:0111809 syndromic microphthalmia 2 skos:exactMatch OMIM:300166 semapv:UnspecifiedMatching -DOID:0111811 syndromic microphthalmia 13 oboInOwl:hasDbXref OMIM:300915 semapv:UnspecifiedMatching DOID:0111811 syndromic microphthalmia 13 oboInOwl:hasDbXref ORDO:431140 semapv:UnspecifiedMatching -DOID:0111811 syndromic microphthalmia 13 skos:exactMatch OMIM:300915 semapv:UnspecifiedMatching DOID:0111812 syndromic microphthalmia 10 oboInOwl:hasDbXref GARD:9292 semapv:UnspecifiedMatching -DOID:0111812 syndromic microphthalmia 10 oboInOwl:hasDbXref OMIM:611222 semapv:UnspecifiedMatching DOID:0111812 syndromic microphthalmia 10 oboInOwl:hasDbXref ORDO:77299 semapv:UnspecifiedMatching -DOID:0111812 syndromic microphthalmia 10 skos:exactMatch OMIM:611222 semapv:UnspecifiedMatching DOID:0111813 syndactyly type 8 oboInOwl:hasDbXref GARD:3559 semapv:UnspecifiedMatching DOID:0111813 syndactyly type 8 oboInOwl:hasDbXref MESH:C564100 semapv:UnspecifiedMatching -DOID:0111813 syndactyly type 8 oboInOwl:hasDbXref OMIM:309630 semapv:UnspecifiedMatching DOID:0111813 syndactyly type 8 oboInOwl:hasDbXref ORDO:2498 semapv:UnspecifiedMatching DOID:0111813 syndactyly type 8 oboInOwl:hasDbXref UMLS:C1839728 semapv:UnspecifiedMatching -DOID:0111813 syndactyly type 8 skos:exactMatch OMIM:309630 semapv:UnspecifiedMatching -DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type oboInOwl:hasDbXref OMIM:309541 semapv:UnspecifiedMatching DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type oboInOwl:hasDbXref ORDO:369962 semapv:UnspecifiedMatching -DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type skos:exactMatch OMIM:309541 semapv:UnspecifiedMatching -DOID:0111815 low molecular weight proteinuria with hypercalciuric nephrocalcinosis oboInOwl:hasDbXref OMIM:308990 semapv:UnspecifiedMatching -DOID:0111815 low molecular weight proteinuria with hypercalciuric nephrocalcinosis skos:exactMatch OMIM:308990 semapv:UnspecifiedMatching DOID:0111816 syndactyly type 1 oboInOwl:hasDbXref GARD:5081 semapv:UnspecifiedMatching -DOID:0111816 syndactyly type 1 oboInOwl:hasDbXref OMIM:185900 semapv:UnspecifiedMatching DOID:0111816 syndactyly type 1 oboInOwl:hasDbXref ORDO:93402 semapv:UnspecifiedMatching -DOID:0111816 syndactyly type 1 skos:exactMatch OMIM:185900 semapv:UnspecifiedMatching DOID:0111817 syndactyly type 3 oboInOwl:hasDbXref GARD:5088 semapv:UnspecifiedMatching DOID:0111817 syndactyly type 3 oboInOwl:hasDbXref MESH:C538154 semapv:UnspecifiedMatching -DOID:0111817 syndactyly type 3 oboInOwl:hasDbXref OMIM:186100 semapv:UnspecifiedMatching DOID:0111817 syndactyly type 3 oboInOwl:hasDbXref ORDO:93404 semapv:UnspecifiedMatching DOID:0111817 syndactyly type 3 oboInOwl:hasDbXref UMLS:C1861366 semapv:UnspecifiedMatching -DOID:0111817 syndactyly type 3 skos:exactMatch OMIM:186100 semapv:UnspecifiedMatching DOID:0111818 syndactyly type 4 oboInOwl:hasDbXref GARD:4434 semapv:UnspecifiedMatching DOID:0111818 syndactyly type 4 oboInOwl:hasDbXref MESH:C566092 semapv:UnspecifiedMatching -DOID:0111818 syndactyly type 4 oboInOwl:hasDbXref OMIM:186200 semapv:UnspecifiedMatching DOID:0111818 syndactyly type 4 oboInOwl:hasDbXref ORDO:93405 semapv:UnspecifiedMatching DOID:0111818 syndactyly type 4 oboInOwl:hasDbXref UMLS:C1861355 semapv:UnspecifiedMatching -DOID:0111818 syndactyly type 4 skos:exactMatch OMIM:186200 semapv:UnspecifiedMatching DOID:0111819 syndactyly type 5 oboInOwl:hasDbXref GARD:5089 semapv:UnspecifiedMatching DOID:0111819 syndactyly type 5 oboInOwl:hasDbXref MESH:C538155 semapv:UnspecifiedMatching -DOID:0111819 syndactyly type 5 oboInOwl:hasDbXref OMIM:186300 semapv:UnspecifiedMatching DOID:0111819 syndactyly type 5 oboInOwl:hasDbXref ORDO:93406 semapv:UnspecifiedMatching DOID:0111819 syndactyly type 5 oboInOwl:hasDbXref UMLS:C1861348 semapv:UnspecifiedMatching -DOID:0111819 syndactyly type 5 skos:exactMatch OMIM:186300 semapv:UnspecifiedMatching DOID:0111820 zygodactyly 1 oboInOwl:hasDbXref MESH:C565223 semapv:UnspecifiedMatching -DOID:0111820 zygodactyly 1 oboInOwl:hasDbXref OMIM:609815 semapv:UnspecifiedMatching -DOID:0111820 zygodactyly 1 skos:exactMatch OMIM:609815 semapv:UnspecifiedMatching DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 oboInOwl:hasDbXref GARD:2952 semapv:UnspecifiedMatching DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 oboInOwl:hasDbXref MESH:C536085 semapv:UnspecifiedMatching -DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 oboInOwl:hasDbXref OMIM:308205 semapv:UnspecifiedMatching DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 oboInOwl:hasDbXref ORDO:2273 semapv:UnspecifiedMatching DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 oboInOwl:hasDbXref UMLS:C1839988 semapv:UnspecifiedMatching -DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 skos:exactMatch OMIM:308205 semapv:UnspecifiedMatching DOID:0111822 CHILD syndrome oboInOwl:hasDbXref GARD:6039 semapv:UnspecifiedMatching DOID:0111822 CHILD syndrome oboInOwl:hasDbXref MESH:C562515 semapv:UnspecifiedMatching -DOID:0111822 CHILD syndrome oboInOwl:hasDbXref OMIM:308050 semapv:UnspecifiedMatching DOID:0111822 CHILD syndrome oboInOwl:hasDbXref ORDO:139 semapv:UnspecifiedMatching DOID:0111822 CHILD syndrome oboInOwl:hasDbXref UMLS:C0265267 semapv:UnspecifiedMatching -DOID:0111822 CHILD syndrome skos:exactMatch OMIM:308050 semapv:UnspecifiedMatching -DOID:0111823 autosomal hemophilia A oboInOwl:hasDbXref OMIM:134500 semapv:UnspecifiedMatching -DOID:0111823 autosomal hemophilia A skos:exactMatch OMIM:134500 semapv:UnspecifiedMatching DOID:0111824 Aarskog syndrome oboInOwl:hasDbXref ORDO:915 semapv:UnspecifiedMatching -DOID:0111825 autosomal dominant Aarskog syndrome oboInOwl:hasDbXref OMIM:100050 semapv:UnspecifiedMatching -DOID:0111825 autosomal dominant Aarskog syndrome skos:exactMatch OMIM:100050 semapv:UnspecifiedMatching DOID:0111826 Abruzzo-Erickson syndrome oboInOwl:hasDbXref GARD:360 semapv:UnspecifiedMatching DOID:0111826 Abruzzo-Erickson syndrome oboInOwl:hasDbXref MESH:C535559 semapv:UnspecifiedMatching -DOID:0111826 Abruzzo-Erickson syndrome oboInOwl:hasDbXref OMIM:302905 semapv:UnspecifiedMatching DOID:0111826 Abruzzo-Erickson syndrome oboInOwl:hasDbXref ORDO:921 semapv:UnspecifiedMatching DOID:0111826 Abruzzo-Erickson syndrome oboInOwl:hasDbXref UMLS:C1844862 semapv:UnspecifiedMatching -DOID:0111826 Abruzzo-Erickson syndrome skos:exactMatch OMIM:302905 semapv:UnspecifiedMatching DOID:0111827 X-linked spinal muscular atrophy 2 oboInOwl:hasDbXref GARD:8521 semapv:UnspecifiedMatching DOID:0111827 X-linked spinal muscular atrophy 2 oboInOwl:hasDbXref MESH:C535380 semapv:UnspecifiedMatching -DOID:0111827 X-linked spinal muscular atrophy 2 oboInOwl:hasDbXref OMIM:301830 semapv:UnspecifiedMatching DOID:0111827 X-linked spinal muscular atrophy 2 oboInOwl:hasDbXref ORDO:1145 semapv:UnspecifiedMatching DOID:0111827 X-linked spinal muscular atrophy 2 oboInOwl:hasDbXref UMLS:C1844934 semapv:UnspecifiedMatching -DOID:0111827 X-linked spinal muscular atrophy 2 skos:exactMatch OMIM:301830 semapv:UnspecifiedMatching DOID:0111828 X-linked cerebellar ataxia oboInOwl:hasDbXref ORDO:247765 semapv:UnspecifiedMatching -DOID:0111829 X-linked spinocerebellar ataxia 1 oboInOwl:hasDbXref OMIM:302500 semapv:UnspecifiedMatching DOID:0111829 X-linked spinocerebellar ataxia 1 oboInOwl:hasDbXref ORDO:1175 semapv:UnspecifiedMatching -DOID:0111829 X-linked spinocerebellar ataxia 1 skos:exactMatch OMIM:302500 semapv:UnspecifiedMatching DOID:0111830 X-linked spinocerebellar ataxia 2 oboInOwl:hasDbXref GARD:9978 semapv:UnspecifiedMatching -DOID:0111830 X-linked spinocerebellar ataxia 2 oboInOwl:hasDbXref OMIM:302600 semapv:UnspecifiedMatching -DOID:0111830 X-linked spinocerebellar ataxia 2 skos:exactMatch OMIM:302600 semapv:UnspecifiedMatching DOID:0111831 X-linked spinocerebellar ataxia 3 oboInOwl:hasDbXref GARD:9981 semapv:UnspecifiedMatching DOID:0111831 X-linked spinocerebellar ataxia 3 oboInOwl:hasDbXref MESH:C537315 semapv:UnspecifiedMatching -DOID:0111831 X-linked spinocerebellar ataxia 3 oboInOwl:hasDbXref OMIM:301790 semapv:UnspecifiedMatching DOID:0111831 X-linked spinocerebellar ataxia 3 oboInOwl:hasDbXref ORDO:85297 semapv:UnspecifiedMatching -DOID:0111831 X-linked spinocerebellar ataxia 3 skos:exactMatch OMIM:301790 semapv:UnspecifiedMatching DOID:0111832 X-linked spinocerebellar ataxia 4 oboInOwl:hasDbXref GARD:9980 semapv:UnspecifiedMatching DOID:0111832 X-linked spinocerebellar ataxia 4 oboInOwl:hasDbXref MESH:C537316 semapv:UnspecifiedMatching -DOID:0111832 X-linked spinocerebellar ataxia 4 oboInOwl:hasDbXref OMIM:301840 semapv:UnspecifiedMatching DOID:0111832 X-linked spinocerebellar ataxia 4 oboInOwl:hasDbXref ORDO:85292 semapv:UnspecifiedMatching -DOID:0111832 X-linked spinocerebellar ataxia 4 skos:exactMatch OMIM:301840 semapv:UnspecifiedMatching DOID:0111833 X-linked spinocerebellar ataxia 5 oboInOwl:hasDbXref MESH:C567478 semapv:UnspecifiedMatching -DOID:0111833 X-linked spinocerebellar ataxia 5 oboInOwl:hasDbXref OMIM:300703 semapv:UnspecifiedMatching DOID:0111833 X-linked spinocerebellar ataxia 5 oboInOwl:hasDbXref ORDO:314978 semapv:UnspecifiedMatching DOID:0111833 X-linked spinocerebellar ataxia 5 oboInOwl:hasDbXref UMLS:C2678048 semapv:UnspecifiedMatching -DOID:0111833 X-linked spinocerebellar ataxia 5 skos:exactMatch OMIM:300703 semapv:UnspecifiedMatching DOID:0111834 X-linked reticulate pigmentary disorder oboInOwl:hasDbXref MESH:C564461 semapv:UnspecifiedMatching -DOID:0111834 X-linked reticulate pigmentary disorder oboInOwl:hasDbXref OMIM:301220 semapv:UnspecifiedMatching DOID:0111834 X-linked reticulate pigmentary disorder oboInOwl:hasDbXref ORDO:85453 semapv:UnspecifiedMatching DOID:0111834 X-linked reticulate pigmentary disorder oboInOwl:hasDbXref UMLS:C1845050 semapv:UnspecifiedMatching -DOID:0111834 X-linked reticulate pigmentary disorder skos:exactMatch OMIM:301220 semapv:UnspecifiedMatching -DOID:0111835 congenital nongoitrous hypothyroidism 9 oboInOwl:hasDbXref OMIM:301035 semapv:UnspecifiedMatching -DOID:0111835 congenital nongoitrous hypothyroidism 9 skos:exactMatch OMIM:301035 semapv:UnspecifiedMatching -DOID:0111836 congenital nongoitrous hypothyroidism 7 oboInOwl:hasDbXref OMIM:618573 semapv:UnspecifiedMatching DOID:0111836 congenital nongoitrous hypothyroidism 7 oboInOwl:hasDbXref ORDO:99832 semapv:UnspecifiedMatching -DOID:0111836 congenital nongoitrous hypothyroidism 7 skos:exactMatch OMIM:618573 semapv:UnspecifiedMatching -DOID:0111837 congenital nongoitrous hypothyroidism 8 oboInOwl:hasDbXref OMIM:301033 semapv:UnspecifiedMatching -DOID:0111837 congenital nongoitrous hypothyroidism 8 skos:exactMatch OMIM:301033 semapv:UnspecifiedMatching -DOID:0111838 Basilicata-Akhtar syndrome oboInOwl:hasDbXref OMIM:301032 semapv:UnspecifiedMatching -DOID:0111838 Basilicata-Akhtar syndrome skos:exactMatch OMIM:301032 semapv:UnspecifiedMatching -DOID:0111839 congenital disorder of glycosylation Icc oboInOwl:hasDbXref OMIM:301031 semapv:UnspecifiedMatching -DOID:0111839 congenital disorder of glycosylation Icc skos:exactMatch OMIM:301031 semapv:UnspecifiedMatching -DOID:0111840 Van Esch-O'Driscoll syndrome oboInOwl:hasDbXref OMIM:301030 semapv:UnspecifiedMatching DOID:0111840 Van Esch-O'Driscoll syndrome oboInOwl:hasDbXref ORDO:163976 semapv:UnspecifiedMatching -DOID:0111840 Van Esch-O'Driscoll syndrome skos:exactMatch OMIM:301030 semapv:UnspecifiedMatching -DOID:0111841 Shukla-Vernon syndrome oboInOwl:hasDbXref OMIM:301029 semapv:UnspecifiedMatching -DOID:0111841 Shukla-Vernon syndrome skos:exactMatch OMIM:301029 semapv:UnspecifiedMatching DOID:0111842 Keipert syndrome oboInOwl:hasDbXref GARD:267 semapv:UnspecifiedMatching DOID:0111842 Keipert syndrome oboInOwl:hasDbXref MESH:C538337 semapv:UnspecifiedMatching DOID:0111842 Keipert syndrome oboInOwl:hasDbXref NCI:C186306 semapv:UnspecifiedMatching -DOID:0111842 Keipert syndrome oboInOwl:hasDbXref OMIM:301026 semapv:UnspecifiedMatching DOID:0111842 Keipert syndrome oboInOwl:hasDbXref ORDO:2662 semapv:UnspecifiedMatching DOID:0111842 Keipert syndrome oboInOwl:hasDbXref UMLS:C1850627 semapv:UnspecifiedMatching -DOID:0111842 Keipert syndrome skos:exactMatch OMIM:301026 semapv:UnspecifiedMatching -DOID:0111843 Paganini-Miozzo syndrome oboInOwl:hasDbXref OMIM:301025 semapv:UnspecifiedMatching -DOID:0111843 Paganini-Miozzo syndrome skos:exactMatch OMIM:301025 semapv:UnspecifiedMatching -DOID:0111844 X-linked intellectual developmental disorder 108 oboInOwl:hasDbXref OMIM:301024 semapv:UnspecifiedMatching -DOID:0111844 X-linked intellectual developmental disorder 108 skos:exactMatch OMIM:301024 semapv:UnspecifiedMatching -DOID:0111845 Mullegama-Klein-Martinez syndrome oboInOwl:hasDbXref OMIM:301022 semapv:UnspecifiedMatching -DOID:0111845 Mullegama-Klein-Martinez syndrome skos:exactMatch OMIM:301022 semapv:UnspecifiedMatching -DOID:0111846 X-linked congenital hemolytic anemia oboInOwl:hasDbXref OMIM:301015 semapv:UnspecifiedMatching -DOID:0111846 X-linked congenital hemolytic anemia skos:exactMatch OMIM:301015 semapv:UnspecifiedMatching -DOID:0111847 osteogenesis imperfecta type 19 oboInOwl:hasDbXref OMIM:301014 semapv:UnspecifiedMatching -DOID:0111847 osteogenesis imperfecta type 19 skos:exactMatch OMIM:301014 semapv:UnspecifiedMatching -DOID:0111848 osteogenesis imperfecta type 18 oboInOwl:hasDbXref OMIM:617952 semapv:UnspecifiedMatching -DOID:0111848 osteogenesis imperfecta type 18 skos:exactMatch OMIM:617952 semapv:UnspecifiedMatching -DOID:0111849 osteogenesis imperfecta type 20 oboInOwl:hasDbXref OMIM:618644 semapv:UnspecifiedMatching -DOID:0111849 osteogenesis imperfecta type 20 skos:exactMatch OMIM:618644 semapv:UnspecifiedMatching -DOID:0111850 primary ciliary dyskinesia 36 oboInOwl:hasDbXref OMIM:300991 semapv:UnspecifiedMatching -DOID:0111850 primary ciliary dyskinesia 36 skos:exactMatch OMIM:300991 semapv:UnspecifiedMatching -DOID:0111851 primary ciliary dyskinesia 44 oboInOwl:hasDbXref OMIM:618781 semapv:UnspecifiedMatching -DOID:0111851 primary ciliary dyskinesia 44 skos:exactMatch OMIM:618781 semapv:UnspecifiedMatching -DOID:0111852 primary ciliary dyskinesia 38 oboInOwl:hasDbXref OMIM:618063 semapv:UnspecifiedMatching -DOID:0111852 primary ciliary dyskinesia 38 skos:exactMatch OMIM:618063 semapv:UnspecifiedMatching -DOID:0111853 primary ciliary dyskinesia 40 oboInOwl:hasDbXref OMIM:618300 semapv:UnspecifiedMatching -DOID:0111853 primary ciliary dyskinesia 40 skos:exactMatch OMIM:618300 semapv:UnspecifiedMatching -DOID:0111854 primary ciliary dyskinesia 39 oboInOwl:hasDbXref OMIM:618254 semapv:UnspecifiedMatching -DOID:0111854 primary ciliary dyskinesia 39 skos:exactMatch OMIM:618254 semapv:UnspecifiedMatching -DOID:0111855 primary ciliary dyskinesia 42 oboInOwl:hasDbXref OMIM:618695 semapv:UnspecifiedMatching -DOID:0111855 primary ciliary dyskinesia 42 skos:exactMatch OMIM:618695 semapv:UnspecifiedMatching -DOID:0111856 primary ciliary dyskinesia 43 oboInOwl:hasDbXref OMIM:618699 semapv:UnspecifiedMatching -DOID:0111856 primary ciliary dyskinesia 43 skos:exactMatch OMIM:618699 semapv:UnspecifiedMatching -DOID:0111857 primary ciliary dyskinesia 45 oboInOwl:hasDbXref OMIM:618801 semapv:UnspecifiedMatching -DOID:0111857 primary ciliary dyskinesia 45 skos:exactMatch OMIM:618801 semapv:UnspecifiedMatching -DOID:0111858 primary ciliary dyskinesia 41 oboInOwl:hasDbXref OMIM:618449 semapv:UnspecifiedMatching -DOID:0111858 primary ciliary dyskinesia 41 skos:exactMatch OMIM:618449 semapv:UnspecifiedMatching -DOID:0111859 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis oboInOwl:hasDbXref OMIM:300990 semapv:UnspecifiedMatching -DOID:0111859 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis skos:exactMatch OMIM:300990 semapv:UnspecifiedMatching DOID:0111860 AMME complex oboInOwl:hasDbXref MESH:C564570 semapv:UnspecifiedMatching -DOID:0111860 AMME complex oboInOwl:hasDbXref OMIM:300194 semapv:UnspecifiedMatching DOID:0111860 AMME complex oboInOwl:hasDbXref ORDO:86818 semapv:UnspecifiedMatching DOID:0111860 AMME complex oboInOwl:hasDbXref UMLS:C1846242 semapv:UnspecifiedMatching -DOID:0111860 AMME complex skos:exactMatch OMIM:300194 semapv:UnspecifiedMatching -DOID:0111861 Meester-Loeys syndrome oboInOwl:hasDbXref OMIM:300989 semapv:UnspecifiedMatching -DOID:0111861 Meester-Loeys syndrome skos:exactMatch OMIM:300989 semapv:UnspecifiedMatching -DOID:0111862 congenital bilateral absence of vas deferens oboInOwl:hasDbXref OMIMPS:277180 semapv:UnspecifiedMatching DOID:0111862 congenital bilateral absence of vas deferens oboInOwl:hasDbXref ORDO:48 semapv:UnspecifiedMatching -DOID:0111862 congenital bilateral absence of vas deferens skos:exactMatch OMIM:PS277180 semapv:UnspecifiedMatching -DOID:0111862 congenital bilateral absence of vas deferens skos:exactMatch OMIMPS:277180 semapv:UnspecifiedMatching -DOID:0111863 X-linked congenital bilateral absence of vas deferens oboInOwl:hasDbXref OMIM:300985 semapv:UnspecifiedMatching -DOID:0111863 X-linked congenital bilateral absence of vas deferens skos:exactMatch OMIM:300985 semapv:UnspecifiedMatching -DOID:0111864 autosomal recessive congenital bilateral absence of vas deferens oboInOwl:hasDbXref OMIM:277180 semapv:UnspecifiedMatching -DOID:0111864 autosomal recessive congenital bilateral absence of vas deferens skos:exactMatch OMIM:277180 semapv:UnspecifiedMatching -DOID:0111865 MEND syndrome oboInOwl:hasDbXref OMIM:300960 semapv:UnspecifiedMatching DOID:0111865 MEND syndrome oboInOwl:hasDbXref ORDO:401973 semapv:UnspecifiedMatching DOID:0111865 MEND syndrome oboInOwl:hasDbXref UMLS:C4085243 semapv:UnspecifiedMatching -DOID:0111865 MEND syndrome skos:exactMatch OMIM:300960 semapv:UnspecifiedMatching DOID:0111866 trichothiodystrophy oboInOwl:hasDbXref MESH:D054463 semapv:UnspecifiedMatching DOID:0111866 trichothiodystrophy oboInOwl:hasDbXref NCI:C4924 semapv:UnspecifiedMatching -DOID:0111866 trichothiodystrophy oboInOwl:hasDbXref OMIMPS:601675 semapv:UnspecifiedMatching DOID:0111866 trichothiodystrophy oboInOwl:hasDbXref ORDO:33364 semapv:UnspecifiedMatching DOID:0111866 trichothiodystrophy oboInOwl:hasDbXref UMLS:C1955934 semapv:UnspecifiedMatching -DOID:0111866 trichothiodystrophy skos:exactMatch OMIMPS:601675 semapv:UnspecifiedMatching DOID:0111868 nonphotosensitive trichothiodystrophy 5 oboInOwl:hasDbXref MESH:D054463 semapv:UnspecifiedMatching DOID:0111868 nonphotosensitive trichothiodystrophy 5 oboInOwl:hasDbXref NCI:C156433 semapv:UnspecifiedMatching -DOID:0111868 nonphotosensitive trichothiodystrophy 5 oboInOwl:hasDbXref OMIM:300953 semapv:UnspecifiedMatching -DOID:0111868 nonphotosensitive trichothiodystrophy 5 skos:exactMatch OMIM:300953 semapv:UnspecifiedMatching -DOID:0111869 photosensitive trichothiodystrophy 2 oboInOwl:hasDbXref OMIM:616390 semapv:UnspecifiedMatching -DOID:0111869 photosensitive trichothiodystrophy 2 skos:exactMatch OMIM:616390 semapv:UnspecifiedMatching -DOID:0111870 nonphotosensitive trichothiodystrophy 7 oboInOwl:hasDbXref OMIM:618546 semapv:UnspecifiedMatching -DOID:0111870 nonphotosensitive trichothiodystrophy 7 skos:exactMatch OMIM:618546 semapv:UnspecifiedMatching -DOID:0111871 photosensitive trichothiodystrophy 3 oboInOwl:hasDbXref OMIM:616395 semapv:UnspecifiedMatching -DOID:0111871 photosensitive trichothiodystrophy 3 skos:exactMatch OMIM:616395 semapv:UnspecifiedMatching -DOID:0111872 nonphotosensitive trichothiodystrophy 6 oboInOwl:hasDbXref OMIM:616943 semapv:UnspecifiedMatching -DOID:0111872 nonphotosensitive trichothiodystrophy 6 skos:exactMatch OMIM:616943 semapv:UnspecifiedMatching DOID:0111873 photosensitive trichothiodystrophy 1 oboInOwl:hasDbXref NCI:C156433 semapv:UnspecifiedMatching -DOID:0111873 photosensitive trichothiodystrophy 1 oboInOwl:hasDbXref OMIM:601675 semapv:UnspecifiedMatching -DOID:0111873 photosensitive trichothiodystrophy 1 skos:exactMatch OMIM:601675 semapv:UnspecifiedMatching DOID:0111874 Sabinas brittle hair syndrome oboInOwl:hasDbXref MESH:C536320 semapv:UnspecifiedMatching -DOID:0111874 Sabinas brittle hair syndrome oboInOwl:hasDbXref OMIM:211390 semapv:UnspecifiedMatching DOID:0111874 Sabinas brittle hair syndrome oboInOwl:hasDbXref ORDO:3123 semapv:UnspecifiedMatching -DOID:0111874 Sabinas brittle hair syndrome skos:exactMatch OMIM:211390 semapv:UnspecifiedMatching -DOID:0111875 MLS syndrome oboInOwl:hasDbXref OMIMPS:309801 semapv:UnspecifiedMatching -DOID:0111875 MLS syndrome skos:exactMatch OMIMPS:309801 semapv:UnspecifiedMatching -DOID:0111876 linear skin defects with multiple congenital anomalies 3 oboInOwl:hasDbXref OMIM:300952 semapv:UnspecifiedMatching -DOID:0111876 linear skin defects with multiple congenital anomalies 3 skos:exactMatch OMIM:300952 semapv:UnspecifiedMatching -DOID:0111877 linear skin defects with multiple congenital anomalies 2 oboInOwl:hasDbXref OMIM:300887 semapv:UnspecifiedMatching -DOID:0111877 linear skin defects with multiple congenital anomalies 2 skos:exactMatch OMIM:300887 semapv:UnspecifiedMatching DOID:0111878 Diamond-Blackfan anemia 7 oboInOwl:hasDbXref MESH:C567254 semapv:UnspecifiedMatching -DOID:0111878 Diamond-Blackfan anemia 7 oboInOwl:hasDbXref OMIM:612562 semapv:UnspecifiedMatching -DOID:0111878 Diamond-Blackfan anemia 7 skos:exactMatch OMIM:612562 semapv:UnspecifiedMatching DOID:0111879 Diamond-Blackfan anemia 6 oboInOwl:hasDbXref MESH:C538442 semapv:UnspecifiedMatching -DOID:0111879 Diamond-Blackfan anemia 6 oboInOwl:hasDbXref OMIM:612561 semapv:UnspecifiedMatching -DOID:0111879 Diamond-Blackfan anemia 6 skos:exactMatch OMIM:612561 semapv:UnspecifiedMatching -DOID:0111880 Diamond-Blackfan anemia 17 oboInOwl:hasDbXref OMIM:617409 semapv:UnspecifiedMatching -DOID:0111880 Diamond-Blackfan anemia 17 skos:exactMatch OMIM:617409 semapv:UnspecifiedMatching DOID:0111881 Diamond-Blackfan anemia 8 oboInOwl:hasDbXref MESH:C567253 semapv:UnspecifiedMatching -DOID:0111881 Diamond-Blackfan anemia 8 oboInOwl:hasDbXref OMIM:612563 semapv:UnspecifiedMatching -DOID:0111881 Diamond-Blackfan anemia 8 skos:exactMatch OMIM:612563 semapv:UnspecifiedMatching -DOID:0111882 Diamond-Blackfan anemia 12 oboInOwl:hasDbXref OMIM:615550 semapv:UnspecifiedMatching -DOID:0111882 Diamond-Blackfan anemia 12 skos:exactMatch OMIM:615550 semapv:UnspecifiedMatching DOID:0111883 Diamond-Blackfan anemia 5 oboInOwl:hasDbXref MESH:C567280 semapv:UnspecifiedMatching -DOID:0111883 Diamond-Blackfan anemia 5 oboInOwl:hasDbXref OMIM:612528 semapv:UnspecifiedMatching -DOID:0111883 Diamond-Blackfan anemia 5 skos:exactMatch OMIM:612528 semapv:UnspecifiedMatching DOID:0111884 Diamond-Blackfan anemia 9 oboInOwl:hasDbXref MESH:C567650 semapv:UnspecifiedMatching -DOID:0111884 Diamond-Blackfan anemia 9 oboInOwl:hasDbXref OMIM:613308 semapv:UnspecifiedMatching -DOID:0111884 Diamond-Blackfan anemia 9 skos:exactMatch OMIM:613308 semapv:UnspecifiedMatching DOID:0111885 Diamond-Blackfan anemia 2 oboInOwl:hasDbXref MESH:C536130 semapv:UnspecifiedMatching -DOID:0111885 Diamond-Blackfan anemia 2 oboInOwl:hasDbXref OMIM:606129 semapv:UnspecifiedMatching -DOID:0111885 Diamond-Blackfan anemia 2 skos:exactMatch OMIM:606129 semapv:UnspecifiedMatching -DOID:0111886 Diamond-Blackfan anemia 19 oboInOwl:hasDbXref OMIM:618312 semapv:UnspecifiedMatching -DOID:0111886 Diamond-Blackfan anemia 19 skos:exactMatch OMIM:618312 semapv:UnspecifiedMatching DOID:0111887 Diamond-blackfan anemia 3 oboInOwl:hasDbXref MESH:C536355 semapv:UnspecifiedMatching -DOID:0111887 Diamond-blackfan anemia 3 oboInOwl:hasDbXref OMIM:610629 semapv:UnspecifiedMatching -DOID:0111887 Diamond-blackfan anemia 3 skos:exactMatch OMIM:610629 semapv:UnspecifiedMatching DOID:0111888 Diamond-Blackfan anemia 10 oboInOwl:hasDbXref MESH:C567649 semapv:UnspecifiedMatching -DOID:0111888 Diamond-Blackfan anemia 10 oboInOwl:hasDbXref OMIM:613309 semapv:UnspecifiedMatching -DOID:0111888 Diamond-Blackfan anemia 10 skos:exactMatch OMIM:613309 semapv:UnspecifiedMatching -DOID:0111889 Diamond-Blackfan anemia 13 oboInOwl:hasDbXref OMIM:615909 semapv:UnspecifiedMatching -DOID:0111889 Diamond-Blackfan anemia 13 skos:exactMatch OMIM:615909 semapv:UnspecifiedMatching DOID:0111890 Diamond-Blackfan anemia 4 oboInOwl:hasDbXref MESH:C567281 semapv:UnspecifiedMatching -DOID:0111890 Diamond-Blackfan anemia 4 oboInOwl:hasDbXref OMIM:612527 semapv:UnspecifiedMatching -DOID:0111890 Diamond-Blackfan anemia 4 skos:exactMatch OMIM:612527 semapv:UnspecifiedMatching -DOID:0111891 Diamond-Blackfan anemia 20 oboInOwl:hasDbXref OMIM:618313 semapv:UnspecifiedMatching -DOID:0111891 Diamond-Blackfan anemia 20 skos:exactMatch OMIM:618313 semapv:UnspecifiedMatching -DOID:0111892 Diamond-Blackfan anemia 11 oboInOwl:hasDbXref OMIM:614900 semapv:UnspecifiedMatching -DOID:0111892 Diamond-Blackfan anemia 11 skos:exactMatch OMIM:614900 semapv:UnspecifiedMatching -DOID:0111893 Diamond-Blackfan anemia 16 oboInOwl:hasDbXref OMIM:617408 semapv:UnspecifiedMatching -DOID:0111893 Diamond-Blackfan anemia 16 skos:exactMatch OMIM:617408 semapv:UnspecifiedMatching -DOID:0111894 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis oboInOwl:hasDbXref OMIM:606164 semapv:UnspecifiedMatching -DOID:0111894 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis skos:exactMatch OMIM:606164 semapv:UnspecifiedMatching DOID:0111895 Diamond-Blackfan anemia 1 oboInOwl:hasDbXref MESH:C567302 semapv:UnspecifiedMatching -DOID:0111895 Diamond-Blackfan anemia 1 oboInOwl:hasDbXref OMIM:105650 semapv:UnspecifiedMatching -DOID:0111895 Diamond-Blackfan anemia 1 skos:exactMatch OMIM:105650 semapv:UnspecifiedMatching -DOID:0111896 Diamond-Blackfan anemia 18 oboInOwl:hasDbXref OMIM:618310 semapv:UnspecifiedMatching -DOID:0111896 Diamond-Blackfan anemia 18 skos:exactMatch OMIM:618310 semapv:UnspecifiedMatching -DOID:0111897 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis oboInOwl:hasDbXref OMIM:300946 semapv:UnspecifiedMatching -DOID:0111897 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis skos:exactMatch OMIM:300946 semapv:UnspecifiedMatching -DOID:0111898 CK syndrome oboInOwl:hasDbXref OMIM:300831 semapv:UnspecifiedMatching DOID:0111898 CK syndrome oboInOwl:hasDbXref ORDO:251383 semapv:UnspecifiedMatching DOID:0111898 CK syndrome oboInOwl:hasDbXref UMLS:C3151781 semapv:UnspecifiedMatching -DOID:0111898 CK syndrome skos:exactMatch OMIM:300831 semapv:UnspecifiedMatching DOID:0111899 X-linked thrombophilia due to factor IX defect oboInOwl:hasDbXref MESH:C567581 semapv:UnspecifiedMatching -DOID:0111899 X-linked thrombophilia due to factor IX defect oboInOwl:hasDbXref OMIM:300807 semapv:UnspecifiedMatching DOID:0111899 X-linked thrombophilia due to factor IX defect oboInOwl:hasDbXref UMLS:C2749016 semapv:UnspecifiedMatching -DOID:0111899 X-linked thrombophilia due to factor IX defect skos:exactMatch OMIM:300807 semapv:UnspecifiedMatching -DOID:0111900 autosomal dominant thrombophilia due to protein S deficiency oboInOwl:hasDbXref OMIM:612336 semapv:UnspecifiedMatching DOID:0111900 autosomal dominant thrombophilia due to protein S deficiency oboInOwl:hasDbXref UMLS:C3278211 semapv:UnspecifiedMatching -DOID:0111900 autosomal dominant thrombophilia due to protein S deficiency skos:exactMatch OMIM:612336 semapv:UnspecifiedMatching DOID:0111901 heparin cofactor II deficiency oboInOwl:hasDbXref MESH:C562865 semapv:UnspecifiedMatching -DOID:0111901 heparin cofactor II deficiency oboInOwl:hasDbXref OMIM:612356 semapv:UnspecifiedMatching DOID:0111901 heparin cofactor II deficiency oboInOwl:hasDbXref UMLS:C0398626 semapv:UnspecifiedMatching -DOID:0111901 heparin cofactor II deficiency skos:exactMatch OMIM:612356 semapv:UnspecifiedMatching DOID:0111902 thrombophilia due to activated protein C resistance oboInOwl:hasDbXref MESH:C566056 semapv:UnspecifiedMatching -DOID:0111902 thrombophilia due to activated protein C resistance oboInOwl:hasDbXref OMIM:188055 semapv:UnspecifiedMatching DOID:0111902 thrombophilia due to activated protein C resistance oboInOwl:hasDbXref UMLS:C1861171 semapv:UnspecifiedMatching -DOID:0111902 thrombophilia due to activated protein C resistance skos:exactMatch OMIM:188055 semapv:UnspecifiedMatching -DOID:0111903 thrombophilia due to HRG deficiency oboInOwl:hasDbXref OMIM:613116 semapv:UnspecifiedMatching DOID:0111903 thrombophilia due to HRG deficiency oboInOwl:hasDbXref ORDO:217467 semapv:UnspecifiedMatching DOID:0111903 thrombophilia due to HRG deficiency oboInOwl:hasDbXref UMLS:C2751090 semapv:UnspecifiedMatching -DOID:0111903 thrombophilia due to HRG deficiency skos:exactMatch OMIM:613116 semapv:UnspecifiedMatching DOID:0111904 autosomal recessive thrombophilia due to protein C deficiency oboInOwl:hasDbXref MESH:C567353 semapv:UnspecifiedMatching -DOID:0111904 autosomal recessive thrombophilia due to protein C deficiency oboInOwl:hasDbXref OMIM:612304 semapv:UnspecifiedMatching DOID:0111904 autosomal recessive thrombophilia due to protein C deficiency oboInOwl:hasDbXref UMLS:C2676759 semapv:UnspecifiedMatching -DOID:0111904 autosomal recessive thrombophilia due to protein C deficiency skos:exactMatch OMIM:612304 semapv:UnspecifiedMatching -DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency oboInOwl:hasDbXref OMIM:614514 semapv:UnspecifiedMatching DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency oboInOwl:hasDbXref ORDO:743 semapv:UnspecifiedMatching DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency oboInOwl:hasDbXref UMLS:C3281092 semapv:UnspecifiedMatching -DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency skos:exactMatch OMIM:614514 semapv:UnspecifiedMatching DOID:0111906 thrombophilia due to decreased release of PLAT oboInOwl:hasDbXref MESH:C567341 semapv:UnspecifiedMatching -DOID:0111906 thrombophilia due to decreased release of PLAT oboInOwl:hasDbXref OMIM:612348 semapv:UnspecifiedMatching DOID:0111906 thrombophilia due to decreased release of PLAT oboInOwl:hasDbXref UMLS:C2676721 semapv:UnspecifiedMatching -DOID:0111906 thrombophilia due to decreased release of PLAT skos:exactMatch OMIM:612348 semapv:UnspecifiedMatching DOID:0111907 thrombophilia due to thrombin defect oboInOwl:hasDbXref GARD:10815 semapv:UnspecifiedMatching -DOID:0111907 thrombophilia due to thrombin defect oboInOwl:hasDbXref OMIM:188050 semapv:UnspecifiedMatching DOID:0111907 thrombophilia due to thrombin defect oboInOwl:hasDbXref UMLS:C3160733 semapv:UnspecifiedMatching -DOID:0111907 thrombophilia due to thrombin defect skos:exactMatch OMIM:188050 semapv:UnspecifiedMatching DOID:0111908 thrombophilia due to thrombomodulin defect oboInOwl:hasDbXref MESH:C566057 semapv:UnspecifiedMatching -DOID:0111908 thrombophilia due to thrombomodulin defect oboInOwl:hasDbXref OMIM:614486 semapv:UnspecifiedMatching DOID:0111908 thrombophilia due to thrombomodulin defect oboInOwl:hasDbXref ORDO:436169 semapv:UnspecifiedMatching DOID:0111908 thrombophilia due to thrombomodulin defect oboInOwl:hasDbXref UMLS:C3280976 semapv:UnspecifiedMatching -DOID:0111908 thrombophilia due to thrombomodulin defect skos:exactMatch OMIM:614486 semapv:UnspecifiedMatching DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency oboInOwl:hasDbXref MESH:C567163 semapv:UnspecifiedMatching -DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency oboInOwl:hasDbXref OMIM:176860 semapv:UnspecifiedMatching DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency oboInOwl:hasDbXref UMLS:C2674321 semapv:UnspecifiedMatching -DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency skos:exactMatch OMIM:176860 semapv:UnspecifiedMatching -DOID:0111910 spermatogenic failure oboInOwl:hasDbXref OMIMPS:258150 semapv:UnspecifiedMatching -DOID:0111910 spermatogenic failure skos:exactMatch OMIMPS:258150 semapv:UnspecifiedMatching -DOID:0111911 spermatogenic failure 34 oboInOwl:hasDbXref OMIM:618153 semapv:UnspecifiedMatching -DOID:0111911 spermatogenic failure 34 skos:exactMatch OMIM:618153 semapv:UnspecifiedMatching -DOID:0111912 spermatogenic failure 41 oboInOwl:hasDbXref OMIM:618670 semapv:UnspecifiedMatching -DOID:0111912 spermatogenic failure 41 skos:exactMatch OMIM:618670 semapv:UnspecifiedMatching -DOID:0111913 spermatogenic failure 30 oboInOwl:hasDbXref OMIM:618110 semapv:UnspecifiedMatching -DOID:0111913 spermatogenic failure 30 skos:exactMatch OMIM:618110 semapv:UnspecifiedMatching -DOID:0111914 spermatogenic failure 35 oboInOwl:hasDbXref OMIM:618341 semapv:UnspecifiedMatching -DOID:0111914 spermatogenic failure 35 skos:exactMatch OMIM:618341 semapv:UnspecifiedMatching -DOID:0111915 spermatogenic failure 33 oboInOwl:hasDbXref OMIM:618152 semapv:UnspecifiedMatching -DOID:0111915 spermatogenic failure 33 skos:exactMatch OMIM:618152 semapv:UnspecifiedMatching -DOID:0111916 spermatogenic failure 28 oboInOwl:hasDbXref OMIM:618086 semapv:UnspecifiedMatching -DOID:0111916 spermatogenic failure 28 skos:exactMatch OMIM:618086 semapv:UnspecifiedMatching -DOID:0111917 spermatogenic failure 43 oboInOwl:hasDbXref OMIM:618751 semapv:UnspecifiedMatching -DOID:0111917 spermatogenic failure 43 skos:exactMatch OMIM:618751 semapv:UnspecifiedMatching -DOID:0111918 spermatogenic failure 40 oboInOwl:hasDbXref OMIM:618664 semapv:UnspecifiedMatching -DOID:0111918 spermatogenic failure 40 skos:exactMatch OMIM:618664 semapv:UnspecifiedMatching -DOID:0111919 spermatogenic failure 38 oboInOwl:hasDbXref OMIM:618433 semapv:UnspecifiedMatching -DOID:0111919 spermatogenic failure 38 skos:exactMatch OMIM:618433 semapv:UnspecifiedMatching -DOID:0111920 spermatogenic failure 25 oboInOwl:hasDbXref OMIM:617960 semapv:UnspecifiedMatching -DOID:0111920 spermatogenic failure 25 skos:exactMatch OMIM:617960 semapv:UnspecifiedMatching -DOID:0111921 spermatogenic failure 36 oboInOwl:hasDbXref OMIM:618420 semapv:UnspecifiedMatching -DOID:0111921 spermatogenic failure 36 skos:exactMatch OMIM:618420 semapv:UnspecifiedMatching -DOID:0111922 spermatogenic failure 31 oboInOwl:hasDbXref OMIM:618112 semapv:UnspecifiedMatching -DOID:0111922 spermatogenic failure 31 skos:exactMatch OMIM:618112 semapv:UnspecifiedMatching -DOID:0111923 spermatogenic failure 42 oboInOwl:hasDbXref OMIM:618745 semapv:UnspecifiedMatching -DOID:0111923 spermatogenic failure 42 skos:exactMatch OMIM:618745 semapv:UnspecifiedMatching -DOID:0111924 spermatogenic failure 26 oboInOwl:hasDbXref OMIM:617961 semapv:UnspecifiedMatching -DOID:0111924 spermatogenic failure 26 skos:exactMatch OMIM:617961 semapv:UnspecifiedMatching -DOID:0111925 spermatogenic failure 32 oboInOwl:hasDbXref OMIM:618115 semapv:UnspecifiedMatching -DOID:0111925 spermatogenic failure 32 skos:exactMatch OMIM:618115 semapv:UnspecifiedMatching -DOID:0111926 spermatogenic failure 39 oboInOwl:hasDbXref OMIM:618643 semapv:UnspecifiedMatching -DOID:0111926 spermatogenic failure 39 skos:exactMatch OMIM:618643 semapv:UnspecifiedMatching -DOID:0111927 spermatogenic failure 37 oboInOwl:hasDbXref OMIM:618429 semapv:UnspecifiedMatching -DOID:0111927 spermatogenic failure 37 skos:exactMatch OMIM:618429 semapv:UnspecifiedMatching -DOID:0111928 spermatogenic failure 27 oboInOwl:hasDbXref OMIM:617965 semapv:UnspecifiedMatching -DOID:0111928 spermatogenic failure 27 skos:exactMatch OMIM:617965 semapv:UnspecifiedMatching -DOID:0111929 spermatogenic failure 24 oboInOwl:hasDbXref OMIM:617959 semapv:UnspecifiedMatching -DOID:0111929 spermatogenic failure 24 skos:exactMatch OMIM:617959 semapv:UnspecifiedMatching -DOID:0111930 spermatogenic failure 29 oboInOwl:hasDbXref OMIM:618091 semapv:UnspecifiedMatching -DOID:0111930 spermatogenic failure 29 skos:exactMatch OMIM:618091 semapv:UnspecifiedMatching DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome oboInOwl:hasDbXref GARD:10295 semapv:UnspecifiedMatching DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome oboInOwl:hasDbXref MESH:C567475 semapv:UnspecifiedMatching -DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome oboInOwl:hasDbXref OMIM:300707 semapv:UnspecifiedMatching DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome oboInOwl:hasDbXref ORDO:140952 semapv:UnspecifiedMatching DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome oboInOwl:hasDbXref UMLS:C2678045 semapv:UnspecifiedMatching -DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:exactMatch OMIM:300707 semapv:UnspecifiedMatching DOID:0111932 severe congenital encephalopathy due to MECP2 mutation oboInOwl:hasDbXref MESH:C566878 semapv:UnspecifiedMatching DOID:0111932 severe congenital encephalopathy due to MECP2 mutation oboInOwl:hasDbXref NCI:C132293 semapv:UnspecifiedMatching -DOID:0111932 severe congenital encephalopathy due to MECP2 mutation oboInOwl:hasDbXref OMIM:300673 semapv:UnspecifiedMatching DOID:0111932 severe congenital encephalopathy due to MECP2 mutation oboInOwl:hasDbXref ORDO:209370 semapv:UnspecifiedMatching DOID:0111932 severe congenital encephalopathy due to MECP2 mutation oboInOwl:hasDbXref UMLS:C1968556 semapv:UnspecifiedMatching -DOID:0111932 severe congenital encephalopathy due to MECP2 mutation skos:exactMatch OMIM:300673 semapv:UnspecifiedMatching DOID:0111933 phosphoglycerate kinase 1 deficiency oboInOwl:hasDbXref GARD:7389 semapv:UnspecifiedMatching DOID:0111933 phosphoglycerate kinase 1 deficiency oboInOwl:hasDbXref MESH:C567067 semapv:UnspecifiedMatching DOID:0111933 phosphoglycerate kinase 1 deficiency oboInOwl:hasDbXref NCI:C126738 semapv:UnspecifiedMatching -DOID:0111933 phosphoglycerate kinase 1 deficiency oboInOwl:hasDbXref OMIM:300653 semapv:UnspecifiedMatching DOID:0111933 phosphoglycerate kinase 1 deficiency oboInOwl:hasDbXref ORDO:713 semapv:UnspecifiedMatching DOID:0111933 phosphoglycerate kinase 1 deficiency oboInOwl:hasDbXref UMLS:C1970848 semapv:UnspecifiedMatching -DOID:0111933 phosphoglycerate kinase 1 deficiency skos:exactMatch OMIM:300653 semapv:UnspecifiedMatching -DOID:0111934 immunodeficiency 38 oboInOwl:hasDbXref OMIM:616126 semapv:UnspecifiedMatching DOID:0111934 immunodeficiency 38 oboInOwl:hasDbXref ORDO:319563 semapv:UnspecifiedMatching -DOID:0111934 immunodeficiency 38 skos:exactMatch OMIM:616126 semapv:UnspecifiedMatching -DOID:0111935 immunodeficiency 16 oboInOwl:hasDbXref OMIM:615593 semapv:UnspecifiedMatching DOID:0111935 immunodeficiency 16 oboInOwl:hasDbXref ORDO:431149 semapv:UnspecifiedMatching DOID:0111935 immunodeficiency 16 oboInOwl:hasDbXref UMLS:C3810053 semapv:UnspecifiedMatching -DOID:0111935 immunodeficiency 16 skos:exactMatch OMIM:615593 semapv:UnspecifiedMatching DOID:0111936 immunodeficiency 14 oboInOwl:hasDbXref GARD:11983 semapv:UnspecifiedMatching DOID:0111936 immunodeficiency 14 oboInOwl:hasDbXref MESH:C585640 semapv:UnspecifiedMatching DOID:0111936 immunodeficiency 14 oboInOwl:hasDbXref NCI:C187988 semapv:UnspecifiedMatching -DOID:0111936 immunodeficiency 14 oboInOwl:hasDbXref OMIM:615513 semapv:UnspecifiedMatching DOID:0111936 immunodeficiency 14 oboInOwl:hasDbXref ORDO:397596 semapv:UnspecifiedMatching DOID:0111936 immunodeficiency 14 oboInOwl:hasDbXref UMLS:C3714976 semapv:UnspecifiedMatching -DOID:0111936 immunodeficiency 14 skos:exactMatch OMIM:615513 semapv:UnspecifiedMatching DOID:0111937 immunodeficiency 22 oboInOwl:hasDbXref NCI:C176808 semapv:UnspecifiedMatching -DOID:0111937 immunodeficiency 22 oboInOwl:hasDbXref OMIM:615758 semapv:UnspecifiedMatching DOID:0111937 immunodeficiency 22 oboInOwl:hasDbXref ORDO:280142 semapv:UnspecifiedMatching DOID:0111937 immunodeficiency 22 oboInOwl:hasDbXref UMLS:C4014233 semapv:UnspecifiedMatching -DOID:0111937 immunodeficiency 22 skos:exactMatch OMIM:615758 semapv:UnspecifiedMatching -DOID:0111938 immunodeficiency 24 oboInOwl:hasDbXref OMIM:615897 semapv:UnspecifiedMatching DOID:0111938 immunodeficiency 24 oboInOwl:hasDbXref ORDO:420573 semapv:UnspecifiedMatching DOID:0111938 immunodeficiency 24 oboInOwl:hasDbXref UMLS:C4014617 semapv:UnspecifiedMatching -DOID:0111938 immunodeficiency 24 skos:exactMatch OMIM:615897 semapv:UnspecifiedMatching -DOID:0111939 immunodeficiency 37 oboInOwl:hasDbXref OMIM:616098 semapv:UnspecifiedMatching DOID:0111939 immunodeficiency 37 oboInOwl:hasDbXref UMLS:C4015195 semapv:UnspecifiedMatching -DOID:0111939 immunodeficiency 37 skos:exactMatch OMIM:616098 semapv:UnspecifiedMatching -DOID:0111940 immunodeficiency 42 oboInOwl:hasDbXref OMIM:616622 semapv:UnspecifiedMatching DOID:0111940 immunodeficiency 42 oboInOwl:hasDbXref ORDO:477857 semapv:UnspecifiedMatching -DOID:0111940 immunodeficiency 42 skos:exactMatch OMIM:616622 semapv:UnspecifiedMatching -DOID:0111941 immunodeficiency 20 oboInOwl:hasDbXref OMIM:615707 semapv:UnspecifiedMatching DOID:0111941 immunodeficiency 20 oboInOwl:hasDbXref ORDO:437552 semapv:UnspecifiedMatching -DOID:0111941 immunodeficiency 20 skos:exactMatch OMIM:615707 semapv:UnspecifiedMatching DOID:0111942 immunodeficiency 25 oboInOwl:hasDbXref MESH:C565712 semapv:UnspecifiedMatching -DOID:0111942 immunodeficiency 25 oboInOwl:hasDbXref OMIM:610163 semapv:UnspecifiedMatching DOID:0111942 immunodeficiency 25 oboInOwl:hasDbXref UMLS:C1857798 semapv:UnspecifiedMatching -DOID:0111942 immunodeficiency 25 skos:exactMatch OMIM:610163 semapv:UnspecifiedMatching DOID:0111943 immunodeficiency 48 oboInOwl:hasDbXref GARD:387 semapv:UnspecifiedMatching DOID:0111943 immunodeficiency 48 oboInOwl:hasDbXref MESH:C537590 semapv:UnspecifiedMatching -DOID:0111943 immunodeficiency 48 oboInOwl:hasDbXref OMIM:269840 semapv:UnspecifiedMatching DOID:0111943 immunodeficiency 48 oboInOwl:hasDbXref ORDO:911 semapv:UnspecifiedMatching DOID:0111943 immunodeficiency 48 oboInOwl:hasDbXref UMLS:C1849236 semapv:UnspecifiedMatching -DOID:0111943 immunodeficiency 48 skos:exactMatch OMIM:269840 semapv:UnspecifiedMatching -DOID:0111944 immunodeficiency 31B oboInOwl:hasDbXref OMIM:613796 semapv:UnspecifiedMatching DOID:0111944 immunodeficiency 31B oboInOwl:hasDbXref ORDO:391311 semapv:UnspecifiedMatching -DOID:0111944 immunodeficiency 31B skos:exactMatch OMIM:613796 semapv:UnspecifiedMatching -DOID:0111945 immunodeficiency 31A oboInOwl:hasDbXref OMIM:614892 semapv:UnspecifiedMatching DOID:0111945 immunodeficiency 31A oboInOwl:hasDbXref ORDO:319595 semapv:UnspecifiedMatching -DOID:0111945 immunodeficiency 31A skos:exactMatch OMIM:614892 semapv:UnspecifiedMatching -DOID:0111946 immunodeficiency 31C oboInOwl:hasDbXref OMIM:614162 semapv:UnspecifiedMatching DOID:0111946 immunodeficiency 31C oboInOwl:hasDbXref ORDO:391487 semapv:UnspecifiedMatching -DOID:0111946 immunodeficiency 31C skos:exactMatch OMIM:614162 semapv:UnspecifiedMatching DOID:0111947 immunodeficiency 21 oboInOwl:hasDbXref GARD:10934 semapv:UnspecifiedMatching DOID:0111947 immunodeficiency 21 oboInOwl:hasDbXref MESH:D000077428 semapv:UnspecifiedMatching DOID:0111947 immunodeficiency 21 oboInOwl:hasDbXref NCI:C126349 semapv:UnspecifiedMatching -DOID:0111947 immunodeficiency 21 oboInOwl:hasDbXref OMIM:614172 semapv:UnspecifiedMatching DOID:0111947 immunodeficiency 21 oboInOwl:hasDbXref ORDO:228423 semapv:UnspecifiedMatching -DOID:0111947 immunodeficiency 21 skos:exactMatch OMIM:614172 semapv:UnspecifiedMatching -DOID:0111948 immunodeficiency 46 oboInOwl:hasDbXref OMIM:616740 semapv:UnspecifiedMatching DOID:0111948 immunodeficiency 46 oboInOwl:hasDbXref ORDO:476113 semapv:UnspecifiedMatching DOID:0111948 immunodeficiency 46 oboInOwl:hasDbXref UMLS:C5568133 semapv:UnspecifiedMatching -DOID:0111948 immunodeficiency 46 skos:exactMatch OMIM:616740 semapv:UnspecifiedMatching DOID:0111949 immunodeficiency 36 oboInOwl:hasDbXref NCI:C176703 semapv:UnspecifiedMatching -DOID:0111949 immunodeficiency 36 oboInOwl:hasDbXref OMIM:616005 semapv:UnspecifiedMatching DOID:0111949 immunodeficiency 36 oboInOwl:hasDbXref UMLS:C4014934 semapv:UnspecifiedMatching -DOID:0111949 immunodeficiency 36 skos:exactMatch OMIM:616005 semapv:UnspecifiedMatching -DOID:0111950 immunodeficiency 29 oboInOwl:hasDbXref OMIM:614890 semapv:UnspecifiedMatching DOID:0111950 immunodeficiency 29 oboInOwl:hasDbXref ORDO:319558 semapv:UnspecifiedMatching -DOID:0111950 immunodeficiency 29 skos:exactMatch OMIM:614890 semapv:UnspecifiedMatching DOID:0111951 immunodeficiency 40 oboInOwl:hasDbXref GARD:12653 semapv:UnspecifiedMatching DOID:0111951 immunodeficiency 40 oboInOwl:hasDbXref NCI:C176799 semapv:UnspecifiedMatching -DOID:0111951 immunodeficiency 40 oboInOwl:hasDbXref OMIM:616433 semapv:UnspecifiedMatching DOID:0111951 immunodeficiency 40 oboInOwl:hasDbXref ORDO:447737 semapv:UnspecifiedMatching DOID:0111951 immunodeficiency 40 oboInOwl:hasDbXref UMLS:C4225328 semapv:UnspecifiedMatching -DOID:0111951 immunodeficiency 40 skos:exactMatch OMIM:616433 semapv:UnspecifiedMatching -DOID:0111952 immunodeficiency 57 oboInOwl:hasDbXref OMIM:618108 semapv:UnspecifiedMatching DOID:0111952 immunodeficiency 57 oboInOwl:hasDbXref ORDO:529977 semapv:UnspecifiedMatching -DOID:0111952 immunodeficiency 57 skos:exactMatch OMIM:618108 semapv:UnspecifiedMatching DOID:0111953 immunodeficiency 23 oboInOwl:hasDbXref GARD:4331 semapv:UnspecifiedMatching DOID:0111953 immunodeficiency 23 oboInOwl:hasDbXref NCI:C126339 semapv:UnspecifiedMatching -DOID:0111953 immunodeficiency 23 oboInOwl:hasDbXref OMIM:615816 semapv:UnspecifiedMatching DOID:0111953 immunodeficiency 23 oboInOwl:hasDbXref ORDO:443811 semapv:UnspecifiedMatching DOID:0111953 immunodeficiency 23 oboInOwl:hasDbXref UMLS:C4014371 semapv:UnspecifiedMatching -DOID:0111953 immunodeficiency 23 skos:exactMatch OMIM:615816 semapv:UnspecifiedMatching -DOID:0111954 immunodeficiency 60 oboInOwl:hasDbXref OMIM:618394 semapv:UnspecifiedMatching DOID:0111954 immunodeficiency 60 oboInOwl:hasDbXref UMLS:C5193072 semapv:UnspecifiedMatching -DOID:0111954 immunodeficiency 60 skos:exactMatch OMIM:618394 semapv:UnspecifiedMatching DOID:0111955 immunodeficiency 27A oboInOwl:hasDbXref MESH:C535530 semapv:UnspecifiedMatching -DOID:0111955 immunodeficiency 27A oboInOwl:hasDbXref OMIM:209950 semapv:UnspecifiedMatching DOID:0111955 immunodeficiency 27A oboInOwl:hasDbXref ORDO:319569 semapv:UnspecifiedMatching -DOID:0111955 immunodeficiency 27A skos:exactMatch OMIM:209950 semapv:UnspecifiedMatching -DOID:0111956 immunodeficiency 27B oboInOwl:hasDbXref OMIM:615978 semapv:UnspecifiedMatching DOID:0111956 immunodeficiency 27B oboInOwl:hasDbXref ORDO:319581 semapv:UnspecifiedMatching -DOID:0111956 immunodeficiency 27B skos:exactMatch OMIM:615978 semapv:UnspecifiedMatching -DOID:0111957 immunodeficiency 11A oboInOwl:hasDbXref OMIM:615206 semapv:UnspecifiedMatching DOID:0111957 immunodeficiency 11A oboInOwl:hasDbXref ORDO:357237 semapv:UnspecifiedMatching DOID:0111957 immunodeficiency 11A oboInOwl:hasDbXref UMLS:C3554686 semapv:UnspecifiedMatching -DOID:0111957 immunodeficiency 11A skos:exactMatch OMIM:615206 semapv:UnspecifiedMatching DOID:0111958 immunodeficiency 11B oboInOwl:hasDbXref NCI:C176630 semapv:UnspecifiedMatching -DOID:0111958 immunodeficiency 11B oboInOwl:hasDbXref OMIM:617638 semapv:UnspecifiedMatching DOID:0111958 immunodeficiency 11B oboInOwl:hasDbXref UMLS:C4539957 semapv:UnspecifiedMatching -DOID:0111958 immunodeficiency 11B skos:exactMatch OMIM:617638 semapv:UnspecifiedMatching -DOID:0111959 immunodeficiency 15B oboInOwl:hasDbXref OMIM:615592 semapv:UnspecifiedMatching DOID:0111959 immunodeficiency 15B oboInOwl:hasDbXref UMLS:C4747743 semapv:UnspecifiedMatching -DOID:0111959 immunodeficiency 15B skos:exactMatch OMIM:615592 semapv:UnspecifiedMatching -DOID:0111960 immunodeficiency 15A oboInOwl:hasDbXref OMIM:618204 semapv:UnspecifiedMatching DOID:0111960 immunodeficiency 15A oboInOwl:hasDbXref UMLS:C4748694 semapv:UnspecifiedMatching -DOID:0111960 immunodeficiency 15A skos:exactMatch OMIM:618204 semapv:UnspecifiedMatching DOID:0111961 immunodeficiency 26 oboInOwl:hasDbXref NCI:C176795 semapv:UnspecifiedMatching -DOID:0111961 immunodeficiency 26 oboInOwl:hasDbXref OMIM:615966 semapv:UnspecifiedMatching DOID:0111961 immunodeficiency 26 oboInOwl:hasDbXref ORDO:317425 semapv:UnspecifiedMatching DOID:0111961 immunodeficiency 26 oboInOwl:hasDbXref UMLS:C4014833 semapv:UnspecifiedMatching -DOID:0111961 immunodeficiency 26 skos:exactMatch OMIM:615966 semapv:UnspecifiedMatching DOID:0111962 combined immunodeficiency oboInOwl:hasDbXref NCI:C27871 semapv:UnspecifiedMatching DOID:0111967 immunodeficiency 54 oboInOwl:hasDbXref MESH:C566492 semapv:UnspecifiedMatching DOID:0111967 immunodeficiency 54 oboInOwl:hasDbXref NCI:C123729 semapv:UnspecifiedMatching -DOID:0111967 immunodeficiency 54 oboInOwl:hasDbXref OMIM:609981 semapv:UnspecifiedMatching DOID:0111967 immunodeficiency 54 oboInOwl:hasDbXref ORDO:75391 semapv:UnspecifiedMatching DOID:0111967 immunodeficiency 54 oboInOwl:hasDbXref UMLS:C1864947 semapv:UnspecifiedMatching -DOID:0111967 immunodeficiency 54 skos:exactMatch OMIM:609981 semapv:UnspecifiedMatching DOID:0111968 immunodeficiency 41 oboInOwl:hasDbXref MESH:C565232 semapv:UnspecifiedMatching -DOID:0111968 immunodeficiency 41 oboInOwl:hasDbXref OMIM:606367 semapv:UnspecifiedMatching DOID:0111968 immunodeficiency 41 oboInOwl:hasDbXref ORDO:169100 semapv:UnspecifiedMatching -DOID:0111968 immunodeficiency 41 skos:exactMatch OMIM:606367 semapv:UnspecifiedMatching -DOID:0111969 immunodeficiency 39 oboInOwl:hasDbXref OMIM:616345 semapv:UnspecifiedMatching -DOID:0111969 immunodeficiency 39 skos:exactMatch OMIM:616345 semapv:UnspecifiedMatching DOID:0111970 immunodeficiency 10 oboInOwl:hasDbXref MESH:C557827 semapv:UnspecifiedMatching -DOID:0111970 immunodeficiency 10 oboInOwl:hasDbXref OMIM:612783 semapv:UnspecifiedMatching DOID:0111970 immunodeficiency 10 oboInOwl:hasDbXref ORDO:317430 semapv:UnspecifiedMatching DOID:0111970 immunodeficiency 10 oboInOwl:hasDbXref UMLS:C2748557 semapv:UnspecifiedMatching -DOID:0111970 immunodeficiency 10 skos:exactMatch OMIM:612783 semapv:UnspecifiedMatching -DOID:0111971 immunodeficiency 18 oboInOwl:hasDbXref OMIM:615615 semapv:UnspecifiedMatching -DOID:0111971 immunodeficiency 18 skos:exactMatch OMIM:615615 semapv:UnspecifiedMatching -DOID:0111972 immunodeficiency 19 oboInOwl:hasDbXref OMIM:615617 semapv:UnspecifiedMatching DOID:0111972 immunodeficiency 19 oboInOwl:hasDbXref UMLS:C3810147 semapv:UnspecifiedMatching -DOID:0111972 immunodeficiency 19 skos:exactMatch OMIM:615617 semapv:UnspecifiedMatching -DOID:0111973 immunodeficiency 17 oboInOwl:hasDbXref OMIM:615607 semapv:UnspecifiedMatching DOID:0111973 immunodeficiency 17 oboInOwl:hasDbXref UMLS:C3810107 semapv:UnspecifiedMatching -DOID:0111973 immunodeficiency 17 skos:exactMatch OMIM:615607 semapv:UnspecifiedMatching DOID:0111974 immunodeficiency 59 oboInOwl:hasDbXref MESH:C565535 semapv:UnspecifiedMatching -DOID:0111974 immunodeficiency 59 oboInOwl:hasDbXref OMIM:233600 semapv:UnspecifiedMatching DOID:0111974 immunodeficiency 59 oboInOwl:hasDbXref UMLS:C1856263 semapv:UnspecifiedMatching -DOID:0111974 immunodeficiency 59 skos:exactMatch OMIM:233600 semapv:UnspecifiedMatching -DOID:0111975 immunodeficiency 44 oboInOwl:hasDbXref OMIM:616636 semapv:UnspecifiedMatching -DOID:0111975 immunodeficiency 44 skos:exactMatch OMIM:616636 semapv:UnspecifiedMatching DOID:0111976 immunodeficiency 9 oboInOwl:hasDbXref MESH:C557826 semapv:UnspecifiedMatching -DOID:0111976 immunodeficiency 9 oboInOwl:hasDbXref OMIM:612782 semapv:UnspecifiedMatching DOID:0111976 immunodeficiency 9 oboInOwl:hasDbXref ORDO:317428 semapv:UnspecifiedMatching DOID:0111976 immunodeficiency 9 oboInOwl:hasDbXref UMLS:C2748568 semapv:UnspecifiedMatching -DOID:0111976 immunodeficiency 9 skos:exactMatch OMIM:612782 semapv:UnspecifiedMatching -DOID:0111977 immunodeficiency 7 oboInOwl:hasDbXref OMIM:615387 semapv:UnspecifiedMatching DOID:0111977 immunodeficiency 7 oboInOwl:hasDbXref ORDO:397959 semapv:UnspecifiedMatching DOID:0111977 immunodeficiency 7 oboInOwl:hasDbXref UMLS:C3809332 semapv:UnspecifiedMatching -DOID:0111977 immunodeficiency 7 skos:exactMatch OMIM:615387 semapv:UnspecifiedMatching -DOID:0111978 immunodeficiency 65 oboInOwl:hasDbXref OMIM:618648 semapv:UnspecifiedMatching -DOID:0111978 immunodeficiency 65 skos:exactMatch OMIM:618648 semapv:UnspecifiedMatching -DOID:0111979 immunodeficiency 49 oboInOwl:hasDbXref OMIM:617237 semapv:UnspecifiedMatching DOID:0111979 immunodeficiency 49 oboInOwl:hasDbXref UMLS:C4310656 semapv:UnspecifiedMatching -DOID:0111979 immunodeficiency 49 skos:exactMatch OMIM:617237 semapv:UnspecifiedMatching -DOID:0111980 immunodeficiency 64 oboInOwl:hasDbXref OMIM:618534 semapv:UnspecifiedMatching -DOID:0111980 immunodeficiency 64 skos:exactMatch OMIM:618534 semapv:UnspecifiedMatching DOID:0111981 immunodeficiency 43 oboInOwl:hasDbXref MESH:C565476 semapv:UnspecifiedMatching -DOID:0111981 immunodeficiency 43 oboInOwl:hasDbXref OMIM:241600 semapv:UnspecifiedMatching -DOID:0111981 immunodeficiency 43 skos:exactMatch OMIM:241600 semapv:UnspecifiedMatching -DOID:0111982 immunodeficiency 56 oboInOwl:hasDbXref OMIM:615207 semapv:UnspecifiedMatching DOID:0111982 immunodeficiency 56 oboInOwl:hasDbXref ORDO:357329 semapv:UnspecifiedMatching DOID:0111982 immunodeficiency 56 oboInOwl:hasDbXref UMLS:C3554687 semapv:UnspecifiedMatching -DOID:0111982 immunodeficiency 56 skos:exactMatch OMIM:615207 semapv:UnspecifiedMatching -DOID:0111983 immunodeficiency 52 oboInOwl:hasDbXref OMIM:617514 semapv:UnspecifiedMatching DOID:0111983 immunodeficiency 52 oboInOwl:hasDbXref ORDO:504523 semapv:UnspecifiedMatching DOID:0111983 immunodeficiency 52 oboInOwl:hasDbXref UMLS:C4479588 semapv:UnspecifiedMatching -DOID:0111983 immunodeficiency 52 skos:exactMatch OMIM:617514 semapv:UnspecifiedMatching -DOID:0111984 immunodeficiency 58 oboInOwl:hasDbXref OMIM:618131 semapv:UnspecifiedMatching DOID:0111984 immunodeficiency 58 oboInOwl:hasDbXref ORDO:542301 semapv:UnspecifiedMatching DOID:0111984 immunodeficiency 58 oboInOwl:hasDbXref UMLS:C4748304 semapv:UnspecifiedMatching -DOID:0111984 immunodeficiency 58 skos:exactMatch OMIM:618131 semapv:UnspecifiedMatching -DOID:0111985 immunodeficiency 32B oboInOwl:hasDbXref OMIM:226990 semapv:UnspecifiedMatching DOID:0111985 immunodeficiency 32B oboInOwl:hasDbXref UMLS:C4016741 semapv:UnspecifiedMatching -DOID:0111985 immunodeficiency 32B skos:exactMatch OMIM:226990 semapv:UnspecifiedMatching -DOID:0111986 immunodeficiency 32A oboInOwl:hasDbXref OMIM:614893 semapv:UnspecifiedMatching DOID:0111986 immunodeficiency 32A oboInOwl:hasDbXref ORDO:319600 semapv:UnspecifiedMatching DOID:0111986 immunodeficiency 32A oboInOwl:hasDbXref UMLS:C3808589 semapv:UnspecifiedMatching -DOID:0111986 immunodeficiency 32A skos:exactMatch OMIM:614893 semapv:UnspecifiedMatching DOID:0111987 immunodeficiency 13 oboInOwl:hasDbXref GARD:12375 semapv:UnspecifiedMatching -DOID:0111987 immunodeficiency 13 oboInOwl:hasDbXref OMIM:615518 semapv:UnspecifiedMatching DOID:0111987 immunodeficiency 13 oboInOwl:hasDbXref ORDO:228000 semapv:UnspecifiedMatching DOID:0111987 immunodeficiency 13 oboInOwl:hasDbXref UMLS:C3809768 semapv:UnspecifiedMatching -DOID:0111987 immunodeficiency 13 skos:exactMatch OMIM:615518 semapv:UnspecifiedMatching -DOID:0111988 immunodeficiency 12 oboInOwl:hasDbXref OMIM:615468 semapv:UnspecifiedMatching DOID:0111988 immunodeficiency 12 oboInOwl:hasDbXref ORDO:397964 semapv:UnspecifiedMatching -DOID:0111988 immunodeficiency 12 skos:exactMatch OMIM:615468 semapv:UnspecifiedMatching DOID:0111989 immunodeficiency 35 oboInOwl:hasDbXref MESH:C566928 semapv:UnspecifiedMatching -DOID:0111989 immunodeficiency 35 oboInOwl:hasDbXref OMIM:611521 semapv:UnspecifiedMatching DOID:0111989 immunodeficiency 35 oboInOwl:hasDbXref ORDO:331226 semapv:UnspecifiedMatching -DOID:0111989 immunodeficiency 35 skos:exactMatch OMIM:611521 semapv:UnspecifiedMatching DOID:0111990 immunodeficiency 30 oboInOwl:hasDbXref NCI:C176800 semapv:UnspecifiedMatching -DOID:0111990 immunodeficiency 30 oboInOwl:hasDbXref OMIM:614891 semapv:UnspecifiedMatching DOID:0111990 immunodeficiency 30 oboInOwl:hasDbXref ORDO:319552 semapv:UnspecifiedMatching DOID:0111990 immunodeficiency 30 oboInOwl:hasDbXref UMLS:C4013949 semapv:UnspecifiedMatching -DOID:0111990 immunodeficiency 30 skos:exactMatch OMIM:614891 semapv:UnspecifiedMatching -DOID:0111991 immunodeficiency 62 oboInOwl:hasDbXref OMIM:618459 semapv:UnspecifiedMatching DOID:0111991 immunodeficiency 62 oboInOwl:hasDbXref UMLS:C5193109 semapv:UnspecifiedMatching -DOID:0111991 immunodeficiency 62 skos:exactMatch OMIM:618459 semapv:UnspecifiedMatching -DOID:0111992 immunodeficiency 53 oboInOwl:hasDbXref OMIM:617585 semapv:UnspecifiedMatching DOID:0111992 immunodeficiency 53 oboInOwl:hasDbXref UMLS:C4539811 semapv:UnspecifiedMatching -DOID:0111992 immunodeficiency 53 skos:exactMatch OMIM:617585 semapv:UnspecifiedMatching -DOID:0111993 immunodeficiency 55 oboInOwl:hasDbXref OMIM:617827 semapv:UnspecifiedMatching DOID:0111993 immunodeficiency 55 oboInOwl:hasDbXref ORDO:505227 semapv:UnspecifiedMatching -DOID:0111993 immunodeficiency 55 skos:exactMatch OMIM:617827 semapv:UnspecifiedMatching -DOID:0111994 immunodeficiency 45 oboInOwl:hasDbXref OMIM:616669 semapv:UnspecifiedMatching -DOID:0111994 immunodeficiency 45 skos:exactMatch OMIM:616669 semapv:UnspecifiedMatching -DOID:0111995 immunodeficiency 28 oboInOwl:hasDbXref OMIM:614889 semapv:UnspecifiedMatching DOID:0111995 immunodeficiency 28 oboInOwl:hasDbXref ORDO:319547 semapv:UnspecifiedMatching -DOID:0111995 immunodeficiency 28 skos:exactMatch OMIM:614889 semapv:UnspecifiedMatching -DOID:0111996 immunodeficiency 51 oboInOwl:hasDbXref OMIM:613953 semapv:UnspecifiedMatching -DOID:0111996 immunodeficiency 51 skos:exactMatch OMIM:613953 semapv:UnspecifiedMatching -DOID:0111997 immunodeficiency 63 oboInOwl:hasDbXref OMIM:618495 semapv:UnspecifiedMatching DOID:0111997 immunodeficiency 63 oboInOwl:hasDbXref UMLS:C5193126 semapv:UnspecifiedMatching -DOID:0111997 immunodeficiency 63 skos:exactMatch OMIM:618495 semapv:UnspecifiedMatching -DOID:0111998 immunodeficiency 66 oboInOwl:hasDbXref OMIM:618847 semapv:UnspecifiedMatching -DOID:0111998 immunodeficiency 66 skos:exactMatch OMIM:618847 semapv:UnspecifiedMatching DOID:0111999 immunodeficiency 61 oboInOwl:hasDbXref MESH:C538057 semapv:UnspecifiedMatching -DOID:0111999 immunodeficiency 61 oboInOwl:hasDbXref OMIM:300310 semapv:UnspecifiedMatching DOID:0111999 immunodeficiency 61 oboInOwl:hasDbXref UMLS:C1845903 semapv:UnspecifiedMatching -DOID:0111999 immunodeficiency 61 skos:exactMatch OMIM:300310 semapv:UnspecifiedMatching DOID:0112000 immunodeficiency 34 oboInOwl:hasDbXref MESH:C567068 semapv:UnspecifiedMatching -DOID:0112000 immunodeficiency 34 oboInOwl:hasDbXref OMIM:300645 semapv:UnspecifiedMatching DOID:0112000 immunodeficiency 34 oboInOwl:hasDbXref UMLS:C1970859 semapv:UnspecifiedMatching -DOID:0112000 immunodeficiency 34 skos:exactMatch OMIM:300645 semapv:UnspecifiedMatching -DOID:0112001 immunodeficiency 50 oboInOwl:hasDbXref OMIM:300988 semapv:UnspecifiedMatching DOID:0112001 immunodeficiency 50 oboInOwl:hasDbXref ORDO:504530 semapv:UnspecifiedMatching -DOID:0112001 immunodeficiency 50 skos:exactMatch OMIM:300988 semapv:UnspecifiedMatching -DOID:0112002 immunodeficiency 47 oboInOwl:hasDbXref OMIM:300972 semapv:UnspecifiedMatching DOID:0112002 immunodeficiency 47 oboInOwl:hasDbXref UMLS:C4310819 semapv:UnspecifiedMatching -DOID:0112002 immunodeficiency 47 skos:exactMatch OMIM:300972 semapv:UnspecifiedMatching DOID:0112003 immunodeficiency 33 oboInOwl:hasDbXref MESH:C567070 semapv:UnspecifiedMatching -DOID:0112003 immunodeficiency 33 oboInOwl:hasDbXref OMIM:300636 semapv:UnspecifiedMatching -DOID:0112003 immunodeficiency 33 skos:exactMatch OMIM:300636 semapv:UnspecifiedMatching -DOID:0112004 immunodeficiency 71 oboInOwl:hasDbXref OMIM:617718 semapv:UnspecifiedMatching -DOID:0112004 immunodeficiency 71 skos:exactMatch OMIM:617718 semapv:UnspecifiedMatching -DOID:0112005 immunodeficiency 70 oboInOwl:hasDbXref OMIM:618969 semapv:UnspecifiedMatching -DOID:0112005 immunodeficiency 70 skos:exactMatch OMIM:618969 semapv:UnspecifiedMatching -DOID:0112006 immunodeficiency 69 oboInOwl:hasDbXref OMIM:618963 semapv:UnspecifiedMatching -DOID:0112006 immunodeficiency 69 skos:exactMatch OMIM:618963 semapv:UnspecifiedMatching -DOID:0112007 growth hormone secreting pituitary adenoma 2 oboInOwl:hasDbXref OMIM:300943 semapv:UnspecifiedMatching -DOID:0112007 growth hormone secreting pituitary adenoma 2 skos:exactMatch OMIM:300943 semapv:UnspecifiedMatching -DOID:0112008 pituitary adenoma 5 oboInOwl:hasDbXref OMIM:617540 semapv:UnspecifiedMatching -DOID:0112008 pituitary adenoma 5 skos:exactMatch OMIM:617540 semapv:UnspecifiedMatching -DOID:0112009 pituitary adenoma 1 oboInOwl:hasDbXref OMIM:102200 semapv:UnspecifiedMatching -DOID:0112009 pituitary adenoma 1 skos:exactMatch OMIM:102200 semapv:UnspecifiedMatching -DOID:0112010 pituitary adenoma 3 oboInOwl:hasDbXref OMIM:617686 semapv:UnspecifiedMatching -DOID:0112010 pituitary adenoma 3 skos:exactMatch OMIM:617686 semapv:UnspecifiedMatching DOID:0112011 mutilating palmoplantar keratoderma with periorificial keratotic plaques oboInOwl:hasDbXref GARD:4075 semapv:UnspecifiedMatching DOID:0112011 mutilating palmoplantar keratoderma with periorificial keratotic plaques oboInOwl:hasDbXref MEDDRA:10068842 semapv:UnspecifiedMatching DOID:0112011 mutilating palmoplantar keratoderma with periorificial keratotic plaques oboInOwl:hasDbXref ORDO:659 semapv:UnspecifiedMatching -DOID:0112012 X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques oboInOwl:hasDbXref OMIM:300918 semapv:UnspecifiedMatching -DOID:0112012 X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques skos:exactMatch OMIM:300918 semapv:UnspecifiedMatching -DOID:0112013 autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques oboInOwl:hasDbXref OMIM:614594 semapv:UnspecifiedMatching -DOID:0112013 autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques skos:exactMatch OMIM:614594 semapv:UnspecifiedMatching -DOID:0112014 congenital megabladder oboInOwl:hasDbXref OMIM:618719 semapv:UnspecifiedMatching -DOID:0112014 congenital megabladder skos:exactMatch OMIM:618719 semapv:UnspecifiedMatching -DOID:0112015 immunodeficiency 72 oboInOwl:hasDbXref OMIM:618982 semapv:UnspecifiedMatching -DOID:0112015 immunodeficiency 72 skos:exactMatch OMIM:618982 semapv:UnspecifiedMatching -DOID:0112016 non-syndromic X-linked intellectual disability 2 oboInOwl:hasDbXref OMIM:300428 semapv:UnspecifiedMatching -DOID:0112016 non-syndromic X-linked intellectual disability 2 skos:exactMatch OMIM:300428 semapv:UnspecifiedMatching -DOID:0112017 non-syndromic X-linked intellectual disability 73 oboInOwl:hasDbXref OMIM:300355 semapv:UnspecifiedMatching -DOID:0112017 non-syndromic X-linked intellectual disability 73 skos:exactMatch OMIM:300355 semapv:UnspecifiedMatching -DOID:0112018 non-syndromic X-linked intellectual disability 104 oboInOwl:hasDbXref OMIM:300983 semapv:UnspecifiedMatching -DOID:0112018 non-syndromic X-linked intellectual disability 104 skos:exactMatch OMIM:300983 semapv:UnspecifiedMatching -DOID:0112019 non-syndromic X-linked intellectual disability 19 oboInOwl:hasDbXref OMIM:300844 semapv:UnspecifiedMatching -DOID:0112019 non-syndromic X-linked intellectual disability 19 skos:exactMatch OMIM:300844 semapv:UnspecifiedMatching -DOID:0112020 non-syndromic X-linked intellectual disability 103 oboInOwl:hasDbXref OMIM:300982 semapv:UnspecifiedMatching -DOID:0112020 non-syndromic X-linked intellectual disability 103 skos:exactMatch OMIM:300982 semapv:UnspecifiedMatching DOID:0112021 non-syndromic X-linked intellectual disability ARX-related oboInOwl:hasDbXref GARD:5614 semapv:UnspecifiedMatching -DOID:0112021 non-syndromic X-linked intellectual disability ARX-related oboInOwl:hasDbXref OMIM:300419 semapv:UnspecifiedMatching -DOID:0112021 non-syndromic X-linked intellectual disability ARX-related skos:exactMatch OMIM:300419 semapv:UnspecifiedMatching -DOID:0112022 non-syndromic X-linked intellectual disability 21 oboInOwl:hasDbXref OMIM:300143 semapv:UnspecifiedMatching -DOID:0112022 non-syndromic X-linked intellectual disability 21 skos:exactMatch OMIM:300143 semapv:UnspecifiedMatching -DOID:0112023 non-syndromic X-linked intellectual disability 20 oboInOwl:hasDbXref OMIM:300047 semapv:UnspecifiedMatching -DOID:0112023 non-syndromic X-linked intellectual disability 20 skos:exactMatch OMIM:300047 semapv:UnspecifiedMatching -DOID:0112024 non-syndromic X-linked intellectual disability 58 oboInOwl:hasDbXref OMIM:300210 semapv:UnspecifiedMatching -DOID:0112024 non-syndromic X-linked intellectual disability 58 skos:exactMatch OMIM:300210 semapv:UnspecifiedMatching DOID:0112025 female-restricted syndromic X-linked intellectual disability 99 oboInOwl:hasDbXref GARD:13638 semapv:UnspecifiedMatching -DOID:0112025 female-restricted syndromic X-linked intellectual disability 99 oboInOwl:hasDbXref OMIM:300968 semapv:UnspecifiedMatching -DOID:0112025 female-restricted syndromic X-linked intellectual disability 99 skos:exactMatch OMIM:300968 semapv:UnspecifiedMatching -DOID:0112026 non-syndromic X-linked intellectual disability 99 oboInOwl:hasDbXref OMIM:300919 semapv:UnspecifiedMatching -DOID:0112026 non-syndromic X-linked intellectual disability 99 skos:exactMatch OMIM:300919 semapv:UnspecifiedMatching DOID:0112027 non-syndromic X-linked intellectual disability 14 oboInOwl:hasDbXref GARD:8557 semapv:UnspecifiedMatching -DOID:0112027 non-syndromic X-linked intellectual disability 14 oboInOwl:hasDbXref OMIM:300062 semapv:UnspecifiedMatching -DOID:0112027 non-syndromic X-linked intellectual disability 14 skos:exactMatch OMIM:300062 semapv:UnspecifiedMatching -DOID:0112028 non-syndromic X-linked intellectual disability 45 oboInOwl:hasDbXref OMIM:300498 semapv:UnspecifiedMatching -DOID:0112028 non-syndromic X-linked intellectual disability 45 skos:exactMatch OMIM:300498 semapv:UnspecifiedMatching -DOID:0112029 non-syndromic X-linked intellectual disability 50 oboInOwl:hasDbXref OMIM:300115 semapv:UnspecifiedMatching -DOID:0112029 non-syndromic X-linked intellectual disability 50 skos:exactMatch OMIM:300115 semapv:UnspecifiedMatching -DOID:0112030 non-syndromic X-linked intellectual disability 84 oboInOwl:hasDbXref OMIM:300505 semapv:UnspecifiedMatching -DOID:0112030 non-syndromic X-linked intellectual disability 84 skos:exactMatch OMIM:300505 semapv:UnspecifiedMatching -DOID:0112031 non-syndromic X-linked intellectual disability 89 oboInOwl:hasDbXref OMIM:300848 semapv:UnspecifiedMatching -DOID:0112031 non-syndromic X-linked intellectual disability 89 skos:exactMatch OMIM:300848 semapv:UnspecifiedMatching -DOID:0112032 non-syndromic X-linked intellectual disability 92 oboInOwl:hasDbXref OMIM:300851 semapv:UnspecifiedMatching -DOID:0112032 non-syndromic X-linked intellectual disability 92 skos:exactMatch OMIM:300851 semapv:UnspecifiedMatching -DOID:0112033 non-syndromic X-linked intellectual disability 81 oboInOwl:hasDbXref OMIM:300433 semapv:UnspecifiedMatching -DOID:0112033 non-syndromic X-linked intellectual disability 81 skos:exactMatch OMIM:300433 semapv:UnspecifiedMatching -DOID:0112034 non-syndromic X-linked intellectual disability 9 oboInOwl:hasDbXref OMIM:309549 semapv:UnspecifiedMatching -DOID:0112034 non-syndromic X-linked intellectual disability 9 skos:exactMatch OMIM:309549 semapv:UnspecifiedMatching -DOID:0112035 non-syndromic X-linked intellectual disability 96 oboInOwl:hasDbXref OMIM:300802 semapv:UnspecifiedMatching -DOID:0112035 non-syndromic X-linked intellectual disability 96 skos:exactMatch OMIM:300802 semapv:UnspecifiedMatching -DOID:0112036 non-syndromic X-linked intellectual disability 105 oboInOwl:hasDbXref OMIM:300984 semapv:UnspecifiedMatching -DOID:0112036 non-syndromic X-linked intellectual disability 105 skos:exactMatch OMIM:300984 semapv:UnspecifiedMatching -DOID:0112037 chromosome Xp11.22 duplication syndrome oboInOwl:hasDbXref OMIM:300705 semapv:UnspecifiedMatching -DOID:0112037 chromosome Xp11.22 duplication syndrome skos:exactMatch OMIM:300705 semapv:UnspecifiedMatching DOID:0112038 non-syndromic X-linked intellectual disability 1 oboInOwl:hasDbXref GARD:13221 semapv:UnspecifiedMatching -DOID:0112038 non-syndromic X-linked intellectual disability 1 oboInOwl:hasDbXref OMIM:309530 semapv:UnspecifiedMatching -DOID:0112038 non-syndromic X-linked intellectual disability 1 skos:exactMatch OMIM:309530 semapv:UnspecifiedMatching -DOID:0112039 non-syndromic X-linked intellectual disability 77 oboInOwl:hasDbXref OMIM:300454 semapv:UnspecifiedMatching -DOID:0112039 non-syndromic X-linked intellectual disability 77 skos:exactMatch OMIM:300454 semapv:UnspecifiedMatching -DOID:0112040 non-syndromic X-linked intellectual disability 100 oboInOwl:hasDbXref OMIM:300923 semapv:UnspecifiedMatching -DOID:0112040 non-syndromic X-linked intellectual disability 100 skos:exactMatch OMIM:300923 semapv:UnspecifiedMatching -DOID:0112041 non-syndromic X-linked intellectual disability 90 oboInOwl:hasDbXref OMIM:300850 semapv:UnspecifiedMatching -DOID:0112041 non-syndromic X-linked intellectual disability 90 skos:exactMatch OMIM:300850 semapv:UnspecifiedMatching -DOID:0112042 Tonne-Kalscheuer syndrome oboInOwl:hasDbXref OMIM:300978 semapv:UnspecifiedMatching -DOID:0112042 Tonne-Kalscheuer syndrome skos:exactMatch OMIM:300978 semapv:UnspecifiedMatching -DOID:0112043 non-syndromic X-linked intellectual disability 91 oboInOwl:hasDbXref OMIM:300577 semapv:UnspecifiedMatching -DOID:0112043 non-syndromic X-linked intellectual disability 91 skos:exactMatch OMIM:300577 semapv:UnspecifiedMatching -DOID:0112044 non-syndromic X-linked intellectual disability 98 oboInOwl:hasDbXref OMIM:300912 semapv:UnspecifiedMatching -DOID:0112044 non-syndromic X-linked intellectual disability 98 skos:exactMatch OMIM:300912 semapv:UnspecifiedMatching -DOID:0112045 non-syndromic X-linked intellectual disability 93 oboInOwl:hasDbXref OMIM:300659 semapv:UnspecifiedMatching -DOID:0112045 non-syndromic X-linked intellectual disability 93 skos:exactMatch OMIM:300659 semapv:UnspecifiedMatching -DOID:0112046 non-syndromic X-linked intellectual disability 97 oboInOwl:hasDbXref OMIM:300803 semapv:UnspecifiedMatching -DOID:0112046 non-syndromic X-linked intellectual disability 97 skos:exactMatch OMIM:300803 semapv:UnspecifiedMatching -DOID:0112047 non-syndromic X-linked intellectual disability 53 oboInOwl:hasDbXref OMIM:300324 semapv:UnspecifiedMatching -DOID:0112047 non-syndromic X-linked intellectual disability 53 skos:exactMatch OMIM:300324 semapv:UnspecifiedMatching -DOID:0112048 non-syndromic X-linked intellectual disability 101 oboInOwl:hasDbXref OMIM:300928 semapv:UnspecifiedMatching -DOID:0112048 non-syndromic X-linked intellectual disability 101 skos:exactMatch OMIM:300928 semapv:UnspecifiedMatching -DOID:0112049 non-syndromic X-linked intellectual disability 23 oboInOwl:hasDbXref OMIM:300046 semapv:UnspecifiedMatching -DOID:0112049 non-syndromic X-linked intellectual disability 23 skos:exactMatch OMIM:300046 semapv:UnspecifiedMatching DOID:0112050 non-syndromic X-linked intellectual disability 63 oboInOwl:hasDbXref GARD:5613 semapv:UnspecifiedMatching -DOID:0112050 non-syndromic X-linked intellectual disability 63 oboInOwl:hasDbXref OMIM:300387 semapv:UnspecifiedMatching -DOID:0112050 non-syndromic X-linked intellectual disability 63 skos:exactMatch OMIM:300387 semapv:UnspecifiedMatching -DOID:0112051 non-syndromic X-linked intellectual disability 30 oboInOwl:hasDbXref OMIM:300558 semapv:UnspecifiedMatching -DOID:0112051 non-syndromic X-linked intellectual disability 30 skos:exactMatch OMIM:300558 semapv:UnspecifiedMatching -DOID:0112052 non-syndromic X-linked intellectual disability 82 oboInOwl:hasDbXref OMIM:300518 semapv:UnspecifiedMatching -DOID:0112052 non-syndromic X-linked intellectual disability 82 skos:exactMatch OMIM:300518 semapv:UnspecifiedMatching -DOID:0112053 non-syndromic X-linked intellectual disability 88 oboInOwl:hasDbXref OMIM:300852 semapv:UnspecifiedMatching -DOID:0112053 non-syndromic X-linked intellectual disability 88 skos:exactMatch OMIM:300852 semapv:UnspecifiedMatching -DOID:0112054 non-syndromic X-linked intellectual disability 107 oboInOwl:hasDbXref OMIM:301013 semapv:UnspecifiedMatching -DOID:0112054 non-syndromic X-linked intellectual disability 107 skos:exactMatch OMIM:301013 semapv:UnspecifiedMatching -DOID:0112055 non-syndromic X-linked intellectual disability 46 oboInOwl:hasDbXref OMIM:300436 semapv:UnspecifiedMatching -DOID:0112055 non-syndromic X-linked intellectual disability 46 skos:exactMatch OMIM:300436 semapv:UnspecifiedMatching -DOID:0112056 X-linked intellectual disability-short stature-overweight syndrome oboInOwl:hasDbXref OMIM:300957 semapv:UnspecifiedMatching DOID:0112056 X-linked intellectual disability-short stature-overweight syndrome oboInOwl:hasDbXref ORDO:457240 semapv:UnspecifiedMatching -DOID:0112056 X-linked intellectual disability-short stature-overweight syndrome skos:exactMatch OMIM:300957 semapv:UnspecifiedMatching -DOID:0112057 non-syndromic X-linked intellectual disability 42 oboInOwl:hasDbXref OMIM:300372 semapv:UnspecifiedMatching -DOID:0112057 non-syndromic X-linked intellectual disability 42 skos:exactMatch OMIM:300372 semapv:UnspecifiedMatching -DOID:0112058 non-syndromic X-linked intellectual disability 41 oboInOwl:hasDbXref OMIM:300849 semapv:UnspecifiedMatching -DOID:0112058 non-syndromic X-linked intellectual disability 41 skos:exactMatch OMIM:300849 semapv:UnspecifiedMatching -DOID:0112059 non-syndromic X-linked intellectual disability 72 oboInOwl:hasDbXref OMIM:300271 semapv:UnspecifiedMatching -DOID:0112059 non-syndromic X-linked intellectual disability 72 skos:exactMatch OMIM:300271 semapv:UnspecifiedMatching -DOID:0112060 Raynaud-Claes syndrome oboInOwl:hasDbXref OMIM:300114 semapv:UnspecifiedMatching -DOID:0112060 Raynaud-Claes syndrome skos:exactMatch OMIM:300114 semapv:UnspecifiedMatching -DOID:0112061 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia oboInOwl:hasDbXref OMIM:618986 semapv:UnspecifiedMatching -DOID:0112061 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia skos:exactMatch OMIM:618986 semapv:UnspecifiedMatching -DOID:0112062 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia oboInOwl:hasDbXref OMIM:618987 semapv:UnspecifiedMatching -DOID:0112062 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia skos:exactMatch OMIM:618987 semapv:UnspecifiedMatching -DOID:0112063 X-Linked immunodeficiency 74 oboInOwl:hasDbXref OMIM:301051 semapv:UnspecifiedMatching -DOID:0112063 X-Linked immunodeficiency 74 skos:exactMatch OMIM:301051 semapv:UnspecifiedMatching DOID:0112064 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis oboInOwl:hasDbXref MESH:C564275 semapv:UnspecifiedMatching -DOID:0112064 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis oboInOwl:hasDbXref OMIM:608203 semapv:UnspecifiedMatching DOID:0112064 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis oboInOwl:hasDbXref ORDO:183707 semapv:UnspecifiedMatching DOID:0112064 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis oboInOwl:hasDbXref UMLS:C1842398 semapv:UnspecifiedMatching -DOID:0112064 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis skos:exactMatch OMIM:608203 semapv:UnspecifiedMatching -DOID:0112065 nuclear type mitochondrial complex I deficiency oboInOwl:hasDbXref OMIMPS:252010 semapv:UnspecifiedMatching -DOID:0112065 nuclear type mitochondrial complex I deficiency skos:exactMatch OMIMPS:252010 semapv:UnspecifiedMatching -DOID:0112066 nuclear type mitochondrial complex I deficiency 6 oboInOwl:hasDbXref OMIM:618228 semapv:UnspecifiedMatching -DOID:0112066 nuclear type mitochondrial complex I deficiency 6 skos:exactMatch OMIM:618228 semapv:UnspecifiedMatching -DOID:0112067 nuclear type mitochondrial complex I deficiency 25 oboInOwl:hasDbXref OMIM:618246 semapv:UnspecifiedMatching -DOID:0112067 nuclear type mitochondrial complex I deficiency 25 skos:exactMatch OMIM:618246 semapv:UnspecifiedMatching -DOID:0112068 nuclear type mitochondrial complex I deficiency 5 oboInOwl:hasDbXref OMIM:618226 semapv:UnspecifiedMatching -DOID:0112068 nuclear type mitochondrial complex I deficiency 5 skos:exactMatch OMIM:618226 semapv:UnspecifiedMatching -DOID:0112069 nuclear type mitochondrial complex I deficiency 22 oboInOwl:hasDbXref OMIM:618243 semapv:UnspecifiedMatching -DOID:0112069 nuclear type mitochondrial complex I deficiency 22 skos:exactMatch OMIM:618243 semapv:UnspecifiedMatching -DOID:0112070 nuclear type mitochondrial complex I deficiency 18 oboInOwl:hasDbXref OMIM:618240 semapv:UnspecifiedMatching -DOID:0112070 nuclear type mitochondrial complex I deficiency 18 skos:exactMatch OMIM:618240 semapv:UnspecifiedMatching -DOID:0112071 nuclear type mitochondrial complex I deficiency 31 oboInOwl:hasDbXref OMIM:618251 semapv:UnspecifiedMatching -DOID:0112071 nuclear type mitochondrial complex I deficiency 31 skos:exactMatch OMIM:618251 semapv:UnspecifiedMatching DOID:0112072 nuclear type mitochondrial complex I deficiency 20 oboInOwl:hasDbXref MESH:C567006 semapv:UnspecifiedMatching -DOID:0112072 nuclear type mitochondrial complex I deficiency 20 oboInOwl:hasDbXref OMIM:611126 semapv:UnspecifiedMatching DOID:0112072 nuclear type mitochondrial complex I deficiency 20 oboInOwl:hasDbXref ORDO:99901 semapv:UnspecifiedMatching DOID:0112072 nuclear type mitochondrial complex I deficiency 20 oboInOwl:hasDbXref UMLS:C1970173 semapv:UnspecifiedMatching -DOID:0112072 nuclear type mitochondrial complex I deficiency 20 skos:exactMatch OMIM:611126 semapv:UnspecifiedMatching -DOID:0112073 nuclear type mitochondrial complex I deficiency 9 oboInOwl:hasDbXref OMIM:618232 semapv:UnspecifiedMatching -DOID:0112073 nuclear type mitochondrial complex I deficiency 9 skos:exactMatch OMIM:618232 semapv:UnspecifiedMatching -DOID:0112074 nuclear type mitochondrial complex I deficiency 1 oboInOwl:hasDbXref OMIM:252010 semapv:UnspecifiedMatching -DOID:0112074 nuclear type mitochondrial complex I deficiency 1 skos:exactMatch OMIM:252010 semapv:UnspecifiedMatching -DOID:0112075 nuclear type mitochondrial complex I deficiency 10 oboInOwl:hasDbXref OMIM:618233 semapv:UnspecifiedMatching -DOID:0112075 nuclear type mitochondrial complex I deficiency 10 skos:exactMatch OMIM:618233 semapv:UnspecifiedMatching -DOID:0112076 nuclear type mitochondrial complex I deficiency 13 oboInOwl:hasDbXref OMIM:618235 semapv:UnspecifiedMatching -DOID:0112076 nuclear type mitochondrial complex I deficiency 13 skos:exactMatch OMIM:618235 semapv:UnspecifiedMatching -DOID:0112077 nuclear type mitochondrial complex I deficiency 15 oboInOwl:hasDbXref OMIM:618237 semapv:UnspecifiedMatching -DOID:0112077 nuclear type mitochondrial complex I deficiency 15 skos:exactMatch OMIM:618237 semapv:UnspecifiedMatching -DOID:0112078 nuclear type mitochondrial complex I deficiency 17 oboInOwl:hasDbXref OMIM:618239 semapv:UnspecifiedMatching -DOID:0112078 nuclear type mitochondrial complex I deficiency 17 skos:exactMatch OMIM:618239 semapv:UnspecifiedMatching -DOID:0112079 nuclear type mitochondrial complex I deficiency 24 oboInOwl:hasDbXref OMIM:618245 semapv:UnspecifiedMatching -DOID:0112079 nuclear type mitochondrial complex I deficiency 24 skos:exactMatch OMIM:618245 semapv:UnspecifiedMatching -DOID:0112080 nuclear type mitochondrial complex I deficiency 32 oboInOwl:hasDbXref OMIM:618252 semapv:UnspecifiedMatching -DOID:0112080 nuclear type mitochondrial complex I deficiency 32 skos:exactMatch OMIM:618252 semapv:UnspecifiedMatching -DOID:0112081 nuclear type mitochondrial complex I deficiency 8 oboInOwl:hasDbXref OMIM:618230 semapv:UnspecifiedMatching -DOID:0112081 nuclear type mitochondrial complex I deficiency 8 skos:exactMatch OMIM:618230 semapv:UnspecifiedMatching -DOID:0112082 nuclear type mitochondrial complex I deficiency 4 oboInOwl:hasDbXref OMIM:618225 semapv:UnspecifiedMatching -DOID:0112082 nuclear type mitochondrial complex I deficiency 4 skos:exactMatch OMIM:618225 semapv:UnspecifiedMatching -DOID:0112083 nuclear type mitochondrial complex I deficiency 2 oboInOwl:hasDbXref OMIM:618222 semapv:UnspecifiedMatching -DOID:0112083 nuclear type mitochondrial complex I deficiency 2 skos:exactMatch OMIM:618222 semapv:UnspecifiedMatching -DOID:0112084 nuclear type mitochondrial complex I deficiency 29 oboInOwl:hasDbXref OMIM:618250 semapv:UnspecifiedMatching -DOID:0112084 nuclear type mitochondrial complex I deficiency 29 skos:exactMatch OMIM:618250 semapv:UnspecifiedMatching -DOID:0112085 nuclear type mitochondrial complex I deficiency 19 oboInOwl:hasDbXref OMIM:618241 semapv:UnspecifiedMatching -DOID:0112085 nuclear type mitochondrial complex I deficiency 19 skos:exactMatch OMIM:618241 semapv:UnspecifiedMatching -DOID:0112086 nuclear type mitochondrial complex I deficiency 26 oboInOwl:hasDbXref OMIM:618247 semapv:UnspecifiedMatching -DOID:0112086 nuclear type mitochondrial complex I deficiency 26 skos:exactMatch OMIM:618247 semapv:UnspecifiedMatching -DOID:0112087 nuclear type mitochondrial complex I deficiency 23 oboInOwl:hasDbXref OMIM:618244 semapv:UnspecifiedMatching -DOID:0112087 nuclear type mitochondrial complex I deficiency 23 skos:exactMatch OMIM:618244 semapv:UnspecifiedMatching -DOID:0112088 nuclear type mitochondrial complex I deficiency 21 oboInOwl:hasDbXref OMIM:618242 semapv:UnspecifiedMatching -DOID:0112088 nuclear type mitochondrial complex I deficiency 21 skos:exactMatch OMIM:618242 semapv:UnspecifiedMatching -DOID:0112089 nuclear type mitochondrial complex I deficiency 11 oboInOwl:hasDbXref OMIM:618234 semapv:UnspecifiedMatching -DOID:0112089 nuclear type mitochondrial complex I deficiency 11 skos:exactMatch OMIM:618234 semapv:UnspecifiedMatching -DOID:0112090 nuclear type mitochondrial complex I deficiency 27 oboInOwl:hasDbXref OMIM:618248 semapv:UnspecifiedMatching -DOID:0112090 nuclear type mitochondrial complex I deficiency 27 skos:exactMatch OMIM:618248 semapv:UnspecifiedMatching -DOID:0112091 nuclear type mitochondrial complex I deficiency 34 oboInOwl:hasDbXref OMIM:618776 semapv:UnspecifiedMatching -DOID:0112091 nuclear type mitochondrial complex I deficiency 34 skos:exactMatch OMIM:618776 semapv:UnspecifiedMatching -DOID:0112092 nuclear type mitochondrial complex I deficiency 7 oboInOwl:hasDbXref OMIM:618229 semapv:UnspecifiedMatching -DOID:0112092 nuclear type mitochondrial complex I deficiency 7 skos:exactMatch OMIM:618229 semapv:UnspecifiedMatching -DOID:0112093 nuclear type mitochondrial complex I deficiency 3 oboInOwl:hasDbXref OMIM:618224 semapv:UnspecifiedMatching -DOID:0112093 nuclear type mitochondrial complex I deficiency 3 skos:exactMatch OMIM:618224 semapv:UnspecifiedMatching -DOID:0112094 nuclear type mitochondrial complex I deficiency 14 oboInOwl:hasDbXref OMIM:618236 semapv:UnspecifiedMatching -DOID:0112094 nuclear type mitochondrial complex I deficiency 14 skos:exactMatch OMIM:618236 semapv:UnspecifiedMatching -DOID:0112095 nuclear type mitochondrial complex I deficiency 28 oboInOwl:hasDbXref OMIM:618249 semapv:UnspecifiedMatching -DOID:0112095 nuclear type mitochondrial complex I deficiency 28 skos:exactMatch OMIM:618249 semapv:UnspecifiedMatching -DOID:0112096 nuclear type mitochondrial complex I deficiency 16 oboInOwl:hasDbXref OMIM:618238 semapv:UnspecifiedMatching -DOID:0112096 nuclear type mitochondrial complex I deficiency 16 skos:exactMatch OMIM:618238 semapv:UnspecifiedMatching -DOID:0112097 nuclear type mitochondrial complex I deficiency 33 oboInOwl:hasDbXref OMIM:618253 semapv:UnspecifiedMatching -DOID:0112097 nuclear type mitochondrial complex I deficiency 33 skos:exactMatch OMIM:618253 semapv:UnspecifiedMatching -DOID:0112098 nuclear type mitochondrial complex I deficiency 30 oboInOwl:hasDbXref OMIM:301021 semapv:UnspecifiedMatching -DOID:0112098 nuclear type mitochondrial complex I deficiency 30 skos:exactMatch OMIM:301021 semapv:UnspecifiedMatching -DOID:0112099 nuclear type mitochondrial complex I deficiency 12 oboInOwl:hasDbXref OMIM:301020 semapv:UnspecifiedMatching -DOID:0112099 nuclear type mitochondrial complex I deficiency 12 skos:exactMatch OMIM:301020 semapv:UnspecifiedMatching -DOID:0112101 mitochondrial type mitochondrial complex I deficiency 1 oboInOwl:hasDbXref OMIM:500014 semapv:UnspecifiedMatching -DOID:0112101 mitochondrial type mitochondrial complex I deficiency 1 skos:exactMatch OMIM:500014 semapv:UnspecifiedMatching -DOID:0112102 Sotos syndrome 2 oboInOwl:hasDbXref OMIM:614753 semapv:UnspecifiedMatching -DOID:0112102 Sotos syndrome 2 skos:exactMatch OMIM:614753 semapv:UnspecifiedMatching -DOID:0112103 Sotos syndrome 1 oboInOwl:hasDbXref OMIM:117550 semapv:UnspecifiedMatching -DOID:0112103 Sotos syndrome 1 skos:exactMatch OMIM:117550 semapv:UnspecifiedMatching -DOID:0112104 Sotos syndrome 3 oboInOwl:hasDbXref OMIM:617169 semapv:UnspecifiedMatching -DOID:0112104 Sotos syndrome 3 skos:exactMatch OMIM:617169 semapv:UnspecifiedMatching -DOID:0112105 X-linked parkinsonism-spasticity syndrome oboInOwl:hasDbXref OMIM:300911 semapv:UnspecifiedMatching DOID:0112105 X-linked parkinsonism-spasticity syndrome oboInOwl:hasDbXref ORDO:363654 semapv:UnspecifiedMatching -DOID:0112105 X-linked parkinsonism-spasticity syndrome skos:exactMatch OMIM:300911 semapv:UnspecifiedMatching -DOID:0112106 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia oboInOwl:hasDbXref OMIM:300863 semapv:UnspecifiedMatching DOID:0112106 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia oboInOwl:hasDbXref ORDO:163966 semapv:UnspecifiedMatching -DOID:0112106 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia skos:exactMatch OMIM:300863 semapv:UnspecifiedMatching DOID:0112107 McLeod syndrome oboInOwl:hasDbXref GARD:10731 semapv:UnspecifiedMatching DOID:0112107 McLeod syndrome oboInOwl:hasDbXref MESH:C564038 semapv:UnspecifiedMatching -DOID:0112107 McLeod syndrome oboInOwl:hasDbXref OMIM:300842 semapv:UnspecifiedMatching DOID:0112107 McLeod syndrome oboInOwl:hasDbXref ORDO:59306 semapv:UnspecifiedMatching DOID:0112107 McLeod syndrome oboInOwl:hasDbXref UMLS:C0398568 semapv:UnspecifiedMatching -DOID:0112107 McLeod syndrome skos:exactMatch OMIM:300842 semapv:UnspecifiedMatching -DOID:0112108 myofibrillar myopathy 10 oboInOwl:hasDbXref OMIM:619040 semapv:UnspecifiedMatching -DOID:0112108 myofibrillar myopathy 10 skos:exactMatch OMIM:619040 semapv:UnspecifiedMatching -DOID:0112109 spermatogenic failure 44 oboInOwl:hasDbXref OMIM:619044 semapv:UnspecifiedMatching -DOID:0112109 spermatogenic failure 44 skos:exactMatch OMIM:619044 semapv:UnspecifiedMatching -DOID:0112110 combined oxidative phosphorylation deficiency 49 oboInOwl:hasDbXref OMIM:619024 semapv:UnspecifiedMatching -DOID:0112110 combined oxidative phosphorylation deficiency 49 skos:exactMatch OMIM:619024 semapv:UnspecifiedMatching -DOID:0112111 combined oxidative phosphorylation deficiency 50 oboInOwl:hasDbXref OMIM:619025 semapv:UnspecifiedMatching -DOID:0112111 combined oxidative phosphorylation deficiency 50 skos:exactMatch OMIM:619025 semapv:UnspecifiedMatching -DOID:0112112 combined oxidative phosphorylation deficiency 48 oboInOwl:hasDbXref OMIM:619012 semapv:UnspecifiedMatching -DOID:0112112 combined oxidative phosphorylation deficiency 48 skos:exactMatch OMIM:619012 semapv:UnspecifiedMatching -DOID:0112113 combined oxidative phosphorylation deficiency 45 oboInOwl:hasDbXref OMIM:618951 semapv:UnspecifiedMatching -DOID:0112113 combined oxidative phosphorylation deficiency 45 skos:exactMatch OMIM:618951 semapv:UnspecifiedMatching -DOID:0112114 combined oxidative phosphorylation deficiency 47 oboInOwl:hasDbXref OMIM:618958 semapv:UnspecifiedMatching -DOID:0112114 combined oxidative phosphorylation deficiency 47 skos:exactMatch OMIM:618958 semapv:UnspecifiedMatching -DOID:0112115 combined oxidative phosphorylation deficiency 46 oboInOwl:hasDbXref OMIM:618952 semapv:UnspecifiedMatching -DOID:0112115 combined oxidative phosphorylation deficiency 46 skos:exactMatch OMIM:618952 semapv:UnspecifiedMatching -DOID:0112116 combined oxidative phosphorylation deficiency 43 oboInOwl:hasDbXref OMIM:618851 semapv:UnspecifiedMatching -DOID:0112116 combined oxidative phosphorylation deficiency 43 skos:exactMatch OMIM:618851 semapv:UnspecifiedMatching -DOID:0112117 combined oxidative phosphorylation deficiency 40 oboInOwl:hasDbXref OMIM:618835 semapv:UnspecifiedMatching DOID:0112117 combined oxidative phosphorylation deficiency 40 oboInOwl:hasDbXref ORDO:570491 semapv:UnspecifiedMatching -DOID:0112117 combined oxidative phosphorylation deficiency 40 skos:exactMatch OMIM:618835 semapv:UnspecifiedMatching -DOID:0112118 combined oxidative phosphorylation deficiency 42 oboInOwl:hasDbXref OMIM:618839 semapv:UnspecifiedMatching -DOID:0112118 combined oxidative phosphorylation deficiency 42 skos:exactMatch OMIM:618839 semapv:UnspecifiedMatching -DOID:0112119 combined oxidative phosphorylation deficiency 41 oboInOwl:hasDbXref OMIM:618838 semapv:UnspecifiedMatching -DOID:0112119 combined oxidative phosphorylation deficiency 41 skos:exactMatch OMIM:618838 semapv:UnspecifiedMatching -DOID:0112120 SHOX-related short stature oboInOwl:hasDbXref OMIM:300582 semapv:UnspecifiedMatching DOID:0112120 SHOX-related short stature oboInOwl:hasDbXref ORDO:314795 semapv:UnspecifiedMatching -DOID:0112120 SHOX-related short stature skos:exactMatch OMIM:300582 semapv:UnspecifiedMatching DOID:0112121 nephrogenic syndrome of inappropriate antidiuresis oboInOwl:hasDbXref MESH:C564491 semapv:UnspecifiedMatching -DOID:0112121 nephrogenic syndrome of inappropriate antidiuresis oboInOwl:hasDbXref OMIM:300539 semapv:UnspecifiedMatching DOID:0112121 nephrogenic syndrome of inappropriate antidiuresis oboInOwl:hasDbXref ORDO:93606 semapv:UnspecifiedMatching DOID:0112121 nephrogenic syndrome of inappropriate antidiuresis oboInOwl:hasDbXref UMLS:C1845202 semapv:UnspecifiedMatching -DOID:0112121 nephrogenic syndrome of inappropriate antidiuresis skos:exactMatch OMIM:300539 semapv:UnspecifiedMatching DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders oboInOwl:hasDbXref MESH:C564505 semapv:UnspecifiedMatching -DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders oboInOwl:hasDbXref OMIM:300491 semapv:UnspecifiedMatching DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders oboInOwl:hasDbXref ORDO:85294 semapv:UnspecifiedMatching DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders oboInOwl:hasDbXref UMLS:C1845343 semapv:UnspecifiedMatching -DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders skos:exactMatch OMIM:300491 semapv:UnspecifiedMatching DOID:0112123 deafness, dystonia, and cerebral hypomyelination oboInOwl:hasDbXref GARD:12472 semapv:UnspecifiedMatching -DOID:0112123 deafness, dystonia, and cerebral hypomyelination oboInOwl:hasDbXref OMIM:300475 semapv:UnspecifiedMatching DOID:0112123 deafness, dystonia, and cerebral hypomyelination oboInOwl:hasDbXref ORDO:369939 semapv:UnspecifiedMatching -DOID:0112123 deafness, dystonia, and cerebral hypomyelination skos:exactMatch OMIM:300475 semapv:UnspecifiedMatching -DOID:0112124 X-linked retinitis pigmentosa and sinorespiratory infections oboInOwl:hasDbXref OMIM:300455 semapv:UnspecifiedMatching DOID:0112124 X-linked retinitis pigmentosa and sinorespiratory infections oboInOwl:hasDbXref ORDO:247522 semapv:UnspecifiedMatching -DOID:0112124 X-linked retinitis pigmentosa and sinorespiratory infections skos:exactMatch OMIM:300455 semapv:UnspecifiedMatching DOID:0112125 alpha-thalassemia myelodysplasia syndrome oboInOwl:hasDbXref MESH:C563023 semapv:UnspecifiedMatching -DOID:0112125 alpha-thalassemia myelodysplasia syndrome oboInOwl:hasDbXref OMIM:300448 semapv:UnspecifiedMatching DOID:0112125 alpha-thalassemia myelodysplasia syndrome oboInOwl:hasDbXref ORDO:231401 semapv:UnspecifiedMatching DOID:0112125 alpha-thalassemia myelodysplasia syndrome oboInOwl:hasDbXref UMLS:C0585216 semapv:UnspecifiedMatching -DOID:0112125 alpha-thalassemia myelodysplasia syndrome skos:exactMatch OMIM:300448 semapv:UnspecifiedMatching -DOID:0112126 Stocco Dos Santos type X-linked intellectual disability oboInOwl:hasDbXref OMIM:300434 semapv:UnspecifiedMatching DOID:0112126 Stocco Dos Santos type X-linked intellectual disability oboInOwl:hasDbXref ORDO:85288 semapv:UnspecifiedMatching -DOID:0112126 Stocco Dos Santos type X-linked intellectual disability skos:exactMatch OMIM:300434 semapv:UnspecifiedMatching -DOID:0112127 HRPT-related hyperuricemia oboInOwl:hasDbXref OMIM:300323 semapv:UnspecifiedMatching DOID:0112127 HRPT-related hyperuricemia oboInOwl:hasDbXref ORDO:79233 semapv:UnspecifiedMatching -DOID:0112127 HRPT-related hyperuricemia skos:exactMatch OMIM:300323 semapv:UnspecifiedMatching DOID:0112128 X-linked severe congenital neutropenia oboInOwl:hasDbXref GARD:3981 semapv:UnspecifiedMatching DOID:0112128 X-linked severe congenital neutropenia oboInOwl:hasDbXref MESH:C564539 semapv:UnspecifiedMatching DOID:0112128 X-linked severe congenital neutropenia oboInOwl:hasDbXref NCI:C176818 semapv:UnspecifiedMatching -DOID:0112128 X-linked severe congenital neutropenia oboInOwl:hasDbXref OMIM:300299 semapv:UnspecifiedMatching DOID:0112128 X-linked severe congenital neutropenia oboInOwl:hasDbXref ORDO:86788 semapv:UnspecifiedMatching DOID:0112128 X-linked severe congenital neutropenia oboInOwl:hasDbXref UMLS:C1845987 semapv:UnspecifiedMatching -DOID:0112128 X-linked severe congenital neutropenia skos:exactMatch OMIM:300299 semapv:UnspecifiedMatching -DOID:0112129 severe congenital neutropenia 7 oboInOwl:hasDbXref OMIM:617014 semapv:UnspecifiedMatching DOID:0112129 severe congenital neutropenia 7 oboInOwl:hasDbXref ORDO:420702 semapv:UnspecifiedMatching -DOID:0112129 severe congenital neutropenia 7 skos:exactMatch OMIM:617014 semapv:UnspecifiedMatching DOID:0112130 autosomal dominant severe congenital neutropenia oboInOwl:hasDbXref GARD:9558 semapv:UnspecifiedMatching DOID:0112130 autosomal dominant severe congenital neutropenia oboInOwl:hasDbXref ORDO:486 semapv:UnspecifiedMatching -DOID:0112131 severe congenital neutropenia 2 oboInOwl:hasDbXref OMIM:613107 semapv:UnspecifiedMatching -DOID:0112131 severe congenital neutropenia 2 skos:exactMatch OMIM:613107 semapv:UnspecifiedMatching -DOID:0112132 severe congenital neutropenia 5 oboInOwl:hasDbXref OMIM:615285 semapv:UnspecifiedMatching DOID:0112132 severe congenital neutropenia 5 oboInOwl:hasDbXref ORDO:369852 semapv:UnspecifiedMatching -DOID:0112132 severe congenital neutropenia 5 skos:exactMatch OMIM:615285 semapv:UnspecifiedMatching DOID:0112133 severe congenital neutropenia 3 oboInOwl:hasDbXref GARD:302 semapv:UnspecifiedMatching -DOID:0112133 severe congenital neutropenia 3 oboInOwl:hasDbXref OMIM:610738 semapv:UnspecifiedMatching DOID:0112133 severe congenital neutropenia 3 oboInOwl:hasDbXref ORDO:99749 semapv:UnspecifiedMatching -DOID:0112133 severe congenital neutropenia 3 skos:exactMatch OMIM:610738 semapv:UnspecifiedMatching -DOID:0112134 severe congenital neutropenia 6 oboInOwl:hasDbXref OMIM:616022 semapv:UnspecifiedMatching DOID:0112134 severe congenital neutropenia 6 oboInOwl:hasDbXref ORDO:423384 semapv:UnspecifiedMatching -DOID:0112134 severe congenital neutropenia 6 skos:exactMatch OMIM:616022 semapv:UnspecifiedMatching -DOID:0112135 severe congenital neutropenia 8 oboInOwl:hasDbXref OMIM:618752 semapv:UnspecifiedMatching -DOID:0112135 severe congenital neutropenia 8 skos:exactMatch OMIM:618752 semapv:UnspecifiedMatching -DOID:0112136 severe congenital neutropenia 4 oboInOwl:hasDbXref OMIM:612541 semapv:UnspecifiedMatching DOID:0112136 severe congenital neutropenia 4 oboInOwl:hasDbXref ORDO:331176 semapv:UnspecifiedMatching -DOID:0112136 severe congenital neutropenia 4 skos:exactMatch OMIM:612541 semapv:UnspecifiedMatching -DOID:0112137 combined oxidative phosphorylation deficiency 51 oboInOwl:hasDbXref OMIM:619057 semapv:UnspecifiedMatching -DOID:0112137 combined oxidative phosphorylation deficiency 51 skos:exactMatch OMIM:619057 semapv:UnspecifiedMatching -DOID:0112138 primary coenzyme Q10 deficiency 9 oboInOwl:hasDbXref OMIM:619028 semapv:UnspecifiedMatching -DOID:0112138 primary coenzyme Q10 deficiency 9 skos:exactMatch OMIM:619028 semapv:UnspecifiedMatching -DOID:0112139 nuclear type mitochondrial complex I deficiency 35 oboInOwl:hasDbXref OMIM:619003 semapv:UnspecifiedMatching -DOID:0112139 nuclear type mitochondrial complex I deficiency 35 skos:exactMatch OMIM:619003 semapv:UnspecifiedMatching -DOID:0112140 retinitis pigmentosa 83 oboInOwl:hasDbXref OMIM:618173 semapv:UnspecifiedMatching -DOID:0112140 retinitis pigmentosa 83 skos:exactMatch OMIM:618173 semapv:UnspecifiedMatching -DOID:0112141 retinitis pigmentosa 84 oboInOwl:hasDbXref OMIM:618220 semapv:UnspecifiedMatching -DOID:0112141 retinitis pigmentosa 84 skos:exactMatch OMIM:618220 semapv:UnspecifiedMatching -DOID:0112142 retinitis pigmentosa 85 oboInOwl:hasDbXref OMIM:618345 semapv:UnspecifiedMatching -DOID:0112142 retinitis pigmentosa 85 skos:exactMatch OMIM:618345 semapv:UnspecifiedMatching -DOID:0112143 retinitis pigmentosa 86 oboInOwl:hasDbXref OMIM:618613 semapv:UnspecifiedMatching -DOID:0112143 retinitis pigmentosa 86 skos:exactMatch OMIM:618613 semapv:UnspecifiedMatching -DOID:0112144 retinitis pigmentosa 87 oboInOwl:hasDbXref OMIM:618697 semapv:UnspecifiedMatching -DOID:0112144 retinitis pigmentosa 87 skos:exactMatch OMIM:618697 semapv:UnspecifiedMatching -DOID:0112145 retinitis pigmentosa 88 oboInOwl:hasDbXref OMIM:618826 semapv:UnspecifiedMatching -DOID:0112145 retinitis pigmentosa 88 skos:exactMatch OMIM:618826 semapv:UnspecifiedMatching -DOID:0112146 retinitis pigmentosa 89 oboInOwl:hasDbXref OMIM:618955 semapv:UnspecifiedMatching -DOID:0112146 retinitis pigmentosa 89 skos:exactMatch OMIM:618955 semapv:UnspecifiedMatching -DOID:0112147 retinitis pigmentosa 90 oboInOwl:hasDbXref OMIM:619007 semapv:UnspecifiedMatching -DOID:0112147 retinitis pigmentosa 90 skos:exactMatch OMIM:619007 semapv:UnspecifiedMatching DOID:0112148 Uruguay faciocardiomusculoskeletal syndrome oboInOwl:hasDbXref MESH:C564544 semapv:UnspecifiedMatching -DOID:0112148 Uruguay faciocardiomusculoskeletal syndrome oboInOwl:hasDbXref OMIM:300280 semapv:UnspecifiedMatching -DOID:0112148 Uruguay faciocardiomusculoskeletal syndrome skos:exactMatch OMIM:300280 semapv:UnspecifiedMatching DOID:0112149 terminal osseous dysplasia oboInOwl:hasDbXref MESH:C564554 semapv:UnspecifiedMatching -DOID:0112149 terminal osseous dysplasia oboInOwl:hasDbXref OMIM:300244 semapv:UnspecifiedMatching DOID:0112149 terminal osseous dysplasia oboInOwl:hasDbXref ORDO:88630 semapv:UnspecifiedMatching DOID:0112149 terminal osseous dysplasia oboInOwl:hasDbXref UMLS:C1846129 semapv:UnspecifiedMatching -DOID:0112149 terminal osseous dysplasia skos:exactMatch OMIM:300244 semapv:UnspecifiedMatching DOID:0112150 X-linked spondyloepimetaphyseal dysplasia oboInOwl:hasDbXref GARD:4979 semapv:UnspecifiedMatching DOID:0112150 X-linked spondyloepimetaphyseal dysplasia oboInOwl:hasDbXref MESH:C564714 semapv:UnspecifiedMatching DOID:0112150 X-linked spondyloepimetaphyseal dysplasia oboInOwl:hasDbXref NCI:C188996 semapv:UnspecifiedMatching -DOID:0112150 X-linked spondyloepimetaphyseal dysplasia oboInOwl:hasDbXref OMIM:300106 semapv:UnspecifiedMatching DOID:0112150 X-linked spondyloepimetaphyseal dysplasia oboInOwl:hasDbXref ORDO:93349 semapv:UnspecifiedMatching DOID:0112150 X-linked spondyloepimetaphyseal dysplasia oboInOwl:hasDbXref UMLS:C1848097 semapv:UnspecifiedMatching -DOID:0112150 X-linked spondyloepimetaphyseal dysplasia skos:exactMatch OMIM:300106 semapv:UnspecifiedMatching DOID:0112151 corpus callosum agenesis-abnormal genitalia syndrome oboInOwl:hasDbXref GARD:4528 semapv:UnspecifiedMatching -DOID:0112151 corpus callosum agenesis-abnormal genitalia syndrome oboInOwl:hasDbXref OMIM:300004 semapv:UnspecifiedMatching DOID:0112151 corpus callosum agenesis-abnormal genitalia syndrome oboInOwl:hasDbXref ORDO:2508 semapv:UnspecifiedMatching -DOID:0112151 corpus callosum agenesis-abnormal genitalia syndrome skos:exactMatch OMIM:300004 semapv:UnspecifiedMatching DOID:0112152 CHIME syndrome oboInOwl:hasDbXref GARD:310 semapv:UnspecifiedMatching DOID:0112152 CHIME syndrome oboInOwl:hasDbXref MESH:C536729 semapv:UnspecifiedMatching -DOID:0112152 CHIME syndrome oboInOwl:hasDbXref OMIM:280000 semapv:UnspecifiedMatching DOID:0112152 CHIME syndrome oboInOwl:hasDbXref ORDO:3474 semapv:UnspecifiedMatching DOID:0112152 CHIME syndrome oboInOwl:hasDbXref UMLS:C1848392 semapv:UnspecifiedMatching -DOID:0112152 CHIME syndrome skos:exactMatch OMIM:280000 semapv:UnspecifiedMatching -DOID:0112153 hypomyelinating leukodystrophy 20 oboInOwl:hasDbXref OMIM:619071 semapv:UnspecifiedMatching -DOID:0112153 hypomyelinating leukodystrophy 20 skos:exactMatch OMIM:619071 semapv:UnspecifiedMatching -DOID:0112154 inflammatory bowel disease 30 oboInOwl:hasDbXref OMIM:619079 semapv:UnspecifiedMatching -DOID:0112154 inflammatory bowel disease 30 skos:exactMatch OMIM:619079 semapv:UnspecifiedMatching -DOID:0112155 inflammatory bowel disease 29 oboInOwl:hasDbXref OMIM:618077 semapv:UnspecifiedMatching -DOID:0112155 inflammatory bowel disease 29 skos:exactMatch OMIM:618077 semapv:UnspecifiedMatching -DOID:0112156 X-linked dyserythropoietic anemia oboInOwl:hasDbXref OMIM:300835 semapv:UnspecifiedMatching DOID:0112156 X-linked dyserythropoietic anemia oboInOwl:hasDbXref ORDO:363727 semapv:UnspecifiedMatching -DOID:0112156 X-linked dyserythropoietic anemia skos:exactMatch OMIM:300835 semapv:UnspecifiedMatching -DOID:0112157 X-linked atrophic macular degeneration oboInOwl:hasDbXref OMIM:300834 semapv:UnspecifiedMatching -DOID:0112157 X-linked atrophic macular degeneration skos:exactMatch OMIM:300834 semapv:UnspecifiedMatching DOID:0112158 De Sanctis-Cacchione syndrome oboInOwl:hasDbXref GARD:8276 semapv:UnspecifiedMatching DOID:0112158 De Sanctis-Cacchione syndrome oboInOwl:hasDbXref MESH:C535992 semapv:UnspecifiedMatching DOID:0112158 De Sanctis-Cacchione syndrome oboInOwl:hasDbXref NCI:C84666 semapv:UnspecifiedMatching -DOID:0112158 De Sanctis-Cacchione syndrome oboInOwl:hasDbXref OMIM:278800 semapv:UnspecifiedMatching DOID:0112158 De Sanctis-Cacchione syndrome oboInOwl:hasDbXref ORDO:1569 semapv:UnspecifiedMatching DOID:0112158 De Sanctis-Cacchione syndrome oboInOwl:hasDbXref UMLS:C0265201 semapv:UnspecifiedMatching -DOID:0112158 De Sanctis-Cacchione syndrome skos:exactMatch OMIM:278800 semapv:UnspecifiedMatching -DOID:0112159 autosomal dominant nonsyndromic deafness 78 oboInOwl:hasDbXref OMIM:619081 semapv:UnspecifiedMatching -DOID:0112159 autosomal dominant nonsyndromic deafness 78 skos:exactMatch OMIM:619081 semapv:UnspecifiedMatching -DOID:0112160 autosomal dominant nonsyndromic deafness 79 oboInOwl:hasDbXref OMIM:619086 semapv:UnspecifiedMatching -DOID:0112160 autosomal dominant nonsyndromic deafness 79 skos:exactMatch OMIM:619086 semapv:UnspecifiedMatching -DOID:0112161 Noonan syndrome 13 oboInOwl:hasDbXref OMIM:619087 semapv:UnspecifiedMatching -DOID:0112161 Noonan syndrome 13 skos:exactMatch OMIM:619087 semapv:UnspecifiedMatching -DOID:0112162 autosomal recessive nonsyndromic deafness 116 oboInOwl:hasDbXref OMIM:619093 semapv:UnspecifiedMatching -DOID:0112162 autosomal recessive nonsyndromic deafness 116 skos:exactMatch OMIM:619093 semapv:UnspecifiedMatching -DOID:0112163 spermatogenic failure 45 oboInOwl:hasDbXref OMIM:619094 semapv:UnspecifiedMatching -DOID:0112163 spermatogenic failure 45 skos:exactMatch OMIM:619094 semapv:UnspecifiedMatching -DOID:0112164 spermatogenic failure 46 oboInOwl:hasDbXref OMIM:619095 semapv:UnspecifiedMatching -DOID:0112164 spermatogenic failure 46 skos:exactMatch OMIM:619095 semapv:UnspecifiedMatching -DOID:0112165 autosomal dominant nonsyndromic deafness 74 oboInOwl:hasDbXref OMIM:618140 semapv:UnspecifiedMatching -DOID:0112165 autosomal dominant nonsyndromic deafness 74 skos:exactMatch OMIM:618140 semapv:UnspecifiedMatching -DOID:0112166 autosomal dominant nonsyndromic deafness 75 oboInOwl:hasDbXref OMIM:618778 semapv:UnspecifiedMatching -DOID:0112166 autosomal dominant nonsyndromic deafness 75 skos:exactMatch OMIM:618778 semapv:UnspecifiedMatching -DOID:0112167 autosomal dominant nonsyndromic deafness 76 oboInOwl:hasDbXref OMIM:618787 semapv:UnspecifiedMatching -DOID:0112167 autosomal dominant nonsyndromic deafness 76 skos:exactMatch OMIM:618787 semapv:UnspecifiedMatching -DOID:0112168 autosomal dominant nonsyndromic deafness 77 oboInOwl:hasDbXref OMIM:618915 semapv:UnspecifiedMatching -DOID:0112168 autosomal dominant nonsyndromic deafness 77 skos:exactMatch OMIM:618915 semapv:UnspecifiedMatching -DOID:0112169 Noonan syndrome 11 oboInOwl:hasDbXref OMIM:618499 semapv:UnspecifiedMatching -DOID:0112169 Noonan syndrome 11 skos:exactMatch OMIM:618499 semapv:UnspecifiedMatching -DOID:0112170 Noonan syndrome 12 oboInOwl:hasDbXref OMIM:618624 semapv:UnspecifiedMatching -DOID:0112170 Noonan syndrome 12 skos:exactMatch OMIM:618624 semapv:UnspecifiedMatching DOID:0112171 wrinkly skin syndrome oboInOwl:hasDbXref GARD:273 semapv:UnspecifiedMatching DOID:0112171 wrinkly skin syndrome oboInOwl:hasDbXref MESH:C536750 semapv:UnspecifiedMatching -DOID:0112171 wrinkly skin syndrome oboInOwl:hasDbXref OMIM:278250 semapv:UnspecifiedMatching DOID:0112171 wrinkly skin syndrome oboInOwl:hasDbXref ORDO:2834 semapv:UnspecifiedMatching DOID:0112171 wrinkly skin syndrome oboInOwl:hasDbXref UMLS:C0406587 semapv:UnspecifiedMatching -DOID:0112171 wrinkly skin syndrome skos:exactMatch OMIM:278250 semapv:UnspecifiedMatching DOID:0112172 hereditary combined deficiency of vitamin K-dependent clotting factors oboInOwl:hasDbXref ORDO:98434 semapv:UnspecifiedMatching DOID:0112172 hereditary combined deficiency of vitamin K-dependent clotting factors oboInOwl:hasDbXref UMLS:C4510617 semapv:UnspecifiedMatching DOID:0112173 combined deficiency of vitamin K-dependent clotting factors 1 oboInOwl:hasDbXref MESH:C564741 semapv:UnspecifiedMatching -DOID:0112173 combined deficiency of vitamin K-dependent clotting factors 1 oboInOwl:hasDbXref OMIM:277450 semapv:UnspecifiedMatching DOID:0112173 combined deficiency of vitamin K-dependent clotting factors 1 oboInOwl:hasDbXref UMLS:C1848534 semapv:UnspecifiedMatching -DOID:0112173 combined deficiency of vitamin K-dependent clotting factors 1 skos:exactMatch OMIM:277450 semapv:UnspecifiedMatching DOID:0112174 combined deficiency of vitamin K-dependent clotting factors 2 oboInOwl:hasDbXref MESH:C564393 semapv:UnspecifiedMatching -DOID:0112174 combined deficiency of vitamin K-dependent clotting factors 2 oboInOwl:hasDbXref OMIM:607473 semapv:UnspecifiedMatching -DOID:0112174 combined deficiency of vitamin K-dependent clotting factors 2 skos:exactMatch OMIM:607473 semapv:UnspecifiedMatching -DOID:0112175 spermatogenic failure 47 oboInOwl:hasDbXref OMIM:619102 semapv:UnspecifiedMatching -DOID:0112175 spermatogenic failure 47 skos:exactMatch OMIM:619102 semapv:UnspecifiedMatching -DOID:0112176 spermatogenic failure 48 oboInOwl:hasDbXref OMIM:619108 semapv:UnspecifiedMatching -DOID:0112176 spermatogenic failure 48 skos:exactMatch OMIM:619108 semapv:UnspecifiedMatching DOID:0112177 Mayer-Rokitansky-Kuster-Hauser syndrome oboInOwl:hasDbXref ORDO:3109 semapv:UnspecifiedMatching -DOID:0112178 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 oboInOwl:hasDbXref OMIM:277000 semapv:UnspecifiedMatching DOID:0112178 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 oboInOwl:hasDbXref ORDO:247775 semapv:UnspecifiedMatching -DOID:0112178 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:exactMatch OMIM:277000 semapv:UnspecifiedMatching -DOID:0112179 Mayer-Rokitansky-Kuster-Hauser syndrome type 2 oboInOwl:hasDbXref OMIM:601076 semapv:UnspecifiedMatching DOID:0112179 Mayer-Rokitansky-Kuster-Hauser syndrome type 2 oboInOwl:hasDbXref ORDO:2578 semapv:UnspecifiedMatching -DOID:0112179 Mayer-Rokitansky-Kuster-Hauser syndrome type 2 skos:exactMatch OMIM:601076 semapv:UnspecifiedMatching DOID:0112180 urocanase deficiency oboInOwl:hasDbXref GARD:8539 semapv:UnspecifiedMatching DOID:0112180 urocanase deficiency oboInOwl:hasDbXref MESH:C536479 semapv:UnspecifiedMatching -DOID:0112180 urocanase deficiency oboInOwl:hasDbXref OMIM:276880 semapv:UnspecifiedMatching DOID:0112180 urocanase deficiency oboInOwl:hasDbXref ORDO:210128 semapv:UnspecifiedMatching DOID:0112180 urocanase deficiency oboInOwl:hasDbXref UMLS:C0268514 semapv:UnspecifiedMatching -DOID:0112180 urocanase deficiency skos:exactMatch OMIM:276880 semapv:UnspecifiedMatching DOID:0112181 Schinzel type phocomelia oboInOwl:hasDbXref GARD:9212 semapv:UnspecifiedMatching -DOID:0112181 Schinzel type phocomelia oboInOwl:hasDbXref OMIM:276820 semapv:UnspecifiedMatching DOID:0112181 Schinzel type phocomelia oboInOwl:hasDbXref ORDO:2879 semapv:UnspecifiedMatching -DOID:0112181 Schinzel type phocomelia skos:exactMatch OMIM:276820 semapv:UnspecifiedMatching -DOID:0112182 mismatch repair cancer syndrome oboInOwl:hasDbXref OMIM:276300 semapv:UnspecifiedMatching DOID:0112182 mismatch repair cancer syndrome oboInOwl:hasDbXref ORDO:252202 semapv:UnspecifiedMatching -DOID:0112182 mismatch repair cancer syndrome skos:exactMatch OMIM:276300 semapv:UnspecifiedMatching DOID:0112183 familial thyroid dyshormonogenesis oboInOwl:hasDbXref ORDO:95716 semapv:UnspecifiedMatching DOID:0112184 thyroid dyshormonogenesis 5 oboInOwl:hasDbXref MESH:C562771 semapv:UnspecifiedMatching -DOID:0112184 thyroid dyshormonogenesis 5 oboInOwl:hasDbXref OMIM:274900 semapv:UnspecifiedMatching -DOID:0112184 thyroid dyshormonogenesis 5 skos:exactMatch OMIM:274900 semapv:UnspecifiedMatching DOID:0112185 thyroid dyshormonogenesis 1 oboInOwl:hasDbXref MESH:C564766 semapv:UnspecifiedMatching -DOID:0112185 thyroid dyshormonogenesis 1 oboInOwl:hasDbXref OMIM:274400 semapv:UnspecifiedMatching -DOID:0112185 thyroid dyshormonogenesis 1 skos:exactMatch OMIM:274400 semapv:UnspecifiedMatching DOID:0112186 thyroid dyshormonogenesis 2A oboInOwl:hasDbXref MESH:C563206 semapv:UnspecifiedMatching -DOID:0112186 thyroid dyshormonogenesis 2A oboInOwl:hasDbXref OMIM:274500 semapv:UnspecifiedMatching -DOID:0112186 thyroid dyshormonogenesis 2A skos:exactMatch OMIM:274500 semapv:UnspecifiedMatching DOID:0112187 thyroid dyshormonogenesis 3 oboInOwl:hasDbXref MESH:C562769 semapv:UnspecifiedMatching -DOID:0112187 thyroid dyshormonogenesis 3 oboInOwl:hasDbXref OMIM:274700 semapv:UnspecifiedMatching -DOID:0112187 thyroid dyshormonogenesis 3 skos:exactMatch OMIM:274700 semapv:UnspecifiedMatching DOID:0112188 thyroid dyshormonogenesis 4 oboInOwl:hasDbXref MESH:C562770 semapv:UnspecifiedMatching -DOID:0112188 thyroid dyshormonogenesis 4 oboInOwl:hasDbXref OMIM:274800 semapv:UnspecifiedMatching -DOID:0112188 thyroid dyshormonogenesis 4 skos:exactMatch OMIM:274800 semapv:UnspecifiedMatching DOID:0112189 thyroid dyshormonogenesis 6 oboInOwl:hasDbXref MESH:C564608 semapv:UnspecifiedMatching -DOID:0112189 thyroid dyshormonogenesis 6 oboInOwl:hasDbXref OMIM:607200 semapv:UnspecifiedMatching -DOID:0112189 thyroid dyshormonogenesis 6 skos:exactMatch OMIM:607200 semapv:UnspecifiedMatching -DOID:0112190 distal arthrogryposis type 1C oboInOwl:hasDbXref OMIM:619110 semapv:UnspecifiedMatching -DOID:0112190 distal arthrogryposis type 1C skos:exactMatch OMIM:619110 semapv:UnspecifiedMatching DOID:0112191 tetraamelia syndrome oboInOwl:hasDbXref GARD:386 semapv:UnspecifiedMatching DOID:0112191 tetraamelia syndrome oboInOwl:hasDbXref ORDO:3301 semapv:UnspecifiedMatching DOID:0112192 tetraamelia syndrome 1 oboInOwl:hasDbXref GARD:5148 semapv:UnspecifiedMatching -DOID:0112192 tetraamelia syndrome 1 oboInOwl:hasDbXref OMIM:273395 semapv:UnspecifiedMatching -DOID:0112192 tetraamelia syndrome 1 skos:exactMatch OMIM:273395 semapv:UnspecifiedMatching DOID:0112193 tetraamelia syndrome 2 oboInOwl:hasDbXref GARD:5147 semapv:UnspecifiedMatching -DOID:0112193 tetraamelia syndrome 2 oboInOwl:hasDbXref OMIM:618021 semapv:UnspecifiedMatching -DOID:0112193 tetraamelia syndrome 2 skos:exactMatch OMIM:618021 semapv:UnspecifiedMatching DOID:0112194 Filippi syndrome oboInOwl:hasDbXref GARD:62 semapv:UnspecifiedMatching DOID:0112194 Filippi syndrome oboInOwl:hasDbXref MESH:C538152 semapv:UnspecifiedMatching -DOID:0112194 Filippi syndrome oboInOwl:hasDbXref OMIM:272440 semapv:UnspecifiedMatching DOID:0112194 Filippi syndrome oboInOwl:hasDbXref ORDO:3255 semapv:UnspecifiedMatching -DOID:0112194 Filippi syndrome skos:exactMatch OMIM:272440 semapv:UnspecifiedMatching -DOID:0112195 spondyloperipheral dysplasia oboInOwl:hasDbXref OMIM:271700 semapv:UnspecifiedMatching DOID:0112195 spondyloperipheral dysplasia oboInOwl:hasDbXref ORDO:1856 semapv:UnspecifiedMatching -DOID:0112195 spondyloperipheral dysplasia skos:exactMatch OMIM:271700 semapv:UnspecifiedMatching DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type oboInOwl:hasDbXref GARD:10616 semapv:UnspecifiedMatching DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type oboInOwl:hasDbXref MESH:C564794 semapv:UnspecifiedMatching -DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type oboInOwl:hasDbXref OMIM:271665 semapv:UnspecifiedMatching DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type oboInOwl:hasDbXref ORDO:93358 semapv:UnspecifiedMatching DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type oboInOwl:hasDbXref UMLS:C1849011 semapv:UnspecifiedMatching -DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type skos:exactMatch OMIM:271665 semapv:UnspecifiedMatching DOID:0112197 spondyloepimetaphyseal dysplasia with joint laxity oboInOwl:hasDbXref GARD:4982 semapv:UnspecifiedMatching DOID:0112197 spondyloepimetaphyseal dysplasia with joint laxity oboInOwl:hasDbXref MESH:C562968 semapv:UnspecifiedMatching -DOID:0112197 spondyloepimetaphyseal dysplasia with joint laxity oboInOwl:hasDbXref OMIMPS:271640 semapv:UnspecifiedMatching DOID:0112197 spondyloepimetaphyseal dysplasia with joint laxity oboInOwl:hasDbXref ORDO:93359 semapv:UnspecifiedMatching -DOID:0112197 spondyloepimetaphyseal dysplasia with joint laxity skos:exactMatch OMIMPS:271640 semapv:UnspecifiedMatching -DOID:0112198 spondyloepimetaphyseal dysplasia with joint laxity type 1 oboInOwl:hasDbXref OMIM:271640 semapv:UnspecifiedMatching -DOID:0112198 spondyloepimetaphyseal dysplasia with joint laxity type 1 skos:exactMatch OMIM:271640 semapv:UnspecifiedMatching -DOID:0112199 spondyloepimetaphyseal dysplasia with joint laxity type 2 oboInOwl:hasDbXref OMIM:603546 semapv:UnspecifiedMatching DOID:0112199 spondyloepimetaphyseal dysplasia with joint laxity type 2 oboInOwl:hasDbXref ORDO:93360 semapv:UnspecifiedMatching -DOID:0112199 spondyloepimetaphyseal dysplasia with joint laxity type 2 skos:exactMatch OMIM:603546 semapv:UnspecifiedMatching -DOID:0112200 spondyloepimetaphyseal dysplasia with joint laxity type 3 oboInOwl:hasDbXref OMIM:618395 semapv:UnspecifiedMatching -DOID:0112200 spondyloepimetaphyseal dysplasia with joint laxity type 3 skos:exactMatch OMIM:618395 semapv:UnspecifiedMatching -DOID:0112201 osteogenesis imperfecta type 21 oboInOwl:hasDbXref OMIM:619131 semapv:UnspecifiedMatching -DOID:0112201 osteogenesis imperfecta type 21 skos:exactMatch OMIM:619131 semapv:UnspecifiedMatching -DOID:0112202 developmental and epileptic encephalopathy oboInOwl:hasDbXref OMIMPS:308350 semapv:UnspecifiedMatching -DOID:0112202 developmental and epileptic encephalopathy skos:exactMatch OMIMPS:308350 semapv:UnspecifiedMatching -DOID:0112203 developmental and epileptic encephalopathy 67 oboInOwl:hasDbXref OMIM:618141 semapv:UnspecifiedMatching -DOID:0112203 developmental and epileptic encephalopathy 67 skos:exactMatch OMIM:618141 semapv:UnspecifiedMatching -DOID:0112204 developmental and epileptic encephalopathy 68 oboInOwl:hasDbXref OMIM:618201 semapv:UnspecifiedMatching -DOID:0112204 developmental and epileptic encephalopathy 68 skos:exactMatch OMIM:618201 semapv:UnspecifiedMatching -DOID:0112205 developmental and epileptic encephalopathy 69 oboInOwl:hasDbXref OMIM:618285 semapv:UnspecifiedMatching -DOID:0112205 developmental and epileptic encephalopathy 69 skos:exactMatch OMIM:618285 semapv:UnspecifiedMatching -DOID:0112206 developmental and epileptic encephalopathy 70 oboInOwl:hasDbXref OMIM:618298 semapv:UnspecifiedMatching -DOID:0112206 developmental and epileptic encephalopathy 70 skos:exactMatch OMIM:618298 semapv:UnspecifiedMatching -DOID:0112207 developmental and epileptic encephalopathy 71 oboInOwl:hasDbXref OMIM:618328 semapv:UnspecifiedMatching -DOID:0112207 developmental and epileptic encephalopathy 71 skos:exactMatch OMIM:618328 semapv:UnspecifiedMatching -DOID:0112208 developmental and epileptic encephalopathy 72 oboInOwl:hasDbXref OMIM:618374 semapv:UnspecifiedMatching -DOID:0112208 developmental and epileptic encephalopathy 72 skos:exactMatch OMIM:618374 semapv:UnspecifiedMatching -DOID:0112209 developmental and epileptic encephalopathy 73 oboInOwl:hasDbXref OMIM:618379 semapv:UnspecifiedMatching -DOID:0112209 developmental and epileptic encephalopathy 73 skos:exactMatch OMIM:618379 semapv:UnspecifiedMatching -DOID:0112210 developmental and epileptic encephalopathy 74 oboInOwl:hasDbXref OMIM:618396 semapv:UnspecifiedMatching -DOID:0112210 developmental and epileptic encephalopathy 74 skos:exactMatch OMIM:618396 semapv:UnspecifiedMatching -DOID:0112211 developmental and epileptic encephalopathy 75 oboInOwl:hasDbXref OMIM:618437 semapv:UnspecifiedMatching -DOID:0112211 developmental and epileptic encephalopathy 75 skos:exactMatch OMIM:618437 semapv:UnspecifiedMatching -DOID:0112212 developmental and epileptic encephalopathy 76 oboInOwl:hasDbXref OMIM:618468 semapv:UnspecifiedMatching -DOID:0112212 developmental and epileptic encephalopathy 76 skos:exactMatch OMIM:618468 semapv:UnspecifiedMatching -DOID:0112213 multiple congenital anomalies-hypotonia-seizures syndrome 4 oboInOwl:hasDbXref OMIM:618548 semapv:UnspecifiedMatching -DOID:0112213 multiple congenital anomalies-hypotonia-seizures syndrome 4 skos:exactMatch OMIM:618548 semapv:UnspecifiedMatching -DOID:0112214 developmental and epileptic encephalopathy 78 oboInOwl:hasDbXref OMIM:618557 semapv:UnspecifiedMatching -DOID:0112214 developmental and epileptic encephalopathy 78 skos:exactMatch OMIM:618557 semapv:UnspecifiedMatching -DOID:0112215 developmental and epileptic encephalopathy 79 oboInOwl:hasDbXref OMIM:618559 semapv:UnspecifiedMatching -DOID:0112215 developmental and epileptic encephalopathy 79 skos:exactMatch OMIM:618559 semapv:UnspecifiedMatching -DOID:0112216 developmental and epileptic encephalopathy 80 oboInOwl:hasDbXref OMIM:618580 semapv:UnspecifiedMatching -DOID:0112216 developmental and epileptic encephalopathy 80 skos:exactMatch OMIM:618580 semapv:UnspecifiedMatching -DOID:0112217 developmental and epileptic encephalopathy 81 oboInOwl:hasDbXref OMIM:618663 semapv:UnspecifiedMatching -DOID:0112217 developmental and epileptic encephalopathy 81 skos:exactMatch OMIM:618663 semapv:UnspecifiedMatching -DOID:0112218 developmental and epileptic encephalopathy 83 oboInOwl:hasDbXref OMIM:618744 semapv:UnspecifiedMatching -DOID:0112218 developmental and epileptic encephalopathy 83 skos:exactMatch OMIM:618744 semapv:UnspecifiedMatching -DOID:0112219 developmental and epileptic encephalopathy 84 oboInOwl:hasDbXref OMIM:618792 semapv:UnspecifiedMatching -DOID:0112219 developmental and epileptic encephalopathy 84 skos:exactMatch OMIM:618792 semapv:UnspecifiedMatching -DOID:0112220 developmental and epileptic encephalopathy 86 oboInOwl:hasDbXref OMIM:618910 semapv:UnspecifiedMatching -DOID:0112220 developmental and epileptic encephalopathy 86 skos:exactMatch OMIM:618910 semapv:UnspecifiedMatching -DOID:0112221 developmental and epileptic encephalopathy 87 oboInOwl:hasDbXref OMIM:618916 semapv:UnspecifiedMatching -DOID:0112221 developmental and epileptic encephalopathy 87 skos:exactMatch OMIM:618916 semapv:UnspecifiedMatching -DOID:0112222 developmental and epileptic encephalopathy 88 oboInOwl:hasDbXref OMIM:618959 semapv:UnspecifiedMatching -DOID:0112222 developmental and epileptic encephalopathy 88 skos:exactMatch OMIM:618959 semapv:UnspecifiedMatching -DOID:0112223 developmental and epileptic encephalopathy 89 oboInOwl:hasDbXref OMIM:619124 semapv:UnspecifiedMatching -DOID:0112223 developmental and epileptic encephalopathy 89 skos:exactMatch OMIM:619124 semapv:UnspecifiedMatching DOID:0112224 chondrodysplasia with joint dislocations gPAPP type oboInOwl:hasDbXref GARD:11009 semapv:UnspecifiedMatching -DOID:0112224 chondrodysplasia with joint dislocations gPAPP type oboInOwl:hasDbXref OMIM:614078 semapv:UnspecifiedMatching DOID:0112224 chondrodysplasia with joint dislocations gPAPP type oboInOwl:hasDbXref ORDO:280586 semapv:UnspecifiedMatching -DOID:0112224 chondrodysplasia with joint dislocations gPAPP type skos:exactMatch OMIM:614078 semapv:UnspecifiedMatching -DOID:0112225 BH4-deficient hyperphenylalaninemia B oboInOwl:hasDbXref OMIM:233910 semapv:UnspecifiedMatching DOID:0112225 BH4-deficient hyperphenylalaninemia B oboInOwl:hasDbXref ORDO:2102 semapv:UnspecifiedMatching -DOID:0112225 BH4-deficient hyperphenylalaninemia B skos:exactMatch OMIM:233910 semapv:UnspecifiedMatching -DOID:0112226 Bosch-Boonstra-Schaaf optic atrophy syndrome oboInOwl:hasDbXref OMIM:615722 semapv:UnspecifiedMatching DOID:0112226 Bosch-Boonstra-Schaaf optic atrophy syndrome oboInOwl:hasDbXref ORDO:401777 semapv:UnspecifiedMatching -DOID:0112226 Bosch-Boonstra-Schaaf optic atrophy syndrome skos:exactMatch OMIM:615722 semapv:UnspecifiedMatching -DOID:0112228 lissencephaly 9 with complex brainstem malformation oboInOwl:hasDbXref OMIM:618325 semapv:UnspecifiedMatching DOID:0112228 lissencephaly 9 with complex brainstem malformation oboInOwl:hasDbXref ORDO:572013 semapv:UnspecifiedMatching -DOID:0112228 lissencephaly 9 with complex brainstem malformation skos:exactMatch OMIM:618325 semapv:UnspecifiedMatching -DOID:0112229 lissencephaly 10 oboInOwl:hasDbXref OMIM:618873 semapv:UnspecifiedMatching -DOID:0112229 lissencephaly 10 skos:exactMatch OMIM:618873 semapv:UnspecifiedMatching -DOID:0112230 lissencephaly 5 oboInOwl:hasDbXref OMIM:615191 semapv:UnspecifiedMatching -DOID:0112230 lissencephaly 5 skos:exactMatch OMIM:615191 semapv:UnspecifiedMatching -DOID:0112231 lissencephaly 7 with cerebellar hypoplasia oboInOwl:hasDbXref OMIM:616342 semapv:UnspecifiedMatching -DOID:0112231 lissencephaly 7 with cerebellar hypoplasia skos:exactMatch OMIM:616342 semapv:UnspecifiedMatching DOID:0112232 lissencephaly 3 oboInOwl:hasDbXref MESH:C566908 semapv:UnspecifiedMatching -DOID:0112232 lissencephaly 3 oboInOwl:hasDbXref OMIM:611603 semapv:UnspecifiedMatching DOID:0112232 lissencephaly 3 oboInOwl:hasDbXref ORDO:171680 semapv:UnspecifiedMatching -DOID:0112232 lissencephaly 3 skos:exactMatch OMIM:611603 semapv:UnspecifiedMatching -DOID:0112233 lissencephaly 8 oboInOwl:hasDbXref OMIM:617255 semapv:UnspecifiedMatching -DOID:0112233 lissencephaly 8 skos:exactMatch OMIM:617255 semapv:UnspecifiedMatching DOID:0112234 microlissencephaly oboInOwl:hasDbXref ORDO:1083 semapv:UnspecifiedMatching -DOID:0112235 lissencephaly 4 oboInOwl:hasDbXref OMIM:614019 semapv:UnspecifiedMatching -DOID:0112235 lissencephaly 4 skos:exactMatch OMIM:614019 semapv:UnspecifiedMatching -DOID:0112236 lissencephaly 6 oboInOwl:hasDbXref OMIM:616212 semapv:UnspecifiedMatching -DOID:0112236 lissencephaly 6 skos:exactMatch OMIM:616212 semapv:UnspecifiedMatching -DOID:0112237 lissencephaly 1 oboInOwl:hasDbXref OMIM:607432 semapv:UnspecifiedMatching DOID:0112237 lissencephaly 1 oboInOwl:hasDbXref ORDO:95232 semapv:UnspecifiedMatching -DOID:0112237 lissencephaly 1 skos:exactMatch OMIM:607432 semapv:UnspecifiedMatching -DOID:0112238 X-linked lissencephaly 2 oboInOwl:hasDbXref OMIM:300215 semapv:UnspecifiedMatching DOID:0112238 X-linked lissencephaly 2 oboInOwl:hasDbXref ORDO:452 semapv:UnspecifiedMatching -DOID:0112238 X-linked lissencephaly 2 skos:exactMatch OMIM:300215 semapv:UnspecifiedMatching -DOID:0112239 X-linked lissencephaly 1 oboInOwl:hasDbXref OMIM:300067 semapv:UnspecifiedMatching -DOID:0112239 X-linked lissencephaly 1 skos:exactMatch OMIM:300067 semapv:UnspecifiedMatching -DOID:0112240 Leber congenital amaurosis with early-onset deafness oboInOwl:hasDbXref OMIM:617879 semapv:UnspecifiedMatching -DOID:0112240 Leber congenital amaurosis with early-onset deafness skos:exactMatch OMIM:617879 semapv:UnspecifiedMatching DOID:0112241 multiple benign circumferential skin creases on limbs oboInOwl:hasDbXref GARD:3589 semapv:UnspecifiedMatching -DOID:0112241 multiple benign circumferential skin creases on limbs oboInOwl:hasDbXref OMIMPS:156610 semapv:UnspecifiedMatching DOID:0112241 multiple benign circumferential skin creases on limbs oboInOwl:hasDbXref ORDO:2505 semapv:UnspecifiedMatching DOID:0112241 multiple benign circumferential skin creases on limbs skos:exactMatch GARD:3589 semapv:UnspecifiedMatching -DOID:0112241 multiple benign circumferential skin creases on limbs skos:exactMatch OMIM:PS156610 semapv:UnspecifiedMatching -DOID:0112241 multiple benign circumferential skin creases on limbs skos:exactMatch OMIMPS:156610 semapv:UnspecifiedMatching -DOID:0112242 congenital symmetric circumferential skin creases 1 oboInOwl:hasDbXref OMIM:156610 semapv:UnspecifiedMatching -DOID:0112242 congenital symmetric circumferential skin creases 1 skos:exactMatch OMIM:156610 semapv:UnspecifiedMatching -DOID:0112243 congenital symmetric circumferential skin creases 2 oboInOwl:hasDbXref OMIM:616734 semapv:UnspecifiedMatching -DOID:0112243 congenital symmetric circumferential skin creases 2 skos:exactMatch OMIM:616734 semapv:UnspecifiedMatching DOID:0112244 alopecia, neurologic defects, and endocrinopathy syndrome oboInOwl:hasDbXref MESH:C567425 semapv:UnspecifiedMatching -DOID:0112244 alopecia, neurologic defects, and endocrinopathy syndrome oboInOwl:hasDbXref OMIM:612079 semapv:UnspecifiedMatching DOID:0112244 alopecia, neurologic defects, and endocrinopathy syndrome oboInOwl:hasDbXref ORDO:157954 semapv:UnspecifiedMatching -DOID:0112244 alopecia, neurologic defects, and endocrinopathy syndrome skos:exactMatch OMIM:612079 semapv:UnspecifiedMatching -DOID:0112245 focal segmental glomerulosclerosis 3 oboInOwl:hasDbXref OMIM:607832 semapv:UnspecifiedMatching -DOID:0112245 focal segmental glomerulosclerosis 3 skos:exactMatch OMIM:607832 semapv:UnspecifiedMatching DOID:0112246 glutaric acidemia type 3 oboInOwl:hasDbXref GARD:12469 semapv:UnspecifiedMatching -DOID:0112246 glutaric acidemia type 3 oboInOwl:hasDbXref OMIM:231690 semapv:UnspecifiedMatching DOID:0112246 glutaric acidemia type 3 oboInOwl:hasDbXref ORDO:35706 semapv:UnspecifiedMatching -DOID:0112246 glutaric acidemia type 3 skos:exactMatch OMIM:231690 semapv:UnspecifiedMatching -DOID:0112247 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder oboInOwl:hasDbXref OMIM:617360 semapv:UnspecifiedMatching -DOID:0112247 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder skos:exactMatch OMIM:617360 semapv:UnspecifiedMatching DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency oboInOwl:hasDbXref GARD:5659 semapv:UnspecifiedMatching -DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency oboInOwl:hasDbXref OMIM:264300 semapv:UnspecifiedMatching DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency oboInOwl:hasDbXref ORDO:752 semapv:UnspecifiedMatching -DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency skos:exactMatch OMIM:264300 semapv:UnspecifiedMatching -DOID:0112249 GAPO syndrome oboInOwl:hasDbXref OMIM:230740 semapv:UnspecifiedMatching DOID:0112249 GAPO syndrome oboInOwl:hasDbXref ORDO:2067 semapv:UnspecifiedMatching -DOID:0112249 GAPO syndrome skos:exactMatch OMIM:230740 semapv:UnspecifiedMatching -DOID:0112250 Gaucher's disease type IIIC oboInOwl:hasDbXref OMIM:231005 semapv:UnspecifiedMatching DOID:0112250 Gaucher's disease type IIIC oboInOwl:hasDbXref ORDO:2072 semapv:UnspecifiedMatching -DOID:0112250 Gaucher's disease type IIIC skos:exactMatch OMIM:231005 semapv:UnspecifiedMatching DOID:0112251 Ghosal hematodiaphyseal syndrome oboInOwl:hasDbXref GARD:10297 semapv:UnspecifiedMatching -DOID:0112251 Ghosal hematodiaphyseal syndrome oboInOwl:hasDbXref OMIM:231095 semapv:UnspecifiedMatching DOID:0112251 Ghosal hematodiaphyseal syndrome oboInOwl:hasDbXref ORDO:1802 semapv:UnspecifiedMatching -DOID:0112251 Ghosal hematodiaphyseal syndrome skos:exactMatch OMIM:231095 semapv:UnspecifiedMatching -DOID:0112252 glutathione synthetase deficiency of erythrocytes oboInOwl:hasDbXref OMIM:231900 semapv:UnspecifiedMatching DOID:0112252 glutathione synthetase deficiency of erythrocytes oboInOwl:hasDbXref ORDO:289849 semapv:UnspecifiedMatching -DOID:0112252 glutathione synthetase deficiency of erythrocytes skos:exactMatch OMIM:231900 semapv:UnspecifiedMatching DOID:0112253 combined cellular and humoral immune defects with granulomas oboInOwl:hasDbXref GARD:13587 semapv:UnspecifiedMatching DOID:0112253 combined cellular and humoral immune defects with granulomas oboInOwl:hasDbXref MESH:C567115 semapv:UnspecifiedMatching -DOID:0112253 combined cellular and humoral immune defects with granulomas oboInOwl:hasDbXref OMIM:233650 semapv:UnspecifiedMatching DOID:0112253 combined cellular and humoral immune defects with granulomas oboInOwl:hasDbXref ORDO:157949 semapv:UnspecifiedMatching -DOID:0112253 combined cellular and humoral immune defects with granulomas skos:exactMatch OMIM:233650 semapv:UnspecifiedMatching DOID:0112254 hepatic venoocclusive disease with immunodeficiency oboInOwl:hasDbXref GARD:10083 semapv:UnspecifiedMatching DOID:0112254 hepatic venoocclusive disease with immunodeficiency oboInOwl:hasDbXref MESH:C537257 semapv:UnspecifiedMatching -DOID:0112254 hepatic venoocclusive disease with immunodeficiency oboInOwl:hasDbXref OMIM:235550 semapv:UnspecifiedMatching DOID:0112254 hepatic venoocclusive disease with immunodeficiency oboInOwl:hasDbXref ORDO:79124 semapv:UnspecifiedMatching -DOID:0112254 hepatic venoocclusive disease with immunodeficiency skos:exactMatch OMIM:235550 semapv:UnspecifiedMatching -DOID:0112255 homocystinuria-megaloblastic anemia cblE type oboInOwl:hasDbXref OMIM:236270 semapv:UnspecifiedMatching DOID:0112255 homocystinuria-megaloblastic anemia cblE type oboInOwl:hasDbXref ORDO:2169 semapv:UnspecifiedMatching -DOID:0112255 homocystinuria-megaloblastic anemia cblE type skos:exactMatch OMIM:236270 semapv:UnspecifiedMatching DOID:0112256 homocystinuria-megaloblastic anemia cblG type oboInOwl:hasDbXref GARD:3577 semapv:UnspecifiedMatching -DOID:0112256 homocystinuria-megaloblastic anemia cblG type oboInOwl:hasDbXref OMIM:250940 semapv:UnspecifiedMatching DOID:0112256 homocystinuria-megaloblastic anemia cblG type oboInOwl:hasDbXref ORDO:2170 semapv:UnspecifiedMatching -DOID:0112256 homocystinuria-megaloblastic anemia cblG type skos:exactMatch OMIM:250940 semapv:UnspecifiedMatching DOID:0112257 hydroxykynureninuria oboInOwl:hasDbXref GARD:10039 semapv:UnspecifiedMatching DOID:0112257 hydroxykynureninuria oboInOwl:hasDbXref MESH:C536081 semapv:UnspecifiedMatching -DOID:0112257 hydroxykynureninuria oboInOwl:hasDbXref OMIM:236800 semapv:UnspecifiedMatching DOID:0112257 hydroxykynureninuria oboInOwl:hasDbXref ORDO:79155 semapv:UnspecifiedMatching -DOID:0112257 hydroxykynureninuria skos:exactMatch OMIM:236800 semapv:UnspecifiedMatching DOID:0112258 N-acetylglutamate synthase deficiency oboInOwl:hasDbXref GARD:7158 semapv:UnspecifiedMatching -DOID:0112258 N-acetylglutamate synthase deficiency oboInOwl:hasDbXref OMIM:237310 semapv:UnspecifiedMatching DOID:0112258 N-acetylglutamate synthase deficiency oboInOwl:hasDbXref ORDO:927 semapv:UnspecifiedMatching -DOID:0112258 N-acetylglutamate synthase deficiency skos:exactMatch OMIM:237310 semapv:UnspecifiedMatching DOID:0112259 Leydig cell hypoplasia oboInOwl:hasDbXref GARD:3244 semapv:UnspecifiedMatching DOID:0112259 Leydig cell hypoplasia oboInOwl:hasDbXref MEDDRA:10024406 semapv:UnspecifiedMatching DOID:0112259 Leydig cell hypoplasia oboInOwl:hasDbXref MESH:C562567 semapv:UnspecifiedMatching DOID:0112259 Leydig cell hypoplasia oboInOwl:hasDbXref ORDO:755 semapv:UnspecifiedMatching -DOID:0112260 Leydig cell hypoplasia type I oboInOwl:hasDbXref OMIM:238320 semapv:UnspecifiedMatching DOID:0112260 Leydig cell hypoplasia type I oboInOwl:hasDbXref ORDO:96265 semapv:UnspecifiedMatching -DOID:0112260 Leydig cell hypoplasia type I skos:exactMatch OMIM:238320 semapv:UnspecifiedMatching DOID:0112261 Leydig cell hypoplasia type II oboInOwl:hasDbXref ORDO:96266 semapv:UnspecifiedMatching DOID:0112262 leucine-sensitive hypoglycemia of infancy oboInOwl:hasDbXref GARD:9915 semapv:UnspecifiedMatching -DOID:0112262 leucine-sensitive hypoglycemia of infancy oboInOwl:hasDbXref OMIM:240800 semapv:UnspecifiedMatching -DOID:0112262 leucine-sensitive hypoglycemia of infancy skos:exactMatch OMIM:240800 semapv:UnspecifiedMatching -DOID:0112263 hypoinsulinemic hypoglycemia with hemihypertrophy oboInOwl:hasDbXref OMIM:240900 semapv:UnspecifiedMatching DOID:0112263 hypoinsulinemic hypoglycemia with hemihypertrophy oboInOwl:hasDbXref ORDO:293964 semapv:UnspecifiedMatching -DOID:0112263 hypoinsulinemic hypoglycemia with hemihypertrophy skos:exactMatch OMIM:240900 semapv:UnspecifiedMatching DOID:0112264 Woodhouse-Sakati syndrome oboInOwl:hasDbXref GARD:5592 semapv:UnspecifiedMatching DOID:0112264 Woodhouse-Sakati syndrome oboInOwl:hasDbXref MESH:C536742 semapv:UnspecifiedMatching -DOID:0112264 Woodhouse-Sakati syndrome oboInOwl:hasDbXref OMIM:241080 semapv:UnspecifiedMatching DOID:0112264 Woodhouse-Sakati syndrome oboInOwl:hasDbXref ORDO:3464 semapv:UnspecifiedMatching -DOID:0112264 Woodhouse-Sakati syndrome skos:exactMatch OMIM:241080 semapv:UnspecifiedMatching DOID:0112265 iminoglycinuria oboInOwl:hasDbXref GARD:8424 semapv:UnspecifiedMatching DOID:0112265 iminoglycinuria oboInOwl:hasDbXref MESH:C536285 semapv:UnspecifiedMatching -DOID:0112265 iminoglycinuria oboInOwl:hasDbXref OMIM:242600 semapv:UnspecifiedMatching DOID:0112265 iminoglycinuria oboInOwl:hasDbXref ORDO:42062 semapv:UnspecifiedMatching -DOID:0112265 iminoglycinuria skos:exactMatch OMIM:242600 semapv:UnspecifiedMatching -DOID:0112266 nephrotic syndrome type 23 oboInOwl:hasDbXref OMIM:619201 semapv:UnspecifiedMatching -DOID:0112266 nephrotic syndrome type 23 skos:exactMatch OMIM:619201 semapv:UnspecifiedMatching -DOID:0112267 nephrotic syndrome type 21 oboInOwl:hasDbXref OMIM:618594 semapv:UnspecifiedMatching -DOID:0112267 nephrotic syndrome type 21 skos:exactMatch OMIM:618594 semapv:UnspecifiedMatching -DOID:0112268 nephrotic syndrome type 22 oboInOwl:hasDbXref OMIM:619155 semapv:UnspecifiedMatching -DOID:0112268 nephrotic syndrome type 22 skos:exactMatch OMIM:619155 semapv:UnspecifiedMatching -DOID:0112269 primary ovarian insufficiency 18 oboInOwl:hasDbXref OMIM:619203 semapv:UnspecifiedMatching -DOID:0112269 primary ovarian insufficiency 18 skos:exactMatch OMIM:619203 semapv:UnspecifiedMatching -DOID:0112270 spermatogenic failure 52 oboInOwl:hasDbXref OMIM:619202 semapv:UnspecifiedMatching -DOID:0112270 spermatogenic failure 52 skos:exactMatch OMIM:619202 semapv:UnspecifiedMatching -DOID:0112271 spermatogenic failure 49 oboInOwl:hasDbXref OMIM:619144 semapv:UnspecifiedMatching -DOID:0112271 spermatogenic failure 49 skos:exactMatch OMIM:619144 semapv:UnspecifiedMatching -DOID:0112272 spermatogenic failure 50 oboInOwl:hasDbXref OMIM:619145 semapv:UnspecifiedMatching -DOID:0112272 spermatogenic failure 50 skos:exactMatch OMIM:619145 semapv:UnspecifiedMatching -DOID:0112273 spermatogenic failure 51 oboInOwl:hasDbXref OMIM:619177 semapv:UnspecifiedMatching -DOID:0112273 spermatogenic failure 51 skos:exactMatch OMIM:619177 semapv:UnspecifiedMatching -DOID:0112274 X-linked spermatogenic failure 3 oboInOwl:hasDbXref OMIM:301059 semapv:UnspecifiedMatching -DOID:0112274 X-linked spermatogenic failure 3 skos:exactMatch OMIM:301059 semapv:UnspecifiedMatching -DOID:0112275 developmental and epileptic encephalopathy 93 oboInOwl:hasDbXref OMIM:618012 semapv:UnspecifiedMatching -DOID:0112275 developmental and epileptic encephalopathy 93 skos:exactMatch OMIM:618012 semapv:UnspecifiedMatching -DOID:0112276 neurodevelopmental disorder with involuntary movements oboInOwl:hasDbXref OMIM:617493 semapv:UnspecifiedMatching -DOID:0112276 neurodevelopmental disorder with involuntary movements skos:exactMatch OMIM:617493 semapv:UnspecifiedMatching -DOID:0112277 immunodeficiency 79 oboInOwl:hasDbXref OMIM:619238 semapv:UnspecifiedMatching -DOID:0112277 immunodeficiency 79 skos:exactMatch OMIM:619238 semapv:UnspecifiedMatching -DOID:0112278 primary ovarian insufficiency 19 oboInOwl:hasDbXref OMIM:619245 semapv:UnspecifiedMatching -DOID:0112278 primary ovarian insufficiency 19 skos:exactMatch OMIM:619245 semapv:UnspecifiedMatching -DOID:0112279 spermatogenic failure 53 oboInOwl:hasDbXref OMIM:619258 semapv:UnspecifiedMatching -DOID:0112279 spermatogenic failure 53 skos:exactMatch OMIM:619258 semapv:UnspecifiedMatching DOID:0112280 spondyloepiphyseal dysplasia oboInOwl:hasDbXref GARD:7687 semapv:UnspecifiedMatching -DOID:0112281 spondyloepiphyseal dysplasia Stanescu type oboInOwl:hasDbXref OMIM:616583 semapv:UnspecifiedMatching DOID:0112281 spondyloepiphyseal dysplasia Stanescu type oboInOwl:hasDbXref ORDO:459051 semapv:UnspecifiedMatching -DOID:0112281 spondyloepiphyseal dysplasia Stanescu type skos:exactMatch OMIM:616583 semapv:UnspecifiedMatching DOID:0112282 spondyloepiphyseal dysplasia Kimberley type oboInOwl:hasDbXref MESH:C564252 semapv:UnspecifiedMatching -DOID:0112282 spondyloepiphyseal dysplasia Kimberley type oboInOwl:hasDbXref OMIM:608361 semapv:UnspecifiedMatching DOID:0112282 spondyloepiphyseal dysplasia Kimberley type oboInOwl:hasDbXref ORDO:93283 semapv:UnspecifiedMatching DOID:0112282 spondyloepiphyseal dysplasia Kimberley type oboInOwl:hasDbXref UMLS:C1842149 semapv:UnspecifiedMatching -DOID:0112282 spondyloepiphyseal dysplasia Kimberley type skos:exactMatch OMIM:608361 semapv:UnspecifiedMatching -DOID:0112283 spondyloepiphyseal dysplasia Kondo-Fu type oboInOwl:hasDbXref OMIM:618392 semapv:UnspecifiedMatching -DOID:0112283 spondyloepiphyseal dysplasia Kondo-Fu type skos:exactMatch OMIM:618392 semapv:UnspecifiedMatching DOID:0112284 spondyloepiphyseal dysplasia tarda oboInOwl:hasDbXref ORDO:93284 semapv:UnspecifiedMatching DOID:0112285 autosomal dominant spondyloepiphyseal dysplasia tarda oboInOwl:hasDbXref GARD:10624 semapv:UnspecifiedMatching -DOID:0112285 autosomal dominant spondyloepiphyseal dysplasia tarda oboInOwl:hasDbXref OMIM:184100 semapv:UnspecifiedMatching -DOID:0112285 autosomal dominant spondyloepiphyseal dysplasia tarda skos:exactMatch OMIM:184100 semapv:UnspecifiedMatching DOID:0112286 spondyloepiphyseal dysplasia with punctate corneal dystrophy oboInOwl:hasDbXref MESH:C566660 semapv:UnspecifiedMatching -DOID:0112286 spondyloepiphyseal dysplasia with punctate corneal dystrophy oboInOwl:hasDbXref OMIM:183850 semapv:UnspecifiedMatching -DOID:0112286 spondyloepiphyseal dysplasia with punctate corneal dystrophy skos:exactMatch OMIM:183850 semapv:UnspecifiedMatching DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech oboInOwl:hasDbXref GARD:10629 semapv:UnspecifiedMatching DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech oboInOwl:hasDbXref MESH:C567128 semapv:UnspecifiedMatching -DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech oboInOwl:hasDbXref OMIM:611717 semapv:UnspecifiedMatching DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech oboInOwl:hasDbXref ORDO:163654 semapv:UnspecifiedMatching DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech oboInOwl:hasDbXref UMLS:C2673649 semapv:UnspecifiedMatching -DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech skos:exactMatch OMIM:611717 semapv:UnspecifiedMatching -DOID:0112288 spondyloepiphyseal dysplasia Nishimura type oboInOwl:hasDbXref OMIM:618618 semapv:UnspecifiedMatching -DOID:0112288 spondyloepiphyseal dysplasia Nishimura type skos:exactMatch OMIM:618618 semapv:UnspecifiedMatching DOID:0112289 spondyloepiphyseal dysplasia tarda with characteristic facies oboInOwl:hasDbXref MESH:C564003 semapv:UnspecifiedMatching -DOID:0112289 spondyloepiphyseal dysplasia tarda with characteristic facies oboInOwl:hasDbXref OMIM:600093 semapv:UnspecifiedMatching -DOID:0112289 spondyloepiphyseal dysplasia tarda with characteristic facies skos:exactMatch OMIM:600093 semapv:UnspecifiedMatching -DOID:0112290 spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis oboInOwl:hasDbXref OMIM:619260 semapv:UnspecifiedMatching -DOID:0112290 spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis skos:exactMatch OMIM:619260 semapv:UnspecifiedMatching -DOID:0112291 autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type oboInOwl:hasDbXref OMIM:609223 semapv:UnspecifiedMatching -DOID:0112291 autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type skos:exactMatch OMIM:609223 semapv:UnspecifiedMatching DOID:0112292 spondyloepiphyseal dysplasia tarda with intellectual disability oboInOwl:hasDbXref MESH:C564796 semapv:UnspecifiedMatching -DOID:0112292 spondyloepiphyseal dysplasia tarda with intellectual disability oboInOwl:hasDbXref OMIM:271620 semapv:UnspecifiedMatching DOID:0112292 spondyloepiphyseal dysplasia tarda with intellectual disability oboInOwl:hasDbXref ORDO:163665 semapv:UnspecifiedMatching DOID:0112292 spondyloepiphyseal dysplasia tarda with intellectual disability oboInOwl:hasDbXref UMLS:C1849053 semapv:UnspecifiedMatching -DOID:0112292 spondyloepiphyseal dysplasia tarda with intellectual disability skos:exactMatch OMIM:271620 semapv:UnspecifiedMatching -DOID:0112293 autosomal recessive spondyloepiphyseal dysplasia tarda oboInOwl:hasDbXref OMIM:271600 semapv:UnspecifiedMatching -DOID:0112293 autosomal recessive spondyloepiphyseal dysplasia tarda skos:exactMatch OMIM:271600 semapv:UnspecifiedMatching -DOID:0112294 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability oboInOwl:hasDbXref OMIM:602611 semapv:UnspecifiedMatching DOID:0112294 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability oboInOwl:hasDbXref ORDO:163649 semapv:UnspecifiedMatching -DOID:0112294 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability skos:exactMatch OMIM:602611 semapv:UnspecifiedMatching DOID:0112295 spondylometaphyseal dysplasia oboInOwl:hasDbXref ORDO:254 semapv:UnspecifiedMatching DOID:0112296 spondylometaphyseal dysplasia Algerian type oboInOwl:hasDbXref GARD:504 semapv:UnspecifiedMatching DOID:0112296 spondylometaphyseal dysplasia Algerian type oboInOwl:hasDbXref MESH:C535794 semapv:UnspecifiedMatching -DOID:0112296 spondylometaphyseal dysplasia Algerian type oboInOwl:hasDbXref OMIM:184253 semapv:UnspecifiedMatching DOID:0112296 spondylometaphyseal dysplasia Algerian type oboInOwl:hasDbXref ORDO:93316 semapv:UnspecifiedMatching DOID:0112296 spondylometaphyseal dysplasia Algerian type oboInOwl:hasDbXref UMLS:C1866688 semapv:UnspecifiedMatching -DOID:0112296 spondylometaphyseal dysplasia Algerian type skos:exactMatch OMIM:184253 semapv:UnspecifiedMatching DOID:0112297 spondylometaphyseal dysplasia corner fracture type oboInOwl:hasDbXref GARD:4991 semapv:UnspecifiedMatching DOID:0112297 spondylometaphyseal dysplasia corner fracture type oboInOwl:hasDbXref MESH:C535793 semapv:UnspecifiedMatching -DOID:0112297 spondylometaphyseal dysplasia corner fracture type oboInOwl:hasDbXref OMIM:184255 semapv:UnspecifiedMatching DOID:0112297 spondylometaphyseal dysplasia corner fracture type oboInOwl:hasDbXref ORDO:93315 semapv:UnspecifiedMatching DOID:0112297 spondylometaphyseal dysplasia corner fracture type oboInOwl:hasDbXref UMLS:C0432221 semapv:UnspecifiedMatching -DOID:0112297 spondylometaphyseal dysplasia corner fracture type skos:exactMatch OMIM:184255 semapv:UnspecifiedMatching DOID:0112298 spondylometaphyseal dysplasia Sedaghatian type oboInOwl:hasDbXref GARD:4993 semapv:UnspecifiedMatching DOID:0112298 spondylometaphyseal dysplasia Sedaghatian type oboInOwl:hasDbXref MESH:C535798 semapv:UnspecifiedMatching -DOID:0112298 spondylometaphyseal dysplasia Sedaghatian type oboInOwl:hasDbXref OMIM:250220 semapv:UnspecifiedMatching DOID:0112298 spondylometaphyseal dysplasia Sedaghatian type oboInOwl:hasDbXref ORDO:93317 semapv:UnspecifiedMatching DOID:0112298 spondylometaphyseal dysplasia Sedaghatian type oboInOwl:hasDbXref UMLS:C1855229 semapv:UnspecifiedMatching -DOID:0112298 spondylometaphyseal dysplasia Sedaghatian type skos:exactMatch OMIM:250220 semapv:UnspecifiedMatching DOID:0112299 axial spondylometaphyseal dysplasia oboInOwl:hasDbXref GARD:8720 semapv:UnspecifiedMatching DOID:0112299 axial spondylometaphyseal dysplasia oboInOwl:hasDbXref MESH:C535795 semapv:UnspecifiedMatching -DOID:0112299 axial spondylometaphyseal dysplasia oboInOwl:hasDbXref OMIM:602271 semapv:UnspecifiedMatching DOID:0112299 axial spondylometaphyseal dysplasia oboInOwl:hasDbXref ORDO:168549 semapv:UnspecifiedMatching DOID:0112299 axial spondylometaphyseal dysplasia oboInOwl:hasDbXref UMLS:C1865695 semapv:UnspecifiedMatching -DOID:0112299 axial spondylometaphyseal dysplasia skos:exactMatch OMIM:602271 semapv:UnspecifiedMatching DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy oboInOwl:hasDbXref GARD:10647 semapv:UnspecifiedMatching DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy oboInOwl:hasDbXref MESH:C563825 semapv:UnspecifiedMatching -DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy oboInOwl:hasDbXref OMIM:608940 semapv:UnspecifiedMatching DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy oboInOwl:hasDbXref ORDO:85167 semapv:UnspecifiedMatching DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy oboInOwl:hasDbXref UMLS:C1837073 semapv:UnspecifiedMatching -DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy skos:exactMatch OMIM:608940 semapv:UnspecifiedMatching DOID:0112301 spondylometaphyseal dysplasia type A4 oboInOwl:hasDbXref GARD:458 semapv:UnspecifiedMatching DOID:0112301 spondylometaphyseal dysplasia type A4 oboInOwl:hasDbXref MESH:C563803 semapv:UnspecifiedMatching -DOID:0112301 spondylometaphyseal dysplasia type A4 oboInOwl:hasDbXref OMIM:609052 semapv:UnspecifiedMatching DOID:0112301 spondylometaphyseal dysplasia type A4 oboInOwl:hasDbXref ORDO:168555 semapv:UnspecifiedMatching DOID:0112301 spondylometaphyseal dysplasia type A4 oboInOwl:hasDbXref UMLS:C1836862 semapv:UnspecifiedMatching -DOID:0112301 spondylometaphyseal dysplasia type A4 skos:exactMatch OMIM:609052 semapv:UnspecifiedMatching DOID:0112302 spondylometaphyseal dysplasia East African type oboInOwl:hasDbXref GARD:4992 semapv:UnspecifiedMatching -DOID:0112302 spondylometaphyseal dysplasia East African type oboInOwl:hasDbXref OMIM:611702 semapv:UnspecifiedMatching -DOID:0112302 spondylometaphyseal dysplasia East African type skos:exactMatch OMIM:611702 semapv:UnspecifiedMatching -DOID:0112303 spondylometaphyseal dysplasia with corneal dystrophy oboInOwl:hasDbXref OMIM:618961 semapv:UnspecifiedMatching -DOID:0112303 spondylometaphyseal dysplasia with corneal dystrophy skos:exactMatch OMIM:618961 semapv:UnspecifiedMatching -DOID:0112304 spondylometaphyseal dysplasia Megarbane-Dagher-Melike type oboInOwl:hasDbXref OMIM:613320 semapv:UnspecifiedMatching DOID:0112304 spondylometaphyseal dysplasia Megarbane-Dagher-Melike type oboInOwl:hasDbXref ORDO:401979 semapv:UnspecifiedMatching -DOID:0112304 spondylometaphyseal dysplasia Megarbane-Dagher-Melike type skos:exactMatch OMIM:613320 semapv:UnspecifiedMatching DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism oboInOwl:hasDbXref GARD:8719 semapv:UnspecifiedMatching DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism oboInOwl:hasDbXref MESH:C535791 semapv:UnspecifiedMatching -DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism oboInOwl:hasDbXref OMIM:607543 semapv:UnspecifiedMatching DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism oboInOwl:hasDbXref ORDO:168552 semapv:UnspecifiedMatching DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism oboInOwl:hasDbXref UMLS:C1843706 semapv:UnspecifiedMatching -DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism skos:exactMatch OMIM:607543 semapv:UnspecifiedMatching DOID:0112306 Mahvash Disease oboInOwl:hasDbXref GARD:10460 semapv:UnspecifiedMatching -DOID:0112306 Mahvash Disease oboInOwl:hasDbXref OMIM:619290 semapv:UnspecifiedMatching DOID:0112306 Mahvash Disease oboInOwl:hasDbXref ORDO:438274 semapv:UnspecifiedMatching -DOID:0112306 Mahvash Disease skos:exactMatch OMIM:619290 semapv:UnspecifiedMatching -DOID:0112306 Mahvash Disease skos:exactMatch OMIM:619290 semapv:UnspecifiedMatching DOID:0112307 sarcosinemia oboInOwl:hasDbXref GARD:158 semapv:UnspecifiedMatching DOID:0112307 sarcosinemia oboInOwl:hasDbXref ICD10CM:E72.59 semapv:UnspecifiedMatching DOID:0112307 sarcosinemia oboInOwl:hasDbXref MEDDRA:10059299 semapv:UnspecifiedMatching DOID:0112307 sarcosinemia oboInOwl:hasDbXref MESH:C537236 semapv:UnspecifiedMatching -DOID:0112307 sarcosinemia oboInOwl:hasDbXref OMIM:268900 semapv:UnspecifiedMatching DOID:0112307 sarcosinemia oboInOwl:hasDbXref ORDO:3129 semapv:UnspecifiedMatching DOID:0112307 sarcosinemia oboInOwl:hasDbXref UMLS:C0268563 semapv:UnspecifiedMatching -DOID:0112307 sarcosinemia skos:exactMatch OMIM:268900 semapv:UnspecifiedMatching DOID:0112308 central precocious puberty oboInOwl:hasDbXref ICD10CM:E22.8 semapv:UnspecifiedMatching DOID:0112308 central precocious puberty oboInOwl:hasDbXref MESH:D011629 semapv:UnspecifiedMatching DOID:0112308 central precocious puberty oboInOwl:hasDbXref NCI:C113217 semapv:UnspecifiedMatching DOID:0112308 central precocious puberty oboInOwl:hasDbXref ORDO:759 semapv:UnspecifiedMatching DOID:0112308 central precocious puberty oboInOwl:hasDbXref UMLS:C0342543 semapv:UnspecifiedMatching -DOID:0112309 central precocious puberty 2 oboInOwl:hasDbXref OMIM:615346 semapv:UnspecifiedMatching -DOID:0112309 central precocious puberty 2 skos:exactMatch OMIM:615346 semapv:UnspecifiedMatching -DOID:0112310 central precocious puberty 1 oboInOwl:hasDbXref OMIM:176400 semapv:UnspecifiedMatching -DOID:0112310 central precocious puberty 1 skos:exactMatch OMIM:176400 semapv:UnspecifiedMatching DOID:0112311 male infertility due to acephalic spermatozoa oboInOwl:hasDbXref ORDO:529970 semapv:UnspecifiedMatching DOID:0112312 male infertility due to globozoospermia oboInOwl:hasDbXref GARD:12502 semapv:UnspecifiedMatching DOID:0112312 male infertility due to globozoospermia oboInOwl:hasDbXref ORDO:171709 semapv:UnspecifiedMatching -DOID:0112313 brain small vessel disease oboInOwl:hasDbXref OMIMPS:175780 semapv:UnspecifiedMatching -DOID:0112313 brain small vessel disease skos:exactMatch OMIMPS:175780 semapv:UnspecifiedMatching -DOID:0112314 brain small vessel disease 2 oboInOwl:hasDbXref OMIM:614483 semapv:UnspecifiedMatching -DOID:0112314 brain small vessel disease 2 skos:exactMatch OMIM:614483 semapv:UnspecifiedMatching -DOID:0112315 brain small vessel disease 3 oboInOwl:hasDbXref OMIM:618360 semapv:UnspecifiedMatching -DOID:0112315 brain small vessel disease 3 skos:exactMatch OMIM:618360 semapv:UnspecifiedMatching -DOID:0112316 methemoglobinemia and ambiguous genitalia oboInOwl:hasDbXref OMIM:250790 semapv:UnspecifiedMatching -DOID:0112316 methemoglobinemia and ambiguous genitalia skos:exactMatch OMIM:250790 semapv:UnspecifiedMatching DOID:0112317 Schindler disease oboInOwl:hasDbXref ORDO:3137 semapv:UnspecifiedMatching DOID:0112318 Schindler disease type 1 oboInOwl:hasDbXref GARD:116 semapv:UnspecifiedMatching -DOID:0112318 Schindler disease type 1 oboInOwl:hasDbXref OMIM:609241 semapv:UnspecifiedMatching DOID:0112318 Schindler disease type 1 oboInOwl:hasDbXref ORDO:79279 semapv:UnspecifiedMatching -DOID:0112318 Schindler disease type 1 skos:exactMatch OMIM:609241 semapv:UnspecifiedMatching DOID:0112319 Kanzaki disease oboInOwl:hasDbXref GARD:9161 semapv:UnspecifiedMatching -DOID:0112319 Kanzaki disease oboInOwl:hasDbXref OMIM:609242 semapv:UnspecifiedMatching DOID:0112319 Kanzaki disease oboInOwl:hasDbXref ORDO:79280 semapv:UnspecifiedMatching -DOID:0112319 Kanzaki disease skos:exactMatch OMIM:609242 semapv:UnspecifiedMatching DOID:0112320 Schindler disease type 3 oboInOwl:hasDbXref GARD:3903 semapv:UnspecifiedMatching DOID:0112320 Schindler disease type 3 oboInOwl:hasDbXref ORDO:79281 semapv:UnspecifiedMatching -DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome oboInOwl:hasDbXref OMIM:615510 semapv:UnspecifiedMatching -DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome skos:exactMatch OMIM:615510 semapv:UnspecifiedMatching DOID:0112322 pontocerebellar hypoplasia type 1 oboInOwl:hasDbXref GARD:10704 semapv:UnspecifiedMatching DOID:0112322 pontocerebellar hypoplasia type 1 oboInOwl:hasDbXref MESH:C548069 semapv:UnspecifiedMatching DOID:0112322 pontocerebellar hypoplasia type 1 oboInOwl:hasDbXref ORDO:2254 semapv:UnspecifiedMatching -DOID:0112323 pontocerebellar hypoplasia type 1D oboInOwl:hasDbXref OMIM:618065 semapv:UnspecifiedMatching -DOID:0112323 pontocerebellar hypoplasia type 1D skos:exactMatch OMIM:618065 semapv:UnspecifiedMatching -DOID:0112324 pontocerebellar hypoplasia type 11 oboInOwl:hasDbXref OMIM:617695 semapv:UnspecifiedMatching DOID:0112324 pontocerebellar hypoplasia type 11 oboInOwl:hasDbXref ORDO:611247 semapv:UnspecifiedMatching -DOID:0112324 pontocerebellar hypoplasia type 11 skos:exactMatch OMIM:617695 semapv:UnspecifiedMatching -DOID:0112325 pontocerebellar hypoplasia type 14 oboInOwl:hasDbXref OMIM:619301 semapv:UnspecifiedMatching -DOID:0112325 pontocerebellar hypoplasia type 14 skos:exactMatch OMIM:619301 semapv:UnspecifiedMatching -DOID:0112326 pontocerebellar hypoplasia type 15 oboInOwl:hasDbXref OMIM:619302 semapv:UnspecifiedMatching -DOID:0112326 pontocerebellar hypoplasia type 15 skos:exactMatch OMIM:619302 semapv:UnspecifiedMatching -DOID:0112327 pontocerebellar hypoplasia type 12 oboInOwl:hasDbXref OMIM:618266 semapv:UnspecifiedMatching DOID:0112327 pontocerebellar hypoplasia type 12 oboInOwl:hasDbXref ORDO:611256 semapv:UnspecifiedMatching -DOID:0112327 pontocerebellar hypoplasia type 12 skos:exactMatch OMIM:618266 semapv:UnspecifiedMatching DOID:0112328 pontocerebellar hypoplasia type 2 oboInOwl:hasDbXref GARD:10705 semapv:UnspecifiedMatching DOID:0112328 pontocerebellar hypoplasia type 2 oboInOwl:hasDbXref MESH:C548070 semapv:UnspecifiedMatching DOID:0112328 pontocerebellar hypoplasia type 2 oboInOwl:hasDbXref ORDO:2524 semapv:UnspecifiedMatching -DOID:0112329 pontocerebellar hypoplasia type 2F oboInOwl:hasDbXref OMIM:617026 semapv:UnspecifiedMatching -DOID:0112329 pontocerebellar hypoplasia type 2F skos:exactMatch OMIM:617026 semapv:UnspecifiedMatching -DOID:0112330 pontocerebellar hypoplasia type 1E oboInOwl:hasDbXref OMIM:619303 semapv:UnspecifiedMatching -DOID:0112330 pontocerebellar hypoplasia type 1E skos:exactMatch OMIM:619303 semapv:UnspecifiedMatching -DOID:0112331 pontocerebellar hypoplasia type 1F oboInOwl:hasDbXref OMIM:619304 semapv:UnspecifiedMatching -DOID:0112331 pontocerebellar hypoplasia type 1F skos:exactMatch OMIM:619304 semapv:UnspecifiedMatching -DOID:0112332 pontocerebellar hypoplasia type 13 oboInOwl:hasDbXref OMIM:618606 semapv:UnspecifiedMatching -DOID:0112332 pontocerebellar hypoplasia type 13 skos:exactMatch OMIM:618606 semapv:UnspecifiedMatching -DOID:0112333 pontocerebellar hypoplasia type 16 oboInOwl:hasDbXref OMIM:619527 semapv:UnspecifiedMatching -DOID:0112333 pontocerebellar hypoplasia type 16 skos:exactMatch OMIM:619527 semapv:UnspecifiedMatching -DOID:0112334 pontocerebellar hypoplasia type 1C oboInOwl:hasDbXref OMIM:616081 semapv:UnspecifiedMatching -DOID:0112334 pontocerebellar hypoplasia type 1C skos:exactMatch OMIM:616081 semapv:UnspecifiedMatching -DOID:0112335 spermatogenic failure 54 oboInOwl:hasDbXref OMIM:619379 semapv:UnspecifiedMatching -DOID:0112335 spermatogenic failure 54 skos:exactMatch OMIM:619379 semapv:UnspecifiedMatching -DOID:0112336 spermatogenic failure 56 oboInOwl:hasDbXref OMIM:619515 semapv:UnspecifiedMatching -DOID:0112336 spermatogenic failure 56 skos:exactMatch OMIM:619515 semapv:UnspecifiedMatching -DOID:0112337 spermatogenic failure 55 oboInOwl:hasDbXref OMIM:619380 semapv:UnspecifiedMatching -DOID:0112337 spermatogenic failure 55 skos:exactMatch OMIM:619380 semapv:UnspecifiedMatching -DOID:0112338 spermatogenic failure 57 oboInOwl:hasDbXref OMIM:619528 semapv:UnspecifiedMatching -DOID:0112338 spermatogenic failure 57 skos:exactMatch OMIM:619528 semapv:UnspecifiedMatching -DOID:0112339 Tatton-Brown-Rahman syndrome oboInOwl:hasDbXref OMIM:615879 semapv:UnspecifiedMatching DOID:0112339 Tatton-Brown-Rahman syndrome oboInOwl:hasDbXref ORDO:404443 semapv:UnspecifiedMatching -DOID:0112339 Tatton-Brown-Rahman syndrome skos:exactMatch OMIM:615879 semapv:UnspecifiedMatching -DOID:0112340 craniotubular dysplasia Ikegawa type oboInOwl:hasDbXref OMIM:619727 semapv:UnspecifiedMatching -DOID:0112340 craniotubular dysplasia Ikegawa type skos:exactMatch OMIM:619727 semapv:UnspecifiedMatching -DOID:0112341 hereditary spastic paraplegia 80 oboInOwl:hasDbXref OMIM:618418 semapv:UnspecifiedMatching -DOID:0112341 hereditary spastic paraplegia 80 skos:exactMatch OMIM:618418 semapv:UnspecifiedMatching -DOID:0112342 hereditary spastic paraplegia 86 oboInOwl:hasDbXref OMIM:619735 semapv:UnspecifiedMatching -DOID:0112342 hereditary spastic paraplegia 86 skos:exactMatch OMIM:619735 semapv:UnspecifiedMatching -DOID:0112343 hereditary spastic paraplegia 82 oboInOwl:hasDbXref OMIM:618770 semapv:UnspecifiedMatching -DOID:0112343 hereditary spastic paraplegia 82 skos:exactMatch OMIM:618770 semapv:UnspecifiedMatching -DOID:0112344 hereditary spastic paraplegia 79B oboInOwl:hasDbXref OMIM:615491 semapv:UnspecifiedMatching DOID:0112344 hereditary spastic paraplegia 79B oboInOwl:hasDbXref ORDO:352654 semapv:UnspecifiedMatching -DOID:0112344 hereditary spastic paraplegia 79B skos:exactMatch OMIM:615491 semapv:UnspecifiedMatching -DOID:0112345 hereditary spastic paraplegia 85 oboInOwl:hasDbXref OMIM:619686 semapv:UnspecifiedMatching -DOID:0112345 hereditary spastic paraplegia 85 skos:exactMatch OMIM:619686 semapv:UnspecifiedMatching -DOID:0112346 hereditary spastic paraplegia 83 oboInOwl:hasDbXref OMIM:619027 semapv:UnspecifiedMatching -DOID:0112346 hereditary spastic paraplegia 83 skos:exactMatch OMIM:619027 semapv:UnspecifiedMatching -DOID:0112347 hereditary spastic paraplegia 84 oboInOwl:hasDbXref OMIM:619621 semapv:UnspecifiedMatching -DOID:0112347 hereditary spastic paraplegia 84 skos:exactMatch OMIM:619621 semapv:UnspecifiedMatching -DOID:0112348 hereditary spastic paraplegia 78 oboInOwl:hasDbXref OMIM:617225 semapv:UnspecifiedMatching DOID:0112348 hereditary spastic paraplegia 78 oboInOwl:hasDbXref ORDO:513436 semapv:UnspecifiedMatching -DOID:0112348 hereditary spastic paraplegia 78 skos:exactMatch OMIM:617225 semapv:UnspecifiedMatching -DOID:0112349 hereditary spastic paraplegia 81 oboInOwl:hasDbXref OMIM:618768 semapv:UnspecifiedMatching DOID:0112349 hereditary spastic paraplegia 81 oboInOwl:hasDbXref ORDO:506353 semapv:UnspecifiedMatching -DOID:0112349 hereditary spastic paraplegia 81 skos:exactMatch OMIM:618768 semapv:UnspecifiedMatching -DOID:0112350 spermatogenic failure 61 oboInOwl:hasDbXref OMIM:619672 semapv:UnspecifiedMatching -DOID:0112350 spermatogenic failure 61 skos:exactMatch OMIM:619672 semapv:UnspecifiedMatching -DOID:0112351 spermatogenic failure 62 oboInOwl:hasDbXref OMIM:619673 semapv:UnspecifiedMatching -DOID:0112351 spermatogenic failure 62 skos:exactMatch OMIM:619673 semapv:UnspecifiedMatching -DOID:0112352 spermatogenic failure 58 oboInOwl:hasDbXref OMIM:619585 semapv:UnspecifiedMatching -DOID:0112352 spermatogenic failure 58 skos:exactMatch OMIM:619585 semapv:UnspecifiedMatching -DOID:0112353 spermatogenic failure 64 oboInOwl:hasDbXref OMIM:619696 semapv:UnspecifiedMatching -DOID:0112353 spermatogenic failure 64 skos:exactMatch OMIM:619696 semapv:UnspecifiedMatching -DOID:0112354 spermatogenic failure 65 oboInOwl:hasDbXref OMIM:619712 semapv:UnspecifiedMatching -DOID:0112354 spermatogenic failure 65 skos:exactMatch OMIM:619712 semapv:UnspecifiedMatching -DOID:0112355 spermatogenic failure 60 oboInOwl:hasDbXref OMIM:619646 semapv:UnspecifiedMatching -DOID:0112355 spermatogenic failure 60 skos:exactMatch OMIM:619646 semapv:UnspecifiedMatching -DOID:0112356 spermatogenic failure 63 oboInOwl:hasDbXref OMIM:619689 semapv:UnspecifiedMatching -DOID:0112356 spermatogenic failure 63 skos:exactMatch OMIM:619689 semapv:UnspecifiedMatching -DOID:0112357 spermatogenic failure 59 oboInOwl:hasDbXref OMIM:619645 semapv:UnspecifiedMatching -DOID:0112357 spermatogenic failure 59 skos:exactMatch OMIM:619645 semapv:UnspecifiedMatching -DOID:0112358 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies oboInOwl:hasDbXref OMIM:619184 semapv:UnspecifiedMatching -DOID:0112358 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies skos:exactMatch OMIM:619184 semapv:UnspecifiedMatching -DOID:0112359 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay oboInOwl:hasDbXref OMIM:617641 semapv:UnspecifiedMatching -DOID:0112359 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay skos:exactMatch OMIM:617641 semapv:UnspecifiedMatching -DOID:0112360 spondylocostal dysostosis 6 oboInOwl:hasDbXref OMIM:616566 semapv:UnspecifiedMatching -DOID:0112360 spondylocostal dysostosis 6 skos:exactMatch OMIM:616566 semapv:UnspecifiedMatching -DOID:0112361 spondylocostal dysostosis 3 oboInOwl:hasDbXref OMIM:609813 semapv:UnspecifiedMatching -DOID:0112361 spondylocostal dysostosis 3 skos:exactMatch OMIM:609813 semapv:UnspecifiedMatching DOID:0112362 spondylocostal dysostosis 2 oboInOwl:hasDbXref GARD:6798 semapv:UnspecifiedMatching -DOID:0112362 spondylocostal dysostosis 2 oboInOwl:hasDbXref OMIM:608681 semapv:UnspecifiedMatching -DOID:0112362 spondylocostal dysostosis 2 skos:exactMatch OMIM:608681 semapv:UnspecifiedMatching -DOID:0112363 spondylocostal dysostosis 5 oboInOwl:hasDbXref OMIM:122600 semapv:UnspecifiedMatching -DOID:0112363 spondylocostal dysostosis 5 skos:exactMatch OMIM:122600 semapv:UnspecifiedMatching -DOID:0112364 spondylocostal dysostosis 4 oboInOwl:hasDbXref OMIM:613686 semapv:UnspecifiedMatching -DOID:0112364 spondylocostal dysostosis 4 skos:exactMatch OMIM:613686 semapv:UnspecifiedMatching -DOID:0112365 spondylocostal dysostosis 1 oboInOwl:hasDbXref OMIM:277300 semapv:UnspecifiedMatching -DOID:0112365 spondylocostal dysostosis 1 skos:exactMatch OMIM:277300 semapv:UnspecifiedMatching -DOID:0112367 Coffin-Siris syndrome 8 oboInOwl:hasDbXref OMIM:618362 semapv:UnspecifiedMatching -DOID:0112367 Coffin-Siris syndrome 8 skos:exactMatch OMIM:618362 semapv:UnspecifiedMatching -DOID:0112368 Coffin-Siris syndrome 5 oboInOwl:hasDbXref OMIM:616938 semapv:UnspecifiedMatching -DOID:0112368 Coffin-Siris syndrome 5 skos:exactMatch OMIM:616938 semapv:UnspecifiedMatching -DOID:0112369 Coffin-Siris syndrome 7 oboInOwl:hasDbXref OMIM:618027 semapv:UnspecifiedMatching -DOID:0112369 Coffin-Siris syndrome 7 skos:exactMatch OMIM:618027 semapv:UnspecifiedMatching -DOID:0112370 Coffin-Siris syndrome 12 oboInOwl:hasDbXref OMIM:619325 semapv:UnspecifiedMatching -DOID:0112370 Coffin-Siris syndrome 12 skos:exactMatch OMIM:619325 semapv:UnspecifiedMatching -DOID:0112371 Coffin-Siris syndrome 10 oboInOwl:hasDbXref OMIM:618506 semapv:UnspecifiedMatching -DOID:0112371 Coffin-Siris syndrome 10 skos:exactMatch OMIM:618506 semapv:UnspecifiedMatching -DOID:0112372 Coffin-Siris syndrome 11 oboInOwl:hasDbXref OMIM:618779 semapv:UnspecifiedMatching -DOID:0112372 Coffin-Siris syndrome 11 skos:exactMatch OMIM:618779 semapv:UnspecifiedMatching -DOID:0112373 autosomal dominant auditory neuropathy 3 oboInOwl:hasDbXref OMIM:619832 semapv:UnspecifiedMatching -DOID:0112373 autosomal dominant auditory neuropathy 3 skos:exactMatch OMIM:619832 semapv:UnspecifiedMatching DOID:0112374 muscular dystrophy-dystroglycanopathy oboInOwl:hasDbXref ICD10CM:G71.2 semapv:UnspecifiedMatching DOID:0112374 muscular dystrophy-dystroglycanopathy oboInOwl:hasDbXref ORDO:370953 semapv:UnspecifiedMatching -DOID:0112375 muscular dystrophy-dystroglycanopathy type B oboInOwl:hasDbXref OMIMPS:613155 semapv:UnspecifiedMatching -DOID:0112375 muscular dystrophy-dystroglycanopathy type B skos:exactMatch OMIMPS:613155 semapv:UnspecifiedMatching -DOID:0112376 muscular dystrophy-dystroglycanopathy type B15 oboInOwl:hasDbXref OMIM:618992 semapv:UnspecifiedMatching -DOID:0112376 muscular dystrophy-dystroglycanopathy type B15 skos:exactMatch OMIM:618992 semapv:UnspecifiedMatching -DOID:0112377 muscular dystrophy-dystroglycanopathy type B14 oboInOwl:hasDbXref OMIM:615351 semapv:UnspecifiedMatching -DOID:0112377 muscular dystrophy-dystroglycanopathy type B14 skos:exactMatch OMIM:615351 semapv:UnspecifiedMatching -DOID:0112378 muscular dystrophy-dystroglycanopathy type B3 oboInOwl:hasDbXref OMIM:613151 semapv:UnspecifiedMatching -DOID:0112378 muscular dystrophy-dystroglycanopathy type B3 skos:exactMatch OMIM:613151 semapv:UnspecifiedMatching -DOID:0112379 muscular dystrophy-dystroglycanopathy type B4 oboInOwl:hasDbXref OMIM:613152 semapv:UnspecifiedMatching -DOID:0112379 muscular dystrophy-dystroglycanopathy type B4 skos:exactMatch OMIM:613152 semapv:UnspecifiedMatching -DOID:0112380 muscular dystrophy-dystroglycanopathy type B2 oboInOwl:hasDbXref OMIM:613156 semapv:UnspecifiedMatching -DOID:0112380 muscular dystrophy-dystroglycanopathy type B2 skos:exactMatch OMIM:613156 semapv:UnspecifiedMatching -DOID:0112381 muscular dystrophy-dystroglycanopathy type C12 oboInOwl:hasDbXref OMIM:616094 semapv:UnspecifiedMatching DOID:0112381 muscular dystrophy-dystroglycanopathy type C12 oboInOwl:hasDbXref ORDO:445110 semapv:UnspecifiedMatching -DOID:0112381 muscular dystrophy-dystroglycanopathy type C12 skos:exactMatch OMIM:616094 semapv:UnspecifiedMatching -DOID:0112382 muscular dystrophy-dystroglycanopathy type C8 oboInOwl:hasDbXref OMIM:618135 semapv:UnspecifiedMatching -DOID:0112382 muscular dystrophy-dystroglycanopathy type C8 skos:exactMatch OMIM:618135 semapv:UnspecifiedMatching -DOID:0112383 KINSSHIP syndrome oboInOwl:hasDbXref OMIM:619297 semapv:UnspecifiedMatching -DOID:0112383 KINSSHIP syndrome skos:exactMatch OMIM:619297 semapv:UnspecifiedMatching DOID:100 intestinal infectious disease oboInOwl:hasDbXref ICD10CM:A00-A09 semapv:UnspecifiedMatching DOID:100 intestinal infectious disease oboInOwl:hasDbXref ICD9CM:001-009.99 semapv:UnspecifiedMatching DOID:100 intestinal infectious disease oboInOwl:hasDbXref UMLS:C0178238 semapv:UnspecifiedMatching @@ -17666,19 +7930,15 @@ DOID:10016 multiple endocrine neoplasia type 2B oboInOwl:hasDbXref ICD10CM:E31.2 DOID:10016 multiple endocrine neoplasia type 2B oboInOwl:hasDbXref ICD9CM:258.03 semapv:UnspecifiedMatching DOID:10016 multiple endocrine neoplasia type 2B oboInOwl:hasDbXref MESH:D018814 semapv:UnspecifiedMatching DOID:10016 multiple endocrine neoplasia type 2B oboInOwl:hasDbXref NCI:C3227 semapv:UnspecifiedMatching -DOID:10016 multiple endocrine neoplasia type 2B oboInOwl:hasDbXref OMIM:162300 semapv:UnspecifiedMatching DOID:10016 multiple endocrine neoplasia type 2B oboInOwl:hasDbXref ORDO:247709 semapv:UnspecifiedMatching DOID:10016 multiple endocrine neoplasia type 2B oboInOwl:hasDbXref UMLS:C0025269 semapv:UnspecifiedMatching -DOID:10016 multiple endocrine neoplasia type 2B skos:exactMatch OMIM:162300 semapv:UnspecifiedMatching DOID:10017 multiple endocrine neoplasia type 1 oboInOwl:hasDbXref GARD:3829 semapv:UnspecifiedMatching DOID:10017 multiple endocrine neoplasia type 1 oboInOwl:hasDbXref ICD10CM:E31.21 semapv:UnspecifiedMatching DOID:10017 multiple endocrine neoplasia type 1 oboInOwl:hasDbXref ICD9CM:258.01 semapv:UnspecifiedMatching DOID:10017 multiple endocrine neoplasia type 1 oboInOwl:hasDbXref MESH:D018761 semapv:UnspecifiedMatching DOID:10017 multiple endocrine neoplasia type 1 oboInOwl:hasDbXref NCI:C3225 semapv:UnspecifiedMatching -DOID:10017 multiple endocrine neoplasia type 1 oboInOwl:hasDbXref OMIM:131100 semapv:UnspecifiedMatching DOID:10017 multiple endocrine neoplasia type 1 oboInOwl:hasDbXref ORDO:652 semapv:UnspecifiedMatching DOID:10017 multiple endocrine neoplasia type 1 oboInOwl:hasDbXref UMLS:C0025267 semapv:UnspecifiedMatching -DOID:10017 multiple endocrine neoplasia type 1 skos:exactMatch OMIM:131100 semapv:UnspecifiedMatching DOID:1002 endometritis oboInOwl:hasDbXref MESH:D004716 semapv:UnspecifiedMatching DOID:1002 endometritis oboInOwl:hasDbXref NCI:C26764 semapv:UnspecifiedMatching DOID:1002 endometritis oboInOwl:hasDbXref UMLS:C0014179 semapv:UnspecifiedMatching @@ -17699,8 +7959,6 @@ DOID:10024 migraine with aura oboInOwl:hasDbXref ICD10CM:G43.1 semapv:Unspecifie DOID:10024 migraine with aura oboInOwl:hasDbXref ICD9CM:346.0 semapv:UnspecifiedMatching DOID:10024 migraine with aura oboInOwl:hasDbXref MESH:D020325 semapv:UnspecifiedMatching DOID:10024 migraine with aura oboInOwl:hasDbXref NCI:C117005 semapv:UnspecifiedMatching -DOID:10024 migraine with aura oboInOwl:hasDbXref OMIM:609179 semapv:UnspecifiedMatching -DOID:10024 migraine with aura oboInOwl:hasDbXref OMIM:609670 semapv:UnspecifiedMatching DOID:10024 migraine with aura oboInOwl:hasDbXref UMLS:C0154723 semapv:UnspecifiedMatching DOID:10027 tabes dorsalis oboInOwl:hasDbXref GARD:8730 semapv:UnspecifiedMatching DOID:10027 tabes dorsalis oboInOwl:hasDbXref ICD10CM:A52.11 semapv:UnspecifiedMatching @@ -17814,9 +8072,7 @@ DOID:10120 obsolete eyelid degenerative disease oboInOwl:hasDbXref UMLS:C0155209 DOID:10122 hyperpigmentation of eyelid oboInOwl:hasDbXref ICD10CM:H02.71 semapv:UnspecifiedMatching DOID:10122 hyperpigmentation of eyelid oboInOwl:hasDbXref ICD9CM:374.52 semapv:UnspecifiedMatching DOID:10122 hyperpigmentation of eyelid oboInOwl:hasDbXref MESH:C562400 semapv:UnspecifiedMatching -DOID:10122 hyperpigmentation of eyelid oboInOwl:hasDbXref OMIM:145100 semapv:UnspecifiedMatching DOID:10122 hyperpigmentation of eyelid oboInOwl:hasDbXref UMLS:C0155211 semapv:UnspecifiedMatching -DOID:10122 hyperpigmentation of eyelid skos:exactMatch OMIM:145100 semapv:UnspecifiedMatching DOID:10123 pigmentation disease oboInOwl:hasDbXref ICD9CM:709.09 semapv:UnspecifiedMatching DOID:10123 pigmentation disease oboInOwl:hasDbXref UMLS:C0375489 semapv:UnspecifiedMatching DOID:10124 corneal disease oboInOwl:hasDbXref ICD10CM:H18.9 semapv:UnspecifiedMatching @@ -17831,14 +8087,6 @@ DOID:10126 keratoconus oboInOwl:hasDbXref ICD10CM:H18.6 semapv:UnspecifiedMatchi DOID:10126 keratoconus oboInOwl:hasDbXref ICD9CM:371.6 semapv:UnspecifiedMatching DOID:10126 keratoconus oboInOwl:hasDbXref MESH:D007640 semapv:UnspecifiedMatching DOID:10126 keratoconus oboInOwl:hasDbXref NCI:C26806 semapv:UnspecifiedMatching -DOID:10126 keratoconus oboInOwl:hasDbXref OMIM:148300 semapv:UnspecifiedMatching -DOID:10126 keratoconus oboInOwl:hasDbXref OMIM:608586 semapv:UnspecifiedMatching -DOID:10126 keratoconus oboInOwl:hasDbXref OMIM:608932 semapv:UnspecifiedMatching -DOID:10126 keratoconus oboInOwl:hasDbXref OMIM:609271 semapv:UnspecifiedMatching -DOID:10126 keratoconus oboInOwl:hasDbXref OMIM:614622 semapv:UnspecifiedMatching -DOID:10126 keratoconus oboInOwl:hasDbXref OMIM:614623 semapv:UnspecifiedMatching -DOID:10126 keratoconus oboInOwl:hasDbXref OMIM:614628 semapv:UnspecifiedMatching -DOID:10126 keratoconus oboInOwl:hasDbXref OMIM:614629 semapv:UnspecifiedMatching DOID:10126 keratoconus oboInOwl:hasDbXref ORDO:156071 semapv:UnspecifiedMatching DOID:10126 keratoconus oboInOwl:hasDbXref UMLS:C0022578 semapv:UnspecifiedMatching DOID:10127 cerebral artery occlusion oboInOwl:hasDbXref ICD9CM:434 semapv:UnspecifiedMatching @@ -18032,9 +8280,6 @@ DOID:1024 leprosy oboInOwl:hasDbXref ICD10CM:A30 semapv:UnspecifiedMatching DOID:1024 leprosy oboInOwl:hasDbXref ICD9CM:030 semapv:UnspecifiedMatching DOID:1024 leprosy oboInOwl:hasDbXref MESH:D007918 semapv:UnspecifiedMatching DOID:1024 leprosy oboInOwl:hasDbXref NCI:C84824 semapv:UnspecifiedMatching -DOID:1024 leprosy oboInOwl:hasDbXref OMIM:607572 semapv:UnspecifiedMatching -DOID:1024 leprosy oboInOwl:hasDbXref OMIM:609888 semapv:UnspecifiedMatching -DOID:1024 leprosy oboInOwl:hasDbXref OMIM:613407 semapv:UnspecifiedMatching DOID:1024 leprosy oboInOwl:hasDbXref ORDO:548 semapv:UnspecifiedMatching DOID:1024 leprosy oboInOwl:hasDbXref UMLS:C0023343 semapv:UnspecifiedMatching DOID:10241 thalassemia oboInOwl:hasDbXref GARD:7756 semapv:UnspecifiedMatching @@ -18085,23 +8330,6 @@ DOID:10283 prostate cancer oboInOwl:hasDbXref KEGG:05215 semapv:UnspecifiedMatch DOID:10283 prostate cancer oboInOwl:hasDbXref MESH:D011471 semapv:UnspecifiedMatching DOID:10283 prostate cancer oboInOwl:hasDbXref NCI:C3343 semapv:UnspecifiedMatching DOID:10283 prostate cancer oboInOwl:hasDbXref NCI:C7378 semapv:UnspecifiedMatching -DOID:10283 prostate cancer oboInOwl:hasDbXref OMIM:176807 semapv:UnspecifiedMatching -DOID:10283 prostate cancer oboInOwl:hasDbXref OMIM:300147 semapv:UnspecifiedMatching -DOID:10283 prostate cancer oboInOwl:hasDbXref OMIM:300704 semapv:UnspecifiedMatching -DOID:10283 prostate cancer oboInOwl:hasDbXref OMIM:601518 semapv:UnspecifiedMatching -DOID:10283 prostate cancer oboInOwl:hasDbXref OMIM:602759 semapv:UnspecifiedMatching -DOID:10283 prostate cancer oboInOwl:hasDbXref OMIM:608656 semapv:UnspecifiedMatching -DOID:10283 prostate cancer oboInOwl:hasDbXref OMIM:608658 semapv:UnspecifiedMatching -DOID:10283 prostate cancer oboInOwl:hasDbXref OMIM:609299 semapv:UnspecifiedMatching -DOID:10283 prostate cancer oboInOwl:hasDbXref OMIM:609558 semapv:UnspecifiedMatching -DOID:10283 prostate cancer oboInOwl:hasDbXref OMIM:610321 semapv:UnspecifiedMatching -DOID:10283 prostate cancer oboInOwl:hasDbXref OMIM:610997 semapv:UnspecifiedMatching -DOID:10283 prostate cancer oboInOwl:hasDbXref OMIM:611100 semapv:UnspecifiedMatching -DOID:10283 prostate cancer oboInOwl:hasDbXref OMIM:611868 semapv:UnspecifiedMatching -DOID:10283 prostate cancer oboInOwl:hasDbXref OMIM:611928 semapv:UnspecifiedMatching -DOID:10283 prostate cancer oboInOwl:hasDbXref OMIM:611955 semapv:UnspecifiedMatching -DOID:10283 prostate cancer oboInOwl:hasDbXref OMIM:611958 semapv:UnspecifiedMatching -DOID:10283 prostate cancer oboInOwl:hasDbXref OMIM:611959 semapv:UnspecifiedMatching DOID:10283 prostate cancer oboInOwl:hasDbXref ORDO:1331 semapv:UnspecifiedMatching DOID:10283 prostate cancer oboInOwl:hasDbXref UMLS:C0033578 semapv:UnspecifiedMatching DOID:10283 prostate cancer oboInOwl:hasDbXref UMLS:C0376358 semapv:UnspecifiedMatching @@ -18127,10 +8355,8 @@ DOID:10293 monocular esotropia oboInOwl:hasDbXref MESH:D004948 semapv:Unspecifie DOID:10293 monocular esotropia oboInOwl:hasDbXref UMLS:C0152204 semapv:UnspecifiedMatching DOID:10300 Raynaud disease oboInOwl:hasDbXref ICD10CM:I73.0 semapv:UnspecifiedMatching DOID:10300 Raynaud disease oboInOwl:hasDbXref MESH:D011928 semapv:UnspecifiedMatching -DOID:10300 Raynaud disease oboInOwl:hasDbXref OMIM:179600 semapv:UnspecifiedMatching DOID:10300 Raynaud disease oboInOwl:hasDbXref UMLS:C0034734 semapv:UnspecifiedMatching DOID:10300 Raynaud disease skos:exactMatch MESH:D011928 semapv:UnspecifiedMatching -DOID:10300 Raynaud disease skos:exactMatch OMIM:179600 semapv:UnspecifiedMatching DOID:10301 parotitis oboInOwl:hasDbXref ICD10CM:K11.2 semapv:UnspecifiedMatching DOID:10301 parotitis oboInOwl:hasDbXref MESH:D010309 semapv:UnspecifiedMatching DOID:10301 parotitis oboInOwl:hasDbXref NCI:C114281 semapv:UnspecifiedMatching @@ -18287,9 +8513,7 @@ DOID:10378 deprivation amblyopia oboInOwl:hasDbXref UMLS:C0152189 semapv:Unspeci DOID:10383 amyotrophic neuralgia oboInOwl:hasDbXref ICD10CM:G54.5 semapv:UnspecifiedMatching DOID:10383 amyotrophic neuralgia oboInOwl:hasDbXref ICD9CM:353.5 semapv:UnspecifiedMatching DOID:10383 amyotrophic neuralgia oboInOwl:hasDbXref MESH:D020968 semapv:UnspecifiedMatching -DOID:10383 amyotrophic neuralgia oboInOwl:hasDbXref OMIM:162100 semapv:UnspecifiedMatching DOID:10383 amyotrophic neuralgia oboInOwl:hasDbXref UMLS:C1510479 semapv:UnspecifiedMatching -DOID:10383 amyotrophic neuralgia skos:exactMatch OMIM:162100 semapv:UnspecifiedMatching DOID:1039 prolymphocytic leukemia oboInOwl:hasDbXref ICDO:9832/3 semapv:UnspecifiedMatching DOID:1039 prolymphocytic leukemia oboInOwl:hasDbXref MESH:D015463 semapv:UnspecifiedMatching DOID:1039 prolymphocytic leukemia oboInOwl:hasDbXref NCI:C3181 semapv:UnspecifiedMatching @@ -18318,12 +8542,6 @@ DOID:1040 chronic lymphocytic leukemia oboInOwl:hasDbXref ICD10CM:C91.10 semapv: DOID:1040 chronic lymphocytic leukemia oboInOwl:hasDbXref ICD9CM:204.1 semapv:UnspecifiedMatching DOID:1040 chronic lymphocytic leukemia oboInOwl:hasDbXref MESH:D015451 semapv:UnspecifiedMatching DOID:1040 chronic lymphocytic leukemia oboInOwl:hasDbXref NCI:C3163 semapv:UnspecifiedMatching -DOID:1040 chronic lymphocytic leukemia oboInOwl:hasDbXref OMIM:109543 semapv:UnspecifiedMatching -DOID:1040 chronic lymphocytic leukemia oboInOwl:hasDbXref OMIM:151400 semapv:UnspecifiedMatching -DOID:1040 chronic lymphocytic leukemia oboInOwl:hasDbXref OMIM:609630 semapv:UnspecifiedMatching -DOID:1040 chronic lymphocytic leukemia oboInOwl:hasDbXref OMIM:612557 semapv:UnspecifiedMatching -DOID:1040 chronic lymphocytic leukemia oboInOwl:hasDbXref OMIM:612558 semapv:UnspecifiedMatching -DOID:1040 chronic lymphocytic leukemia oboInOwl:hasDbXref OMIM:612559 semapv:UnspecifiedMatching DOID:1040 chronic lymphocytic leukemia oboInOwl:hasDbXref ORDO:67038 semapv:UnspecifiedMatching DOID:1040 chronic lymphocytic leukemia oboInOwl:hasDbXref UMLS:C0023434 semapv:UnspecifiedMatching DOID:10400 gonococcal seminal vesiculitis oboInOwl:hasDbXref UMLS:C0578661 semapv:UnspecifiedMatching @@ -18335,10 +8553,8 @@ DOID:10426 Klippel-Feil syndrome oboInOwl:hasDbXref ICD10CM:Q76.1 semapv:Unspeci DOID:10426 Klippel-Feil syndrome oboInOwl:hasDbXref ICD9CM:756.16 semapv:UnspecifiedMatching DOID:10426 Klippel-Feil syndrome oboInOwl:hasDbXref MESH:D007714 semapv:UnspecifiedMatching DOID:10426 Klippel-Feil syndrome oboInOwl:hasDbXref NCI:C98967 semapv:UnspecifiedMatching -DOID:10426 Klippel-Feil syndrome oboInOwl:hasDbXref OMIMPS:118100 semapv:UnspecifiedMatching DOID:10426 Klippel-Feil syndrome oboInOwl:hasDbXref ORDO:2345 semapv:UnspecifiedMatching DOID:10426 Klippel-Feil syndrome oboInOwl:hasDbXref UMLS:C0022738 semapv:UnspecifiedMatching -DOID:10426 Klippel-Feil syndrome skos:exactMatch OMIMPS:118100 semapv:UnspecifiedMatching DOID:10428 stable condition keratoconus oboInOwl:hasDbXref ICD10CM:H18.61 semapv:UnspecifiedMatching DOID:10428 stable condition keratoconus oboInOwl:hasDbXref ICD9CM:371.61 semapv:UnspecifiedMatching DOID:10428 stable condition keratoconus oboInOwl:hasDbXref UMLS:C0155131 semapv:UnspecifiedMatching @@ -18418,19 +8634,12 @@ DOID:10487 Hirschsprung's disease oboInOwl:hasDbXref GARD:6660 semapv:Unspecifie DOID:10487 Hirschsprung's disease oboInOwl:hasDbXref ICD10CM:Q43.1 semapv:UnspecifiedMatching DOID:10487 Hirschsprung's disease oboInOwl:hasDbXref MESH:D006627 semapv:UnspecifiedMatching DOID:10487 Hirschsprung's disease oboInOwl:hasDbXref NCI:C34700 semapv:UnspecifiedMatching -DOID:10487 Hirschsprung's disease oboInOwl:hasDbXref OMIM:600156 semapv:UnspecifiedMatching -DOID:10487 Hirschsprung's disease oboInOwl:hasDbXref OMIM:606874 semapv:UnspecifiedMatching -DOID:10487 Hirschsprung's disease oboInOwl:hasDbXref OMIM:606875 semapv:UnspecifiedMatching -DOID:10487 Hirschsprung's disease oboInOwl:hasDbXref OMIM:608462 semapv:UnspecifiedMatching -DOID:10487 Hirschsprung's disease oboInOwl:hasDbXref OMIM:611644 semapv:UnspecifiedMatching DOID:10487 Hirschsprung's disease oboInOwl:hasDbXref ORDO:388 semapv:UnspecifiedMatching DOID:10487 Hirschsprung's disease oboInOwl:hasDbXref UMLS:C0019569 semapv:UnspecifiedMatching DOID:10488 imperforate anus oboInOwl:hasDbXref GARD:6769 semapv:UnspecifiedMatching DOID:10488 imperforate anus oboInOwl:hasDbXref ICD10CM:Q42.3 semapv:UnspecifiedMatching DOID:10488 imperforate anus oboInOwl:hasDbXref MESH:D001006 semapv:UnspecifiedMatching DOID:10488 imperforate anus oboInOwl:hasDbXref NCI:C84784 semapv:UnspecifiedMatching -DOID:10488 imperforate anus oboInOwl:hasDbXref OMIM:207500 semapv:UnspecifiedMatching -DOID:10488 imperforate anus oboInOwl:hasDbXref OMIM:301800 semapv:UnspecifiedMatching DOID:10488 imperforate anus oboInOwl:hasDbXref UMLS:C0003466 semapv:UnspecifiedMatching DOID:10493 adrenal cortical hypofunction oboInOwl:hasDbXref ICD9CM:255.4 semapv:UnspecifiedMatching DOID:10493 adrenal cortical hypofunction oboInOwl:hasDbXref NCI:C26691 semapv:UnspecifiedMatching @@ -18469,13 +8678,11 @@ DOID:10534 stomach cancer oboInOwl:hasDbXref ICD9CM:151.6 semapv:UnspecifiedMatc DOID:10534 stomach cancer oboInOwl:hasDbXref MESH:D013274 semapv:UnspecifiedMatching DOID:10534 stomach cancer oboInOwl:hasDbXref NCI:C3387 semapv:UnspecifiedMatching DOID:10534 stomach cancer oboInOwl:hasDbXref NCI:C9331 semapv:UnspecifiedMatching -DOID:10534 stomach cancer oboInOwl:hasDbXref OMIM:613659 semapv:UnspecifiedMatching DOID:10534 stomach cancer oboInOwl:hasDbXref UMLS:C0024623 semapv:UnspecifiedMatching DOID:10534 stomach cancer oboInOwl:hasDbXref UMLS:C0038356 semapv:UnspecifiedMatching DOID:10534 stomach cancer oboInOwl:hasDbXref UMLS:C0153421 semapv:UnspecifiedMatching DOID:10534 stomach cancer oboInOwl:hasDbXref UMLS:C0153422 semapv:UnspecifiedMatching DOID:10534 stomach cancer oboInOwl:hasDbXref UMLS:C0153423 semapv:UnspecifiedMatching -DOID:10534 stomach cancer skos:exactMatch OMIM:613659 semapv:UnspecifiedMatching DOID:10536 malignant gastric granular cell tumor oboInOwl:hasDbXref NCI:C5484 semapv:UnspecifiedMatching DOID:10536 malignant gastric granular cell tumor oboInOwl:hasDbXref UMLS:C1334585 semapv:UnspecifiedMatching DOID:10538 gastric fundus cancer oboInOwl:hasDbXref ICD10CM:C16.1 semapv:UnspecifiedMatching @@ -18510,10 +8717,8 @@ DOID:1056 oculocerebrorenal syndrome oboInOwl:hasDbXref ICD10CM:E72.03 semapv:Un DOID:1056 oculocerebrorenal syndrome oboInOwl:hasDbXref MEDDRA:10051707 semapv:UnspecifiedMatching DOID:1056 oculocerebrorenal syndrome oboInOwl:hasDbXref MESH:D009800 semapv:UnspecifiedMatching DOID:1056 oculocerebrorenal syndrome oboInOwl:hasDbXref NCI:C84940 semapv:UnspecifiedMatching -DOID:1056 oculocerebrorenal syndrome oboInOwl:hasDbXref OMIM:309000 semapv:UnspecifiedMatching DOID:1056 oculocerebrorenal syndrome oboInOwl:hasDbXref ORDO:534 semapv:UnspecifiedMatching DOID:1056 oculocerebrorenal syndrome oboInOwl:hasDbXref UMLS:C0028860 semapv:UnspecifiedMatching -DOID:1056 oculocerebrorenal syndrome skos:exactMatch OMIM:309000 semapv:UnspecifiedMatching DOID:10567 late yaws oboInOwl:hasDbXref ICD10CM:A66.1 semapv:UnspecifiedMatching DOID:10567 late yaws oboInOwl:hasDbXref ICD10CM:A66.4 semapv:UnspecifiedMatching DOID:10567 late yaws oboInOwl:hasDbXref ICD9CM:102.1 semapv:UnspecifiedMatching @@ -18547,8 +8752,6 @@ DOID:10581 metachromatic leukodystrophy oboInOwl:hasDbXref GARD:3230 semapv:Unsp DOID:10581 metachromatic leukodystrophy oboInOwl:hasDbXref ICD10CM:E75.25 semapv:UnspecifiedMatching DOID:10581 metachromatic leukodystrophy oboInOwl:hasDbXref MESH:D007966 semapv:UnspecifiedMatching DOID:10581 metachromatic leukodystrophy oboInOwl:hasDbXref NCI:C61251 semapv:UnspecifiedMatching -DOID:10581 metachromatic leukodystrophy oboInOwl:hasDbXref OMIM:249900 semapv:UnspecifiedMatching -DOID:10581 metachromatic leukodystrophy oboInOwl:hasDbXref OMIM:250100 semapv:UnspecifiedMatching DOID:10581 metachromatic leukodystrophy oboInOwl:hasDbXref ORDO:512 semapv:UnspecifiedMatching DOID:10581 metachromatic leukodystrophy oboInOwl:hasDbXref UMLS:C0023522 semapv:UnspecifiedMatching DOID:10582 Refsum disease oboInOwl:hasDbXref GARD:5691 semapv:UnspecifiedMatching @@ -18556,34 +8759,26 @@ DOID:10582 Refsum disease oboInOwl:hasDbXref ICD10CM:G60.1 semapv:UnspecifiedMat DOID:10582 Refsum disease oboInOwl:hasDbXref ICD9CM:356.3 semapv:UnspecifiedMatching DOID:10582 Refsum disease oboInOwl:hasDbXref MESH:D012035 semapv:UnspecifiedMatching DOID:10582 Refsum disease oboInOwl:hasDbXref NCI:C85043 semapv:UnspecifiedMatching -DOID:10582 Refsum disease oboInOwl:hasDbXref OMIM:266500 semapv:UnspecifiedMatching DOID:10582 Refsum disease oboInOwl:hasDbXref ORDO:773 semapv:UnspecifiedMatching DOID:10582 Refsum disease oboInOwl:hasDbXref UMLS:C0034960 semapv:UnspecifiedMatching -DOID:10582 Refsum disease skos:exactMatch OMIM:266500 semapv:UnspecifiedMatching DOID:10584 retinitis pigmentosa oboInOwl:hasDbXref GARD:5694 semapv:UnspecifiedMatching DOID:10584 retinitis pigmentosa oboInOwl:hasDbXref ICD10CM:H35.52 semapv:UnspecifiedMatching DOID:10584 retinitis pigmentosa oboInOwl:hasDbXref MESH:C538365 semapv:UnspecifiedMatching DOID:10584 retinitis pigmentosa oboInOwl:hasDbXref MESH:D012174 semapv:UnspecifiedMatching DOID:10584 retinitis pigmentosa oboInOwl:hasDbXref NCI:C85045 semapv:UnspecifiedMatching -DOID:10584 retinitis pigmentosa oboInOwl:hasDbXref OMIMPS:268000 semapv:UnspecifiedMatching DOID:10584 retinitis pigmentosa oboInOwl:hasDbXref ORDO:791 semapv:UnspecifiedMatching DOID:10584 retinitis pigmentosa oboInOwl:hasDbXref UMLS:C0035334 semapv:UnspecifiedMatching DOID:10584 retinitis pigmentosa oboInOwl:hasDbXref UMLS:C0220701 semapv:UnspecifiedMatching -DOID:10584 retinitis pigmentosa skos:exactMatch OMIMPS:268000 semapv:UnspecifiedMatching DOID:10587 Krabbe disease oboInOwl:hasDbXref GARD:6844 semapv:UnspecifiedMatching DOID:10587 Krabbe disease oboInOwl:hasDbXref ICD10CM:E75.23 semapv:UnspecifiedMatching DOID:10587 Krabbe disease oboInOwl:hasDbXref MESH:D007965 semapv:UnspecifiedMatching DOID:10587 Krabbe disease oboInOwl:hasDbXref NCI:C61254 semapv:UnspecifiedMatching -DOID:10587 Krabbe disease oboInOwl:hasDbXref OMIM:245200 semapv:UnspecifiedMatching DOID:10587 Krabbe disease oboInOwl:hasDbXref UMLS:C0023521 semapv:UnspecifiedMatching -DOID:10587 Krabbe disease skos:exactMatch OMIM:245200 semapv:UnspecifiedMatching DOID:10588 adrenoleukodystrophy oboInOwl:hasDbXref ICD10CM:E71.52 semapv:UnspecifiedMatching DOID:10588 adrenoleukodystrophy oboInOwl:hasDbXref MESH:D000326 semapv:UnspecifiedMatching DOID:10588 adrenoleukodystrophy oboInOwl:hasDbXref NCI:C61252 semapv:UnspecifiedMatching -DOID:10588 adrenoleukodystrophy oboInOwl:hasDbXref OMIM:300100 semapv:UnspecifiedMatching DOID:10588 adrenoleukodystrophy oboInOwl:hasDbXref UMLS:C0162309 semapv:UnspecifiedMatching DOID:10588 adrenoleukodystrophy skos:exactMatch MESH:D000326 semapv:UnspecifiedMatching -DOID:10588 adrenoleukodystrophy skos:exactMatch OMIM:300100 semapv:UnspecifiedMatching DOID:1059 intellectual disability oboInOwl:hasDbXref NCI:C84392 semapv:UnspecifiedMatching DOID:1059 intellectual disability oboInOwl:hasDbXref UMLS:C0025362 semapv:UnspecifiedMatching DOID:10590 mild pre-eclampsia oboInOwl:hasDbXref ICD9CM:642.40 semapv:UnspecifiedMatching @@ -18591,11 +8786,6 @@ DOID:10590 mild pre-eclampsia oboInOwl:hasDbXref UMLS:C0156664 semapv:Unspecifie DOID:10591 pre-eclampsia oboInOwl:hasDbXref ICD10CM:O14 semapv:UnspecifiedMatching DOID:10591 pre-eclampsia oboInOwl:hasDbXref MESH:D011225 semapv:UnspecifiedMatching DOID:10591 pre-eclampsia oboInOwl:hasDbXref NCI:C85021 semapv:UnspecifiedMatching -DOID:10591 pre-eclampsia oboInOwl:hasDbXref OMIM:189800 semapv:UnspecifiedMatching -DOID:10591 pre-eclampsia oboInOwl:hasDbXref OMIM:609402 semapv:UnspecifiedMatching -DOID:10591 pre-eclampsia oboInOwl:hasDbXref OMIM:609403 semapv:UnspecifiedMatching -DOID:10591 pre-eclampsia oboInOwl:hasDbXref OMIM:609404 semapv:UnspecifiedMatching -DOID:10591 pre-eclampsia oboInOwl:hasDbXref OMIM:614592 semapv:UnspecifiedMatching DOID:10591 pre-eclampsia oboInOwl:hasDbXref ORDO:275555 semapv:UnspecifiedMatching DOID:10591 pre-eclampsia oboInOwl:hasDbXref UMLS:C0032914 semapv:UnspecifiedMatching DOID:10593 idiopathic progressive polyneuropathy oboInOwl:hasDbXref ICD9CM:356.4 semapv:UnspecifiedMatching @@ -18605,9 +8795,7 @@ DOID:10595 Charcot-Marie-Tooth disease oboInOwl:hasDbXref ICD10CM:G60.0 semapv:U DOID:10595 Charcot-Marie-Tooth disease oboInOwl:hasDbXref ICD9CM:356.1 semapv:UnspecifiedMatching DOID:10595 Charcot-Marie-Tooth disease oboInOwl:hasDbXref MESH:D002607 semapv:UnspecifiedMatching DOID:10595 Charcot-Marie-Tooth disease oboInOwl:hasDbXref NCI:C75467 semapv:UnspecifiedMatching -DOID:10595 Charcot-Marie-Tooth disease oboInOwl:hasDbXref OMIMPS:118220 semapv:UnspecifiedMatching DOID:10595 Charcot-Marie-Tooth disease oboInOwl:hasDbXref UMLS:C0007959 semapv:UnspecifiedMatching -DOID:10595 Charcot-Marie-Tooth disease skos:exactMatch OMIMPS:118220 semapv:UnspecifiedMatching DOID:106 pleural tuberculosis oboInOwl:hasDbXref ICD10CM:A15.6 semapv:UnspecifiedMatching DOID:106 pleural tuberculosis oboInOwl:hasDbXref ICD9CM:010.1 semapv:UnspecifiedMatching DOID:106 pleural tuberculosis oboInOwl:hasDbXref ICD9CM:012.0 semapv:UnspecifiedMatching @@ -18619,9 +8807,7 @@ DOID:1060 Hartnup disease oboInOwl:hasDbXref GARD:6569 semapv:UnspecifiedMatchin DOID:1060 Hartnup disease oboInOwl:hasDbXref ICD10CM:E72.02 semapv:UnspecifiedMatching DOID:1060 Hartnup disease oboInOwl:hasDbXref MESH:D006250 semapv:UnspecifiedMatching DOID:1060 Hartnup disease oboInOwl:hasDbXref NCI:C84748 semapv:UnspecifiedMatching -DOID:1060 Hartnup disease oboInOwl:hasDbXref OMIM:234500 semapv:UnspecifiedMatching DOID:1060 Hartnup disease oboInOwl:hasDbXref UMLS:C0018609 semapv:UnspecifiedMatching -DOID:1060 Hartnup disease skos:exactMatch OMIM:234500 semapv:UnspecifiedMatching DOID:10600 chronic tic disorder oboInOwl:hasDbXref ICD10CM:F95.1 semapv:UnspecifiedMatching DOID:10600 chronic tic disorder oboInOwl:hasDbXref ICD9CM:307.22 semapv:UnspecifiedMatching DOID:10600 chronic tic disorder oboInOwl:hasDbXref MESH:D013981 semapv:UnspecifiedMatching @@ -18634,10 +8820,8 @@ DOID:10603 glucose intolerance oboInOwl:hasDbXref UMLS:C0271650 semapv:Unspecifi DOID:10604 lactose intolerance oboInOwl:hasDbXref ICD10CM:E73 semapv:UnspecifiedMatching DOID:10604 lactose intolerance oboInOwl:hasDbXref MESH:D007787 semapv:UnspecifiedMatching DOID:10604 lactose intolerance oboInOwl:hasDbXref NCI:C3154 semapv:UnspecifiedMatching -DOID:10604 lactose intolerance oboInOwl:hasDbXref OMIM:223100 semapv:UnspecifiedMatching DOID:10604 lactose intolerance oboInOwl:hasDbXref UMLS:C0022951 semapv:UnspecifiedMatching DOID:10604 lactose intolerance skos:exactMatch MESH:D007787 semapv:UnspecifiedMatching -DOID:10604 lactose intolerance skos:exactMatch OMIM:223100 semapv:UnspecifiedMatching DOID:10605 short bowel syndrome oboInOwl:hasDbXref MESH:D012778 semapv:UnspecifiedMatching DOID:10605 short bowel syndrome oboInOwl:hasDbXref NCI:C99059 semapv:UnspecifiedMatching DOID:10605 short bowel syndrome oboInOwl:hasDbXref UMLS:C0036992 semapv:UnspecifiedMatching @@ -18658,15 +8842,6 @@ DOID:10608 celiac disease oboInOwl:hasDbXref ICD10CM:K90.0 semapv:UnspecifiedMat DOID:10608 celiac disease oboInOwl:hasDbXref ICD9CM:579.0 semapv:UnspecifiedMatching DOID:10608 celiac disease oboInOwl:hasDbXref MESH:D002446 semapv:UnspecifiedMatching DOID:10608 celiac disease oboInOwl:hasDbXref NCI:C26714 semapv:UnspecifiedMatching -DOID:10608 celiac disease oboInOwl:hasDbXref OMIM:607202 semapv:UnspecifiedMatching -DOID:10608 celiac disease oboInOwl:hasDbXref OMIM:609754 semapv:UnspecifiedMatching -DOID:10608 celiac disease oboInOwl:hasDbXref OMIM:611598 semapv:UnspecifiedMatching -DOID:10608 celiac disease oboInOwl:hasDbXref OMIM:612005 semapv:UnspecifiedMatching -DOID:10608 celiac disease oboInOwl:hasDbXref OMIM:612006 semapv:UnspecifiedMatching -DOID:10608 celiac disease oboInOwl:hasDbXref OMIM:612007 semapv:UnspecifiedMatching -DOID:10608 celiac disease oboInOwl:hasDbXref OMIM:612008 semapv:UnspecifiedMatching -DOID:10608 celiac disease oboInOwl:hasDbXref OMIM:612009 semapv:UnspecifiedMatching -DOID:10608 celiac disease oboInOwl:hasDbXref OMIM:612011 semapv:UnspecifiedMatching DOID:10608 celiac disease oboInOwl:hasDbXref ORDO:555 semapv:UnspecifiedMatching DOID:10608 celiac disease oboInOwl:hasDbXref UMLS:C0007570 semapv:UnspecifiedMatching DOID:10609 rickets oboInOwl:hasDbXref GARD:5700 semapv:UnspecifiedMatching @@ -18679,9 +8854,7 @@ DOID:10610 pancreatic steatorrhea oboInOwl:hasDbXref ICD10CM:K90.3 semapv:Unspec DOID:10610 pancreatic steatorrhea oboInOwl:hasDbXref ICD9CM:579.4 semapv:UnspecifiedMatching DOID:10610 pancreatic steatorrhea oboInOwl:hasDbXref UMLS:C0152166 semapv:UnspecifiedMatching DOID:10611 protein-losing enteropathy oboInOwl:hasDbXref MESH:D011504 semapv:UnspecifiedMatching -DOID:10611 protein-losing enteropathy oboInOwl:hasDbXref OMIM:226300 semapv:UnspecifiedMatching DOID:10611 protein-losing enteropathy oboInOwl:hasDbXref UMLS:C0033680 semapv:UnspecifiedMatching -DOID:10611 protein-losing enteropathy skos:exactMatch OMIM:226300 semapv:UnspecifiedMatching DOID:10612 allergic urticaria oboInOwl:hasDbXref ICD10CM:L50.0 semapv:UnspecifiedMatching DOID:10612 allergic urticaria oboInOwl:hasDbXref ICD9CM:708.0 semapv:UnspecifiedMatching DOID:10612 allergic urticaria oboInOwl:hasDbXref UMLS:C0149526 semapv:UnspecifiedMatching @@ -18696,12 +8869,10 @@ DOID:1062 Fanconi syndrome oboInOwl:hasDbXref GARD:9118 semapv:UnspecifiedMatchi DOID:1062 Fanconi syndrome oboInOwl:hasDbXref MESH:D005198 semapv:UnspecifiedMatching DOID:1062 Fanconi syndrome oboInOwl:hasDbXref NCI:C3034 semapv:UnspecifiedMatching DOID:1062 Fanconi syndrome oboInOwl:hasDbXref NCI:C4377 semapv:UnspecifiedMatching -DOID:1062 Fanconi syndrome oboInOwl:hasDbXref OMIMPS:134600 semapv:UnspecifiedMatching DOID:1062 Fanconi syndrome oboInOwl:hasDbXref ORDO:3337 semapv:UnspecifiedMatching DOID:1062 Fanconi syndrome oboInOwl:hasDbXref UMLS:C0015624 semapv:UnspecifiedMatching DOID:1062 Fanconi syndrome oboInOwl:hasDbXref UMLS:C0341703 semapv:UnspecifiedMatching DOID:1062 Fanconi syndrome skos:exactMatch MESH:D005198 semapv:UnspecifiedMatching -DOID:1062 Fanconi syndrome skos:exactMatch OMIMPS:134600 semapv:UnspecifiedMatching DOID:10627 primary optic atrophy oboInOwl:hasDbXref ICD10CM:H47.21 semapv:UnspecifiedMatching DOID:10627 primary optic atrophy oboInOwl:hasDbXref ICD9CM:377.11 semapv:UnspecifiedMatching DOID:10627 primary optic atrophy oboInOwl:hasDbXref UMLS:C0155291 semapv:UnspecifiedMatching @@ -18725,9 +8896,6 @@ DOID:10632 Wolfram syndrome oboInOwl:hasDbXref UMLS:C0043207 semapv:UnspecifiedM DOID:1064 cystinosis oboInOwl:hasDbXref GARD:6236 semapv:UnspecifiedMatching DOID:1064 cystinosis oboInOwl:hasDbXref MESH:D003554 semapv:UnspecifiedMatching DOID:1064 cystinosis oboInOwl:hasDbXref NCI:C129932 semapv:UnspecifiedMatching -DOID:1064 cystinosis oboInOwl:hasDbXref OMIM:219750 semapv:UnspecifiedMatching -DOID:1064 cystinosis oboInOwl:hasDbXref OMIM:219800 semapv:UnspecifiedMatching -DOID:1064 cystinosis oboInOwl:hasDbXref OMIM:219900 semapv:UnspecifiedMatching DOID:1064 cystinosis oboInOwl:hasDbXref ORDO:213 semapv:UnspecifiedMatching DOID:1064 cystinosis oboInOwl:hasDbXref UMLS:C2931187 semapv:UnspecifiedMatching DOID:10646 schizotypal personality disorder oboInOwl:hasDbXref ICD10CM:F21 semapv:UnspecifiedMatching @@ -18766,23 +8934,8 @@ DOID:1067 open-angle glaucoma oboInOwl:hasDbXref ICD10CM:H40.1 semapv:Unspecifie DOID:1067 open-angle glaucoma oboInOwl:hasDbXref ICD9CM:365.1 semapv:UnspecifiedMatching DOID:1067 open-angle glaucoma oboInOwl:hasDbXref MESH:D005902 semapv:UnspecifiedMatching DOID:1067 open-angle glaucoma oboInOwl:hasDbXref NCI:C34641 semapv:UnspecifiedMatching -DOID:1067 open-angle glaucoma oboInOwl:hasDbXref OMIM:137750 semapv:UnspecifiedMatching -DOID:1067 open-angle glaucoma oboInOwl:hasDbXref OMIM:177700 semapv:UnspecifiedMatching -DOID:1067 open-angle glaucoma oboInOwl:hasDbXref OMIM:602429 semapv:UnspecifiedMatching -DOID:1067 open-angle glaucoma oboInOwl:hasDbXref OMIM:603383 semapv:UnspecifiedMatching -DOID:1067 open-angle glaucoma oboInOwl:hasDbXref OMIM:606689 semapv:UnspecifiedMatching -DOID:1067 open-angle glaucoma oboInOwl:hasDbXref OMIM:608695 semapv:UnspecifiedMatching -DOID:1067 open-angle glaucoma oboInOwl:hasDbXref OMIM:608696 semapv:UnspecifiedMatching -DOID:1067 open-angle glaucoma oboInOwl:hasDbXref OMIM:609745 semapv:UnspecifiedMatching -DOID:1067 open-angle glaucoma oboInOwl:hasDbXref OMIM:609887 semapv:UnspecifiedMatching -DOID:1067 open-angle glaucoma oboInOwl:hasDbXref OMIM:610535 semapv:UnspecifiedMatching -DOID:1067 open-angle glaucoma oboInOwl:hasDbXref OMIM:611274 semapv:UnspecifiedMatching -DOID:1067 open-angle glaucoma oboInOwl:hasDbXref OMIM:611276 semapv:UnspecifiedMatching -DOID:1067 open-angle glaucoma oboInOwl:hasDbXref OMIM:613100 semapv:UnspecifiedMatching DOID:1067 open-angle glaucoma oboInOwl:hasDbXref UMLS:C0017612 semapv:UnspecifiedMatching -DOID:1068 juvenile glaucoma oboInOwl:hasDbXref OMIM:137750 semapv:UnspecifiedMatching DOID:1068 juvenile glaucoma oboInOwl:hasDbXref ORDO:98977 semapv:UnspecifiedMatching -DOID:1068 juvenile glaucoma skos:exactMatch OMIM:137750 semapv:UnspecifiedMatching DOID:10686 lactocele oboInOwl:hasDbXref ICD10CM:N64.89 semapv:UnspecifiedMatching DOID:10686 lactocele oboInOwl:hasDbXref ICD9CM:611.5 semapv:UnspecifiedMatching DOID:10686 lactocele oboInOwl:hasDbXref MESH:C535998 semapv:UnspecifiedMatching @@ -18811,9 +8964,7 @@ DOID:1070 primary open angle glaucoma oboInOwl:hasDbXref ICD10CM:H40.11 semapv:U DOID:1070 primary open angle glaucoma oboInOwl:hasDbXref ICD9CM:365.11 semapv:UnspecifiedMatching DOID:1070 primary open angle glaucoma oboInOwl:hasDbXref MESH:D005902 semapv:UnspecifiedMatching DOID:1070 primary open angle glaucoma oboInOwl:hasDbXref NCI:C35394 semapv:UnspecifiedMatching -DOID:1070 primary open angle glaucoma oboInOwl:hasDbXref OMIM:137760 semapv:UnspecifiedMatching DOID:1070 primary open angle glaucoma oboInOwl:hasDbXref UMLS:C0339573 semapv:UnspecifiedMatching -DOID:1070 primary open angle glaucoma skos:exactMatch OMIM:137760 semapv:UnspecifiedMatching DOID:10718 giardiasis oboInOwl:hasDbXref ICD10CM:A07.1 semapv:UnspecifiedMatching DOID:10718 giardiasis oboInOwl:hasDbXref ICD9CM:007.1 semapv:UnspecifiedMatching DOID:10718 giardiasis oboInOwl:hasDbXref MEDDRA:0017536 semapv:UnspecifiedMatching @@ -18871,9 +9022,7 @@ DOID:10772 thrombotic thrombocytopenic purpura oboInOwl:hasDbXref GARD:9430 sema DOID:10772 thrombotic thrombocytopenic purpura oboInOwl:hasDbXref ICD10CM:M31.19 semapv:UnspecifiedMatching DOID:10772 thrombotic thrombocytopenic purpura oboInOwl:hasDbXref MESH:D011697 semapv:UnspecifiedMatching DOID:10772 thrombotic thrombocytopenic purpura oboInOwl:hasDbXref NCI:C78797 semapv:UnspecifiedMatching -DOID:10772 thrombotic thrombocytopenic purpura oboInOwl:hasDbXref OMIM:274150 semapv:UnspecifiedMatching DOID:10772 thrombotic thrombocytopenic purpura oboInOwl:hasDbXref UMLS:C0034155 semapv:UnspecifiedMatching -DOID:10772 thrombotic thrombocytopenic purpura skos:exactMatch OMIM:274150 semapv:UnspecifiedMatching DOID:10773 bubonic plague oboInOwl:hasDbXref GARD:183 semapv:UnspecifiedMatching DOID:10773 bubonic plague oboInOwl:hasDbXref ICD10CM:A20.0 semapv:UnspecifiedMatching DOID:10773 bubonic plague oboInOwl:hasDbXref ICD9CM:020.0 semapv:UnspecifiedMatching @@ -18888,9 +9037,7 @@ DOID:10779 septic myocarditis oboInOwl:hasDbXref UMLS:C0155690 semapv:Unspecifie DOID:10780 primary polycythemia oboInOwl:hasDbXref ICD10CM:D75.0 semapv:UnspecifiedMatching DOID:10780 primary polycythemia oboInOwl:hasDbXref ICD9CM:289.6 semapv:UnspecifiedMatching DOID:10780 primary polycythemia oboInOwl:hasDbXref NCI:C26955 semapv:UnspecifiedMatching -DOID:10780 primary polycythemia oboInOwl:hasDbXref OMIMPS:133100 semapv:UnspecifiedMatching DOID:10780 primary polycythemia oboInOwl:hasDbXref UMLS:C0152264 semapv:UnspecifiedMatching -DOID:10780 primary polycythemia skos:exactMatch OMIMPS:133100 semapv:UnspecifiedMatching DOID:10782 mesenteric lymphadenitis oboInOwl:hasDbXref ICD10CM:I88.0 semapv:UnspecifiedMatching DOID:10782 mesenteric lymphadenitis oboInOwl:hasDbXref ICD9CM:289.2 semapv:UnspecifiedMatching DOID:10782 mesenteric lymphadenitis oboInOwl:hasDbXref MESH:D008640 semapv:UnspecifiedMatching @@ -18977,15 +9124,6 @@ DOID:10825 essential hypertension oboInOwl:hasDbXref ICD10CM:I10 semapv:Unspecif DOID:10825 essential hypertension oboInOwl:hasDbXref ICD9CM:401 semapv:UnspecifiedMatching DOID:10825 essential hypertension oboInOwl:hasDbXref MESH:D000075222 semapv:UnspecifiedMatching DOID:10825 essential hypertension oboInOwl:hasDbXref NCI:C3478 semapv:UnspecifiedMatching -DOID:10825 essential hypertension oboInOwl:hasDbXref OMIM:145500 semapv:UnspecifiedMatching -DOID:10825 essential hypertension oboInOwl:hasDbXref OMIM:603918 semapv:UnspecifiedMatching -DOID:10825 essential hypertension oboInOwl:hasDbXref OMIM:604329 semapv:UnspecifiedMatching -DOID:10825 essential hypertension oboInOwl:hasDbXref OMIM:607329 semapv:UnspecifiedMatching -DOID:10825 essential hypertension oboInOwl:hasDbXref OMIM:608742 semapv:UnspecifiedMatching -DOID:10825 essential hypertension oboInOwl:hasDbXref OMIM:610261 semapv:UnspecifiedMatching -DOID:10825 essential hypertension oboInOwl:hasDbXref OMIM:610262 semapv:UnspecifiedMatching -DOID:10825 essential hypertension oboInOwl:hasDbXref OMIM:610948 semapv:UnspecifiedMatching -DOID:10825 essential hypertension oboInOwl:hasDbXref OMIM:611014 semapv:UnspecifiedMatching DOID:10825 essential hypertension oboInOwl:hasDbXref ORDO:243761 semapv:UnspecifiedMatching DOID:10825 essential hypertension oboInOwl:hasDbXref UMLS:C0085580 semapv:UnspecifiedMatching DOID:10834 voyeurism oboInOwl:hasDbXref ICD10CM:F65.3 semapv:UnspecifiedMatching @@ -19043,9 +9181,7 @@ DOID:10864 partial third-nerve palsy oboInOwl:hasDbXref UMLS:C0271370 semapv:Uns DOID:10865 abducens nerve palsy oboInOwl:hasDbXref GARD:9482 semapv:UnspecifiedMatching DOID:10865 abducens nerve palsy oboInOwl:hasDbXref MESH:D020434 semapv:UnspecifiedMatching DOID:10865 abducens nerve palsy oboInOwl:hasDbXref NCI:C27593 semapv:UnspecifiedMatching -DOID:10865 abducens nerve palsy oboInOwl:hasDbXref OMIM:100200 semapv:UnspecifiedMatching DOID:10865 abducens nerve palsy oboInOwl:hasDbXref UMLS:C0271355 semapv:UnspecifiedMatching -DOID:10865 abducens nerve palsy skos:exactMatch OMIM:100200 semapv:UnspecifiedMatching DOID:10866 total third-nerve palsy oboInOwl:hasDbXref ICD9CM:378.52 semapv:UnspecifiedMatching DOID:10866 total third-nerve palsy oboInOwl:hasDbXref MESH:D015840 semapv:UnspecifiedMatching DOID:10866 total third-nerve palsy oboInOwl:hasDbXref UMLS:C0271371 semapv:UnspecifiedMatching @@ -19054,9 +9190,7 @@ DOID:10871 age related macular degeneration oboInOwl:hasDbXref ICD10CM:H35.30 se DOID:10871 age related macular degeneration oboInOwl:hasDbXref ICD9CM:362.50 semapv:UnspecifiedMatching DOID:10871 age related macular degeneration oboInOwl:hasDbXref MESH:D008268 semapv:UnspecifiedMatching DOID:10871 age related macular degeneration oboInOwl:hasDbXref NCI:C84391 semapv:UnspecifiedMatching -DOID:10871 age related macular degeneration oboInOwl:hasDbXref OMIMPS:603075 semapv:UnspecifiedMatching DOID:10871 age related macular degeneration oboInOwl:hasDbXref UMLS:C0242383 semapv:UnspecifiedMatching -DOID:10871 age related macular degeneration skos:exactMatch OMIMPS:603075 semapv:UnspecifiedMatching DOID:10873 Kuhnt-Junius degeneration oboInOwl:hasDbXref ICD10CM:H35.32 semapv:UnspecifiedMatching DOID:10873 Kuhnt-Junius degeneration oboInOwl:hasDbXref ICD9CM:362.52 semapv:UnspecifiedMatching DOID:10873 Kuhnt-Junius degeneration oboInOwl:hasDbXref UMLS:C0271084 semapv:UnspecifiedMatching @@ -19088,10 +9222,6 @@ DOID:1089 tethered spinal cord syndrome skos:exactMatch NCI:C99080 semapv:Unspec DOID:10892 hypospadias oboInOwl:hasDbXref ICD10CM:Q54 semapv:UnspecifiedMatching DOID:10892 hypospadias oboInOwl:hasDbXref MESH:D007021 semapv:UnspecifiedMatching DOID:10892 hypospadias oboInOwl:hasDbXref NCI:C40341 semapv:UnspecifiedMatching -DOID:10892 hypospadias oboInOwl:hasDbXref OMIM:146450 semapv:UnspecifiedMatching -DOID:10892 hypospadias oboInOwl:hasDbXref OMIM:300633 semapv:UnspecifiedMatching -DOID:10892 hypospadias oboInOwl:hasDbXref OMIM:300758 semapv:UnspecifiedMatching -DOID:10892 hypospadias oboInOwl:hasDbXref OMIM:300856 semapv:UnspecifiedMatching DOID:10892 hypospadias oboInOwl:hasDbXref ORDO:440 semapv:UnspecifiedMatching DOID:10892 hypospadias oboInOwl:hasDbXref UMLS:C0848558 semapv:UnspecifiedMatching DOID:10907 microcephaly oboInOwl:hasDbXref GARD:3603 semapv:UnspecifiedMatching @@ -19106,11 +9236,6 @@ DOID:10908 hydrocephalus oboInOwl:hasDbXref GARD:6682 semapv:UnspecifiedMatching DOID:10908 hydrocephalus oboInOwl:hasDbXref ICD10CM:G91 semapv:UnspecifiedMatching DOID:10908 hydrocephalus oboInOwl:hasDbXref MESH:D006849 semapv:UnspecifiedMatching DOID:10908 hydrocephalus oboInOwl:hasDbXref NCI:C3111 semapv:UnspecifiedMatching -DOID:10908 hydrocephalus oboInOwl:hasDbXref OMIM:123155 semapv:UnspecifiedMatching -DOID:10908 hydrocephalus oboInOwl:hasDbXref OMIM:236600 semapv:UnspecifiedMatching -DOID:10908 hydrocephalus oboInOwl:hasDbXref OMIM:236635 semapv:UnspecifiedMatching -DOID:10908 hydrocephalus oboInOwl:hasDbXref OMIM:307000 semapv:UnspecifiedMatching -DOID:10908 hydrocephalus oboInOwl:hasDbXref OMIM:615219 semapv:UnspecifiedMatching DOID:10908 hydrocephalus oboInOwl:hasDbXref ORDO:2182 semapv:UnspecifiedMatching DOID:10908 hydrocephalus oboInOwl:hasDbXref ORDO:2185 semapv:UnspecifiedMatching DOID:10908 hydrocephalus oboInOwl:hasDbXref UMLS:C0020255 semapv:UnspecifiedMatching @@ -19127,9 +9252,7 @@ DOID:10914 amnestic disorder oboInOwl:hasDbXref UMLS:C0002622 semapv:Unspecified DOID:10914 amnestic disorder oboInOwl:hasDbXref UMLS:C0002625 semapv:UnspecifiedMatching DOID:10915 Wernicke-Korsakoff syndrome oboInOwl:hasDbXref MESH:D020915 semapv:UnspecifiedMatching DOID:10915 Wernicke-Korsakoff syndrome oboInOwl:hasDbXref NCI:C35764 semapv:UnspecifiedMatching -DOID:10915 Wernicke-Korsakoff syndrome oboInOwl:hasDbXref OMIM:277730 semapv:UnspecifiedMatching DOID:10915 Wernicke-Korsakoff syndrome oboInOwl:hasDbXref UMLS:C0349464 semapv:UnspecifiedMatching -DOID:10915 Wernicke-Korsakoff syndrome skos:exactMatch OMIM:277730 semapv:UnspecifiedMatching DOID:10921 Siberian tick typhus oboInOwl:hasDbXref ICD10CM:A77.2 semapv:UnspecifiedMatching DOID:10921 Siberian tick typhus oboInOwl:hasDbXref ICD9CM:082.2 semapv:UnspecifiedMatching DOID:10921 Siberian tick typhus oboInOwl:hasDbXref MESH:D000073605 semapv:UnspecifiedMatching @@ -19204,13 +9327,6 @@ DOID:10939 antisocial personality disorder oboInOwl:hasDbXref NCI:C88413 semapv: DOID:10939 antisocial personality disorder oboInOwl:hasDbXref UMLS:C0003431 semapv:UnspecifiedMatching DOID:1094 attention deficit hyperactivity disorder oboInOwl:hasDbXref EFO:0003888 semapv:UnspecifiedMatching DOID:1094 attention deficit hyperactivity disorder oboInOwl:hasDbXref MESH:D001289 semapv:UnspecifiedMatching -DOID:1094 attention deficit hyperactivity disorder oboInOwl:hasDbXref OMIM:143465 semapv:UnspecifiedMatching -DOID:1094 attention deficit hyperactivity disorder oboInOwl:hasDbXref OMIM:608903 semapv:UnspecifiedMatching -DOID:1094 attention deficit hyperactivity disorder oboInOwl:hasDbXref OMIM:608904 semapv:UnspecifiedMatching -DOID:1094 attention deficit hyperactivity disorder oboInOwl:hasDbXref OMIM:608905 semapv:UnspecifiedMatching -DOID:1094 attention deficit hyperactivity disorder oboInOwl:hasDbXref OMIM:608906 semapv:UnspecifiedMatching -DOID:1094 attention deficit hyperactivity disorder oboInOwl:hasDbXref OMIM:612311 semapv:UnspecifiedMatching -DOID:1094 attention deficit hyperactivity disorder oboInOwl:hasDbXref OMIM:612312 semapv:UnspecifiedMatching DOID:1094 attention deficit hyperactivity disorder oboInOwl:hasDbXref UMLS:C0041671 semapv:UnspecifiedMatching DOID:10941 intracranial aneurysm oboInOwl:hasDbXref EFO:0003870 semapv:UnspecifiedMatching DOID:10941 intracranial aneurysm oboInOwl:hasDbXref MESH:D002532 semapv:UnspecifiedMatching @@ -19265,10 +9381,8 @@ DOID:10969 hemiplegia oboInOwl:hasDbXref UMLS:C0392550 semapv:UnspecifiedMatchin DOID:10970 spastic quadriplegic cerebral palsy oboInOwl:hasDbXref GARD:10447 semapv:UnspecifiedMatching DOID:10970 spastic quadriplegic cerebral palsy oboInOwl:hasDbXref ICD9CM:343.2 semapv:UnspecifiedMatching DOID:10970 spastic quadriplegic cerebral palsy oboInOwl:hasDbXref MESH:D002547 semapv:UnspecifiedMatching -DOID:10970 spastic quadriplegic cerebral palsy oboInOwl:hasDbXref OMIMPS:612900 semapv:UnspecifiedMatching DOID:10970 spastic quadriplegic cerebral palsy oboInOwl:hasDbXref ORDO:210141 semapv:UnspecifiedMatching DOID:10970 spastic quadriplegic cerebral palsy oboInOwl:hasDbXref UMLS:C0154697 semapv:UnspecifiedMatching -DOID:10970 spastic quadriplegic cerebral palsy skos:exactMatch OMIMPS:612900 semapv:UnspecifiedMatching DOID:10971 acute salpingo-oophoritis oboInOwl:hasDbXref ICD10CM:N70.03 semapv:UnspecifiedMatching DOID:10971 acute salpingo-oophoritis oboInOwl:hasDbXref ICD9CM:614.0 semapv:UnspecifiedMatching DOID:10971 acute salpingo-oophoritis oboInOwl:hasDbXref UMLS:C0156327 semapv:UnspecifiedMatching @@ -19308,18 +9422,14 @@ DOID:1099 alpha thalassemia oboInOwl:hasDbXref ICD10CM:D56.0 semapv:UnspecifiedM DOID:1099 alpha thalassemia oboInOwl:hasDbXref ICD9CM:282.43 semapv:UnspecifiedMatching DOID:1099 alpha thalassemia oboInOwl:hasDbXref MESH:D017085 semapv:UnspecifiedMatching DOID:1099 alpha thalassemia oboInOwl:hasDbXref NCI:C34368 semapv:UnspecifiedMatching -DOID:1099 alpha thalassemia oboInOwl:hasDbXref OMIM:604131 semapv:UnspecifiedMatching DOID:1099 alpha thalassemia oboInOwl:hasDbXref UMLS:C0002312 semapv:UnspecifiedMatching -DOID:1099 alpha thalassemia skos:exactMatch OMIM:604131 semapv:UnspecifiedMatching DOID:10991 basal ganglia cerebrovascular disease oboInOwl:hasDbXref MESH:D020144 semapv:UnspecifiedMatching DOID:10991 basal ganglia cerebrovascular disease oboInOwl:hasDbXref UMLS:C0751739 semapv:UnspecifiedMatching DOID:10991 basal ganglia cerebrovascular disease skos:exactMatch MESH:D020144 semapv:UnspecifiedMatching DOID:10992 acute hemorrhagic leukoencephalitis oboInOwl:hasDbXref GARD:8629 semapv:UnspecifiedMatching DOID:10992 acute hemorrhagic leukoencephalitis oboInOwl:hasDbXref MESH:D004684 semapv:UnspecifiedMatching DOID:10992 acute hemorrhagic leukoencephalitis oboInOwl:hasDbXref NCI:C84535 semapv:UnspecifiedMatching -DOID:10992 acute hemorrhagic leukoencephalitis oboInOwl:hasDbXref OMIM:606752 semapv:UnspecifiedMatching DOID:10992 acute hemorrhagic leukoencephalitis oboInOwl:hasDbXref UMLS:C0014077 semapv:UnspecifiedMatching -DOID:10992 acute hemorrhagic leukoencephalitis skos:exactMatch OMIM:606752 semapv:UnspecifiedMatching DOID:10997 immature cataract oboInOwl:hasDbXref ICD10CM:H25.09 semapv:UnspecifiedMatching DOID:10997 immature cataract oboInOwl:hasDbXref UMLS:C0271163 semapv:UnspecifiedMatching DOID:110 lens disease oboInOwl:hasDbXref ICD10CM:H27.9 semapv:UnspecifiedMatching @@ -19371,17 +9481,13 @@ DOID:11042 Felty's syndrome oboInOwl:hasDbXref ICD10CM:M05.0 semapv:UnspecifiedM DOID:11042 Felty's syndrome oboInOwl:hasDbXref ICD9CM:714.1 semapv:UnspecifiedMatching DOID:11042 Felty's syndrome oboInOwl:hasDbXref MESH:D005258 semapv:UnspecifiedMatching DOID:11042 Felty's syndrome oboInOwl:hasDbXref NCI:C84712 semapv:UnspecifiedMatching -DOID:11042 Felty's syndrome oboInOwl:hasDbXref OMIM:134750 semapv:UnspecifiedMatching DOID:11042 Felty's syndrome oboInOwl:hasDbXref UMLS:C0015773 semapv:UnspecifiedMatching -DOID:11042 Felty's syndrome skos:exactMatch OMIM:134750 semapv:UnspecifiedMatching DOID:11044 gastroschisis oboInOwl:hasDbXref GARD:8661 semapv:UnspecifiedMatching DOID:11044 gastroschisis oboInOwl:hasDbXref ICD10CM:Q79.3 semapv:UnspecifiedMatching DOID:11044 gastroschisis oboInOwl:hasDbXref ICD9CM:756.73 semapv:UnspecifiedMatching DOID:11044 gastroschisis oboInOwl:hasDbXref MESH:D020139 semapv:UnspecifiedMatching DOID:11044 gastroschisis oboInOwl:hasDbXref NCI:C84725 semapv:UnspecifiedMatching -DOID:11044 gastroschisis oboInOwl:hasDbXref OMIM:230750 semapv:UnspecifiedMatching DOID:11044 gastroschisis oboInOwl:hasDbXref UMLS:C0265706 semapv:UnspecifiedMatching -DOID:11044 gastroschisis skos:exactMatch OMIM:230750 semapv:UnspecifiedMatching DOID:11049 meconium aspiration syndrome oboInOwl:hasDbXref GARD:10494 semapv:UnspecifiedMatching DOID:11049 meconium aspiration syndrome oboInOwl:hasDbXref ICD10CM:P24.01 semapv:UnspecifiedMatching DOID:11049 meconium aspiration syndrome oboInOwl:hasDbXref MESH:D008471 semapv:UnspecifiedMatching @@ -19394,10 +9500,8 @@ DOID:11054 urinary bladder cancer oboInOwl:hasDbXref KEGG:05219 semapv:Unspecifi DOID:11054 urinary bladder cancer oboInOwl:hasDbXref MESH:D001749 semapv:UnspecifiedMatching DOID:11054 urinary bladder cancer oboInOwl:hasDbXref NCI:C2901 semapv:UnspecifiedMatching DOID:11054 urinary bladder cancer oboInOwl:hasDbXref NCI:C9334 semapv:UnspecifiedMatching -DOID:11054 urinary bladder cancer oboInOwl:hasDbXref OMIM:109800 semapv:UnspecifiedMatching DOID:11054 urinary bladder cancer oboInOwl:hasDbXref UMLS:C0005684 semapv:UnspecifiedMatching DOID:11054 urinary bladder cancer oboInOwl:hasDbXref UMLS:C0005695 semapv:UnspecifiedMatching -DOID:11054 urinary bladder cancer skos:exactMatch OMIM:109800 semapv:UnspecifiedMatching DOID:11055 pasteurellosis oboInOwl:hasDbXref ICD10CM:A28.0 semapv:UnspecifiedMatching DOID:11055 pasteurellosis oboInOwl:hasDbXref ICD9CM:027.2 semapv:UnspecifiedMatching DOID:11055 pasteurellosis oboInOwl:hasDbXref MESH:D010326 semapv:UnspecifiedMatching @@ -19462,9 +9566,7 @@ DOID:11104 spotted fever oboInOwl:hasDbXref ICD9CM:082.0 semapv:UnspecifiedMatch DOID:11104 spotted fever oboInOwl:hasDbXref MESH:D000073605 semapv:UnspecifiedMatching DOID:11104 spotted fever oboInOwl:hasDbXref UMLS:C0038041 semapv:UnspecifiedMatching DOID:11105 fundus albipunctatus oboInOwl:hasDbXref MESH:C562733 semapv:UnspecifiedMatching -DOID:11105 fundus albipunctatus oboInOwl:hasDbXref OMIM:136880 semapv:UnspecifiedMatching DOID:11105 fundus albipunctatus oboInOwl:hasDbXref UMLS:C0311338 semapv:UnspecifiedMatching -DOID:11105 fundus albipunctatus skos:exactMatch OMIM:136880 semapv:UnspecifiedMatching DOID:11111 hydronephrosis oboInOwl:hasDbXref ICD10CM:N13.30 semapv:UnspecifiedMatching DOID:11111 hydronephrosis oboInOwl:hasDbXref ICD9CM:591 semapv:UnspecifiedMatching DOID:11111 hydronephrosis oboInOwl:hasDbXref MESH:D006869 semapv:UnspecifiedMatching @@ -19476,9 +9578,7 @@ DOID:11119 Gilles de la Tourette syndrome oboInOwl:hasDbXref ICD10CM:F95.2 semap DOID:11119 Gilles de la Tourette syndrome oboInOwl:hasDbXref ICD9CM:307.23 semapv:UnspecifiedMatching DOID:11119 Gilles de la Tourette syndrome oboInOwl:hasDbXref MESH:D005879 semapv:UnspecifiedMatching DOID:11119 Gilles de la Tourette syndrome oboInOwl:hasDbXref NCI:C35078 semapv:UnspecifiedMatching -DOID:11119 Gilles de la Tourette syndrome oboInOwl:hasDbXref OMIM:137580 semapv:UnspecifiedMatching DOID:11119 Gilles de la Tourette syndrome oboInOwl:hasDbXref UMLS:C0040517 semapv:UnspecifiedMatching -DOID:11119 Gilles de la Tourette syndrome skos:exactMatch OMIM:137580 semapv:UnspecifiedMatching DOID:11120 psychologic dyspareunia oboInOwl:hasDbXref ICD10CM:F52.6 semapv:UnspecifiedMatching DOID:11120 psychologic dyspareunia oboInOwl:hasDbXref ICD9CM:302.76 semapv:UnspecifiedMatching DOID:11120 psychologic dyspareunia oboInOwl:hasDbXref UMLS:C0154466 semapv:UnspecifiedMatching @@ -19539,9 +9639,7 @@ DOID:11156 anhidrosis oboInOwl:hasDbXref ICD10CM:L74.4 semapv:UnspecifiedMatchin DOID:11156 anhidrosis oboInOwl:hasDbXref ICD9CM:705.0 semapv:UnspecifiedMatching DOID:11156 anhidrosis oboInOwl:hasDbXref MESH:D007007 semapv:UnspecifiedMatching DOID:11156 anhidrosis oboInOwl:hasDbXref NCI:C34385 semapv:UnspecifiedMatching -DOID:11156 anhidrosis oboInOwl:hasDbXref OMIM:206600 semapv:UnspecifiedMatching DOID:11156 anhidrosis oboInOwl:hasDbXref UMLS:C0003028 semapv:UnspecifiedMatching -DOID:11156 anhidrosis skos:exactMatch OMIM:206600 semapv:UnspecifiedMatching DOID:1116 pertussis oboInOwl:hasDbXref KEGG:05133 semapv:UnspecifiedMatching DOID:1116 pertussis oboInOwl:hasDbXref MESH:D001885 semapv:UnspecifiedMatching DOID:1116 pertussis oboInOwl:hasDbXref UMLS:C0006015 semapv:UnspecifiedMatching @@ -19556,9 +9654,7 @@ DOID:11164 band keratopathy oboInOwl:hasDbXref ICD10CM:H18.42 semapv:Unspecified DOID:11164 band keratopathy oboInOwl:hasDbXref ICD9CM:371.43 semapv:UnspecifiedMatching DOID:11164 band keratopathy oboInOwl:hasDbXref MESH:C562399 semapv:UnspecifiedMatching DOID:11164 band keratopathy oboInOwl:hasDbXref NCI:C118765 semapv:UnspecifiedMatching -DOID:11164 band keratopathy oboInOwl:hasDbXref OMIM:217500 semapv:UnspecifiedMatching DOID:11164 band keratopathy oboInOwl:hasDbXref UMLS:C0155120 semapv:UnspecifiedMatching -DOID:11164 band keratopathy skos:exactMatch OMIM:217500 semapv:UnspecifiedMatching DOID:11165 common wart oboInOwl:hasDbXref NCI:C5028 semapv:UnspecifiedMatching DOID:11165 common wart oboInOwl:hasDbXref UMLS:C0043037 semapv:UnspecifiedMatching DOID:11166 Human papillomavirus infectious disease oboInOwl:hasDbXref MESH:D030361 semapv:UnspecifiedMatching @@ -19617,9 +9713,7 @@ DOID:11198 DiGeorge syndrome oboInOwl:hasDbXref ICD10CM:D82.1 semapv:Unspecified DOID:11198 DiGeorge syndrome oboInOwl:hasDbXref ICD9CM:279.11 semapv:UnspecifiedMatching DOID:11198 DiGeorge syndrome oboInOwl:hasDbXref MESH:D004062 semapv:UnspecifiedMatching DOID:11198 DiGeorge syndrome oboInOwl:hasDbXref NCI:C2989 semapv:UnspecifiedMatching -DOID:11198 DiGeorge syndrome oboInOwl:hasDbXref OMIM:188400 semapv:UnspecifiedMatching DOID:11198 DiGeorge syndrome oboInOwl:hasDbXref UMLS:C0012236 semapv:UnspecifiedMatching -DOID:11198 DiGeorge syndrome skos:exactMatch OMIM:188400 semapv:UnspecifiedMatching DOID:11199 hypoparathyroidism oboInOwl:hasDbXref GARD:6733 semapv:UnspecifiedMatching DOID:11199 hypoparathyroidism oboInOwl:hasDbXref ICD10CM:E20 semapv:UnspecifiedMatching DOID:11199 hypoparathyroidism oboInOwl:hasDbXref ICD9CM:252.1 semapv:UnspecifiedMatching @@ -19651,11 +9745,9 @@ DOID:11202 primary hyperparathyroidism oboInOwl:hasDbXref ICD10CM:E21.0 semapv:U DOID:11202 primary hyperparathyroidism oboInOwl:hasDbXref ICD9CM:252.01 semapv:UnspecifiedMatching DOID:11202 primary hyperparathyroidism oboInOwl:hasDbXref MESH:D049950 semapv:UnspecifiedMatching DOID:11202 primary hyperparathyroidism oboInOwl:hasDbXref NCI:C48280 semapv:UnspecifiedMatching -DOID:11202 primary hyperparathyroidism oboInOwl:hasDbXref OMIM:600166 semapv:UnspecifiedMatching DOID:11202 primary hyperparathyroidism oboInOwl:hasDbXref ORDO:99878 semapv:UnspecifiedMatching DOID:11202 primary hyperparathyroidism oboInOwl:hasDbXref UMLS:C0221002 semapv:UnspecifiedMatching DOID:11202 primary hyperparathyroidism oboInOwl:hasDbXref UMLS:C0271846 semapv:UnspecifiedMatching -DOID:11202 primary hyperparathyroidism skos:exactMatch OMIM:600166 semapv:UnspecifiedMatching DOID:11203 Angelucci's syndrome oboInOwl:hasDbXref ICD10CM:H10.1 semapv:UnspecifiedMatching DOID:11203 Angelucci's syndrome oboInOwl:hasDbXref ICD9CM:372.05 semapv:UnspecifiedMatching DOID:11203 Angelucci's syndrome oboInOwl:hasDbXref NCI:C34353 semapv:UnspecifiedMatching @@ -19668,9 +9760,7 @@ DOID:11206 opioid abuse oboInOwl:hasDbXref ICD9CM:305.5 semapv:UnspecifiedMatchi DOID:11206 opioid abuse oboInOwl:hasDbXref MESH:D009293 semapv:UnspecifiedMatching DOID:11206 opioid abuse oboInOwl:hasDbXref UMLS:C0029095 semapv:UnspecifiedMatching DOID:11211 buphthalmos oboInOwl:hasDbXref ICD9CM:743.21 semapv:UnspecifiedMatching -DOID:11211 buphthalmos oboInOwl:hasDbXref OMIM:231300 semapv:UnspecifiedMatching DOID:11211 buphthalmos oboInOwl:hasDbXref UMLS:C0311251 semapv:UnspecifiedMatching -DOID:11211 buphthalmos skos:exactMatch OMIM:231300 semapv:UnspecifiedMatching DOID:11212 hydrophthalmos oboInOwl:hasDbXref ICD10CM:Q15.0 semapv:UnspecifiedMatching DOID:11212 hydrophthalmos oboInOwl:hasDbXref MESH:D006871 semapv:UnspecifiedMatching DOID:11212 hydrophthalmos oboInOwl:hasDbXref NCI:C50648 semapv:UnspecifiedMatching @@ -19748,9 +9838,7 @@ DOID:11249 vitamin K deficiency bleeding oboInOwl:hasDbXref MESH:D014813 semapv: DOID:11249 vitamin K deficiency bleeding oboInOwl:hasDbXref NCI:C99108 semapv:UnspecifiedMatching DOID:11249 vitamin K deficiency bleeding oboInOwl:hasDbXref UMLS:C0042880 semapv:UnspecifiedMatching DOID:11252 microcytic anemia oboInOwl:hasDbXref MESH:C562385 semapv:UnspecifiedMatching -DOID:11252 microcytic anemia oboInOwl:hasDbXref OMIM:206200 semapv:UnspecifiedMatching DOID:11252 microcytic anemia oboInOwl:hasDbXref UMLS:C0085576 semapv:UnspecifiedMatching -DOID:11252 microcytic anemia skos:exactMatch OMIM:206200 semapv:UnspecifiedMatching DOID:11254 Brill-Zinsser disease oboInOwl:hasDbXref ICD10CM:A75.1 semapv:UnspecifiedMatching DOID:11254 Brill-Zinsser disease oboInOwl:hasDbXref ICD9CM:081.1 semapv:UnspecifiedMatching DOID:11254 Brill-Zinsser disease oboInOwl:hasDbXref MESH:D014438 semapv:UnspecifiedMatching @@ -19873,10 +9961,8 @@ DOID:11329 ainhum oboInOwl:hasDbXref ICD10CM:L94.6 semapv:UnspecifiedMatching DOID:11329 ainhum oboInOwl:hasDbXref ICD9CM:136.0 semapv:UnspecifiedMatching DOID:11329 ainhum oboInOwl:hasDbXref MESH:D000387 semapv:UnspecifiedMatching DOID:11329 ainhum oboInOwl:hasDbXref NCI:C84544 semapv:UnspecifiedMatching -DOID:11329 ainhum oboInOwl:hasDbXref OMIM:103400 semapv:UnspecifiedMatching DOID:11329 ainhum oboInOwl:hasDbXref UMLS:C0001860 semapv:UnspecifiedMatching DOID:11329 ainhum skos:exactMatch MESH:D000387 semapv:UnspecifiedMatching -DOID:11329 ainhum skos:exactMatch OMIM:103400 semapv:UnspecifiedMatching DOID:11330 erysipelas oboInOwl:hasDbXref GARD:6370 semapv:UnspecifiedMatching DOID:11330 erysipelas oboInOwl:hasDbXref ICD10CM:A46 semapv:UnspecifiedMatching DOID:11330 erysipelas oboInOwl:hasDbXref ICD9CM:035 semapv:UnspecifiedMatching @@ -19919,9 +10005,7 @@ DOID:1134 gingival recession oboInOwl:hasDbXref UMLS:C0017572 semapv:Unspecified DOID:1134 gingival recession oboInOwl:hasDbXref UMLS:C0266916 semapv:UnspecifiedMatching DOID:11342 arcus senilis oboInOwl:hasDbXref ICD10CM:H18.41 semapv:UnspecifiedMatching DOID:11342 arcus senilis oboInOwl:hasDbXref MESH:D001112 semapv:UnspecifiedMatching -DOID:11342 arcus senilis oboInOwl:hasDbXref OMIM:107800 semapv:UnspecifiedMatching DOID:11342 arcus senilis oboInOwl:hasDbXref UMLS:C0003742 semapv:UnspecifiedMatching -DOID:11342 arcus senilis skos:exactMatch OMIM:107800 semapv:UnspecifiedMatching DOID:11343 scleral disease oboInOwl:hasDbXref ICD10CM:H15 semapv:UnspecifiedMatching DOID:11343 scleral disease oboInOwl:hasDbXref MESH:D015422 semapv:UnspecifiedMatching DOID:11343 scleral disease oboInOwl:hasDbXref NCI:C79717 semapv:UnspecifiedMatching @@ -19930,9 +10014,7 @@ DOID:11353 bladder diverticulum oboInOwl:hasDbXref ICD10CM:N32.3 semapv:Unspecif DOID:11353 bladder diverticulum oboInOwl:hasDbXref ICD9CM:596.3 semapv:UnspecifiedMatching DOID:11353 bladder diverticulum oboInOwl:hasDbXref MESH:C562406 semapv:UnspecifiedMatching DOID:11353 bladder diverticulum oboInOwl:hasDbXref NCI:C160155 semapv:UnspecifiedMatching -DOID:11353 bladder diverticulum oboInOwl:hasDbXref OMIM:109820 semapv:UnspecifiedMatching DOID:11353 bladder diverticulum oboInOwl:hasDbXref UMLS:C0156273 semapv:UnspecifiedMatching -DOID:11353 bladder diverticulum skos:exactMatch OMIM:109820 semapv:UnspecifiedMatching DOID:11354 stone in bladder diverticulum oboInOwl:hasDbXref ICD10CM:N21.0 semapv:UnspecifiedMatching DOID:11354 stone in bladder diverticulum oboInOwl:hasDbXref ICD9CM:594.0 semapv:UnspecifiedMatching DOID:11354 stone in bladder diverticulum oboInOwl:hasDbXref UMLS:C0156265 semapv:UnspecifiedMatching @@ -19952,9 +10034,7 @@ DOID:11364 lens subluxation skos:exactMatch MESH:D007906 semapv:UnspecifiedMatch DOID:11367 congenital aphakia oboInOwl:hasDbXref ICD10CM:Q12.3 semapv:UnspecifiedMatching DOID:11367 congenital aphakia oboInOwl:hasDbXref ICD9CM:743.35 semapv:UnspecifiedMatching DOID:11367 congenital aphakia oboInOwl:hasDbXref NCI:C35172 semapv:UnspecifiedMatching -DOID:11367 congenital aphakia oboInOwl:hasDbXref OMIM:610256 semapv:UnspecifiedMatching DOID:11367 congenital aphakia oboInOwl:hasDbXref UMLS:C0152422 semapv:UnspecifiedMatching -DOID:11367 congenital aphakia skos:exactMatch OMIM:610256 semapv:UnspecifiedMatching DOID:11371 functional diarrhea oboInOwl:hasDbXref ICD10CM:K59.1 semapv:UnspecifiedMatching DOID:11371 functional diarrhea oboInOwl:hasDbXref ICD9CM:564.5 semapv:UnspecifiedMatching DOID:11371 functional diarrhea oboInOwl:hasDbXref UMLS:C0156173 semapv:UnspecifiedMatching @@ -19983,9 +10063,7 @@ DOID:11383 cryptorchidism oboInOwl:hasDbXref ICD10CM:Q53.9 semapv:UnspecifiedMat DOID:11383 cryptorchidism oboInOwl:hasDbXref ICD9CM:752.51 semapv:UnspecifiedMatching DOID:11383 cryptorchidism oboInOwl:hasDbXref MESH:D003456 semapv:UnspecifiedMatching DOID:11383 cryptorchidism oboInOwl:hasDbXref NCI:C12326 semapv:UnspecifiedMatching -DOID:11383 cryptorchidism oboInOwl:hasDbXref OMIM:219050 semapv:UnspecifiedMatching DOID:11383 cryptorchidism oboInOwl:hasDbXref UMLS:C0010417 semapv:UnspecifiedMatching -DOID:11383 cryptorchidism skos:exactMatch OMIM:219050 semapv:UnspecifiedMatching DOID:11385 expressive language disorder oboInOwl:hasDbXref ICD10CM:F80.1 semapv:UnspecifiedMatching DOID:11385 expressive language disorder oboInOwl:hasDbXref ICD9CM:315.31 semapv:UnspecifiedMatching DOID:11385 expressive language disorder oboInOwl:hasDbXref NCI:C92562 semapv:UnspecifiedMatching @@ -20071,9 +10149,7 @@ DOID:11459 pseudotumor cerebri oboInOwl:hasDbXref ICD10CM:G93.2 semapv:Unspecifi DOID:11459 pseudotumor cerebri oboInOwl:hasDbXref ICD9CM:348.2 semapv:UnspecifiedMatching DOID:11459 pseudotumor cerebri oboInOwl:hasDbXref MESH:D011559 semapv:UnspecifiedMatching DOID:11459 pseudotumor cerebri oboInOwl:hasDbXref NCI:C85035 semapv:UnspecifiedMatching -DOID:11459 pseudotumor cerebri oboInOwl:hasDbXref OMIM:243200 semapv:UnspecifiedMatching DOID:11459 pseudotumor cerebri oboInOwl:hasDbXref UMLS:C0033845 semapv:UnspecifiedMatching -DOID:11459 pseudotumor cerebri skos:exactMatch OMIM:243200 semapv:UnspecifiedMatching DOID:11465 autonomic nervous system disease oboInOwl:hasDbXref ICD9CM:337.1 semapv:UnspecifiedMatching DOID:11465 autonomic nervous system disease oboInOwl:hasDbXref UMLS:C0154691 semapv:UnspecifiedMatching DOID:11472 subglottis cancer oboInOwl:hasDbXref ICD10CM:C32.2 semapv:UnspecifiedMatching @@ -20085,19 +10161,13 @@ DOID:11476 osteoporosis oboInOwl:hasDbXref ICD10CM:M81.0 semapv:UnspecifiedMatch DOID:11476 osteoporosis oboInOwl:hasDbXref ICD9CM:733.0 semapv:UnspecifiedMatching DOID:11476 osteoporosis oboInOwl:hasDbXref MESH:D010024 semapv:UnspecifiedMatching DOID:11476 osteoporosis oboInOwl:hasDbXref NCI:C3298 semapv:UnspecifiedMatching -DOID:11476 osteoporosis oboInOwl:hasDbXref OMIM:166710 semapv:UnspecifiedMatching DOID:11476 osteoporosis oboInOwl:hasDbXref UMLS:C0029456 semapv:UnspecifiedMatching -DOID:11476 osteoporosis skos:exactMatch OMIM:166710 semapv:UnspecifiedMatching DOID:1148 polydactyly oboInOwl:hasDbXref GARD:4410 semapv:UnspecifiedMatching DOID:1148 polydactyly oboInOwl:hasDbXref ICD10CM:Q69 semapv:UnspecifiedMatching DOID:1148 polydactyly oboInOwl:hasDbXref ICD9CM:755.0 semapv:UnspecifiedMatching DOID:1148 polydactyly oboInOwl:hasDbXref MESH:C562429 semapv:UnspecifiedMatching DOID:1148 polydactyly oboInOwl:hasDbXref MESH:D017689 semapv:UnspecifiedMatching DOID:1148 polydactyly oboInOwl:hasDbXref NCI:C87110 semapv:UnspecifiedMatching -DOID:1148 polydactyly oboInOwl:hasDbXref OMIM:174200 semapv:UnspecifiedMatching -DOID:1148 polydactyly oboInOwl:hasDbXref OMIM:174500 semapv:UnspecifiedMatching -DOID:1148 polydactyly oboInOwl:hasDbXref OMIM:174700 semapv:UnspecifiedMatching -DOID:1148 polydactyly oboInOwl:hasDbXref OMIM:603596 semapv:UnspecifiedMatching DOID:1148 polydactyly oboInOwl:hasDbXref UMLS:C0152427 semapv:UnspecifiedMatching DOID:1148 polydactyly oboInOwl:hasDbXref UMLS:C0220697 semapv:UnspecifiedMatching DOID:11481 constrictive pericarditis oboInOwl:hasDbXref ICD9CM:423.2 semapv:UnspecifiedMatching @@ -20112,9 +10182,7 @@ DOID:11486 Horner's syndrome oboInOwl:hasDbXref GARD:6670 semapv:UnspecifiedMatc DOID:11486 Horner's syndrome oboInOwl:hasDbXref ICD10CM:G90.2 semapv:UnspecifiedMatching DOID:11486 Horner's syndrome oboInOwl:hasDbXref MESH:D006732 semapv:UnspecifiedMatching DOID:11486 Horner's syndrome oboInOwl:hasDbXref NCI:C28155 semapv:UnspecifiedMatching -DOID:11486 Horner's syndrome oboInOwl:hasDbXref OMIM:143000 semapv:UnspecifiedMatching DOID:11486 Horner's syndrome oboInOwl:hasDbXref UMLS:C0019937 semapv:UnspecifiedMatching -DOID:11486 Horner's syndrome skos:exactMatch OMIM:143000 semapv:UnspecifiedMatching DOID:11488 idiopathic peripheral autonomic neuropathy oboInOwl:hasDbXref ICD10CM:G90.0 semapv:UnspecifiedMatching DOID:11488 idiopathic peripheral autonomic neuropathy oboInOwl:hasDbXref ICD9CM:337.0 semapv:UnspecifiedMatching DOID:11488 idiopathic peripheral autonomic neuropathy oboInOwl:hasDbXref UMLS:C0154690 semapv:UnspecifiedMatching @@ -20150,15 +10218,11 @@ DOID:11507 rumination disorder oboInOwl:hasDbXref NCI:C92567 semapv:UnspecifiedM DOID:11507 rumination disorder oboInOwl:hasDbXref UMLS:C0154575 semapv:UnspecifiedMatching DOID:11512 Budd-Chiari syndrome oboInOwl:hasDbXref ICD10CM:I82.0 semapv:UnspecifiedMatching DOID:11512 Budd-Chiari syndrome oboInOwl:hasDbXref MESH:D006502 semapv:UnspecifiedMatching -DOID:11512 Budd-Chiari syndrome oboInOwl:hasDbXref OMIM:600880 semapv:UnspecifiedMatching DOID:11512 Budd-Chiari syndrome oboInOwl:hasDbXref UMLS:C0019154 semapv:UnspecifiedMatching -DOID:11512 Budd-Chiari syndrome skos:exactMatch OMIM:600880 semapv:UnspecifiedMatching DOID:11514 fissured tongue oboInOwl:hasDbXref ICD10CM:K14.5 semapv:UnspecifiedMatching DOID:11514 fissured tongue oboInOwl:hasDbXref ICD9CM:529.5 semapv:UnspecifiedMatching DOID:11514 fissured tongue oboInOwl:hasDbXref MESH:D014063 semapv:UnspecifiedMatching -DOID:11514 fissured tongue oboInOwl:hasDbXref OMIM:137400 semapv:UnspecifiedMatching DOID:11514 fissured tongue oboInOwl:hasDbXref UMLS:C0040412 semapv:UnspecifiedMatching -DOID:11514 fissured tongue skos:exactMatch OMIM:137400 semapv:UnspecifiedMatching DOID:11516 hypertensive heart disease oboInOwl:hasDbXref ICD10CM:I11 semapv:UnspecifiedMatching DOID:11516 hypertensive heart disease oboInOwl:hasDbXref ICD9CM:402 semapv:UnspecifiedMatching DOID:11516 hypertensive heart disease oboInOwl:hasDbXref NCI:C157879 semapv:UnspecifiedMatching @@ -20186,10 +10250,8 @@ DOID:11547 corneal deposit oboInOwl:hasDbXref UMLS:C0162281 semapv:UnspecifiedMa DOID:11549 Adie syndrome oboInOwl:hasDbXref GARD:5749 semapv:UnspecifiedMatching DOID:11549 Adie syndrome oboInOwl:hasDbXref MESH:D000270 semapv:UnspecifiedMatching DOID:11549 Adie syndrome oboInOwl:hasDbXref NCI:C34357 semapv:UnspecifiedMatching -DOID:11549 Adie syndrome oboInOwl:hasDbXref OMIM:103100 semapv:UnspecifiedMatching DOID:11549 Adie syndrome oboInOwl:hasDbXref UMLS:C0001519 semapv:UnspecifiedMatching DOID:11549 Adie syndrome skos:exactMatch MESH:D000270 semapv:UnspecifiedMatching -DOID:11549 Adie syndrome skos:exactMatch OMIM:103100 semapv:UnspecifiedMatching DOID:11550 oculomotor nerve paralysis oboInOwl:hasDbXref ICD10CM:H49.0 semapv:UnspecifiedMatching DOID:11550 oculomotor nerve paralysis oboInOwl:hasDbXref MESH:D015840 semapv:UnspecifiedMatching DOID:11550 oculomotor nerve paralysis oboInOwl:hasDbXref NCI:C27597 semapv:UnspecifiedMatching @@ -20203,14 +10265,6 @@ DOID:11555 Fuchs' endothelial dystrophy oboInOwl:hasDbXref GARD:10018 semapv:Uns DOID:11555 Fuchs' endothelial dystrophy oboInOwl:hasDbXref ICD10CM:H18.51 semapv:UnspecifiedMatching DOID:11555 Fuchs' endothelial dystrophy oboInOwl:hasDbXref MESH:D005642 semapv:UnspecifiedMatching DOID:11555 Fuchs' endothelial dystrophy oboInOwl:hasDbXref NCI:C84721 semapv:UnspecifiedMatching -DOID:11555 Fuchs' endothelial dystrophy oboInOwl:hasDbXref OMIM:136800 semapv:UnspecifiedMatching -DOID:11555 Fuchs' endothelial dystrophy oboInOwl:hasDbXref OMIM:610158 semapv:UnspecifiedMatching -DOID:11555 Fuchs' endothelial dystrophy oboInOwl:hasDbXref OMIM:613267 semapv:UnspecifiedMatching -DOID:11555 Fuchs' endothelial dystrophy oboInOwl:hasDbXref OMIM:613268 semapv:UnspecifiedMatching -DOID:11555 Fuchs' endothelial dystrophy oboInOwl:hasDbXref OMIM:613269 semapv:UnspecifiedMatching -DOID:11555 Fuchs' endothelial dystrophy oboInOwl:hasDbXref OMIM:613270 semapv:UnspecifiedMatching -DOID:11555 Fuchs' endothelial dystrophy oboInOwl:hasDbXref OMIM:613271 semapv:UnspecifiedMatching -DOID:11555 Fuchs' endothelial dystrophy oboInOwl:hasDbXref OMIM:615523 semapv:UnspecifiedMatching DOID:11555 Fuchs' endothelial dystrophy oboInOwl:hasDbXref ORDO:98974 semapv:UnspecifiedMatching DOID:11555 Fuchs' endothelial dystrophy oboInOwl:hasDbXref UMLS:C0016781 semapv:UnspecifiedMatching DOID:11557 acute serous otitis media oboInOwl:hasDbXref ICD10CM:H65.0 semapv:UnspecifiedMatching @@ -20220,9 +10274,6 @@ DOID:11558 acute allergic serous otitis media oboInOwl:hasDbXref ICD9CM:381.04 s DOID:11558 acute allergic serous otitis media oboInOwl:hasDbXref UMLS:C0155418 semapv:UnspecifiedMatching DOID:1156 chondrocalcinosis oboInOwl:hasDbXref ICD9CM:712.1 semapv:UnspecifiedMatching DOID:1156 chondrocalcinosis oboInOwl:hasDbXref NCI:C34955 semapv:UnspecifiedMatching -DOID:1156 chondrocalcinosis oboInOwl:hasDbXref OMIM:118600 semapv:UnspecifiedMatching -DOID:1156 chondrocalcinosis oboInOwl:hasDbXref OMIM:118610 semapv:UnspecifiedMatching -DOID:1156 chondrocalcinosis oboInOwl:hasDbXref OMIM:600668 semapv:UnspecifiedMatching DOID:1156 chondrocalcinosis oboInOwl:hasDbXref ORDO:1416 semapv:UnspecifiedMatching DOID:1156 chondrocalcinosis oboInOwl:hasDbXref UMLS:C0033802 semapv:UnspecifiedMatching DOID:1156 chondrocalcinosis oboInOwl:hasDbXref UMLS:C0157852 semapv:UnspecifiedMatching @@ -20260,9 +10311,7 @@ DOID:11581 phlyctenulosis oboInOwl:hasDbXref UMLS:C0155080 semapv:UnspecifiedMat DOID:11589 Riley-Day syndrome oboInOwl:hasDbXref ICD10CM:G90.1 semapv:UnspecifiedMatching DOID:11589 Riley-Day syndrome oboInOwl:hasDbXref MESH:D004402 semapv:UnspecifiedMatching DOID:11589 Riley-Day syndrome oboInOwl:hasDbXref NCI:C84706 semapv:UnspecifiedMatching -DOID:11589 Riley-Day syndrome oboInOwl:hasDbXref OMIM:223900 semapv:UnspecifiedMatching DOID:11589 Riley-Day syndrome oboInOwl:hasDbXref UMLS:C0013364 semapv:UnspecifiedMatching -DOID:11589 Riley-Day syndrome skos:exactMatch OMIM:223900 semapv:UnspecifiedMatching DOID:1159 functional gastric disease oboInOwl:hasDbXref ICD9CM:536.8 semapv:UnspecifiedMatching DOID:1159 functional gastric disease oboInOwl:hasDbXref UMLS:C0013396 semapv:UnspecifiedMatching DOID:11593 bladder lateral wall cancer oboInOwl:hasDbXref ICD10CM:C67.2 semapv:UnspecifiedMatching @@ -20275,9 +10324,7 @@ DOID:11594 ring staphyloma oboInOwl:hasDbXref UMLS:C0155363 semapv:UnspecifiedMa DOID:11595 scleral staphyloma oboInOwl:hasDbXref UMLS:C0155359 semapv:UnspecifiedMatching DOID:11599 Frey syndrome oboInOwl:hasDbXref GARD:6467 semapv:UnspecifiedMatching DOID:11599 Frey syndrome oboInOwl:hasDbXref MESH:D013547 semapv:UnspecifiedMatching -DOID:11599 Frey syndrome oboInOwl:hasDbXref OMIM:144100 semapv:UnspecifiedMatching DOID:11599 Frey syndrome oboInOwl:hasDbXref UMLS:C0038994 semapv:UnspecifiedMatching -DOID:11599 Frey syndrome skos:exactMatch OMIM:144100 semapv:UnspecifiedMatching DOID:116 pericardium cancer oboInOwl:hasDbXref ICD10CM:C38.0 semapv:UnspecifiedMatching DOID:116 pericardium cancer oboInOwl:hasDbXref NCI:C4567 semapv:UnspecifiedMatching DOID:116 pericardium cancer oboInOwl:hasDbXref NCI:C4651 semapv:UnspecifiedMatching @@ -20295,9 +10342,7 @@ DOID:11612 polycystic ovary syndrome oboInOwl:hasDbXref ICD10CM:E28.2 semapv:Uns DOID:11612 polycystic ovary syndrome oboInOwl:hasDbXref ICD9CM:256.4 semapv:UnspecifiedMatching DOID:11612 polycystic ovary syndrome oboInOwl:hasDbXref MESH:D011085 semapv:UnspecifiedMatching DOID:11612 polycystic ovary syndrome oboInOwl:hasDbXref NCI:C26862 semapv:UnspecifiedMatching -DOID:11612 polycystic ovary syndrome oboInOwl:hasDbXref OMIM:184700 semapv:UnspecifiedMatching DOID:11612 polycystic ovary syndrome oboInOwl:hasDbXref UMLS:C0032460 semapv:UnspecifiedMatching -DOID:11612 polycystic ovary syndrome skos:exactMatch OMIM:184700 semapv:UnspecifiedMatching DOID:11613 hyperandrogenism oboInOwl:hasDbXref MESH:D017588 semapv:UnspecifiedMatching DOID:11613 hyperandrogenism oboInOwl:hasDbXref UMLS:C0206081 semapv:UnspecifiedMatching DOID:11615 penile cancer oboInOwl:hasDbXref ICD10CM:C60 semapv:UnspecifiedMatching @@ -20320,15 +10365,11 @@ DOID:11629 pelvic muscle wasting oboInOwl:hasDbXref ICD9CM:618.83 semapv:Unspeci DOID:11629 pelvic muscle wasting oboInOwl:hasDbXref UMLS:C1456255 semapv:UnspecifiedMatching DOID:11633 thyroid hormone resistance syndrome oboInOwl:hasDbXref MESH:D018382 semapv:UnspecifiedMatching DOID:11633 thyroid hormone resistance syndrome oboInOwl:hasDbXref NCI:C85191 semapv:UnspecifiedMatching -DOID:11633 thyroid hormone resistance syndrome oboInOwl:hasDbXref OMIM:188570 semapv:UnspecifiedMatching -DOID:11633 thyroid hormone resistance syndrome oboInOwl:hasDbXref OMIM:274300 semapv:UnspecifiedMatching DOID:11633 thyroid hormone resistance syndrome oboInOwl:hasDbXref UMLS:C2940786 semapv:UnspecifiedMatching DOID:11634 myxedema oboInOwl:hasDbXref ICD10CM:E03.9 semapv:UnspecifiedMatching DOID:11634 myxedema oboInOwl:hasDbXref MESH:D009230 semapv:UnspecifiedMatching DOID:11634 myxedema oboInOwl:hasDbXref NCI:C34834 semapv:UnspecifiedMatching -DOID:11634 myxedema oboInOwl:hasDbXref OMIM:255900 semapv:UnspecifiedMatching DOID:11634 myxedema oboInOwl:hasDbXref UMLS:C0027145 semapv:UnspecifiedMatching -DOID:11634 myxedema skos:exactMatch OMIM:255900 semapv:UnspecifiedMatching DOID:11637 accommodative spasm oboInOwl:hasDbXref ICD10CM:H52.53 semapv:UnspecifiedMatching DOID:11637 accommodative spasm oboInOwl:hasDbXref ICD9CM:367.53 semapv:UnspecifiedMatching DOID:11637 accommodative spasm oboInOwl:hasDbXref UMLS:C0152196 semapv:UnspecifiedMatching @@ -20348,10 +10389,8 @@ DOID:11656 cicatricial pemphigoid oboInOwl:hasDbXref ICD9CM:694.6 semapv:Unspeci DOID:11656 cicatricial pemphigoid oboInOwl:hasDbXref ICD9CM:694.61 semapv:UnspecifiedMatching DOID:11656 cicatricial pemphigoid oboInOwl:hasDbXref MESH:D010390 semapv:UnspecifiedMatching DOID:11656 cicatricial pemphigoid oboInOwl:hasDbXref NCI:C34907 semapv:UnspecifiedMatching -DOID:11656 cicatricial pemphigoid oboInOwl:hasDbXref OMIM:164185 semapv:UnspecifiedMatching DOID:11656 cicatricial pemphigoid oboInOwl:hasDbXref UMLS:C0030804 semapv:UnspecifiedMatching DOID:11656 cicatricial pemphigoid oboInOwl:hasDbXref UMLS:C0157721 semapv:UnspecifiedMatching -DOID:11656 cicatricial pemphigoid skos:exactMatch OMIM:164185 semapv:UnspecifiedMatching DOID:1166 palindromic rheumatism oboInOwl:hasDbXref GARD:7304 semapv:UnspecifiedMatching DOID:1166 palindromic rheumatism oboInOwl:hasDbXref ICD10CM:M12.3 semapv:UnspecifiedMatching DOID:1166 palindromic rheumatism oboInOwl:hasDbXref ICD9CM:719.3 semapv:UnspecifiedMatching @@ -20362,9 +10401,7 @@ DOID:1166 palindromic rheumatism oboInOwl:hasDbXref UMLS:C0158178 semapv:Unspeci DOID:11661 blue color blindness oboInOwl:hasDbXref ICD10CM:H53.55 semapv:UnspecifiedMatching DOID:11661 blue color blindness oboInOwl:hasDbXref ICD9CM:368.53 semapv:UnspecifiedMatching DOID:11661 blue color blindness oboInOwl:hasDbXref MESH:D003117 semapv:UnspecifiedMatching -DOID:11661 blue color blindness oboInOwl:hasDbXref OMIM:190900 semapv:UnspecifiedMatching DOID:11661 blue color blindness oboInOwl:hasDbXref UMLS:C0155017 semapv:UnspecifiedMatching -DOID:11661 blue color blindness skos:exactMatch OMIM:190900 semapv:UnspecifiedMatching DOID:11664 nephrosclerosis oboInOwl:hasDbXref GARD:7179 semapv:UnspecifiedMatching DOID:11664 nephrosclerosis oboInOwl:hasDbXref ICD10CM:I12 semapv:UnspecifiedMatching DOID:11664 nephrosclerosis oboInOwl:hasDbXref ICD9CM:587 semapv:UnspecifiedMatching @@ -20424,9 +10461,7 @@ DOID:11702 dysgammaglobulinemia oboInOwl:hasDbXref UMLS:C0013374 semapv:Unspecif DOID:11702 dysgammaglobulinemia skos:exactMatch MESH:D004406 semapv:UnspecifiedMatching DOID:1171 hyperlipoproteinemia type V oboInOwl:hasDbXref MESH:D006954 semapv:UnspecifiedMatching DOID:1171 hyperlipoproteinemia type V oboInOwl:hasDbXref NCI:C35645 semapv:UnspecifiedMatching -DOID:1171 hyperlipoproteinemia type V oboInOwl:hasDbXref OMIM:144650 semapv:UnspecifiedMatching DOID:1171 hyperlipoproteinemia type V oboInOwl:hasDbXref UMLS:C0020481 semapv:UnspecifiedMatching -DOID:1171 hyperlipoproteinemia type V skos:exactMatch OMIM:144650 semapv:UnspecifiedMatching DOID:11712 lipoatrophic diabetes mellitus oboInOwl:hasDbXref MESH:D003923 semapv:UnspecifiedMatching DOID:11712 lipoatrophic diabetes mellitus oboInOwl:hasDbXref NCI:C34537 semapv:UnspecifiedMatching DOID:11712 lipoatrophic diabetes mellitus oboInOwl:hasDbXref UMLS:C0011859 semapv:UnspecifiedMatching @@ -20453,45 +10488,33 @@ DOID:11718 antidepressant type abuse oboInOwl:hasDbXref UMLS:C0154540 semapv:Uns DOID:11719 oculopharyngeal muscular dystrophy oboInOwl:hasDbXref ICD10CM:G71.09 semapv:UnspecifiedMatching DOID:11719 oculopharyngeal muscular dystrophy oboInOwl:hasDbXref MESH:D039141 semapv:UnspecifiedMatching DOID:11719 oculopharyngeal muscular dystrophy oboInOwl:hasDbXref NCI:C84942 semapv:UnspecifiedMatching -DOID:11719 oculopharyngeal muscular dystrophy oboInOwl:hasDbXref OMIM:164300 semapv:UnspecifiedMatching DOID:11719 oculopharyngeal muscular dystrophy oboInOwl:hasDbXref UMLS:C0270952 semapv:UnspecifiedMatching -DOID:11719 oculopharyngeal muscular dystrophy skos:exactMatch OMIM:164300 semapv:UnspecifiedMatching DOID:1172 hyperlipoproteinemia type IV oboInOwl:hasDbXref ICD10CM:E78.1 semapv:UnspecifiedMatching DOID:1172 hyperlipoproteinemia type IV oboInOwl:hasDbXref ICD9CM:272.1 semapv:UnspecifiedMatching DOID:1172 hyperlipoproteinemia type IV oboInOwl:hasDbXref MESH:D006953 semapv:UnspecifiedMatching DOID:1172 hyperlipoproteinemia type IV oboInOwl:hasDbXref NCI:C34711 semapv:UnspecifiedMatching -DOID:1172 hyperlipoproteinemia type IV oboInOwl:hasDbXref OMIM:144600 semapv:UnspecifiedMatching -DOID:1172 hyperlipoproteinemia type IV oboInOwl:hasDbXref OMIM:145750 semapv:UnspecifiedMatching DOID:1172 hyperlipoproteinemia type IV oboInOwl:hasDbXref UMLS:C0020480 semapv:UnspecifiedMatching DOID:11720 distal myopathy oboInOwl:hasDbXref ICD10CM:G71.09 semapv:UnspecifiedMatching DOID:11720 distal myopathy oboInOwl:hasDbXref MESH:D049310 semapv:UnspecifiedMatching DOID:11720 distal myopathy oboInOwl:hasDbXref NCI:C84675 semapv:UnspecifiedMatching -DOID:11720 distal myopathy oboInOwl:hasDbXref OMIMPS:160500 semapv:UnspecifiedMatching DOID:11720 distal myopathy oboInOwl:hasDbXref ORDO:399096 semapv:UnspecifiedMatching DOID:11720 distal myopathy oboInOwl:hasDbXref ORDO:5448 semapv:UnspecifiedMatching DOID:11720 distal myopathy oboInOwl:hasDbXref ORDO:59135 semapv:UnspecifiedMatching DOID:11720 distal myopathy oboInOwl:hasDbXref UMLS:C0751336 semapv:UnspecifiedMatching -DOID:11720 distal myopathy skos:exactMatch OMIMPS:160500 semapv:UnspecifiedMatching DOID:11721 glycogen storage disease VII oboInOwl:hasDbXref ICD10CM:E74.09 semapv:UnspecifiedMatching DOID:11721 glycogen storage disease VII oboInOwl:hasDbXref MESH:D006014 semapv:UnspecifiedMatching DOID:11721 glycogen storage disease VII oboInOwl:hasDbXref NCI:C118437 semapv:UnspecifiedMatching -DOID:11721 glycogen storage disease VII oboInOwl:hasDbXref OMIM:232800 semapv:UnspecifiedMatching DOID:11721 glycogen storage disease VII oboInOwl:hasDbXref UMLS:C0017926 semapv:UnspecifiedMatching -DOID:11721 glycogen storage disease VII skos:exactMatch OMIM:232800 semapv:UnspecifiedMatching DOID:11722 myotonic dystrophy type 1 oboInOwl:hasDbXref GARD:8310 semapv:UnspecifiedMatching DOID:11722 myotonic dystrophy type 1 oboInOwl:hasDbXref ICD10CM:G71.11 semapv:UnspecifiedMatching DOID:11722 myotonic dystrophy type 1 oboInOwl:hasDbXref ICD9CM:359.21 semapv:UnspecifiedMatching DOID:11722 myotonic dystrophy type 1 oboInOwl:hasDbXref MESH:D009223 semapv:UnspecifiedMatching DOID:11722 myotonic dystrophy type 1 oboInOwl:hasDbXref NCI:C84914 semapv:UnspecifiedMatching -DOID:11722 myotonic dystrophy type 1 oboInOwl:hasDbXref OMIM:160900 semapv:UnspecifiedMatching DOID:11722 myotonic dystrophy type 1 oboInOwl:hasDbXref UMLS:C0027126 semapv:UnspecifiedMatching -DOID:11722 myotonic dystrophy type 1 skos:exactMatch OMIM:160900 semapv:UnspecifiedMatching DOID:11723 Duchenne muscular dystrophy oboInOwl:hasDbXref GARD:6291 semapv:UnspecifiedMatching DOID:11723 Duchenne muscular dystrophy oboInOwl:hasDbXref MESH:D020388 semapv:UnspecifiedMatching DOID:11723 Duchenne muscular dystrophy oboInOwl:hasDbXref NCI:C75482 semapv:UnspecifiedMatching -DOID:11723 Duchenne muscular dystrophy oboInOwl:hasDbXref OMIM:310200 semapv:UnspecifiedMatching DOID:11723 Duchenne muscular dystrophy oboInOwl:hasDbXref UMLS:C0013264 semapv:UnspecifiedMatching -DOID:11723 Duchenne muscular dystrophy skos:exactMatch OMIM:310200 semapv:UnspecifiedMatching DOID:11724 limb-girdle muscular dystrophy oboInOwl:hasDbXref GARD:6907 semapv:UnspecifiedMatching DOID:11724 limb-girdle muscular dystrophy oboInOwl:hasDbXref ICD10CM:G71.03 semapv:UnspecifiedMatching DOID:11724 limb-girdle muscular dystrophy oboInOwl:hasDbXref MESH:D049288 semapv:UnspecifiedMatching @@ -20502,17 +10525,13 @@ DOID:11725 Cornelia de Lange syndrome oboInOwl:hasDbXref GARD:10109 semapv:Unspe DOID:11725 Cornelia de Lange syndrome oboInOwl:hasDbXref ICD10CM:Q87.19 semapv:UnspecifiedMatching DOID:11725 Cornelia de Lange syndrome oboInOwl:hasDbXref MESH:D003635 semapv:UnspecifiedMatching DOID:11725 Cornelia de Lange syndrome oboInOwl:hasDbXref NCI:C75016 semapv:UnspecifiedMatching -DOID:11725 Cornelia de Lange syndrome oboInOwl:hasDbXref OMIMPS:122470 semapv:UnspecifiedMatching DOID:11725 Cornelia de Lange syndrome oboInOwl:hasDbXref ORDO:199 semapv:UnspecifiedMatching DOID:11725 Cornelia de Lange syndrome oboInOwl:hasDbXref UMLS:C0270972 semapv:UnspecifiedMatching -DOID:11725 Cornelia de Lange syndrome skos:exactMatch OMIMPS:122470 semapv:UnspecifiedMatching DOID:11726 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref GARD:6329 semapv:UnspecifiedMatching DOID:11726 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref MESH:D020389 semapv:UnspecifiedMatching DOID:11726 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref NCI:C84685 semapv:UnspecifiedMatching -DOID:11726 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref OMIMPS:310300 semapv:UnspecifiedMatching DOID:11726 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref ORDO:261 semapv:UnspecifiedMatching DOID:11726 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref UMLS:C0410189 semapv:UnspecifiedMatching -DOID:11726 Emery-Dreifuss muscular dystrophy skos:exactMatch OMIMPS:310300 semapv:UnspecifiedMatching DOID:11727 facioscapulohumeral muscular dystrophy oboInOwl:hasDbXref GARD:9941 semapv:UnspecifiedMatching DOID:11727 facioscapulohumeral muscular dystrophy oboInOwl:hasDbXref ICD10CM:G71.02 semapv:UnspecifiedMatching DOID:11727 facioscapulohumeral muscular dystrophy oboInOwl:hasDbXref MESH:D020391 semapv:UnspecifiedMatching @@ -20577,9 +10596,7 @@ DOID:11781 regular astigmatism oboInOwl:hasDbXref UMLS:C0152193 semapv:Unspecifi DOID:11782 astigmatism oboInOwl:hasDbXref ICD10CM:H52.2 semapv:UnspecifiedMatching DOID:11782 astigmatism oboInOwl:hasDbXref ICD9CM:367.2 semapv:UnspecifiedMatching DOID:11782 astigmatism oboInOwl:hasDbXref MESH:D001251 semapv:UnspecifiedMatching -DOID:11782 astigmatism oboInOwl:hasDbXref OMIM:603047 semapv:UnspecifiedMatching DOID:11782 astigmatism oboInOwl:hasDbXref UMLS:C0004106 semapv:UnspecifiedMatching -DOID:11782 astigmatism skos:exactMatch OMIM:603047 semapv:UnspecifiedMatching DOID:11783 necrosis of ear ossicle oboInOwl:hasDbXref ICD9CM:385.24 semapv:UnspecifiedMatching DOID:11783 necrosis of ear ossicle oboInOwl:hasDbXref UMLS:C0155488 semapv:UnspecifiedMatching DOID:11786 splenic sequestration oboInOwl:hasDbXref ICD9CM:289.52 semapv:UnspecifiedMatching @@ -20630,9 +10647,7 @@ DOID:11819 ureter cancer oboInOwl:hasDbXref ICD10CM:C66 semapv:UnspecifiedMatchi DOID:11819 ureter cancer oboInOwl:hasDbXref ICD9CM:189.2 semapv:UnspecifiedMatching DOID:11819 ureter cancer oboInOwl:hasDbXref MESH:D014516 semapv:UnspecifiedMatching DOID:11819 ureter cancer oboInOwl:hasDbXref NCI:C7543 semapv:UnspecifiedMatching -DOID:11819 ureter cancer oboInOwl:hasDbXref OMIM:191600 semapv:UnspecifiedMatching DOID:11819 ureter cancer oboInOwl:hasDbXref UMLS:C0153619 semapv:UnspecifiedMatching -DOID:11819 ureter cancer skos:exactMatch OMIM:191600 semapv:UnspecifiedMatching DOID:11820 bladder dome cancer oboInOwl:hasDbXref ICD10CM:C67.1 semapv:UnspecifiedMatching DOID:11820 bladder dome cancer oboInOwl:hasDbXref ICD9CM:188.1 semapv:UnspecifiedMatching DOID:11820 bladder dome cancer oboInOwl:hasDbXref NCI:C12332 semapv:UnspecifiedMatching @@ -20660,30 +10675,6 @@ DOID:11830 myopia oboInOwl:hasDbXref ICD10CM:H52.1 semapv:UnspecifiedMatching DOID:11830 myopia oboInOwl:hasDbXref ICD9CM:367.1 semapv:UnspecifiedMatching DOID:11830 myopia oboInOwl:hasDbXref MESH:D009216 semapv:UnspecifiedMatching DOID:11830 myopia oboInOwl:hasDbXref NCI:C102533 semapv:UnspecifiedMatching -DOID:11830 myopia oboInOwl:hasDbXref OMIM:160700 semapv:UnspecifiedMatching -DOID:11830 myopia oboInOwl:hasDbXref OMIM:255500 semapv:UnspecifiedMatching -DOID:11830 myopia oboInOwl:hasDbXref OMIM:300613 semapv:UnspecifiedMatching -DOID:11830 myopia oboInOwl:hasDbXref OMIM:310460 semapv:UnspecifiedMatching -DOID:11830 myopia oboInOwl:hasDbXref OMIM:603221 semapv:UnspecifiedMatching -DOID:11830 myopia oboInOwl:hasDbXref OMIM:608367 semapv:UnspecifiedMatching -DOID:11830 myopia oboInOwl:hasDbXref OMIM:608474 semapv:UnspecifiedMatching -DOID:11830 myopia oboInOwl:hasDbXref OMIM:608908 semapv:UnspecifiedMatching -DOID:11830 myopia oboInOwl:hasDbXref OMIM:609256 semapv:UnspecifiedMatching -DOID:11830 myopia oboInOwl:hasDbXref OMIM:609257 semapv:UnspecifiedMatching -DOID:11830 myopia oboInOwl:hasDbXref OMIM:609258 semapv:UnspecifiedMatching -DOID:11830 myopia oboInOwl:hasDbXref OMIM:609259 semapv:UnspecifiedMatching -DOID:11830 myopia oboInOwl:hasDbXref OMIM:609994 semapv:UnspecifiedMatching -DOID:11830 myopia oboInOwl:hasDbXref OMIM:609995 semapv:UnspecifiedMatching -DOID:11830 myopia oboInOwl:hasDbXref OMIM:610320 semapv:UnspecifiedMatching -DOID:11830 myopia oboInOwl:hasDbXref OMIM:612554 semapv:UnspecifiedMatching -DOID:11830 myopia oboInOwl:hasDbXref OMIM:612717 semapv:UnspecifiedMatching -DOID:11830 myopia oboInOwl:hasDbXref OMIM:613959 semapv:UnspecifiedMatching -DOID:11830 myopia oboInOwl:hasDbXref OMIM:613969 semapv:UnspecifiedMatching -DOID:11830 myopia oboInOwl:hasDbXref OMIM:614166 semapv:UnspecifiedMatching -DOID:11830 myopia oboInOwl:hasDbXref OMIM:614167 semapv:UnspecifiedMatching -DOID:11830 myopia oboInOwl:hasDbXref OMIM:615420 semapv:UnspecifiedMatching -DOID:11830 myopia oboInOwl:hasDbXref OMIM:615431 semapv:UnspecifiedMatching -DOID:11830 myopia oboInOwl:hasDbXref OMIM:615946 semapv:UnspecifiedMatching DOID:11830 myopia oboInOwl:hasDbXref UMLS:C0027092 semapv:UnspecifiedMatching DOID:11830 myopia skos:exactMatch MESH:D009216 semapv:UnspecifiedMatching DOID:11831 cortical blindness oboInOwl:hasDbXref ICD10CM:H47.61 semapv:UnspecifiedMatching @@ -20698,9 +10689,7 @@ DOID:11836 clubfoot oboInOwl:hasDbXref ICD10CM:Q66.89 semapv:UnspecifiedMatching DOID:11836 clubfoot oboInOwl:hasDbXref ICD9CM:754.51 semapv:UnspecifiedMatching DOID:11836 clubfoot oboInOwl:hasDbXref MESH:D003025 semapv:UnspecifiedMatching DOID:11836 clubfoot oboInOwl:hasDbXref NCI:C84641 semapv:UnspecifiedMatching -DOID:11836 clubfoot oboInOwl:hasDbXref OMIM:119800 semapv:UnspecifiedMatching DOID:11836 clubfoot oboInOwl:hasDbXref UMLS:C0009081 semapv:UnspecifiedMatching -DOID:11836 clubfoot skos:exactMatch OMIM:119800 semapv:UnspecifiedMatching DOID:11838 penis sarcoma oboInOwl:hasDbXref NCI:C7730 semapv:UnspecifiedMatching DOID:11838 penis sarcoma oboInOwl:hasDbXref UMLS:C0238352 semapv:UnspecifiedMatching DOID:11839 glans penis cancer oboInOwl:hasDbXref ICD10CM:C60.1 semapv:UnspecifiedMatching @@ -20738,10 +10727,8 @@ DOID:11870 Pick's disease oboInOwl:hasDbXref ICD10CM:G31.01 semapv:UnspecifiedMa DOID:11870 Pick's disease oboInOwl:hasDbXref ICD9CM:331.11 semapv:UnspecifiedMatching DOID:11870 Pick's disease oboInOwl:hasDbXref MESH:D020774 semapv:UnspecifiedMatching DOID:11870 Pick's disease oboInOwl:hasDbXref NCI:C85008 semapv:UnspecifiedMatching -DOID:11870 Pick's disease oboInOwl:hasDbXref OMIM:172700 semapv:UnspecifiedMatching DOID:11870 Pick's disease oboInOwl:hasDbXref UMLS:C0236642 semapv:UnspecifiedMatching DOID:11870 Pick's disease skos:exactMatch MESH:D020774 semapv:UnspecifiedMatching -DOID:11870 Pick's disease skos:exactMatch OMIM:172700 semapv:UnspecifiedMatching DOID:11871 macular keratitis oboInOwl:hasDbXref ICD10CM:H16.11 semapv:UnspecifiedMatching DOID:11871 macular keratitis oboInOwl:hasDbXref ICD9CM:370.22 semapv:UnspecifiedMatching DOID:11871 macular keratitis oboInOwl:hasDbXref UMLS:C0155076 semapv:UnspecifiedMatching @@ -20805,9 +10792,7 @@ DOID:11949 Creutzfeldt-Jakob disease oboInOwl:hasDbXref ICD10CM:A81.0 semapv:Uns DOID:11949 Creutzfeldt-Jakob disease oboInOwl:hasDbXref ICD9CM:046.1 semapv:UnspecifiedMatching DOID:11949 Creutzfeldt-Jakob disease oboInOwl:hasDbXref MESH:D007562 semapv:UnspecifiedMatching DOID:11949 Creutzfeldt-Jakob disease oboInOwl:hasDbXref NCI:C26802 semapv:UnspecifiedMatching -DOID:11949 Creutzfeldt-Jakob disease oboInOwl:hasDbXref OMIM:123400 semapv:UnspecifiedMatching DOID:11949 Creutzfeldt-Jakob disease oboInOwl:hasDbXref UMLS:C0022336 semapv:UnspecifiedMatching -DOID:11949 Creutzfeldt-Jakob disease skos:exactMatch OMIM:123400 semapv:UnspecifiedMatching DOID:1195 ischemic neuropathy oboInOwl:hasDbXref NCI:C27025 semapv:UnspecifiedMatching DOID:1195 ischemic neuropathy oboInOwl:hasDbXref UMLS:C0238309 semapv:UnspecifiedMatching DOID:11963 esophagitis oboInOwl:hasDbXref ICD10CM:K20 semapv:UnspecifiedMatching @@ -20825,9 +10810,7 @@ DOID:11975 coloboma of optic nerve oboInOwl:hasDbXref GARD:8502 semapv:Unspecifi DOID:11975 coloboma of optic nerve oboInOwl:hasDbXref ICD10CM:Q14.2 semapv:UnspecifiedMatching DOID:11975 coloboma of optic nerve oboInOwl:hasDbXref ICD9CM:377.23 semapv:UnspecifiedMatching DOID:11975 coloboma of optic nerve oboInOwl:hasDbXref MESH:C535970 semapv:UnspecifiedMatching -DOID:11975 coloboma of optic nerve oboInOwl:hasDbXref OMIM:120430 semapv:UnspecifiedMatching DOID:11975 coloboma of optic nerve oboInOwl:hasDbXref UMLS:C0155299 semapv:UnspecifiedMatching -DOID:11975 coloboma of optic nerve skos:exactMatch OMIM:120430 semapv:UnspecifiedMatching DOID:11976 botulism oboInOwl:hasDbXref GARD:943 semapv:UnspecifiedMatching DOID:11976 botulism oboInOwl:hasDbXref ICD10CM:A05.1 semapv:UnspecifiedMatching DOID:11976 botulism oboInOwl:hasDbXref MESH:D001906 semapv:UnspecifiedMatching @@ -20842,10 +10825,8 @@ DOID:11983 Prader-Willi syndrome oboInOwl:hasDbXref ICD10CM:Q87.11 semapv:Unspec DOID:11983 Prader-Willi syndrome oboInOwl:hasDbXref ICD9CM:759.81 semapv:UnspecifiedMatching DOID:11983 Prader-Willi syndrome oboInOwl:hasDbXref MESH:D011218 semapv:UnspecifiedMatching DOID:11983 Prader-Willi syndrome oboInOwl:hasDbXref NCI:C75463 semapv:UnspecifiedMatching -DOID:11983 Prader-Willi syndrome oboInOwl:hasDbXref OMIM:176270 semapv:UnspecifiedMatching DOID:11983 Prader-Willi syndrome oboInOwl:hasDbXref ORDO:739 semapv:UnspecifiedMatching DOID:11983 Prader-Willi syndrome oboInOwl:hasDbXref UMLS:C0032897 semapv:UnspecifiedMatching -DOID:11983 Prader-Willi syndrome skos:exactMatch OMIM:176270 semapv:UnspecifiedMatching DOID:11984 hypertrophic cardiomyopathy oboInOwl:hasDbXref ICD9CM:425.1 semapv:UnspecifiedMatching DOID:11984 hypertrophic cardiomyopathy oboInOwl:hasDbXref KEGG:05410 semapv:UnspecifiedMatching DOID:11984 hypertrophic cardiomyopathy oboInOwl:hasDbXref MESH:D002312 semapv:UnspecifiedMatching @@ -20872,9 +10853,7 @@ DOID:11996 spermatic cord torsion oboInOwl:hasDbXref ICD10CM:N44.02 semapv:Unspe DOID:11996 spermatic cord torsion oboInOwl:hasDbXref ICD9CM:608.2 semapv:UnspecifiedMatching DOID:11996 spermatic cord torsion oboInOwl:hasDbXref MESH:D013086 semapv:UnspecifiedMatching DOID:11996 spermatic cord torsion oboInOwl:hasDbXref NCI:C26885 semapv:UnspecifiedMatching -DOID:11996 spermatic cord torsion oboInOwl:hasDbXref OMIM:187400 semapv:UnspecifiedMatching DOID:11996 spermatic cord torsion oboInOwl:hasDbXref UMLS:C0037856 semapv:UnspecifiedMatching -DOID:11996 spermatic cord torsion skos:exactMatch OMIM:187400 semapv:UnspecifiedMatching DOID:11997 spermatocele oboInOwl:hasDbXref ICD10CM:N43.4 semapv:UnspecifiedMatching DOID:11997 spermatocele oboInOwl:hasDbXref ICD9CM:608.1 semapv:UnspecifiedMatching DOID:11997 spermatocele oboInOwl:hasDbXref MESH:D013088 semapv:UnspecifiedMatching @@ -20946,8 +10925,6 @@ DOID:1206 Rett syndrome oboInOwl:hasDbXref GARD:5696 semapv:UnspecifiedMatching DOID:1206 Rett syndrome oboInOwl:hasDbXref ICD10CM:F84.2 semapv:UnspecifiedMatching DOID:1206 Rett syndrome oboInOwl:hasDbXref MESH:D015518 semapv:UnspecifiedMatching DOID:1206 Rett syndrome oboInOwl:hasDbXref NCI:C75488 semapv:UnspecifiedMatching -DOID:1206 Rett syndrome oboInOwl:hasDbXref OMIM:312750 semapv:UnspecifiedMatching -DOID:1206 Rett syndrome oboInOwl:hasDbXref OMIM:613454 semapv:UnspecifiedMatching DOID:1206 Rett syndrome oboInOwl:hasDbXref UMLS:C0035372 semapv:UnspecifiedMatching DOID:12064 mediastinum neurofibroma oboInOwl:hasDbXref NCI:C6631 semapv:UnspecifiedMatching DOID:12064 mediastinum neurofibroma oboInOwl:hasDbXref UMLS:C1334674 semapv:UnspecifiedMatching @@ -20973,9 +10950,7 @@ DOID:12098 trigeminal neuralgia oboInOwl:hasDbXref GARD:7805 semapv:UnspecifiedM DOID:12098 trigeminal neuralgia oboInOwl:hasDbXref ICD10CM:G50.0 semapv:UnspecifiedMatching DOID:12098 trigeminal neuralgia oboInOwl:hasDbXref ICD9CM:350.1 semapv:UnspecifiedMatching DOID:12098 trigeminal neuralgia oboInOwl:hasDbXref MESH:D014277 semapv:UnspecifiedMatching -DOID:12098 trigeminal neuralgia oboInOwl:hasDbXref OMIM:190400 semapv:UnspecifiedMatching DOID:12098 trigeminal neuralgia oboInOwl:hasDbXref UMLS:C0040997 semapv:UnspecifiedMatching -DOID:12098 trigeminal neuralgia skos:exactMatch OMIM:190400 semapv:UnspecifiedMatching DOID:121 vaginal disease oboInOwl:hasDbXref MESH:D014623 semapv:UnspecifiedMatching DOID:121 vaginal disease oboInOwl:hasDbXref NCI:C26910 semapv:UnspecifiedMatching DOID:121 vaginal disease oboInOwl:hasDbXref UMLS:C0042251 semapv:UnspecifiedMatching @@ -20993,14 +10968,10 @@ DOID:12117 pulmonary alveolar microlithiasis oboInOwl:hasDbXref GARD:11894 semap DOID:12117 pulmonary alveolar microlithiasis oboInOwl:hasDbXref ICD10CM:J84.02 semapv:UnspecifiedMatching DOID:12117 pulmonary alveolar microlithiasis oboInOwl:hasDbXref ICD9CM:516.2 semapv:UnspecifiedMatching DOID:12117 pulmonary alveolar microlithiasis oboInOwl:hasDbXref MESH:C562405 semapv:UnspecifiedMatching -DOID:12117 pulmonary alveolar microlithiasis oboInOwl:hasDbXref OMIM:265100 semapv:UnspecifiedMatching DOID:12117 pulmonary alveolar microlithiasis oboInOwl:hasDbXref UMLS:C0155912 semapv:UnspecifiedMatching -DOID:12117 pulmonary alveolar microlithiasis skos:exactMatch OMIM:265100 semapv:UnspecifiedMatching DOID:12118 pulmonary hemosiderosis oboInOwl:hasDbXref ICD10CM:J84.03 semapv:UnspecifiedMatching DOID:12118 pulmonary hemosiderosis oboInOwl:hasDbXref ICD9CM:516.1 semapv:UnspecifiedMatching DOID:12118 pulmonary hemosiderosis oboInOwl:hasDbXref MESH:C536281 semapv:UnspecifiedMatching -DOID:12118 pulmonary hemosiderosis oboInOwl:hasDbXref OMIM:178550 semapv:UnspecifiedMatching -DOID:12118 pulmonary hemosiderosis oboInOwl:hasDbXref OMIM:235500 semapv:UnspecifiedMatching DOID:12118 pulmonary hemosiderosis oboInOwl:hasDbXref ORDO:99931 semapv:UnspecifiedMatching DOID:12118 pulmonary hemosiderosis oboInOwl:hasDbXref UMLS:C0020807 semapv:UnspecifiedMatching DOID:12119 hemosiderosis oboInOwl:hasDbXref GARD:6595 semapv:UnspecifiedMatching @@ -21010,11 +10981,6 @@ DOID:12120 pulmonary alveolar proteinosis oboInOwl:hasDbXref ICD10CM:J84.01 sema DOID:12120 pulmonary alveolar proteinosis oboInOwl:hasDbXref ICD9CM:516.0 semapv:UnspecifiedMatching DOID:12120 pulmonary alveolar proteinosis oboInOwl:hasDbXref MESH:D011649 semapv:UnspecifiedMatching DOID:12120 pulmonary alveolar proteinosis oboInOwl:hasDbXref NCI:C85037 semapv:UnspecifiedMatching -DOID:12120 pulmonary alveolar proteinosis oboInOwl:hasDbXref OMIM:265120 semapv:UnspecifiedMatching -DOID:12120 pulmonary alveolar proteinosis oboInOwl:hasDbXref OMIM:300770 semapv:UnspecifiedMatching -DOID:12120 pulmonary alveolar proteinosis oboInOwl:hasDbXref OMIM:610913 semapv:UnspecifiedMatching -DOID:12120 pulmonary alveolar proteinosis oboInOwl:hasDbXref OMIM:610921 semapv:UnspecifiedMatching -DOID:12120 pulmonary alveolar proteinosis oboInOwl:hasDbXref OMIM:614370 semapv:UnspecifiedMatching DOID:12120 pulmonary alveolar proteinosis oboInOwl:hasDbXref ORDO:264675 semapv:UnspecifiedMatching DOID:12120 pulmonary alveolar proteinosis oboInOwl:hasDbXref UMLS:C0034050 semapv:UnspecifiedMatching DOID:12123 postinflammatory pulmonary fibrosis oboInOwl:hasDbXref ICD10CM:J84.10 semapv:UnspecifiedMatching @@ -21038,19 +11004,15 @@ DOID:12132 granulomatosis with polyangiitis oboInOwl:hasDbXref ICD10CM:M31.3 sem DOID:12132 granulomatosis with polyangiitis oboInOwl:hasDbXref ICD9CM:446.4 semapv:UnspecifiedMatching DOID:12132 granulomatosis with polyangiitis oboInOwl:hasDbXref MESH:D014890 semapv:UnspecifiedMatching DOID:12132 granulomatosis with polyangiitis oboInOwl:hasDbXref NCI:C3444 semapv:UnspecifiedMatching -DOID:12132 granulomatosis with polyangiitis oboInOwl:hasDbXref OMIM:608710 semapv:UnspecifiedMatching DOID:12132 granulomatosis with polyangiitis oboInOwl:hasDbXref UMLS:C3495801 semapv:UnspecifiedMatching -DOID:12132 granulomatosis with polyangiitis skos:exactMatch OMIM:608710 semapv:UnspecifiedMatching DOID:12134 factor VIII deficiency oboInOwl:hasDbXref GARD:6591 semapv:UnspecifiedMatching DOID:12134 factor VIII deficiency oboInOwl:hasDbXref ICD10CM:D66 semapv:UnspecifiedMatching DOID:12134 factor VIII deficiency oboInOwl:hasDbXref ICD9CM:286.0 semapv:UnspecifiedMatching DOID:12134 factor VIII deficiency oboInOwl:hasDbXref MESH:D006467 semapv:UnspecifiedMatching DOID:12134 factor VIII deficiency oboInOwl:hasDbXref NCI:C27146 semapv:UnspecifiedMatching -DOID:12134 factor VIII deficiency oboInOwl:hasDbXref OMIM:306700 semapv:UnspecifiedMatching DOID:12134 factor VIII deficiency oboInOwl:hasDbXref ORDO:98878 semapv:UnspecifiedMatching DOID:12134 factor VIII deficiency oboInOwl:hasDbXref UMLS:C0019069 semapv:UnspecifiedMatching DOID:12134 factor VIII deficiency skos:exactMatch MESH:D006467 semapv:UnspecifiedMatching -DOID:12134 factor VIII deficiency skos:exactMatch OMIM:306700 semapv:UnspecifiedMatching DOID:12139 dysthymic disorder oboInOwl:hasDbXref ICD10CM:F34.1 semapv:UnspecifiedMatching DOID:12139 dysthymic disorder oboInOwl:hasDbXref ICD9CM:300.4 semapv:UnspecifiedMatching DOID:12139 dysthymic disorder oboInOwl:hasDbXref MESH:D019263 semapv:UnspecifiedMatching @@ -21118,9 +11080,7 @@ DOID:12169 carpal tunnel syndrome oboInOwl:hasDbXref ICD10CM:G56.0 semapv:Unspec DOID:12169 carpal tunnel syndrome oboInOwl:hasDbXref ICD9CM:354.0 semapv:UnspecifiedMatching DOID:12169 carpal tunnel syndrome oboInOwl:hasDbXref MESH:D002349 semapv:UnspecifiedMatching DOID:12169 carpal tunnel syndrome oboInOwl:hasDbXref NCI:C34450 semapv:UnspecifiedMatching -DOID:12169 carpal tunnel syndrome oboInOwl:hasDbXref OMIMPS:115430 semapv:UnspecifiedMatching DOID:12169 carpal tunnel syndrome oboInOwl:hasDbXref UMLS:C0007286 semapv:UnspecifiedMatching -DOID:12169 carpal tunnel syndrome skos:exactMatch OMIMPS:115430 semapv:UnspecifiedMatching DOID:1217 fascioloidiasis oboInOwl:hasDbXref MESH:D005213 semapv:UnspecifiedMatching DOID:1217 fascioloidiasis oboInOwl:hasDbXref UMLS:C0015655 semapv:UnspecifiedMatching DOID:12170 radial nerve lesion oboInOwl:hasDbXref ICD10CM:G56.3 semapv:UnspecifiedMatching @@ -21141,10 +11101,8 @@ DOID:12177 common variable immunodeficiency oboInOwl:hasDbXref GARD:6140 semapv: DOID:12177 common variable immunodeficiency oboInOwl:hasDbXref ICD10CM:D83 semapv:UnspecifiedMatching DOID:12177 common variable immunodeficiency oboInOwl:hasDbXref ICD9CM:279.06 semapv:UnspecifiedMatching DOID:12177 common variable immunodeficiency oboInOwl:hasDbXref MESH:D017074 semapv:UnspecifiedMatching -DOID:12177 common variable immunodeficiency oboInOwl:hasDbXref OMIMPS:607594 semapv:UnspecifiedMatching DOID:12177 common variable immunodeficiency oboInOwl:hasDbXref ORDO:1572 semapv:UnspecifiedMatching DOID:12177 common variable immunodeficiency oboInOwl:hasDbXref UMLS:C0009447 semapv:UnspecifiedMatching -DOID:12177 common variable immunodeficiency skos:exactMatch OMIMPS:607594 semapv:UnspecifiedMatching DOID:12179 tinea corporis oboInOwl:hasDbXref ICD9CM:110.5 semapv:UnspecifiedMatching DOID:12179 tinea corporis oboInOwl:hasDbXref UMLS:C0546826 semapv:UnspecifiedMatching DOID:1218 echinostomiasis oboInOwl:hasDbXref ICD10CM:B66.8 semapv:UnspecifiedMatching @@ -21153,11 +11111,9 @@ DOID:1218 echinostomiasis oboInOwl:hasDbXref UMLS:C0013514 semapv:UnspecifiedMat DOID:12185 otosclerosis oboInOwl:hasDbXref EFO:0004213 semapv:UnspecifiedMatching DOID:12185 otosclerosis oboInOwl:hasDbXref ICD10CM:H80.80 semapv:UnspecifiedMatching DOID:12185 otosclerosis oboInOwl:hasDbXref ICD9CM:387.8 semapv:UnspecifiedMatching -DOID:12185 otosclerosis oboInOwl:hasDbXref OMIMPS:166800 semapv:UnspecifiedMatching DOID:12185 otosclerosis oboInOwl:hasDbXref ORDO:2794 semapv:UnspecifiedMatching DOID:12185 otosclerosis oboInOwl:hasDbXref UMLS:C0029696 semapv:UnspecifiedMatching DOID:12185 otosclerosis skos:exactMatch MESH:D010040 semapv:UnspecifiedMatching -DOID:12185 otosclerosis skos:exactMatch OMIMPS:166800 semapv:UnspecifiedMatching DOID:1219 dicrocoeliasis oboInOwl:hasDbXref ICD10CM:B66.2 semapv:UnspecifiedMatching DOID:1219 dicrocoeliasis oboInOwl:hasDbXref MESH:D004011 semapv:UnspecifiedMatching DOID:1219 dicrocoeliasis oboInOwl:hasDbXref UMLS:C0012102 semapv:UnspecifiedMatching @@ -21200,9 +11156,7 @@ DOID:12217 Lewy body dementia oboInOwl:hasDbXref ICD10CM:G31.83 semapv:Unspecifi DOID:12217 Lewy body dementia oboInOwl:hasDbXref ICD9CM:331.82 semapv:UnspecifiedMatching DOID:12217 Lewy body dementia oboInOwl:hasDbXref MESH:D020961 semapv:UnspecifiedMatching DOID:12217 Lewy body dementia oboInOwl:hasDbXref NCI:C84826 semapv:UnspecifiedMatching -DOID:12217 Lewy body dementia oboInOwl:hasDbXref OMIM:127750 semapv:UnspecifiedMatching DOID:12217 Lewy body dementia oboInOwl:hasDbXref UMLS:C0752347 semapv:UnspecifiedMatching -DOID:12217 Lewy body dementia skos:exactMatch OMIM:127750 semapv:UnspecifiedMatching DOID:1222 cartilage disease oboInOwl:hasDbXref ICD10CM:M94.9 semapv:UnspecifiedMatching DOID:1222 cartilage disease oboInOwl:hasDbXref MESH:D002357 semapv:UnspecifiedMatching DOID:1222 cartilage disease oboInOwl:hasDbXref UMLS:C0007302 semapv:UnspecifiedMatching @@ -21223,11 +11177,9 @@ DOID:12236 primary biliary cholangitis oboInOwl:hasDbXref ICD9CM:571.6 semapv:Un DOID:12236 primary biliary cholangitis oboInOwl:hasDbXref MESH:D008105 semapv:UnspecifiedMatching DOID:12236 primary biliary cholangitis oboInOwl:hasDbXref NCI:C27167 semapv:UnspecifiedMatching DOID:12236 primary biliary cholangitis oboInOwl:hasDbXref NCI:C51225 semapv:UnspecifiedMatching -DOID:12236 primary biliary cholangitis oboInOwl:hasDbXref OMIMPS:109720 semapv:UnspecifiedMatching DOID:12236 primary biliary cholangitis oboInOwl:hasDbXref ORDO:186 semapv:UnspecifiedMatching DOID:12236 primary biliary cholangitis oboInOwl:hasDbXref UMLS:C0008312 semapv:UnspecifiedMatching DOID:12236 primary biliary cholangitis oboInOwl:hasDbXref UMLS:C0023892 semapv:UnspecifiedMatching -DOID:12236 primary biliary cholangitis skos:exactMatch OMIMPS:109720 semapv:UnspecifiedMatching DOID:12237 bile reflux oboInOwl:hasDbXref MESH:D001655 semapv:UnspecifiedMatching DOID:12237 bile reflux oboInOwl:hasDbXref UMLS:C0005403 semapv:UnspecifiedMatching DOID:12239 anal margin squamous cell carcinoma oboInOwl:hasDbXref ICD10CM:C44.520 semapv:UnspecifiedMatching @@ -21238,10 +11190,8 @@ DOID:12241 beta thalassemia oboInOwl:hasDbXref ICD10CM:D56.1 semapv:UnspecifiedM DOID:12241 beta thalassemia oboInOwl:hasDbXref ICD9CM:282.44 semapv:UnspecifiedMatching DOID:12241 beta thalassemia oboInOwl:hasDbXref MESH:D017086 semapv:UnspecifiedMatching DOID:12241 beta thalassemia oboInOwl:hasDbXref NCI:C34375 semapv:UnspecifiedMatching -DOID:12241 beta thalassemia oboInOwl:hasDbXref OMIM:613985 semapv:UnspecifiedMatching DOID:12241 beta thalassemia oboInOwl:hasDbXref ORDO:848 semapv:UnspecifiedMatching DOID:12241 beta thalassemia oboInOwl:hasDbXref UMLS:C0005283 semapv:UnspecifiedMatching -DOID:12241 beta thalassemia skos:exactMatch OMIM:613985 semapv:UnspecifiedMatching DOID:12241 beta thalassemia skos:narrowMatch MESH:D017086 semapv:UnspecifiedMatching DOID:12246 histoplasmosis meningitis oboInOwl:hasDbXref ICD9CM:115.91 semapv:UnspecifiedMatching DOID:12246 histoplasmosis meningitis oboInOwl:hasDbXref UMLS:C0153277 semapv:UnspecifiedMatching @@ -21255,9 +11205,7 @@ DOID:12259 hemophilia B oboInOwl:hasDbXref ICD10CM:D67 semapv:UnspecifiedMatchin DOID:12259 hemophilia B oboInOwl:hasDbXref ICD9CM:286.1 semapv:UnspecifiedMatching DOID:12259 hemophilia B oboInOwl:hasDbXref MESH:D002836 semapv:UnspecifiedMatching DOID:12259 hemophilia B oboInOwl:hasDbXref NCI:C26721 semapv:UnspecifiedMatching -DOID:12259 hemophilia B oboInOwl:hasDbXref OMIM:306900 semapv:UnspecifiedMatching DOID:12259 hemophilia B oboInOwl:hasDbXref UMLS:C0008533 semapv:UnspecifiedMatching -DOID:12259 hemophilia B skos:exactMatch OMIM:306900 semapv:UnspecifiedMatching DOID:12265 chronic salpingo-oophoritis oboInOwl:hasDbXref ICD10CM:N70.1 semapv:UnspecifiedMatching DOID:12265 chronic salpingo-oophoritis oboInOwl:hasDbXref ICD9CM:614.1 semapv:UnspecifiedMatching DOID:12265 chronic salpingo-oophoritis oboInOwl:hasDbXref UMLS:C0156328 semapv:UnspecifiedMatching @@ -21269,9 +11217,6 @@ DOID:12270 coloboma oboInOwl:hasDbXref GARD:1433 semapv:UnspecifiedMatching DOID:12270 coloboma oboInOwl:hasDbXref ICD10CM:Q13.0 semapv:UnspecifiedMatching DOID:12270 coloboma oboInOwl:hasDbXref MESH:D003103 semapv:UnspecifiedMatching DOID:12270 coloboma oboInOwl:hasDbXref NCI:C98877 semapv:UnspecifiedMatching -DOID:12270 coloboma oboInOwl:hasDbXref OMIM:120200 semapv:UnspecifiedMatching -DOID:12270 coloboma oboInOwl:hasDbXref OMIM:120300 semapv:UnspecifiedMatching -DOID:12270 coloboma oboInOwl:hasDbXref OMIM:216820 semapv:UnspecifiedMatching DOID:12270 coloboma oboInOwl:hasDbXref ORDO:194 semapv:UnspecifiedMatching DOID:12270 coloboma oboInOwl:hasDbXref ORDO:98945 semapv:UnspecifiedMatching DOID:12270 coloboma oboInOwl:hasDbXref UMLS:C0009363 semapv:UnspecifiedMatching @@ -21280,7 +11225,6 @@ DOID:12271 aniridia oboInOwl:hasDbXref ICD10CM:Q13.1 semapv:UnspecifiedMatching DOID:12271 aniridia oboInOwl:hasDbXref ICD9CM:743.45 semapv:UnspecifiedMatching DOID:12271 aniridia oboInOwl:hasDbXref MESH:D015783 semapv:UnspecifiedMatching DOID:12271 aniridia oboInOwl:hasDbXref NCI:C84563 semapv:UnspecifiedMatching -DOID:12271 aniridia oboInOwl:hasDbXref OMIMPS:106210 semapv:UnspecifiedMatching DOID:12271 aniridia oboInOwl:hasDbXref ORDO:250923 semapv:UnspecifiedMatching DOID:12271 aniridia oboInOwl:hasDbXref UMLS:C0003076 semapv:UnspecifiedMatching DOID:12271 aniridia skos:exactMatch GARD:5816 semapv:UnspecifiedMatching @@ -21288,8 +11232,6 @@ DOID:12271 aniridia skos:exactMatch ICD10CM:Q13.1 semapv:UnspecifiedMatching DOID:12271 aniridia skos:exactMatch ICD9CM:743.45 semapv:UnspecifiedMatching DOID:12271 aniridia skos:exactMatch MESH:D015783 semapv:UnspecifiedMatching DOID:12271 aniridia skos:exactMatch NCI:C84563 semapv:UnspecifiedMatching -DOID:12271 aniridia skos:exactMatch OMIM:PS106210 semapv:UnspecifiedMatching -DOID:12271 aniridia skos:exactMatch OMIMPS:106210 semapv:UnspecifiedMatching DOID:12271 aniridia skos:exactMatch ORDO:250923 semapv:UnspecifiedMatching DOID:12271 aniridia skos:exactMatch UMLS:C0003076 semapv:UnspecifiedMatching DOID:12273 anisometropia oboInOwl:hasDbXref ICD10CM:H52.31 semapv:UnspecifiedMatching @@ -21338,18 +11280,14 @@ DOID:12304 conjunctival pigmentation oboInOwl:hasDbXref UMLS:C0155163 semapv:Uns DOID:12305 Bloch-Sulzberger syndrome oboInOwl:hasDbXref ICD10CM:Q82.3 semapv:UnspecifiedMatching DOID:12305 Bloch-Sulzberger syndrome oboInOwl:hasDbXref MESH:D007184 semapv:UnspecifiedMatching DOID:12305 Bloch-Sulzberger syndrome oboInOwl:hasDbXref NCI:C84787 semapv:UnspecifiedMatching -DOID:12305 Bloch-Sulzberger syndrome oboInOwl:hasDbXref OMIM:308300 semapv:UnspecifiedMatching DOID:12305 Bloch-Sulzberger syndrome oboInOwl:hasDbXref UMLS:C0021171 semapv:UnspecifiedMatching -DOID:12305 Bloch-Sulzberger syndrome skos:exactMatch OMIM:308300 semapv:UnspecifiedMatching DOID:12306 vitiligo oboInOwl:hasDbXref EFO:0004208 semapv:UnspecifiedMatching DOID:12306 vitiligo oboInOwl:hasDbXref GARD:10751 semapv:UnspecifiedMatching DOID:12306 vitiligo oboInOwl:hasDbXref ICD10CM:L80 semapv:UnspecifiedMatching DOID:12306 vitiligo oboInOwl:hasDbXref ICD9CM:709.01 semapv:UnspecifiedMatching DOID:12306 vitiligo oboInOwl:hasDbXref MESH:D014820 semapv:UnspecifiedMatching DOID:12306 vitiligo oboInOwl:hasDbXref NCI:C26915 semapv:UnspecifiedMatching -DOID:12306 vitiligo oboInOwl:hasDbXref OMIM:193200 semapv:UnspecifiedMatching DOID:12306 vitiligo oboInOwl:hasDbXref UMLS:C0042900 semapv:UnspecifiedMatching -DOID:12306 vitiligo skos:exactMatch OMIM:193200 semapv:UnspecifiedMatching DOID:12307 anterior corneal pigmentation oboInOwl:hasDbXref ICD10CM:H18.01 semapv:UnspecifiedMatching DOID:12307 anterior corneal pigmentation oboInOwl:hasDbXref ICD9CM:371.11 semapv:UnspecifiedMatching DOID:12307 anterior corneal pigmentation oboInOwl:hasDbXref UMLS:C0155104 semapv:UnspecifiedMatching @@ -21357,9 +11295,7 @@ DOID:12308 Dubin-Johnson syndrome oboInOwl:hasDbXref GARD:6289 semapv:Unspecifie DOID:12308 Dubin-Johnson syndrome oboInOwl:hasDbXref ICD10CM:E80.6 semapv:UnspecifiedMatching DOID:12308 Dubin-Johnson syndrome oboInOwl:hasDbXref MESH:D007566 semapv:UnspecifiedMatching DOID:12308 Dubin-Johnson syndrome oboInOwl:hasDbXref NCI:C34741 semapv:UnspecifiedMatching -DOID:12308 Dubin-Johnson syndrome oboInOwl:hasDbXref OMIM:237500 semapv:UnspecifiedMatching DOID:12308 Dubin-Johnson syndrome oboInOwl:hasDbXref UMLS:C0022350 semapv:UnspecifiedMatching -DOID:12308 Dubin-Johnson syndrome skos:exactMatch OMIM:237500 semapv:UnspecifiedMatching DOID:12309 urticaria pigmentosa oboInOwl:hasDbXref ICD10CM:D47.01 semapv:UnspecifiedMatching DOID:12309 urticaria pigmentosa oboInOwl:hasDbXref MESH:D014582 semapv:UnspecifiedMatching DOID:12309 urticaria pigmentosa oboInOwl:hasDbXref NCI:C3433 semapv:UnspecifiedMatching @@ -21421,10 +11357,8 @@ DOID:12347 osteogenesis imperfecta oboInOwl:hasDbXref ICD10CM:Q78.0 semapv:Unspe DOID:12347 osteogenesis imperfecta oboInOwl:hasDbXref ICD9CM:756.51 semapv:UnspecifiedMatching DOID:12347 osteogenesis imperfecta oboInOwl:hasDbXref MESH:D010013 semapv:UnspecifiedMatching DOID:12347 osteogenesis imperfecta oboInOwl:hasDbXref NCI:C26837 semapv:UnspecifiedMatching -DOID:12347 osteogenesis imperfecta oboInOwl:hasDbXref OMIMPS:166200 semapv:UnspecifiedMatching DOID:12347 osteogenesis imperfecta oboInOwl:hasDbXref ORDO:666 semapv:UnspecifiedMatching DOID:12347 osteogenesis imperfecta oboInOwl:hasDbXref UMLS:C0029434 semapv:UnspecifiedMatching -DOID:12347 osteogenesis imperfecta skos:exactMatch OMIMPS:166200 semapv:UnspecifiedMatching DOID:12349 primary eye hypotony oboInOwl:hasDbXref ICD10CM:H44.44 semapv:UnspecifiedMatching DOID:12349 primary eye hypotony oboInOwl:hasDbXref ICD9CM:360.31 semapv:UnspecifiedMatching DOID:12349 primary eye hypotony oboInOwl:hasDbXref UMLS:C0154782 semapv:UnspecifiedMatching @@ -21454,9 +11388,7 @@ DOID:12361 Graves' disease oboInOwl:hasDbXref EFO:0004237 semapv:UnspecifiedMatc DOID:12361 Graves' disease oboInOwl:hasDbXref ICD10CM:E05.0 semapv:UnspecifiedMatching DOID:12361 Graves' disease oboInOwl:hasDbXref MESH:D006111 semapv:UnspecifiedMatching DOID:12361 Graves' disease oboInOwl:hasDbXref NCI:C3071 semapv:UnspecifiedMatching -DOID:12361 Graves' disease oboInOwl:hasDbXref OMIM:275000 semapv:UnspecifiedMatching DOID:12361 Graves' disease oboInOwl:hasDbXref UMLS:C0018213 semapv:UnspecifiedMatching -DOID:12361 Graves' disease skos:exactMatch OMIM:275000 semapv:UnspecifiedMatching DOID:12362 thyrotoxic exophthalmos oboInOwl:hasDbXref ICD9CM:376.21 semapv:UnspecifiedMatching DOID:12362 thyrotoxic exophthalmos oboInOwl:hasDbXref UMLS:C0155265 semapv:UnspecifiedMatching DOID:12363 intermittent proptosis oboInOwl:hasDbXref ICD10CM:H05.25 semapv:UnspecifiedMatching @@ -21487,9 +11419,7 @@ DOID:12375 bronchopneumonia oboInOwl:hasDbXref UMLS:C0006285 semapv:UnspecifiedM DOID:12376 juvenile spinal muscular atrophy oboInOwl:hasDbXref ICD9CM:335.11 semapv:UnspecifiedMatching DOID:12376 juvenile spinal muscular atrophy oboInOwl:hasDbXref MESH:D014897 semapv:UnspecifiedMatching DOID:12376 juvenile spinal muscular atrophy oboInOwl:hasDbXref NCI:C118847 semapv:UnspecifiedMatching -DOID:12376 juvenile spinal muscular atrophy oboInOwl:hasDbXref OMIM:253400 semapv:UnspecifiedMatching DOID:12376 juvenile spinal muscular atrophy oboInOwl:hasDbXref UMLS:C0152109 semapv:UnspecifiedMatching -DOID:12376 juvenile spinal muscular atrophy skos:exactMatch OMIM:253400 semapv:UnspecifiedMatching DOID:12377 spinal muscular atrophy oboInOwl:hasDbXref GARD:7674 semapv:UnspecifiedMatching DOID:12377 spinal muscular atrophy oboInOwl:hasDbXref ICD10CM:G12.9 semapv:UnspecifiedMatching DOID:12377 spinal muscular atrophy oboInOwl:hasDbXref ICD9CM:335.1 semapv:UnspecifiedMatching @@ -21533,10 +11463,8 @@ DOID:12387 nephrogenic diabetes insipidus oboInOwl:hasDbXref ORDO:223 semapv:Uns DOID:12387 nephrogenic diabetes insipidus oboInOwl:hasDbXref UMLS:C0162283 semapv:UnspecifiedMatching DOID:12388 neurohypophyseal diabetes insipidus oboInOwl:hasDbXref MESH:D020790 semapv:UnspecifiedMatching DOID:12388 neurohypophyseal diabetes insipidus oboInOwl:hasDbXref NCI:C84933 semapv:UnspecifiedMatching -DOID:12388 neurohypophyseal diabetes insipidus oboInOwl:hasDbXref OMIM:125700 semapv:UnspecifiedMatching DOID:12388 neurohypophyseal diabetes insipidus oboInOwl:hasDbXref ORDO:30925 semapv:UnspecifiedMatching DOID:12388 neurohypophyseal diabetes insipidus oboInOwl:hasDbXref UMLS:C0687720 semapv:UnspecifiedMatching -DOID:12388 neurohypophyseal diabetes insipidus skos:exactMatch OMIM:125700 semapv:UnspecifiedMatching DOID:12395 spastic entropion oboInOwl:hasDbXref ICD9CM:374.03 semapv:UnspecifiedMatching DOID:12395 spastic entropion oboInOwl:hasDbXref UMLS:C0155190 semapv:UnspecifiedMatching DOID:12397 entropion oboInOwl:hasDbXref ICD9CM:374.00 semapv:UnspecifiedMatching @@ -21546,9 +11474,7 @@ DOID:12399 pathological gambling oboInOwl:hasDbXref ICD10CM:F63.0 semapv:Unspeci DOID:12399 pathological gambling oboInOwl:hasDbXref ICD9CM:312.31 semapv:UnspecifiedMatching DOID:12399 pathological gambling oboInOwl:hasDbXref MESH:D005715 semapv:UnspecifiedMatching DOID:12399 pathological gambling oboInOwl:hasDbXref NCI:C94335 semapv:UnspecifiedMatching -DOID:12399 pathological gambling oboInOwl:hasDbXref OMIM:606349 semapv:UnspecifiedMatching DOID:12399 pathological gambling oboInOwl:hasDbXref UMLS:C0030662 semapv:UnspecifiedMatching -DOID:12399 pathological gambling skos:exactMatch OMIM:606349 semapv:UnspecifiedMatching DOID:1240 leukemia oboInOwl:hasDbXref ICD10CM:C95.90 semapv:UnspecifiedMatching DOID:1240 leukemia oboInOwl:hasDbXref ICD9CM:208 semapv:UnspecifiedMatching DOID:1240 leukemia oboInOwl:hasDbXref ICDO:9800/3 semapv:UnspecifiedMatching @@ -21596,9 +11522,7 @@ DOID:12449 aplastic anemia oboInOwl:hasDbXref ICD10CM:D61.9 semapv:UnspecifiedMa DOID:12449 aplastic anemia oboInOwl:hasDbXref ICD9CM:284.9 semapv:UnspecifiedMatching DOID:12449 aplastic anemia oboInOwl:hasDbXref MESH:D000741 semapv:UnspecifiedMatching DOID:12449 aplastic anemia oboInOwl:hasDbXref NCI:C2870 semapv:UnspecifiedMatching -DOID:12449 aplastic anemia oboInOwl:hasDbXref OMIM:609135 semapv:UnspecifiedMatching DOID:12449 aplastic anemia oboInOwl:hasDbXref UMLS:C0002874 semapv:UnspecifiedMatching -DOID:12449 aplastic anemia skos:exactMatch OMIM:609135 semapv:UnspecifiedMatching DOID:1245 vulva cancer oboInOwl:hasDbXref GARD:9349 semapv:UnspecifiedMatching DOID:1245 vulva cancer oboInOwl:hasDbXref ICD10CM:C51 semapv:UnspecifiedMatching DOID:1245 vulva cancer oboInOwl:hasDbXref ICD9CM:184.4 semapv:UnspecifiedMatching @@ -21718,21 +11642,15 @@ DOID:12557 Duane retraction syndrome oboInOwl:hasDbXref ICD10CM:H50.81 semapv:Un DOID:12557 Duane retraction syndrome oboInOwl:hasDbXref ICD9CM:378.71 semapv:UnspecifiedMatching DOID:12557 Duane retraction syndrome oboInOwl:hasDbXref MESH:D004370 semapv:UnspecifiedMatching DOID:12557 Duane retraction syndrome oboInOwl:hasDbXref NCI:C84678 semapv:UnspecifiedMatching -DOID:12557 Duane retraction syndrome oboInOwl:hasDbXref OMIM:126800 semapv:UnspecifiedMatching -DOID:12557 Duane retraction syndrome oboInOwl:hasDbXref OMIM:604356 semapv:UnspecifiedMatching DOID:12557 Duane retraction syndrome oboInOwl:hasDbXref ORDO:233 semapv:UnspecifiedMatching DOID:12557 Duane retraction syndrome oboInOwl:hasDbXref UMLS:C0013261 semapv:UnspecifiedMatching DOID:12558 chronic progressive external ophthalmoplegia oboInOwl:hasDbXref GARD:4503 semapv:UnspecifiedMatching DOID:12558 chronic progressive external ophthalmoplegia oboInOwl:hasDbXref ICD10CM:H49.4 semapv:UnspecifiedMatching DOID:12558 chronic progressive external ophthalmoplegia oboInOwl:hasDbXref ICD9CM:378.72 semapv:UnspecifiedMatching DOID:12558 chronic progressive external ophthalmoplegia oboInOwl:hasDbXref MESH:D017246 semapv:UnspecifiedMatching -DOID:12558 chronic progressive external ophthalmoplegia oboInOwl:hasDbXref OMIMPS:157640 semapv:UnspecifiedMatching DOID:12558 chronic progressive external ophthalmoplegia oboInOwl:hasDbXref UMLS:C0162674 semapv:UnspecifiedMatching -DOID:12558 chronic progressive external ophthalmoplegia skos:exactMatch OMIMPS:157640 semapv:UnspecifiedMatching DOID:12559 idiopathic juvenile osteoporosis oboInOwl:hasDbXref ICD9CM:733.02 semapv:UnspecifiedMatching -DOID:12559 idiopathic juvenile osteoporosis oboInOwl:hasDbXref OMIM:259750 semapv:UnspecifiedMatching DOID:12559 idiopathic juvenile osteoporosis oboInOwl:hasDbXref UMLS:C0158447 semapv:UnspecifiedMatching -DOID:12559 idiopathic juvenile osteoporosis skos:exactMatch OMIM:259750 semapv:UnspecifiedMatching DOID:12566 ulceration of vulva oboInOwl:hasDbXref ICD10CM:N77.0 semapv:UnspecifiedMatching DOID:12566 ulceration of vulva oboInOwl:hasDbXref ICD9CM:616.51 semapv:UnspecifiedMatching DOID:12566 ulceration of vulva oboInOwl:hasDbXref UMLS:C0156340 semapv:UnspecifiedMatching @@ -21757,18 +11675,14 @@ DOID:12580 Cri-Du-Chat syndrome oboInOwl:hasDbXref ICD10CM:Q93.4 semapv:Unspecif DOID:12580 Cri-Du-Chat syndrome oboInOwl:hasDbXref ICD9CM:758.31 semapv:UnspecifiedMatching DOID:12580 Cri-Du-Chat syndrome oboInOwl:hasDbXref MESH:D003410 semapv:UnspecifiedMatching DOID:12580 Cri-Du-Chat syndrome oboInOwl:hasDbXref NCI:C34518 semapv:UnspecifiedMatching -DOID:12580 Cri-Du-Chat syndrome oboInOwl:hasDbXref OMIM:123450 semapv:UnspecifiedMatching DOID:12580 Cri-Du-Chat syndrome oboInOwl:hasDbXref UMLS:C0010314 semapv:UnspecifiedMatching -DOID:12580 Cri-Du-Chat syndrome skos:exactMatch OMIM:123450 semapv:UnspecifiedMatching DOID:12581 olecranon bursitis oboInOwl:hasDbXref ICD10CM:M70.2 semapv:UnspecifiedMatching DOID:12581 olecranon bursitis oboInOwl:hasDbXref ICD9CM:726.33 semapv:UnspecifiedMatching DOID:12581 olecranon bursitis oboInOwl:hasDbXref UMLS:C0263962 semapv:UnspecifiedMatching DOID:12583 velocardiofacial syndrome oboInOwl:hasDbXref ICD10CM:Q93.81 semapv:UnspecifiedMatching DOID:12583 velocardiofacial syndrome oboInOwl:hasDbXref ICD9CM:758.32 semapv:UnspecifiedMatching DOID:12583 velocardiofacial syndrome oboInOwl:hasDbXref MESH:D004062 semapv:UnspecifiedMatching -DOID:12583 velocardiofacial syndrome oboInOwl:hasDbXref OMIM:192430 semapv:UnspecifiedMatching DOID:12583 velocardiofacial syndrome oboInOwl:hasDbXref UMLS:C0220704 semapv:UnspecifiedMatching -DOID:12583 velocardiofacial syndrome skos:exactMatch OMIM:192430 semapv:UnspecifiedMatching DOID:12594 Potter's syndrome oboInOwl:hasDbXref GARD:4462 semapv:UnspecifiedMatching DOID:12594 Potter's syndrome oboInOwl:hasDbXref ICD10CM:Q60.6 semapv:UnspecifiedMatching DOID:12594 Potter's syndrome oboInOwl:hasDbXref NCI:C40435 semapv:UnspecifiedMatching @@ -21779,10 +11693,8 @@ DOID:12603 acute leukemia oboInOwl:hasDbXref ICD10CM:C95.00 semapv:UnspecifiedMa DOID:12603 acute leukemia oboInOwl:hasDbXref ICD9CM:208.0 semapv:UnspecifiedMatching DOID:12603 acute leukemia oboInOwl:hasDbXref ICDO:9801/3 semapv:UnspecifiedMatching DOID:12603 acute leukemia oboInOwl:hasDbXref NCI:C9300 semapv:UnspecifiedMatching -DOID:12603 acute leukemia oboInOwl:hasDbXref OMIM:308960 semapv:UnspecifiedMatching DOID:12603 acute leukemia oboInOwl:hasDbXref UMLS:C0085669 semapv:UnspecifiedMatching DOID:12603 acute leukemia oboInOwl:hasDbXref UMLS:C1378511 semapv:UnspecifiedMatching -DOID:12603 acute leukemia skos:exactMatch OMIM:308960 semapv:UnspecifiedMatching DOID:12637 perineocele oboInOwl:hasDbXref ICD10CM:N81.81 semapv:UnspecifiedMatching DOID:12637 perineocele oboInOwl:hasDbXref ICD9CM:618.05 semapv:UnspecifiedMatching DOID:12637 perineocele oboInOwl:hasDbXref UMLS:C1456251 semapv:UnspecifiedMatching @@ -21790,11 +11702,6 @@ DOID:12638 hypertrophic pyloric stenosis oboInOwl:hasDbXref ICD10CM:Q40.0 semapv DOID:12638 hypertrophic pyloric stenosis oboInOwl:hasDbXref ICD9CM:750.5 semapv:UnspecifiedMatching DOID:12638 hypertrophic pyloric stenosis oboInOwl:hasDbXref MESH:D046248 semapv:UnspecifiedMatching DOID:12638 hypertrophic pyloric stenosis oboInOwl:hasDbXref NCI:C98952 semapv:UnspecifiedMatching -DOID:12638 hypertrophic pyloric stenosis oboInOwl:hasDbXref OMIM:179010 semapv:UnspecifiedMatching -DOID:12638 hypertrophic pyloric stenosis oboInOwl:hasDbXref OMIM:300711 semapv:UnspecifiedMatching -DOID:12638 hypertrophic pyloric stenosis oboInOwl:hasDbXref OMIM:610260 semapv:UnspecifiedMatching -DOID:12638 hypertrophic pyloric stenosis oboInOwl:hasDbXref OMIM:612017 semapv:UnspecifiedMatching -DOID:12638 hypertrophic pyloric stenosis oboInOwl:hasDbXref OMIM:612525 semapv:UnspecifiedMatching DOID:12638 hypertrophic pyloric stenosis oboInOwl:hasDbXref UMLS:C0700639 semapv:UnspecifiedMatching DOID:12639 pyloric stenosis oboInOwl:hasDbXref ICD10CM:K31.1 semapv:UnspecifiedMatching DOID:12639 pyloric stenosis oboInOwl:hasDbXref MESH:D011707 semapv:UnspecifiedMatching @@ -21806,11 +11713,9 @@ DOID:12641 displacement of cardia through esophageal hiatus oboInOwl:hasDbXref U DOID:12642 hiatus hernia oboInOwl:hasDbXref ICD10CM:K44 semapv:UnspecifiedMatching DOID:12642 hiatus hernia oboInOwl:hasDbXref MESH:D006551 semapv:UnspecifiedMatching DOID:12642 hiatus hernia oboInOwl:hasDbXref NCI:C98945 semapv:UnspecifiedMatching -DOID:12642 hiatus hernia oboInOwl:hasDbXref OMIM:142400 semapv:UnspecifiedMatching DOID:12642 hiatus hernia oboInOwl:hasDbXref UMLS:C0267725 semapv:UnspecifiedMatching DOID:12642 hiatus hernia oboInOwl:hasDbXref UMLS:C0376710 semapv:UnspecifiedMatching DOID:12642 hiatus hernia oboInOwl:hasDbXref UMLS:C3489393 semapv:UnspecifiedMatching -DOID:12642 hiatus hernia skos:exactMatch OMIM:142400 semapv:UnspecifiedMatching DOID:12657 vestibulocochlear nerve disease oboInOwl:hasDbXref ICD10CM:H93.3 semapv:UnspecifiedMatching DOID:12657 vestibulocochlear nerve disease oboInOwl:hasDbXref ICD9CM:388.5 semapv:UnspecifiedMatching DOID:12657 vestibulocochlear nerve disease oboInOwl:hasDbXref MESH:D000160 semapv:UnspecifiedMatching @@ -21820,9 +11725,7 @@ DOID:12661 tooth ankylosis oboInOwl:hasDbXref GARD:701 semapv:UnspecifiedMatchin DOID:12661 tooth ankylosis oboInOwl:hasDbXref ICD10CM:K03.5 semapv:UnspecifiedMatching DOID:12661 tooth ankylosis oboInOwl:hasDbXref ICD9CM:521.6 semapv:UnspecifiedMatching DOID:12661 tooth ankylosis oboInOwl:hasDbXref MESH:D020254 semapv:UnspecifiedMatching -DOID:12661 tooth ankylosis oboInOwl:hasDbXref OMIM:157950 semapv:UnspecifiedMatching DOID:12661 tooth ankylosis oboInOwl:hasDbXref UMLS:C0155930 semapv:UnspecifiedMatching -DOID:12661 tooth ankylosis skos:exactMatch OMIM:157950 semapv:UnspecifiedMatching DOID:12662 paracoccidioidomycosis oboInOwl:hasDbXref GARD:7323 semapv:UnspecifiedMatching DOID:12662 paracoccidioidomycosis oboInOwl:hasDbXref ICD10CM:B41 semapv:UnspecifiedMatching DOID:12662 paracoccidioidomycosis oboInOwl:hasDbXref ICD9CM:116.1 semapv:UnspecifiedMatching @@ -21884,10 +11787,6 @@ DOID:1270 hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref ICD10CM:I78.0 DOID:1270 hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref ICD9CM:448.0 semapv:UnspecifiedMatching DOID:1270 hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref MESH:D013683 semapv:UnspecifiedMatching DOID:1270 hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref NCI:C35064 semapv:UnspecifiedMatching -DOID:1270 hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref OMIM:187300 semapv:UnspecifiedMatching -DOID:1270 hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref OMIM:600376 semapv:UnspecifiedMatching -DOID:1270 hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref OMIM:601101 semapv:UnspecifiedMatching -DOID:1270 hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref OMIM:615506 semapv:UnspecifiedMatching DOID:1270 hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref ORDO:774 semapv:UnspecifiedMatching DOID:1270 hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref UMLS:C0039445 semapv:UnspecifiedMatching DOID:12700 hyperprolactinemia oboInOwl:hasDbXref ICD10CM:E22.1 semapv:UnspecifiedMatching @@ -21898,10 +11797,8 @@ DOID:12700 hyperprolactinemia oboInOwl:hasDbXref UMLS:C0020514 semapv:Unspecifie DOID:12704 ataxia telangiectasia oboInOwl:hasDbXref GARD:5862 semapv:UnspecifiedMatching DOID:12704 ataxia telangiectasia oboInOwl:hasDbXref MESH:D001260 semapv:UnspecifiedMatching DOID:12704 ataxia telangiectasia oboInOwl:hasDbXref NCI:C2887 semapv:UnspecifiedMatching -DOID:12704 ataxia telangiectasia oboInOwl:hasDbXref OMIM:208900 semapv:UnspecifiedMatching DOID:12704 ataxia telangiectasia oboInOwl:hasDbXref UMLS:C0004135 semapv:UnspecifiedMatching DOID:12704 ataxia telangiectasia skos:exactMatch MESH:D001260 semapv:UnspecifiedMatching -DOID:12704 ataxia telangiectasia skos:exactMatch OMIM:208900 semapv:UnspecifiedMatching DOID:12705 Friedreich ataxia oboInOwl:hasDbXref GARD:6468 semapv:UnspecifiedMatching DOID:12705 Friedreich ataxia oboInOwl:hasDbXref ICD10CM:G11.11 semapv:UnspecifiedMatching DOID:12705 Friedreich ataxia oboInOwl:hasDbXref ICD9CM:334.0 semapv:UnspecifiedMatching @@ -21911,9 +11808,7 @@ DOID:12705 Friedreich ataxia oboInOwl:hasDbXref UMLS:C0016719 semapv:Unspecified DOID:12705 Friedreich ataxia skos:exactMatch MESH:D005621 semapv:UnspecifiedMatching DOID:12707 myoclonic cerebellar dyssynergia oboInOwl:hasDbXref GARD:9256 semapv:UnspecifiedMatching DOID:12707 myoclonic cerebellar dyssynergia oboInOwl:hasDbXref MESH:D002527 semapv:UnspecifiedMatching -DOID:12707 myoclonic cerebellar dyssynergia oboInOwl:hasDbXref OMIM:213400 semapv:UnspecifiedMatching DOID:12707 myoclonic cerebellar dyssynergia oboInOwl:hasDbXref UMLS:C0007761 semapv:UnspecifiedMatching -DOID:12707 myoclonic cerebellar dyssynergia skos:exactMatch OMIM:213400 semapv:UnspecifiedMatching DOID:1271 capillary disease oboInOwl:hasDbXref ICD10CM:I78 semapv:UnspecifiedMatching DOID:1271 capillary disease oboInOwl:hasDbXref ICD9CM:448 semapv:UnspecifiedMatching DOID:1271 capillary disease oboInOwl:hasDbXref UMLS:C0155765 semapv:UnspecifiedMatching @@ -21925,23 +11820,17 @@ DOID:12711 black piedra oboInOwl:hasDbXref UMLS:C0153249 semapv:UnspecifiedMatch DOID:12712 nephronophthisis oboInOwl:hasDbXref GARD:206 semapv:UnspecifiedMatching DOID:12712 nephronophthisis oboInOwl:hasDbXref ICD10CM:Q61.5 semapv:UnspecifiedMatching DOID:12712 nephronophthisis oboInOwl:hasDbXref NCI:C123200 semapv:UnspecifiedMatching -DOID:12712 nephronophthisis oboInOwl:hasDbXref OMIMPS:256100 semapv:UnspecifiedMatching DOID:12712 nephronophthisis oboInOwl:hasDbXref ORDO:655 semapv:UnspecifiedMatching DOID:12712 nephronophthisis oboInOwl:hasDbXref UMLS:C0687120 semapv:UnspecifiedMatching -DOID:12712 nephronophthisis skos:exactMatch OMIMPS:256100 semapv:UnspecifiedMatching DOID:12714 Ellis-Van Creveld syndrome oboInOwl:hasDbXref GARD:1301 semapv:UnspecifiedMatching DOID:12714 Ellis-Van Creveld syndrome oboInOwl:hasDbXref ICD10CM:Q77.6 semapv:UnspecifiedMatching DOID:12714 Ellis-Van Creveld syndrome oboInOwl:hasDbXref ICD9CM:756.55 semapv:UnspecifiedMatching DOID:12714 Ellis-Van Creveld syndrome oboInOwl:hasDbXref MESH:D004613 semapv:UnspecifiedMatching DOID:12714 Ellis-Van Creveld syndrome oboInOwl:hasDbXref NCI:C84684 semapv:UnspecifiedMatching -DOID:12714 Ellis-Van Creveld syndrome oboInOwl:hasDbXref OMIM:225500 semapv:UnspecifiedMatching DOID:12714 Ellis-Van Creveld syndrome oboInOwl:hasDbXref UMLS:C0013903 semapv:UnspecifiedMatching -DOID:12714 Ellis-Van Creveld syndrome skos:exactMatch OMIM:225500 semapv:UnspecifiedMatching DOID:12716 newborn respiratory distress syndrome oboInOwl:hasDbXref ICD10CM:P22.0 semapv:UnspecifiedMatching DOID:12716 newborn respiratory distress syndrome oboInOwl:hasDbXref MESH:D006819 semapv:UnspecifiedMatching -DOID:12716 newborn respiratory distress syndrome oboInOwl:hasDbXref OMIM:267450 semapv:UnspecifiedMatching DOID:12716 newborn respiratory distress syndrome oboInOwl:hasDbXref UMLS:C0020192 semapv:UnspecifiedMatching -DOID:12716 newborn respiratory distress syndrome skos:exactMatch OMIM:267450 semapv:UnspecifiedMatching DOID:12718 chronic gonococcal salpingitis oboInOwl:hasDbXref ICD9CM:098.37 semapv:UnspecifiedMatching DOID:12718 chronic gonococcal salpingitis oboInOwl:hasDbXref UMLS:C0153208 semapv:UnspecifiedMatching DOID:1272 telangiectasis oboInOwl:hasDbXref MESH:D013684 semapv:UnspecifiedMatching @@ -21965,9 +11854,7 @@ DOID:12731 pars planitis oboInOwl:hasDbXref ICD10CM:H30.2 semapv:UnspecifiedMatc DOID:12731 pars planitis oboInOwl:hasDbXref ICD9CM:363.21 semapv:UnspecifiedMatching DOID:12731 pars planitis oboInOwl:hasDbXref MESH:D015868 semapv:UnspecifiedMatching DOID:12731 pars planitis oboInOwl:hasDbXref NCI:C34903 semapv:UnspecifiedMatching -DOID:12731 pars planitis oboInOwl:hasDbXref OMIM:606177 semapv:UnspecifiedMatching DOID:12731 pars planitis oboInOwl:hasDbXref UMLS:C0030593 semapv:UnspecifiedMatching -DOID:12731 pars planitis skos:exactMatch OMIM:606177 semapv:UnspecifiedMatching DOID:12732 intermediate uveitis oboInOwl:hasDbXref MESH:D015867 semapv:UnspecifiedMatching DOID:12732 intermediate uveitis oboInOwl:hasDbXref NCI:C35110 semapv:UnspecifiedMatching DOID:12732 intermediate uveitis oboInOwl:hasDbXref UMLS:C0042166 semapv:UnspecifiedMatching @@ -22006,9 +11893,7 @@ DOID:12783 migraine without aura oboInOwl:hasDbXref ICD10CM:G43.0 semapv:Unspeci DOID:12783 migraine without aura oboInOwl:hasDbXref ICD9CM:346.1 semapv:UnspecifiedMatching DOID:12783 migraine without aura oboInOwl:hasDbXref MESH:D020326 semapv:UnspecifiedMatching DOID:12783 migraine without aura oboInOwl:hasDbXref NCI:C117004 semapv:UnspecifiedMatching -DOID:12783 migraine without aura oboInOwl:hasDbXref OMIM:607501 semapv:UnspecifiedMatching DOID:12783 migraine without aura oboInOwl:hasDbXref UMLS:C0338480 semapv:UnspecifiedMatching -DOID:12783 migraine without aura skos:exactMatch OMIM:607501 semapv:UnspecifiedMatching DOID:12785 diabetic polyneuropathy oboInOwl:hasDbXref ICD9CM:357.2 semapv:UnspecifiedMatching DOID:12785 diabetic polyneuropathy oboInOwl:hasDbXref MESH:D003929 semapv:UnspecifiedMatching DOID:12785 diabetic polyneuropathy oboInOwl:hasDbXref UMLS:C0271680 semapv:UnspecifiedMatching @@ -22025,29 +11910,21 @@ DOID:12798 mucopolysaccharidosis oboInOwl:hasDbXref ICD10CM:E76.3 semapv:Unspeci DOID:12798 mucopolysaccharidosis oboInOwl:hasDbXref ICD9CM:277.5 semapv:UnspecifiedMatching DOID:12798 mucopolysaccharidosis oboInOwl:hasDbXref MESH:D009083 semapv:UnspecifiedMatching DOID:12798 mucopolysaccharidosis oboInOwl:hasDbXref NCI:C61259 semapv:UnspecifiedMatching -DOID:12798 mucopolysaccharidosis oboInOwl:hasDbXref OMIMPS:607014 semapv:UnspecifiedMatching DOID:12798 mucopolysaccharidosis oboInOwl:hasDbXref ORDO:79213 semapv:UnspecifiedMatching DOID:12798 mucopolysaccharidosis oboInOwl:hasDbXref UMLS:C0026703 semapv:UnspecifiedMatching -DOID:12798 mucopolysaccharidosis skos:exactMatch OMIMPS:607014 semapv:UnspecifiedMatching DOID:12799 mucopolysaccharidosis II oboInOwl:hasDbXref GARD:6675 semapv:UnspecifiedMatching DOID:12799 mucopolysaccharidosis II oboInOwl:hasDbXref ICD10CM:E76.1 semapv:UnspecifiedMatching DOID:12799 mucopolysaccharidosis II oboInOwl:hasDbXref MESH:D016532 semapv:UnspecifiedMatching DOID:12799 mucopolysaccharidosis II oboInOwl:hasDbXref NCI:C61260 semapv:UnspecifiedMatching -DOID:12799 mucopolysaccharidosis II oboInOwl:hasDbXref OMIM:309900 semapv:UnspecifiedMatching DOID:12799 mucopolysaccharidosis II oboInOwl:hasDbXref UMLS:C0026705 semapv:UnspecifiedMatching -DOID:12799 mucopolysaccharidosis II skos:exactMatch OMIM:309900 semapv:UnspecifiedMatching DOID:12800 mucopolysaccharidosis VI oboInOwl:hasDbXref GARD:7095 semapv:UnspecifiedMatching DOID:12800 mucopolysaccharidosis VI oboInOwl:hasDbXref MESH:D009087 semapv:UnspecifiedMatching DOID:12800 mucopolysaccharidosis VI oboInOwl:hasDbXref NCI:C61264 semapv:UnspecifiedMatching -DOID:12800 mucopolysaccharidosis VI oboInOwl:hasDbXref OMIM:253200 semapv:UnspecifiedMatching DOID:12800 mucopolysaccharidosis VI oboInOwl:hasDbXref UMLS:C0026709 semapv:UnspecifiedMatching -DOID:12800 mucopolysaccharidosis VI skos:exactMatch OMIM:253200 semapv:UnspecifiedMatching DOID:12801 mucopolysaccharidosis III oboInOwl:hasDbXref MESH:D009084 semapv:UnspecifiedMatching DOID:12801 mucopolysaccharidosis III oboInOwl:hasDbXref NCI:C61262 semapv:UnspecifiedMatching -DOID:12801 mucopolysaccharidosis III oboInOwl:hasDbXref OMIM:252940 semapv:UnspecifiedMatching DOID:12801 mucopolysaccharidosis III oboInOwl:hasDbXref ORDO:581 semapv:UnspecifiedMatching DOID:12801 mucopolysaccharidosis III oboInOwl:hasDbXref UMLS:C0026706 semapv:UnspecifiedMatching -DOID:12801 mucopolysaccharidosis III skos:exactMatch OMIM:252940 semapv:UnspecifiedMatching DOID:12802 mucopolysaccharidosis I oboInOwl:hasDbXref GARD:10335 semapv:UnspecifiedMatching DOID:12802 mucopolysaccharidosis I oboInOwl:hasDbXref ICD10CM:E76.0 semapv:UnspecifiedMatching DOID:12802 mucopolysaccharidosis I oboInOwl:hasDbXref MESH:D008059 semapv:UnspecifiedMatching @@ -22056,9 +11933,7 @@ DOID:12802 mucopolysaccharidosis I oboInOwl:hasDbXref UMLS:C0023786 semapv:Unspe DOID:12803 Sly syndrome oboInOwl:hasDbXref ICD10CM:E76.29 semapv:UnspecifiedMatching DOID:12803 Sly syndrome oboInOwl:hasDbXref MESH:D016538 semapv:UnspecifiedMatching DOID:12803 Sly syndrome oboInOwl:hasDbXref NCI:C84903 semapv:UnspecifiedMatching -DOID:12803 Sly syndrome oboInOwl:hasDbXref OMIM:253220 semapv:UnspecifiedMatching DOID:12803 Sly syndrome oboInOwl:hasDbXref UMLS:C0085132 semapv:UnspecifiedMatching -DOID:12803 Sly syndrome skos:exactMatch OMIM:253220 semapv:UnspecifiedMatching DOID:12804 mucopolysaccharidosis IV oboInOwl:hasDbXref ICD10CM:E76.219 semapv:UnspecifiedMatching DOID:12804 mucopolysaccharidosis IV oboInOwl:hasDbXref MESH:D009085 semapv:UnspecifiedMatching DOID:12804 mucopolysaccharidosis IV oboInOwl:hasDbXref NCI:C61263 semapv:UnspecifiedMatching @@ -22092,18 +11967,14 @@ DOID:12842 Guillain-Barre syndrome oboInOwl:hasDbXref GARD:6554 semapv:Unspecifi DOID:12842 Guillain-Barre syndrome oboInOwl:hasDbXref ICD10CM:G61.0 semapv:UnspecifiedMatching DOID:12842 Guillain-Barre syndrome oboInOwl:hasDbXref MESH:D020275 semapv:UnspecifiedMatching DOID:12842 Guillain-Barre syndrome oboInOwl:hasDbXref NCI:C116345 semapv:UnspecifiedMatching -DOID:12842 Guillain-Barre syndrome oboInOwl:hasDbXref OMIM:139393 semapv:UnspecifiedMatching DOID:12842 Guillain-Barre syndrome oboInOwl:hasDbXref UMLS:C0018378 semapv:UnspecifiedMatching -DOID:12842 Guillain-Barre syndrome skos:exactMatch OMIM:139393 semapv:UnspecifiedMatching DOID:12849 autistic disorder oboInOwl:hasDbXref EFO:0003758 semapv:UnspecifiedMatching DOID:12849 autistic disorder oboInOwl:hasDbXref ICD10CM:F84.0 semapv:UnspecifiedMatching DOID:12849 autistic disorder oboInOwl:hasDbXref ICD9CM:299.0 semapv:UnspecifiedMatching DOID:12849 autistic disorder oboInOwl:hasDbXref MESH:D001321 semapv:UnspecifiedMatching DOID:12849 autistic disorder oboInOwl:hasDbXref NCI:C97161 semapv:UnspecifiedMatching -DOID:12849 autistic disorder oboInOwl:hasDbXref OMIM:209850 semapv:UnspecifiedMatching DOID:12849 autistic disorder oboInOwl:hasDbXref ORDO:106 semapv:UnspecifiedMatching DOID:12849 autistic disorder oboInOwl:hasDbXref UMLS:C0004352 semapv:UnspecifiedMatching -DOID:12849 autistic disorder skos:exactMatch OMIM:209850 semapv:UnspecifiedMatching DOID:1285 rectal disease oboInOwl:hasDbXref MESH:D012002 semapv:UnspecifiedMatching DOID:1285 rectal disease oboInOwl:hasDbXref UMLS:C0034882 semapv:UnspecifiedMatching DOID:12857 Achilles bursitis oboInOwl:hasDbXref ICD10CM:M76.6 semapv:UnspecifiedMatching @@ -22114,12 +11985,8 @@ DOID:12858 Huntington's disease oboInOwl:hasDbXref ICD9CM:333.4 semapv:Unspecifi DOID:12858 Huntington's disease oboInOwl:hasDbXref KEGG:05016 semapv:UnspecifiedMatching DOID:12858 Huntington's disease oboInOwl:hasDbXref MESH:D006816 semapv:UnspecifiedMatching DOID:12858 Huntington's disease oboInOwl:hasDbXref NCI:C82342 semapv:UnspecifiedMatching -DOID:12858 Huntington's disease oboInOwl:hasDbXref OMIM:143100 semapv:UnspecifiedMatching DOID:12858 Huntington's disease oboInOwl:hasDbXref UMLS:C0020179 semapv:UnspecifiedMatching -DOID:12858 Huntington's disease skos:exactMatch OMIM:143100 semapv:UnspecifiedMatching DOID:12859 choreatic disease oboInOwl:hasDbXref ICD10CM:G25.5 semapv:UnspecifiedMatching -DOID:12859 choreatic disease oboInOwl:hasDbXref OMIM:118700 semapv:UnspecifiedMatching -DOID:12859 choreatic disease oboInOwl:hasDbXref OMIM:215450 semapv:UnspecifiedMatching DOID:12859 choreatic disease oboInOwl:hasDbXref ORDO:1429 semapv:UnspecifiedMatching DOID:1287 cardiovascular system disease oboInOwl:hasDbXref ICD9CM:429.2 semapv:UnspecifiedMatching DOID:1287 cardiovascular system disease oboInOwl:hasDbXref MESH:D002318 semapv:UnspecifiedMatching @@ -22146,10 +12013,8 @@ DOID:12894 Sjogren's syndrome oboInOwl:hasDbXref ICD9CM:710.2 semapv:Unspecified DOID:12894 Sjogren's syndrome oboInOwl:hasDbXref MESH:D012859 semapv:UnspecifiedMatching DOID:12894 Sjogren's syndrome oboInOwl:hasDbXref NCI:C26883 semapv:UnspecifiedMatching DOID:12894 Sjogren's syndrome oboInOwl:hasDbXref NCI:C70647 semapv:UnspecifiedMatching -DOID:12894 Sjogren's syndrome oboInOwl:hasDbXref OMIM:270150 semapv:UnspecifiedMatching DOID:12894 Sjogren's syndrome oboInOwl:hasDbXref UMLS:C0086981 semapv:UnspecifiedMatching DOID:12894 Sjogren's syndrome oboInOwl:hasDbXref UMLS:C1527336 semapv:UnspecifiedMatching -DOID:12894 Sjogren's syndrome skos:exactMatch OMIM:270150 semapv:UnspecifiedMatching DOID:12895 keratoconjunctivitis sicca oboInOwl:hasDbXref GARD:8444 semapv:UnspecifiedMatching DOID:12895 keratoconjunctivitis sicca oboInOwl:hasDbXref MESH:D007638 semapv:UnspecifiedMatching DOID:12895 keratoconjunctivitis sicca oboInOwl:hasDbXref UMLS:C0022575 semapv:UnspecifiedMatching @@ -22178,9 +12043,7 @@ DOID:12918 thromboangiitis obliterans oboInOwl:hasDbXref ICD10CM:I73.1 semapv:Un DOID:12918 thromboangiitis obliterans oboInOwl:hasDbXref ICD9CM:443.1 semapv:UnspecifiedMatching DOID:12918 thromboangiitis obliterans oboInOwl:hasDbXref MESH:D013919 semapv:UnspecifiedMatching DOID:12918 thromboangiitis obliterans oboInOwl:hasDbXref NCI:C35070 semapv:UnspecifiedMatching -DOID:12918 thromboangiitis obliterans oboInOwl:hasDbXref OMIM:211480 semapv:UnspecifiedMatching DOID:12918 thromboangiitis obliterans oboInOwl:hasDbXref UMLS:C0040021 semapv:UnspecifiedMatching -DOID:12918 thromboangiitis obliterans skos:exactMatch OMIM:211480 semapv:UnspecifiedMatching DOID:12919 Plasmodium ovale malaria oboInOwl:hasDbXref ICD10CM:B53.0 semapv:UnspecifiedMatching DOID:12919 Plasmodium ovale malaria oboInOwl:hasDbXref ICD9CM:084.3 semapv:UnspecifiedMatching DOID:12919 Plasmodium ovale malaria oboInOwl:hasDbXref UMLS:C0152072 semapv:UnspecifiedMatching @@ -22195,10 +12058,8 @@ DOID:12929 endocardial fibroelastosis oboInOwl:hasDbXref ICD10CM:I42.4 semapv:Un DOID:12929 endocardial fibroelastosis oboInOwl:hasDbXref ICD9CM:425.3 semapv:UnspecifiedMatching DOID:12929 endocardial fibroelastosis oboInOwl:hasDbXref MESH:D004695 semapv:UnspecifiedMatching DOID:12929 endocardial fibroelastosis oboInOwl:hasDbXref NCI:C98922 semapv:UnspecifiedMatching -DOID:12929 endocardial fibroelastosis oboInOwl:hasDbXref OMIM:226000 semapv:UnspecifiedMatching DOID:12929 endocardial fibroelastosis oboInOwl:hasDbXref UMLS:C0014117 semapv:UnspecifiedMatching DOID:12929 endocardial fibroelastosis skos:exactMatch MESH:D004695 semapv:UnspecifiedMatching -DOID:12929 endocardial fibroelastosis skos:exactMatch OMIM:226000 semapv:UnspecifiedMatching DOID:1293 labia minora carcinoma oboInOwl:hasDbXref NCI:C9364 semapv:UnspecifiedMatching DOID:1293 labia minora carcinoma oboInOwl:hasDbXref UMLS:C1334357 semapv:UnspecifiedMatching DOID:12930 dilated cardiomyopathy oboInOwl:hasDbXref EFO:0000407 semapv:UnspecifiedMatching @@ -22207,10 +12068,8 @@ DOID:12930 dilated cardiomyopathy oboInOwl:hasDbXref ICD10CM:I42.0 semapv:Unspec DOID:12930 dilated cardiomyopathy oboInOwl:hasDbXref KEGG:05414 semapv:UnspecifiedMatching DOID:12930 dilated cardiomyopathy oboInOwl:hasDbXref MESH:D002311 semapv:UnspecifiedMatching DOID:12930 dilated cardiomyopathy oboInOwl:hasDbXref NCI:C84673 semapv:UnspecifiedMatching -DOID:12930 dilated cardiomyopathy oboInOwl:hasDbXref OMIMPS:115200 semapv:UnspecifiedMatching DOID:12930 dilated cardiomyopathy oboInOwl:hasDbXref ORDO:217604 semapv:UnspecifiedMatching DOID:12930 dilated cardiomyopathy oboInOwl:hasDbXref UMLS:C0007193 semapv:UnspecifiedMatching -DOID:12930 dilated cardiomyopathy skos:exactMatch OMIMPS:115200 semapv:UnspecifiedMatching DOID:12932 endomyocardial fibrosis oboInOwl:hasDbXref GARD:6340 semapv:UnspecifiedMatching DOID:12932 endomyocardial fibrosis oboInOwl:hasDbXref ICD9CM:425.0 semapv:UnspecifiedMatching DOID:12932 endomyocardial fibrosis oboInOwl:hasDbXref MESH:D004719 semapv:UnspecifiedMatching @@ -22220,9 +12079,7 @@ DOID:12934 Kearns-Sayre syndrome oboInOwl:hasDbXref GARD:6817 semapv:Unspecified DOID:12934 Kearns-Sayre syndrome oboInOwl:hasDbXref ICD10CM:H49.81 semapv:UnspecifiedMatching DOID:12934 Kearns-Sayre syndrome oboInOwl:hasDbXref MESH:D007625 semapv:UnspecifiedMatching DOID:12934 Kearns-Sayre syndrome oboInOwl:hasDbXref NCI:C84798 semapv:UnspecifiedMatching -DOID:12934 Kearns-Sayre syndrome oboInOwl:hasDbXref OMIM:530000 semapv:UnspecifiedMatching DOID:12934 Kearns-Sayre syndrome oboInOwl:hasDbXref UMLS:C0022541 semapv:UnspecifiedMatching -DOID:12934 Kearns-Sayre syndrome skos:exactMatch OMIM:530000 semapv:UnspecifiedMatching DOID:12935 alcoholic cardiomyopathy oboInOwl:hasDbXref ICD10CM:I42.6 semapv:UnspecifiedMatching DOID:12935 alcoholic cardiomyopathy oboInOwl:hasDbXref ICD9CM:425.5 semapv:UnspecifiedMatching DOID:12935 alcoholic cardiomyopathy oboInOwl:hasDbXref MESH:D002310 semapv:UnspecifiedMatching @@ -22241,17 +12098,13 @@ DOID:12959 lagophthalmos oboInOwl:hasDbXref UMLS:C0152226 semapv:UnspecifiedMatc DOID:12960 acrocephalosyndactylia oboInOwl:hasDbXref ICD9CM:755.55 semapv:UnspecifiedMatching DOID:12960 acrocephalosyndactylia oboInOwl:hasDbXref MESH:D000168 semapv:UnspecifiedMatching DOID:12960 acrocephalosyndactylia oboInOwl:hasDbXref NCI:C34348 semapv:UnspecifiedMatching -DOID:12960 acrocephalosyndactylia oboInOwl:hasDbXref OMIM:101200 semapv:UnspecifiedMatching DOID:12960 acrocephalosyndactylia oboInOwl:hasDbXref UMLS:C1510455 semapv:UnspecifiedMatching DOID:12960 acrocephalosyndactylia skos:exactMatch MESH:D000168 semapv:UnspecifiedMatching -DOID:12960 acrocephalosyndactylia skos:exactMatch OMIM:101200 semapv:UnspecifiedMatching DOID:12961 Poland syndrome oboInOwl:hasDbXref GARD:7412 semapv:UnspecifiedMatching DOID:12961 Poland syndrome oboInOwl:hasDbXref ICD10CM:Q79.8 semapv:UnspecifiedMatching DOID:12961 Poland syndrome oboInOwl:hasDbXref MESH:D011045 semapv:UnspecifiedMatching DOID:12961 Poland syndrome oboInOwl:hasDbXref NCI:C85017 semapv:UnspecifiedMatching -DOID:12961 Poland syndrome oboInOwl:hasDbXref OMIM:173800 semapv:UnspecifiedMatching DOID:12961 Poland syndrome oboInOwl:hasDbXref UMLS:C0032357 semapv:UnspecifiedMatching -DOID:12961 Poland syndrome skos:exactMatch OMIM:173800 semapv:UnspecifiedMatching DOID:12969 central nervous system leukemia oboInOwl:hasDbXref NCI:C5440 semapv:UnspecifiedMatching DOID:12969 central nervous system leukemia oboInOwl:hasDbXref UMLS:C1332884 semapv:UnspecifiedMatching DOID:12971 hereditary spherocytosis oboInOwl:hasDbXref GARD:6639 semapv:UnspecifiedMatching @@ -22354,9 +12207,7 @@ DOID:13042 persistent fetal circulation syndrome oboInOwl:hasDbXref ICD10CM:P29. DOID:13042 persistent fetal circulation syndrome oboInOwl:hasDbXref ICD9CM:747.83 semapv:UnspecifiedMatching DOID:13042 persistent fetal circulation syndrome oboInOwl:hasDbXref MESH:D010547 semapv:UnspecifiedMatching DOID:13042 persistent fetal circulation syndrome oboInOwl:hasDbXref NCI:C85006 semapv:UnspecifiedMatching -DOID:13042 persistent fetal circulation syndrome oboInOwl:hasDbXref OMIM:265380 semapv:UnspecifiedMatching DOID:13042 persistent fetal circulation syndrome oboInOwl:hasDbXref UMLS:C0031190 semapv:UnspecifiedMatching -DOID:13042 persistent fetal circulation syndrome skos:exactMatch OMIM:265380 semapv:UnspecifiedMatching DOID:13046 acute sphenoidal sinusitis oboInOwl:hasDbXref ICD10CM:J01.3 semapv:UnspecifiedMatching DOID:13046 acute sphenoidal sinusitis oboInOwl:hasDbXref ICD9CM:461.3 semapv:UnspecifiedMatching DOID:13046 acute sphenoidal sinusitis oboInOwl:hasDbXref UMLS:C0155807 semapv:UnspecifiedMatching @@ -22388,10 +12239,8 @@ DOID:13081 hemangioma of subcutaneous tissue oboInOwl:hasDbXref UMLS:C0685200 se DOID:13087 Lown-Ganong-Levine syndrome oboInOwl:hasDbXref ICD10CM:I45.6 semapv:UnspecifiedMatching DOID:13087 Lown-Ganong-Levine syndrome oboInOwl:hasDbXref ICD9CM:426.81 semapv:UnspecifiedMatching DOID:13087 Lown-Ganong-Levine syndrome oboInOwl:hasDbXref MESH:D008151 semapv:UnspecifiedMatching -DOID:13087 Lown-Ganong-Levine syndrome oboInOwl:hasDbXref OMIM:108950 semapv:UnspecifiedMatching DOID:13087 Lown-Ganong-Levine syndrome oboInOwl:hasDbXref ORDO:844 semapv:UnspecifiedMatching DOID:13087 Lown-Ganong-Levine syndrome oboInOwl:hasDbXref UMLS:C0024054 semapv:UnspecifiedMatching -DOID:13087 Lown-Ganong-Levine syndrome skos:exactMatch OMIM:108950 semapv:UnspecifiedMatching DOID:13088 periventricular leukomalacia oboInOwl:hasDbXref GARD:10285 semapv:UnspecifiedMatching DOID:13088 periventricular leukomalacia oboInOwl:hasDbXref ICD10CM:P91.2 semapv:UnspecifiedMatching DOID:13088 periventricular leukomalacia oboInOwl:hasDbXref ICD9CM:779.7 semapv:UnspecifiedMatching @@ -22409,9 +12258,7 @@ DOID:13095 vertebral artery insufficiency oboInOwl:hasDbXref MESH:D014715 semapv DOID:13095 vertebral artery insufficiency oboInOwl:hasDbXref UMLS:C0042560 semapv:UnspecifiedMatching DOID:13096 Sneddon syndrome oboInOwl:hasDbXref GARD:7664 semapv:UnspecifiedMatching DOID:13096 Sneddon syndrome oboInOwl:hasDbXref MESH:D018860 semapv:UnspecifiedMatching -DOID:13096 Sneddon syndrome oboInOwl:hasDbXref OMIM:182410 semapv:UnspecifiedMatching DOID:13096 Sneddon syndrome oboInOwl:hasDbXref UMLS:C0282492 semapv:UnspecifiedMatching -DOID:13096 Sneddon syndrome skos:exactMatch OMIM:182410 semapv:UnspecifiedMatching DOID:13097 intracranial arteriosclerosis oboInOwl:hasDbXref MESH:D002537 semapv:UnspecifiedMatching DOID:13097 intracranial arteriosclerosis oboInOwl:hasDbXref UMLS:C0007771 semapv:UnspecifiedMatching DOID:13098 central retinal artery occlusion oboInOwl:hasDbXref ICD10CM:H34.1 semapv:UnspecifiedMatching @@ -22424,12 +12271,6 @@ DOID:13099 Moyamoya disease oboInOwl:hasDbXref ICD10CM:I67.5 semapv:UnspecifiedM DOID:13099 Moyamoya disease oboInOwl:hasDbXref ICD9CM:437.5 semapv:UnspecifiedMatching DOID:13099 Moyamoya disease oboInOwl:hasDbXref MESH:D009072 semapv:UnspecifiedMatching DOID:13099 Moyamoya disease oboInOwl:hasDbXref NCI:C84895 semapv:UnspecifiedMatching -DOID:13099 Moyamoya disease oboInOwl:hasDbXref OMIM:252350 semapv:UnspecifiedMatching -DOID:13099 Moyamoya disease oboInOwl:hasDbXref OMIM:300845 semapv:UnspecifiedMatching -DOID:13099 Moyamoya disease oboInOwl:hasDbXref OMIM:607151 semapv:UnspecifiedMatching -DOID:13099 Moyamoya disease oboInOwl:hasDbXref OMIM:608796 semapv:UnspecifiedMatching -DOID:13099 Moyamoya disease oboInOwl:hasDbXref OMIM:614042 semapv:UnspecifiedMatching -DOID:13099 Moyamoya disease oboInOwl:hasDbXref OMIM:615750 semapv:UnspecifiedMatching DOID:13099 Moyamoya disease oboInOwl:hasDbXref ORDO:2573 semapv:UnspecifiedMatching DOID:13099 Moyamoya disease oboInOwl:hasDbXref ORDO:280679 semapv:UnspecifiedMatching DOID:13099 Moyamoya disease oboInOwl:hasDbXref ORDO:401945 semapv:UnspecifiedMatching @@ -22453,9 +12294,7 @@ DOID:1312 focal segmental glomerulosclerosis oboInOwl:hasDbXref EFO:0004236 sema DOID:1312 focal segmental glomerulosclerosis oboInOwl:hasDbXref GARD:6517 semapv:UnspecifiedMatching DOID:1312 focal segmental glomerulosclerosis oboInOwl:hasDbXref MESH:D005923 semapv:UnspecifiedMatching DOID:1312 focal segmental glomerulosclerosis oboInOwl:hasDbXref NCI:C37308 semapv:UnspecifiedMatching -DOID:1312 focal segmental glomerulosclerosis oboInOwl:hasDbXref OMIMPS:603278 semapv:UnspecifiedMatching DOID:1312 focal segmental glomerulosclerosis oboInOwl:hasDbXref UMLS:C0017668 semapv:UnspecifiedMatching -DOID:1312 focal segmental glomerulosclerosis skos:exactMatch OMIMPS:603278 semapv:UnspecifiedMatching 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 @@ -22480,9 +12319,7 @@ DOID:13137 Werdnig-Hoffmann disease oboInOwl:hasDbXref ICD10CM:G12.0 semapv:Unsp DOID:13137 Werdnig-Hoffmann disease oboInOwl:hasDbXref ICD9CM:335.0 semapv:UnspecifiedMatching DOID:13137 Werdnig-Hoffmann disease oboInOwl:hasDbXref MESH:D014897 semapv:UnspecifiedMatching DOID:13137 Werdnig-Hoffmann disease oboInOwl:hasDbXref NCI:C98670 semapv:UnspecifiedMatching -DOID:13137 Werdnig-Hoffmann disease oboInOwl:hasDbXref OMIM:253300 semapv:UnspecifiedMatching DOID:13137 Werdnig-Hoffmann disease oboInOwl:hasDbXref UMLS:C0043116 semapv:UnspecifiedMatching -DOID:13137 Werdnig-Hoffmann disease skos:exactMatch OMIM:253300 semapv:UnspecifiedMatching DOID:13138 acute proliferative glomerulonephritis oboInOwl:hasDbXref ICD9CM:580.0 semapv:UnspecifiedMatching DOID:13138 acute proliferative glomerulonephritis oboInOwl:hasDbXref UMLS:C0341692 semapv:UnspecifiedMatching DOID:13139 crescentic glomerulonephritis oboInOwl:hasDbXref NCI:C128143 semapv:UnspecifiedMatching @@ -22517,9 +12354,7 @@ DOID:13166 allergic bronchopulmonary aspergillosis oboInOwl:hasDbXref ICD10CM:B4 DOID:13166 allergic bronchopulmonary aspergillosis oboInOwl:hasDbXref ICD9CM:518.6 semapv:UnspecifiedMatching DOID:13166 allergic bronchopulmonary aspergillosis oboInOwl:hasDbXref MESH:D001229 semapv:UnspecifiedMatching DOID:13166 allergic bronchopulmonary aspergillosis oboInOwl:hasDbXref NCI:C84547 semapv:UnspecifiedMatching -DOID:13166 allergic bronchopulmonary aspergillosis oboInOwl:hasDbXref OMIM:103920 semapv:UnspecifiedMatching DOID:13166 allergic bronchopulmonary aspergillosis oboInOwl:hasDbXref UMLS:C0004031 semapv:UnspecifiedMatching -DOID:13166 allergic bronchopulmonary aspergillosis skos:exactMatch OMIM:103920 semapv:UnspecifiedMatching DOID:13168 prepuce cancer oboInOwl:hasDbXref ICD10CM:C60.0 semapv:UnspecifiedMatching DOID:13168 prepuce cancer oboInOwl:hasDbXref ICD9CM:187.1 semapv:UnspecifiedMatching DOID:13168 prepuce cancer oboInOwl:hasDbXref UMLS:C0153598 semapv:UnspecifiedMatching @@ -22597,9 +12432,7 @@ DOID:13223 uterine fibroid oboInOwl:hasDbXref ICD10CM:D25 semapv:UnspecifiedMatc DOID:13223 uterine fibroid oboInOwl:hasDbXref ICD9CM:218 semapv:UnspecifiedMatching DOID:13223 uterine fibroid oboInOwl:hasDbXref MESH:D007889 semapv:UnspecifiedMatching DOID:13223 uterine fibroid oboInOwl:hasDbXref NCI:C3434 semapv:UnspecifiedMatching -DOID:13223 uterine fibroid oboInOwl:hasDbXref OMIM:150699 semapv:UnspecifiedMatching DOID:13223 uterine fibroid oboInOwl:hasDbXref UMLS:C0042133 semapv:UnspecifiedMatching -DOID:13223 uterine fibroid skos:exactMatch OMIM:150699 semapv:UnspecifiedMatching DOID:13226 oculoglandular tularemia oboInOwl:hasDbXref ICD10CM:A21.1 semapv:UnspecifiedMatching DOID:13226 oculoglandular tularemia oboInOwl:hasDbXref ICD9CM:021.3 semapv:UnspecifiedMatching DOID:13226 oculoglandular tularemia oboInOwl:hasDbXref UMLS:C0152944 semapv:UnspecifiedMatching @@ -22617,11 +12450,6 @@ DOID:1324 lung cancer oboInOwl:hasDbXref ICD9CM:162.3 semapv:UnspecifiedMatching DOID:1324 lung cancer oboInOwl:hasDbXref ICD9CM:162.4 semapv:UnspecifiedMatching DOID:1324 lung cancer oboInOwl:hasDbXref ICD9CM:162.5 semapv:UnspecifiedMatching DOID:1324 lung cancer oboInOwl:hasDbXref ICD9CM:162.8 semapv:UnspecifiedMatching -DOID:1324 lung cancer oboInOwl:hasDbXref OMIM:211980 semapv:UnspecifiedMatching -DOID:1324 lung cancer oboInOwl:hasDbXref OMIM:608935 semapv:UnspecifiedMatching -DOID:1324 lung cancer oboInOwl:hasDbXref OMIM:612571 semapv:UnspecifiedMatching -DOID:1324 lung cancer oboInOwl:hasDbXref OMIM:612593 semapv:UnspecifiedMatching -DOID:1324 lung cancer oboInOwl:hasDbXref OMIM:614210 semapv:UnspecifiedMatching DOID:1324 lung cancer oboInOwl:hasDbXref UMLS:C0024624 semapv:UnspecifiedMatching DOID:1324 lung cancer oboInOwl:hasDbXref UMLS:C0153491 semapv:UnspecifiedMatching DOID:1324 lung cancer oboInOwl:hasDbXref UMLS:C0153492 semapv:UnspecifiedMatching @@ -22637,9 +12465,7 @@ DOID:13241 Behcet's disease oboInOwl:hasDbXref ICD10CM:M35.2 semapv:UnspecifiedM DOID:13241 Behcet's disease oboInOwl:hasDbXref ICD9CM:136.1 semapv:UnspecifiedMatching DOID:13241 Behcet's disease oboInOwl:hasDbXref MESH:D001528 semapv:UnspecifiedMatching DOID:13241 Behcet's disease oboInOwl:hasDbXref NCI:C34416 semapv:UnspecifiedMatching -DOID:13241 Behcet's disease oboInOwl:hasDbXref OMIM:109650 semapv:UnspecifiedMatching DOID:13241 Behcet's disease oboInOwl:hasDbXref UMLS:C0004943 semapv:UnspecifiedMatching -DOID:13241 Behcet's disease skos:exactMatch OMIM:109650 semapv:UnspecifiedMatching DOID:13248 mucocele of appendix oboInOwl:hasDbXref NCI:C3241 semapv:UnspecifiedMatching DOID:13248 mucocele of appendix oboInOwl:hasDbXref UMLS:C0026684 semapv:UnspecifiedMatching DOID:13249 pneumatosis cystoides intestinalis oboInOwl:hasDbXref MESH:D011006 semapv:UnspecifiedMatching @@ -22670,24 +12496,18 @@ DOID:13269 hereditary coproporphyria oboInOwl:hasDbXref GARD:6619 semapv:Unspeci DOID:13269 hereditary coproporphyria oboInOwl:hasDbXref ICD10CM:E80.29 semapv:UnspecifiedMatching DOID:13269 hereditary coproporphyria oboInOwl:hasDbXref MESH:D046349 semapv:UnspecifiedMatching DOID:13269 hereditary coproporphyria oboInOwl:hasDbXref NCI:C84759 semapv:UnspecifiedMatching -DOID:13269 hereditary coproporphyria oboInOwl:hasDbXref OMIM:121300 semapv:UnspecifiedMatching DOID:13269 hereditary coproporphyria oboInOwl:hasDbXref UMLS:C0162531 semapv:UnspecifiedMatching -DOID:13269 hereditary coproporphyria skos:exactMatch OMIM:121300 semapv:UnspecifiedMatching DOID:13270 erythropoietic protoporphyria oboInOwl:hasDbXref GARD:4527 semapv:UnspecifiedMatching DOID:13270 erythropoietic protoporphyria oboInOwl:hasDbXref ICD10CM:E80.0 semapv:UnspecifiedMatching DOID:13270 erythropoietic protoporphyria oboInOwl:hasDbXref MESH:D046351 semapv:UnspecifiedMatching DOID:13270 erythropoietic protoporphyria oboInOwl:hasDbXref NCI:C84698 semapv:UnspecifiedMatching -DOID:13270 erythropoietic protoporphyria oboInOwl:hasDbXref OMIM:177000 semapv:UnspecifiedMatching -DOID:13270 erythropoietic protoporphyria oboInOwl:hasDbXref OMIM:300752 semapv:UnspecifiedMatching DOID:13270 erythropoietic protoporphyria oboInOwl:hasDbXref ORDO:79278 semapv:UnspecifiedMatching DOID:13270 erythropoietic protoporphyria oboInOwl:hasDbXref UMLS:C0162568 semapv:UnspecifiedMatching DOID:13271 cutaneous porphyria oboInOwl:hasDbXref GARD:4446 semapv:UnspecifiedMatching DOID:13271 cutaneous porphyria oboInOwl:hasDbXref ICD10CM:E80.0 semapv:UnspecifiedMatching DOID:13271 cutaneous porphyria oboInOwl:hasDbXref MESH:D017092 semapv:UnspecifiedMatching DOID:13271 cutaneous porphyria oboInOwl:hasDbXref NCI:C84697 semapv:UnspecifiedMatching -DOID:13271 cutaneous porphyria oboInOwl:hasDbXref OMIM:263700 semapv:UnspecifiedMatching DOID:13271 cutaneous porphyria oboInOwl:hasDbXref UMLS:C0162530 semapv:UnspecifiedMatching -DOID:13271 cutaneous porphyria skos:exactMatch OMIM:263700 semapv:UnspecifiedMatching DOID:13272 Klebsiella pneumonia oboInOwl:hasDbXref ICD10CM:J15.0 semapv:UnspecifiedMatching DOID:13272 Klebsiella pneumonia oboInOwl:hasDbXref ICD9CM:482.0 semapv:UnspecifiedMatching DOID:13272 Klebsiella pneumonia oboInOwl:hasDbXref MESH:D007710 semapv:UnspecifiedMatching @@ -22709,9 +12529,7 @@ DOID:13300 Scheuermann's disease oboInOwl:hasDbXref ICD10CM:M42.0 semapv:Unspeci DOID:13300 Scheuermann's disease oboInOwl:hasDbXref ICD9CM:732.0 semapv:UnspecifiedMatching DOID:13300 Scheuermann's disease oboInOwl:hasDbXref MESH:D012544 semapv:UnspecifiedMatching DOID:13300 Scheuermann's disease oboInOwl:hasDbXref NCI:C34999 semapv:UnspecifiedMatching -DOID:13300 Scheuermann's disease oboInOwl:hasDbXref OMIM:181440 semapv:UnspecifiedMatching DOID:13300 Scheuermann's disease oboInOwl:hasDbXref UMLS:C0036310 semapv:UnspecifiedMatching -DOID:13300 Scheuermann's disease skos:exactMatch OMIM:181440 semapv:UnspecifiedMatching DOID:13306 diphtheritic cystitis oboInOwl:hasDbXref ICD10CM:A36.85 semapv:UnspecifiedMatching DOID:13306 diphtheritic cystitis oboInOwl:hasDbXref ICD9CM:032.84 semapv:UnspecifiedMatching DOID:13306 diphtheritic cystitis oboInOwl:hasDbXref UMLS:C0152954 semapv:UnspecifiedMatching @@ -22727,9 +12545,7 @@ DOID:13316 exocrine pancreatic insufficiency oboInOwl:hasDbXref UMLS:C0267963 se DOID:13317 hyperinsulinemic hypoglycemia oboInOwl:hasDbXref ICD10CM:E16.9 semapv:UnspecifiedMatching DOID:13317 hyperinsulinemic hypoglycemia oboInOwl:hasDbXref MESH:D046768 semapv:UnspecifiedMatching DOID:13317 hyperinsulinemic hypoglycemia oboInOwl:hasDbXref NCI:C4375 semapv:UnspecifiedMatching -DOID:13317 hyperinsulinemic hypoglycemia oboInOwl:hasDbXref OMIMPS:256450 semapv:UnspecifiedMatching DOID:13317 hyperinsulinemic hypoglycemia oboInOwl:hasDbXref UMLS:C0027773 semapv:UnspecifiedMatching -DOID:13317 hyperinsulinemic hypoglycemia skos:exactMatch OMIMPS:256450 semapv:UnspecifiedMatching DOID:13326 chronic follicular conjunctivitis oboInOwl:hasDbXref ICD10CM:H10.43 semapv:UnspecifiedMatching DOID:13326 chronic follicular conjunctivitis oboInOwl:hasDbXref ICD9CM:372.12 semapv:UnspecifiedMatching DOID:13326 chronic follicular conjunctivitis oboInOwl:hasDbXref UMLS:C0155147 semapv:UnspecifiedMatching @@ -22770,17 +12586,13 @@ DOID:13356 senile ectropion oboInOwl:hasDbXref UMLS:C0155193 semapv:UnspecifiedM DOID:13357 chondromalacia patellae oboInOwl:hasDbXref ICD10CM:M22.4 semapv:UnspecifiedMatching DOID:13357 chondromalacia patellae oboInOwl:hasDbXref ICD9CM:717.7 semapv:UnspecifiedMatching DOID:13357 chondromalacia patellae oboInOwl:hasDbXref MESH:D046789 semapv:UnspecifiedMatching -DOID:13357 chondromalacia patellae oboInOwl:hasDbXref OMIM:168900 semapv:UnspecifiedMatching DOID:13357 chondromalacia patellae oboInOwl:hasDbXref UMLS:C0008475 semapv:UnspecifiedMatching -DOID:13357 chondromalacia patellae skos:exactMatch OMIM:168900 semapv:UnspecifiedMatching DOID:13359 Ehlers-Danlos syndrome oboInOwl:hasDbXref GARD:6322 semapv:UnspecifiedMatching DOID:13359 Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10CM:Q79.6 semapv:UnspecifiedMatching DOID:13359 Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD9CM:756.83 semapv:UnspecifiedMatching DOID:13359 Ehlers-Danlos syndrome oboInOwl:hasDbXref MESH:D004535 semapv:UnspecifiedMatching DOID:13359 Ehlers-Danlos syndrome oboInOwl:hasDbXref NCI:C34568 semapv:UnspecifiedMatching -DOID:13359 Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIMPS:130000 semapv:UnspecifiedMatching DOID:13359 Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS:C0013720 semapv:UnspecifiedMatching -DOID:13359 Ehlers-Danlos syndrome skos:exactMatch OMIMPS:130000 semapv:UnspecifiedMatching DOID:13364 obsolete chronobiology disease oboInOwl:hasDbXref MESH:D021081 semapv:UnspecifiedMatching DOID:13364 obsolete chronobiology disease oboInOwl:hasDbXref UMLS:C0236811 semapv:UnspecifiedMatching DOID:13365 reading disorder oboInOwl:hasDbXref ICD9CM:315.09 semapv:UnspecifiedMatching @@ -22790,9 +12602,7 @@ DOID:13366 Stiff-Person syndrome oboInOwl:hasDbXref ICD10CM:G25.82 semapv:Unspec DOID:13366 Stiff-Person syndrome oboInOwl:hasDbXref ICD9CM:333.91 semapv:UnspecifiedMatching DOID:13366 Stiff-Person syndrome oboInOwl:hasDbXref MESH:D016750 semapv:UnspecifiedMatching DOID:13366 Stiff-Person syndrome oboInOwl:hasDbXref NCI:C85170 semapv:UnspecifiedMatching -DOID:13366 Stiff-Person syndrome oboInOwl:hasDbXref OMIM:184850 semapv:UnspecifiedMatching DOID:13366 Stiff-Person syndrome oboInOwl:hasDbXref UMLS:C0085292 semapv:UnspecifiedMatching -DOID:13366 Stiff-Person syndrome skos:exactMatch OMIM:184850 semapv:UnspecifiedMatching DOID:13368 tinea profunda oboInOwl:hasDbXref UMLS:C1279621 semapv:UnspecifiedMatching DOID:13369 tinea manuum oboInOwl:hasDbXref ICD10CM:B35.2 semapv:UnspecifiedMatching DOID:13369 tinea manuum oboInOwl:hasDbXref ICD9CM:110.2 semapv:UnspecifiedMatching @@ -22807,56 +12617,42 @@ DOID:13372 alpha 1-antitrypsin deficiency oboInOwl:hasDbXref ICD10CM:E88.01 sema DOID:13372 alpha 1-antitrypsin deficiency oboInOwl:hasDbXref ICD9CM:273.4 semapv:UnspecifiedMatching DOID:13372 alpha 1-antitrypsin deficiency oboInOwl:hasDbXref MESH:D019896 semapv:UnspecifiedMatching DOID:13372 alpha 1-antitrypsin deficiency oboInOwl:hasDbXref NCI:C84397 semapv:UnspecifiedMatching -DOID:13372 alpha 1-antitrypsin deficiency oboInOwl:hasDbXref OMIM:613490 semapv:UnspecifiedMatching DOID:13372 alpha 1-antitrypsin deficiency oboInOwl:hasDbXref UMLS:C0221757 semapv:UnspecifiedMatching DOID:13372 alpha 1-antitrypsin deficiency skos:exactMatch MESH:D019896 semapv:UnspecifiedMatching -DOID:13372 alpha 1-antitrypsin deficiency skos:exactMatch OMIM:613490 semapv:UnspecifiedMatching DOID:13374 fibrodysplasia ossificans progressiva oboInOwl:hasDbXref GARD:6445 semapv:UnspecifiedMatching DOID:13374 fibrodysplasia ossificans progressiva oboInOwl:hasDbXref ICD10CM:M61.1 semapv:UnspecifiedMatching DOID:13374 fibrodysplasia ossificans progressiva oboInOwl:hasDbXref ICD9CM:728.11 semapv:UnspecifiedMatching DOID:13374 fibrodysplasia ossificans progressiva oboInOwl:hasDbXref MESH:D009221 semapv:UnspecifiedMatching DOID:13374 fibrodysplasia ossificans progressiva oboInOwl:hasDbXref NCI:C3040 semapv:UnspecifiedMatching -DOID:13374 fibrodysplasia ossificans progressiva oboInOwl:hasDbXref OMIM:135100 semapv:UnspecifiedMatching DOID:13374 fibrodysplasia ossificans progressiva oboInOwl:hasDbXref ORDO:337 semapv:UnspecifiedMatching DOID:13374 fibrodysplasia ossificans progressiva oboInOwl:hasDbXref UMLS:C0016037 semapv:UnspecifiedMatching -DOID:13374 fibrodysplasia ossificans progressiva skos:exactMatch OMIM:135100 semapv:UnspecifiedMatching DOID:13375 temporal arteritis oboInOwl:hasDbXref ICD9CM:446.5 semapv:UnspecifiedMatching DOID:13375 temporal arteritis oboInOwl:hasDbXref MESH:D013700 semapv:UnspecifiedMatching DOID:13375 temporal arteritis oboInOwl:hasDbXref NCI:C35065 semapv:UnspecifiedMatching -DOID:13375 temporal arteritis oboInOwl:hasDbXref OMIM:187360 semapv:UnspecifiedMatching DOID:13375 temporal arteritis oboInOwl:hasDbXref ORDO:397 semapv:UnspecifiedMatching DOID:13375 temporal arteritis oboInOwl:hasDbXref UMLS:C0039483 semapv:UnspecifiedMatching -DOID:13375 temporal arteritis skos:exactMatch OMIM:187360 semapv:UnspecifiedMatching DOID:13378 Kawasaki disease oboInOwl:hasDbXref EFO:0004246 semapv:UnspecifiedMatching DOID:13378 Kawasaki disease oboInOwl:hasDbXref GARD:6816 semapv:UnspecifiedMatching DOID:13378 Kawasaki disease oboInOwl:hasDbXref ICD10CM:M30.3 semapv:UnspecifiedMatching DOID:13378 Kawasaki disease oboInOwl:hasDbXref ICD9CM:446.1 semapv:UnspecifiedMatching DOID:13378 Kawasaki disease oboInOwl:hasDbXref MESH:D009080 semapv:UnspecifiedMatching DOID:13378 Kawasaki disease oboInOwl:hasDbXref NCI:C34825 semapv:UnspecifiedMatching -DOID:13378 Kawasaki disease oboInOwl:hasDbXref OMIM:611775 semapv:UnspecifiedMatching DOID:13378 Kawasaki disease oboInOwl:hasDbXref UMLS:C0026691 semapv:UnspecifiedMatching -DOID:13378 Kawasaki disease skos:exactMatch OMIM:611775 semapv:UnspecifiedMatching DOID:1338 congenital dyserythropoietic anemia oboInOwl:hasDbXref GARD:1999 semapv:UnspecifiedMatching DOID:1338 congenital dyserythropoietic anemia oboInOwl:hasDbXref ICD10CM:D64.4 semapv:UnspecifiedMatching DOID:1338 congenital dyserythropoietic anemia oboInOwl:hasDbXref MESH:D000742 semapv:UnspecifiedMatching DOID:1338 congenital dyserythropoietic anemia oboInOwl:hasDbXref NCI:C84646 semapv:UnspecifiedMatching -DOID:1338 congenital dyserythropoietic anemia oboInOwl:hasDbXref OMIMPS:224120 semapv:UnspecifiedMatching DOID:1338 congenital dyserythropoietic anemia oboInOwl:hasDbXref ORDO:85 semapv:UnspecifiedMatching DOID:1338 congenital dyserythropoietic anemia oboInOwl:hasDbXref UMLS:C0002876 semapv:UnspecifiedMatching -DOID:1338 congenital dyserythropoietic anemia skos:exactMatch OMIMPS:224120 semapv:UnspecifiedMatching DOID:13381 pernicious anemia oboInOwl:hasDbXref GARD:12671 semapv:UnspecifiedMatching DOID:13381 pernicious anemia oboInOwl:hasDbXref ICD10CM:D51.0 semapv:UnspecifiedMatching DOID:13381 pernicious anemia oboInOwl:hasDbXref ICD9CM:281.0 semapv:UnspecifiedMatching DOID:13381 pernicious anemia oboInOwl:hasDbXref MESH:D000752 semapv:UnspecifiedMatching DOID:13381 pernicious anemia oboInOwl:hasDbXref NCI:C2871 semapv:UnspecifiedMatching -DOID:13381 pernicious anemia oboInOwl:hasDbXref OMIM:170900 semapv:UnspecifiedMatching DOID:13381 pernicious anemia oboInOwl:hasDbXref UMLS:C0002892 semapv:UnspecifiedMatching -DOID:13381 pernicious anemia skos:exactMatch OMIM:170900 semapv:UnspecifiedMatching DOID:13382 megaloblastic anemia oboInOwl:hasDbXref ICD10CM:D53.1 semapv:UnspecifiedMatching DOID:13382 megaloblastic anemia oboInOwl:hasDbXref MESH:D000749 semapv:UnspecifiedMatching DOID:13382 megaloblastic anemia oboInOwl:hasDbXref NCI:C34382 semapv:UnspecifiedMatching -DOID:13382 megaloblastic anemia oboInOwl:hasDbXref OMIM:261100 semapv:UnspecifiedMatching -DOID:13382 megaloblastic anemia oboInOwl:hasDbXref OMIM:613839 semapv:UnspecifiedMatching DOID:13382 megaloblastic anemia oboInOwl:hasDbXref UMLS:C0002888 semapv:UnspecifiedMatching DOID:13386 gastrointestinal anthrax oboInOwl:hasDbXref ICD10CM:A22.2 semapv:UnspecifiedMatching DOID:13386 gastrointestinal anthrax oboInOwl:hasDbXref ICD9CM:022.2 semapv:UnspecifiedMatching @@ -22868,9 +12664,7 @@ DOID:1339 Diamond-Blackfan anemia oboInOwl:hasDbXref GARD:6274 semapv:Unspecifie DOID:1339 Diamond-Blackfan anemia oboInOwl:hasDbXref ICD10CM:D61.01 semapv:UnspecifiedMatching DOID:1339 Diamond-Blackfan anemia oboInOwl:hasDbXref MESH:D029503 semapv:UnspecifiedMatching DOID:1339 Diamond-Blackfan anemia oboInOwl:hasDbXref NCI:C61236 semapv:UnspecifiedMatching -DOID:1339 Diamond-Blackfan anemia oboInOwl:hasDbXref OMIMPS:105650 semapv:UnspecifiedMatching DOID:1339 Diamond-Blackfan anemia oboInOwl:hasDbXref ORDO:124 semapv:UnspecifiedMatching -DOID:1339 Diamond-Blackfan anemia skos:exactMatch OMIMPS:105650 semapv:UnspecifiedMatching DOID:13399 color blindness oboInOwl:hasDbXref ICD10CM:H53.5 semapv:UnspecifiedMatching DOID:13399 color blindness oboInOwl:hasDbXref ICD9CM:368.5 semapv:UnspecifiedMatching DOID:13399 color blindness oboInOwl:hasDbXref MESH:D003117 semapv:UnspecifiedMatching @@ -22883,9 +12677,7 @@ DOID:1340 pure red-cell aplasia oboInOwl:hasDbXref MESH:D012010 semapv:Unspecifi DOID:1340 pure red-cell aplasia oboInOwl:hasDbXref NCI:C34974 semapv:UnspecifiedMatching DOID:1340 pure red-cell aplasia oboInOwl:hasDbXref UMLS:C0034902 semapv:UnspecifiedMatching DOID:13401 angioid streaks oboInOwl:hasDbXref MESH:D000793 semapv:UnspecifiedMatching -DOID:13401 angioid streaks oboInOwl:hasDbXref OMIM:607140 semapv:UnspecifiedMatching DOID:13401 angioid streaks oboInOwl:hasDbXref UMLS:C0002982 semapv:UnspecifiedMatching -DOID:13401 angioid streaks skos:exactMatch OMIM:607140 semapv:UnspecifiedMatching DOID:13402 skin sarcoidosis oboInOwl:hasDbXref ICD10CM:D86.3 semapv:UnspecifiedMatching DOID:13402 skin sarcoidosis oboInOwl:hasDbXref NCI:C34996 semapv:UnspecifiedMatching DOID:13402 skin sarcoidosis oboInOwl:hasDbXref UMLS:C0036203 semapv:UnspecifiedMatching @@ -22988,9 +12780,6 @@ DOID:13481 thanatophoric dysplasia oboInOwl:hasDbXref GARD:85 semapv:Unspecified DOID:13481 thanatophoric dysplasia oboInOwl:hasDbXref ICD10CM:Q77.1 semapv:UnspecifiedMatching DOID:13481 thanatophoric dysplasia oboInOwl:hasDbXref MESH:D013796 semapv:UnspecifiedMatching DOID:13481 thanatophoric dysplasia oboInOwl:hasDbXref NCI:C85187 semapv:UnspecifiedMatching -DOID:13481 thanatophoric dysplasia oboInOwl:hasDbXref OMIM:187600 semapv:UnspecifiedMatching -DOID:13481 thanatophoric dysplasia oboInOwl:hasDbXref OMIM:187601 semapv:UnspecifiedMatching -DOID:13481 thanatophoric dysplasia oboInOwl:hasDbXref OMIM:273680 semapv:UnspecifiedMatching DOID:13481 thanatophoric dysplasia oboInOwl:hasDbXref ORDO:1860 semapv:UnspecifiedMatching DOID:13481 thanatophoric dysplasia oboInOwl:hasDbXref ORDO:2655 semapv:UnspecifiedMatching DOID:13481 thanatophoric dysplasia oboInOwl:hasDbXref ORDO:93274 semapv:UnspecifiedMatching @@ -23000,9 +12789,7 @@ DOID:13481 thanatophoric dysplasia skos:exactMatch MESH:D013796 semapv:Unspecifi DOID:13482 Proteus syndrome oboInOwl:hasDbXref GARD:7475 semapv:UnspecifiedMatching DOID:13482 Proteus syndrome oboInOwl:hasDbXref MESH:D016715 semapv:UnspecifiedMatching DOID:13482 Proteus syndrome oboInOwl:hasDbXref NCI:C85032 semapv:UnspecifiedMatching -DOID:13482 Proteus syndrome oboInOwl:hasDbXref OMIM:176920 semapv:UnspecifiedMatching DOID:13482 Proteus syndrome oboInOwl:hasDbXref UMLS:C0085261 semapv:UnspecifiedMatching -DOID:13482 Proteus syndrome skos:exactMatch OMIM:176920 semapv:UnspecifiedMatching DOID:13487 childhood disintegrative disease oboInOwl:hasDbXref GARD:6040 semapv:UnspecifiedMatching DOID:13487 childhood disintegrative disease oboInOwl:hasDbXref ICD10CM:F84.3 semapv:UnspecifiedMatching DOID:13487 childhood disintegrative disease oboInOwl:hasDbXref ICD9CM:299.1 semapv:UnspecifiedMatching @@ -23034,9 +12821,7 @@ DOID:13501 Moebius syndrome oboInOwl:hasDbXref GARD:8549 semapv:UnspecifiedMatch DOID:13501 Moebius syndrome oboInOwl:hasDbXref ICD10CM:Q87.0 semapv:UnspecifiedMatching DOID:13501 Moebius syndrome oboInOwl:hasDbXref MESH:D020331 semapv:UnspecifiedMatching DOID:13501 Moebius syndrome oboInOwl:hasDbXref NCI:C84893 semapv:UnspecifiedMatching -DOID:13501 Moebius syndrome oboInOwl:hasDbXref OMIM:157900 semapv:UnspecifiedMatching DOID:13501 Moebius syndrome oboInOwl:hasDbXref UMLS:C0221060 semapv:UnspecifiedMatching -DOID:13501 Moebius syndrome skos:exactMatch OMIM:157900 semapv:UnspecifiedMatching DOID:13507 trigonitis oboInOwl:hasDbXref ICD10CM:N30.3 semapv:UnspecifiedMatching DOID:13507 trigonitis oboInOwl:hasDbXref ICD9CM:595.3 semapv:UnspecifiedMatching DOID:13507 trigonitis oboInOwl:hasDbXref NCI:C123175 semapv:UnspecifiedMatching @@ -23048,9 +12833,7 @@ DOID:13515 tuberous sclerosis oboInOwl:hasDbXref ICD10CM:Q85.1 semapv:Unspecifie DOID:13515 tuberous sclerosis oboInOwl:hasDbXref ICD9CM:759.5 semapv:UnspecifiedMatching DOID:13515 tuberous sclerosis oboInOwl:hasDbXref MESH:D014402 semapv:UnspecifiedMatching DOID:13515 tuberous sclerosis oboInOwl:hasDbXref NCI:C3424 semapv:UnspecifiedMatching -DOID:13515 tuberous sclerosis oboInOwl:hasDbXref OMIMPS:191100 semapv:UnspecifiedMatching DOID:13515 tuberous sclerosis oboInOwl:hasDbXref UMLS:C0041341 semapv:UnspecifiedMatching -DOID:13515 tuberous sclerosis skos:exactMatch OMIMPS:191100 semapv:UnspecifiedMatching DOID:1352 paranasal sinus disease oboInOwl:hasDbXref MESH:D010254 semapv:UnspecifiedMatching DOID:1352 paranasal sinus disease oboInOwl:hasDbXref NCI:C26843 semapv:UnspecifiedMatching DOID:1352 paranasal sinus disease oboInOwl:hasDbXref UMLS:C0030469 semapv:UnspecifiedMatching @@ -23072,8 +12855,6 @@ DOID:13533 osteopetrosis oboInOwl:hasDbXref ICD10CM:Q78.2 semapv:UnspecifiedMatc DOID:13533 osteopetrosis oboInOwl:hasDbXref ICD9CM:756.52 semapv:UnspecifiedMatching DOID:13533 osteopetrosis oboInOwl:hasDbXref MESH:D010022 semapv:UnspecifiedMatching DOID:13533 osteopetrosis oboInOwl:hasDbXref NCI:C26840 semapv:UnspecifiedMatching -DOID:13533 osteopetrosis oboInOwl:hasDbXref OMIMPS:259700 semapv:UnspecifiedMatching -DOID:13533 osteopetrosis oboInOwl:hasDbXref OMIMPS:607634 semapv:UnspecifiedMatching DOID:13533 osteopetrosis oboInOwl:hasDbXref ORDO:667 semapv:UnspecifiedMatching DOID:13533 osteopetrosis oboInOwl:hasDbXref UMLS:C0029454 semapv:UnspecifiedMatching DOID:13534 purulent labyrinthitis oboInOwl:hasDbXref ICD9CM:386.33 semapv:UnspecifiedMatching @@ -23084,9 +12865,6 @@ DOID:13543 hyperparathyroidism oboInOwl:hasDbXref ICD10CM:E21.3 semapv:Unspecifi DOID:13543 hyperparathyroidism oboInOwl:hasDbXref ICD9CM:252.0 semapv:UnspecifiedMatching DOID:13543 hyperparathyroidism oboInOwl:hasDbXref MESH:D006961 semapv:UnspecifiedMatching DOID:13543 hyperparathyroidism oboInOwl:hasDbXref NCI:C48259 semapv:UnspecifiedMatching -DOID:13543 hyperparathyroidism oboInOwl:hasDbXref OMIM:145000 semapv:UnspecifiedMatching -DOID:13543 hyperparathyroidism oboInOwl:hasDbXref OMIM:145001 semapv:UnspecifiedMatching -DOID:13543 hyperparathyroidism oboInOwl:hasDbXref OMIM:610071 semapv:UnspecifiedMatching DOID:13543 hyperparathyroidism oboInOwl:hasDbXref ORDO:99879 semapv:UnspecifiedMatching DOID:13543 hyperparathyroidism oboInOwl:hasDbXref UMLS:C0020502 semapv:UnspecifiedMatching DOID:13544 low tension glaucoma oboInOwl:hasDbXref ICD10CM:H40.12 semapv:UnspecifiedMatching @@ -23181,10 +12959,8 @@ DOID:13608 biliary atresia oboInOwl:hasDbXref ICD10CM:Q44.2 semapv:UnspecifiedMa DOID:13608 biliary atresia oboInOwl:hasDbXref ICD9CM:751.61 semapv:UnspecifiedMatching DOID:13608 biliary atresia oboInOwl:hasDbXref MESH:D001656 semapv:UnspecifiedMatching DOID:13608 biliary atresia oboInOwl:hasDbXref NCI:C34421 semapv:UnspecifiedMatching -DOID:13608 biliary atresia oboInOwl:hasDbXref OMIM:210500 semapv:UnspecifiedMatching DOID:13608 biliary atresia oboInOwl:hasDbXref ORDO:30391 semapv:UnspecifiedMatching DOID:13608 biliary atresia oboInOwl:hasDbXref UMLS:C0005411 semapv:UnspecifiedMatching -DOID:13608 biliary atresia skos:exactMatch OMIM:210500 semapv:UnspecifiedMatching DOID:1361 frontal sinus benign neoplasm oboInOwl:hasDbXref NCI:C4419 semapv:UnspecifiedMatching DOID:1361 frontal sinus benign neoplasm oboInOwl:hasDbXref UMLS:C0345672 semapv:UnspecifiedMatching DOID:13619 extrahepatic cholestasis oboInOwl:hasDbXref MESH:D001651 semapv:UnspecifiedMatching @@ -23216,20 +12992,16 @@ DOID:13636 Fanconi anemia oboInOwl:hasDbXref GARD:6425 semapv:UnspecifiedMatchin DOID:13636 Fanconi anemia oboInOwl:hasDbXref ICD10CM:D61.09 semapv:UnspecifiedMatching DOID:13636 Fanconi anemia oboInOwl:hasDbXref MESH:D005199 semapv:UnspecifiedMatching DOID:13636 Fanconi anemia oboInOwl:hasDbXref NCI:C62505 semapv:UnspecifiedMatching -DOID:13636 Fanconi anemia oboInOwl:hasDbXref OMIMPS:227650 semapv:UnspecifiedMatching DOID:13636 Fanconi anemia oboInOwl:hasDbXref ORDO:84 semapv:UnspecifiedMatching DOID:13636 Fanconi anemia oboInOwl:hasDbXref UMLS:C0015625 semapv:UnspecifiedMatching -DOID:13636 Fanconi anemia skos:exactMatch OMIMPS:227650 semapv:UnspecifiedMatching DOID:1364 ethmoidal sinus benign neoplasm oboInOwl:hasDbXref NCI:C4416 semapv:UnspecifiedMatching DOID:1364 ethmoidal sinus benign neoplasm oboInOwl:hasDbXref UMLS:C0345668 semapv:UnspecifiedMatching DOID:13641 exfoliation syndrome oboInOwl:hasDbXref EFO:0004235 semapv:UnspecifiedMatching DOID:13641 exfoliation syndrome oboInOwl:hasDbXref ICD9CM:365.52 semapv:UnspecifiedMatching DOID:13641 exfoliation syndrome oboInOwl:hasDbXref MESH:D017889 semapv:UnspecifiedMatching DOID:13641 exfoliation syndrome oboInOwl:hasDbXref NCI:C129025 semapv:UnspecifiedMatching -DOID:13641 exfoliation syndrome oboInOwl:hasDbXref OMIM:177650 semapv:UnspecifiedMatching DOID:13641 exfoliation syndrome oboInOwl:hasDbXref UMLS:C0206368 semapv:UnspecifiedMatching DOID:13641 exfoliation syndrome skos:exactMatch MESH:D017889 semapv:UnspecifiedMatching -DOID:13641 exfoliation syndrome skos:exactMatch OMIM:177650 semapv:UnspecifiedMatching DOID:13649 polyneuropathy in collagen vascular disease oboInOwl:hasDbXref ICD9CM:357.1 semapv:UnspecifiedMatching DOID:13649 polyneuropathy in collagen vascular disease oboInOwl:hasDbXref UMLS:C0154759 semapv:UnspecifiedMatching DOID:13651 eversion of lacrimal punctum oboInOwl:hasDbXref ICD10CM:H04.52 semapv:UnspecifiedMatching @@ -23291,10 +13063,8 @@ DOID:13714 anodontia oboInOwl:hasDbXref ICD10CM:K00.0 semapv:UnspecifiedMatching DOID:13714 anodontia oboInOwl:hasDbXref ICD9CM:520.0 semapv:UnspecifiedMatching DOID:13714 anodontia oboInOwl:hasDbXref MESH:D000848 semapv:UnspecifiedMatching DOID:13714 anodontia oboInOwl:hasDbXref NCI:C172328 semapv:UnspecifiedMatching -DOID:13714 anodontia oboInOwl:hasDbXref OMIM:206780 semapv:UnspecifiedMatching DOID:13714 anodontia oboInOwl:hasDbXref UMLS:C0399352 semapv:UnspecifiedMatching DOID:13714 anodontia skos:exactMatch MESH:D000848 semapv:UnspecifiedMatching -DOID:13714 anodontia skos:exactMatch OMIM:206780 semapv:UnspecifiedMatching DOID:13717 mature cataract oboInOwl:hasDbXref UMLS:C0152257 semapv:UnspecifiedMatching DOID:13722 neuroschistosomiasis oboInOwl:hasDbXref MESH:D020818 semapv:UnspecifiedMatching DOID:13722 neuroschistosomiasis oboInOwl:hasDbXref UMLS:C0752191 semapv:UnspecifiedMatching @@ -23302,9 +13072,7 @@ DOID:13724 scurvy oboInOwl:hasDbXref GARD:10406 semapv:UnspecifiedMatching DOID:13724 scurvy oboInOwl:hasDbXref ICD10CM:E54 semapv:UnspecifiedMatching DOID:13724 scurvy oboInOwl:hasDbXref MESH:D012614 semapv:UnspecifiedMatching DOID:13724 scurvy oboInOwl:hasDbXref NCI:C35010 semapv:UnspecifiedMatching -DOID:13724 scurvy oboInOwl:hasDbXref OMIM:240400 semapv:UnspecifiedMatching DOID:13724 scurvy oboInOwl:hasDbXref UMLS:C0036474 semapv:UnspecifiedMatching -DOID:13724 scurvy skos:exactMatch OMIM:240400 semapv:UnspecifiedMatching DOID:13725 beriberi oboInOwl:hasDbXref GARD:9948 semapv:UnspecifiedMatching DOID:13725 beriberi oboInOwl:hasDbXref ICD10CM:E51.1 semapv:UnspecifiedMatching DOID:13725 beriberi oboInOwl:hasDbXref ICD9CM:265.0 semapv:UnspecifiedMatching @@ -23362,8 +13130,6 @@ DOID:13774 Addison's disease oboInOwl:hasDbXref GARD:5740 semapv:UnspecifiedMatc DOID:13774 Addison's disease oboInOwl:hasDbXref ICD10CM:E27.1 semapv:UnspecifiedMatching DOID:13774 Addison's disease oboInOwl:hasDbXref MESH:D000224 semapv:UnspecifiedMatching DOID:13774 Addison's disease oboInOwl:hasDbXref NCI:C26689 semapv:UnspecifiedMatching -DOID:13774 Addison's disease oboInOwl:hasDbXref OMIM:103230 semapv:UnspecifiedMatching -DOID:13774 Addison's disease oboInOwl:hasDbXref OMIM:240200 semapv:UnspecifiedMatching DOID:13774 Addison's disease oboInOwl:hasDbXref UMLS:C0001403 semapv:UnspecifiedMatching DOID:13775 plantar wart oboInOwl:hasDbXref ICD10CM:B07.0 semapv:UnspecifiedMatching DOID:13775 plantar wart oboInOwl:hasDbXref ICD9CM:078.12 semapv:UnspecifiedMatching @@ -23372,11 +13138,9 @@ DOID:13775 plantar wart oboInOwl:hasDbXref UMLS:C0042548 semapv:UnspecifiedMatch DOID:13777 epidermodysplasia verruciformis oboInOwl:hasDbXref GARD:6357 semapv:UnspecifiedMatching DOID:13777 epidermodysplasia verruciformis oboInOwl:hasDbXref MESH:D004819 semapv:UnspecifiedMatching DOID:13777 epidermodysplasia verruciformis oboInOwl:hasDbXref NCI:C126877 semapv:UnspecifiedMatching -DOID:13777 epidermodysplasia verruciformis oboInOwl:hasDbXref OMIMPS:226400 semapv:UnspecifiedMatching DOID:13777 epidermodysplasia verruciformis oboInOwl:hasDbXref ORDO:302 semapv:UnspecifiedMatching DOID:13777 epidermodysplasia verruciformis oboInOwl:hasDbXref UMLS:C0014522 semapv:UnspecifiedMatching DOID:13777 epidermodysplasia verruciformis skos:exactMatch MESH:D004819 semapv:UnspecifiedMatching -DOID:13777 epidermodysplasia verruciformis skos:exactMatch OMIMPS:226400 semapv:UnspecifiedMatching DOID:13778 chancroid oboInOwl:hasDbXref GARD:9522 semapv:UnspecifiedMatching DOID:13778 chancroid oboInOwl:hasDbXref ICD10CM:A57 semapv:UnspecifiedMatching DOID:13778 chancroid oboInOwl:hasDbXref ICD9CM:099.0 semapv:UnspecifiedMatching @@ -23415,10 +13179,8 @@ DOID:1380 endometrial cancer oboInOwl:hasDbXref KEGG:05213 semapv:UnspecifiedMat DOID:1380 endometrial cancer oboInOwl:hasDbXref MESH:D016889 semapv:UnspecifiedMatching DOID:1380 endometrial cancer oboInOwl:hasDbXref NCI:C27815 semapv:UnspecifiedMatching DOID:1380 endometrial cancer oboInOwl:hasDbXref NCI:C3012 semapv:UnspecifiedMatching -DOID:1380 endometrial cancer oboInOwl:hasDbXref OMIM:608089 semapv:UnspecifiedMatching DOID:1380 endometrial cancer oboInOwl:hasDbXref UMLS:C0007103 semapv:UnspecifiedMatching DOID:1380 endometrial cancer oboInOwl:hasDbXref UMLS:C0014170 semapv:UnspecifiedMatching -DOID:1380 endometrial cancer skos:exactMatch OMIM:608089 semapv:UnspecifiedMatching DOID:13800 inclusion conjunctivitis oboInOwl:hasDbXref GARD:6777 semapv:UnspecifiedMatching DOID:13800 inclusion conjunctivitis oboInOwl:hasDbXref ICD10CM:A74.0 semapv:UnspecifiedMatching DOID:13800 inclusion conjunctivitis oboInOwl:hasDbXref ICD9CM:077.0 semapv:UnspecifiedMatching @@ -23431,9 +13193,7 @@ DOID:13801 pharyngoconjunctival fever oboInOwl:hasDbXref UMLS:C0031351 semapv:Un DOID:13809 familial combined hyperlipidemia oboInOwl:hasDbXref ICD10CM:E78.49 semapv:UnspecifiedMatching DOID:13809 familial combined hyperlipidemia oboInOwl:hasDbXref MESH:D006950 semapv:UnspecifiedMatching DOID:13809 familial combined hyperlipidemia oboInOwl:hasDbXref NCI:C35637 semapv:UnspecifiedMatching -DOID:13809 familial combined hyperlipidemia oboInOwl:hasDbXref OMIM:144250 semapv:UnspecifiedMatching DOID:13809 familial combined hyperlipidemia oboInOwl:hasDbXref UMLS:C0020474 semapv:UnspecifiedMatching -DOID:13809 familial combined hyperlipidemia skos:exactMatch OMIM:144250 semapv:UnspecifiedMatching DOID:1381 Fox-Fordyce disease oboInOwl:hasDbXref GARD:6462 semapv:UnspecifiedMatching DOID:1381 Fox-Fordyce disease oboInOwl:hasDbXref ICD10CM:L75.2 semapv:UnspecifiedMatching DOID:1381 Fox-Fordyce disease oboInOwl:hasDbXref ICD9CM:705.82 semapv:UnspecifiedMatching @@ -23444,10 +13204,8 @@ DOID:13810 familial hypercholesterolemia oboInOwl:hasDbXref GARD:10416 semapv:Un DOID:13810 familial hypercholesterolemia oboInOwl:hasDbXref ICD10CM:E78.01 semapv:UnspecifiedMatching DOID:13810 familial hypercholesterolemia oboInOwl:hasDbXref MESH:D006938 semapv:UnspecifiedMatching DOID:13810 familial hypercholesterolemia oboInOwl:hasDbXref NCI:C34704 semapv:UnspecifiedMatching -DOID:13810 familial hypercholesterolemia oboInOwl:hasDbXref OMIM:143890 semapv:UnspecifiedMatching DOID:13810 familial hypercholesterolemia oboInOwl:hasDbXref ORDO:406 semapv:UnspecifiedMatching DOID:13810 familial hypercholesterolemia oboInOwl:hasDbXref UMLS:C0020445 semapv:UnspecifiedMatching -DOID:13810 familial hypercholesterolemia skos:exactMatch OMIM:143890 semapv:UnspecifiedMatching DOID:13811 chronic subinvolution of uterus oboInOwl:hasDbXref ICD9CM:621.1 semapv:UnspecifiedMatching DOID:13811 chronic subinvolution of uterus oboInOwl:hasDbXref UMLS:C0156370 semapv:UnspecifiedMatching DOID:13812 adhesions of uterus oboInOwl:hasDbXref UMLS:C0241593 semapv:UnspecifiedMatching @@ -23483,9 +13241,7 @@ DOID:13832 patent ductus arteriosus oboInOwl:hasDbXref ICD10CM:Q25.0 semapv:Unsp DOID:13832 patent ductus arteriosus oboInOwl:hasDbXref ICD9CM:747.0 semapv:UnspecifiedMatching DOID:13832 patent ductus arteriosus oboInOwl:hasDbXref MESH:D004374 semapv:UnspecifiedMatching DOID:13832 patent ductus arteriosus oboInOwl:hasDbXref NCI:C84492 semapv:UnspecifiedMatching -DOID:13832 patent ductus arteriosus oboInOwl:hasDbXref OMIM:607411 semapv:UnspecifiedMatching DOID:13832 patent ductus arteriosus oboInOwl:hasDbXref UMLS:C0013274 semapv:UnspecifiedMatching -DOID:13832 patent ductus arteriosus skos:exactMatch OMIM:607411 semapv:UnspecifiedMatching DOID:13839 extrapyramidal and movement disease oboInOwl:hasDbXref ICD10CM:G25.9 semapv:UnspecifiedMatching DOID:13839 extrapyramidal and movement disease oboInOwl:hasDbXref ICD9CM:333.90 semapv:UnspecifiedMatching DOID:13839 extrapyramidal and movement disease oboInOwl:hasDbXref UMLS:C0477355 semapv:UnspecifiedMatching @@ -23493,10 +13249,8 @@ DOID:1386 abetalipoproteinemia oboInOwl:hasDbXref GARD:5 semapv:UnspecifiedMatch DOID:1386 abetalipoproteinemia oboInOwl:hasDbXref ICD10CM:E78.6 semapv:UnspecifiedMatching DOID:1386 abetalipoproteinemia oboInOwl:hasDbXref MESH:D000012 semapv:UnspecifiedMatching DOID:1386 abetalipoproteinemia oboInOwl:hasDbXref NCI:C84525 semapv:UnspecifiedMatching -DOID:1386 abetalipoproteinemia oboInOwl:hasDbXref OMIM:200100 semapv:UnspecifiedMatching DOID:1386 abetalipoproteinemia oboInOwl:hasDbXref UMLS:C0000744 semapv:UnspecifiedMatching DOID:1386 abetalipoproteinemia skos:exactMatch MESH:D000012 semapv:UnspecifiedMatching -DOID:1386 abetalipoproteinemia skos:exactMatch OMIM:200100 semapv:UnspecifiedMatching DOID:13861 scleroperikeratitis oboInOwl:hasDbXref ICD10CM:H15.04 semapv:UnspecifiedMatching DOID:13861 scleroperikeratitis oboInOwl:hasDbXref ICD9CM:379.05 semapv:UnspecifiedMatching DOID:13861 scleroperikeratitis oboInOwl:hasDbXref UMLS:C0155355 semapv:UnspecifiedMatching @@ -23531,15 +13285,11 @@ DOID:1388 Tangier disease oboInOwl:hasDbXref GARD:7731 semapv:UnspecifiedMatchin DOID:1388 Tangier disease oboInOwl:hasDbXref ICD10CM:E78.6 semapv:UnspecifiedMatching DOID:1388 Tangier disease oboInOwl:hasDbXref MESH:D013631 semapv:UnspecifiedMatching DOID:1388 Tangier disease oboInOwl:hasDbXref NCI:C85182 semapv:UnspecifiedMatching -DOID:1388 Tangier disease oboInOwl:hasDbXref OMIM:205400 semapv:UnspecifiedMatching DOID:1388 Tangier disease oboInOwl:hasDbXref UMLS:C0039292 semapv:UnspecifiedMatching DOID:1388 Tangier disease skos:exactMatch MESH:D013631 semapv:UnspecifiedMatching -DOID:1388 Tangier disease skos:exactMatch OMIM:205400 semapv:UnspecifiedMatching DOID:13884 sick sinus syndrome oboInOwl:hasDbXref ICD10CM:I49.5 semapv:UnspecifiedMatching DOID:13884 sick sinus syndrome oboInOwl:hasDbXref MESH:D012804 semapv:UnspecifiedMatching DOID:13884 sick sinus syndrome oboInOwl:hasDbXref NCI:C62244 semapv:UnspecifiedMatching -DOID:13884 sick sinus syndrome oboInOwl:hasDbXref OMIM:163800 semapv:UnspecifiedMatching -DOID:13884 sick sinus syndrome oboInOwl:hasDbXref OMIM:608567 semapv:UnspecifiedMatching DOID:13884 sick sinus syndrome oboInOwl:hasDbXref ORDO:166282 semapv:UnspecifiedMatching DOID:13884 sick sinus syndrome oboInOwl:hasDbXref UMLS:C0037052 semapv:UnspecifiedMatching DOID:13884 sick sinus syndrome skos:exactMatch MESH:D012804 semapv:UnspecifiedMatching @@ -23565,21 +13315,15 @@ DOID:13902 white piedra oboInOwl:hasDbXref UMLS:C0031898 semapv:UnspecifiedMatch DOID:13902 white piedra oboInOwl:hasDbXref UMLS:C0040249 semapv:UnspecifiedMatching DOID:13909 red-green color blindness oboInOwl:hasDbXref ICD9CM:368.52 semapv:UnspecifiedMatching DOID:13909 red-green color blindness oboInOwl:hasDbXref MESH:D003117 semapv:UnspecifiedMatching -DOID:13909 red-green color blindness oboInOwl:hasDbXref OMIM:303800 semapv:UnspecifiedMatching DOID:13909 red-green color blindness oboInOwl:hasDbXref ORDO:319698 semapv:UnspecifiedMatching DOID:13909 red-green color blindness oboInOwl:hasDbXref UMLS:C0155016 semapv:UnspecifiedMatching -DOID:13909 red-green color blindness skos:exactMatch OMIM:303800 semapv:UnspecifiedMatching DOID:1391 Norum disease oboInOwl:hasDbXref ICD10CM:E78.6 semapv:UnspecifiedMatching DOID:1391 Norum disease oboInOwl:hasDbXref MESH:D007863 semapv:UnspecifiedMatching DOID:1391 Norum disease oboInOwl:hasDbXref NCI:C84813 semapv:UnspecifiedMatching -DOID:1391 Norum disease oboInOwl:hasDbXref OMIM:245900 semapv:UnspecifiedMatching DOID:1391 Norum disease oboInOwl:hasDbXref UMLS:C0023195 semapv:UnspecifiedMatching -DOID:1391 Norum disease skos:exactMatch OMIM:245900 semapv:UnspecifiedMatching DOID:13910 red color blindness oboInOwl:hasDbXref ICD9CM:368.51 semapv:UnspecifiedMatching DOID:13910 red color blindness oboInOwl:hasDbXref MESH:D003117 semapv:UnspecifiedMatching -DOID:13910 red color blindness oboInOwl:hasDbXref OMIM:303900 semapv:UnspecifiedMatching DOID:13910 red color blindness oboInOwl:hasDbXref UMLS:C0155015 semapv:UnspecifiedMatching -DOID:13910 red color blindness skos:exactMatch OMIM:303900 semapv:UnspecifiedMatching DOID:13911 achromatopsia oboInOwl:hasDbXref ICD10CM:H53.51 semapv:UnspecifiedMatching DOID:13911 achromatopsia oboInOwl:hasDbXref ICD9CM:368.54 semapv:UnspecifiedMatching DOID:13911 achromatopsia oboInOwl:hasDbXref MESH:D003117 semapv:UnspecifiedMatching @@ -23602,9 +13346,7 @@ DOID:13919 irregular astigmatism oboInOwl:hasDbXref ICD9CM:367.22 semapv:Unspeci DOID:13919 irregular astigmatism oboInOwl:hasDbXref UMLS:C0152194 semapv:UnspecifiedMatching DOID:1392 pseudopapilledema oboInOwl:hasDbXref ICD9CM:377.24 semapv:UnspecifiedMatching DOID:1392 pseudopapilledema oboInOwl:hasDbXref MESH:C562401 semapv:UnspecifiedMatching -DOID:1392 pseudopapilledema oboInOwl:hasDbXref OMIM:177800 semapv:UnspecifiedMatching DOID:1392 pseudopapilledema oboInOwl:hasDbXref UMLS:C0155300 semapv:UnspecifiedMatching -DOID:1392 pseudopapilledema skos:exactMatch OMIM:177800 semapv:UnspecifiedMatching DOID:13921 bacterial esophagitis oboInOwl:hasDbXref NCI:C27106 semapv:UnspecifiedMatching DOID:13921 bacterial esophagitis oboInOwl:hasDbXref UMLS:C0341108 semapv:UnspecifiedMatching DOID:13922 eosinophilic esophagitis oboInOwl:hasDbXref EFO:0004232 semapv:UnspecifiedMatching @@ -23612,8 +13354,6 @@ DOID:13922 eosinophilic esophagitis oboInOwl:hasDbXref ICD10CM:K20.0 semapv:Unsp DOID:13922 eosinophilic esophagitis oboInOwl:hasDbXref ICD9CM:530.13 semapv:UnspecifiedMatching DOID:13922 eosinophilic esophagitis oboInOwl:hasDbXref MESH:D057765 semapv:UnspecifiedMatching DOID:13922 eosinophilic esophagitis oboInOwl:hasDbXref NCI:C27105 semapv:UnspecifiedMatching -DOID:13922 eosinophilic esophagitis oboInOwl:hasDbXref OMIM:610247 semapv:UnspecifiedMatching -DOID:13922 eosinophilic esophagitis oboInOwl:hasDbXref OMIM:613412 semapv:UnspecifiedMatching DOID:13922 eosinophilic esophagitis oboInOwl:hasDbXref ORDO:73247 semapv:UnspecifiedMatching DOID:13922 eosinophilic esophagitis oboInOwl:hasDbXref UMLS:C0341106 semapv:UnspecifiedMatching DOID:13924 necrotizing ulcerative gingivitis oboInOwl:hasDbXref GARD:5736 semapv:UnspecifiedMatching @@ -23646,8 +13386,6 @@ DOID:1394 urinary schistosomiasis oboInOwl:hasDbXref UMLS:C0276926 semapv:Unspec DOID:13941 benign paroxysmal positional vertigo oboInOwl:hasDbXref GARD:5915 semapv:UnspecifiedMatching DOID:13941 benign paroxysmal positional vertigo oboInOwl:hasDbXref ICD9CM:386.11 semapv:UnspecifiedMatching DOID:13941 benign paroxysmal positional vertigo oboInOwl:hasDbXref MESH:D065635 semapv:UnspecifiedMatching -DOID:13941 benign paroxysmal positional vertigo oboInOwl:hasDbXref OMIM:193007 semapv:UnspecifiedMatching -DOID:13941 benign paroxysmal positional vertigo oboInOwl:hasDbXref OMIM:613106 semapv:UnspecifiedMatching DOID:13941 benign paroxysmal positional vertigo oboInOwl:hasDbXref UMLS:C0155502 semapv:UnspecifiedMatching DOID:13942 acute gonococcal salpingitis oboInOwl:hasDbXref ICD9CM:098.17 semapv:UnspecifiedMatching DOID:13942 acute gonococcal salpingitis oboInOwl:hasDbXref UMLS:C0275654 semapv:UnspecifiedMatching @@ -23657,8 +13395,6 @@ DOID:13945 CADASIL oboInOwl:hasDbXref GARD:1049 semapv:UnspecifiedMatching DOID:13945 CADASIL oboInOwl:hasDbXref ICD10CM:I67.850 semapv:UnspecifiedMatching DOID:13945 CADASIL oboInOwl:hasDbXref MESH:D046589 semapv:UnspecifiedMatching DOID:13945 CADASIL oboInOwl:hasDbXref NCI:C84606 semapv:UnspecifiedMatching -DOID:13945 CADASIL oboInOwl:hasDbXref OMIM:600142 semapv:UnspecifiedMatching -DOID:13945 CADASIL oboInOwl:hasDbXref OMIMPS:125310 semapv:UnspecifiedMatching DOID:13945 CADASIL oboInOwl:hasDbXref ORDO:136 semapv:UnspecifiedMatching DOID:13945 CADASIL oboInOwl:hasDbXref UMLS:C0751587 semapv:UnspecifiedMatching DOID:13948 bladder neck obstruction oboInOwl:hasDbXref ICD10CM:N32.0 semapv:UnspecifiedMatching @@ -23709,8 +13445,6 @@ DOID:13994 cleidocranial dysplasia oboInOwl:hasDbXref GARD:6118 semapv:Unspecifi DOID:13994 cleidocranial dysplasia oboInOwl:hasDbXref ICD10CM:Q74.0 semapv:UnspecifiedMatching DOID:13994 cleidocranial dysplasia oboInOwl:hasDbXref MESH:D002973 semapv:UnspecifiedMatching DOID:13994 cleidocranial dysplasia oboInOwl:hasDbXref NCI:C75020 semapv:UnspecifiedMatching -DOID:13994 cleidocranial dysplasia oboInOwl:hasDbXref OMIM:119600 semapv:UnspecifiedMatching -DOID:13994 cleidocranial dysplasia oboInOwl:hasDbXref OMIM:216330 semapv:UnspecifiedMatching DOID:13994 cleidocranial dysplasia oboInOwl:hasDbXref ORDO:1452 semapv:UnspecifiedMatching DOID:13994 cleidocranial dysplasia oboInOwl:hasDbXref UMLS:C0008928 semapv:UnspecifiedMatching DOID:13996 small intestine lymphoma oboInOwl:hasDbXref NCI:C4007 semapv:UnspecifiedMatching @@ -23729,12 +13463,6 @@ DOID:14000 rubeosis iridis oboInOwl:hasDbXref UMLS:C0154916 semapv:UnspecifiedMa DOID:14004 thoracic aortic aneurysm oboInOwl:hasDbXref EFO:0004282 semapv:UnspecifiedMatching DOID:14004 thoracic aortic aneurysm oboInOwl:hasDbXref MESH:D017545 semapv:UnspecifiedMatching DOID:14004 thoracic aortic aneurysm oboInOwl:hasDbXref NCI:C27001 semapv:UnspecifiedMatching -DOID:14004 thoracic aortic aneurysm oboInOwl:hasDbXref OMIM:132900 semapv:UnspecifiedMatching -DOID:14004 thoracic aortic aneurysm oboInOwl:hasDbXref OMIM:607086 semapv:UnspecifiedMatching -DOID:14004 thoracic aortic aneurysm oboInOwl:hasDbXref OMIM:607087 semapv:UnspecifiedMatching -DOID:14004 thoracic aortic aneurysm oboInOwl:hasDbXref OMIM:611788 semapv:UnspecifiedMatching -DOID:14004 thoracic aortic aneurysm oboInOwl:hasDbXref OMIM:613780 semapv:UnspecifiedMatching -DOID:14004 thoracic aortic aneurysm oboInOwl:hasDbXref OMIM:615436 semapv:UnspecifiedMatching DOID:14004 thoracic aortic aneurysm oboInOwl:hasDbXref ORDO:91387 semapv:UnspecifiedMatching DOID:14004 thoracic aortic aneurysm oboInOwl:hasDbXref UMLS:C0162872 semapv:UnspecifiedMatching DOID:14006 splenic artery aneurysm oboInOwl:hasDbXref ICD9CM:442.83 semapv:UnspecifiedMatching @@ -23820,9 +13548,7 @@ DOID:14080 glucocorticoid-remediable aldosteronism oboInOwl:hasDbXref ICD10CM:E2 DOID:14080 glucocorticoid-remediable aldosteronism oboInOwl:hasDbXref ICD9CM:255.11 semapv:UnspecifiedMatching DOID:14080 glucocorticoid-remediable aldosteronism oboInOwl:hasDbXref MESH:C563177 semapv:UnspecifiedMatching DOID:14080 glucocorticoid-remediable aldosteronism oboInOwl:hasDbXref NCI:C127161 semapv:UnspecifiedMatching -DOID:14080 glucocorticoid-remediable aldosteronism oboInOwl:hasDbXref OMIM:103900 semapv:UnspecifiedMatching DOID:14080 glucocorticoid-remediable aldosteronism oboInOwl:hasDbXref UMLS:C3838731 semapv:UnspecifiedMatching -DOID:14080 glucocorticoid-remediable aldosteronism skos:exactMatch OMIM:103900 semapv:UnspecifiedMatching DOID:14081 toxic labyrinthitis oboInOwl:hasDbXref ICD9CM:386.34 semapv:UnspecifiedMatching DOID:14081 toxic labyrinthitis oboInOwl:hasDbXref UMLS:C0155507 semapv:UnspecifiedMatching DOID:14087 epicondylitis oboInOwl:hasDbXref ICD10CM:M77.1 semapv:UnspecifiedMatching @@ -23869,19 +13595,15 @@ DOID:14115 toxic shock syndrome oboInOwl:hasDbXref UMLS:C0600327 semapv:Unspecif DOID:14116 multiple symmetric lipomatosis oboInOwl:hasDbXref GARD:6957 semapv:UnspecifiedMatching DOID:14116 multiple symmetric lipomatosis oboInOwl:hasDbXref MESH:D008069 semapv:UnspecifiedMatching DOID:14116 multiple symmetric lipomatosis oboInOwl:hasDbXref NCI:C4392 semapv:UnspecifiedMatching -DOID:14116 multiple symmetric lipomatosis oboInOwl:hasDbXref OMIM:151800 semapv:UnspecifiedMatching DOID:14116 multiple symmetric lipomatosis oboInOwl:hasDbXref UMLS:C0023804 semapv:UnspecifiedMatching DOID:14116 multiple symmetric lipomatosis oboInOwl:hasDbXref UMLS:C0028253 semapv:UnspecifiedMatching -DOID:14116 multiple symmetric lipomatosis skos:exactMatch OMIM:151800 semapv:UnspecifiedMatching DOID:14118 familial lipoprotein lipase deficiency oboInOwl:hasDbXref GARD:12241 semapv:UnspecifiedMatching DOID:14118 familial lipoprotein lipase deficiency oboInOwl:hasDbXref ICD10CM:E78.3 semapv:UnspecifiedMatching DOID:14118 familial lipoprotein lipase deficiency oboInOwl:hasDbXref ICD9CM:272.3 semapv:UnspecifiedMatching DOID:14118 familial lipoprotein lipase deficiency oboInOwl:hasDbXref MESH:D008072 semapv:UnspecifiedMatching DOID:14118 familial lipoprotein lipase deficiency oboInOwl:hasDbXref NCI:C84771 semapv:UnspecifiedMatching -DOID:14118 familial lipoprotein lipase deficiency oboInOwl:hasDbXref OMIM:238600 semapv:UnspecifiedMatching DOID:14118 familial lipoprotein lipase deficiency oboInOwl:hasDbXref ORDO:309015 semapv:UnspecifiedMatching DOID:14118 familial lipoprotein lipase deficiency oboInOwl:hasDbXref UMLS:C0023817 semapv:UnspecifiedMatching -DOID:14118 familial lipoprotein lipase deficiency skos:exactMatch OMIM:238600 semapv:UnspecifiedMatching DOID:1412 bacteriuria oboInOwl:hasDbXref ICD10CM:R82.71 semapv:UnspecifiedMatching DOID:1412 bacteriuria oboInOwl:hasDbXref MEDDRA:10004056 semapv:UnspecifiedMatching DOID:1412 bacteriuria oboInOwl:hasDbXref MESH:D001437 semapv:UnspecifiedMatching @@ -23914,9 +13636,7 @@ DOID:14146 ureterolithiasis oboInOwl:hasDbXref UMLS:C0041952 semapv:UnspecifiedM DOID:1415 gyrate atrophy oboInOwl:hasDbXref GARD:6556 semapv:UnspecifiedMatching DOID:1415 gyrate atrophy oboInOwl:hasDbXref MESH:D015799 semapv:UnspecifiedMatching DOID:1415 gyrate atrophy oboInOwl:hasDbXref NCI:C84744 semapv:UnspecifiedMatching -DOID:1415 gyrate atrophy oboInOwl:hasDbXref OMIM:258870 semapv:UnspecifiedMatching DOID:1415 gyrate atrophy oboInOwl:hasDbXref UMLS:C0018425 semapv:UnspecifiedMatching -DOID:1415 gyrate atrophy skos:exactMatch OMIM:258870 semapv:UnspecifiedMatching DOID:14150 spinal cord lymphoma oboInOwl:hasDbXref NCI:C5157 semapv:UnspecifiedMatching DOID:14150 spinal cord lymphoma oboInOwl:hasDbXref UMLS:C1336044 semapv:UnspecifiedMatching DOID:14151 spinal cord melanoma oboInOwl:hasDbXref NCI:C5158 semapv:UnspecifiedMatching @@ -23948,9 +13668,7 @@ DOID:14175 von Hippel-Lindau disease oboInOwl:hasDbXref GARD:7855 semapv:Unspeci DOID:14175 von Hippel-Lindau disease oboInOwl:hasDbXref ICD10CM:Q85.83 semapv:UnspecifiedMatching DOID:14175 von Hippel-Lindau disease oboInOwl:hasDbXref MESH:D006623 semapv:UnspecifiedMatching DOID:14175 von Hippel-Lindau disease oboInOwl:hasDbXref NCI:C3105 semapv:UnspecifiedMatching -DOID:14175 von Hippel-Lindau disease oboInOwl:hasDbXref OMIM:193300 semapv:UnspecifiedMatching DOID:14175 von Hippel-Lindau disease oboInOwl:hasDbXref UMLS:C0019562 semapv:UnspecifiedMatching -DOID:14175 von Hippel-Lindau disease skos:exactMatch OMIM:193300 semapv:UnspecifiedMatching DOID:14176 selective IgG deficiency disease oboInOwl:hasDbXref GARD:10371 semapv:UnspecifiedMatching DOID:14176 selective IgG deficiency disease oboInOwl:hasDbXref ICD10CM:D80.3 semapv:UnspecifiedMatching DOID:14176 selective IgG deficiency disease oboInOwl:hasDbXref MESH:D017099 semapv:UnspecifiedMatching @@ -23960,10 +13678,8 @@ DOID:14177 congenital hypogammaglobulinemia oboInOwl:hasDbXref ICD9CM:279.04 sem DOID:14177 congenital hypogammaglobulinemia oboInOwl:hasDbXref UMLS:C1457897 semapv:UnspecifiedMatching DOID:14179 X-linked agammaglobulinemia oboInOwl:hasDbXref MESH:C537409 semapv:UnspecifiedMatching DOID:14179 X-linked agammaglobulinemia oboInOwl:hasDbXref NCI:C3822 semapv:UnspecifiedMatching -DOID:14179 X-linked agammaglobulinemia oboInOwl:hasDbXref OMIM:300755 semapv:UnspecifiedMatching DOID:14179 X-linked agammaglobulinemia oboInOwl:hasDbXref ORDO:47 semapv:UnspecifiedMatching DOID:14179 X-linked agammaglobulinemia oboInOwl:hasDbXref UMLS:C0221026 semapv:UnspecifiedMatching -DOID:14179 X-linked agammaglobulinemia skos:exactMatch OMIM:300755 semapv:UnspecifiedMatching DOID:14181 calcific tendinitis oboInOwl:hasDbXref ICD10CM:M75.3 semapv:UnspecifiedMatching DOID:14181 calcific tendinitis oboInOwl:hasDbXref ICD9CM:726.11 semapv:UnspecifiedMatching DOID:14181 calcific tendinitis oboInOwl:hasDbXref UMLS:C0158303 semapv:UnspecifiedMatching @@ -24000,17 +13716,12 @@ DOID:14213 hypophosphatasia oboInOwl:hasDbXref UMLS:C0220743 semapv:UnspecifiedM DOID:14218 dihydropyrimidine dehydrogenase deficiency oboInOwl:hasDbXref GARD:19 semapv:UnspecifiedMatching DOID:14218 dihydropyrimidine dehydrogenase deficiency oboInOwl:hasDbXref MESH:D054067 semapv:UnspecifiedMatching DOID:14218 dihydropyrimidine dehydrogenase deficiency oboInOwl:hasDbXref NCI:C84672 semapv:UnspecifiedMatching -DOID:14218 dihydropyrimidine dehydrogenase deficiency oboInOwl:hasDbXref OMIM:274270 semapv:UnspecifiedMatching DOID:14218 dihydropyrimidine dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C1959620 semapv:UnspecifiedMatching DOID:14218 dihydropyrimidine dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C3495551 semapv:UnspecifiedMatching -DOID:14218 dihydropyrimidine dehydrogenase deficiency skos:exactMatch OMIM:274270 semapv:UnspecifiedMatching DOID:14219 renal tubular acidosis oboInOwl:hasDbXref GARD:7552 semapv:UnspecifiedMatching DOID:14219 renal tubular acidosis oboInOwl:hasDbXref ICD10CM:N25.89 semapv:UnspecifiedMatching DOID:14219 renal tubular acidosis oboInOwl:hasDbXref MESH:D000141 semapv:UnspecifiedMatching DOID:14219 renal tubular acidosis oboInOwl:hasDbXref NCI:C28129 semapv:UnspecifiedMatching -DOID:14219 renal tubular acidosis oboInOwl:hasDbXref OMIM:179830 semapv:UnspecifiedMatching -DOID:14219 renal tubular acidosis oboInOwl:hasDbXref OMIM:267200 semapv:UnspecifiedMatching -DOID:14219 renal tubular acidosis oboInOwl:hasDbXref OMIM:602722 semapv:UnspecifiedMatching DOID:14219 renal tubular acidosis oboInOwl:hasDbXref UMLS:C0001126 semapv:UnspecifiedMatching DOID:14221 abdominal obesity-metabolic syndrome 1 oboInOwl:hasDbXref EFO:0000195 semapv:UnspecifiedMatching DOID:14221 abdominal obesity-metabolic syndrome 1 oboInOwl:hasDbXref GARD:9226 semapv:UnspecifiedMatching @@ -24018,9 +13729,7 @@ DOID:14221 abdominal obesity-metabolic syndrome 1 oboInOwl:hasDbXref ICD10CM:E88 DOID:14221 abdominal obesity-metabolic syndrome 1 oboInOwl:hasDbXref ICD9CM:277.7 semapv:UnspecifiedMatching DOID:14221 abdominal obesity-metabolic syndrome 1 oboInOwl:hasDbXref MESH:D024821 semapv:UnspecifiedMatching DOID:14221 abdominal obesity-metabolic syndrome 1 oboInOwl:hasDbXref NCI:C84442 semapv:UnspecifiedMatching -DOID:14221 abdominal obesity-metabolic syndrome 1 oboInOwl:hasDbXref OMIM:605552 semapv:UnspecifiedMatching DOID:14221 abdominal obesity-metabolic syndrome 1 oboInOwl:hasDbXref UMLS:C0524620 semapv:UnspecifiedMatching -DOID:14221 abdominal obesity-metabolic syndrome 1 skos:exactMatch OMIM:605552 semapv:UnspecifiedMatching DOID:14223 ochronosis oboInOwl:hasDbXref GARD:7231 semapv:UnspecifiedMatching DOID:14223 ochronosis oboInOwl:hasDbXref ICD10CM:E70.29 semapv:UnspecifiedMatching DOID:14223 ochronosis oboInOwl:hasDbXref MESH:D009794 semapv:UnspecifiedMatching @@ -24076,10 +13785,8 @@ DOID:14250 Down syndrome oboInOwl:hasDbXref ICD10CM:Q90 semapv:UnspecifiedMatchi DOID:14250 Down syndrome oboInOwl:hasDbXref ICD9CM:758.0 semapv:UnspecifiedMatching DOID:14250 Down syndrome oboInOwl:hasDbXref MESH:D004314 semapv:UnspecifiedMatching DOID:14250 Down syndrome oboInOwl:hasDbXref NCI:C2993 semapv:UnspecifiedMatching -DOID:14250 Down syndrome oboInOwl:hasDbXref OMIM:190685 semapv:UnspecifiedMatching DOID:14250 Down syndrome oboInOwl:hasDbXref ORDO:870 semapv:UnspecifiedMatching DOID:14250 Down syndrome oboInOwl:hasDbXref UMLS:C0013080 semapv:UnspecifiedMatching -DOID:14250 Down syndrome skos:exactMatch OMIM:190685 semapv:UnspecifiedMatching DOID:14251 vitreoretinal dystrophy oboInOwl:hasDbXref ICD10CM:H35.51 semapv:UnspecifiedMatching DOID:14251 vitreoretinal dystrophy oboInOwl:hasDbXref ICD9CM:362.73 semapv:UnspecifiedMatching DOID:14251 vitreoretinal dystrophy oboInOwl:hasDbXref UMLS:C0154863 semapv:UnspecifiedMatching @@ -24100,10 +13807,8 @@ DOID:14261 fragile X syndrome oboInOwl:hasDbXref ICD10CM:Q99.2 semapv:Unspecifie DOID:14261 fragile X syndrome oboInOwl:hasDbXref ICD9CM:759.83 semapv:UnspecifiedMatching DOID:14261 fragile X syndrome oboInOwl:hasDbXref MESH:D005600 semapv:UnspecifiedMatching DOID:14261 fragile X syndrome oboInOwl:hasDbXref NCI:C84717 semapv:UnspecifiedMatching -DOID:14261 fragile X syndrome oboInOwl:hasDbXref OMIM:300624 semapv:UnspecifiedMatching DOID:14261 fragile X syndrome oboInOwl:hasDbXref ORDO:908 semapv:UnspecifiedMatching DOID:14261 fragile X syndrome oboInOwl:hasDbXref UMLS:C0016667 semapv:UnspecifiedMatching -DOID:14261 fragile X syndrome skos:exactMatch OMIM:300624 semapv:UnspecifiedMatching DOID:14262 oral candidiasis oboInOwl:hasDbXref ICD10CM:B37.9 semapv:UnspecifiedMatching DOID:14262 oral candidiasis oboInOwl:hasDbXref ICD9CM:112.0 semapv:UnspecifiedMatching DOID:14262 oral candidiasis oboInOwl:hasDbXref MESH:D002180 semapv:UnspecifiedMatching @@ -24111,9 +13816,6 @@ DOID:14262 oral candidiasis oboInOwl:hasDbXref NCI:C28137 semapv:UnspecifiedMatc DOID:14262 oral candidiasis oboInOwl:hasDbXref UMLS:C0006849 semapv:UnspecifiedMatching DOID:14264 benign neonatal seizures oboInOwl:hasDbXref MESH:D020936 semapv:UnspecifiedMatching DOID:14264 benign neonatal seizures oboInOwl:hasDbXref NCI:C84593 semapv:UnspecifiedMatching -DOID:14264 benign neonatal seizures oboInOwl:hasDbXref OMIM:121200 semapv:UnspecifiedMatching -DOID:14264 benign neonatal seizures oboInOwl:hasDbXref OMIM:121201 semapv:UnspecifiedMatching -DOID:14264 benign neonatal seizures oboInOwl:hasDbXref OMIM:269720 semapv:UnspecifiedMatching DOID:14264 benign neonatal seizures oboInOwl:hasDbXref ORDO:1949 semapv:UnspecifiedMatching DOID:14264 benign neonatal seizures oboInOwl:hasDbXref UMLS:C0270851 semapv:UnspecifiedMatching DOID:14265 pulmonary valve insufficiency oboInOwl:hasDbXref MESH:D011665 semapv:UnspecifiedMatching @@ -24146,9 +13848,7 @@ DOID:1428 endocrine pancreas disease oboInOwl:hasDbXref UMLS:C0154189 semapv:Uns DOID:14283 primary hypertrophic osteoarthropathy oboInOwl:hasDbXref ICD10CM:M89.4 semapv:UnspecifiedMatching DOID:14283 primary hypertrophic osteoarthropathy oboInOwl:hasDbXref MESH:D010004 semapv:UnspecifiedMatching DOID:14283 primary hypertrophic osteoarthropathy oboInOwl:hasDbXref NCI:C85023 semapv:UnspecifiedMatching -DOID:14283 primary hypertrophic osteoarthropathy oboInOwl:hasDbXref OMIM:259100 semapv:UnspecifiedMatching DOID:14283 primary hypertrophic osteoarthropathy oboInOwl:hasDbXref UMLS:C0029411 semapv:UnspecifiedMatching -DOID:14283 primary hypertrophic osteoarthropathy skos:exactMatch OMIM:259100 semapv:UnspecifiedMatching DOID:14284 patellofemoral pain syndrome oboInOwl:hasDbXref MESH:D046788 semapv:UnspecifiedMatching DOID:14284 patellofemoral pain syndrome oboInOwl:hasDbXref UMLS:C0877149 semapv:UnspecifiedMatching DOID:14286 neurogenic arthropathy oboInOwl:hasDbXref ICD10CM:M14.6 semapv:UnspecifiedMatching @@ -24163,16 +13863,12 @@ DOID:14289 Ebstein anomaly oboInOwl:hasDbXref ICD10CM:Q22.5 semapv:UnspecifiedMa DOID:14289 Ebstein anomaly oboInOwl:hasDbXref ICD9CM:746.2 semapv:UnspecifiedMatching DOID:14289 Ebstein anomaly oboInOwl:hasDbXref MESH:D004437 semapv:UnspecifiedMatching DOID:14289 Ebstein anomaly oboInOwl:hasDbXref NCI:C84681 semapv:UnspecifiedMatching -DOID:14289 Ebstein anomaly oboInOwl:hasDbXref OMIM:224700 semapv:UnspecifiedMatching DOID:14289 Ebstein anomaly oboInOwl:hasDbXref UMLS:C0013481 semapv:UnspecifiedMatching -DOID:14289 Ebstein anomaly skos:exactMatch OMIM:224700 semapv:UnspecifiedMatching DOID:14291 Noonan syndrome with multiple lentigines oboInOwl:hasDbXref GARD:1100 semapv:UnspecifiedMatching DOID:14291 Noonan syndrome with multiple lentigines oboInOwl:hasDbXref MESH:D044542 semapv:UnspecifiedMatching DOID:14291 Noonan syndrome with multiple lentigines oboInOwl:hasDbXref NCI:C84820 semapv:UnspecifiedMatching -DOID:14291 Noonan syndrome with multiple lentigines oboInOwl:hasDbXref OMIMPS:151100 semapv:UnspecifiedMatching DOID:14291 Noonan syndrome with multiple lentigines oboInOwl:hasDbXref ORDO:500 semapv:UnspecifiedMatching DOID:14291 Noonan syndrome with multiple lentigines oboInOwl:hasDbXref UMLS:C0175704 semapv:UnspecifiedMatching -DOID:14291 Noonan syndrome with multiple lentigines skos:exactMatch OMIMPS:151100 semapv:UnspecifiedMatching DOID:14292 vulvar dystrophy oboInOwl:hasDbXref ICD10CM:N90.4 semapv:UnspecifiedMatching DOID:14292 vulvar dystrophy oboInOwl:hasDbXref ICD9CM:624.0 semapv:UnspecifiedMatching DOID:14292 vulvar dystrophy oboInOwl:hasDbXref NCI:C34565 semapv:UnspecifiedMatching @@ -24197,10 +13893,8 @@ DOID:14323 Marfan syndrome oboInOwl:hasDbXref ICD10CM:Q87.4 semapv:UnspecifiedMa DOID:14323 Marfan syndrome oboInOwl:hasDbXref ICD9CM:759.82 semapv:UnspecifiedMatching DOID:14323 Marfan syndrome oboInOwl:hasDbXref MESH:D008382 semapv:UnspecifiedMatching DOID:14323 Marfan syndrome oboInOwl:hasDbXref NCI:C34807 semapv:UnspecifiedMatching -DOID:14323 Marfan syndrome oboInOwl:hasDbXref OMIM:154700 semapv:UnspecifiedMatching DOID:14323 Marfan syndrome oboInOwl:hasDbXref UMLS:C0024796 semapv:UnspecifiedMatching DOID:14323 Marfan syndrome skos:exactMatch MESH:D008382 semapv:UnspecifiedMatching -DOID:14323 Marfan syndrome skos:exactMatch OMIM:154700 semapv:UnspecifiedMatching DOID:14324 Plasmodium malariae malaria oboInOwl:hasDbXref ICD10CM:B52 semapv:UnspecifiedMatching DOID:14324 Plasmodium malariae malaria oboInOwl:hasDbXref ICD9CM:084.2 semapv:UnspecifiedMatching DOID:14324 Plasmodium malariae malaria oboInOwl:hasDbXref NCI:C34799 semapv:UnspecifiedMatching @@ -24213,10 +13907,8 @@ DOID:14330 Parkinson's disease oboInOwl:hasDbXref ICD9CM:332 semapv:UnspecifiedM DOID:14330 Parkinson's disease oboInOwl:hasDbXref KEGG:05012 semapv:UnspecifiedMatching DOID:14330 Parkinson's disease oboInOwl:hasDbXref MESH:D010300 semapv:UnspecifiedMatching DOID:14330 Parkinson's disease oboInOwl:hasDbXref NCI:C26845 semapv:UnspecifiedMatching -DOID:14330 Parkinson's disease oboInOwl:hasDbXref OMIMPS:168600 semapv:UnspecifiedMatching DOID:14330 Parkinson's disease oboInOwl:hasDbXref ORDO:2828 semapv:UnspecifiedMatching DOID:14330 Parkinson's disease oboInOwl:hasDbXref UMLS:C0030567 semapv:UnspecifiedMatching -DOID:14330 Parkinson's disease skos:exactMatch OMIMPS:168600 semapv:UnspecifiedMatching DOID:14332 postencephalitic Parkinson disease oboInOwl:hasDbXref ICD10CM:G21.3 semapv:UnspecifiedMatching DOID:14332 postencephalitic Parkinson disease oboInOwl:hasDbXref MESH:D010301 semapv:UnspecifiedMatching DOID:14332 postencephalitic Parkinson disease oboInOwl:hasDbXref NCI:C34898 semapv:UnspecifiedMatching @@ -24242,9 +13934,7 @@ DOID:14365 systemic primary carnitine deficiency disease oboInOwl:hasDbXref ICD1 DOID:14365 systemic primary carnitine deficiency disease oboInOwl:hasDbXref ICD9CM:277.81 semapv:UnspecifiedMatching DOID:14365 systemic primary carnitine deficiency disease oboInOwl:hasDbXref MESH:C536778 semapv:UnspecifiedMatching DOID:14365 systemic primary carnitine deficiency disease oboInOwl:hasDbXref NCI:C98864 semapv:UnspecifiedMatching -DOID:14365 systemic primary carnitine deficiency disease oboInOwl:hasDbXref OMIM:212140 semapv:UnspecifiedMatching DOID:14365 systemic primary carnitine deficiency disease oboInOwl:hasDbXref UMLS:C0342788 semapv:UnspecifiedMatching -DOID:14365 systemic primary carnitine deficiency disease skos:exactMatch OMIM:212140 semapv:UnspecifiedMatching DOID:14374 norwegian scabies oboInOwl:hasDbXref NCI:C34855 semapv:UnspecifiedMatching DOID:14374 norwegian scabies oboInOwl:hasDbXref UMLS:C0028425 semapv:UnspecifiedMatching DOID:14384 parietal lobe neoplasm oboInOwl:hasDbXref ICD10CM:C71.3 semapv:UnspecifiedMatching @@ -24264,10 +13954,8 @@ DOID:14397 protozoal dysentery oboInOwl:hasDbXref ICD9CM:007.8 semapv:Unspecifie DOID:14397 protozoal dysentery oboInOwl:hasDbXref UMLS:C0152507 semapv:UnspecifiedMatching DOID:1440 Machado-Joseph disease oboInOwl:hasDbXref MESH:D017827 semapv:UnspecifiedMatching DOID:1440 Machado-Joseph disease oboInOwl:hasDbXref NCI:C84830 semapv:UnspecifiedMatching -DOID:1440 Machado-Joseph disease oboInOwl:hasDbXref OMIM:109150 semapv:UnspecifiedMatching DOID:1440 Machado-Joseph disease oboInOwl:hasDbXref UMLS:C0024408 semapv:UnspecifiedMatching DOID:1440 Machado-Joseph disease skos:exactMatch MESH:D017827 semapv:UnspecifiedMatching -DOID:1440 Machado-Joseph disease skos:exactMatch OMIM:109150 semapv:UnspecifiedMatching DOID:14400 capillary leak syndrome oboInOwl:hasDbXref GARD:1084 semapv:UnspecifiedMatching DOID:14400 capillary leak syndrome oboInOwl:hasDbXref MESH:D019559 semapv:UnspecifiedMatching DOID:14400 capillary leak syndrome oboInOwl:hasDbXref NCI:C62578 semapv:UnspecifiedMatching @@ -24280,20 +13968,16 @@ DOID:14402 critical illness polyneuropathy oboInOwl:hasDbXref MESH:D011115 semap DOID:14402 critical illness polyneuropathy oboInOwl:hasDbXref UMLS:C0393851 semapv:UnspecifiedMatching DOID:1441 autosomal dominant cerebellar ataxia oboInOwl:hasDbXref MESH:D020754 semapv:UnspecifiedMatching DOID:1441 autosomal dominant cerebellar ataxia oboInOwl:hasDbXref NCI:C82341 semapv:UnspecifiedMatching -DOID:1441 autosomal dominant cerebellar ataxia oboInOwl:hasDbXref OMIMPS:164400 semapv:UnspecifiedMatching DOID:1441 autosomal dominant cerebellar ataxia oboInOwl:hasDbXref ORDO:94 semapv:UnspecifiedMatching DOID:1441 autosomal dominant cerebellar ataxia oboInOwl:hasDbXref UMLS:C0087012 semapv:UnspecifiedMatching -DOID:1441 autosomal dominant cerebellar ataxia skos:exactMatch OMIMPS:164400 semapv:UnspecifiedMatching DOID:14413 labyrinthine bilateral reactive loss oboInOwl:hasDbXref ICD9CM:386.56 semapv:UnspecifiedMatching DOID:14413 labyrinthine bilateral reactive loss oboInOwl:hasDbXref UMLS:C0155520 semapv:UnspecifiedMatching DOID:14415 Legg-Calve-Perthes disease oboInOwl:hasDbXref GARD:6874 semapv:UnspecifiedMatching DOID:14415 Legg-Calve-Perthes disease oboInOwl:hasDbXref ICD10CM:M91.2 semapv:UnspecifiedMatching DOID:14415 Legg-Calve-Perthes disease oboInOwl:hasDbXref MESH:D007873 semapv:UnspecifiedMatching DOID:14415 Legg-Calve-Perthes disease oboInOwl:hasDbXref NCI:C34766 semapv:UnspecifiedMatching -DOID:14415 Legg-Calve-Perthes disease oboInOwl:hasDbXref OMIM:150600 semapv:UnspecifiedMatching DOID:14415 Legg-Calve-Perthes disease oboInOwl:hasDbXref UMLS:C0022441 semapv:UnspecifiedMatching DOID:14415 Legg-Calve-Perthes disease oboInOwl:hasDbXref UMLS:C0023234 semapv:UnspecifiedMatching -DOID:14415 Legg-Calve-Perthes disease skos:exactMatch OMIM:150600 semapv:UnspecifiedMatching DOID:14418 dracunculiasis oboInOwl:hasDbXref GARD:6286 semapv:UnspecifiedMatching DOID:14418 dracunculiasis oboInOwl:hasDbXref ICD10CM:B72 semapv:UnspecifiedMatching DOID:14418 dracunculiasis oboInOwl:hasDbXref ICD9CM:125.7 semapv:UnspecifiedMatching @@ -24333,33 +14017,25 @@ DOID:14447 gonadal dysgenesis oboInOwl:hasDbXref NCI:C61420 semapv:UnspecifiedMa DOID:14447 gonadal dysgenesis oboInOwl:hasDbXref UMLS:C0018051 semapv:UnspecifiedMatching DOID:14448 46,XY sex reversal oboInOwl:hasDbXref MESH:D006061 semapv:UnspecifiedMatching DOID:14448 46,XY sex reversal oboInOwl:hasDbXref NCI:C120198 semapv:UnspecifiedMatching -DOID:14448 46,XY sex reversal oboInOwl:hasDbXref OMIM:607080 semapv:UnspecifiedMatching -DOID:14448 46,XY sex reversal oboInOwl:hasDbXref OMIMPS:400044 semapv:UnspecifiedMatching DOID:14448 46,XY sex reversal oboInOwl:hasDbXref UMLS:C0018054 semapv:UnspecifiedMatching DOID:14449 mixed gonadal dysgenesis oboInOwl:hasDbXref MESH:D006060 semapv:UnspecifiedMatching DOID:14449 mixed gonadal dysgenesis oboInOwl:hasDbXref NCI:C120199 semapv:UnspecifiedMatching DOID:14449 mixed gonadal dysgenesis oboInOwl:hasDbXref UMLS:C0018055 semapv:UnspecifiedMatching DOID:14450 46 XX gonadal dysgenesis oboInOwl:hasDbXref MESH:D023961 semapv:UnspecifiedMatching DOID:14450 46 XX gonadal dysgenesis oboInOwl:hasDbXref NCI:C120197 semapv:UnspecifiedMatching -DOID:14450 46 XX gonadal dysgenesis oboInOwl:hasDbXref OMIMPS:233300 semapv:UnspecifiedMatching DOID:14450 46 XX gonadal dysgenesis oboInOwl:hasDbXref ORDO:243 semapv:UnspecifiedMatching DOID:14450 46 XX gonadal dysgenesis oboInOwl:hasDbXref UMLS:C0949595 semapv:UnspecifiedMatching -DOID:14450 46 XX gonadal dysgenesis skos:exactMatch OMIMPS:233300 semapv:UnspecifiedMatching DOID:14451 hyperkalemic periodic paralysis oboInOwl:hasDbXref GARD:195 semapv:UnspecifiedMatching DOID:14451 hyperkalemic periodic paralysis oboInOwl:hasDbXref ICD10CM:G72.3 semapv:UnspecifiedMatching DOID:14451 hyperkalemic periodic paralysis oboInOwl:hasDbXref MESH:D020513 semapv:UnspecifiedMatching DOID:14451 hyperkalemic periodic paralysis oboInOwl:hasDbXref NCI:C123429 semapv:UnspecifiedMatching -DOID:14451 hyperkalemic periodic paralysis oboInOwl:hasDbXref OMIM:170500 semapv:UnspecifiedMatching DOID:14451 hyperkalemic periodic paralysis oboInOwl:hasDbXref ORDO:682 semapv:UnspecifiedMatching DOID:14451 hyperkalemic periodic paralysis oboInOwl:hasDbXref UMLS:C0238357 semapv:UnspecifiedMatching -DOID:14451 hyperkalemic periodic paralysis skos:exactMatch OMIM:170500 semapv:UnspecifiedMatching DOID:14452 hypokalemic periodic paralysis oboInOwl:hasDbXref GARD:5557 semapv:UnspecifiedMatching DOID:14452 hypokalemic periodic paralysis oboInOwl:hasDbXref GARD:6729 semapv:UnspecifiedMatching DOID:14452 hypokalemic periodic paralysis oboInOwl:hasDbXref ICD10CM:G72.3 semapv:UnspecifiedMatching DOID:14452 hypokalemic periodic paralysis oboInOwl:hasDbXref MESH:D020514 semapv:UnspecifiedMatching DOID:14452 hypokalemic periodic paralysis oboInOwl:hasDbXref NCI:C84775 semapv:UnspecifiedMatching -DOID:14452 hypokalemic periodic paralysis oboInOwl:hasDbXref OMIM:170400 semapv:UnspecifiedMatching -DOID:14452 hypokalemic periodic paralysis oboInOwl:hasDbXref OMIM:613345 semapv:UnspecifiedMatching DOID:14452 hypokalemic periodic paralysis oboInOwl:hasDbXref ORDO:681 semapv:UnspecifiedMatching DOID:14452 hypokalemic periodic paralysis oboInOwl:hasDbXref UMLS:C0238358 semapv:UnspecifiedMatching DOID:14453 farmer's lung oboInOwl:hasDbXref GARD:6427 semapv:UnspecifiedMatching @@ -24413,59 +14089,43 @@ DOID:14497 Wolman disease oboInOwl:hasDbXref GARD:7899 semapv:UnspecifiedMatchin DOID:14497 Wolman disease oboInOwl:hasDbXref ICD10CM:E75.5 semapv:UnspecifiedMatching DOID:14497 Wolman disease oboInOwl:hasDbXref MESH:D015223 semapv:UnspecifiedMatching DOID:14497 Wolman disease oboInOwl:hasDbXref NCI:C61271 semapv:UnspecifiedMatching -DOID:14497 Wolman disease oboInOwl:hasDbXref OMIM:620151 semapv:UnspecifiedMatching DOID:14497 Wolman disease oboInOwl:hasDbXref ORDO:75233 semapv:UnspecifiedMatching DOID:14497 Wolman disease oboInOwl:hasDbXref UMLS:C0043208 semapv:UnspecifiedMatching DOID:14497 Wolman disease skos:broadMatch ICD10CM:E75.5 semapv:UnspecifiedMatching -DOID:14497 Wolman disease skos:exactMatch OMIM:620151 semapv:UnspecifiedMatching -DOID:14497 Wolman disease skos:exactMatch OMIM:620151 semapv:UnspecifiedMatching DOID:14497 Wolman disease skos:exactMatch ORDO:75233 semapv:UnspecifiedMatching DOID:14498 lipoid proteinosis oboInOwl:hasDbXref GARD:3268 semapv:UnspecifiedMatching DOID:14498 lipoid proteinosis oboInOwl:hasDbXref MESH:D008065 semapv:UnspecifiedMatching DOID:14498 lipoid proteinosis oboInOwl:hasDbXref NCI:C84829 semapv:UnspecifiedMatching -DOID:14498 lipoid proteinosis oboInOwl:hasDbXref OMIM:247100 semapv:UnspecifiedMatching DOID:14498 lipoid proteinosis oboInOwl:hasDbXref UMLS:C0023795 semapv:UnspecifiedMatching -DOID:14498 lipoid proteinosis skos:exactMatch OMIM:247100 semapv:UnspecifiedMatching DOID:14499 Fabry disease oboInOwl:hasDbXref GARD:6400 semapv:UnspecifiedMatching DOID:14499 Fabry disease oboInOwl:hasDbXref ICD10CM:E75.21 semapv:UnspecifiedMatching DOID:14499 Fabry disease oboInOwl:hasDbXref MESH:D000795 semapv:UnspecifiedMatching DOID:14499 Fabry disease oboInOwl:hasDbXref NCI:C84701 semapv:UnspecifiedMatching -DOID:14499 Fabry disease oboInOwl:hasDbXref OMIM:301500 semapv:UnspecifiedMatching DOID:14499 Fabry disease oboInOwl:hasDbXref UMLS:C0002986 semapv:UnspecifiedMatching -DOID:14499 Fabry disease skos:exactMatch OMIM:301500 semapv:UnspecifiedMatching DOID:14500 fucosidosis oboInOwl:hasDbXref GARD:6473 semapv:UnspecifiedMatching DOID:14500 fucosidosis oboInOwl:hasDbXref ICD10CM:E77.1 semapv:UnspecifiedMatching DOID:14500 fucosidosis oboInOwl:hasDbXref MESH:D005645 semapv:UnspecifiedMatching DOID:14500 fucosidosis oboInOwl:hasDbXref NCI:C61274 semapv:UnspecifiedMatching -DOID:14500 fucosidosis oboInOwl:hasDbXref OMIM:230000 semapv:UnspecifiedMatching DOID:14500 fucosidosis oboInOwl:hasDbXref UMLS:C0016788 semapv:UnspecifiedMatching -DOID:14500 fucosidosis skos:exactMatch OMIM:230000 semapv:UnspecifiedMatching DOID:14501 Sjogren-Larsson syndrome oboInOwl:hasDbXref GARD:7654 semapv:UnspecifiedMatching DOID:14501 Sjogren-Larsson syndrome oboInOwl:hasDbXref MESH:D016111 semapv:UnspecifiedMatching DOID:14501 Sjogren-Larsson syndrome oboInOwl:hasDbXref NCI:C85070 semapv:UnspecifiedMatching -DOID:14501 Sjogren-Larsson syndrome oboInOwl:hasDbXref OMIM:270200 semapv:UnspecifiedMatching DOID:14501 Sjogren-Larsson syndrome oboInOwl:hasDbXref ORDO:816 semapv:UnspecifiedMatching DOID:14501 Sjogren-Larsson syndrome oboInOwl:hasDbXref UMLS:C0037231 semapv:UnspecifiedMatching -DOID:14501 Sjogren-Larsson syndrome skos:exactMatch OMIM:270200 semapv:UnspecifiedMatching DOID:14502 cholesterol ester storage disease oboInOwl:hasDbXref GARD:12099 semapv:UnspecifiedMatching DOID:14502 cholesterol ester storage disease oboInOwl:hasDbXref MESH:D015217 semapv:UnspecifiedMatching -DOID:14502 cholesterol ester storage disease oboInOwl:hasDbXref OMIM:278000 semapv:UnspecifiedMatching DOID:14502 cholesterol ester storage disease oboInOwl:hasDbXref ORDO:75234 semapv:UnspecifiedMatching DOID:14502 cholesterol ester storage disease oboInOwl:hasDbXref UMLS:C0008384 semapv:UnspecifiedMatching DOID:14502 cholesterol ester storage disease skos:exactMatch GARD:12099 semapv:UnspecifiedMatching DOID:14502 cholesterol ester storage disease skos:exactMatch MESH:D015217 semapv:UnspecifiedMatching -DOID:14502 cholesterol ester storage disease skos:exactMatch OMIM:278000 semapv:UnspecifiedMatching -DOID:14502 cholesterol ester storage disease skos:exactMatch OMIM:278000 semapv:UnspecifiedMatching DOID:14502 cholesterol ester storage disease skos:exactMatch ORDO:75234 semapv:UnspecifiedMatching DOID:14503 neuronal ceroid lipofuscinosis oboInOwl:hasDbXref GARD:10739 semapv:UnspecifiedMatching DOID:14503 neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ICD10CM:E75.4 semapv:UnspecifiedMatching DOID:14503 neuronal ceroid lipofuscinosis oboInOwl:hasDbXref MESH:D009472 semapv:UnspecifiedMatching DOID:14503 neuronal ceroid lipofuscinosis oboInOwl:hasDbXref NCI:C61257 semapv:UnspecifiedMatching -DOID:14503 neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIMPS:256730 semapv:UnspecifiedMatching DOID:14503 neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ORDO:216 semapv:UnspecifiedMatching DOID:14503 neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ORDO:79262 semapv:UnspecifiedMatching DOID:14503 neuronal ceroid lipofuscinosis oboInOwl:hasDbXref UMLS:C0027877 semapv:UnspecifiedMatching -DOID:14503 neuronal ceroid lipofuscinosis skos:exactMatch OMIMPS:256730 semapv:UnspecifiedMatching DOID:14504 Niemann-Pick disease oboInOwl:hasDbXref GARD:13334 semapv:UnspecifiedMatching DOID:14504 Niemann-Pick disease oboInOwl:hasDbXref ICD10CM:E75.24 semapv:UnspecifiedMatching DOID:14504 Niemann-Pick disease oboInOwl:hasDbXref MESH:D009542 semapv:UnspecifiedMatching @@ -24480,9 +14140,7 @@ DOID:14512 candidal paronychia oboInOwl:hasDbXref UMLS:C0006842 semapv:Unspecifi DOID:14515 WAGR syndrome oboInOwl:hasDbXref GARD:5528 semapv:UnspecifiedMatching DOID:14515 WAGR syndrome oboInOwl:hasDbXref MESH:D017624 semapv:UnspecifiedMatching DOID:14515 WAGR syndrome oboInOwl:hasDbXref NCI:C3718 semapv:UnspecifiedMatching -DOID:14515 WAGR syndrome oboInOwl:hasDbXref OMIM:194072 semapv:UnspecifiedMatching DOID:14515 WAGR syndrome oboInOwl:hasDbXref UMLS:C0206115 semapv:UnspecifiedMatching -DOID:14515 WAGR syndrome skos:exactMatch OMIM:194072 semapv:UnspecifiedMatching DOID:14522 partial arterial retinal occlusion oboInOwl:hasDbXref ICD10CM:H34.21 semapv:UnspecifiedMatching DOID:14522 partial arterial retinal occlusion oboInOwl:hasDbXref ICD9CM:362.33 semapv:UnspecifiedMatching DOID:14522 partial arterial retinal occlusion oboInOwl:hasDbXref NCI:C35192 semapv:UnspecifiedMatching @@ -24525,9 +14183,7 @@ DOID:1455 geographic tongue oboInOwl:hasDbXref ICD10CM:K14.1 semapv:UnspecifiedM DOID:1455 geographic tongue oboInOwl:hasDbXref ICD9CM:529.1 semapv:UnspecifiedMatching DOID:1455 geographic tongue oboInOwl:hasDbXref MESH:D005929 semapv:UnspecifiedMatching DOID:1455 geographic tongue oboInOwl:hasDbXref NCI:C84588 semapv:UnspecifiedMatching -DOID:1455 geographic tongue oboInOwl:hasDbXref OMIM:137400 semapv:UnspecifiedMatching DOID:1455 geographic tongue oboInOwl:hasDbXref UMLS:C0017677 semapv:UnspecifiedMatching -DOID:1455 geographic tongue skos:exactMatch OMIM:137400 semapv:UnspecifiedMatching DOID:14550 root resorption oboInOwl:hasDbXref MESH:D012391 semapv:UnspecifiedMatching DOID:14550 root resorption oboInOwl:hasDbXref UMLS:C0035851 semapv:UnspecifiedMatching DOID:14555 Foster-Kennedy syndrome oboInOwl:hasDbXref ICD10CM:H47.14 semapv:UnspecifiedMatching @@ -24536,11 +14192,6 @@ DOID:14555 Foster-Kennedy syndrome oboInOwl:hasDbXref MESH:D009901 semapv:Unspec DOID:14555 Foster-Kennedy syndrome oboInOwl:hasDbXref UMLS:C0152112 semapv:UnspecifiedMatching DOID:14557 primary pulmonary hypertension oboInOwl:hasDbXref ICD10CM:I27.0 semapv:UnspecifiedMatching DOID:14557 primary pulmonary hypertension oboInOwl:hasDbXref ICD9CM:416.0 semapv:UnspecifiedMatching -DOID:14557 primary pulmonary hypertension oboInOwl:hasDbXref OMIM:178600 semapv:UnspecifiedMatching -DOID:14557 primary pulmonary hypertension oboInOwl:hasDbXref OMIM:265400 semapv:UnspecifiedMatching -DOID:14557 primary pulmonary hypertension oboInOwl:hasDbXref OMIM:615342 semapv:UnspecifiedMatching -DOID:14557 primary pulmonary hypertension oboInOwl:hasDbXref OMIM:615343 semapv:UnspecifiedMatching -DOID:14557 primary pulmonary hypertension oboInOwl:hasDbXref OMIM:615344 semapv:UnspecifiedMatching DOID:14557 primary pulmonary hypertension oboInOwl:hasDbXref ORDO:422 semapv:UnspecifiedMatching DOID:14557 primary pulmonary hypertension oboInOwl:hasDbXref UMLS:C0152171 semapv:UnspecifiedMatching DOID:14559 anaerobic meningitis oboInOwl:hasDbXref ICD9CM:320.81 semapv:UnspecifiedMatching @@ -24577,29 +14228,21 @@ DOID:14654 prostatitis oboInOwl:hasDbXref UMLS:C0033581 semapv:UnspecifiedMatchi DOID:14669 acrodysostosis oboInOwl:hasDbXref GARD:2015 semapv:UnspecifiedMatching DOID:14669 acrodysostosis oboInOwl:hasDbXref GARD:5724 semapv:UnspecifiedMatching DOID:14669 acrodysostosis oboInOwl:hasDbXref MESH:C538179 semapv:UnspecifiedMatching -DOID:14669 acrodysostosis oboInOwl:hasDbXref OMIM:101800 semapv:UnspecifiedMatching -DOID:14669 acrodysostosis oboInOwl:hasDbXref OMIM:614613 semapv:UnspecifiedMatching DOID:14669 acrodysostosis oboInOwl:hasDbXref ORDO:950 semapv:UnspecifiedMatching DOID:14669 acrodysostosis oboInOwl:hasDbXref UMLS:C0220659 semapv:UnspecifiedMatching DOID:1467 serous labyrinthitis oboInOwl:hasDbXref ICD9CM:386.31 semapv:UnspecifiedMatching DOID:1467 serous labyrinthitis oboInOwl:hasDbXref UMLS:C0155504 semapv:UnspecifiedMatching DOID:14670 hypertelorism, microtia, facial clefting syndrome oboInOwl:hasDbXref MESH:C537632 semapv:UnspecifiedMatching -DOID:14670 hypertelorism, microtia, facial clefting syndrome oboInOwl:hasDbXref OMIM:239800 semapv:UnspecifiedMatching DOID:14670 hypertelorism, microtia, facial clefting syndrome oboInOwl:hasDbXref ORDO:2213 semapv:UnspecifiedMatching DOID:14670 hypertelorism, microtia, facial clefting syndrome oboInOwl:hasDbXref UMLS:C0220742 semapv:UnspecifiedMatching -DOID:14670 hypertelorism, microtia, facial clefting syndrome skos:exactMatch OMIM:239800 semapv:UnspecifiedMatching DOID:14671 multiple intestinal atresia oboInOwl:hasDbXref GARD:3013 semapv:UnspecifiedMatching DOID:14671 multiple intestinal atresia oboInOwl:hasDbXref MEDDRA:10028210 semapv:UnspecifiedMatching DOID:14671 multiple intestinal atresia oboInOwl:hasDbXref MESH:C562441 semapv:UnspecifiedMatching -DOID:14671 multiple intestinal atresia oboInOwl:hasDbXref OMIM:243150 semapv:UnspecifiedMatching DOID:14671 multiple intestinal atresia oboInOwl:hasDbXref ORDO:2300 semapv:UnspecifiedMatching DOID:14671 multiple intestinal atresia oboInOwl:hasDbXref UMLS:C0220744 semapv:UnspecifiedMatching -DOID:14671 multiple intestinal atresia skos:exactMatch OMIM:243150 semapv:UnspecifiedMatching DOID:14679 VACTERL association oboInOwl:hasDbXref GARD:5443 semapv:UnspecifiedMatching DOID:14679 VACTERL association oboInOwl:hasDbXref ICD10CM:Q87.2 semapv:UnspecifiedMatching DOID:14679 VACTERL association oboInOwl:hasDbXref MESH:C536534 semapv:UnspecifiedMatching -DOID:14679 VACTERL association oboInOwl:hasDbXref OMIM:192350 semapv:UnspecifiedMatching -DOID:14679 VACTERL association oboInOwl:hasDbXref OMIM:276950 semapv:UnspecifiedMatching DOID:14679 VACTERL association oboInOwl:hasDbXref UMLS:C0220708 semapv:UnspecifiedMatching DOID:1468 labyrinthitis oboInOwl:hasDbXref ICD10CM:H83.0 semapv:UnspecifiedMatching DOID:1468 labyrinthitis oboInOwl:hasDbXref ICD9CM:386.3 semapv:UnspecifiedMatching @@ -24609,14 +14252,10 @@ DOID:14681 Silver-Russell syndrome oboInOwl:hasDbXref GARD:4870 semapv:Unspecifi DOID:14681 Silver-Russell syndrome oboInOwl:hasDbXref ICD10CM:Q87.19 semapv:UnspecifiedMatching DOID:14681 Silver-Russell syndrome oboInOwl:hasDbXref MESH:D056730 semapv:UnspecifiedMatching DOID:14681 Silver-Russell syndrome oboInOwl:hasDbXref NCI:C85068 semapv:UnspecifiedMatching -DOID:14681 Silver-Russell syndrome oboInOwl:hasDbXref OMIM:180860 semapv:UnspecifiedMatching DOID:14681 Silver-Russell syndrome oboInOwl:hasDbXref UMLS:C0175693 semapv:UnspecifiedMatching -DOID:14681 Silver-Russell syndrome skos:exactMatch OMIM:180860 semapv:UnspecifiedMatching DOID:14683 Binder syndrome oboInOwl:hasDbXref GARD:6992 semapv:UnspecifiedMatching DOID:14683 Binder syndrome oboInOwl:hasDbXref MESH:C536036 semapv:UnspecifiedMatching -DOID:14683 Binder syndrome oboInOwl:hasDbXref OMIM:155050 semapv:UnspecifiedMatching DOID:14683 Binder syndrome oboInOwl:hasDbXref UMLS:C0220692 semapv:UnspecifiedMatching -DOID:14683 Binder syndrome skos:exactMatch OMIM:155050 semapv:UnspecifiedMatching DOID:14686 Axenfeld-Rieger syndrome oboInOwl:hasDbXref GARD:5701 semapv:UnspecifiedMatching DOID:14686 Axenfeld-Rieger syndrome oboInOwl:hasDbXref ICD10CM:Q13.81 semapv:UnspecifiedMatching DOID:14686 Axenfeld-Rieger syndrome oboInOwl:hasDbXref MESH:C535679 semapv:UnspecifiedMatching @@ -24627,59 +14266,43 @@ DOID:14687 diastrophic dysplasia oboInOwl:hasDbXref GARD:6275 semapv:Unspecified DOID:14687 diastrophic dysplasia oboInOwl:hasDbXref ICD10CM:Q77.5 semapv:UnspecifiedMatching DOID:14687 diastrophic dysplasia oboInOwl:hasDbXref MESH:C536170 semapv:UnspecifiedMatching DOID:14687 diastrophic dysplasia oboInOwl:hasDbXref NCI:C156311 semapv:UnspecifiedMatching -DOID:14687 diastrophic dysplasia oboInOwl:hasDbXref OMIM:222600 semapv:UnspecifiedMatching DOID:14687 diastrophic dysplasia oboInOwl:hasDbXref UMLS:C0220726 semapv:UnspecifiedMatching -DOID:14687 diastrophic dysplasia skos:exactMatch OMIM:222600 semapv:UnspecifiedMatching DOID:14692 Smith-Lemli-Opitz syndrome oboInOwl:hasDbXref GARD:5683 semapv:UnspecifiedMatching DOID:14692 Smith-Lemli-Opitz syndrome oboInOwl:hasDbXref ICD10CM:E78.72 semapv:UnspecifiedMatching DOID:14692 Smith-Lemli-Opitz syndrome oboInOwl:hasDbXref MESH:D019082 semapv:UnspecifiedMatching DOID:14692 Smith-Lemli-Opitz syndrome oboInOwl:hasDbXref NCI:C85071 semapv:UnspecifiedMatching -DOID:14692 Smith-Lemli-Opitz syndrome oboInOwl:hasDbXref OMIM:270400 semapv:UnspecifiedMatching DOID:14692 Smith-Lemli-Opitz syndrome oboInOwl:hasDbXref UMLS:C0175694 semapv:UnspecifiedMatching -DOID:14692 Smith-Lemli-Opitz syndrome skos:exactMatch OMIM:270400 semapv:UnspecifiedMatching DOID:14693 Clouston syndrome oboInOwl:hasDbXref GARD:2056 semapv:UnspecifiedMatching DOID:14693 Clouston syndrome oboInOwl:hasDbXref MESH:D004476 semapv:UnspecifiedMatching -DOID:14693 Clouston syndrome oboInOwl:hasDbXref OMIM:129500 semapv:UnspecifiedMatching DOID:14693 Clouston syndrome oboInOwl:hasDbXref UMLS:C0162361 semapv:UnspecifiedMatching -DOID:14693 Clouston syndrome skos:exactMatch OMIM:129500 semapv:UnspecifiedMatching DOID:14694 Johanson-Blizzard syndrome oboInOwl:hasDbXref GARD:80 semapv:UnspecifiedMatching DOID:14694 Johanson-Blizzard syndrome oboInOwl:hasDbXref MESH:C535880 semapv:UnspecifiedMatching -DOID:14694 Johanson-Blizzard syndrome oboInOwl:hasDbXref OMIM:243800 semapv:UnspecifiedMatching DOID:14694 Johanson-Blizzard syndrome oboInOwl:hasDbXref ORDO:2315 semapv:UnspecifiedMatching DOID:14694 Johanson-Blizzard syndrome oboInOwl:hasDbXref UMLS:C0175692 semapv:UnspecifiedMatching -DOID:14694 Johanson-Blizzard syndrome skos:exactMatch OMIM:243800 semapv:UnspecifiedMatching DOID:14695 galactokinase deficiency oboInOwl:hasDbXref GARD:2422 semapv:UnspecifiedMatching DOID:14695 galactokinase deficiency oboInOwl:hasDbXref ICD10CM:E74.29 semapv:UnspecifiedMatching DOID:14695 galactokinase deficiency oboInOwl:hasDbXref MESH:D005693 semapv:UnspecifiedMatching DOID:14695 galactokinase deficiency oboInOwl:hasDbXref NCI:C114767 semapv:UnspecifiedMatching -DOID:14695 galactokinase deficiency oboInOwl:hasDbXref OMIM:230200 semapv:UnspecifiedMatching DOID:14695 galactokinase deficiency oboInOwl:hasDbXref UMLS:C0268155 semapv:UnspecifiedMatching -DOID:14695 galactokinase deficiency skos:exactMatch OMIM:230200 semapv:UnspecifiedMatching DOID:14699 thrombocytopenia-absent radius syndrome oboInOwl:hasDbXref ICD10CM:Q87.2 semapv:UnspecifiedMatching DOID:14699 thrombocytopenia-absent radius syndrome oboInOwl:hasDbXref MESH:C536940 semapv:UnspecifiedMatching DOID:14699 thrombocytopenia-absent radius syndrome oboInOwl:hasDbXref NCI:C99038 semapv:UnspecifiedMatching -DOID:14699 thrombocytopenia-absent radius syndrome oboInOwl:hasDbXref OMIM:274000 semapv:UnspecifiedMatching DOID:14699 thrombocytopenia-absent radius syndrome oboInOwl:hasDbXref ORDO:3320 semapv:UnspecifiedMatching DOID:14699 thrombocytopenia-absent radius syndrome oboInOwl:hasDbXref UMLS:C0175703 semapv:UnspecifiedMatching -DOID:14699 thrombocytopenia-absent radius syndrome skos:exactMatch OMIM:274000 semapv:UnspecifiedMatching DOID:1470 major depressive disorder oboInOwl:hasDbXref EFO:0003761 semapv:UnspecifiedMatching DOID:1470 major depressive disorder oboInOwl:hasDbXref ICD10CM:F32 semapv:UnspecifiedMatching DOID:1470 major depressive disorder oboInOwl:hasDbXref ICD10CM:F33.9 semapv:UnspecifiedMatching DOID:1470 major depressive disorder oboInOwl:hasDbXref ICD9CM:296.2 semapv:UnspecifiedMatching DOID:1470 major depressive disorder oboInOwl:hasDbXref ICD9CM:296.3 semapv:UnspecifiedMatching DOID:1470 major depressive disorder oboInOwl:hasDbXref NCI:C34796 semapv:UnspecifiedMatching -DOID:1470 major depressive disorder oboInOwl:hasDbXref OMIM:608520 semapv:UnspecifiedMatching -DOID:1470 major depressive disorder oboInOwl:hasDbXref OMIM:608691 semapv:UnspecifiedMatching DOID:1470 major depressive disorder oboInOwl:hasDbXref UMLS:C0024517 semapv:UnspecifiedMatching DOID:1470 major depressive disorder oboInOwl:hasDbXref UMLS:C0154409 semapv:UnspecifiedMatching DOID:14701 propionic acidemia oboInOwl:hasDbXref GARD:467 semapv:UnspecifiedMatching DOID:14701 propionic acidemia oboInOwl:hasDbXref ICD10CM:E71.121 semapv:UnspecifiedMatching DOID:14701 propionic acidemia oboInOwl:hasDbXref MESH:D056693 semapv:UnspecifiedMatching DOID:14701 propionic acidemia oboInOwl:hasDbXref NCI:C85030 semapv:UnspecifiedMatching -DOID:14701 propionic acidemia oboInOwl:hasDbXref OMIM:606054 semapv:UnspecifiedMatching DOID:14701 propionic acidemia oboInOwl:hasDbXref UMLS:C0268579 semapv:UnspecifiedMatching DOID:14701 propionic acidemia oboInOwl:hasDbXref UMLS:C2717876 semapv:UnspecifiedMatching -DOID:14701 propionic acidemia skos:exactMatch OMIM:606054 semapv:UnspecifiedMatching DOID:14702 branchiootorenal syndrome oboInOwl:hasDbXref GARD:10147 semapv:UnspecifiedMatching DOID:14702 branchiootorenal syndrome oboInOwl:hasDbXref MEDDRA:10071135 semapv:UnspecifiedMatching DOID:14702 branchiootorenal syndrome oboInOwl:hasDbXref MESH:D019280 semapv:UnspecifiedMatching @@ -24688,17 +14311,10 @@ DOID:14702 branchiootorenal syndrome oboInOwl:hasDbXref UMLS:C0265234 semapv:Uns DOID:14705 Pfeiffer syndrome oboInOwl:hasDbXref GARD:7380 semapv:UnspecifiedMatching DOID:14705 Pfeiffer syndrome oboInOwl:hasDbXref MESH:D000168 semapv:UnspecifiedMatching DOID:14705 Pfeiffer syndrome oboInOwl:hasDbXref NCI:C99100 semapv:UnspecifiedMatching -DOID:14705 Pfeiffer syndrome oboInOwl:hasDbXref OMIM:101600 semapv:UnspecifiedMatching DOID:14705 Pfeiffer syndrome oboInOwl:hasDbXref ORDO:710 semapv:UnspecifiedMatching DOID:14705 Pfeiffer syndrome oboInOwl:hasDbXref UMLS:C0220658 semapv:UnspecifiedMatching -DOID:14705 Pfeiffer syndrome skos:exactMatch OMIM:101600 semapv:UnspecifiedMatching DOID:14711 FG syndrome oboInOwl:hasDbXref GARD:2317 semapv:UnspecifiedMatching DOID:14711 FG syndrome oboInOwl:hasDbXref MESH:C537923 semapv:UnspecifiedMatching -DOID:14711 FG syndrome oboInOwl:hasDbXref OMIM:300321 semapv:UnspecifiedMatching -DOID:14711 FG syndrome oboInOwl:hasDbXref OMIM:300406 semapv:UnspecifiedMatching -DOID:14711 FG syndrome oboInOwl:hasDbXref OMIM:300422 semapv:UnspecifiedMatching -DOID:14711 FG syndrome oboInOwl:hasDbXref OMIM:300581 semapv:UnspecifiedMatching -DOID:14711 FG syndrome oboInOwl:hasDbXref OMIM:305450 semapv:UnspecifiedMatching DOID:14711 FG syndrome oboInOwl:hasDbXref ORDO:323 semapv:UnspecifiedMatching DOID:14711 FG syndrome oboInOwl:hasDbXref ORDO:93932 semapv:UnspecifiedMatching DOID:14711 FG syndrome oboInOwl:hasDbXref UMLS:C0220769 semapv:UnspecifiedMatching @@ -24713,67 +14329,46 @@ DOID:14717 centronuclear myopathy oboInOwl:hasDbXref ORDO:69189 semapv:Unspecifi DOID:14717 centronuclear myopathy oboInOwl:hasDbXref UMLS:C0175709 semapv:UnspecifiedMatching DOID:14720 Ehlers-Danlos syndrome classic type 1 oboInOwl:hasDbXref MESH:C536194 semapv:UnspecifiedMatching DOID:14720 Ehlers-Danlos syndrome classic type 1 oboInOwl:hasDbXref NCI:C125696 semapv:UnspecifiedMatching -DOID:14720 Ehlers-Danlos syndrome classic type 1 oboInOwl:hasDbXref OMIM:130000 semapv:UnspecifiedMatching DOID:14720 Ehlers-Danlos syndrome classic type 1 oboInOwl:hasDbXref UMLS:C0268335 semapv:UnspecifiedMatching -DOID:14720 Ehlers-Danlos syndrome classic type 1 skos:exactMatch OMIM:130000 semapv:UnspecifiedMatching DOID:14723 beta-ketothiolase deficiency oboInOwl:hasDbXref GARD:872 semapv:UnspecifiedMatching DOID:14723 beta-ketothiolase deficiency oboInOwl:hasDbXref MESH:C535818 semapv:UnspecifiedMatching -DOID:14723 beta-ketothiolase deficiency oboInOwl:hasDbXref OMIM:203750 semapv:UnspecifiedMatching DOID:14723 beta-ketothiolase deficiency oboInOwl:hasDbXref ORDO:134 semapv:UnspecifiedMatching DOID:14723 beta-ketothiolase deficiency oboInOwl:hasDbXref UMLS:C1533628 semapv:UnspecifiedMatching -DOID:14723 beta-ketothiolase deficiency skos:exactMatch OMIM:203750 semapv:UnspecifiedMatching DOID:14725 autosomal dominant microcephaly oboInOwl:hasDbXref MESH:C537323 semapv:UnspecifiedMatching -DOID:14725 autosomal dominant microcephaly oboInOwl:hasDbXref OMIM:156580 semapv:UnspecifiedMatching DOID:14725 autosomal dominant microcephaly oboInOwl:hasDbXref UMLS:C0220693 semapv:UnspecifiedMatching -DOID:14725 autosomal dominant microcephaly skos:exactMatch OMIM:156580 semapv:UnspecifiedMatching DOID:14731 Weaver syndrome oboInOwl:hasDbXref GARD:5545 semapv:UnspecifiedMatching DOID:14731 Weaver syndrome oboInOwl:hasDbXref GARD:7878 semapv:UnspecifiedMatching DOID:14731 Weaver syndrome oboInOwl:hasDbXref MESH:C562443 semapv:UnspecifiedMatching -DOID:14731 Weaver syndrome oboInOwl:hasDbXref OMIM:277590 semapv:UnspecifiedMatching DOID:14731 Weaver syndrome oboInOwl:hasDbXref UMLS:C0220765 semapv:UnspecifiedMatching -DOID:14731 Weaver syndrome skos:exactMatch OMIM:277590 semapv:UnspecifiedMatching DOID:14735 hereditary angioedema oboInOwl:hasDbXref GARD:5979 semapv:UnspecifiedMatching DOID:14735 hereditary angioedema oboInOwl:hasDbXref MESH:D054179 semapv:UnspecifiedMatching DOID:14735 hereditary angioedema oboInOwl:hasDbXref NCI:C84758 semapv:UnspecifiedMatching -DOID:14735 hereditary angioedema oboInOwl:hasDbXref OMIMPS:106100 semapv:UnspecifiedMatching DOID:14735 hereditary angioedema oboInOwl:hasDbXref ORDO:91378 semapv:UnspecifiedMatching DOID:14735 hereditary angioedema oboInOwl:hasDbXref UMLS:C0019243 semapv:UnspecifiedMatching DOID:14735 hereditary angioedema skos:exactMatch MESH:D054179 semapv:UnspecifiedMatching -DOID:14735 hereditary angioedema skos:exactMatch OMIM:PS106100 semapv:UnspecifiedMatching -DOID:14735 hereditary angioedema skos:exactMatch OMIMPS:106100 semapv:UnspecifiedMatching DOID:14735 hereditary angioedema skos:exactMatch ORDO:91378 semapv:UnspecifiedMatching DOID:14737 craniofrontonasal syndrome oboInOwl:hasDbXref GARD:1578 semapv:UnspecifiedMatching DOID:14737 craniofrontonasal syndrome oboInOwl:hasDbXref MESH:C536456 semapv:UnspecifiedMatching -DOID:14737 craniofrontonasal syndrome oboInOwl:hasDbXref OMIM:304110 semapv:UnspecifiedMatching DOID:14737 craniofrontonasal syndrome oboInOwl:hasDbXref ORDO:1520 semapv:UnspecifiedMatching DOID:14737 craniofrontonasal syndrome oboInOwl:hasDbXref UMLS:C0220767 semapv:UnspecifiedMatching -DOID:14737 craniofrontonasal syndrome skos:exactMatch OMIM:304110 semapv:UnspecifiedMatching DOID:1474 aggressive periodontitis oboInOwl:hasDbXref ICD10CM:K05.2 semapv:UnspecifiedMatching DOID:1474 aggressive periodontitis oboInOwl:hasDbXref MESH:D010520 semapv:UnspecifiedMatching -DOID:1474 aggressive periodontitis oboInOwl:hasDbXref OMIM:170650 semapv:UnspecifiedMatching -DOID:1474 aggressive periodontitis oboInOwl:hasDbXref OMIM:608526 semapv:UnspecifiedMatching DOID:1474 aggressive periodontitis oboInOwl:hasDbXref UMLS:C0031106 semapv:UnspecifiedMatching DOID:1474 aggressive periodontitis skos:exactMatch MESH:D010520 semapv:UnspecifiedMatching DOID:14743 trichorhinophalangeal syndrome type I oboInOwl:hasDbXref MESH:C536820 semapv:UnspecifiedMatching DOID:14743 trichorhinophalangeal syndrome type I oboInOwl:hasDbXref NCI:C75109 semapv:UnspecifiedMatching -DOID:14743 trichorhinophalangeal syndrome type I oboInOwl:hasDbXref OMIM:190350 semapv:UnspecifiedMatching DOID:14743 trichorhinophalangeal syndrome type I oboInOwl:hasDbXref ORDO:77258 semapv:UnspecifiedMatching DOID:14743 trichorhinophalangeal syndrome type I oboInOwl:hasDbXref UMLS:C0432233 semapv:UnspecifiedMatching -DOID:14743 trichorhinophalangeal syndrome type I skos:exactMatch OMIM:190350 semapv:UnspecifiedMatching DOID:14744 Partington syndrome oboInOwl:hasDbXref GARD:4235 semapv:UnspecifiedMatching DOID:14744 Partington syndrome oboInOwl:hasDbXref MESH:C562446 semapv:UnspecifiedMatching -DOID:14744 Partington syndrome oboInOwl:hasDbXref OMIM:309510 semapv:UnspecifiedMatching DOID:14744 Partington syndrome oboInOwl:hasDbXref ORDO:94083 semapv:UnspecifiedMatching DOID:14744 Partington syndrome oboInOwl:hasDbXref UMLS:C0220775 semapv:UnspecifiedMatching -DOID:14744 Partington syndrome skos:exactMatch OMIM:309510 semapv:UnspecifiedMatching DOID:14748 Sotos syndrome oboInOwl:hasDbXref GARD:10091 semapv:UnspecifiedMatching DOID:14748 Sotos syndrome oboInOwl:hasDbXref ICD10CM:Q87.3 semapv:UnspecifiedMatching DOID:14748 Sotos syndrome oboInOwl:hasDbXref MESH:D058495 semapv:UnspecifiedMatching DOID:14748 Sotos syndrome oboInOwl:hasDbXref NCI:C75019 semapv:UnspecifiedMatching -DOID:14748 Sotos syndrome oboInOwl:hasDbXref OMIMPS:117550 semapv:UnspecifiedMatching DOID:14748 Sotos syndrome oboInOwl:hasDbXref ORDO:821 semapv:UnspecifiedMatching DOID:14748 Sotos syndrome oboInOwl:hasDbXref UMLS:C0175695 semapv:UnspecifiedMatching -DOID:14748 Sotos syndrome skos:exactMatch OMIMPS:117550 semapv:UnspecifiedMatching DOID:14749 methylmalonic acidemia oboInOwl:hasDbXref GARD:7033 semapv:UnspecifiedMatching DOID:14749 methylmalonic acidemia oboInOwl:hasDbXref MESH:C537358 semapv:UnspecifiedMatching DOID:1475 lymphangioma oboInOwl:hasDbXref GARD:9789 semapv:UnspecifiedMatching @@ -24787,92 +14382,62 @@ DOID:14753 isovaleric acidemia oboInOwl:hasDbXref GARD:465 semapv:UnspecifiedMat DOID:14753 isovaleric acidemia oboInOwl:hasDbXref ICD10CM:E71.110 semapv:UnspecifiedMatching DOID:14753 isovaleric acidemia oboInOwl:hasDbXref MESH:C538167 semapv:UnspecifiedMatching DOID:14753 isovaleric acidemia oboInOwl:hasDbXref NCI:C98964 semapv:UnspecifiedMatching -DOID:14753 isovaleric acidemia oboInOwl:hasDbXref OMIM:243500 semapv:UnspecifiedMatching DOID:14753 isovaleric acidemia oboInOwl:hasDbXref UMLS:C0268575 semapv:UnspecifiedMatching -DOID:14753 isovaleric acidemia skos:exactMatch OMIM:243500 semapv:UnspecifiedMatching DOID:14755 argininosuccinic aciduria oboInOwl:hasDbXref GARD:5843 semapv:UnspecifiedMatching DOID:14755 argininosuccinic aciduria oboInOwl:hasDbXref MESH:D056807 semapv:UnspecifiedMatching DOID:14755 argininosuccinic aciduria oboInOwl:hasDbXref NCI:C84569 semapv:UnspecifiedMatching -DOID:14755 argininosuccinic aciduria oboInOwl:hasDbXref OMIM:207900 semapv:UnspecifiedMatching DOID:14755 argininosuccinic aciduria oboInOwl:hasDbXref UMLS:C0268547 semapv:UnspecifiedMatching -DOID:14755 argininosuccinic aciduria skos:exactMatch OMIM:207900 semapv:UnspecifiedMatching DOID:14756 vascular type Ehlers-Danlos syndrome oboInOwl:hasDbXref GARD:2082 semapv:UnspecifiedMatching DOID:14756 vascular type Ehlers-Danlos syndrome oboInOwl:hasDbXref NCI:C125699 semapv:UnspecifiedMatching -DOID:14756 vascular type Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:130050 semapv:UnspecifiedMatching DOID:14756 vascular type Ehlers-Danlos syndrome oboInOwl:hasDbXref ORDO:286 semapv:UnspecifiedMatching -DOID:14756 vascular type Ehlers-Danlos syndrome skos:exactMatch OMIM:130050 semapv:UnspecifiedMatching DOID:14757 Ehlers-Danlos syndrome hypermobility type oboInOwl:hasDbXref GARD:2081 semapv:UnspecifiedMatching DOID:14757 Ehlers-Danlos syndrome hypermobility type oboInOwl:hasDbXref ICD10CM:Q79.62 semapv:UnspecifiedMatching DOID:14757 Ehlers-Danlos syndrome hypermobility type oboInOwl:hasDbXref MESH:C536196 semapv:UnspecifiedMatching DOID:14757 Ehlers-Danlos syndrome hypermobility type oboInOwl:hasDbXref NCI:C125698 semapv:UnspecifiedMatching -DOID:14757 Ehlers-Danlos syndrome hypermobility type oboInOwl:hasDbXref OMIM:130020 semapv:UnspecifiedMatching DOID:14757 Ehlers-Danlos syndrome hypermobility type oboInOwl:hasDbXref UMLS:C0268337 semapv:UnspecifiedMatching -DOID:14757 Ehlers-Danlos syndrome hypermobility type skos:exactMatch OMIM:130020 semapv:UnspecifiedMatching DOID:14759 autosomal recessive type IV Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS:C0268340 semapv:UnspecifiedMatching DOID:14761 Greig cephalopolysyndactyly syndrome oboInOwl:hasDbXref GARD:6550 semapv:UnspecifiedMatching DOID:14761 Greig cephalopolysyndactyly syndrome oboInOwl:hasDbXref MESH:C537300 semapv:UnspecifiedMatching DOID:14761 Greig cephalopolysyndactyly syndrome oboInOwl:hasDbXref NCI:C35255 semapv:UnspecifiedMatching -DOID:14761 Greig cephalopolysyndactyly syndrome oboInOwl:hasDbXref OMIM:175700 semapv:UnspecifiedMatching DOID:14761 Greig cephalopolysyndactyly syndrome oboInOwl:hasDbXref UMLS:C0265306 semapv:UnspecifiedMatching -DOID:14761 Greig cephalopolysyndactyly syndrome skos:exactMatch OMIM:175700 semapv:UnspecifiedMatching -DOID:14762 calcaneonavicular coalition oboInOwl:hasDbXref OMIM:186400 semapv:UnspecifiedMatching DOID:14762 calcaneonavicular coalition oboInOwl:hasDbXref UMLS:C0175700 semapv:UnspecifiedMatching -DOID:14762 calcaneonavicular coalition skos:exactMatch OMIM:186400 semapv:UnspecifiedMatching DOID:14764 Larsen syndrome oboInOwl:hasDbXref GARD:6860 semapv:UnspecifiedMatching DOID:14764 Larsen syndrome oboInOwl:hasDbXref MESH:C580241 semapv:UnspecifiedMatching -DOID:14764 Larsen syndrome oboInOwl:hasDbXref OMIM:150250 semapv:UnspecifiedMatching -DOID:14764 Larsen syndrome skos:exactMatch OMIM:150250 semapv:UnspecifiedMatching DOID:14766 renal agenesis oboInOwl:hasDbXref GARD:9228 semapv:UnspecifiedMatching DOID:14766 renal agenesis oboInOwl:hasDbXref MESH:C563261 semapv:UnspecifiedMatching -DOID:14766 renal agenesis oboInOwl:hasDbXref OMIM:191830 semapv:UnspecifiedMatching DOID:14766 renal agenesis oboInOwl:hasDbXref ORDO:93108 semapv:UnspecifiedMatching -DOID:14766 renal agenesis skos:exactMatch OMIM:191830 semapv:UnspecifiedMatching DOID:14768 Saethre-Chotzen syndrome oboInOwl:hasDbXref GARD:7598 semapv:UnspecifiedMatching DOID:14768 Saethre-Chotzen syndrome oboInOwl:hasDbXref MESH:D000168 semapv:UnspecifiedMatching DOID:14768 Saethre-Chotzen syndrome oboInOwl:hasDbXref NCI:C75034 semapv:UnspecifiedMatching -DOID:14768 Saethre-Chotzen syndrome oboInOwl:hasDbXref OMIM:101400 semapv:UnspecifiedMatching -DOID:14768 Saethre-Chotzen syndrome oboInOwl:hasDbXref OMIM:180750 semapv:UnspecifiedMatching DOID:14768 Saethre-Chotzen syndrome oboInOwl:hasDbXref ORDO:794 semapv:UnspecifiedMatching DOID:14768 Saethre-Chotzen syndrome oboInOwl:hasDbXref UMLS:C0175699 semapv:UnspecifiedMatching DOID:14773 cartilage-hair hypoplasia oboInOwl:hasDbXref MESH:C535916 semapv:UnspecifiedMatching DOID:14773 cartilage-hair hypoplasia oboInOwl:hasDbXref NCI:C61245 semapv:UnspecifiedMatching -DOID:14773 cartilage-hair hypoplasia oboInOwl:hasDbXref OMIM:250250 semapv:UnspecifiedMatching DOID:14773 cartilage-hair hypoplasia oboInOwl:hasDbXref UMLS:C0220748 semapv:UnspecifiedMatching -DOID:14773 cartilage-hair hypoplasia skos:exactMatch OMIM:250250 semapv:UnspecifiedMatching DOID:14775 brittle cornea syndrome 1 oboInOwl:hasDbXref GARD:1019 semapv:UnspecifiedMatching DOID:14775 brittle cornea syndrome 1 oboInOwl:hasDbXref MESH:C536198 semapv:UnspecifiedMatching DOID:14775 brittle cornea syndrome 1 oboInOwl:hasDbXref NCI:C125700 semapv:UnspecifiedMatching -DOID:14775 brittle cornea syndrome 1 oboInOwl:hasDbXref OMIM:229200 semapv:UnspecifiedMatching DOID:14775 brittle cornea syndrome 1 oboInOwl:hasDbXref UMLS:C0268342 semapv:UnspecifiedMatching -DOID:14775 brittle cornea syndrome 1 skos:exactMatch OMIM:229200 semapv:UnspecifiedMatching DOID:14777 benign familial neonatal epilepsy oboInOwl:hasDbXref GARD:2159 semapv:UnspecifiedMatching DOID:14777 benign familial neonatal epilepsy oboInOwl:hasDbXref MESH:D020936 semapv:UnspecifiedMatching DOID:14777 benign familial neonatal epilepsy oboInOwl:hasDbXref ORDO:1949 semapv:UnspecifiedMatching DOID:14777 benign familial neonatal epilepsy oboInOwl:hasDbXref UMLS:C0220669 semapv:UnspecifiedMatching DOID:14778 blepharophimosis, ptosis, and epicanthus inversus syndrome oboInOwl:hasDbXref MESH:C562419 semapv:UnspecifiedMatching -DOID:14778 blepharophimosis, ptosis, and epicanthus inversus syndrome oboInOwl:hasDbXref OMIM:110100 semapv:UnspecifiedMatching DOID:14778 blepharophimosis, ptosis, and epicanthus inversus syndrome oboInOwl:hasDbXref UMLS:C0220663 semapv:UnspecifiedMatching -DOID:14778 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:exactMatch OMIM:110100 semapv:UnspecifiedMatching DOID:14780 KBG syndrome oboInOwl:hasDbXref GARD:82 semapv:UnspecifiedMatching DOID:14780 KBG syndrome oboInOwl:hasDbXref MESH:C537015 semapv:UnspecifiedMatching -DOID:14780 KBG syndrome oboInOwl:hasDbXref OMIM:148050 semapv:UnspecifiedMatching DOID:14780 KBG syndrome oboInOwl:hasDbXref ORDO:2332 semapv:UnspecifiedMatching DOID:14780 KBG syndrome oboInOwl:hasDbXref UMLS:C0220687 semapv:UnspecifiedMatching -DOID:14780 KBG syndrome skos:exactMatch OMIM:148050 semapv:UnspecifiedMatching DOID:14784 olivopontocerebellar atrophy oboInOwl:hasDbXref MESH:D009849 semapv:UnspecifiedMatching DOID:14784 olivopontocerebellar atrophy oboInOwl:hasDbXref NCI:C84947 semapv:UnspecifiedMatching DOID:14784 olivopontocerebellar atrophy oboInOwl:hasDbXref UMLS:C0028968 semapv:UnspecifiedMatching DOID:14789 spondyloepiphyseal dysplasia congenita oboInOwl:hasDbXref GARD:4987 semapv:UnspecifiedMatching DOID:14789 spondyloepiphyseal dysplasia congenita oboInOwl:hasDbXref MESH:C535788 semapv:UnspecifiedMatching -DOID:14789 spondyloepiphyseal dysplasia congenita oboInOwl:hasDbXref OMIM:183900 semapv:UnspecifiedMatching -DOID:14789 spondyloepiphyseal dysplasia congenita skos:exactMatch OMIM:183900 semapv:UnspecifiedMatching DOID:14791 Leber congenital amaurosis oboInOwl:hasDbXref GARD:634 semapv:UnspecifiedMatching DOID:14791 Leber congenital amaurosis oboInOwl:hasDbXref MESH:D057130 semapv:UnspecifiedMatching DOID:14791 Leber congenital amaurosis oboInOwl:hasDbXref NCI:C129075 semapv:UnspecifiedMatching -DOID:14791 Leber congenital amaurosis oboInOwl:hasDbXref OMIMPS:204000 semapv:UnspecifiedMatching DOID:14791 Leber congenital amaurosis oboInOwl:hasDbXref ORDO:65 semapv:UnspecifiedMatching DOID:14791 Leber congenital amaurosis oboInOwl:hasDbXref UMLS:C0339527 semapv:UnspecifiedMatching -DOID:14791 Leber congenital amaurosis skos:exactMatch OMIMPS:204000 semapv:UnspecifiedMatching DOID:14793 hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref GARD:76 semapv:UnspecifiedMatching DOID:14793 hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref MESH:D053358 semapv:UnspecifiedMatching DOID:14793 hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref NCI:C84562 semapv:UnspecifiedMatching @@ -24883,12 +14448,8 @@ DOID:14796 Dubowitz syndrome oboInOwl:hasDbXref ICD10CM:Q87.19 semapv:Unspecifie DOID:14796 Dubowitz syndrome oboInOwl:hasDbXref MEDDRA:10059589 semapv:UnspecifiedMatching DOID:14796 Dubowitz syndrome oboInOwl:hasDbXref MESH:C535718 semapv:UnspecifiedMatching DOID:14796 Dubowitz syndrome oboInOwl:hasDbXref NCI:C125591 semapv:UnspecifiedMatching -DOID:14796 Dubowitz syndrome oboInOwl:hasDbXref OMIM:223370 semapv:UnspecifiedMatching DOID:14796 Dubowitz syndrome oboInOwl:hasDbXref UMLS:C0175691 semapv:UnspecifiedMatching -DOID:14796 Dubowitz syndrome skos:exactMatch OMIM:223370 semapv:UnspecifiedMatching DOID:14798 Blount's disease oboInOwl:hasDbXref GARD:916 semapv:UnspecifiedMatching -DOID:14798 Blount's disease oboInOwl:hasDbXref OMIM:188700 semapv:UnspecifiedMatching -DOID:14798 Blount's disease oboInOwl:hasDbXref OMIM:259200 semapv:UnspecifiedMatching DOID:14798 Blount's disease oboInOwl:hasDbXref UMLS:C0220757 semapv:UnspecifiedMatching DOID:1483 gingival disease oboInOwl:hasDbXref MESH:D005882 semapv:UnspecifiedMatching DOID:1483 gingival disease oboInOwl:hasDbXref NCI:C173795 semapv:UnspecifiedMatching @@ -24898,11 +14459,9 @@ DOID:1485 cystic fibrosis oboInOwl:hasDbXref ICD10CM:E84 semapv:UnspecifiedMatch DOID:1485 cystic fibrosis oboInOwl:hasDbXref ICD9CM:277.0 semapv:UnspecifiedMatching DOID:1485 cystic fibrosis oboInOwl:hasDbXref MESH:D003550 semapv:UnspecifiedMatching DOID:1485 cystic fibrosis oboInOwl:hasDbXref NCI:C2975 semapv:UnspecifiedMatching -DOID:1485 cystic fibrosis oboInOwl:hasDbXref OMIM:219700 semapv:UnspecifiedMatching DOID:1485 cystic fibrosis oboInOwl:hasDbXref ORDO:586 semapv:UnspecifiedMatching DOID:1485 cystic fibrosis oboInOwl:hasDbXref UMLS:C0010674 semapv:UnspecifiedMatching DOID:1485 cystic fibrosis skos:exactMatch MESH:D003550 semapv:UnspecifiedMatching -DOID:1485 cystic fibrosis skos:exactMatch OMIM:219700 semapv:UnspecifiedMatching DOID:1492 obsolete eye and adnexa disease oboInOwl:hasDbXref ICD10CM:H35.00 semapv:UnspecifiedMatching DOID:1492 obsolete eye and adnexa disease oboInOwl:hasDbXref ICD9CM:362.10 semapv:UnspecifiedMatching DOID:1492 obsolete eye and adnexa disease oboInOwl:hasDbXref UMLS:C0004608 semapv:UnspecifiedMatching @@ -24986,20 +14545,16 @@ DOID:1540 parathyroid carcinoma oboInOwl:hasDbXref MESH:D010282 semapv:Unspecifi DOID:1540 parathyroid carcinoma oboInOwl:hasDbXref NCI:C3313 semapv:UnspecifiedMatching DOID:1540 parathyroid carcinoma oboInOwl:hasDbXref NCI:C4906 semapv:UnspecifiedMatching DOID:1540 parathyroid carcinoma oboInOwl:hasDbXref NCI:C9322 semapv:UnspecifiedMatching -DOID:1540 parathyroid carcinoma oboInOwl:hasDbXref OMIM:608266 semapv:UnspecifiedMatching DOID:1540 parathyroid carcinoma oboInOwl:hasDbXref UMLS:C0030521 semapv:UnspecifiedMatching DOID:1540 parathyroid carcinoma oboInOwl:hasDbXref UMLS:C0153653 semapv:UnspecifiedMatching DOID:1540 parathyroid carcinoma oboInOwl:hasDbXref UMLS:C0687150 semapv:UnspecifiedMatching -DOID:1540 parathyroid carcinoma skos:exactMatch OMIM:608266 semapv:UnspecifiedMatching DOID:1542 head and neck carcinoma oboInOwl:hasDbXref NCI:C6077 semapv:UnspecifiedMatching DOID:1542 head and neck carcinoma oboInOwl:hasDbXref UMLS:C1334927 semapv:UnspecifiedMatching DOID:1554 vibratory urticaria oboInOwl:hasDbXref GARD:9806 semapv:UnspecifiedMatching DOID:1554 vibratory urticaria oboInOwl:hasDbXref ICD10CM:L50.4 semapv:UnspecifiedMatching DOID:1554 vibratory urticaria oboInOwl:hasDbXref ICD9CM:708.4 semapv:UnspecifiedMatching DOID:1554 vibratory urticaria oboInOwl:hasDbXref MESH:D000094482 semapv:UnspecifiedMatching -DOID:1554 vibratory urticaria oboInOwl:hasDbXref OMIM:125630 semapv:UnspecifiedMatching DOID:1554 vibratory urticaria oboInOwl:hasDbXref UMLS:C0157743 semapv:UnspecifiedMatching -DOID:1554 vibratory urticaria skos:exactMatch OMIM:125630 semapv:UnspecifiedMatching DOID:1555 urticaria oboInOwl:hasDbXref ICD9CM:708.8 semapv:UnspecifiedMatching DOID:1555 urticaria oboInOwl:hasDbXref UMLS:C0029839 semapv:UnspecifiedMatching DOID:1556 arthus reaction oboInOwl:hasDbXref ICD10CM:T78.41 semapv:UnspecifiedMatching @@ -25040,9 +14595,7 @@ DOID:1571 spastic ectropion oboInOwl:hasDbXref ICD9CM:374.13 semapv:UnspecifiedM DOID:1571 spastic ectropion oboInOwl:hasDbXref UMLS:C0155195 semapv:UnspecifiedMatching DOID:1572 normal pressure hydrocephalus oboInOwl:hasDbXref ICD10CM:G91.2 semapv:UnspecifiedMatching DOID:1572 normal pressure hydrocephalus oboInOwl:hasDbXref MESH:D006850 semapv:UnspecifiedMatching -DOID:1572 normal pressure hydrocephalus oboInOwl:hasDbXref OMIM:236690 semapv:UnspecifiedMatching DOID:1572 normal pressure hydrocephalus oboInOwl:hasDbXref UMLS:C0020258 semapv:UnspecifiedMatching -DOID:1572 normal pressure hydrocephalus skos:exactMatch OMIM:236690 semapv:UnspecifiedMatching DOID:1573 communicating hydrocephalus oboInOwl:hasDbXref ICD10CM:G91.0 semapv:UnspecifiedMatching DOID:1573 communicating hydrocephalus oboInOwl:hasDbXref ICD9CM:331.3 semapv:UnspecifiedMatching DOID:1573 communicating hydrocephalus oboInOwl:hasDbXref MESH:D006849 semapv:UnspecifiedMatching @@ -25089,11 +14642,6 @@ DOID:1587 thrombocytopenia due to platelet alloimmunization oboInOwl:hasDbXref U DOID:1588 thrombocytopenia oboInOwl:hasDbXref ICD10CM:D69.6 semapv:UnspecifiedMatching DOID:1588 thrombocytopenia oboInOwl:hasDbXref ICD9CM:287.5 semapv:UnspecifiedMatching DOID:1588 thrombocytopenia oboInOwl:hasDbXref MESH:D013921 semapv:UnspecifiedMatching -DOID:1588 thrombocytopenia oboInOwl:hasDbXref OMIM:188000 semapv:UnspecifiedMatching -DOID:1588 thrombocytopenia oboInOwl:hasDbXref OMIM:273900 semapv:UnspecifiedMatching -DOID:1588 thrombocytopenia oboInOwl:hasDbXref OMIM:300367 semapv:UnspecifiedMatching -DOID:1588 thrombocytopenia oboInOwl:hasDbXref OMIM:313900 semapv:UnspecifiedMatching -DOID:1588 thrombocytopenia oboInOwl:hasDbXref OMIM:612004 semapv:UnspecifiedMatching DOID:1588 thrombocytopenia oboInOwl:hasDbXref ORDO:852 semapv:UnspecifiedMatching DOID:1588 thrombocytopenia oboInOwl:hasDbXref UMLS:C0040034 semapv:UnspecifiedMatching DOID:1591 renovascular hypertension oboInOwl:hasDbXref ICD10CM:I15.0 semapv:UnspecifiedMatching @@ -25103,10 +14651,8 @@ DOID:1591 renovascular hypertension oboInOwl:hasDbXref UMLS:C0020545 semapv:Unsp DOID:1595 melancholic depression oboInOwl:hasDbXref MESH:D003866 semapv:UnspecifiedMatching DOID:1595 melancholic depression oboInOwl:hasDbXref NCI:C34532 semapv:UnspecifiedMatching DOID:1595 melancholic depression oboInOwl:hasDbXref NCI:C35094 semapv:UnspecifiedMatching -DOID:1595 melancholic depression oboInOwl:hasDbXref OMIM:608516 semapv:UnspecifiedMatching DOID:1595 melancholic depression oboInOwl:hasDbXref UMLS:C0011573 semapv:UnspecifiedMatching DOID:1595 melancholic depression oboInOwl:hasDbXref UMLS:C0041696 semapv:UnspecifiedMatching -DOID:1595 melancholic depression skos:exactMatch OMIM:608516 semapv:UnspecifiedMatching DOID:1596 depressive disorder oboInOwl:hasDbXref ICD10CM:F33.9 semapv:UnspecifiedMatching DOID:1596 depressive disorder oboInOwl:hasDbXref MESH:D003863 semapv:UnspecifiedMatching DOID:1596 depressive disorder oboInOwl:hasDbXref NCI:C2982 semapv:UnspecifiedMatching @@ -25136,9 +14682,7 @@ DOID:161 keratosis oboInOwl:hasDbXref UMLS:C0022593 semapv:UnspecifiedMatching DOID:1612 breast cancer oboInOwl:hasDbXref ICD10CM:C50 semapv:UnspecifiedMatching DOID:1612 breast cancer oboInOwl:hasDbXref MESH:D001943 semapv:UnspecifiedMatching DOID:1612 breast cancer oboInOwl:hasDbXref NCI:C9335 semapv:UnspecifiedMatching -DOID:1612 breast cancer oboInOwl:hasDbXref OMIM:114480 semapv:UnspecifiedMatching DOID:1612 breast cancer oboInOwl:hasDbXref UMLS:C0006142 semapv:UnspecifiedMatching -DOID:1612 breast cancer skos:exactMatch OMIM:114480 semapv:UnspecifiedMatching DOID:1614 male breast cancer oboInOwl:hasDbXref GARD:9312 semapv:UnspecifiedMatching DOID:1614 male breast cancer oboInOwl:hasDbXref MESH:D018567 semapv:UnspecifiedMatching DOID:1614 male breast cancer oboInOwl:hasDbXref UMLS:C0242788 semapv:UnspecifiedMatching @@ -25209,9 +14753,6 @@ DOID:1657 ventricular septal defect oboInOwl:hasDbXref ICD10CM:Q21.0 semapv:Unsp DOID:1657 ventricular septal defect oboInOwl:hasDbXref ICD9CM:745.4 semapv:UnspecifiedMatching DOID:1657 ventricular septal defect oboInOwl:hasDbXref MESH:D006345 semapv:UnspecifiedMatching DOID:1657 ventricular septal defect oboInOwl:hasDbXref NCI:C84506 semapv:UnspecifiedMatching -DOID:1657 ventricular septal defect oboInOwl:hasDbXref OMIM:614429 semapv:UnspecifiedMatching -DOID:1657 ventricular septal defect oboInOwl:hasDbXref OMIM:614431 semapv:UnspecifiedMatching -DOID:1657 ventricular septal defect oboInOwl:hasDbXref OMIM:614432 semapv:UnspecifiedMatching DOID:1657 ventricular septal defect oboInOwl:hasDbXref ORDO:1480 semapv:UnspecifiedMatching DOID:1657 ventricular septal defect oboInOwl:hasDbXref UMLS:C0018818 semapv:UnspecifiedMatching DOID:1659 supratentorial cancer oboInOwl:hasDbXref ICD10CM:C71.0 semapv:UnspecifiedMatching @@ -25295,18 +14836,14 @@ DOID:1700 X-linked ichthyosis oboInOwl:hasDbXref GARD:7904 semapv:UnspecifiedMat DOID:1700 X-linked ichthyosis oboInOwl:hasDbXref ICD10CM:Q80.1 semapv:UnspecifiedMatching DOID:1700 X-linked ichthyosis oboInOwl:hasDbXref MESH:D016114 semapv:UnspecifiedMatching DOID:1700 X-linked ichthyosis oboInOwl:hasDbXref NCI:C84779 semapv:UnspecifiedMatching -DOID:1700 X-linked ichthyosis oboInOwl:hasDbXref OMIM:308100 semapv:UnspecifiedMatching DOID:1700 X-linked ichthyosis oboInOwl:hasDbXref UMLS:C0079588 semapv:UnspecifiedMatching -DOID:1700 X-linked ichthyosis skos:exactMatch OMIM:308100 semapv:UnspecifiedMatching DOID:1701 steroid inherited metabolic disorder oboInOwl:hasDbXref MESH:D043202 semapv:UnspecifiedMatching DOID:1701 steroid inherited metabolic disorder oboInOwl:hasDbXref UMLS:C1257809 semapv:UnspecifiedMatching DOID:1702 ichthyosis vulgaris oboInOwl:hasDbXref GARD:6752 semapv:UnspecifiedMatching DOID:1702 ichthyosis vulgaris oboInOwl:hasDbXref ICD10CM:Q80.0 semapv:UnspecifiedMatching DOID:1702 ichthyosis vulgaris oboInOwl:hasDbXref MESH:D016112 semapv:UnspecifiedMatching DOID:1702 ichthyosis vulgaris oboInOwl:hasDbXref NCI:C84778 semapv:UnspecifiedMatching -DOID:1702 ichthyosis vulgaris oboInOwl:hasDbXref OMIM:146700 semapv:UnspecifiedMatching DOID:1702 ichthyosis vulgaris oboInOwl:hasDbXref UMLS:C0079584 semapv:UnspecifiedMatching -DOID:1702 ichthyosis vulgaris skos:exactMatch OMIM:146700 semapv:UnspecifiedMatching DOID:1703 Richter's syndrome oboInOwl:hasDbXref GARD:7578 semapv:UnspecifiedMatching DOID:1703 Richter's syndrome oboInOwl:hasDbXref ICD10CM:C91.1 semapv:UnspecifiedMatching DOID:1703 Richter's syndrome oboInOwl:hasDbXref NCI:C35424 semapv:UnspecifiedMatching @@ -25416,9 +14953,7 @@ DOID:1756 facial nerve disease oboInOwl:hasDbXref NCI:C27594 semapv:UnspecifiedM DOID:1756 facial nerve disease oboInOwl:hasDbXref UMLS:C0015464 semapv:UnspecifiedMatching DOID:1757 facial hemiatrophy oboInOwl:hasDbXref MESH:D005150 semapv:UnspecifiedMatching DOID:1757 facial hemiatrophy oboInOwl:hasDbXref NCI:C84703 semapv:UnspecifiedMatching -DOID:1757 facial hemiatrophy oboInOwl:hasDbXref OMIM:141300 semapv:UnspecifiedMatching DOID:1757 facial hemiatrophy oboInOwl:hasDbXref UMLS:C0015458 semapv:UnspecifiedMatching -DOID:1757 facial hemiatrophy skos:exactMatch OMIM:141300 semapv:UnspecifiedMatching DOID:1759 American histoplasmosis oboInOwl:hasDbXref ICD10CM:B39.4 semapv:UnspecifiedMatching DOID:1759 American histoplasmosis oboInOwl:hasDbXref ICD9CM:115.0 semapv:UnspecifiedMatching DOID:1759 American histoplasmosis oboInOwl:hasDbXref MESH:D006660 semapv:UnspecifiedMatching @@ -25431,9 +14966,7 @@ DOID:1761 Melkersson-Rosenthal syndrome oboInOwl:hasDbXref GARD:7010 semapv:Unsp DOID:1761 Melkersson-Rosenthal syndrome oboInOwl:hasDbXref ICD10CM:G51.2 semapv:UnspecifiedMatching DOID:1761 Melkersson-Rosenthal syndrome oboInOwl:hasDbXref MESH:D008556 semapv:UnspecifiedMatching DOID:1761 Melkersson-Rosenthal syndrome oboInOwl:hasDbXref NCI:C84886 semapv:UnspecifiedMatching -DOID:1761 Melkersson-Rosenthal syndrome oboInOwl:hasDbXref OMIM:155900 semapv:UnspecifiedMatching DOID:1761 Melkersson-Rosenthal syndrome oboInOwl:hasDbXref UMLS:C0025235 semapv:UnspecifiedMatching -DOID:1761 Melkersson-Rosenthal syndrome skos:exactMatch OMIM:155900 semapv:UnspecifiedMatching DOID:1762 cheilitis oboInOwl:hasDbXref ICD10CM:K13.0 semapv:UnspecifiedMatching DOID:1762 cheilitis oboInOwl:hasDbXref MESH:D002613 semapv:UnspecifiedMatching DOID:1762 cheilitis oboInOwl:hasDbXref NCI:C79545 semapv:UnspecifiedMatching @@ -25500,12 +15033,10 @@ DOID:1790 malignant mesothelioma oboInOwl:hasDbXref NCI:C27926 semapv:Unspecifie DOID:1790 malignant mesothelioma oboInOwl:hasDbXref NCI:C4456 semapv:UnspecifiedMatching DOID:1790 malignant mesothelioma oboInOwl:hasDbXref NCI:C7865 semapv:UnspecifiedMatching DOID:1790 malignant mesothelioma oboInOwl:hasDbXref NCI:C8420 semapv:UnspecifiedMatching -DOID:1790 malignant mesothelioma oboInOwl:hasDbXref OMIM:156240 semapv:UnspecifiedMatching DOID:1790 malignant mesothelioma oboInOwl:hasDbXref UMLS:C0278752 semapv:UnspecifiedMatching DOID:1790 malignant mesothelioma oboInOwl:hasDbXref UMLS:C0345967 semapv:UnspecifiedMatching DOID:1790 malignant mesothelioma oboInOwl:hasDbXref UMLS:C0392400 semapv:UnspecifiedMatching DOID:1790 malignant mesothelioma oboInOwl:hasDbXref UMLS:C1332338 semapv:UnspecifiedMatching -DOID:1790 malignant mesothelioma skos:exactMatch OMIM:156240 semapv:UnspecifiedMatching DOID:1791 peritoneal carcinoma oboInOwl:hasDbXref NCI:C40022 semapv:UnspecifiedMatching DOID:1791 peritoneal carcinoma oboInOwl:hasDbXref UMLS:C1514428 semapv:UnspecifiedMatching DOID:1792 pancreas lymphoma oboInOwl:hasDbXref NCI:C5714 semapv:UnspecifiedMatching @@ -25563,9 +15094,7 @@ DOID:1811 reflex sympathetic dystrophy oboInOwl:hasDbXref ICD10CM:G90.5 semapv:U DOID:1811 reflex sympathetic dystrophy oboInOwl:hasDbXref ICD9CM:337.2 semapv:UnspecifiedMatching DOID:1811 reflex sympathetic dystrophy oboInOwl:hasDbXref MESH:D012019 semapv:UnspecifiedMatching DOID:1811 reflex sympathetic dystrophy oboInOwl:hasDbXref NCI:C85042 semapv:UnspecifiedMatching -DOID:1811 reflex sympathetic dystrophy oboInOwl:hasDbXref OMIM:604335 semapv:UnspecifiedMatching DOID:1811 reflex sympathetic dystrophy oboInOwl:hasDbXref UMLS:C0034931 semapv:UnspecifiedMatching -DOID:1811 reflex sympathetic dystrophy skos:exactMatch OMIM:604335 semapv:UnspecifiedMatching DOID:182 calcinosis oboInOwl:hasDbXref MESH:D002114 semapv:UnspecifiedMatching DOID:182 calcinosis oboInOwl:hasDbXref NCI:C3672 semapv:UnspecifiedMatching DOID:182 calcinosis oboInOwl:hasDbXref UMLS:C0006663 semapv:UnspecifiedMatching @@ -25590,9 +15119,7 @@ DOID:1826 epilepsy skos:narrowMatch ICD10CM:G40.9 semapv:UnspecifiedMatching DOID:1826 epilepsy skos:narrowMatch ICD10CM:G40.909 semapv:UnspecifiedMatching DOID:1827 idiopathic generalized epilepsy oboInOwl:hasDbXref MESH:D004829 semapv:UnspecifiedMatching DOID:1827 idiopathic generalized epilepsy oboInOwl:hasDbXref NCI:C3021 semapv:UnspecifiedMatching -DOID:1827 idiopathic generalized epilepsy oboInOwl:hasDbXref OMIM:600669 semapv:UnspecifiedMatching DOID:1827 idiopathic generalized epilepsy oboInOwl:hasDbXref UMLS:C0014548 semapv:UnspecifiedMatching -DOID:1827 idiopathic generalized epilepsy skos:exactMatch OMIM:600669 semapv:UnspecifiedMatching DOID:1829 urethral stricture oboInOwl:hasDbXref ICD9CM:598.8 semapv:UnspecifiedMatching DOID:1829 urethral stricture oboInOwl:hasDbXref UMLS:C0029752 semapv:UnspecifiedMatching DOID:1829 urethral stricture skos:exactMatch MESH:D14525 semapv:UnspecifiedMatching @@ -25605,15 +15132,11 @@ DOID:1835 mononeuritis multiplex oboInOwl:hasDbXref UMLS:C0151295 semapv:Unspeci DOID:1837 diabetic ketoacidosis oboInOwl:hasDbXref ICD9CM:250.1 semapv:UnspecifiedMatching DOID:1837 diabetic ketoacidosis oboInOwl:hasDbXref MESH:D016883 semapv:UnspecifiedMatching DOID:1837 diabetic ketoacidosis oboInOwl:hasDbXref NCI:C50530 semapv:UnspecifiedMatching -DOID:1837 diabetic ketoacidosis oboInOwl:hasDbXref OMIM:612227 semapv:UnspecifiedMatching DOID:1837 diabetic ketoacidosis oboInOwl:hasDbXref UMLS:C0011880 semapv:UnspecifiedMatching -DOID:1837 diabetic ketoacidosis skos:exactMatch OMIM:612227 semapv:UnspecifiedMatching DOID:1838 Menkes disease oboInOwl:hasDbXref GARD:1521 semapv:UnspecifiedMatching DOID:1838 Menkes disease oboInOwl:hasDbXref MESH:D007706 semapv:UnspecifiedMatching DOID:1838 Menkes disease oboInOwl:hasDbXref NCI:C75486 semapv:UnspecifiedMatching -DOID:1838 Menkes disease oboInOwl:hasDbXref OMIM:309400 semapv:UnspecifiedMatching DOID:1838 Menkes disease oboInOwl:hasDbXref UMLS:C0022716 semapv:UnspecifiedMatching -DOID:1838 Menkes disease skos:exactMatch OMIM:309400 semapv:UnspecifiedMatching DOID:184 bone cancer oboInOwl:hasDbXref MESH:D001859 semapv:UnspecifiedMatching DOID:184 bone cancer oboInOwl:hasDbXref NCI:C9343 semapv:UnspecifiedMatching DOID:184 bone cancer oboInOwl:hasDbXref UMLS:C0005967 semapv:UnspecifiedMatching @@ -25633,18 +15156,14 @@ DOID:1856 cherubism oboInOwl:hasDbXref GARD:6036 semapv:UnspecifiedMatching DOID:1856 cherubism oboInOwl:hasDbXref ICD10CM:M27.8 semapv:UnspecifiedMatching DOID:1856 cherubism oboInOwl:hasDbXref MESH:D002636 semapv:UnspecifiedMatching DOID:1856 cherubism oboInOwl:hasDbXref NCI:C84630 semapv:UnspecifiedMatching -DOID:1856 cherubism oboInOwl:hasDbXref OMIM:118400 semapv:UnspecifiedMatching DOID:1856 cherubism oboInOwl:hasDbXref UMLS:C0008029 semapv:UnspecifiedMatching -DOID:1856 cherubism skos:exactMatch OMIM:118400 semapv:UnspecifiedMatching DOID:1858 McCune Albright syndrome oboInOwl:hasDbXref GARD:6995 semapv:UnspecifiedMatching DOID:1858 McCune Albright syndrome oboInOwl:hasDbXref ICD10CM:Q78.1 semapv:UnspecifiedMatching DOID:1858 McCune Albright syndrome oboInOwl:hasDbXref ICD9CM:756.54 semapv:UnspecifiedMatching DOID:1858 McCune Albright syndrome oboInOwl:hasDbXref MESH:D005359 semapv:UnspecifiedMatching DOID:1858 McCune Albright syndrome oboInOwl:hasDbXref NCI:C34610 semapv:UnspecifiedMatching -DOID:1858 McCune Albright syndrome oboInOwl:hasDbXref OMIM:174800 semapv:UnspecifiedMatching DOID:1858 McCune Albright syndrome oboInOwl:hasDbXref UMLS:C0016065 semapv:UnspecifiedMatching DOID:1858 McCune Albright syndrome skos:exactMatch MESH:D005359 semapv:UnspecifiedMatching -DOID:1858 McCune Albright syndrome skos:exactMatch OMIM:174800 semapv:UnspecifiedMatching DOID:1862 jaw cancer oboInOwl:hasDbXref MESH:D007573 semapv:UnspecifiedMatching DOID:1862 jaw cancer oboInOwl:hasDbXref UMLS:C0022364 semapv:UnspecifiedMatching DOID:1863 skull cancer oboInOwl:hasDbXref MESH:D012888 semapv:UnspecifiedMatching @@ -25666,10 +15185,8 @@ DOID:1876 sexual dysfunction oboInOwl:hasDbXref UMLS:C0549622 semapv:Unspecified DOID:1882 atrial heart septal defect oboInOwl:hasDbXref ICD10CM:Q21.1 semapv:UnspecifiedMatching DOID:1882 atrial heart septal defect oboInOwl:hasDbXref MESH:D006344 semapv:UnspecifiedMatching DOID:1882 atrial heart septal defect oboInOwl:hasDbXref NCI:C84473 semapv:UnspecifiedMatching -DOID:1882 atrial heart septal defect oboInOwl:hasDbXref OMIMPS:108800 semapv:UnspecifiedMatching DOID:1882 atrial heart septal defect oboInOwl:hasDbXref ORDO:1478 semapv:UnspecifiedMatching DOID:1882 atrial heart septal defect oboInOwl:hasDbXref UMLS:C0018817 semapv:UnspecifiedMatching -DOID:1882 atrial heart septal defect skos:exactMatch OMIMPS:108800 semapv:UnspecifiedMatching DOID:1883 hepatitis C oboInOwl:hasDbXref EFO:0003047 semapv:UnspecifiedMatching DOID:1883 hepatitis C oboInOwl:hasDbXref ICD10CM:B19.20 semapv:UnspecifiedMatching DOID:1883 hepatitis C oboInOwl:hasDbXref ICD9CM:070.7 semapv:UnspecifiedMatching @@ -25717,9 +15234,7 @@ DOID:1911 endodermal sinus tumor oboInOwl:hasDbXref UMLS:C0014145 semapv:Unspeci DOID:1919 Lesch-Nyhan syndrome oboInOwl:hasDbXref ICD10CM:E79.1 semapv:UnspecifiedMatching DOID:1919 Lesch-Nyhan syndrome oboInOwl:hasDbXref MESH:D007926 semapv:UnspecifiedMatching DOID:1919 Lesch-Nyhan syndrome oboInOwl:hasDbXref NCI:C61255 semapv:UnspecifiedMatching -DOID:1919 Lesch-Nyhan syndrome oboInOwl:hasDbXref OMIM:300322 semapv:UnspecifiedMatching DOID:1919 Lesch-Nyhan syndrome oboInOwl:hasDbXref UMLS:C0023374 semapv:UnspecifiedMatching -DOID:1919 Lesch-Nyhan syndrome skos:exactMatch OMIM:300322 semapv:UnspecifiedMatching DOID:192 sex cord-gonadal stromal tumor oboInOwl:hasDbXref ICDO:8590/1 semapv:UnspecifiedMatching DOID:192 sex cord-gonadal stromal tumor oboInOwl:hasDbXref MESH:D018312 semapv:UnspecifiedMatching DOID:192 sex cord-gonadal stromal tumor oboInOwl:hasDbXref NCI:C3794 semapv:UnspecifiedMatching @@ -25737,16 +15252,12 @@ DOID:1923 disorder of sexual development oboInOwl:hasDbXref MESH:D012734 semapv: DOID:1923 disorder of sexual development oboInOwl:hasDbXref UMLS:C0036875 semapv:UnspecifiedMatching DOID:1924 hypogonadism oboInOwl:hasDbXref MESH:D007006 semapv:UnspecifiedMatching DOID:1924 hypogonadism oboInOwl:hasDbXref NCI:C9227 semapv:UnspecifiedMatching -DOID:1924 hypogonadism oboInOwl:hasDbXref OMIM:241100 semapv:UnspecifiedMatching -DOID:1924 hypogonadism oboInOwl:hasDbXref OMIM:312300 semapv:UnspecifiedMatching DOID:1924 hypogonadism oboInOwl:hasDbXref UMLS:C0020619 semapv:UnspecifiedMatching DOID:1925 Coffin-Siris syndrome oboInOwl:hasDbXref GARD:6124 semapv:UnspecifiedMatching DOID:1925 Coffin-Siris syndrome oboInOwl:hasDbXref MESH:C536436 semapv:UnspecifiedMatching DOID:1925 Coffin-Siris syndrome oboInOwl:hasDbXref NCI:C35321 semapv:UnspecifiedMatching -DOID:1925 Coffin-Siris syndrome oboInOwl:hasDbXref OMIMPS:135900 semapv:UnspecifiedMatching DOID:1925 Coffin-Siris syndrome oboInOwl:hasDbXref ORDO:1465 semapv:UnspecifiedMatching DOID:1925 Coffin-Siris syndrome oboInOwl:hasDbXref UMLS:C0265338 semapv:UnspecifiedMatching -DOID:1925 Coffin-Siris syndrome skos:exactMatch OMIMPS:135900 semapv:UnspecifiedMatching DOID:1926 Gaucher's disease oboInOwl:hasDbXref GARD:8233 semapv:UnspecifiedMatching DOID:1926 Gaucher's disease oboInOwl:hasDbXref ICD10CM:E75.22 semapv:UnspecifiedMatching DOID:1926 Gaucher's disease oboInOwl:hasDbXref MESH:D005776 semapv:UnspecifiedMatching @@ -25761,43 +15272,32 @@ DOID:1927 sphingolipidosis oboInOwl:hasDbXref UMLS:C0037899 semapv:UnspecifiedMa DOID:1928 Williams-Beuren syndrome oboInOwl:hasDbXref ICD10CM:Q93.82 semapv:UnspecifiedMatching DOID:1928 Williams-Beuren syndrome oboInOwl:hasDbXref MESH:D018980 semapv:UnspecifiedMatching DOID:1928 Williams-Beuren syndrome oboInOwl:hasDbXref NCI:C85232 semapv:UnspecifiedMatching -DOID:1928 Williams-Beuren syndrome oboInOwl:hasDbXref OMIM:194050 semapv:UnspecifiedMatching DOID:1928 Williams-Beuren syndrome oboInOwl:hasDbXref UMLS:C0175702 semapv:UnspecifiedMatching -DOID:1928 Williams-Beuren syndrome skos:exactMatch OMIM:194050 semapv:UnspecifiedMatching DOID:1929 supravalvular aortic stenosis oboInOwl:hasDbXref GARD:743 semapv:UnspecifiedMatching DOID:1929 supravalvular aortic stenosis oboInOwl:hasDbXref ICD10CM:Q25.3 semapv:UnspecifiedMatching DOID:1929 supravalvular aortic stenosis oboInOwl:hasDbXref MESH:D021921 semapv:UnspecifiedMatching DOID:1929 supravalvular aortic stenosis oboInOwl:hasDbXref NCI:C85176 semapv:UnspecifiedMatching -DOID:1929 supravalvular aortic stenosis oboInOwl:hasDbXref OMIM:185500 semapv:UnspecifiedMatching DOID:1929 supravalvular aortic stenosis oboInOwl:hasDbXref UMLS:C0003499 semapv:UnspecifiedMatching -DOID:1929 supravalvular aortic stenosis skos:exactMatch OMIM:185500 semapv:UnspecifiedMatching DOID:193 reproductive organ cancer oboInOwl:hasDbXref NCI:C3674 semapv:UnspecifiedMatching DOID:193 reproductive organ cancer oboInOwl:hasDbXref UMLS:C0178830 semapv:UnspecifiedMatching DOID:1930 Laurence-Moon syndrome oboInOwl:hasDbXref GARD:12635 semapv:UnspecifiedMatching DOID:1930 Laurence-Moon syndrome oboInOwl:hasDbXref MEDDRA:10056710 semapv:UnspecifiedMatching DOID:1930 Laurence-Moon syndrome oboInOwl:hasDbXref MESH:D007849 semapv:UnspecifiedMatching DOID:1930 Laurence-Moon syndrome oboInOwl:hasDbXref NCI:C34760 semapv:UnspecifiedMatching -DOID:1930 Laurence-Moon syndrome oboInOwl:hasDbXref OMIM:245800 semapv:UnspecifiedMatching DOID:1930 Laurence-Moon syndrome oboInOwl:hasDbXref ORDO:2377 semapv:UnspecifiedMatching DOID:1930 Laurence-Moon syndrome oboInOwl:hasDbXref UMLS:C0023138 semapv:UnspecifiedMatching -DOID:1930 Laurence-Moon syndrome skos:exactMatch OMIM:245800 semapv:UnspecifiedMatching DOID:1931 hypothalamic disease oboInOwl:hasDbXref MESH:D007027 semapv:UnspecifiedMatching DOID:1931 hypothalamic disease oboInOwl:hasDbXref UMLS:C0020655 semapv:UnspecifiedMatching DOID:1932 Angelman syndrome oboInOwl:hasDbXref GARD:5810 semapv:UnspecifiedMatching DOID:1932 Angelman syndrome oboInOwl:hasDbXref ICD10CM:Q93.51 semapv:UnspecifiedMatching DOID:1932 Angelman syndrome oboInOwl:hasDbXref MESH:D017204 semapv:UnspecifiedMatching DOID:1932 Angelman syndrome oboInOwl:hasDbXref NCI:C75462 semapv:UnspecifiedMatching -DOID:1932 Angelman syndrome oboInOwl:hasDbXref OMIM:105830 semapv:UnspecifiedMatching DOID:1932 Angelman syndrome oboInOwl:hasDbXref UMLS:C0162635 semapv:UnspecifiedMatching DOID:1932 Angelman syndrome skos:exactMatch MESH:D017204 semapv:UnspecifiedMatching -DOID:1932 Angelman syndrome skos:exactMatch OMIM:105830 semapv:UnspecifiedMatching DOID:1933 Rubinstein-Taybi syndrome oboInOwl:hasDbXref GARD:7593 semapv:UnspecifiedMatching DOID:1933 Rubinstein-Taybi syndrome oboInOwl:hasDbXref ICD10CM:Q87.2 semapv:UnspecifiedMatching DOID:1933 Rubinstein-Taybi syndrome oboInOwl:hasDbXref MESH:D012415 semapv:UnspecifiedMatching DOID:1933 Rubinstein-Taybi syndrome oboInOwl:hasDbXref NCI:C75466 semapv:UnspecifiedMatching -DOID:1933 Rubinstein-Taybi syndrome oboInOwl:hasDbXref OMIM:180849 semapv:UnspecifiedMatching -DOID:1933 Rubinstein-Taybi syndrome oboInOwl:hasDbXref OMIM:610543 semapv:UnspecifiedMatching -DOID:1933 Rubinstein-Taybi syndrome oboInOwl:hasDbXref OMIM:613684 semapv:UnspecifiedMatching DOID:1933 Rubinstein-Taybi syndrome oboInOwl:hasDbXref ORDO:783 semapv:UnspecifiedMatching DOID:1933 Rubinstein-Taybi syndrome oboInOwl:hasDbXref UMLS:C0035934 semapv:UnspecifiedMatching DOID:1934 dysostosis oboInOwl:hasDbXref MESH:D004413 semapv:UnspecifiedMatching @@ -25807,10 +15307,8 @@ DOID:1935 Bardet-Biedl syndrome oboInOwl:hasDbXref GARD:6866 semapv:UnspecifiedM DOID:1935 Bardet-Biedl syndrome oboInOwl:hasDbXref ICD10CM:Q87.89 semapv:UnspecifiedMatching DOID:1935 Bardet-Biedl syndrome oboInOwl:hasDbXref MESH:D020788 semapv:UnspecifiedMatching DOID:1935 Bardet-Biedl syndrome oboInOwl:hasDbXref NCI:C118632 semapv:UnspecifiedMatching -DOID:1935 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIMPS:209900 semapv:UnspecifiedMatching DOID:1935 Bardet-Biedl syndrome oboInOwl:hasDbXref ORDO:110 semapv:UnspecifiedMatching DOID:1935 Bardet-Biedl syndrome oboInOwl:hasDbXref UMLS:C0752166 semapv:UnspecifiedMatching -DOID:1935 Bardet-Biedl syndrome skos:exactMatch OMIMPS:209900 semapv:UnspecifiedMatching DOID:1936 atherosclerosis oboInOwl:hasDbXref EFO:0003914 semapv:UnspecifiedMatching DOID:1936 atherosclerosis oboInOwl:hasDbXref ICD10CM:I70 semapv:UnspecifiedMatching DOID:1936 atherosclerosis oboInOwl:hasDbXref ICD9CM:440 semapv:UnspecifiedMatching @@ -25836,9 +15334,7 @@ DOID:1949 cholecystitis oboInOwl:hasDbXref ICD10CM:K81 semapv:UnspecifiedMatchin DOID:1949 cholecystitis oboInOwl:hasDbXref ICD9CM:575.10 semapv:UnspecifiedMatching DOID:1949 cholecystitis oboInOwl:hasDbXref MESH:D002764 semapv:UnspecifiedMatching DOID:1949 cholecystitis oboInOwl:hasDbXref NCI:C34465 semapv:UnspecifiedMatching -DOID:1949 cholecystitis oboInOwl:hasDbXref OMIM:600803 semapv:UnspecifiedMatching DOID:1949 cholecystitis oboInOwl:hasDbXref UMLS:C0008325 semapv:UnspecifiedMatching -DOID:1949 cholecystitis skos:exactMatch OMIM:600803 semapv:UnspecifiedMatching DOID:1962 fallopian tube disease oboInOwl:hasDbXref MESH:D005184 semapv:UnspecifiedMatching DOID:1962 fallopian tube disease oboInOwl:hasDbXref NCI:C26771 semapv:UnspecifiedMatching DOID:1962 fallopian tube disease oboInOwl:hasDbXref UMLS:C0015556 semapv:UnspecifiedMatching @@ -25922,10 +15418,8 @@ DOID:201 connective tissue cancer oboInOwl:hasDbXref MESH:D009372 semapv:Unspeci DOID:201 connective tissue cancer oboInOwl:hasDbXref UMLS:C0027656 semapv:UnspecifiedMatching DOID:2012 Nezelof syndrome oboInOwl:hasDbXref ICD10CM:D81.4 semapv:UnspecifiedMatching DOID:2012 Nezelof syndrome oboInOwl:hasDbXref ICD9CM:279.13 semapv:UnspecifiedMatching -DOID:2012 Nezelof syndrome oboInOwl:hasDbXref OMIM:242700 semapv:UnspecifiedMatching DOID:2012 Nezelof syndrome oboInOwl:hasDbXref ORDO:83471 semapv:UnspecifiedMatching DOID:2012 Nezelof syndrome oboInOwl:hasDbXref UMLS:C0152094 semapv:UnspecifiedMatching -DOID:2012 Nezelof syndrome skos:exactMatch OMIM:242700 semapv:UnspecifiedMatching DOID:2018 hyperinsulinism oboInOwl:hasDbXref ICD10CM:E16.1 semapv:UnspecifiedMatching DOID:2018 hyperinsulinism oboInOwl:hasDbXref MESH:D006946 semapv:UnspecifiedMatching DOID:2018 hyperinsulinism oboInOwl:hasDbXref UMLS:C0020459 semapv:UnspecifiedMatching @@ -25945,9 +15439,7 @@ DOID:203 exostosis oboInOwl:hasDbXref UMLS:C1442903 semapv:UnspecifiedMatching DOID:2030 anxiety disorder oboInOwl:hasDbXref ICD10CM:F41.9 semapv:UnspecifiedMatching DOID:2030 anxiety disorder oboInOwl:hasDbXref MESH:D001008 semapv:UnspecifiedMatching DOID:2030 anxiety disorder oboInOwl:hasDbXref NCI:C2878 semapv:UnspecifiedMatching -DOID:2030 anxiety disorder oboInOwl:hasDbXref OMIM:607834 semapv:UnspecifiedMatching DOID:2030 anxiety disorder oboInOwl:hasDbXref UMLS:C0003469 semapv:UnspecifiedMatching -DOID:2030 anxiety disorder skos:exactMatch OMIM:607834 semapv:UnspecifiedMatching DOID:2033 communication disorder oboInOwl:hasDbXref ICD10CM:F80.9 semapv:UnspecifiedMatching DOID:2033 communication disorder oboInOwl:hasDbXref MESH:D003147 semapv:UnspecifiedMatching DOID:2033 communication disorder oboInOwl:hasDbXref NCI:C2958 semapv:UnspecifiedMatching @@ -25995,14 +15487,6 @@ DOID:2055 post-traumatic stress disorder oboInOwl:hasDbXref UMLS:C0038436 semapv DOID:2058 chronic mucocutaneous candidiasis oboInOwl:hasDbXref GARD:12313 semapv:UnspecifiedMatching DOID:2058 chronic mucocutaneous candidiasis oboInOwl:hasDbXref MESH:D002178 semapv:UnspecifiedMatching DOID:2058 chronic mucocutaneous candidiasis oboInOwl:hasDbXref NCI:C34444 semapv:UnspecifiedMatching -DOID:2058 chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:114580 semapv:UnspecifiedMatching -DOID:2058 chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:212050 semapv:UnspecifiedMatching -DOID:2058 chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:607644 semapv:UnspecifiedMatching -DOID:2058 chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:613108 semapv:UnspecifiedMatching -DOID:2058 chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:613956 semapv:UnspecifiedMatching -DOID:2058 chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:614162 semapv:UnspecifiedMatching -DOID:2058 chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:615527 semapv:UnspecifiedMatching -DOID:2058 chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:616445 semapv:UnspecifiedMatching DOID:2058 chronic mucocutaneous candidiasis oboInOwl:hasDbXref ORDO:1334 semapv:UnspecifiedMatching DOID:2058 chronic mucocutaneous candidiasis oboInOwl:hasDbXref UMLS:C0006845 semapv:UnspecifiedMatching DOID:2059 vulvar disease oboInOwl:hasDbXref MESH:D014845 semapv:UnspecifiedMatching @@ -26011,9 +15495,6 @@ DOID:2059 vulvar disease oboInOwl:hasDbXref UMLS:C0042994 semapv:UnspecifiedMatc DOID:206 hereditary multiple exostoses oboInOwl:hasDbXref ICD10CM:Q78.6 semapv:UnspecifiedMatching DOID:206 hereditary multiple exostoses oboInOwl:hasDbXref MESH:D005097 semapv:UnspecifiedMatching DOID:206 hereditary multiple exostoses oboInOwl:hasDbXref NCI:C5183 semapv:UnspecifiedMatching -DOID:206 hereditary multiple exostoses oboInOwl:hasDbXref OMIM:133700 semapv:UnspecifiedMatching -DOID:206 hereditary multiple exostoses oboInOwl:hasDbXref OMIM:133701 semapv:UnspecifiedMatching -DOID:206 hereditary multiple exostoses oboInOwl:hasDbXref OMIM:600209 semapv:UnspecifiedMatching DOID:206 hereditary multiple exostoses oboInOwl:hasDbXref ORDO:321 semapv:UnspecifiedMatching DOID:206 hereditary multiple exostoses oboInOwl:hasDbXref UMLS:C0015306 semapv:UnspecifiedMatching DOID:2060 vulvar nodular hidradenoma oboInOwl:hasDbXref NCI:C40312 semapv:UnspecifiedMatching @@ -26024,9 +15505,7 @@ DOID:2065 syringoma oboInOwl:hasDbXref GARD:10547 semapv:UnspecifiedMatching DOID:2065 syringoma oboInOwl:hasDbXref ICDO:8407/0 semapv:UnspecifiedMatching DOID:2065 syringoma oboInOwl:hasDbXref MESH:D018252 semapv:UnspecifiedMatching DOID:2065 syringoma oboInOwl:hasDbXref NCI:C3761 semapv:UnspecifiedMatching -DOID:2065 syringoma oboInOwl:hasDbXref OMIM:186600 semapv:UnspecifiedMatching DOID:2065 syringoma oboInOwl:hasDbXref UMLS:C0206673 semapv:UnspecifiedMatching -DOID:2065 syringoma skos:exactMatch OMIM:186600 semapv:UnspecifiedMatching DOID:2066 vulvar angiokeratoma oboInOwl:hasDbXref NCI:C8596 semapv:UnspecifiedMatching DOID:2066 vulvar angiokeratoma oboInOwl:hasDbXref UMLS:C1274281 semapv:UnspecifiedMatching DOID:2068 Bartholin's gland benign neoplasm oboInOwl:hasDbXref NCI:C6434 semapv:UnspecifiedMatching @@ -26099,18 +15578,14 @@ DOID:2115 B cell deficiency oboInOwl:hasDbXref UMLS:C0154276 semapv:UnspecifiedM DOID:2120 focal dermal hypoplasia oboInOwl:hasDbXref GARD:6457 semapv:UnspecifiedMatching DOID:2120 focal dermal hypoplasia oboInOwl:hasDbXref MESH:D005489 semapv:UnspecifiedMatching DOID:2120 focal dermal hypoplasia oboInOwl:hasDbXref NCI:C84715 semapv:UnspecifiedMatching -DOID:2120 focal dermal hypoplasia oboInOwl:hasDbXref OMIM:305600 semapv:UnspecifiedMatching DOID:2120 focal dermal hypoplasia oboInOwl:hasDbXref ORDO:2092 semapv:UnspecifiedMatching DOID:2120 focal dermal hypoplasia oboInOwl:hasDbXref UMLS:C0016395 semapv:UnspecifiedMatching -DOID:2120 focal dermal hypoplasia skos:exactMatch OMIM:305600 semapv:UnspecifiedMatching DOID:2121 ectodermal dysplasia oboInOwl:hasDbXref GARD:6317 semapv:UnspecifiedMatching DOID:2121 ectodermal dysplasia oboInOwl:hasDbXref ICD9CM:757.31 semapv:UnspecifiedMatching DOID:2121 ectodermal dysplasia oboInOwl:hasDbXref MESH:D004476 semapv:UnspecifiedMatching DOID:2121 ectodermal dysplasia oboInOwl:hasDbXref NCI:C84683 semapv:UnspecifiedMatching -DOID:2121 ectodermal dysplasia oboInOwl:hasDbXref OMIMPS:305100 semapv:UnspecifiedMatching DOID:2121 ectodermal dysplasia oboInOwl:hasDbXref ORDO:79373 semapv:UnspecifiedMatching DOID:2121 ectodermal dysplasia oboInOwl:hasDbXref UMLS:C0013575 semapv:UnspecifiedMatching -DOID:2121 ectodermal dysplasia skos:exactMatch OMIMPS:305100 semapv:UnspecifiedMatching DOID:2122 pneumonic tularemia oboInOwl:hasDbXref ICD10CM:A21.2 semapv:UnspecifiedMatching DOID:2122 pneumonic tularemia oboInOwl:hasDbXref ICD9CM:021.2 semapv:UnspecifiedMatching DOID:2122 pneumonic tularemia oboInOwl:hasDbXref UMLS:C0339946 semapv:UnspecifiedMatching @@ -26121,10 +15596,8 @@ DOID:2127 brain germinoma oboInOwl:hasDbXref NCI:C6284 semapv:UnspecifiedMatchin DOID:2127 brain germinoma oboInOwl:hasDbXref UMLS:C1332606 semapv:UnspecifiedMatching DOID:2129 atypical teratoid rhabdoid tumor oboInOwl:hasDbXref ICDO:9508/3 semapv:UnspecifiedMatching DOID:2129 atypical teratoid rhabdoid tumor oboInOwl:hasDbXref NCI:C6906 semapv:UnspecifiedMatching -DOID:2129 atypical teratoid rhabdoid tumor oboInOwl:hasDbXref OMIM:609322 semapv:UnspecifiedMatching DOID:2129 atypical teratoid rhabdoid tumor oboInOwl:hasDbXref ORDO:99966 semapv:UnspecifiedMatching DOID:2129 atypical teratoid rhabdoid tumor oboInOwl:hasDbXref UMLS:C1266184 semapv:UnspecifiedMatching -DOID:2129 atypical teratoid rhabdoid tumor skos:exactMatch OMIM:609322 semapv:UnspecifiedMatching DOID:2132 brain sarcoma oboInOwl:hasDbXref NCI:C5154 semapv:UnspecifiedMatching DOID:2132 brain sarcoma oboInOwl:hasDbXref UMLS:C1332607 semapv:UnspecifiedMatching DOID:2133 central nervous system sarcoma oboInOwl:hasDbXref NCI:C5153 semapv:UnspecifiedMatching @@ -26168,19 +15641,15 @@ DOID:2154 nephroblastoma oboInOwl:hasDbXref MESH:D009396 semapv:UnspecifiedMatch DOID:2154 nephroblastoma oboInOwl:hasDbXref NCI:C27730 semapv:UnspecifiedMatching DOID:2154 nephroblastoma oboInOwl:hasDbXref NCI:C3267 semapv:UnspecifiedMatching DOID:2154 nephroblastoma oboInOwl:hasDbXref NCI:C6180 semapv:UnspecifiedMatching -DOID:2154 nephroblastoma oboInOwl:hasDbXref OMIM:194070 semapv:UnspecifiedMatching DOID:2154 nephroblastoma oboInOwl:hasDbXref UMLS:C0027708 semapv:UnspecifiedMatching DOID:2154 nephroblastoma oboInOwl:hasDbXref UMLS:C1332219 semapv:UnspecifiedMatching DOID:2154 nephroblastoma oboInOwl:hasDbXref UMLS:C1333015 semapv:UnspecifiedMatching -DOID:2154 nephroblastoma skos:exactMatch OMIM:194070 semapv:UnspecifiedMatching DOID:2155 malignant ovarian germ cell neoplasm oboInOwl:hasDbXref MESH:C562841 semapv:UnspecifiedMatching DOID:2155 malignant ovarian germ cell neoplasm oboInOwl:hasDbXref NCI:C4514 semapv:UnspecifiedMatching DOID:2155 malignant ovarian germ cell neoplasm oboInOwl:hasDbXref UMLS:C0346180 semapv:UnspecifiedMatching DOID:2156 ovarian germ cell cancer oboInOwl:hasDbXref GARD:9330 semapv:UnspecifiedMatching DOID:2156 ovarian germ cell cancer oboInOwl:hasDbXref NCI:C3873 semapv:UnspecifiedMatching -DOID:2156 ovarian germ cell cancer oboInOwl:hasDbXref OMIM:603737 semapv:UnspecifiedMatching DOID:2156 ovarian germ cell cancer oboInOwl:hasDbXref UMLS:C0238324 semapv:UnspecifiedMatching -DOID:2156 ovarian germ cell cancer skos:exactMatch OMIM:603737 semapv:UnspecifiedMatching DOID:216 dental caries oboInOwl:hasDbXref EFO:0003819 semapv:UnspecifiedMatching DOID:216 dental caries oboInOwl:hasDbXref ICD10CM:K02 semapv:UnspecifiedMatching DOID:216 dental caries oboInOwl:hasDbXref ICD10CM:K02.6 semapv:UnspecifiedMatching @@ -26218,10 +15687,8 @@ DOID:2181 post-surgical hypoinsulinemia oboInOwl:hasDbXref UMLS:C0154190 semapv: DOID:2187 amelogenesis imperfecta oboInOwl:hasDbXref GARD:5791 semapv:UnspecifiedMatching DOID:2187 amelogenesis imperfecta oboInOwl:hasDbXref ICD10CM:K00.5 semapv:UnspecifiedMatching DOID:2187 amelogenesis imperfecta oboInOwl:hasDbXref MESH:D000567 semapv:UnspecifiedMatching -DOID:2187 amelogenesis imperfecta oboInOwl:hasDbXref OMIMPS:104500 semapv:UnspecifiedMatching DOID:2187 amelogenesis imperfecta oboInOwl:hasDbXref ORDO:88661 semapv:UnspecifiedMatching DOID:2187 amelogenesis imperfecta oboInOwl:hasDbXref UMLS:C0002452 semapv:UnspecifiedMatching -DOID:2187 amelogenesis imperfecta skos:exactMatch OMIMPS:104500 semapv:UnspecifiedMatching DOID:219 colon cancer oboInOwl:hasDbXref ICD10CM:C18 semapv:UnspecifiedMatching DOID:219 colon cancer oboInOwl:hasDbXref ICD9CM:153 semapv:UnspecifiedMatching DOID:219 colon cancer oboInOwl:hasDbXref MESH:D003110 semapv:UnspecifiedMatching @@ -26232,8 +15699,6 @@ DOID:221 acute perichondritis of pinna oboInOwl:hasDbXref UMLS:C0155390 semapv:U DOID:2211 factor XIII deficiency oboInOwl:hasDbXref GARD:10766 semapv:UnspecifiedMatching DOID:2211 factor XIII deficiency oboInOwl:hasDbXref MESH:D005177 semapv:UnspecifiedMatching DOID:2211 factor XIII deficiency oboInOwl:hasDbXref NCI:C98941 semapv:UnspecifiedMatching -DOID:2211 factor XIII deficiency oboInOwl:hasDbXref OMIM:613225 semapv:UnspecifiedMatching -DOID:2211 factor XIII deficiency oboInOwl:hasDbXref OMIM:613235 semapv:UnspecifiedMatching DOID:2211 factor XIII deficiency oboInOwl:hasDbXref UMLS:C0015530 semapv:UnspecifiedMatching DOID:2213 hemorrhagic disease oboInOwl:hasDbXref ICD10CM:D69.9 semapv:UnspecifiedMatching DOID:2213 hemorrhagic disease oboInOwl:hasDbXref ICD9CM:287.9 semapv:UnspecifiedMatching @@ -26246,25 +15711,18 @@ DOID:2215 factor VII deficiency oboInOwl:hasDbXref GARD:2238 semapv:UnspecifiedM DOID:2215 factor VII deficiency oboInOwl:hasDbXref ICD10CM:D68.2 semapv:UnspecifiedMatching DOID:2215 factor VII deficiency oboInOwl:hasDbXref MESH:D005168 semapv:UnspecifiedMatching DOID:2215 factor VII deficiency oboInOwl:hasDbXref NCI:C131631 semapv:UnspecifiedMatching -DOID:2215 factor VII deficiency oboInOwl:hasDbXref OMIM:227500 semapv:UnspecifiedMatching DOID:2215 factor VII deficiency oboInOwl:hasDbXref ORDO:327 semapv:UnspecifiedMatching DOID:2215 factor VII deficiency oboInOwl:hasDbXref UMLS:C0015503 semapv:UnspecifiedMatching -DOID:2215 factor VII deficiency skos:exactMatch OMIM:227500 semapv:UnspecifiedMatching -DOID:2215 factor VII deficiency skos:exactMatch OMIM:227500 semapv:UnspecifiedMatching DOID:2215 factor VII deficiency skos:exactMatch ORDO:327 semapv:UnspecifiedMatching DOID:2216 factor V deficiency oboInOwl:hasDbXref GARD:2237 semapv:UnspecifiedMatching DOID:2216 factor V deficiency oboInOwl:hasDbXref ICD10CM:D68.2 semapv:UnspecifiedMatching DOID:2216 factor V deficiency oboInOwl:hasDbXref MESH:D005166 semapv:UnspecifiedMatching DOID:2216 factor V deficiency oboInOwl:hasDbXref NCI:C98938 semapv:UnspecifiedMatching -DOID:2216 factor V deficiency oboInOwl:hasDbXref OMIM:227400 semapv:UnspecifiedMatching DOID:2216 factor V deficiency oboInOwl:hasDbXref UMLS:C0015499 semapv:UnspecifiedMatching -DOID:2216 factor V deficiency skos:exactMatch OMIM:227400 semapv:UnspecifiedMatching DOID:2217 Bernard-Soulier syndrome oboInOwl:hasDbXref MESH:D001606 semapv:UnspecifiedMatching DOID:2217 Bernard-Soulier syndrome oboInOwl:hasDbXref NCI:C84595 semapv:UnspecifiedMatching -DOID:2217 Bernard-Soulier syndrome oboInOwl:hasDbXref OMIM:231200 semapv:UnspecifiedMatching DOID:2217 Bernard-Soulier syndrome oboInOwl:hasDbXref ORDO:274 semapv:UnspecifiedMatching DOID:2217 Bernard-Soulier syndrome oboInOwl:hasDbXref UMLS:C0005129 semapv:UnspecifiedMatching -DOID:2217 Bernard-Soulier syndrome skos:exactMatch OMIM:231200 semapv:UnspecifiedMatching DOID:2218 blood platelet disease oboInOwl:hasDbXref MESH:D001791 semapv:UnspecifiedMatching DOID:2218 blood platelet disease oboInOwl:hasDbXref NCI:C131634 semapv:UnspecifiedMatching DOID:2218 blood platelet disease oboInOwl:hasDbXref UMLS:C0005818 semapv:UnspecifiedMatching @@ -26272,36 +15730,26 @@ DOID:2219 Glanzmann's thrombasthenia oboInOwl:hasDbXref GARD:2478 semapv:Unspeci DOID:2219 Glanzmann's thrombasthenia oboInOwl:hasDbXref ICD10CM:D69.1 semapv:UnspecifiedMatching DOID:2219 Glanzmann's thrombasthenia oboInOwl:hasDbXref MESH:D013915 semapv:UnspecifiedMatching DOID:2219 Glanzmann's thrombasthenia oboInOwl:hasDbXref NCI:C61249 semapv:UnspecifiedMatching -DOID:2219 Glanzmann's thrombasthenia oboInOwl:hasDbXref OMIM:273800 semapv:UnspecifiedMatching DOID:2219 Glanzmann's thrombasthenia oboInOwl:hasDbXref ORDO:849 semapv:UnspecifiedMatching DOID:2219 Glanzmann's thrombasthenia oboInOwl:hasDbXref UMLS:C0040015 semapv:UnspecifiedMatching -DOID:2219 Glanzmann's thrombasthenia skos:exactMatch OMIM:273800 semapv:UnspecifiedMatching DOID:222 perichondritis of auricle oboInOwl:hasDbXref ICD10CM:H61.0 semapv:UnspecifiedMatching DOID:222 perichondritis of auricle oboInOwl:hasDbXref ICD9CM:380.00 semapv:UnspecifiedMatching DOID:222 perichondritis of auricle oboInOwl:hasDbXref UMLS:C0155389 semapv:UnspecifiedMatching DOID:2222 factor X deficiency oboInOwl:hasDbXref GARD:6404 semapv:UnspecifiedMatching DOID:2222 factor X deficiency oboInOwl:hasDbXref MESH:D005171 semapv:UnspecifiedMatching DOID:2222 factor X deficiency oboInOwl:hasDbXref NCI:C131632 semapv:UnspecifiedMatching -DOID:2222 factor X deficiency oboInOwl:hasDbXref OMIM:227600 semapv:UnspecifiedMatching DOID:2222 factor X deficiency oboInOwl:hasDbXref ORDO:328 semapv:UnspecifiedMatching DOID:2222 factor X deficiency oboInOwl:hasDbXref UMLS:C0015519 semapv:UnspecifiedMatching -DOID:2222 factor X deficiency skos:exactMatch OMIM:227600 semapv:UnspecifiedMatching -DOID:2222 factor X deficiency skos:exactMatch OMIM:227600 semapv:UnspecifiedMatching DOID:2222 factor X deficiency skos:exactMatch ORDO:328 semapv:UnspecifiedMatching DOID:2223 platelet storage pool deficiency oboInOwl:hasDbXref GARD:5034 semapv:UnspecifiedMatching DOID:2223 platelet storage pool deficiency oboInOwl:hasDbXref MESH:D010981 semapv:UnspecifiedMatching -DOID:2223 platelet storage pool deficiency oboInOwl:hasDbXref OMIM:185050 semapv:UnspecifiedMatching DOID:2223 platelet storage pool deficiency oboInOwl:hasDbXref UMLS:C0032197 semapv:UnspecifiedMatching -DOID:2223 platelet storage pool deficiency skos:exactMatch OMIM:185050 semapv:UnspecifiedMatching DOID:2224 essential thrombocythemia oboInOwl:hasDbXref GARD:6594 semapv:UnspecifiedMatching DOID:2224 essential thrombocythemia oboInOwl:hasDbXref ICD10CM:D47.3 semapv:UnspecifiedMatching DOID:2224 essential thrombocythemia oboInOwl:hasDbXref ICD9CM:238.71 semapv:UnspecifiedMatching DOID:2224 essential thrombocythemia oboInOwl:hasDbXref ICDO:9962/3 semapv:UnspecifiedMatching DOID:2224 essential thrombocythemia oboInOwl:hasDbXref MESH:D013920 semapv:UnspecifiedMatching DOID:2224 essential thrombocythemia oboInOwl:hasDbXref NCI:C3407 semapv:UnspecifiedMatching -DOID:2224 essential thrombocythemia oboInOwl:hasDbXref OMIM:187950 semapv:UnspecifiedMatching -DOID:2224 essential thrombocythemia oboInOwl:hasDbXref OMIM:601977 semapv:UnspecifiedMatching -DOID:2224 essential thrombocythemia oboInOwl:hasDbXref OMIM:614521 semapv:UnspecifiedMatching DOID:2224 essential thrombocythemia oboInOwl:hasDbXref ORDO:3318 semapv:UnspecifiedMatching DOID:2224 essential thrombocythemia oboInOwl:hasDbXref ORDO:71493 semapv:UnspecifiedMatching DOID:2224 essential thrombocythemia oboInOwl:hasDbXref UMLS:C0040028 semapv:UnspecifiedMatching @@ -26320,9 +15768,7 @@ DOID:2229 factor XI deficiency oboInOwl:hasDbXref ICD10CM:D68.1 semapv:Unspecifi DOID:2229 factor XI deficiency oboInOwl:hasDbXref ICD9CM:286.2 semapv:UnspecifiedMatching DOID:2229 factor XI deficiency oboInOwl:hasDbXref MESH:D005173 semapv:UnspecifiedMatching DOID:2229 factor XI deficiency oboInOwl:hasDbXref NCI:C84705 semapv:UnspecifiedMatching -DOID:2229 factor XI deficiency oboInOwl:hasDbXref OMIM:612416 semapv:UnspecifiedMatching DOID:2229 factor XI deficiency oboInOwl:hasDbXref UMLS:C0015523 semapv:UnspecifiedMatching -DOID:2229 factor XI deficiency skos:exactMatch OMIM:612416 semapv:UnspecifiedMatching DOID:223 basilar artery insufficiency oboInOwl:hasDbXref ICD9CM:435.0 semapv:UnspecifiedMatching DOID:223 basilar artery insufficiency oboInOwl:hasDbXref MESH:D014715 semapv:UnspecifiedMatching DOID:223 basilar artery insufficiency oboInOwl:hasDbXref NCI:C34413 semapv:UnspecifiedMatching @@ -26330,25 +15776,19 @@ DOID:223 basilar artery insufficiency oboInOwl:hasDbXref UMLS:C0004812 semapv:Un DOID:2231 factor XII deficiency oboInOwl:hasDbXref GARD:6558 semapv:UnspecifiedMatching DOID:2231 factor XII deficiency oboInOwl:hasDbXref MESH:D005175 semapv:UnspecifiedMatching DOID:2231 factor XII deficiency oboInOwl:hasDbXref NCI:C131740 semapv:UnspecifiedMatching -DOID:2231 factor XII deficiency oboInOwl:hasDbXref OMIM:234000 semapv:UnspecifiedMatching DOID:2231 factor XII deficiency oboInOwl:hasDbXref ORDO:330 semapv:UnspecifiedMatching DOID:2231 factor XII deficiency oboInOwl:hasDbXref UMLS:C0015526 semapv:UnspecifiedMatching -DOID:2231 factor XII deficiency skos:exactMatch OMIM:234000 semapv:UnspecifiedMatching DOID:2234 focal epilepsy oboInOwl:hasDbXref MESH:D004828 semapv:UnspecifiedMatching DOID:2234 focal epilepsy oboInOwl:hasDbXref NCI:C122812 semapv:UnspecifiedMatching DOID:2234 focal epilepsy oboInOwl:hasDbXref UMLS:C0014547 semapv:UnspecifiedMatching DOID:2235 prothrombin deficiency oboInOwl:hasDbXref MESH:C562724 semapv:UnspecifiedMatching DOID:2235 prothrombin deficiency oboInOwl:hasDbXref NCI:C26799 semapv:UnspecifiedMatching -DOID:2235 prothrombin deficiency oboInOwl:hasDbXref OMIM:613679 semapv:UnspecifiedMatching DOID:2235 prothrombin deficiency oboInOwl:hasDbXref ORDO:325 semapv:UnspecifiedMatching DOID:2235 prothrombin deficiency oboInOwl:hasDbXref UMLS:C0272317 semapv:UnspecifiedMatching -DOID:2235 prothrombin deficiency skos:exactMatch OMIM:613679 semapv:UnspecifiedMatching DOID:2236 congenital afibrinogenemia oboInOwl:hasDbXref GARD:5761 semapv:UnspecifiedMatching DOID:2236 congenital afibrinogenemia oboInOwl:hasDbXref MESH:D000347 semapv:UnspecifiedMatching DOID:2236 congenital afibrinogenemia oboInOwl:hasDbXref NCI:C98130 semapv:UnspecifiedMatching -DOID:2236 congenital afibrinogenemia oboInOwl:hasDbXref OMIM:202400 semapv:UnspecifiedMatching DOID:2236 congenital afibrinogenemia oboInOwl:hasDbXref UMLS:C0001733 semapv:UnspecifiedMatching -DOID:2236 congenital afibrinogenemia skos:exactMatch OMIM:202400 semapv:UnspecifiedMatching DOID:2237 hepatitis oboInOwl:hasDbXref ICD10CM:K73.9 semapv:UnspecifiedMatching DOID:2237 hepatitis oboInOwl:hasDbXref ICD9CM:570 semapv:UnspecifiedMatching DOID:2237 hepatitis oboInOwl:hasDbXref ICD9CM:571.4 semapv:UnspecifiedMatching @@ -26367,9 +15807,7 @@ DOID:224 transient cerebral ischemia oboInOwl:hasDbXref UMLS:C0007787 semapv:Uns DOID:2247 spondylosis oboInOwl:hasDbXref ICD10CM:M47 semapv:UnspecifiedMatching DOID:2247 spondylosis oboInOwl:hasDbXref ICD9CM:721.9 semapv:UnspecifiedMatching DOID:2247 spondylosis oboInOwl:hasDbXref MESH:D055009 semapv:UnspecifiedMatching -DOID:2247 spondylosis oboInOwl:hasDbXref OMIM:184300 semapv:UnspecifiedMatching DOID:2247 spondylosis oboInOwl:hasDbXref UMLS:C0038019 semapv:UnspecifiedMatching -DOID:2247 spondylosis skos:exactMatch OMIM:184300 semapv:UnspecifiedMatching DOID:225 syndrome oboInOwl:hasDbXref MESH:D013577 semapv:UnspecifiedMatching DOID:225 syndrome oboInOwl:hasDbXref NCI:C28193 semapv:UnspecifiedMatching DOID:225 syndrome oboInOwl:hasDbXref UMLS:C0039082 semapv:UnspecifiedMatching @@ -26421,9 +15859,6 @@ DOID:2280 hidradenitis suppurativa oboInOwl:hasDbXref GARD:6658 semapv:Unspecifi DOID:2280 hidradenitis suppurativa oboInOwl:hasDbXref ICD10CM:L73.2 semapv:UnspecifiedMatching DOID:2280 hidradenitis suppurativa oboInOwl:hasDbXref MESH:D017497 semapv:UnspecifiedMatching DOID:2280 hidradenitis suppurativa oboInOwl:hasDbXref NCI:C128429 semapv:UnspecifiedMatching -DOID:2280 hidradenitis suppurativa oboInOwl:hasDbXref OMIM:142690 semapv:UnspecifiedMatching -DOID:2280 hidradenitis suppurativa oboInOwl:hasDbXref OMIM:613736 semapv:UnspecifiedMatching -DOID:2280 hidradenitis suppurativa oboInOwl:hasDbXref OMIM:613737 semapv:UnspecifiedMatching DOID:2280 hidradenitis suppurativa oboInOwl:hasDbXref UMLS:C0162836 semapv:UnspecifiedMatching DOID:2282 hidradenitis oboInOwl:hasDbXref ICD9CM:705.83 semapv:UnspecifiedMatching DOID:2282 hidradenitis oboInOwl:hasDbXref MESH:D016575 semapv:UnspecifiedMatching @@ -26451,10 +15886,8 @@ DOID:230 lateral sclerosis oboInOwl:hasDbXref ICD10CM:G12.23 semapv:UnspecifiedM DOID:230 lateral sclerosis oboInOwl:hasDbXref ICD9CM:335.24 semapv:UnspecifiedMatching DOID:230 lateral sclerosis oboInOwl:hasDbXref MESH:D016472 semapv:UnspecifiedMatching DOID:230 lateral sclerosis oboInOwl:hasDbXref NCI:C129933 semapv:UnspecifiedMatching -DOID:230 lateral sclerosis oboInOwl:hasDbXref OMIM:611637 semapv:UnspecifiedMatching DOID:230 lateral sclerosis oboInOwl:hasDbXref ORDO:35689 semapv:UnspecifiedMatching DOID:230 lateral sclerosis oboInOwl:hasDbXref UMLS:C0154682 semapv:UnspecifiedMatching -DOID:230 lateral sclerosis skos:exactMatch OMIM:611637 semapv:UnspecifiedMatching DOID:2300 spondylolysis oboInOwl:hasDbXref ICD10CM:M43.0 semapv:UnspecifiedMatching DOID:2300 spondylolysis oboInOwl:hasDbXref MESH:D013169 semapv:UnspecifiedMatching DOID:2300 spondylolysis oboInOwl:hasDbXref NCI:C35034 semapv:UnspecifiedMatching @@ -26498,9 +15931,7 @@ DOID:2339 Crouzon syndrome oboInOwl:hasDbXref GARD:6206 semapv:UnspecifiedMatchi DOID:2339 Crouzon syndrome oboInOwl:hasDbXref ICD10CM:Q75.1 semapv:UnspecifiedMatching DOID:2339 Crouzon syndrome oboInOwl:hasDbXref MESH:D003394 semapv:UnspecifiedMatching DOID:2339 Crouzon syndrome oboInOwl:hasDbXref NCI:C84653 semapv:UnspecifiedMatching -DOID:2339 Crouzon syndrome oboInOwl:hasDbXref OMIM:123500 semapv:UnspecifiedMatching DOID:2339 Crouzon syndrome oboInOwl:hasDbXref UMLS:C0010273 semapv:UnspecifiedMatching -DOID:2339 Crouzon syndrome skos:exactMatch OMIM:123500 semapv:UnspecifiedMatching DOID:234 colon adenocarcinoma oboInOwl:hasDbXref MESH:D003110 semapv:UnspecifiedMatching DOID:234 colon adenocarcinoma oboInOwl:hasDbXref NCI:C4349 semapv:UnspecifiedMatching DOID:234 colon adenocarcinoma oboInOwl:hasDbXref UMLS:C0338106 semapv:UnspecifiedMatching @@ -26508,12 +15939,6 @@ DOID:2340 craniosynostosis oboInOwl:hasDbXref GARD:6209 semapv:UnspecifiedMatchi DOID:2340 craniosynostosis oboInOwl:hasDbXref ICD10CM:Q75.0 semapv:UnspecifiedMatching DOID:2340 craniosynostosis oboInOwl:hasDbXref MESH:D003398 semapv:UnspecifiedMatching DOID:2340 craniosynostosis oboInOwl:hasDbXref NCI:C84655 semapv:UnspecifiedMatching -DOID:2340 craniosynostosis oboInOwl:hasDbXref OMIM:123100 semapv:UnspecifiedMatching -DOID:2340 craniosynostosis oboInOwl:hasDbXref OMIM:182212 semapv:UnspecifiedMatching -DOID:2340 craniosynostosis oboInOwl:hasDbXref OMIM:600593 semapv:UnspecifiedMatching -DOID:2340 craniosynostosis oboInOwl:hasDbXref OMIM:600775 semapv:UnspecifiedMatching -DOID:2340 craniosynostosis oboInOwl:hasDbXref OMIM:604757 semapv:UnspecifiedMatching -DOID:2340 craniosynostosis oboInOwl:hasDbXref OMIM:615314 semapv:UnspecifiedMatching DOID:2340 craniosynostosis oboInOwl:hasDbXref ORDO:1531 semapv:UnspecifiedMatching DOID:2340 craniosynostosis oboInOwl:hasDbXref UMLS:C0010278 semapv:UnspecifiedMatching DOID:2344 polyclonal hypergammaglobulinemia oboInOwl:hasDbXref ICD10CM:D89.0 semapv:UnspecifiedMatching @@ -26549,8 +15974,6 @@ DOID:2351 iron metabolism disease oboInOwl:hasDbXref UMLS:C0012715 semapv:Unspec DOID:2352 hemochromatosis oboInOwl:hasDbXref ICD10CM:E83.11 semapv:UnspecifiedMatching DOID:2352 hemochromatosis oboInOwl:hasDbXref MESH:D006432 semapv:UnspecifiedMatching DOID:2352 hemochromatosis oboInOwl:hasDbXref NCI:C82892 semapv:UnspecifiedMatching -DOID:2352 hemochromatosis oboInOwl:hasDbXref OMIM:231100 semapv:UnspecifiedMatching -DOID:2352 hemochromatosis oboInOwl:hasDbXref OMIMPS:235200 semapv:UnspecifiedMatching DOID:2352 hemochromatosis oboInOwl:hasDbXref ORDO:139498 semapv:UnspecifiedMatching DOID:2352 hemochromatosis oboInOwl:hasDbXref UMLS:C0018995 semapv:UnspecifiedMatching DOID:2354 myelophthisic anemia oboInOwl:hasDbXref ICD10CM:D61.82 semapv:UnspecifiedMatching @@ -26592,8 +16015,6 @@ DOID:2373 hereditary elliptocytosis oboInOwl:hasDbXref ICD10CM:D58.1 semapv:Unsp DOID:2373 hereditary elliptocytosis oboInOwl:hasDbXref ICD9CM:282.1 semapv:UnspecifiedMatching DOID:2373 hereditary elliptocytosis oboInOwl:hasDbXref MESH:D004612 semapv:UnspecifiedMatching DOID:2373 hereditary elliptocytosis oboInOwl:hasDbXref NCI:C35882 semapv:UnspecifiedMatching -DOID:2373 hereditary elliptocytosis oboInOwl:hasDbXref OMIM:130600 semapv:UnspecifiedMatching -DOID:2373 hereditary elliptocytosis oboInOwl:hasDbXref OMIM:611804 semapv:UnspecifiedMatching DOID:2373 hereditary elliptocytosis oboInOwl:hasDbXref ORDO:288 semapv:UnspecifiedMatching DOID:2373 hereditary elliptocytosis oboInOwl:hasDbXref UMLS:C0013902 semapv:UnspecifiedMatching DOID:2377 multiple sclerosis oboInOwl:hasDbXref GARD:10255 semapv:UnspecifiedMatching @@ -26601,9 +16022,6 @@ DOID:2377 multiple sclerosis oboInOwl:hasDbXref ICD10CM:G35 semapv:UnspecifiedMa DOID:2377 multiple sclerosis oboInOwl:hasDbXref ICD9CM:340 semapv:UnspecifiedMatching DOID:2377 multiple sclerosis oboInOwl:hasDbXref MESH:D009103 semapv:UnspecifiedMatching DOID:2377 multiple sclerosis oboInOwl:hasDbXref NCI:C3243 semapv:UnspecifiedMatching -DOID:2377 multiple sclerosis oboInOwl:hasDbXref OMIM:612594 semapv:UnspecifiedMatching -DOID:2377 multiple sclerosis oboInOwl:hasDbXref OMIM:612595 semapv:UnspecifiedMatching -DOID:2377 multiple sclerosis oboInOwl:hasDbXref OMIM:612596 semapv:UnspecifiedMatching DOID:2377 multiple sclerosis oboInOwl:hasDbXref UMLS:C0026769 semapv:UnspecifiedMatching DOID:2377 multiple sclerosis skos:exactMatch MESH:D009103 semapv:UnspecifiedMatching DOID:2378 relapsing-remitting multiple sclerosis oboInOwl:hasDbXref EFO:0003929 semapv:UnspecifiedMatching @@ -26635,8 +16053,6 @@ DOID:2394 ovarian cancer oboInOwl:hasDbXref ICD9CM:183.0 semapv:UnspecifiedMatch DOID:2394 ovarian cancer oboInOwl:hasDbXref MESH:D010051 semapv:UnspecifiedMatching DOID:2394 ovarian cancer oboInOwl:hasDbXref NCI:C4984 semapv:UnspecifiedMatching DOID:2394 ovarian cancer oboInOwl:hasDbXref NCI:C7431 semapv:UnspecifiedMatching -DOID:2394 ovarian cancer oboInOwl:hasDbXref OMIM:167000 semapv:UnspecifiedMatching -DOID:2394 ovarian cancer oboInOwl:hasDbXref OMIM:607893 semapv:UnspecifiedMatching DOID:2394 ovarian cancer oboInOwl:hasDbXref ORDO:213500 semapv:UnspecifiedMatching DOID:2394 ovarian cancer oboInOwl:hasDbXref ORDO:213517 semapv:UnspecifiedMatching DOID:2394 ovarian cancer oboInOwl:hasDbXref UMLS:C0919267 semapv:UnspecifiedMatching @@ -26681,10 +16097,8 @@ DOID:2435 skin glomangioma oboInOwl:hasDbXref UMLS:C1275226 semapv:UnspecifiedMa DOID:2436 glomangioma oboInOwl:hasDbXref ICDO:8712/0 semapv:UnspecifiedMatching DOID:2436 glomangioma oboInOwl:hasDbXref MESH:D005918 semapv:UnspecifiedMatching DOID:2436 glomangioma oboInOwl:hasDbXref NCI:C4222 semapv:UnspecifiedMatching -DOID:2436 glomangioma oboInOwl:hasDbXref OMIM:138000 semapv:UnspecifiedMatching DOID:2436 glomangioma oboInOwl:hasDbXref ORDO:83454 semapv:UnspecifiedMatching DOID:2436 glomangioma oboInOwl:hasDbXref UMLS:C0334421 semapv:UnspecifiedMatching -DOID:2436 glomangioma skos:exactMatch OMIM:138000 semapv:UnspecifiedMatching DOID:2438 dermis tumor oboInOwl:hasDbXref NCI:C4475 semapv:UnspecifiedMatching DOID:2438 dermis tumor oboInOwl:hasDbXref UMLS:C0346041 semapv:UnspecifiedMatching DOID:2441 frontal sinus squamous cell carcinoma oboInOwl:hasDbXref NCI:C6067 semapv:UnspecifiedMatching @@ -26709,10 +16123,8 @@ DOID:2451 protein S deficiency oboInOwl:hasDbXref UMLS:C0242666 semapv:Unspecifi DOID:2452 thrombophilia oboInOwl:hasDbXref ICD10CM:D68.59 semapv:UnspecifiedMatching DOID:2452 thrombophilia oboInOwl:hasDbXref MESH:D019851 semapv:UnspecifiedMatching DOID:2452 thrombophilia oboInOwl:hasDbXref NCI:C84479 semapv:UnspecifiedMatching -DOID:2452 thrombophilia oboInOwl:hasDbXref OMIMPS:188050 semapv:UnspecifiedMatching DOID:2452 thrombophilia oboInOwl:hasDbXref UMLS:C0398623 semapv:UnspecifiedMatching DOID:2452 thrombophilia skos:exactMatch MESH:D019851 semapv:UnspecifiedMatching -DOID:2452 thrombophilia skos:exactMatch OMIMPS:188050 semapv:UnspecifiedMatching DOID:2455 angular blepharoconjunctivitis oboInOwl:hasDbXref ICD10CM:H10.52 semapv:UnspecifiedMatching DOID:2455 angular blepharoconjunctivitis oboInOwl:hasDbXref ICD9CM:372.21 semapv:UnspecifiedMatching DOID:2455 angular blepharoconjunctivitis oboInOwl:hasDbXref UMLS:C0155149 semapv:UnspecifiedMatching @@ -26751,9 +16163,7 @@ DOID:2476 hereditary spastic paraplegia oboInOwl:hasDbXref ICD10CM:G11.4 semapv: DOID:2476 hereditary spastic paraplegia oboInOwl:hasDbXref ICD9CM:334.1 semapv:UnspecifiedMatching DOID:2476 hereditary spastic paraplegia oboInOwl:hasDbXref MESH:D015419 semapv:UnspecifiedMatching DOID:2476 hereditary spastic paraplegia oboInOwl:hasDbXref NCI:C140267 semapv:UnspecifiedMatching -DOID:2476 hereditary spastic paraplegia oboInOwl:hasDbXref OMIMPS:303350 semapv:UnspecifiedMatching DOID:2476 hereditary spastic paraplegia oboInOwl:hasDbXref UMLS:C0037773 semapv:UnspecifiedMatching -DOID:2476 hereditary spastic paraplegia skos:exactMatch OMIMPS:303350 semapv:UnspecifiedMatching DOID:2477 motor peripheral neuropathy oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:2477 motor peripheral neuropathy oboInOwl:hasDbXref MESH:D015417 semapv:UnspecifiedMatching DOID:2477 motor peripheral neuropathy oboInOwl:hasDbXref NCI:C75467 semapv:UnspecifiedMatching @@ -26799,10 +16209,8 @@ DOID:2508 Takayasu's arteritis oboInOwl:hasDbXref MESH:D001015 semapv:Unspecifie DOID:2508 Takayasu's arteritis oboInOwl:hasDbXref MESH:D013625 semapv:UnspecifiedMatching DOID:2508 Takayasu's arteritis oboInOwl:hasDbXref NCI:C34391 semapv:UnspecifiedMatching DOID:2508 Takayasu's arteritis oboInOwl:hasDbXref NCI:C35062 semapv:UnspecifiedMatching -DOID:2508 Takayasu's arteritis oboInOwl:hasDbXref OMIM:207600 semapv:UnspecifiedMatching DOID:2508 Takayasu's arteritis oboInOwl:hasDbXref UMLS:C0003490 semapv:UnspecifiedMatching DOID:2508 Takayasu's arteritis oboInOwl:hasDbXref UMLS:C0039263 semapv:UnspecifiedMatching -DOID:2508 Takayasu's arteritis skos:exactMatch OMIM:207600 semapv:UnspecifiedMatching DOID:251 alcohol-induced mental disorder oboInOwl:hasDbXref ICD9CM:291.89 semapv:UnspecifiedMatching DOID:251 alcohol-induced mental disorder oboInOwl:hasDbXref UMLS:C1456283 semapv:UnspecifiedMatching DOID:2510 Kluver-Bucy syndrome oboInOwl:hasDbXref MESH:D020232 semapv:UnspecifiedMatching @@ -26812,10 +16220,8 @@ DOID:2512 nevoid basal cell carcinoma syndrome oboInOwl:hasDbXref GARD:7166 sema DOID:2512 nevoid basal cell carcinoma syndrome oboInOwl:hasDbXref MEDDRA:10062804 semapv:UnspecifiedMatching DOID:2512 nevoid basal cell carcinoma syndrome oboInOwl:hasDbXref MESH:D001478 semapv:UnspecifiedMatching DOID:2512 nevoid basal cell carcinoma syndrome oboInOwl:hasDbXref NCI:C2892 semapv:UnspecifiedMatching -DOID:2512 nevoid basal cell carcinoma syndrome oboInOwl:hasDbXref OMIMPS:109400 semapv:UnspecifiedMatching DOID:2512 nevoid basal cell carcinoma syndrome oboInOwl:hasDbXref ORDO:377 semapv:UnspecifiedMatching DOID:2512 nevoid basal cell carcinoma syndrome oboInOwl:hasDbXref UMLS:C0004779 semapv:UnspecifiedMatching -DOID:2512 nevoid basal cell carcinoma syndrome skos:exactMatch OMIMPS:109400 semapv:UnspecifiedMatching DOID:2513 basal cell carcinoma oboInOwl:hasDbXref EFO:0004193 semapv:UnspecifiedMatching DOID:2513 basal cell carcinoma oboInOwl:hasDbXref ICDO:8090/3 semapv:UnspecifiedMatching DOID:2513 basal cell carcinoma oboInOwl:hasDbXref KEGG:05217 semapv:UnspecifiedMatching @@ -26872,10 +16278,8 @@ DOID:2538 Landau-Kleffner syndrome oboInOwl:hasDbXref GARD:6855 semapv:Unspecifi DOID:2538 Landau-Kleffner syndrome oboInOwl:hasDbXref ICD10CM:G40.8 semapv:UnspecifiedMatching DOID:2538 Landau-Kleffner syndrome oboInOwl:hasDbXref MESH:D018887 semapv:UnspecifiedMatching DOID:2538 Landau-Kleffner syndrome oboInOwl:hasDbXref NCI:C84806 semapv:UnspecifiedMatching -DOID:2538 Landau-Kleffner syndrome oboInOwl:hasDbXref OMIM:245570 semapv:UnspecifiedMatching DOID:2538 Landau-Kleffner syndrome oboInOwl:hasDbXref ORDO:98818 semapv:UnspecifiedMatching DOID:2538 Landau-Kleffner syndrome oboInOwl:hasDbXref UMLS:C0282512 semapv:UnspecifiedMatching -DOID:2538 Landau-Kleffner syndrome skos:exactMatch OMIM:245570 semapv:UnspecifiedMatching DOID:254 hemangioma of intra-abdominal structure oboInOwl:hasDbXref ICD10CM:D18.03 semapv:UnspecifiedMatching DOID:254 hemangioma of intra-abdominal structure oboInOwl:hasDbXref ICD9CM:228.04 semapv:UnspecifiedMatching DOID:254 hemangioma of intra-abdominal structure oboInOwl:hasDbXref NCI:C3635 semapv:UnspecifiedMatching @@ -26920,9 +16324,7 @@ DOID:2565 macular corneal dystrophy oboInOwl:hasDbXref ICD10CM:H18.55 semapv:Uns DOID:2565 macular corneal dystrophy oboInOwl:hasDbXref ICD9CM:371.55 semapv:UnspecifiedMatching DOID:2565 macular corneal dystrophy oboInOwl:hasDbXref MESH:D003317 semapv:UnspecifiedMatching DOID:2565 macular corneal dystrophy oboInOwl:hasDbXref NCI:C34793 semapv:UnspecifiedMatching -DOID:2565 macular corneal dystrophy oboInOwl:hasDbXref OMIM:217800 semapv:UnspecifiedMatching DOID:2565 macular corneal dystrophy oboInOwl:hasDbXref UMLS:C0024439 semapv:UnspecifiedMatching -DOID:2565 macular corneal dystrophy skos:exactMatch OMIM:217800 semapv:UnspecifiedMatching DOID:2566 corneal dystrophy oboInOwl:hasDbXref ICD10CM:H18.5 semapv:UnspecifiedMatching DOID:2566 corneal dystrophy oboInOwl:hasDbXref ICD9CM:371.5 semapv:UnspecifiedMatching DOID:2566 corneal dystrophy oboInOwl:hasDbXref MESH:D003317 semapv:UnspecifiedMatching @@ -26949,8 +16351,6 @@ DOID:2571 Langerhans-cell histiocytosis oboInOwl:hasDbXref MESH:C538636 semapv:U DOID:2571 Langerhans-cell histiocytosis oboInOwl:hasDbXref MESH:D006646 semapv:UnspecifiedMatching DOID:2571 Langerhans-cell histiocytosis oboInOwl:hasDbXref NCI:C3107 semapv:UnspecifiedMatching DOID:2571 Langerhans-cell histiocytosis oboInOwl:hasDbXref NCI:C3160 semapv:UnspecifiedMatching -DOID:2571 Langerhans-cell histiocytosis oboInOwl:hasDbXref OMIM:246400 semapv:UnspecifiedMatching -DOID:2571 Langerhans-cell histiocytosis oboInOwl:hasDbXref OMIM:604856 semapv:UnspecifiedMatching DOID:2571 Langerhans-cell histiocytosis oboInOwl:hasDbXref UMLS:C0019621 semapv:UnspecifiedMatching DOID:2571 Langerhans-cell histiocytosis oboInOwl:hasDbXref UMLS:C0023381 semapv:UnspecifiedMatching DOID:2575 barbiturate dependence oboInOwl:hasDbXref ICD9CM:304.11 semapv:UnspecifiedMatching @@ -26959,41 +16359,31 @@ DOID:2580 rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref GARD:13160 sem DOID:2580 rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref ICD10CM:E71.540 semapv:UnspecifiedMatching DOID:2580 rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref MESH:D018902 semapv:UnspecifiedMatching DOID:2580 rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref NCI:C85047 semapv:UnspecifiedMatching -DOID:2580 rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref OMIMPS:215100 semapv:UnspecifiedMatching DOID:2580 rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref ORDO:177 semapv:UnspecifiedMatching DOID:2580 rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref UMLS:C0282529 semapv:UnspecifiedMatching -DOID:2580 rhizomelic chondrodysplasia punctata skos:exactMatch OMIMPS:215100 semapv:UnspecifiedMatching DOID:2581 chondrodysplasia punctata oboInOwl:hasDbXref GARD:8542 semapv:UnspecifiedMatching DOID:2581 chondrodysplasia punctata oboInOwl:hasDbXref ICD10CM:Q77.3 semapv:UnspecifiedMatching DOID:2581 chondrodysplasia punctata oboInOwl:hasDbXref MESH:D002806 semapv:UnspecifiedMatching DOID:2581 chondrodysplasia punctata oboInOwl:hasDbXref NCI:C84632 semapv:UnspecifiedMatching -DOID:2581 chondrodysplasia punctata oboInOwl:hasDbXref OMIM:215105 semapv:UnspecifiedMatching DOID:2581 chondrodysplasia punctata oboInOwl:hasDbXref ORDO:93442 semapv:UnspecifiedMatching DOID:2581 chondrodysplasia punctata oboInOwl:hasDbXref UMLS:C0008445 semapv:UnspecifiedMatching -DOID:2581 chondrodysplasia punctata skos:exactMatch OMIM:215105 semapv:UnspecifiedMatching DOID:2581 chondrodysplasia punctata skos:narrowMatch MESH:D002806 semapv:UnspecifiedMatching DOID:2582 acatalasia oboInOwl:hasDbXref GARD:363 semapv:UnspecifiedMatching DOID:2582 acatalasia oboInOwl:hasDbXref MESH:D020642 semapv:UnspecifiedMatching DOID:2582 acatalasia oboInOwl:hasDbXref NCI:C84526 semapv:UnspecifiedMatching -DOID:2582 acatalasia oboInOwl:hasDbXref OMIM:614097 semapv:UnspecifiedMatching DOID:2582 acatalasia oboInOwl:hasDbXref ORDO:926 semapv:UnspecifiedMatching DOID:2582 acatalasia oboInOwl:hasDbXref UMLS:C0268419 semapv:UnspecifiedMatching -DOID:2582 acatalasia skos:exactMatch OMIM:614097 semapv:UnspecifiedMatching DOID:2583 agammaglobulinemia oboInOwl:hasDbXref ICD10CM:D80.1 semapv:UnspecifiedMatching DOID:2583 agammaglobulinemia oboInOwl:hasDbXref ICD9CM:279.00 semapv:UnspecifiedMatching DOID:2583 agammaglobulinemia oboInOwl:hasDbXref MESH:D000361 semapv:UnspecifiedMatching DOID:2583 agammaglobulinemia oboInOwl:hasDbXref NCI:C26931 semapv:UnspecifiedMatching -DOID:2583 agammaglobulinemia oboInOwl:hasDbXref OMIMPS:601495 semapv:UnspecifiedMatching DOID:2583 agammaglobulinemia oboInOwl:hasDbXref UMLS:C0001768 semapv:UnspecifiedMatching DOID:2583 agammaglobulinemia oboInOwl:hasDbXref UMLS:C0086438 semapv:UnspecifiedMatching DOID:2583 agammaglobulinemia skos:exactMatch MESH:D000361 semapv:UnspecifiedMatching -DOID:2583 agammaglobulinemia skos:exactMatch OMIMPS:601495 semapv:UnspecifiedMatching DOID:2590 familial nephrotic syndrome oboInOwl:hasDbXref ICD10CM:N04 semapv:UnspecifiedMatching DOID:2590 familial nephrotic syndrome oboInOwl:hasDbXref MESH:C535761 semapv:UnspecifiedMatching DOID:2590 familial nephrotic syndrome oboInOwl:hasDbXref NCI:C35337 semapv:UnspecifiedMatching -DOID:2590 familial nephrotic syndrome oboInOwl:hasDbXref OMIMPS:256300 semapv:UnspecifiedMatching DOID:2590 familial nephrotic syndrome oboInOwl:hasDbXref UMLS:C3501848 semapv:UnspecifiedMatching -DOID:2590 familial nephrotic syndrome skos:exactMatch OMIMPS:256300 semapv:UnspecifiedMatching DOID:2595 glottis cancer oboInOwl:hasDbXref ICD10CM:C32.0 semapv:UnspecifiedMatching DOID:2595 glottis cancer oboInOwl:hasDbXref ICD9CM:161.0 semapv:UnspecifiedMatching DOID:2595 glottis cancer oboInOwl:hasDbXref NCI:C3544 semapv:UnspecifiedMatching @@ -27053,10 +16443,8 @@ DOID:2626 choroid plexus papilloma oboInOwl:hasDbXref ICDO:9390/0 semapv:Unspeci DOID:2626 choroid plexus papilloma oboInOwl:hasDbXref MESH:D020288 semapv:UnspecifiedMatching DOID:2626 choroid plexus papilloma oboInOwl:hasDbXref NCI:C3698 semapv:UnspecifiedMatching DOID:2626 choroid plexus papilloma oboInOwl:hasDbXref NCI:C5800 semapv:UnspecifiedMatching -DOID:2626 choroid plexus papilloma oboInOwl:hasDbXref OMIM:260500 semapv:UnspecifiedMatching DOID:2626 choroid plexus papilloma oboInOwl:hasDbXref UMLS:C0205770 semapv:UnspecifiedMatching DOID:2626 choroid plexus papilloma oboInOwl:hasDbXref UMLS:C1332963 semapv:UnspecifiedMatching -DOID:2626 choroid plexus papilloma skos:exactMatch OMIM:260500 semapv:UnspecifiedMatching DOID:263 kidney cancer oboInOwl:hasDbXref ICD10CM:C64 semapv:UnspecifiedMatching DOID:263 kidney cancer oboInOwl:hasDbXref ICD9CM:189.0 semapv:UnspecifiedMatching DOID:263 kidney cancer oboInOwl:hasDbXref MESH:D007680 semapv:UnspecifiedMatching @@ -27223,10 +16611,8 @@ DOID:2712 phimosis oboInOwl:hasDbXref NCI:C26852 semapv:UnspecifiedMatching DOID:2712 phimosis oboInOwl:hasDbXref UMLS:C0031538 semapv:UnspecifiedMatching DOID:2717 Bloom syndrome oboInOwl:hasDbXref MESH:D001816 semapv:UnspecifiedMatching DOID:2717 Bloom syndrome oboInOwl:hasDbXref NCI:C2903 semapv:UnspecifiedMatching -DOID:2717 Bloom syndrome oboInOwl:hasDbXref OMIM:210900 semapv:UnspecifiedMatching DOID:2717 Bloom syndrome oboInOwl:hasDbXref ORDO:125 semapv:UnspecifiedMatching DOID:2717 Bloom syndrome oboInOwl:hasDbXref UMLS:C0005859 semapv:UnspecifiedMatching -DOID:2717 Bloom syndrome skos:exactMatch OMIM:210900 semapv:UnspecifiedMatching DOID:2718 hemopneumothorax oboInOwl:hasDbXref ICD10CM:J94.2 semapv:UnspecifiedMatching DOID:2718 hemopneumothorax oboInOwl:hasDbXref MESH:D006468 semapv:UnspecifiedMatching DOID:2718 hemopneumothorax oboInOwl:hasDbXref UMLS:C0019077 semapv:UnspecifiedMatching @@ -27249,10 +16635,8 @@ DOID:2725 capillary hemangioma oboInOwl:hasDbXref UMLS:C0206733 semapv:Unspecifi DOID:2729 dyskeratosis congenita oboInOwl:hasDbXref GARD:10905 semapv:UnspecifiedMatching DOID:2729 dyskeratosis congenita oboInOwl:hasDbXref MESH:D019871 semapv:UnspecifiedMatching DOID:2729 dyskeratosis congenita oboInOwl:hasDbXref NCI:C111802 semapv:UnspecifiedMatching -DOID:2729 dyskeratosis congenita oboInOwl:hasDbXref OMIMPS:127550 semapv:UnspecifiedMatching DOID:2729 dyskeratosis congenita oboInOwl:hasDbXref ORDO:1775 semapv:UnspecifiedMatching DOID:2729 dyskeratosis congenita oboInOwl:hasDbXref UMLS:C0265965 semapv:UnspecifiedMatching -DOID:2729 dyskeratosis congenita skos:exactMatch OMIMPS:127550 semapv:UnspecifiedMatching DOID:2730 epidermolysis bullosa oboInOwl:hasDbXref GARD:6359 semapv:UnspecifiedMatching DOID:2730 epidermolysis bullosa oboInOwl:hasDbXref ICD10CM:Q81 semapv:UnspecifiedMatching DOID:2730 epidermolysis bullosa oboInOwl:hasDbXref MESH:D004820 semapv:UnspecifiedMatching @@ -27264,42 +16648,32 @@ DOID:2732 Rothmund-Thomson syndrome oboInOwl:hasDbXref GARD:4392 semapv:Unspecif DOID:2732 Rothmund-Thomson syndrome oboInOwl:hasDbXref ICD10CM:Q82.8 semapv:UnspecifiedMatching DOID:2732 Rothmund-Thomson syndrome oboInOwl:hasDbXref MESH:D011038 semapv:UnspecifiedMatching DOID:2732 Rothmund-Thomson syndrome oboInOwl:hasDbXref NCI:C3335 semapv:UnspecifiedMatching -DOID:2732 Rothmund-Thomson syndrome oboInOwl:hasDbXref OMIM:268400 semapv:UnspecifiedMatching DOID:2732 Rothmund-Thomson syndrome oboInOwl:hasDbXref UMLS:C0032339 semapv:UnspecifiedMatching DOID:2732 Rothmund-Thomson syndrome skos:exactMatch MESH:D011038 semapv:UnspecifiedMatching -DOID:2732 Rothmund-Thomson syndrome skos:exactMatch OMIM:268400 semapv:UnspecifiedMatching DOID:2733 skin atrophy oboInOwl:hasDbXref ICD10CM:L90 semapv:UnspecifiedMatching DOID:2733 skin atrophy oboInOwl:hasDbXref NCI:C35163 semapv:UnspecifiedMatching DOID:2733 skin atrophy oboInOwl:hasDbXref UMLS:C0151514 semapv:UnspecifiedMatching DOID:2734 keratosis follicularis oboInOwl:hasDbXref ICD10CM:E50.8 semapv:UnspecifiedMatching DOID:2734 keratosis follicularis oboInOwl:hasDbXref MESH:D007644 semapv:UnspecifiedMatching DOID:2734 keratosis follicularis oboInOwl:hasDbXref NCI:C84665 semapv:UnspecifiedMatching -DOID:2734 keratosis follicularis oboInOwl:hasDbXref OMIM:124200 semapv:UnspecifiedMatching DOID:2734 keratosis follicularis oboInOwl:hasDbXref UMLS:C0022595 semapv:UnspecifiedMatching -DOID:2734 keratosis follicularis skos:exactMatch OMIM:124200 semapv:UnspecifiedMatching DOID:2736 Hajdu-Cheney syndrome oboInOwl:hasDbXref GARD:508 semapv:UnspecifiedMatching DOID:2736 Hajdu-Cheney syndrome oboInOwl:hasDbXref MESH:D030981 semapv:UnspecifiedMatching DOID:2736 Hajdu-Cheney syndrome oboInOwl:hasDbXref MESH:D031845 semapv:UnspecifiedMatching DOID:2736 Hajdu-Cheney syndrome oboInOwl:hasDbXref NCI:C35545 semapv:UnspecifiedMatching DOID:2736 Hajdu-Cheney syndrome oboInOwl:hasDbXref NCI:C84745 semapv:UnspecifiedMatching -DOID:2736 Hajdu-Cheney syndrome oboInOwl:hasDbXref OMIM:102500 semapv:UnspecifiedMatching DOID:2736 Hajdu-Cheney syndrome oboInOwl:hasDbXref UMLS:C0917715 semapv:UnspecifiedMatching DOID:2736 Hajdu-Cheney syndrome oboInOwl:hasDbXref UMLS:C0917990 semapv:UnspecifiedMatching -DOID:2736 Hajdu-Cheney syndrome skos:exactMatch OMIM:102500 semapv:UnspecifiedMatching DOID:2738 pseudoxanthoma elasticum oboInOwl:hasDbXref GARD:9643 semapv:UnspecifiedMatching DOID:2738 pseudoxanthoma elasticum oboInOwl:hasDbXref MESH:D011561 semapv:UnspecifiedMatching DOID:2738 pseudoxanthoma elasticum oboInOwl:hasDbXref NCI:C85036 semapv:UnspecifiedMatching -DOID:2738 pseudoxanthoma elasticum oboInOwl:hasDbXref OMIM:177850 semapv:UnspecifiedMatching -DOID:2738 pseudoxanthoma elasticum oboInOwl:hasDbXref OMIM:264800 semapv:UnspecifiedMatching DOID:2738 pseudoxanthoma elasticum oboInOwl:hasDbXref ORDO:758 semapv:UnspecifiedMatching DOID:2738 pseudoxanthoma elasticum oboInOwl:hasDbXref UMLS:C0033847 semapv:UnspecifiedMatching DOID:2739 Gilbert syndrome oboInOwl:hasDbXref GARD:6507 semapv:UnspecifiedMatching DOID:2739 Gilbert syndrome oboInOwl:hasDbXref ICD10CM:E80.4 semapv:UnspecifiedMatching DOID:2739 Gilbert syndrome oboInOwl:hasDbXref MESH:D005878 semapv:UnspecifiedMatching DOID:2739 Gilbert syndrome oboInOwl:hasDbXref NCI:C84729 semapv:UnspecifiedMatching -DOID:2739 Gilbert syndrome oboInOwl:hasDbXref OMIM:143500 semapv:UnspecifiedMatching DOID:2739 Gilbert syndrome oboInOwl:hasDbXref UMLS:C0017551 semapv:UnspecifiedMatching -DOID:2739 Gilbert syndrome skos:exactMatch OMIM:143500 semapv:UnspecifiedMatching DOID:2741 bilirubin metabolic disorder oboInOwl:hasDbXref MESH:D006932 semapv:UnspecifiedMatching DOID:2741 bilirubin metabolic disorder oboInOwl:hasDbXref MESH:D006933 semapv:UnspecifiedMatching DOID:2741 bilirubin metabolic disorder oboInOwl:hasDbXref NCI:C84761 semapv:UnspecifiedMatching @@ -27326,10 +16700,8 @@ DOID:2746 glycogen storage disease V oboInOwl:hasDbXref GARD:6528 semapv:Unspeci DOID:2746 glycogen storage disease V oboInOwl:hasDbXref ICD10CM:E74.04 semapv:UnspecifiedMatching DOID:2746 glycogen storage disease V oboInOwl:hasDbXref MESH:D006012 semapv:UnspecifiedMatching DOID:2746 glycogen storage disease V oboInOwl:hasDbXref NCI:C84738 semapv:UnspecifiedMatching -DOID:2746 glycogen storage disease V oboInOwl:hasDbXref OMIM:232600 semapv:UnspecifiedMatching DOID:2746 glycogen storage disease V oboInOwl:hasDbXref ORDO:368 semapv:UnspecifiedMatching DOID:2746 glycogen storage disease V oboInOwl:hasDbXref UMLS:C0017924 semapv:UnspecifiedMatching -DOID:2746 glycogen storage disease V skos:exactMatch OMIM:232600 semapv:UnspecifiedMatching DOID:2747 glycogen storage disease oboInOwl:hasDbXref ICD10CM:E74.0 semapv:UnspecifiedMatching DOID:2747 glycogen storage disease oboInOwl:hasDbXref ICD9CM:271.0 semapv:UnspecifiedMatching DOID:2747 glycogen storage disease oboInOwl:hasDbXref MESH:D006008 semapv:UnspecifiedMatching @@ -27338,38 +16710,28 @@ DOID:2747 glycogen storage disease oboInOwl:hasDbXref UMLS:C0017919 semapv:Unspe DOID:2748 glycogen storage disease III oboInOwl:hasDbXref ICD10CM:E74.03 semapv:UnspecifiedMatching DOID:2748 glycogen storage disease III oboInOwl:hasDbXref MESH:D006010 semapv:UnspecifiedMatching DOID:2748 glycogen storage disease III oboInOwl:hasDbXref NCI:C84736 semapv:UnspecifiedMatching -DOID:2748 glycogen storage disease III oboInOwl:hasDbXref OMIM:232400 semapv:UnspecifiedMatching DOID:2748 glycogen storage disease III oboInOwl:hasDbXref UMLS:C0017922 semapv:UnspecifiedMatching -DOID:2748 glycogen storage disease III skos:exactMatch OMIM:232400 semapv:UnspecifiedMatching DOID:2749 glycogen storage disease Ia oboInOwl:hasDbXref GARD:7864 semapv:UnspecifiedMatching -DOID:2749 glycogen storage disease Ia oboInOwl:hasDbXref OMIM:232200 semapv:UnspecifiedMatching DOID:2749 glycogen storage disease Ia oboInOwl:hasDbXref ORDO:79258 semapv:UnspecifiedMatching -DOID:2749 glycogen storage disease Ia skos:exactMatch OMIM:232200 semapv:UnspecifiedMatching DOID:275 gastric hemangioma oboInOwl:hasDbXref NCI:C5481 semapv:UnspecifiedMatching DOID:275 gastric hemangioma oboInOwl:hasDbXref UMLS:C1333770 semapv:UnspecifiedMatching DOID:2750 glycogen storage disease IV oboInOwl:hasDbXref GARD:2520 semapv:UnspecifiedMatching DOID:2750 glycogen storage disease IV oboInOwl:hasDbXref ICD10CM:E74.09 semapv:UnspecifiedMatching DOID:2750 glycogen storage disease IV oboInOwl:hasDbXref MESH:D006011 semapv:UnspecifiedMatching DOID:2750 glycogen storage disease IV oboInOwl:hasDbXref NCI:C84737 semapv:UnspecifiedMatching -DOID:2750 glycogen storage disease IV oboInOwl:hasDbXref OMIM:232500 semapv:UnspecifiedMatching DOID:2750 glycogen storage disease IV oboInOwl:hasDbXref UMLS:C0017923 semapv:UnspecifiedMatching -DOID:2750 glycogen storage disease IV skos:exactMatch OMIM:232500 semapv:UnspecifiedMatching DOID:2751 glycogen storage disease VIII oboInOwl:hasDbXref MESH:D006015 semapv:UnspecifiedMatching DOID:2751 glycogen storage disease VIII oboInOwl:hasDbXref UMLS:C0017927 semapv:UnspecifiedMatching DOID:2752 glycogen storage disease II oboInOwl:hasDbXref GARD:5714 semapv:UnspecifiedMatching DOID:2752 glycogen storage disease II oboInOwl:hasDbXref ICD10CM:E74.02 semapv:UnspecifiedMatching DOID:2752 glycogen storage disease II oboInOwl:hasDbXref MESH:D006009 semapv:UnspecifiedMatching DOID:2752 glycogen storage disease II oboInOwl:hasDbXref NCI:C84734 semapv:UnspecifiedMatching -DOID:2752 glycogen storage disease II oboInOwl:hasDbXref OMIM:232300 semapv:UnspecifiedMatching DOID:2752 glycogen storage disease II oboInOwl:hasDbXref UMLS:C0017921 semapv:UnspecifiedMatching -DOID:2752 glycogen storage disease II skos:exactMatch OMIM:232300 semapv:UnspecifiedMatching DOID:2754 glycogen storage disease VI oboInOwl:hasDbXref ICD10CM:E74.09 semapv:UnspecifiedMatching DOID:2754 glycogen storage disease VI oboInOwl:hasDbXref MESH:D006013 semapv:UnspecifiedMatching DOID:2754 glycogen storage disease VI oboInOwl:hasDbXref NCI:C126875 semapv:UnspecifiedMatching -DOID:2754 glycogen storage disease VI oboInOwl:hasDbXref OMIM:232700 semapv:UnspecifiedMatching DOID:2754 glycogen storage disease VI oboInOwl:hasDbXref ORDO:369 semapv:UnspecifiedMatching DOID:2754 glycogen storage disease VI oboInOwl:hasDbXref UMLS:C0017925 semapv:UnspecifiedMatching -DOID:2754 glycogen storage disease VI skos:exactMatch OMIM:232700 semapv:UnspecifiedMatching DOID:2755 Mycobacterium avium complex disease oboInOwl:hasDbXref GARD:7123 semapv:UnspecifiedMatching DOID:2755 Mycobacterium avium complex disease oboInOwl:hasDbXref MESH:D015270 semapv:UnspecifiedMatching DOID:2755 Mycobacterium avium complex disease oboInOwl:hasDbXref NCI:C36197 semapv:UnspecifiedMatching @@ -27410,9 +16772,7 @@ DOID:2773 contact dermatitis oboInOwl:hasDbXref NCI:C26743 semapv:UnspecifiedMat DOID:2773 contact dermatitis oboInOwl:hasDbXref UMLS:C0011616 semapv:UnspecifiedMatching DOID:2775 long bone adamantinoma oboInOwl:hasDbXref MESH:D050398 semapv:UnspecifiedMatching DOID:2775 long bone adamantinoma oboInOwl:hasDbXref NCI:C7644 semapv:UnspecifiedMatching -DOID:2775 long bone adamantinoma oboInOwl:hasDbXref OMIM:102660 semapv:UnspecifiedMatching DOID:2775 long bone adamantinoma oboInOwl:hasDbXref UMLS:C0334556 semapv:UnspecifiedMatching -DOID:2775 long bone adamantinoma skos:exactMatch OMIM:102660 semapv:UnspecifiedMatching DOID:2776 adamantinoma oboInOwl:hasDbXref MESH:D050398 semapv:UnspecifiedMatching DOID:2776 adamantinoma oboInOwl:hasDbXref NCI:C7644 semapv:UnspecifiedMatching DOID:2776 adamantinoma oboInOwl:hasDbXref ORDO:55881 semapv:UnspecifiedMatching @@ -27432,9 +16792,7 @@ DOID:2785 Dandy-Walker syndrome oboInOwl:hasDbXref GARD:6242 semapv:UnspecifiedM DOID:2785 Dandy-Walker syndrome oboInOwl:hasDbXref ICD10CM:Q03.1 semapv:UnspecifiedMatching DOID:2785 Dandy-Walker syndrome oboInOwl:hasDbXref MESH:D003616 semapv:UnspecifiedMatching DOID:2785 Dandy-Walker syndrome oboInOwl:hasDbXref NCI:C75012 semapv:UnspecifiedMatching -DOID:2785 Dandy-Walker syndrome oboInOwl:hasDbXref OMIM:220200 semapv:UnspecifiedMatching DOID:2785 Dandy-Walker syndrome oboInOwl:hasDbXref UMLS:C0010964 semapv:UnspecifiedMatching -DOID:2785 Dandy-Walker syndrome skos:exactMatch OMIM:220200 semapv:UnspecifiedMatching DOID:2786 cerebellar disease oboInOwl:hasDbXref MESH:D002526 semapv:UnspecifiedMatching DOID:2786 cerebellar disease oboInOwl:hasDbXref UMLS:C0007760 semapv:UnspecifiedMatching DOID:2789 parasitic protozoa infectious disease oboInOwl:hasDbXref ICD10CM:B64 semapv:UnspecifiedMatching @@ -27511,25 +16869,19 @@ DOID:2841 asthma oboInOwl:hasDbXref ICD9CM:493 semapv:UnspecifiedMatching DOID:2841 asthma oboInOwl:hasDbXref KEGG:05310 semapv:UnspecifiedMatching DOID:2841 asthma oboInOwl:hasDbXref MESH:D001249 semapv:UnspecifiedMatching DOID:2841 asthma oboInOwl:hasDbXref NCI:C28397 semapv:UnspecifiedMatching -DOID:2841 asthma oboInOwl:hasDbXref OMIM:600807 semapv:UnspecifiedMatching DOID:2841 asthma oboInOwl:hasDbXref UMLS:C0004096 semapv:UnspecifiedMatching DOID:2841 asthma skos:exactMatch MESH:D001249 semapv:UnspecifiedMatching -DOID:2841 asthma skos:exactMatch OMIM:600807 semapv:UnspecifiedMatching DOID:2842 Jervell-Lange Nielsen syndrome oboInOwl:hasDbXref GARD:3048 semapv:UnspecifiedMatching DOID:2842 Jervell-Lange Nielsen syndrome oboInOwl:hasDbXref MESH:D029593 semapv:UnspecifiedMatching DOID:2842 Jervell-Lange Nielsen syndrome oboInOwl:hasDbXref NCI:C84793 semapv:UnspecifiedMatching -DOID:2842 Jervell-Lange Nielsen syndrome oboInOwl:hasDbXref OMIM:220400 semapv:UnspecifiedMatching -DOID:2842 Jervell-Lange Nielsen syndrome oboInOwl:hasDbXref OMIM:612347 semapv:UnspecifiedMatching DOID:2842 Jervell-Lange Nielsen syndrome oboInOwl:hasDbXref UMLS:C0022387 semapv:UnspecifiedMatching DOID:2843 long QT syndrome oboInOwl:hasDbXref GARD:6922 semapv:UnspecifiedMatching DOID:2843 long QT syndrome oboInOwl:hasDbXref ICD10CM:I45.81 semapv:UnspecifiedMatching DOID:2843 long QT syndrome oboInOwl:hasDbXref ICD9CM:426.82 semapv:UnspecifiedMatching DOID:2843 long QT syndrome oboInOwl:hasDbXref MESH:D008133 semapv:UnspecifiedMatching DOID:2843 long QT syndrome oboInOwl:hasDbXref NCI:C34786 semapv:UnspecifiedMatching -DOID:2843 long QT syndrome oboInOwl:hasDbXref OMIMPS:192500 semapv:UnspecifiedMatching DOID:2843 long QT syndrome oboInOwl:hasDbXref ORDO:768 semapv:UnspecifiedMatching DOID:2843 long QT syndrome oboInOwl:hasDbXref UMLS:C0023976 semapv:UnspecifiedMatching -DOID:2843 long QT syndrome skos:exactMatch OMIMPS:192500 semapv:UnspecifiedMatching DOID:2843 long QT syndrome skos:narrowMatch ORDO:101016 semapv:UnspecifiedMatching DOID:2846 bruxism oboInOwl:hasDbXref ICD10CM:F45.8 semapv:UnspecifiedMatching DOID:2846 bruxism oboInOwl:hasDbXref ICD10CM:G47.63 semapv:UnspecifiedMatching @@ -27566,10 +16918,6 @@ DOID:2860 hemoglobinopathy oboInOwl:hasDbXref MESH:D006453 semapv:UnspecifiedMat DOID:2860 hemoglobinopathy oboInOwl:hasDbXref NCI:C3092 semapv:UnspecifiedMatching DOID:2860 hemoglobinopathy oboInOwl:hasDbXref UMLS:C0019045 semapv:UnspecifiedMatching DOID:2861 congenital nonspherocytic hemolytic anemia oboInOwl:hasDbXref MESH:D000746 semapv:UnspecifiedMatching -DOID:2861 congenital nonspherocytic hemolytic anemia oboInOwl:hasDbXref OMIM:206300 semapv:UnspecifiedMatching -DOID:2861 congenital nonspherocytic hemolytic anemia oboInOwl:hasDbXref OMIM:206400 semapv:UnspecifiedMatching -DOID:2861 congenital nonspherocytic hemolytic anemia oboInOwl:hasDbXref OMIM:300908 semapv:UnspecifiedMatching -DOID:2861 congenital nonspherocytic hemolytic anemia oboInOwl:hasDbXref OMIM:613470 semapv:UnspecifiedMatching DOID:2861 congenital nonspherocytic hemolytic anemia oboInOwl:hasDbXref ORDO:712 semapv:UnspecifiedMatching DOID:2861 congenital nonspherocytic hemolytic anemia oboInOwl:hasDbXref UMLS:C0002882 semapv:UnspecifiedMatching DOID:2862 glucosephosphate dehydrogenase deficiency oboInOwl:hasDbXref GARD:6520 semapv:UnspecifiedMatching @@ -27597,9 +16945,7 @@ DOID:2879 nodular degeneration of cornea oboInOwl:hasDbXref ICD9CM:371.46 semapv DOID:2879 nodular degeneration of cornea oboInOwl:hasDbXref UMLS:C0155122 semapv:UnspecifiedMatching DOID:288 endometriosis of uterus oboInOwl:hasDbXref ICD10CM:N80.0 semapv:UnspecifiedMatching DOID:288 endometriosis of uterus oboInOwl:hasDbXref ICD9CM:617.0 semapv:UnspecifiedMatching -DOID:288 endometriosis of uterus oboInOwl:hasDbXref OMIM:600458 semapv:UnspecifiedMatching DOID:288 endometriosis of uterus oboInOwl:hasDbXref UMLS:C0341858 semapv:UnspecifiedMatching -DOID:288 endometriosis of uterus skos:exactMatch OMIM:600458 semapv:UnspecifiedMatching DOID:2883 prostatic adenoma oboInOwl:hasDbXref MESH:D011470 semapv:UnspecifiedMatching DOID:2883 prostatic adenoma oboInOwl:hasDbXref NCI:C4795 semapv:UnspecifiedMatching DOID:2883 prostatic adenoma oboInOwl:hasDbXref UMLS:C0520477 semapv:UnspecifiedMatching @@ -27628,18 +16974,14 @@ DOID:2907 Goldenhar syndrome oboInOwl:hasDbXref GARD:6540 semapv:UnspecifiedMatc DOID:2907 Goldenhar syndrome oboInOwl:hasDbXref ICD10CM:Q87.0 semapv:UnspecifiedMatching DOID:2907 Goldenhar syndrome oboInOwl:hasDbXref MESH:D006053 semapv:UnspecifiedMatching DOID:2907 Goldenhar syndrome oboInOwl:hasDbXref NCI:C84740 semapv:UnspecifiedMatching -DOID:2907 Goldenhar syndrome oboInOwl:hasDbXref OMIM:164210 semapv:UnspecifiedMatching DOID:2907 Goldenhar syndrome oboInOwl:hasDbXref ORDO:374 semapv:UnspecifiedMatching DOID:2907 Goldenhar syndrome oboInOwl:hasDbXref UMLS:C0265240 semapv:UnspecifiedMatching -DOID:2907 Goldenhar syndrome skos:exactMatch OMIM:164210 semapv:UnspecifiedMatching DOID:2908 Treacher Collins syndrome oboInOwl:hasDbXref GARD:9124 semapv:UnspecifiedMatching DOID:2908 Treacher Collins syndrome oboInOwl:hasDbXref ICD10CM:Q75.4 semapv:UnspecifiedMatching DOID:2908 Treacher Collins syndrome oboInOwl:hasDbXref MESH:D008342 semapv:UnspecifiedMatching DOID:2908 Treacher Collins syndrome oboInOwl:hasDbXref NCI:C75018 semapv:UnspecifiedMatching -DOID:2908 Treacher Collins syndrome oboInOwl:hasDbXref OMIMPS:154500 semapv:UnspecifiedMatching DOID:2908 Treacher Collins syndrome oboInOwl:hasDbXref UMLS:C0242387 semapv:UnspecifiedMatching DOID:2908 Treacher Collins syndrome skos:exactMatch MESH:D008342 semapv:UnspecifiedMatching -DOID:2908 Treacher Collins syndrome skos:exactMatch OMIMPS:154500 semapv:UnspecifiedMatching DOID:2913 acute pancreatitis oboInOwl:hasDbXref ICD10CM:K85 semapv:UnspecifiedMatching DOID:2913 acute pancreatitis oboInOwl:hasDbXref ICD9CM:577.0 semapv:UnspecifiedMatching DOID:2913 acute pancreatitis oboInOwl:hasDbXref MESH:D010195 semapv:UnspecifiedMatching @@ -27662,9 +17004,7 @@ DOID:292 lacrimal system cancer oboInOwl:hasDbXref UMLS:C1334361 semapv:Unspecif DOID:2920 membranoproliferative glomerulonephritis oboInOwl:hasDbXref GARD:11982 semapv:UnspecifiedMatching DOID:2920 membranoproliferative glomerulonephritis oboInOwl:hasDbXref MESH:D015432 semapv:UnspecifiedMatching DOID:2920 membranoproliferative glomerulonephritis oboInOwl:hasDbXref NCI:C34644 semapv:UnspecifiedMatching -DOID:2920 membranoproliferative glomerulonephritis oboInOwl:hasDbXref OMIM:305800 semapv:UnspecifiedMatching DOID:2920 membranoproliferative glomerulonephritis oboInOwl:hasDbXref UMLS:C0017662 semapv:UnspecifiedMatching -DOID:2920 membranoproliferative glomerulonephritis skos:exactMatch OMIM:305800 semapv:UnspecifiedMatching DOID:2921 glomerulonephritis oboInOwl:hasDbXref GARD:6516 semapv:UnspecifiedMatching DOID:2921 glomerulonephritis oboInOwl:hasDbXref ICD10CM:N08 semapv:UnspecifiedMatching DOID:2921 glomerulonephritis oboInOwl:hasDbXref MESH:D005921 semapv:UnspecifiedMatching @@ -27673,10 +17013,8 @@ DOID:2921 glomerulonephritis oboInOwl:hasDbXref UMLS:C0017658 semapv:Unspecified DOID:2926 Klippel-Trenaunay syndrome oboInOwl:hasDbXref ICD10CM:Q87.2 semapv:UnspecifiedMatching DOID:2926 Klippel-Trenaunay syndrome oboInOwl:hasDbXref MESH:D007715 semapv:UnspecifiedMatching DOID:2926 Klippel-Trenaunay syndrome oboInOwl:hasDbXref NCI:C84801 semapv:UnspecifiedMatching -DOID:2926 Klippel-Trenaunay syndrome oboInOwl:hasDbXref OMIM:149000 semapv:UnspecifiedMatching DOID:2926 Klippel-Trenaunay syndrome oboInOwl:hasDbXref ORDO:90308 semapv:UnspecifiedMatching DOID:2926 Klippel-Trenaunay syndrome oboInOwl:hasDbXref UMLS:C0022739 semapv:UnspecifiedMatching -DOID:2926 Klippel-Trenaunay syndrome skos:exactMatch OMIM:149000 semapv:UnspecifiedMatching DOID:2929 Newcastle disease oboInOwl:hasDbXref MESH:D009521 semapv:UnspecifiedMatching DOID:2929 Newcastle disease oboInOwl:hasDbXref NCI:C34849 semapv:UnspecifiedMatching DOID:2929 Newcastle disease oboInOwl:hasDbXref UMLS:C0027983 semapv:UnspecifiedMatching @@ -27689,10 +17027,8 @@ DOID:2935 Chediak-Higashi syndrome oboInOwl:hasDbXref GARD:6035 semapv:Unspecifi DOID:2935 Chediak-Higashi syndrome oboInOwl:hasDbXref ICD10CM:E70.330 semapv:UnspecifiedMatching DOID:2935 Chediak-Higashi syndrome oboInOwl:hasDbXref MESH:D002609 semapv:UnspecifiedMatching DOID:2935 Chediak-Higashi syndrome oboInOwl:hasDbXref NCI:C2941 semapv:UnspecifiedMatching -DOID:2935 Chediak-Higashi syndrome oboInOwl:hasDbXref OMIM:214500 semapv:UnspecifiedMatching DOID:2935 Chediak-Higashi syndrome oboInOwl:hasDbXref ORDO:167 semapv:UnspecifiedMatching DOID:2935 Chediak-Higashi syndrome oboInOwl:hasDbXref UMLS:C0007965 semapv:UnspecifiedMatching -DOID:2935 Chediak-Higashi syndrome skos:exactMatch OMIM:214500 semapv:UnspecifiedMatching DOID:2938 Epstein-Barr virus infectious disease oboInOwl:hasDbXref MESH:D020031 semapv:UnspecifiedMatching DOID:2938 Epstein-Barr virus infectious disease oboInOwl:hasDbXref NCI:C38759 semapv:UnspecifiedMatching DOID:2938 Epstein-Barr virus infectious disease oboInOwl:hasDbXref UMLS:C0149678 semapv:UnspecifiedMatching @@ -27720,9 +17056,7 @@ DOID:2951 motion sickness oboInOwl:hasDbXref ICD10CM:T75.3 semapv:UnspecifiedMat DOID:2951 motion sickness oboInOwl:hasDbXref ICD9CM:994.6 semapv:UnspecifiedMatching DOID:2951 motion sickness oboInOwl:hasDbXref MESH:D009041 semapv:UnspecifiedMatching DOID:2951 motion sickness oboInOwl:hasDbXref NCI:C34824 semapv:UnspecifiedMatching -DOID:2951 motion sickness oboInOwl:hasDbXref OMIM:158280 semapv:UnspecifiedMatching DOID:2951 motion sickness oboInOwl:hasDbXref UMLS:C0026603 semapv:UnspecifiedMatching -DOID:2951 motion sickness skos:exactMatch OMIM:158280 semapv:UnspecifiedMatching DOID:2952 inner ear disease oboInOwl:hasDbXref ICD10CM:H83.9 semapv:UnspecifiedMatching DOID:2952 inner ear disease oboInOwl:hasDbXref MESH:D007759 semapv:UnspecifiedMatching DOID:2952 inner ear disease oboInOwl:hasDbXref NCI:C128369 semapv:UnspecifiedMatching @@ -27769,11 +17103,9 @@ DOID:2977 primary hyperoxaluria oboInOwl:hasDbXref ICD10CM:R82.992 semapv:Unspec DOID:2977 primary hyperoxaluria oboInOwl:hasDbXref MESH:D006959 semapv:UnspecifiedMatching DOID:2977 primary hyperoxaluria oboInOwl:hasDbXref MESH:D006960 semapv:UnspecifiedMatching DOID:2977 primary hyperoxaluria oboInOwl:hasDbXref NCI:C123158 semapv:UnspecifiedMatching -DOID:2977 primary hyperoxaluria oboInOwl:hasDbXref OMIMPS:259900 semapv:UnspecifiedMatching DOID:2977 primary hyperoxaluria oboInOwl:hasDbXref ORDO:416 semapv:UnspecifiedMatching DOID:2977 primary hyperoxaluria oboInOwl:hasDbXref UMLS:C0020500 semapv:UnspecifiedMatching DOID:2977 primary hyperoxaluria oboInOwl:hasDbXref UMLS:C0020501 semapv:UnspecifiedMatching -DOID:2977 primary hyperoxaluria skos:exactMatch OMIMPS:259900 semapv:UnspecifiedMatching DOID:2978 carbohydrate metabolic disorder oboInOwl:hasDbXref MESH:D002239 semapv:UnspecifiedMatching DOID:2978 carbohydrate metabolic disorder oboInOwl:hasDbXref UMLS:C0007001 semapv:UnspecifiedMatching DOID:298 lacrimal gland adenocarcinoma oboInOwl:hasDbXref NCI:C4541 semapv:UnspecifiedMatching @@ -27789,26 +17121,20 @@ DOID:2986 IgA glomerulonephritis oboInOwl:hasDbXref EFO:0004194 semapv:Unspecifi DOID:2986 IgA glomerulonephritis oboInOwl:hasDbXref GARD:863 semapv:UnspecifiedMatching DOID:2986 IgA glomerulonephritis oboInOwl:hasDbXref MESH:D005922 semapv:UnspecifiedMatching DOID:2986 IgA glomerulonephritis oboInOwl:hasDbXref NCI:C34643 semapv:UnspecifiedMatching -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: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 DOID:2988 antiphospholipid syndrome oboInOwl:hasDbXref NCI:C61283 semapv:UnspecifiedMatching -DOID:2988 antiphospholipid syndrome oboInOwl:hasDbXref OMIM:107320 semapv:UnspecifiedMatching DOID:2988 antiphospholipid syndrome oboInOwl:hasDbXref UMLS:C0085278 semapv:UnspecifiedMatching DOID:2988 antiphospholipid syndrome skos:exactMatch MESH:D016736 semapv:UnspecifiedMatching -DOID:2988 antiphospholipid syndrome skos:exactMatch OMIM:107320 semapv:UnspecifiedMatching DOID:299 adenocarcinoma oboInOwl:hasDbXref ICDO:8140/3 semapv:UnspecifiedMatching DOID:299 adenocarcinoma oboInOwl:hasDbXref MESH:D000230 semapv:UnspecifiedMatching DOID:299 adenocarcinoma oboInOwl:hasDbXref NCI:C2852 semapv:UnspecifiedMatching @@ -27863,10 +17189,8 @@ DOID:3011 breast granular cell tumor oboInOwl:hasDbXref UMLS:C1511312 semapv:Uns DOID:3012 Li-Fraumeni syndrome oboInOwl:hasDbXref GARD:6902 semapv:UnspecifiedMatching DOID:3012 Li-Fraumeni syndrome oboInOwl:hasDbXref MESH:D016864 semapv:UnspecifiedMatching DOID:3012 Li-Fraumeni syndrome oboInOwl:hasDbXref NCI:C3476 semapv:UnspecifiedMatching -DOID:3012 Li-Fraumeni syndrome oboInOwl:hasDbXref OMIMPS:151623 semapv:UnspecifiedMatching DOID:3012 Li-Fraumeni syndrome oboInOwl:hasDbXref ORDO:524 semapv:UnspecifiedMatching DOID:3012 Li-Fraumeni syndrome oboInOwl:hasDbXref UMLS:C0085390 semapv:UnspecifiedMatching -DOID:3012 Li-Fraumeni syndrome skos:exactMatch OMIMPS:151623 semapv:UnspecifiedMatching DOID:3013 intraductal breast benign neoplasm oboInOwl:hasDbXref NCI:C36083 semapv:UnspecifiedMatching DOID:3013 intraductal breast benign neoplasm oboInOwl:hasDbXref UMLS:C0948967 semapv:UnspecifiedMatching DOID:3016 breast malignant phyllodes tumor oboInOwl:hasDbXref MESH:D003557 semapv:UnspecifiedMatching @@ -27927,9 +17251,7 @@ DOID:305 carcinoma oboInOwl:hasDbXref UMLS:C0553707 semapv:UnspecifiedMatching DOID:305 carcinoma oboInOwl:hasDbXref UMLS:C1368683 semapv:UnspecifiedMatching DOID:3052 Balkan nephropathy oboInOwl:hasDbXref ICD10CM:N15.0 semapv:UnspecifiedMatching DOID:3052 Balkan nephropathy oboInOwl:hasDbXref MESH:D001449 semapv:UnspecifiedMatching -DOID:3052 Balkan nephropathy oboInOwl:hasDbXref OMIM:124100 semapv:UnspecifiedMatching DOID:3052 Balkan nephropathy oboInOwl:hasDbXref UMLS:C0004698 semapv:UnspecifiedMatching -DOID:3052 Balkan nephropathy skos:exactMatch OMIM:124100 semapv:UnspecifiedMatching DOID:3055 paratyphoid fever oboInOwl:hasDbXref ICD10CM:A01.1 semapv:UnspecifiedMatching DOID:3055 paratyphoid fever oboInOwl:hasDbXref ICD10CM:A01.2 semapv:UnspecifiedMatching DOID:3055 paratyphoid fever oboInOwl:hasDbXref ICD10CM:A01.3 semapv:UnspecifiedMatching @@ -27968,11 +17290,9 @@ DOID:3070 high grade glioma oboInOwl:hasDbXref KEGG:05214 semapv:UnspecifiedMatc DOID:3070 high grade glioma oboInOwl:hasDbXref MESH:D005910 semapv:UnspecifiedMatching DOID:3070 high grade glioma oboInOwl:hasDbXref NCI:C3059 semapv:UnspecifiedMatching DOID:3070 high grade glioma oboInOwl:hasDbXref NCI:C4822 semapv:UnspecifiedMatching -DOID:3070 high grade glioma oboInOwl:hasDbXref OMIMPS:137800 semapv:UnspecifiedMatching DOID:3070 high grade glioma oboInOwl:hasDbXref ORDO:182067 semapv:UnspecifiedMatching DOID:3070 high grade glioma oboInOwl:hasDbXref UMLS:C0017638 semapv:UnspecifiedMatching DOID:3070 high grade glioma oboInOwl:hasDbXref UMLS:C0555198 semapv:UnspecifiedMatching -DOID:3070 high grade glioma skos:exactMatch OMIMPS:137800 semapv:UnspecifiedMatching DOID:3071 gliosarcoma oboInOwl:hasDbXref GARD:5653 semapv:UnspecifiedMatching DOID:3071 gliosarcoma oboInOwl:hasDbXref ICDO:9442/3 semapv:UnspecifiedMatching DOID:3071 gliosarcoma oboInOwl:hasDbXref MESH:D018316 semapv:UnspecifiedMatching @@ -27998,23 +17318,17 @@ DOID:3081 cystic lymphangioma oboInOwl:hasDbXref GARD:6234 semapv:UnspecifiedMat DOID:3081 cystic lymphangioma oboInOwl:hasDbXref ICDO:9173/0 semapv:UnspecifiedMatching DOID:3081 cystic lymphangioma oboInOwl:hasDbXref MESH:D018191 semapv:UnspecifiedMatching DOID:3081 cystic lymphangioma oboInOwl:hasDbXref NCI:C3724 semapv:UnspecifiedMatching -DOID:3081 cystic lymphangioma oboInOwl:hasDbXref OMIM:257350 semapv:UnspecifiedMatching DOID:3081 cystic lymphangioma oboInOwl:hasDbXref UMLS:C0206620 semapv:UnspecifiedMatching -DOID:3081 cystic lymphangioma skos:exactMatch OMIM:257350 semapv:UnspecifiedMatching DOID:3082 interstitial lung disease oboInOwl:hasDbXref GARD:13336 semapv:UnspecifiedMatching 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 DOID:3083 chronic obstructive pulmonary disease oboInOwl:hasDbXref NCI:C3199 semapv:UnspecifiedMatching -DOID:3083 chronic obstructive pulmonary disease oboInOwl:hasDbXref OMIM:606963 semapv:UnspecifiedMatching DOID:3083 chronic obstructive pulmonary disease oboInOwl:hasDbXref UMLS:C0024117 semapv:UnspecifiedMatching -DOID:3083 chronic obstructive pulmonary disease skos:exactMatch OMIM:606963 semapv:UnspecifiedMatching DOID:3086 gingival overgrowth oboInOwl:hasDbXref ICD10CM:K06.1 semapv:UnspecifiedMatching DOID:3086 gingival overgrowth oboInOwl:hasDbXref MESH:D019214 semapv:UnspecifiedMatching DOID:3086 gingival overgrowth oboInOwl:hasDbXref UMLS:C0376480 semapv:UnspecifiedMatching @@ -28049,9 +17363,7 @@ DOID:3098 small cell sarcoma oboInOwl:hasDbXref UMLS:C0206652 semapv:Unspecified DOID:310 MERRF syndrome oboInOwl:hasDbXref ICD10CM:E88.42 semapv:UnspecifiedMatching DOID:310 MERRF syndrome oboInOwl:hasDbXref MESH:D017243 semapv:UnspecifiedMatching DOID:310 MERRF syndrome oboInOwl:hasDbXref NCI:C84889 semapv:UnspecifiedMatching -DOID:310 MERRF syndrome oboInOwl:hasDbXref OMIM:545000 semapv:UnspecifiedMatching DOID:310 MERRF syndrome oboInOwl:hasDbXref UMLS:C0162672 semapv:UnspecifiedMatching -DOID:310 MERRF syndrome skos:exactMatch OMIM:545000 semapv:UnspecifiedMatching DOID:3103 thoracic outlet syndrome oboInOwl:hasDbXref GARD:7759 semapv:UnspecifiedMatching DOID:3103 thoracic outlet syndrome oboInOwl:hasDbXref ICD10CM:G54.0 semapv:UnspecifiedMatching DOID:3103 thoracic outlet syndrome oboInOwl:hasDbXref MESH:D013901 semapv:UnspecifiedMatching @@ -28128,15 +17440,11 @@ DOID:3132 porphyria cutanea tarda oboInOwl:hasDbXref GARD:7433 semapv:Unspecifie DOID:3132 porphyria cutanea tarda oboInOwl:hasDbXref ICD10CM:E80.1 semapv:UnspecifiedMatching DOID:3132 porphyria cutanea tarda oboInOwl:hasDbXref MESH:D017119 semapv:UnspecifiedMatching DOID:3132 porphyria cutanea tarda oboInOwl:hasDbXref NCI:C27725 semapv:UnspecifiedMatching -DOID:3132 porphyria cutanea tarda oboInOwl:hasDbXref OMIM:176090 semapv:UnspecifiedMatching -DOID:3132 porphyria cutanea tarda oboInOwl:hasDbXref OMIM:176100 semapv:UnspecifiedMatching DOID:3132 porphyria cutanea tarda oboInOwl:hasDbXref ORDO:101330 semapv:UnspecifiedMatching DOID:3132 porphyria cutanea tarda oboInOwl:hasDbXref UMLS:C0162566 semapv:UnspecifiedMatching DOID:3133 acute porphyria oboInOwl:hasDbXref MESH:D017094 semapv:UnspecifiedMatching -DOID:3133 acute porphyria oboInOwl:hasDbXref OMIM:612740 semapv:UnspecifiedMatching DOID:3133 acute porphyria oboInOwl:hasDbXref ORDO:100924 semapv:UnspecifiedMatching DOID:3133 acute porphyria oboInOwl:hasDbXref UMLS:C0162533 semapv:UnspecifiedMatching -DOID:3133 acute porphyria skos:exactMatch OMIM:612740 semapv:UnspecifiedMatching DOID:3134 facial dermatosis oboInOwl:hasDbXref MESH:D005148 semapv:UnspecifiedMatching DOID:3134 facial dermatosis oboInOwl:hasDbXref UMLS:C0015456 semapv:UnspecifiedMatching DOID:3136 scalp dermatosis oboInOwl:hasDbXref MESH:D012536 semapv:UnspecifiedMatching @@ -28145,8 +17453,6 @@ DOID:3138 acanthosis nigricans oboInOwl:hasDbXref GARD:8603 semapv:UnspecifiedMa DOID:3138 acanthosis nigricans oboInOwl:hasDbXref ICD10CM:L83 semapv:UnspecifiedMatching DOID:3138 acanthosis nigricans oboInOwl:hasDbXref MESH:D000052 semapv:UnspecifiedMatching DOID:3138 acanthosis nigricans oboInOwl:hasDbXref NCI:C26687 semapv:UnspecifiedMatching -DOID:3138 acanthosis nigricans oboInOwl:hasDbXref OMIM:100600 semapv:UnspecifiedMatching -DOID:3138 acanthosis nigricans oboInOwl:hasDbXref OMIM:200170 semapv:UnspecifiedMatching DOID:3138 acanthosis nigricans oboInOwl:hasDbXref UMLS:C0000889 semapv:UnspecifiedMatching DOID:3138 acanthosis nigricans skos:exactMatch MESH:D000052 semapv:UnspecifiedMatching DOID:314 tenosynovial giant cell tumor oboInOwl:hasDbXref ICD9CM:727.02 semapv:UnspecifiedMatching @@ -28166,15 +17472,11 @@ DOID:3144 cutis laxa oboInOwl:hasDbXref GARD:6227 semapv:UnspecifiedMatching DOID:3144 cutis laxa oboInOwl:hasDbXref ICD10CM:Q82.8 semapv:UnspecifiedMatching DOID:3144 cutis laxa oboInOwl:hasDbXref MESH:D003483 semapv:UnspecifiedMatching DOID:3144 cutis laxa oboInOwl:hasDbXref NCI:C84663 semapv:UnspecifiedMatching -DOID:3144 cutis laxa oboInOwl:hasDbXref OMIMPS:123700 semapv:UnspecifiedMatching DOID:3144 cutis laxa oboInOwl:hasDbXref ORDO:209 semapv:UnspecifiedMatching DOID:3144 cutis laxa oboInOwl:hasDbXref UMLS:C0010495 semapv:UnspecifiedMatching -DOID:3144 cutis laxa skos:exactMatch OMIMPS:123700 semapv:UnspecifiedMatching DOID:3145 hyperlipoproteinemia type III oboInOwl:hasDbXref MESH:D006952 semapv:UnspecifiedMatching DOID:3145 hyperlipoproteinemia type III oboInOwl:hasDbXref NCI:C34710 semapv:UnspecifiedMatching -DOID:3145 hyperlipoproteinemia type III oboInOwl:hasDbXref OMIM:617347 semapv:UnspecifiedMatching DOID:3145 hyperlipoproteinemia type III oboInOwl:hasDbXref UMLS:C0020479 semapv:UnspecifiedMatching -DOID:3145 hyperlipoproteinemia type III skos:exactMatch OMIM:617347 semapv:UnspecifiedMatching DOID:3146 lipid metabolism disorder oboInOwl:hasDbXref MESH:D008052 semapv:UnspecifiedMatching DOID:3146 lipid metabolism disorder oboInOwl:hasDbXref UMLS:C0023772 semapv:UnspecifiedMatching DOID:3148 dermal unilateral segmental cavernous angioma oboInOwl:hasDbXref UMLS:C0474966 semapv:UnspecifiedMatching @@ -28190,9 +17492,7 @@ DOID:3153 lipomatosis oboInOwl:hasDbXref MESH:D008068 semapv:UnspecifiedMatching DOID:3153 lipomatosis oboInOwl:hasDbXref UMLS:C0023801 semapv:UnspecifiedMatching DOID:3156 hypomelanosis of Ito oboInOwl:hasDbXref MESH:D010859 semapv:UnspecifiedMatching DOID:3156 hypomelanosis of Ito oboInOwl:hasDbXref NCI:C7582 semapv:UnspecifiedMatching -DOID:3156 hypomelanosis of Ito oboInOwl:hasDbXref OMIM:300337 semapv:UnspecifiedMatching DOID:3156 hypomelanosis of Ito oboInOwl:hasDbXref UMLS:C0022283 semapv:UnspecifiedMatching -DOID:3156 hypomelanosis of Ito skos:exactMatch OMIM:300337 semapv:UnspecifiedMatching DOID:3158 hand dermatosis oboInOwl:hasDbXref MESH:D006229 semapv:UnspecifiedMatching DOID:3158 hand dermatosis oboInOwl:hasDbXref UMLS:C0018567 semapv:UnspecifiedMatching DOID:3159 photosensitivity disease oboInOwl:hasDbXref MESH:D010787 semapv:UnspecifiedMatching @@ -28256,10 +17556,8 @@ DOID:319 spinal cord disease oboInOwl:hasDbXref UMLS:C0037928 semapv:Unspecified DOID:3191 nemaline myopathy oboInOwl:hasDbXref GARD:12033 semapv:UnspecifiedMatching DOID:3191 nemaline myopathy oboInOwl:hasDbXref ICD10CM:G71.21 semapv:UnspecifiedMatching DOID:3191 nemaline myopathy oboInOwl:hasDbXref MESH:D017696 semapv:UnspecifiedMatching -DOID:3191 nemaline myopathy oboInOwl:hasDbXref OMIMPS:161800 semapv:UnspecifiedMatching DOID:3191 nemaline myopathy oboInOwl:hasDbXref ORDO:607 semapv:UnspecifiedMatching DOID:3191 nemaline myopathy oboInOwl:hasDbXref UMLS:C0206157 semapv:UnspecifiedMatching -DOID:3191 nemaline myopathy skos:exactMatch OMIMPS:161800 semapv:UnspecifiedMatching DOID:3192 neurilemmoma oboInOwl:hasDbXref ICDO:9560/3 semapv:UnspecifiedMatching DOID:3192 neurilemmoma oboInOwl:hasDbXref MESH:D009442 semapv:UnspecifiedMatching DOID:3192 neurilemmoma oboInOwl:hasDbXref NCI:C3269 semapv:UnspecifiedMatching @@ -28289,7 +17587,6 @@ DOID:3204 schwannomatosis oboInOwl:hasDbXref ICD9CM:237.73 semapv:UnspecifiedMat DOID:3204 schwannomatosis oboInOwl:hasDbXref ICDO:9560/1 semapv:UnspecifiedMatching DOID:3204 schwannomatosis oboInOwl:hasDbXref MESH:C536641 semapv:UnspecifiedMatching DOID:3204 schwannomatosis oboInOwl:hasDbXref NCI:C6557 semapv:UnspecifiedMatching -DOID:3204 schwannomatosis oboInOwl:hasDbXref OMIMPS:162091 semapv:UnspecifiedMatching DOID:3204 schwannomatosis oboInOwl:hasDbXref ORDO:93921 semapv:UnspecifiedMatching DOID:3204 schwannomatosis oboInOwl:hasDbXref UMLS:C1335929 semapv:UnspecifiedMatching DOID:3204 schwannomatosis skos:broadMatch ORDO:634518 semapv:UnspecifiedMatching @@ -28298,8 +17595,6 @@ DOID:3204 schwannomatosis skos:exactMatch ICD9CM:237.73 semapv:UnspecifiedMatchi DOID:3204 schwannomatosis skos:exactMatch ICDO:9560/1 semapv:UnspecifiedMatching DOID:3204 schwannomatosis skos:exactMatch MESH:C536641 semapv:UnspecifiedMatching DOID:3204 schwannomatosis skos:exactMatch NCI:C6557 semapv:UnspecifiedMatching -DOID:3204 schwannomatosis skos:exactMatch OMIM:PS162091 semapv:UnspecifiedMatching -DOID:3204 schwannomatosis skos:exactMatch OMIMPS:162091 semapv:UnspecifiedMatching DOID:3204 schwannomatosis skos:exactMatch ORDO:93921 semapv:UnspecifiedMatching DOID:3204 schwannomatosis skos:exactMatch SNOMEDCT_US_2020_03_01:781641005 semapv:UnspecifiedMatching DOID:3204 schwannomatosis skos:exactMatch UMLS:C1335929 semapv:UnspecifiedMatching @@ -28315,16 +17610,12 @@ DOID:3209 junctional epidermolysis bullosa oboInOwl:hasDbXref UMLS:C0079301 sema DOID:321 tropical spastic paraparesis oboInOwl:hasDbXref ICD10CM:G04.1 semapv:UnspecifiedMatching DOID:321 tropical spastic paraparesis oboInOwl:hasDbXref MESH:D015493 semapv:UnspecifiedMatching DOID:321 tropical spastic paraparesis oboInOwl:hasDbXref NCI:C179058 semapv:UnspecifiedMatching -DOID:321 tropical spastic paraparesis oboInOwl:hasDbXref OMIM:159580 semapv:UnspecifiedMatching DOID:321 tropical spastic paraparesis oboInOwl:hasDbXref UMLS:C0030481 semapv:UnspecifiedMatching -DOID:321 tropical spastic paraparesis skos:exactMatch OMIM:159580 semapv:UnspecifiedMatching DOID:3210 Pelizaeus-Merzbacher disease oboInOwl:hasDbXref GARD:4265 semapv:UnspecifiedMatching DOID:3210 Pelizaeus-Merzbacher disease oboInOwl:hasDbXref MESH:D020371 semapv:UnspecifiedMatching DOID:3210 Pelizaeus-Merzbacher disease oboInOwl:hasDbXref NCI:C75487 semapv:UnspecifiedMatching -DOID:3210 Pelizaeus-Merzbacher disease oboInOwl:hasDbXref OMIM:312080 semapv:UnspecifiedMatching DOID:3210 Pelizaeus-Merzbacher disease oboInOwl:hasDbXref ORDO:702 semapv:UnspecifiedMatching DOID:3210 Pelizaeus-Merzbacher disease oboInOwl:hasDbXref UMLS:C0205711 semapv:UnspecifiedMatching -DOID:3210 Pelizaeus-Merzbacher disease skos:exactMatch OMIM:312080 semapv:UnspecifiedMatching DOID:3211 lysosomal storage disease oboInOwl:hasDbXref MESH:D016464 semapv:UnspecifiedMatching DOID:3211 lysosomal storage disease oboInOwl:hasDbXref NCI:C61250 semapv:UnspecifiedMatching DOID:3211 lysosomal storage disease oboInOwl:hasDbXref UMLS:C0085078 semapv:UnspecifiedMatching @@ -28371,10 +17662,8 @@ DOID:3246 embryonal rhabdomyosarcoma oboInOwl:hasDbXref GARD:4702 semapv:Unspeci DOID:3246 embryonal rhabdomyosarcoma oboInOwl:hasDbXref ICDO:8910/3 semapv:UnspecifiedMatching DOID:3246 embryonal rhabdomyosarcoma oboInOwl:hasDbXref MESH:D018233 semapv:UnspecifiedMatching DOID:3246 embryonal rhabdomyosarcoma oboInOwl:hasDbXref NCI:C8971 semapv:UnspecifiedMatching -DOID:3246 embryonal rhabdomyosarcoma oboInOwl:hasDbXref OMIM:268210 semapv:UnspecifiedMatching DOID:3246 embryonal rhabdomyosarcoma oboInOwl:hasDbXref ORDO:99757 semapv:UnspecifiedMatching DOID:3246 embryonal rhabdomyosarcoma oboInOwl:hasDbXref UMLS:C0206656 semapv:UnspecifiedMatching -DOID:3246 embryonal rhabdomyosarcoma skos:exactMatch OMIM:268210 semapv:UnspecifiedMatching DOID:3247 rhabdomyosarcoma oboInOwl:hasDbXref ICDO:8900/3 semapv:UnspecifiedMatching DOID:3247 rhabdomyosarcoma oboInOwl:hasDbXref MESH:D012208 semapv:UnspecifiedMatching DOID:3247 rhabdomyosarcoma oboInOwl:hasDbXref NCI:C3359 semapv:UnspecifiedMatching @@ -28407,11 +17696,9 @@ DOID:3261 hyper IgE recurrent infection syndrome 1 oboInOwl:hasDbXref GARD:6800 DOID:3261 hyper IgE recurrent infection syndrome 1 oboInOwl:hasDbXref MESH:D007589 semapv:UnspecifiedMatching DOID:3261 hyper IgE recurrent infection syndrome 1 oboInOwl:hasDbXref NCI:C126342 semapv:UnspecifiedMatching DOID:3261 hyper IgE recurrent infection syndrome 1 oboInOwl:hasDbXref NCI:C126343 semapv:UnspecifiedMatching -DOID:3261 hyper IgE recurrent infection syndrome 1 oboInOwl:hasDbXref OMIM:147060 semapv:UnspecifiedMatching DOID:3261 hyper IgE recurrent infection syndrome 1 oboInOwl:hasDbXref ORDO:2314 semapv:UnspecifiedMatching DOID:3261 hyper IgE recurrent infection syndrome 1 oboInOwl:hasDbXref UMLS:C1968689 semapv:UnspecifiedMatching DOID:3261 hyper IgE recurrent infection syndrome 1 oboInOwl:hasDbXref UMLS:C2936739 semapv:UnspecifiedMatching -DOID:3261 hyper IgE recurrent infection syndrome 1 skos:exactMatch OMIM:147060 semapv:UnspecifiedMatching DOID:3262 phagocyte bactericidal dysfunction oboInOwl:hasDbXref MESH:D010585 semapv:UnspecifiedMatching DOID:3262 phagocyte bactericidal dysfunction oboInOwl:hasDbXref UMLS:C0031306 semapv:UnspecifiedMatching DOID:3262 phagocyte bactericidal dysfunction skos:exactMatch MESH:D010585 semapv:UnspecifiedMatching @@ -28419,20 +17706,16 @@ DOID:3263 piebaldism oboInOwl:hasDbXref GARD:4344 semapv:UnspecifiedMatching DOID:3263 piebaldism oboInOwl:hasDbXref ICD10CM:E70.39 semapv:UnspecifiedMatching DOID:3263 piebaldism oboInOwl:hasDbXref MESH:D016116 semapv:UnspecifiedMatching DOID:3263 piebaldism oboInOwl:hasDbXref NCI:C85009 semapv:UnspecifiedMatching -DOID:3263 piebaldism oboInOwl:hasDbXref OMIM:172800 semapv:UnspecifiedMatching DOID:3263 piebaldism oboInOwl:hasDbXref ORDO:2884 semapv:UnspecifiedMatching DOID:3263 piebaldism oboInOwl:hasDbXref UMLS:C0080024 semapv:UnspecifiedMatching -DOID:3263 piebaldism skos:exactMatch OMIM:172800 semapv:UnspecifiedMatching DOID:3264 subacute leukemia oboInOwl:hasDbXref ICD9CM:208.2 semapv:UnspecifiedMatching DOID:3264 subacute leukemia oboInOwl:hasDbXref UMLS:C0153924 semapv:UnspecifiedMatching DOID:3265 chronic granulomatous disease oboInOwl:hasDbXref GARD:6100 semapv:UnspecifiedMatching DOID:3265 chronic granulomatous disease oboInOwl:hasDbXref ICD10CM:D71 semapv:UnspecifiedMatching DOID:3265 chronic granulomatous disease oboInOwl:hasDbXref MESH:D006105 semapv:UnspecifiedMatching DOID:3265 chronic granulomatous disease oboInOwl:hasDbXref NCI:C26788 semapv:UnspecifiedMatching -DOID:3265 chronic granulomatous disease oboInOwl:hasDbXref OMIMPS:306400 semapv:UnspecifiedMatching DOID:3265 chronic granulomatous disease oboInOwl:hasDbXref ORDO:379 semapv:UnspecifiedMatching DOID:3265 chronic granulomatous disease oboInOwl:hasDbXref UMLS:C0018203 semapv:UnspecifiedMatching -DOID:3265 chronic granulomatous disease skos:exactMatch OMIMPS:306400 semapv:UnspecifiedMatching DOID:3267 mucinous ovarian cystadenoma oboInOwl:hasDbXref NCI:C4512 semapv:UnspecifiedMatching DOID:3267 mucinous ovarian cystadenoma oboInOwl:hasDbXref UMLS:C0346172 semapv:UnspecifiedMatching DOID:3269 ovarian cystadenoma oboInOwl:hasDbXref NCI:C4060 semapv:UnspecifiedMatching @@ -28440,10 +17723,8 @@ DOID:3269 ovarian cystadenoma oboInOwl:hasDbXref UMLS:C0346169 semapv:Unspecifie DOID:327 syringomyelia oboInOwl:hasDbXref GARD:7725 semapv:UnspecifiedMatching DOID:327 syringomyelia oboInOwl:hasDbXref MESH:D013595 semapv:UnspecifiedMatching DOID:327 syringomyelia oboInOwl:hasDbXref NCI:C85179 semapv:UnspecifiedMatching -DOID:327 syringomyelia oboInOwl:hasDbXref OMIM:186700 semapv:UnspecifiedMatching DOID:327 syringomyelia oboInOwl:hasDbXref ORDO:3280 semapv:UnspecifiedMatching DOID:327 syringomyelia oboInOwl:hasDbXref UMLS:C0039144 semapv:UnspecifiedMatching -DOID:327 syringomyelia skos:exactMatch OMIM:186700 semapv:UnspecifiedMatching DOID:3274 proliferative type fibrocystic change of breast oboInOwl:hasDbXref NCI:C8365 semapv:UnspecifiedMatching DOID:3274 proliferative type fibrocystic change of breast oboInOwl:hasDbXref UMLS:C0334056 semapv:UnspecifiedMatching DOID:3275 thymoma oboInOwl:hasDbXref ICDO:8580/3 semapv:UnspecifiedMatching @@ -28481,9 +17762,7 @@ DOID:3298 vaccinia oboInOwl:hasDbXref UMLS:C0042214 semapv:UnspecifiedMatching DOID:3301 gonadoblastoma oboInOwl:hasDbXref ICDO:9073/1 semapv:UnspecifiedMatching DOID:3301 gonadoblastoma oboInOwl:hasDbXref MESH:D018238 semapv:UnspecifiedMatching DOID:3301 gonadoblastoma oboInOwl:hasDbXref NCI:C3754 semapv:UnspecifiedMatching -DOID:3301 gonadoblastoma oboInOwl:hasDbXref OMIM:424500 semapv:UnspecifiedMatching DOID:3301 gonadoblastoma oboInOwl:hasDbXref UMLS:C0206661 semapv:UnspecifiedMatching -DOID:3301 gonadoblastoma skos:exactMatch OMIM:424500 semapv:UnspecifiedMatching DOID:3302 chordoma oboInOwl:hasDbXref GARD:1303 semapv:UnspecifiedMatching DOID:3302 chordoma oboInOwl:hasDbXref ICDO:9370/3 semapv:UnspecifiedMatching DOID:3302 chordoma oboInOwl:hasDbXref MESH:D002817 semapv:UnspecifiedMatching @@ -28522,8 +17801,6 @@ DOID:331 central nervous system disease oboInOwl:hasDbXref UMLS:C0007682 semapv: DOID:3310 atopic dermatitis oboInOwl:hasDbXref EFO:0000274 semapv:UnspecifiedMatching DOID:3310 atopic dermatitis oboInOwl:hasDbXref ICD10CM:L20 semapv:UnspecifiedMatching DOID:3310 atopic dermatitis oboInOwl:hasDbXref MESH:D003876 semapv:UnspecifiedMatching -DOID:3310 atopic dermatitis oboInOwl:hasDbXref OMIM:603165 semapv:UnspecifiedMatching -DOID:3310 atopic dermatitis oboInOwl:hasDbXref OMIMPS:603165 semapv:UnspecifiedMatching DOID:3310 atopic dermatitis oboInOwl:hasDbXref UMLS:C0011615 semapv:UnspecifiedMatching DOID:3312 bipolar disorder oboInOwl:hasDbXref GARD:10249 semapv:UnspecifiedMatching DOID:3312 bipolar disorder oboInOwl:hasDbXref ICD10CM:F31 semapv:UnspecifiedMatching @@ -28565,29 +17842,23 @@ DOID:3318 epithelioid type angiomyolipoma oboInOwl:hasDbXref NCI:C38151 semapv:U DOID:3319 lymphangioleiomyomatosis oboInOwl:hasDbXref GARD:3319 semapv:UnspecifiedMatching DOID:3319 lymphangioleiomyomatosis oboInOwl:hasDbXref ICDO:9174/1 semapv:UnspecifiedMatching DOID:3319 lymphangioleiomyomatosis oboInOwl:hasDbXref NCI:C38153 semapv:UnspecifiedMatching -DOID:3319 lymphangioleiomyomatosis oboInOwl:hasDbXref OMIM:606690 semapv:UnspecifiedMatching DOID:3319 lymphangioleiomyomatosis oboInOwl:hasDbXref ORDO:538 semapv:UnspecifiedMatching DOID:3319 lymphangioleiomyomatosis oboInOwl:hasDbXref UMLS:C0349649 semapv:UnspecifiedMatching DOID:3319 lymphangioleiomyomatosis skos:exactMatch MESH:D018192 semapv:UnspecifiedMatching -DOID:3319 lymphangioleiomyomatosis skos:exactMatch OMIM:606690 semapv:UnspecifiedMatching DOID:332 amyotrophic lateral sclerosis oboInOwl:hasDbXref GARD:5786 semapv:UnspecifiedMatching DOID:332 amyotrophic lateral sclerosis oboInOwl:hasDbXref ICD10CM:G12.21 semapv:UnspecifiedMatching DOID:332 amyotrophic lateral sclerosis oboInOwl:hasDbXref ICD9CM:335.20 semapv:UnspecifiedMatching DOID:332 amyotrophic lateral sclerosis oboInOwl:hasDbXref KEGG:05014 semapv:UnspecifiedMatching DOID:332 amyotrophic lateral sclerosis oboInOwl:hasDbXref MESH:D000690 semapv:UnspecifiedMatching DOID:332 amyotrophic lateral sclerosis oboInOwl:hasDbXref NCI:C34373 semapv:UnspecifiedMatching -DOID:332 amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIMPS:105400 semapv:UnspecifiedMatching DOID:332 amyotrophic lateral sclerosis oboInOwl:hasDbXref ORDO:803 semapv:UnspecifiedMatching DOID:332 amyotrophic lateral sclerosis oboInOwl:hasDbXref UMLS:C0002736 semapv:UnspecifiedMatching DOID:332 amyotrophic lateral sclerosis skos:exactMatch MESH:D000690 semapv:UnspecifiedMatching -DOID:332 amyotrophic lateral sclerosis skos:exactMatch OMIMPS:105400 semapv:UnspecifiedMatching DOID:3320 Tay-Sachs disease oboInOwl:hasDbXref GARD:7737 semapv:UnspecifiedMatching DOID:3320 Tay-Sachs disease oboInOwl:hasDbXref ICD10CM:E75.02 semapv:UnspecifiedMatching DOID:3320 Tay-Sachs disease oboInOwl:hasDbXref MESH:D013661 semapv:UnspecifiedMatching DOID:3320 Tay-Sachs disease oboInOwl:hasDbXref NCI:C85184 semapv:UnspecifiedMatching -DOID:3320 Tay-Sachs disease oboInOwl:hasDbXref OMIM:272800 semapv:UnspecifiedMatching DOID:3320 Tay-Sachs disease oboInOwl:hasDbXref UMLS:C0039373 semapv:UnspecifiedMatching -DOID:3320 Tay-Sachs disease skos:exactMatch OMIM:272800 semapv:UnspecifiedMatching DOID:3321 GM2 gangliosidosis oboInOwl:hasDbXref ICD10CM:E75.0 semapv:UnspecifiedMatching DOID:3321 GM2 gangliosidosis oboInOwl:hasDbXref MESH:D020143 semapv:UnspecifiedMatching DOID:3321 GM2 gangliosidosis oboInOwl:hasDbXref UMLS:C0268274 semapv:UnspecifiedMatching @@ -28600,10 +17871,8 @@ DOID:3323 Sandhoff disease oboInOwl:hasDbXref GARD:7604 semapv:UnspecifiedMatchi DOID:3323 Sandhoff disease oboInOwl:hasDbXref ICD10CM:E75.01 semapv:UnspecifiedMatching DOID:3323 Sandhoff disease oboInOwl:hasDbXref MESH:D012497 semapv:UnspecifiedMatching DOID:3323 Sandhoff disease oboInOwl:hasDbXref NCI:C85052 semapv:UnspecifiedMatching -DOID:3323 Sandhoff disease oboInOwl:hasDbXref OMIM:268800 semapv:UnspecifiedMatching DOID:3323 Sandhoff disease oboInOwl:hasDbXref UMLS:C0036161 semapv:UnspecifiedMatching DOID:3323 Sandhoff disease skos:exactMatch MESH:D012497 semapv:UnspecifiedMatching -DOID:3323 Sandhoff disease skos:exactMatch OMIM:268800 semapv:UnspecifiedMatching DOID:3324 mood disorder oboInOwl:hasDbXref EFO:0004247 semapv:UnspecifiedMatching DOID:3324 mood disorder oboInOwl:hasDbXref ICD10CM:F39 semapv:UnspecifiedMatching DOID:3324 mood disorder oboInOwl:hasDbXref MESH:D019964 semapv:UnspecifiedMatching @@ -28621,15 +17890,11 @@ DOID:3327 partial motor epilepsy oboInOwl:hasDbXref NCI:C50847 semapv:Unspecifie DOID:3327 partial motor epilepsy oboInOwl:hasDbXref UMLS:C0016399 semapv:UnspecifiedMatching DOID:3328 temporal lobe epilepsy oboInOwl:hasDbXref MESH:D004833 semapv:UnspecifiedMatching DOID:3328 temporal lobe epilepsy oboInOwl:hasDbXref NCI:C177244 semapv:UnspecifiedMatching -DOID:3328 temporal lobe epilepsy oboInOwl:hasDbXref OMIMPS:600512 semapv:UnspecifiedMatching DOID:3328 temporal lobe epilepsy oboInOwl:hasDbXref UMLS:C0014556 semapv:UnspecifiedMatching -DOID:3328 temporal lobe epilepsy skos:exactMatch OMIMPS:600512 semapv:UnspecifiedMatching DOID:3329 benign epilepsy with centrotemporal spikes oboInOwl:hasDbXref GARD:10287 semapv:UnspecifiedMatching DOID:3329 benign epilepsy with centrotemporal spikes oboInOwl:hasDbXref MESH:D019305 semapv:UnspecifiedMatching -DOID:3329 benign epilepsy with centrotemporal spikes oboInOwl:hasDbXref OMIM:117100 semapv:UnspecifiedMatching DOID:3329 benign epilepsy with centrotemporal spikes oboInOwl:hasDbXref ORDO:1945 semapv:UnspecifiedMatching DOID:3329 benign epilepsy with centrotemporal spikes oboInOwl:hasDbXref UMLS:C0376532 semapv:UnspecifiedMatching -DOID:3329 benign epilepsy with centrotemporal spikes skos:exactMatch OMIM:117100 semapv:UnspecifiedMatching DOID:3330 partial sensory epilepsy oboInOwl:hasDbXref MESH:D020937 semapv:UnspecifiedMatching DOID:3330 partial sensory epilepsy oboInOwl:hasDbXref UMLS:C0752322 semapv:UnspecifiedMatching DOID:3331 frontal lobe epilepsy oboInOwl:hasDbXref MESH:D017034 semapv:UnspecifiedMatching @@ -28649,9 +17914,7 @@ DOID:3342 bone inflammation disease oboInOwl:hasDbXref UMLS:C0029400 semapv:Unsp DOID:3343 glycoproteinosis oboInOwl:hasDbXref GARD:10670 semapv:UnspecifiedMatching DOID:3343 glycoproteinosis oboInOwl:hasDbXref MESH:D009081 semapv:UnspecifiedMatching DOID:3343 glycoproteinosis oboInOwl:hasDbXref NCI:C61267 semapv:UnspecifiedMatching -DOID:3343 glycoproteinosis oboInOwl:hasDbXref OMIM:256550 semapv:UnspecifiedMatching DOID:3343 glycoproteinosis oboInOwl:hasDbXref UMLS:C0026697 semapv:UnspecifiedMatching -DOID:3343 glycoproteinosis skos:exactMatch OMIM:256550 semapv:UnspecifiedMatching DOID:3345 xanthomatosis oboInOwl:hasDbXref MESH:D014973 semapv:UnspecifiedMatching DOID:3345 xanthomatosis oboInOwl:hasDbXref UMLS:C0043325 semapv:UnspecifiedMatching DOID:3347 osteosarcoma oboInOwl:hasDbXref GARD:7284 semapv:UnspecifiedMatching @@ -28659,11 +17922,9 @@ DOID:3347 osteosarcoma oboInOwl:hasDbXref ICDO:9180/3 semapv:UnspecifiedMatching DOID:3347 osteosarcoma oboInOwl:hasDbXref MESH:D012516 semapv:UnspecifiedMatching DOID:3347 osteosarcoma oboInOwl:hasDbXref MESH:D018213 semapv:UnspecifiedMatching DOID:3347 osteosarcoma oboInOwl:hasDbXref NCI:C9145 semapv:UnspecifiedMatching -DOID:3347 osteosarcoma oboInOwl:hasDbXref OMIM:259500 semapv:UnspecifiedMatching DOID:3347 osteosarcoma oboInOwl:hasDbXref ORDO:668 semapv:UnspecifiedMatching DOID:3347 osteosarcoma oboInOwl:hasDbXref UMLS:C0029463 semapv:UnspecifiedMatching DOID:3347 osteosarcoma oboInOwl:hasDbXref UMLS:C0206639 semapv:UnspecifiedMatching -DOID:3347 osteosarcoma skos:exactMatch OMIM:259500 semapv:UnspecifiedMatching DOID:3350 mesenchymal cell neoplasm oboInOwl:hasDbXref NCI:C6587 semapv:UnspecifiedMatching DOID:3350 mesenchymal cell neoplasm oboInOwl:hasDbXref NCI:C7059 semapv:UnspecifiedMatching DOID:3350 mesenchymal cell neoplasm oboInOwl:hasDbXref UMLS:C1332517 semapv:UnspecifiedMatching @@ -28715,14 +17976,12 @@ DOID:3369 Ewing sarcoma oboInOwl:hasDbXref NCI:C4817 semapv:UnspecifiedMatching DOID:3369 Ewing sarcoma oboInOwl:hasDbXref NCI:C7542 semapv:UnspecifiedMatching DOID:3369 Ewing sarcoma oboInOwl:hasDbXref NCI:C7806 semapv:UnspecifiedMatching DOID:3369 Ewing sarcoma oboInOwl:hasDbXref NCI:C9341 semapv:UnspecifiedMatching -DOID:3369 Ewing sarcoma oboInOwl:hasDbXref OMIM:612219 semapv:UnspecifiedMatching DOID:3369 Ewing sarcoma oboInOwl:hasDbXref UMLS:C0553580 semapv:UnspecifiedMatching DOID:3369 Ewing sarcoma oboInOwl:hasDbXref UMLS:C0684337 semapv:UnspecifiedMatching DOID:3369 Ewing sarcoma oboInOwl:hasDbXref UMLS:C0796547 semapv:UnspecifiedMatching DOID:3369 Ewing sarcoma oboInOwl:hasDbXref UMLS:C0863029 semapv:UnspecifiedMatching DOID:3369 Ewing sarcoma oboInOwl:hasDbXref UMLS:C0877849 semapv:UnspecifiedMatching DOID:3369 Ewing sarcoma oboInOwl:hasDbXref UMLS:C1334408 semapv:UnspecifiedMatching -DOID:3369 Ewing sarcoma skos:exactMatch OMIM:612219 semapv:UnspecifiedMatching DOID:337 spinal accessory nerve neoplasm oboInOwl:hasDbXref NCI:C5829 semapv:UnspecifiedMatching DOID:337 spinal accessory nerve neoplasm oboInOwl:hasDbXref UMLS:C1263902 semapv:UnspecifiedMatching DOID:3371 chondrosarcoma oboInOwl:hasDbXref GARD:6004 semapv:UnspecifiedMatching @@ -28731,10 +17990,8 @@ DOID:3371 chondrosarcoma oboInOwl:hasDbXref ICDO:9220/3 semapv:UnspecifiedMatchi DOID:3371 chondrosarcoma oboInOwl:hasDbXref MESH:D002813 semapv:UnspecifiedMatching DOID:3371 chondrosarcoma oboInOwl:hasDbXref NCI:C2946 semapv:UnspecifiedMatching DOID:3371 chondrosarcoma oboInOwl:hasDbXref NCI:C7155 semapv:UnspecifiedMatching -DOID:3371 chondrosarcoma oboInOwl:hasDbXref OMIM:215300 semapv:UnspecifiedMatching DOID:3371 chondrosarcoma oboInOwl:hasDbXref UMLS:C0008479 semapv:UnspecifiedMatching DOID:3371 chondrosarcoma oboInOwl:hasDbXref UMLS:C1335473 semapv:UnspecifiedMatching -DOID:3371 chondrosarcoma skos:exactMatch OMIM:215300 semapv:UnspecifiedMatching DOID:3372 chondroblastic osteosarcoma oboInOwl:hasDbXref ICDO:9181/3 semapv:UnspecifiedMatching DOID:3372 chondroblastic osteosarcoma oboInOwl:hasDbXref NCI:C4021 semapv:UnspecifiedMatching DOID:3372 chondroblastic osteosarcoma oboInOwl:hasDbXref UMLS:C0279603 semapv:UnspecifiedMatching @@ -28767,10 +18024,8 @@ DOID:3388 periodontal disease oboInOwl:hasDbXref UMLS:C0031090 semapv:Unspecifie DOID:3389 Papillon-Lefevre disease oboInOwl:hasDbXref GARD:3100 semapv:UnspecifiedMatching DOID:3389 Papillon-Lefevre disease oboInOwl:hasDbXref MESH:D010214 semapv:UnspecifiedMatching DOID:3389 Papillon-Lefevre disease oboInOwl:hasDbXref NCI:C84992 semapv:UnspecifiedMatching -DOID:3389 Papillon-Lefevre disease oboInOwl:hasDbXref OMIM:245000 semapv:UnspecifiedMatching DOID:3389 Papillon-Lefevre disease oboInOwl:hasDbXref ORDO:678 semapv:UnspecifiedMatching DOID:3389 Papillon-Lefevre disease oboInOwl:hasDbXref UMLS:C0030360 semapv:UnspecifiedMatching -DOID:3389 Papillon-Lefevre disease skos:exactMatch OMIM:245000 semapv:UnspecifiedMatching DOID:339 accessory nerve disease oboInOwl:hasDbXref ICD9CM:352.4 semapv:UnspecifiedMatching DOID:339 accessory nerve disease oboInOwl:hasDbXref MESH:D020436 semapv:UnspecifiedMatching DOID:339 accessory nerve disease oboInOwl:hasDbXref NCI:C26953 semapv:UnspecifiedMatching @@ -28790,15 +18045,6 @@ DOID:3393 coronary artery disease oboInOwl:hasDbXref MESH:D003327 semapv:Unspeci DOID:3393 coronary artery disease oboInOwl:hasDbXref MESH:D017202 semapv:UnspecifiedMatching DOID:3393 coronary artery disease oboInOwl:hasDbXref NCI:C35505 semapv:UnspecifiedMatching DOID:3393 coronary artery disease oboInOwl:hasDbXref NCI:C50625 semapv:UnspecifiedMatching -DOID:3393 coronary artery disease oboInOwl:hasDbXref OMIM:300464 semapv:UnspecifiedMatching -DOID:3393 coronary artery disease oboInOwl:hasDbXref OMIM:607339 semapv:UnspecifiedMatching -DOID:3393 coronary artery disease oboInOwl:hasDbXref OMIM:608316 semapv:UnspecifiedMatching -DOID:3393 coronary artery disease oboInOwl:hasDbXref OMIM:608318 semapv:UnspecifiedMatching -DOID:3393 coronary artery disease oboInOwl:hasDbXref OMIM:608320 semapv:UnspecifiedMatching -DOID:3393 coronary artery disease oboInOwl:hasDbXref OMIM:610947 semapv:UnspecifiedMatching -DOID:3393 coronary artery disease oboInOwl:hasDbXref OMIM:611139 semapv:UnspecifiedMatching -DOID:3393 coronary artery disease oboInOwl:hasDbXref OMIM:612030 semapv:UnspecifiedMatching -DOID:3393 coronary artery disease oboInOwl:hasDbXref OMIM:614293 semapv:UnspecifiedMatching DOID:3393 coronary artery disease oboInOwl:hasDbXref UMLS:C0010054 semapv:UnspecifiedMatching DOID:3393 coronary artery disease oboInOwl:hasDbXref UMLS:C0010068 semapv:UnspecifiedMatching DOID:3393 coronary artery disease oboInOwl:hasDbXref UMLS:C0151744 semapv:UnspecifiedMatching @@ -28823,10 +18069,8 @@ DOID:3410 carotid artery thrombosis oboInOwl:hasDbXref UMLS:C0007274 semapv:Unsp DOID:3413 alpha-mannosidosis oboInOwl:hasDbXref GARD:6968 semapv:UnspecifiedMatching DOID:3413 alpha-mannosidosis oboInOwl:hasDbXref MESH:D008363 semapv:UnspecifiedMatching DOID:3413 alpha-mannosidosis oboInOwl:hasDbXref NCI:C84548 semapv:UnspecifiedMatching -DOID:3413 alpha-mannosidosis oboInOwl:hasDbXref OMIM:248500 semapv:UnspecifiedMatching DOID:3413 alpha-mannosidosis oboInOwl:hasDbXref UMLS:C0024748 semapv:UnspecifiedMatching DOID:3413 alpha-mannosidosis skos:exactMatch MESH:D008363 semapv:UnspecifiedMatching -DOID:3413 alpha-mannosidosis skos:exactMatch OMIM:248500 semapv:UnspecifiedMatching DOID:3417 glossopharyngeal nerve neoplasm oboInOwl:hasDbXref NCI:C5828 semapv:UnspecifiedMatching DOID:3417 glossopharyngeal nerve neoplasm oboInOwl:hasDbXref UMLS:C1263900 semapv:UnspecifiedMatching DOID:3418 glossopharyngeal nerve disease oboInOwl:hasDbXref ICD10CM:G52 semapv:UnspecifiedMatching @@ -28849,11 +18093,9 @@ DOID:3429 inclusion body myositis oboInOwl:hasDbXref ICD10CM:G72.41 semapv:Unspe DOID:3429 inclusion body myositis oboInOwl:hasDbXref ICD9CM:359.71 semapv:UnspecifiedMatching DOID:3429 inclusion body myositis oboInOwl:hasDbXref MESH:D018979 semapv:UnspecifiedMatching DOID:3429 inclusion body myositis oboInOwl:hasDbXref NCI:C84786 semapv:UnspecifiedMatching -DOID:3429 inclusion body myositis oboInOwl:hasDbXref OMIM:147421 semapv:UnspecifiedMatching DOID:3429 inclusion body myositis oboInOwl:hasDbXref ORDO:611 semapv:UnspecifiedMatching DOID:3429 inclusion body myositis oboInOwl:hasDbXref UMLS:C0238190 semapv:UnspecifiedMatching DOID:3429 inclusion body myositis skos:exactMatch MESH:D018979 semapv:UnspecifiedMatching -DOID:3429 inclusion body myositis skos:exactMatch OMIM:147421 semapv:UnspecifiedMatching DOID:3431 cerebritis oboInOwl:hasDbXref NCI:C27199 semapv:UnspecifiedMatching DOID:3431 cerebritis oboInOwl:hasDbXref UMLS:C0742115 semapv:UnspecifiedMatching DOID:3436 viral laryngitis oboInOwl:hasDbXref NCI:C27305 semapv:UnspecifiedMatching @@ -28944,10 +18186,8 @@ DOID:3490 Noonan syndrome oboInOwl:hasDbXref GARD:10955 semapv:UnspecifiedMatchi DOID:3490 Noonan syndrome oboInOwl:hasDbXref ICD10CM:Q87.19 semapv:UnspecifiedMatching DOID:3490 Noonan syndrome oboInOwl:hasDbXref MESH:D009634 semapv:UnspecifiedMatching DOID:3490 Noonan syndrome oboInOwl:hasDbXref NCI:C34854 semapv:UnspecifiedMatching -DOID:3490 Noonan syndrome oboInOwl:hasDbXref OMIMPS:163950 semapv:UnspecifiedMatching DOID:3490 Noonan syndrome oboInOwl:hasDbXref ORDO:648 semapv:UnspecifiedMatching DOID:3490 Noonan syndrome oboInOwl:hasDbXref UMLS:C0028326 semapv:UnspecifiedMatching -DOID:3490 Noonan syndrome skos:exactMatch OMIMPS:163950 semapv:UnspecifiedMatching DOID:3491 Turner syndrome oboInOwl:hasDbXref GARD:2540 semapv:UnspecifiedMatching DOID:3491 Turner syndrome oboInOwl:hasDbXref GARD:7831 semapv:UnspecifiedMatching DOID:3491 Turner syndrome oboInOwl:hasDbXref ICD10CM:Q96 semapv:UnspecifiedMatching @@ -28978,9 +18218,7 @@ DOID:350 mastocytosis oboInOwl:hasDbXref GARD:6987 semapv:UnspecifiedMatching DOID:350 mastocytosis oboInOwl:hasDbXref ICD10CM:D47.09 semapv:UnspecifiedMatching DOID:350 mastocytosis oboInOwl:hasDbXref MESH:D008415 semapv:UnspecifiedMatching DOID:350 mastocytosis oboInOwl:hasDbXref NCI:C84269 semapv:UnspecifiedMatching -DOID:350 mastocytosis oboInOwl:hasDbXref OMIM:154800 semapv:UnspecifiedMatching DOID:350 mastocytosis oboInOwl:hasDbXref UMLS:C0024899 semapv:UnspecifiedMatching -DOID:350 mastocytosis skos:exactMatch OMIM:154800 semapv:UnspecifiedMatching DOID:3500 gallbladder adenocarcinoma oboInOwl:hasDbXref NCI:C9166 semapv:UnspecifiedMatching DOID:3500 gallbladder adenocarcinoma oboInOwl:hasDbXref UMLS:C0279651 semapv:UnspecifiedMatching DOID:3501 ampullary signet ring cell adenocarcinoma oboInOwl:hasDbXref NCI:C6656 semapv:UnspecifiedMatching @@ -28994,9 +18232,7 @@ DOID:3504 prostate signet ring cell adenocarcinoma oboInOwl:hasDbXref UMLS:C1335 DOID:3507 dermatofibrosarcoma protuberans oboInOwl:hasDbXref GARD:9569 semapv:UnspecifiedMatching DOID:3507 dermatofibrosarcoma protuberans oboInOwl:hasDbXref ICDO:8832/1 semapv:UnspecifiedMatching DOID:3507 dermatofibrosarcoma protuberans oboInOwl:hasDbXref MESH:D018223 semapv:UnspecifiedMatching -DOID:3507 dermatofibrosarcoma protuberans oboInOwl:hasDbXref OMIM:607907 semapv:UnspecifiedMatching DOID:3507 dermatofibrosarcoma protuberans oboInOwl:hasDbXref UMLS:C0206647 semapv:UnspecifiedMatching -DOID:3507 dermatofibrosarcoma protuberans skos:exactMatch OMIM:607907 semapv:UnspecifiedMatching DOID:3508 stricture or kinking of ureter oboInOwl:hasDbXref ICD9CM:593.3 semapv:UnspecifiedMatching DOID:3508 stricture or kinking of ureter oboInOwl:hasDbXref UMLS:C0156261 semapv:UnspecifiedMatching DOID:3512 neurofibrosarcoma oboInOwl:hasDbXref GARD:8211 semapv:UnspecifiedMatching @@ -29019,9 +18255,7 @@ DOID:3525 middle cerebral artery infarction oboInOwl:hasDbXref UMLS:C0740392 sem DOID:3526 cerebral infarction oboInOwl:hasDbXref ICD10CM:I63 semapv:UnspecifiedMatching DOID:3526 cerebral infarction oboInOwl:hasDbXref MESH:D002544 semapv:UnspecifiedMatching DOID:3526 cerebral infarction oboInOwl:hasDbXref NCI:C50486 semapv:UnspecifiedMatching -DOID:3526 cerebral infarction oboInOwl:hasDbXref OMIM:601367 semapv:UnspecifiedMatching DOID:3526 cerebral infarction oboInOwl:hasDbXref UMLS:C0007785 semapv:UnspecifiedMatching -DOID:3526 cerebral infarction skos:exactMatch OMIM:601367 semapv:UnspecifiedMatching DOID:3527 cerebral arterial disease oboInOwl:hasDbXref MESH:D002539 semapv:UnspecifiedMatching DOID:3527 cerebral arterial disease oboInOwl:hasDbXref UMLS:C0007774 semapv:UnspecifiedMatching DOID:3528 anterior cerebral artery infarction oboInOwl:hasDbXref MESH:D020243 semapv:UnspecifiedMatching @@ -29030,18 +18264,14 @@ DOID:3529 congenital myopathy 1A oboInOwl:hasDbXref GARD:6014 semapv:Unspecified DOID:3529 congenital myopathy 1A oboInOwl:hasDbXref ICD10CM:G71.29 semapv:UnspecifiedMatching DOID:3529 congenital myopathy 1A oboInOwl:hasDbXref MESH:D020512 semapv:UnspecifiedMatching DOID:3529 congenital myopathy 1A oboInOwl:hasDbXref NCI:C83010 semapv:UnspecifiedMatching -DOID:3529 congenital myopathy 1A oboInOwl:hasDbXref OMIM:117000 semapv:UnspecifiedMatching DOID:3529 congenital myopathy 1A oboInOwl:hasDbXref ORDO:597 semapv:UnspecifiedMatching DOID:3529 congenital myopathy 1A oboInOwl:hasDbXref UMLS:C0751951 semapv:UnspecifiedMatching -DOID:3529 congenital myopathy 1A skos:exactMatch OMIM:117000 semapv:UnspecifiedMatching DOID:3530 chronic wasting disease oboInOwl:hasDbXref MESH:D034081 semapv:UnspecifiedMatching DOID:3530 chronic wasting disease oboInOwl:hasDbXref UMLS:C1135993 semapv:UnspecifiedMatching DOID:3534 Lafora disease oboInOwl:hasDbXref GARD:8214 semapv:UnspecifiedMatching DOID:3534 Lafora disease oboInOwl:hasDbXref MESH:D020192 semapv:UnspecifiedMatching DOID:3534 Lafora disease oboInOwl:hasDbXref NCI:C84804 semapv:UnspecifiedMatching -DOID:3534 Lafora disease oboInOwl:hasDbXref OMIM:254780 semapv:UnspecifiedMatching DOID:3534 Lafora disease oboInOwl:hasDbXref UMLS:C0751783 semapv:UnspecifiedMatching -DOID:3534 Lafora disease skos:exactMatch OMIM:254780 semapv:UnspecifiedMatching DOID:3535 Unverricht-Lundborg syndrome oboInOwl:hasDbXref GARD:3876 semapv:UnspecifiedMatching DOID:3535 Unverricht-Lundborg syndrome oboInOwl:hasDbXref MESH:D020194 semapv:UnspecifiedMatching DOID:3535 Unverricht-Lundborg syndrome oboInOwl:hasDbXref NCI:C179710 semapv:UnspecifiedMatching @@ -29129,11 +18359,9 @@ DOID:3590 gestational trophoblastic neoplasm oboInOwl:hasDbXref MESH:D031901 sem DOID:3590 gestational trophoblastic neoplasm oboInOwl:hasDbXref NCI:C3110 semapv:UnspecifiedMatching DOID:3590 gestational trophoblastic neoplasm oboInOwl:hasDbXref NCI:C4699 semapv:UnspecifiedMatching DOID:3590 gestational trophoblastic neoplasm oboInOwl:hasDbXref NCI:C7887 semapv:UnspecifiedMatching -DOID:3590 gestational trophoblastic neoplasm oboInOwl:hasDbXref OMIM:231090 semapv:UnspecifiedMatching DOID:3590 gestational trophoblastic neoplasm oboInOwl:hasDbXref UMLS:C0020217 semapv:UnspecifiedMatching DOID:3590 gestational trophoblastic neoplasm oboInOwl:hasDbXref UMLS:C0278796 semapv:UnspecifiedMatching DOID:3590 gestational trophoblastic neoplasm oboInOwl:hasDbXref UMLS:C1135868 semapv:UnspecifiedMatching -DOID:3590 gestational trophoblastic neoplasm skos:exactMatch OMIM:231090 semapv:UnspecifiedMatching DOID:3593 epithelioid trophoblastic tumor oboInOwl:hasDbXref NCI:C6900 semapv:UnspecifiedMatching DOID:3593 epithelioid trophoblastic tumor oboInOwl:hasDbXref UMLS:C1266159 semapv:UnspecifiedMatching DOID:3594 choriocarcinoma oboInOwl:hasDbXref GARD:6059 semapv:UnspecifiedMatching @@ -29179,9 +18407,7 @@ DOID:3612 retinitis oboInOwl:hasDbXref UMLS:C0035333 semapv:UnspecifiedMatching DOID:3613 Canavan disease oboInOwl:hasDbXref GARD:5984 semapv:UnspecifiedMatching DOID:3613 Canavan disease oboInOwl:hasDbXref MESH:D017825 semapv:UnspecifiedMatching DOID:3613 Canavan disease oboInOwl:hasDbXref NCI:C84611 semapv:UnspecifiedMatching -DOID:3613 Canavan disease oboInOwl:hasDbXref OMIM:271900 semapv:UnspecifiedMatching DOID:3613 Canavan disease oboInOwl:hasDbXref UMLS:C0206307 semapv:UnspecifiedMatching -DOID:3613 Canavan disease skos:exactMatch OMIM:271900 semapv:UnspecifiedMatching DOID:3614 Kallmann syndrome oboInOwl:hasDbXref GARD:10771 semapv:UnspecifiedMatching DOID:3614 Kallmann syndrome oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching DOID:3614 Kallmann syndrome oboInOwl:hasDbXref MESH:D017436 semapv:UnspecifiedMatching @@ -29238,16 +18464,12 @@ DOID:363 uterine cancer oboInOwl:hasDbXref UMLS:C0042138 semapv:UnspecifiedMatch DOID:363 uterine cancer oboInOwl:hasDbXref UMLS:C0153567 semapv:UnspecifiedMatching DOID:3633 beta-mannosidosis oboInOwl:hasDbXref MESH:D044905 semapv:UnspecifiedMatching DOID:3633 beta-mannosidosis oboInOwl:hasDbXref NCI:C84596 semapv:UnspecifiedMatching -DOID:3633 beta-mannosidosis oboInOwl:hasDbXref OMIM:248510 semapv:UnspecifiedMatching DOID:3633 beta-mannosidosis oboInOwl:hasDbXref UMLS:C4048196 semapv:UnspecifiedMatching -DOID:3633 beta-mannosidosis skos:exactMatch OMIM:248510 semapv:UnspecifiedMatching DOID:3635 congenital myasthenic syndrome oboInOwl:hasDbXref GARD:11902 semapv:UnspecifiedMatching DOID:3635 congenital myasthenic syndrome oboInOwl:hasDbXref MESH:D020294 semapv:UnspecifiedMatching DOID:3635 congenital myasthenic syndrome oboInOwl:hasDbXref NCI:C84647 semapv:UnspecifiedMatching -DOID:3635 congenital myasthenic syndrome oboInOwl:hasDbXref OMIMPS:601462 semapv:UnspecifiedMatching DOID:3635 congenital myasthenic syndrome oboInOwl:hasDbXref ORDO:590 semapv:UnspecifiedMatching DOID:3635 congenital myasthenic syndrome oboInOwl:hasDbXref UMLS:C0751882 semapv:UnspecifiedMatching -DOID:3635 congenital myasthenic syndrome skos:exactMatch OMIMPS:601462 semapv:UnspecifiedMatching DOID:3637 childhood spinal cord tumor oboInOwl:hasDbXref NCI:C9234 semapv:UnspecifiedMatching DOID:3637 childhood spinal cord tumor oboInOwl:hasDbXref UMLS:C1134515 semapv:UnspecifiedMatching DOID:3639 spinal cord intramedullary teratoma oboInOwl:hasDbXref NCI:C5428 semapv:UnspecifiedMatching @@ -29273,11 +18495,6 @@ DOID:3649 pyruvate decarboxylase deficiency oboInOwl:hasDbXref GARD:7513 semapv: DOID:3649 pyruvate decarboxylase deficiency oboInOwl:hasDbXref ICD10CM:E74.4 semapv:UnspecifiedMatching DOID:3649 pyruvate decarboxylase deficiency oboInOwl:hasDbXref MESH:D015325 semapv:UnspecifiedMatching DOID:3649 pyruvate decarboxylase deficiency oboInOwl:hasDbXref NCI:C103968 semapv:UnspecifiedMatching -DOID:3649 pyruvate decarboxylase deficiency oboInOwl:hasDbXref OMIM:245348 semapv:UnspecifiedMatching -DOID:3649 pyruvate decarboxylase deficiency oboInOwl:hasDbXref OMIM:245349 semapv:UnspecifiedMatching -DOID:3649 pyruvate decarboxylase deficiency oboInOwl:hasDbXref OMIM:312170 semapv:UnspecifiedMatching -DOID:3649 pyruvate decarboxylase deficiency oboInOwl:hasDbXref OMIM:608782 semapv:UnspecifiedMatching -DOID:3649 pyruvate decarboxylase deficiency oboInOwl:hasDbXref OMIM:614111 semapv:UnspecifiedMatching DOID:3649 pyruvate decarboxylase deficiency oboInOwl:hasDbXref ORDO:79243 semapv:UnspecifiedMatching DOID:3649 pyruvate decarboxylase deficiency oboInOwl:hasDbXref UMLS:C0034345 semapv:UnspecifiedMatching DOID:365 bladder disease oboInOwl:hasDbXref ICD10CM:N32.9 semapv:UnspecifiedMatching @@ -29292,21 +18509,15 @@ DOID:3650 lactic acidosis oboInOwl:hasDbXref UMLS:C0001125 semapv:UnspecifiedMat DOID:3651 pyruvate carboxylase deficiency disease oboInOwl:hasDbXref ICD10CM:E74.4 semapv:UnspecifiedMatching DOID:3651 pyruvate carboxylase deficiency disease oboInOwl:hasDbXref MESH:D015324 semapv:UnspecifiedMatching DOID:3651 pyruvate carboxylase deficiency disease oboInOwl:hasDbXref NCI:C85040 semapv:UnspecifiedMatching -DOID:3651 pyruvate carboxylase deficiency disease oboInOwl:hasDbXref OMIM:266150 semapv:UnspecifiedMatching DOID:3651 pyruvate carboxylase deficiency disease oboInOwl:hasDbXref UMLS:C0034341 semapv:UnspecifiedMatching -DOID:3651 pyruvate carboxylase deficiency disease skos:exactMatch OMIM:266150 semapv:UnspecifiedMatching DOID:3652 Leigh disease oboInOwl:hasDbXref GARD:6877 semapv:UnspecifiedMatching DOID:3652 Leigh disease oboInOwl:hasDbXref ICD10CM:G31.82 semapv:UnspecifiedMatching DOID:3652 Leigh disease oboInOwl:hasDbXref MESH:D007888 semapv:UnspecifiedMatching DOID:3652 Leigh disease oboInOwl:hasDbXref NCI:C84814 semapv:UnspecifiedMatching -DOID:3652 Leigh disease oboInOwl:hasDbXref OMIM:256000 semapv:UnspecifiedMatching DOID:3652 Leigh disease oboInOwl:hasDbXref ORDO:506 semapv:UnspecifiedMatching DOID:3652 Leigh disease oboInOwl:hasDbXref UMLS:C0023264 semapv:UnspecifiedMatching -DOID:3652 Leigh disease skos:exactMatch OMIM:256000 semapv:UnspecifiedMatching DOID:3659 sialuria oboInOwl:hasDbXref MESH:D029461 semapv:UnspecifiedMatching DOID:3659 sialuria oboInOwl:hasDbXref NCI:C85067 semapv:UnspecifiedMatching -DOID:3659 sialuria oboInOwl:hasDbXref OMIM:269921 semapv:UnspecifiedMatching -DOID:3659 sialuria oboInOwl:hasDbXref OMIM:604369 semapv:UnspecifiedMatching DOID:3659 sialuria oboInOwl:hasDbXref UMLS:C0342853 semapv:UnspecifiedMatching DOID:3660 wheat allergy oboInOwl:hasDbXref MESH:D021182 semapv:UnspecifiedMatching DOID:3660 wheat allergy oboInOwl:hasDbXref UMLS:C0949570 semapv:UnspecifiedMatching @@ -29358,9 +18569,7 @@ DOID:3683 lung benign neoplasm oboInOwl:hasDbXref UMLS:C0024121 semapv:Unspecifi DOID:3687 MELAS syndrome oboInOwl:hasDbXref ICD10CM:E88.41 semapv:UnspecifiedMatching DOID:3687 MELAS syndrome oboInOwl:hasDbXref MESH:D017241 semapv:UnspecifiedMatching DOID:3687 MELAS syndrome oboInOwl:hasDbXref NCI:C84885 semapv:UnspecifiedMatching -DOID:3687 MELAS syndrome oboInOwl:hasDbXref OMIM:540000 semapv:UnspecifiedMatching DOID:3687 MELAS syndrome oboInOwl:hasDbXref UMLS:C0162671 semapv:UnspecifiedMatching -DOID:3687 MELAS syndrome skos:exactMatch OMIM:540000 semapv:UnspecifiedMatching DOID:3688 plexopathy oboInOwl:hasDbXref NCI:C27744 semapv:UnspecifiedMatching DOID:3688 plexopathy oboInOwl:hasDbXref UMLS:C1335437 semapv:UnspecifiedMatching DOID:3689 brachial plexus neuritis oboInOwl:hasDbXref ICD10CM:G54.5 semapv:UnspecifiedMatching @@ -29481,19 +18690,15 @@ DOID:3753 Hermansky-Pudlak syndrome oboInOwl:hasDbXref GARD:6643 semapv:Unspecif DOID:3753 Hermansky-Pudlak syndrome oboInOwl:hasDbXref ICD10CM:E70.331 semapv:UnspecifiedMatching DOID:3753 Hermansky-Pudlak syndrome oboInOwl:hasDbXref MESH:D022861 semapv:UnspecifiedMatching DOID:3753 Hermansky-Pudlak syndrome oboInOwl:hasDbXref NCI:C37261 semapv:UnspecifiedMatching -DOID:3753 Hermansky-Pudlak syndrome oboInOwl:hasDbXref OMIMPS:203300 semapv:UnspecifiedMatching DOID:3753 Hermansky-Pudlak syndrome oboInOwl:hasDbXref ORDO:231531 semapv:UnspecifiedMatching DOID:3753 Hermansky-Pudlak syndrome oboInOwl:hasDbXref ORDO:231537 semapv:UnspecifiedMatching DOID:3753 Hermansky-Pudlak syndrome oboInOwl:hasDbXref ORDO:280663 semapv:UnspecifiedMatching DOID:3753 Hermansky-Pudlak syndrome oboInOwl:hasDbXref ORDO:79430 semapv:UnspecifiedMatching DOID:3753 Hermansky-Pudlak syndrome oboInOwl:hasDbXref UMLS:C0079504 semapv:UnspecifiedMatching -DOID:3753 Hermansky-Pudlak syndrome skos:exactMatch OMIMPS:203300 semapv:UnspecifiedMatching DOID:3755 antithrombin III deficiency oboInOwl:hasDbXref ICD10CM:D68.59 semapv:UnspecifiedMatching DOID:3755 antithrombin III deficiency oboInOwl:hasDbXref MESH:D020152 semapv:UnspecifiedMatching DOID:3755 antithrombin III deficiency oboInOwl:hasDbXref NCI:C98815 semapv:UnspecifiedMatching -DOID:3755 antithrombin III deficiency oboInOwl:hasDbXref OMIM:613118 semapv:UnspecifiedMatching DOID:3755 antithrombin III deficiency oboInOwl:hasDbXref UMLS:C0272375 semapv:UnspecifiedMatching -DOID:3755 antithrombin III deficiency skos:exactMatch OMIM:613118 semapv:UnspecifiedMatching DOID:3756 protein C deficiency oboInOwl:hasDbXref GARD:4521 semapv:UnspecifiedMatching DOID:3756 protein C deficiency oboInOwl:hasDbXref ICD10CM:D68.59 semapv:UnspecifiedMatching DOID:3756 protein C deficiency oboInOwl:hasDbXref MESH:D020151 semapv:UnspecifiedMatching @@ -29503,18 +18708,14 @@ DOID:3756 protein C deficiency oboInOwl:hasDbXref UMLS:C0398625 semapv:Unspecifi DOID:3762 cytochrome-c oxidase deficiency disease oboInOwl:hasDbXref GARD:48 semapv:UnspecifiedMatching DOID:3762 cytochrome-c oxidase deficiency disease oboInOwl:hasDbXref MESH:D030401 semapv:UnspecifiedMatching DOID:3762 cytochrome-c oxidase deficiency disease oboInOwl:hasDbXref NCI:C98910 semapv:UnspecifiedMatching -DOID:3762 cytochrome-c oxidase deficiency disease oboInOwl:hasDbXref OMIMPS:220110 semapv:UnspecifiedMatching DOID:3762 cytochrome-c oxidase deficiency disease oboInOwl:hasDbXref UMLS:C0268237 semapv:UnspecifiedMatching -DOID:3762 cytochrome-c oxidase deficiency disease skos:exactMatch OMIMPS:220110 semapv:UnspecifiedMatching DOID:3763 hermaphroditism oboInOwl:hasDbXref MESH:D012734 semapv:UnspecifiedMatching DOID:3763 hermaphroditism oboInOwl:hasDbXref NCI:C45909 semapv:UnspecifiedMatching DOID:3763 hermaphroditism oboInOwl:hasDbXref UMLS:C0019269 semapv:UnspecifiedMatching DOID:3764 Denys-Drash syndrome oboInOwl:hasDbXref GARD:5576 semapv:UnspecifiedMatching DOID:3764 Denys-Drash syndrome oboInOwl:hasDbXref MESH:D030321 semapv:UnspecifiedMatching DOID:3764 Denys-Drash syndrome oboInOwl:hasDbXref NCI:C84668 semapv:UnspecifiedMatching -DOID:3764 Denys-Drash syndrome oboInOwl:hasDbXref OMIM:194080 semapv:UnspecifiedMatching DOID:3764 Denys-Drash syndrome oboInOwl:hasDbXref UMLS:C0950121 semapv:UnspecifiedMatching -DOID:3764 Denys-Drash syndrome skos:exactMatch OMIM:194080 semapv:UnspecifiedMatching DOID:3765 pseudohermaphroditism oboInOwl:hasDbXref ICD10CM:Q56 semapv:UnspecifiedMatching DOID:3765 pseudohermaphroditism oboInOwl:hasDbXref ICD10CM:Q56.3 semapv:UnspecifiedMatching DOID:3765 pseudohermaphroditism oboInOwl:hasDbXref ICD9CM:752.7 semapv:UnspecifiedMatching @@ -29549,9 +18750,7 @@ DOID:3781 anovulation oboInOwl:hasDbXref UMLS:C0003128 semapv:UnspecifiedMatchin DOID:3783 Coffin-Lowry syndrome oboInOwl:hasDbXref GARD:6123 semapv:UnspecifiedMatching DOID:3783 Coffin-Lowry syndrome oboInOwl:hasDbXref MESH:D038921 semapv:UnspecifiedMatching DOID:3783 Coffin-Lowry syndrome oboInOwl:hasDbXref NCI:C84643 semapv:UnspecifiedMatching -DOID:3783 Coffin-Lowry syndrome oboInOwl:hasDbXref OMIM:303600 semapv:UnspecifiedMatching DOID:3783 Coffin-Lowry syndrome oboInOwl:hasDbXref UMLS:C0265252 semapv:UnspecifiedMatching -DOID:3783 Coffin-Lowry syndrome skos:exactMatch OMIM:303600 semapv:UnspecifiedMatching DOID:379 external ear disease oboInOwl:hasDbXref ICD10CM:H61.9 semapv:UnspecifiedMatching DOID:379 external ear disease oboInOwl:hasDbXref ICD9CM:380 semapv:UnspecifiedMatching DOID:379 external ear disease oboInOwl:hasDbXref NCI:C26972 semapv:UnspecifiedMatching @@ -29561,20 +18760,16 @@ DOID:3798 pleural empyema oboInOwl:hasDbXref MESH:D016724 semapv:UnspecifiedMatc DOID:3798 pleural empyema oboInOwl:hasDbXref NCI:C45692 semapv:UnspecifiedMatching DOID:3798 pleural empyema oboInOwl:hasDbXref UMLS:C0014013 semapv:UnspecifiedMatching DOID:3803 Crigler-Najjar syndrome oboInOwl:hasDbXref MESH:D003414 semapv:UnspecifiedMatching -DOID:3803 Crigler-Najjar syndrome oboInOwl:hasDbXref OMIM:218800 semapv:UnspecifiedMatching DOID:3803 Crigler-Najjar syndrome oboInOwl:hasDbXref ORDO:205 semapv:UnspecifiedMatching DOID:3803 Crigler-Najjar syndrome oboInOwl:hasDbXref UMLS:C0010324 semapv:UnspecifiedMatching DOID:3803 Crigler-Najjar syndrome skos:exactMatch MESH:D003414 semapv:UnspecifiedMatching -DOID:3803 Crigler-Najjar syndrome skos:exactMatch OMIM:218800 semapv:UnspecifiedMatching DOID:3805 porokeratosis oboInOwl:hasDbXref GARD:10983 semapv:UnspecifiedMatching DOID:3805 porokeratosis oboInOwl:hasDbXref ICD10CM:L56.5 semapv:UnspecifiedMatching DOID:3805 porokeratosis oboInOwl:hasDbXref ICD9CM:692.75 semapv:UnspecifiedMatching DOID:3805 porokeratosis oboInOwl:hasDbXref MESH:D017499 semapv:UnspecifiedMatching DOID:3805 porokeratosis oboInOwl:hasDbXref NCI:C85019 semapv:UnspecifiedMatching -DOID:3805 porokeratosis oboInOwl:hasDbXref OMIM:175800 semapv:UnspecifiedMatching DOID:3805 porokeratosis oboInOwl:hasDbXref UMLS:C0162839 semapv:UnspecifiedMatching DOID:3805 porokeratosis oboInOwl:hasDbXref UMLS:C0265970 semapv:UnspecifiedMatching -DOID:3805 porokeratosis skos:exactMatch OMIM:175800 semapv:UnspecifiedMatching DOID:3809 epidural spinal canal meningioma oboInOwl:hasDbXref NCI:C5310 semapv:UnspecifiedMatching DOID:3809 epidural spinal canal meningioma oboInOwl:hasDbXref UMLS:C1333417 semapv:UnspecifiedMatching DOID:381 arthropathy oboInOwl:hasDbXref ICD10CM:M00-M02 semapv:UnspecifiedMatching @@ -29608,9 +18803,6 @@ DOID:3827 congenital diaphragmatic hernia oboInOwl:hasDbXref GARD:1481 semapv:Un DOID:3827 congenital diaphragmatic hernia oboInOwl:hasDbXref ICD10CM:K44 semapv:UnspecifiedMatching DOID:3827 congenital diaphragmatic hernia oboInOwl:hasDbXref MESH:D006548 semapv:UnspecifiedMatching DOID:3827 congenital diaphragmatic hernia oboInOwl:hasDbXref NCI:C34687 semapv:UnspecifiedMatching -DOID:3827 congenital diaphragmatic hernia oboInOwl:hasDbXref OMIM:142340 semapv:UnspecifiedMatching -DOID:3827 congenital diaphragmatic hernia oboInOwl:hasDbXref OMIM:222400 semapv:UnspecifiedMatching -DOID:3827 congenital diaphragmatic hernia oboInOwl:hasDbXref OMIM:610187 semapv:UnspecifiedMatching DOID:3827 congenital diaphragmatic hernia oboInOwl:hasDbXref ORDO:2140 semapv:UnspecifiedMatching DOID:3827 congenital diaphragmatic hernia oboInOwl:hasDbXref UMLS:C0019284 semapv:UnspecifiedMatching DOID:3827 congenital diaphragmatic hernia skos:exactMatch ICD10CM:Q79.0 semapv:UnspecifiedMatching @@ -29621,18 +18813,14 @@ DOID:3828 chromophobe adenoma oboInOwl:hasDbXref UMLS:C0001432 semapv:Unspecifie DOID:3829 pituitary adenoma oboInOwl:hasDbXref ICDO:8272/0 semapv:UnspecifiedMatching DOID:3829 pituitary adenoma oboInOwl:hasDbXref MESH:D010911 semapv:UnspecifiedMatching DOID:3829 pituitary adenoma oboInOwl:hasDbXref NCI:C3329 semapv:UnspecifiedMatching -DOID:3829 pituitary adenoma oboInOwl:hasDbXref OMIMPS:102200 semapv:UnspecifiedMatching DOID:3829 pituitary adenoma oboInOwl:hasDbXref UMLS:C0032000 semapv:UnspecifiedMatching -DOID:3829 pituitary adenoma skos:exactMatch OMIMPS:102200 semapv:UnspecifiedMatching DOID:384 Wolff-Parkinson-White syndrome oboInOwl:hasDbXref GARD:7897 semapv:UnspecifiedMatching DOID:384 Wolff-Parkinson-White syndrome oboInOwl:hasDbXref ICD10CM:I45.6 semapv:UnspecifiedMatching DOID:384 Wolff-Parkinson-White syndrome oboInOwl:hasDbXref ICD9CM:426.7 semapv:UnspecifiedMatching DOID:384 Wolff-Parkinson-White syndrome oboInOwl:hasDbXref MESH:D014927 semapv:UnspecifiedMatching DOID:384 Wolff-Parkinson-White syndrome oboInOwl:hasDbXref NCI:C35132 semapv:UnspecifiedMatching -DOID:384 Wolff-Parkinson-White syndrome oboInOwl:hasDbXref OMIM:194200 semapv:UnspecifiedMatching DOID:384 Wolff-Parkinson-White syndrome oboInOwl:hasDbXref UMLS:C0043202 semapv:UnspecifiedMatching DOID:384 Wolff-Parkinson-White syndrome oboInOwl:hasDbXref UMLS:C0392470 semapv:UnspecifiedMatching -DOID:384 Wolff-Parkinson-White syndrome skos:exactMatch OMIM:194200 semapv:UnspecifiedMatching DOID:3840 craniopharyngioma oboInOwl:hasDbXref GARD:10486 semapv:UnspecifiedMatching DOID:3840 craniopharyngioma oboInOwl:hasDbXref ICDO:9350/1 semapv:UnspecifiedMatching DOID:3840 craniopharyngioma oboInOwl:hasDbXref MESH:D003397 semapv:UnspecifiedMatching @@ -29661,12 +18849,10 @@ DOID:3852 Peutz-Jeghers syndrome oboInOwl:hasDbXref MESH:D010580 semapv:Unspecif DOID:3852 Peutz-Jeghers syndrome oboInOwl:hasDbXref NCI:C3324 semapv:UnspecifiedMatching DOID:3852 Peutz-Jeghers syndrome oboInOwl:hasDbXref NCI:C4733 semapv:UnspecifiedMatching DOID:3852 Peutz-Jeghers syndrome oboInOwl:hasDbXref NCI:C7755 semapv:UnspecifiedMatching -DOID:3852 Peutz-Jeghers syndrome oboInOwl:hasDbXref OMIM:175200 semapv:UnspecifiedMatching DOID:3852 Peutz-Jeghers syndrome oboInOwl:hasDbXref ORDO:2869 semapv:UnspecifiedMatching DOID:3852 Peutz-Jeghers syndrome oboInOwl:hasDbXref UMLS:C0031269 semapv:UnspecifiedMatching DOID:3852 Peutz-Jeghers syndrome oboInOwl:hasDbXref UMLS:C0265323 semapv:UnspecifiedMatching DOID:3852 Peutz-Jeghers syndrome oboInOwl:hasDbXref UMLS:C0456487 semapv:UnspecifiedMatching -DOID:3852 Peutz-Jeghers syndrome skos:exactMatch OMIM:175200 semapv:UnspecifiedMatching DOID:3855 seminal vesicle tumor oboInOwl:hasDbXref NCI:C39908 semapv:UnspecifiedMatching DOID:3855 seminal vesicle tumor oboInOwl:hasDbXref UMLS:C0341767 semapv:UnspecifiedMatching DOID:3856 male reproductive organ cancer oboInOwl:hasDbXref ICD10CM:C63.9 semapv:UnspecifiedMatching @@ -29715,17 +18901,13 @@ DOID:3877 functional colonic disease oboInOwl:hasDbXref UMLS:C0009374 semapv:Uns DOID:3883 Lynch syndrome oboInOwl:hasDbXref GARD:9905 semapv:UnspecifiedMatching DOID:3883 Lynch syndrome oboInOwl:hasDbXref MESH:D003123 semapv:UnspecifiedMatching DOID:3883 Lynch syndrome oboInOwl:hasDbXref NCI:C120083 semapv:UnspecifiedMatching -DOID:3883 Lynch syndrome oboInOwl:hasDbXref OMIMPS:120435 semapv:UnspecifiedMatching DOID:3883 Lynch syndrome oboInOwl:hasDbXref ORDO:144 semapv:UnspecifiedMatching DOID:3883 Lynch syndrome oboInOwl:hasDbXref UMLS:C0009405 semapv:UnspecifiedMatching DOID:3883 Lynch syndrome oboInOwl:hasDbXref UMLS:C1333990 semapv:UnspecifiedMatching -DOID:3883 Lynch syndrome skos:exactMatch OMIMPS:120435 semapv:UnspecifiedMatching DOID:3890 acute intermittent porphyria oboInOwl:hasDbXref GARD:5732 semapv:UnspecifiedMatching DOID:3890 acute intermittent porphyria oboInOwl:hasDbXref MESH:D017118 semapv:UnspecifiedMatching DOID:3890 acute intermittent porphyria oboInOwl:hasDbXref NCI:C84536 semapv:UnspecifiedMatching -DOID:3890 acute intermittent porphyria oboInOwl:hasDbXref OMIM:176000 semapv:UnspecifiedMatching DOID:3890 acute intermittent porphyria oboInOwl:hasDbXref UMLS:C0162565 semapv:UnspecifiedMatching -DOID:3890 acute intermittent porphyria skos:exactMatch OMIM:176000 semapv:UnspecifiedMatching DOID:3891 placental insufficiency oboInOwl:hasDbXref MESH:D010927 semapv:UnspecifiedMatching DOID:3891 placental insufficiency oboInOwl:hasDbXref UMLS:C0032051 semapv:UnspecifiedMatching DOID:3892 insulinoma oboInOwl:hasDbXref GARD:3010 semapv:UnspecifiedMatching @@ -29778,10 +18960,8 @@ DOID:3911 progeria oboInOwl:hasDbXref ICD10CM:E34.8 semapv:UnspecifiedMatching DOID:3911 progeria oboInOwl:hasDbXref MEDDRA:10036794 semapv:UnspecifiedMatching DOID:3911 progeria oboInOwl:hasDbXref MESH:D011371 semapv:UnspecifiedMatching DOID:3911 progeria oboInOwl:hasDbXref NCI:C34951 semapv:UnspecifiedMatching -DOID:3911 progeria oboInOwl:hasDbXref OMIM:176670 semapv:UnspecifiedMatching DOID:3911 progeria oboInOwl:hasDbXref ORDO:740 semapv:UnspecifiedMatching DOID:3911 progeria oboInOwl:hasDbXref UMLS:C0033300 semapv:UnspecifiedMatching -DOID:3911 progeria skos:exactMatch OMIM:176670 semapv:UnspecifiedMatching DOID:3917 pancreatic serous cystadenoma oboInOwl:hasDbXref NCI:C5712 semapv:UnspecifiedMatching DOID:3917 pancreatic serous cystadenoma oboInOwl:hasDbXref UMLS:C1335316 semapv:UnspecifiedMatching DOID:3918 pancreatic cystadenoma oboInOwl:hasDbXref NCI:C4374 semapv:UnspecifiedMatching @@ -29805,10 +18985,8 @@ DOID:3928 adiposis dolorosa oboInOwl:hasDbXref GARD:5750 semapv:UnspecifiedMatch DOID:3928 adiposis dolorosa oboInOwl:hasDbXref ICD10CM:E88.2 semapv:UnspecifiedMatching DOID:3928 adiposis dolorosa oboInOwl:hasDbXref MESH:D000274 semapv:UnspecifiedMatching DOID:3928 adiposis dolorosa oboInOwl:hasDbXref NCI:C84540 semapv:UnspecifiedMatching -DOID:3928 adiposis dolorosa oboInOwl:hasDbXref OMIM:103200 semapv:UnspecifiedMatching DOID:3928 adiposis dolorosa oboInOwl:hasDbXref UMLS:C0001529 semapv:UnspecifiedMatching DOID:3928 adiposis dolorosa skos:exactMatch MESH:D000274 semapv:UnspecifiedMatching -DOID:3928 adiposis dolorosa skos:exactMatch OMIM:103200 semapv:UnspecifiedMatching DOID:3930 otitis interna oboInOwl:hasDbXref UMLS:C1168225 semapv:UnspecifiedMatching DOID:3933 anterior compartment syndrome oboInOwl:hasDbXref ICD10CM:M76.81 semapv:UnspecifiedMatching DOID:3933 anterior compartment syndrome oboInOwl:hasDbXref MESH:D000868 semapv:UnspecifiedMatching @@ -29825,10 +19003,8 @@ DOID:3947 adrenal gland hyperfunction oboInOwl:hasDbXref UMLS:C0001622 semapv:Un DOID:3948 adrenocortical carcinoma oboInOwl:hasDbXref GARD:558 semapv:UnspecifiedMatching DOID:3948 adrenocortical carcinoma oboInOwl:hasDbXref MESH:D018268 semapv:UnspecifiedMatching DOID:3948 adrenocortical carcinoma oboInOwl:hasDbXref NCI:C9325 semapv:UnspecifiedMatching -DOID:3948 adrenocortical carcinoma oboInOwl:hasDbXref OMIM:202300 semapv:UnspecifiedMatching DOID:3948 adrenocortical carcinoma oboInOwl:hasDbXref UMLS:C0206686 semapv:UnspecifiedMatching DOID:3948 adrenocortical carcinoma skos:exactMatch MESH:D018268 semapv:UnspecifiedMatching -DOID:3948 adrenocortical carcinoma skos:exactMatch OMIM:202300 semapv:UnspecifiedMatching DOID:3951 acute myocarditis oboInOwl:hasDbXref ICD10CM:I40 semapv:UnspecifiedMatching DOID:3951 acute myocarditis oboInOwl:hasDbXref ICD9CM:422 semapv:UnspecifiedMatching DOID:3951 acute myocarditis oboInOwl:hasDbXref NCI:C35206 semapv:UnspecifiedMatching @@ -29848,9 +19024,7 @@ DOID:396 Loeffler endocarditis oboInOwl:hasDbXref NCI:C27044 semapv:UnspecifiedM DOID:396 Loeffler endocarditis oboInOwl:hasDbXref UMLS:C0264834 semapv:UnspecifiedMatching DOID:3962 thyroid gland follicular carcinoma oboInOwl:hasDbXref MESH:D018263 semapv:UnspecifiedMatching DOID:3962 thyroid gland follicular carcinoma oboInOwl:hasDbXref NCI:C8054 semapv:UnspecifiedMatching -DOID:3962 thyroid gland follicular carcinoma oboInOwl:hasDbXref OMIM:188470 semapv:UnspecifiedMatching DOID:3962 thyroid gland follicular carcinoma oboInOwl:hasDbXref UMLS:C0206682 semapv:UnspecifiedMatching -DOID:3962 thyroid gland follicular carcinoma skos:exactMatch OMIM:188470 semapv:UnspecifiedMatching DOID:3963 thyroid gland carcinoma oboInOwl:hasDbXref EFO:0002892 semapv:UnspecifiedMatching DOID:3963 thyroid gland carcinoma oboInOwl:hasDbXref MESH:D013964 semapv:UnspecifiedMatching DOID:3963 thyroid gland carcinoma oboInOwl:hasDbXref NCI:C4815 semapv:UnspecifiedMatching @@ -29867,14 +19041,10 @@ DOID:3968 papillary follicular thyroid adenocarcinoma oboInOwl:hasDbXref UMLS:C0 DOID:3969 thyroid gland papillary carcinoma oboInOwl:hasDbXref GARD:12027 semapv:UnspecifiedMatching DOID:3969 thyroid gland papillary carcinoma oboInOwl:hasDbXref MESH:D000077273 semapv:UnspecifiedMatching DOID:3969 thyroid gland papillary carcinoma oboInOwl:hasDbXref NCI:C4035 semapv:UnspecifiedMatching -DOID:3969 thyroid gland papillary carcinoma oboInOwl:hasDbXref OMIM:188550 semapv:UnspecifiedMatching DOID:3969 thyroid gland papillary carcinoma oboInOwl:hasDbXref UMLS:C0238463 semapv:UnspecifiedMatching -DOID:3969 thyroid gland papillary carcinoma skos:exactMatch OMIM:188550 semapv:UnspecifiedMatching DOID:397 restrictive cardiomyopathy oboInOwl:hasDbXref ICD10CM:I42.5 semapv:UnspecifiedMatching DOID:397 restrictive cardiomyopathy oboInOwl:hasDbXref MESH:D002313 semapv:UnspecifiedMatching DOID:397 restrictive cardiomyopathy oboInOwl:hasDbXref NCI:C62798 semapv:UnspecifiedMatching -DOID:397 restrictive cardiomyopathy oboInOwl:hasDbXref OMIM:115210 semapv:UnspecifiedMatching -DOID:397 restrictive cardiomyopathy oboInOwl:hasDbXref OMIMPS:115210 semapv:UnspecifiedMatching DOID:397 restrictive cardiomyopathy oboInOwl:hasDbXref ORDO:75249 semapv:UnspecifiedMatching DOID:397 restrictive cardiomyopathy oboInOwl:hasDbXref UMLS:C0007196 semapv:UnspecifiedMatching DOID:3973 thyroid gland medullary carcinoma oboInOwl:hasDbXref MESH:C536914 semapv:UnspecifiedMatching @@ -29886,10 +19056,8 @@ DOID:3981 pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref GA DOID:3981 pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref ICD10CM:G23.0 semapv:UnspecifiedMatching DOID:3981 pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref MESH:D006211 semapv:UnspecifiedMatching DOID:3981 pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref NCI:C8967 semapv:UnspecifiedMatching -DOID:3981 pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref OMIM:234200 semapv:UnspecifiedMatching DOID:3981 pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref ORDO:157850 semapv:UnspecifiedMatching DOID:3981 pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref UMLS:C0018523 semapv:UnspecifiedMatching -DOID:3981 pantothenate kinase-associated neurodegeneration skos:exactMatch OMIM:234200 semapv:UnspecifiedMatching DOID:3982 Meige syndrome oboInOwl:hasDbXref GARD:7008 semapv:UnspecifiedMatching DOID:3982 Meige syndrome oboInOwl:hasDbXref MESH:D008538 semapv:UnspecifiedMatching DOID:3982 Meige syndrome oboInOwl:hasDbXref UMLS:C0025183 semapv:UnspecifiedMatching @@ -29942,9 +19110,7 @@ DOID:402 oral tuberculosis oboInOwl:hasDbXref MESH:D014393 semapv:UnspecifiedMat DOID:402 oral tuberculosis oboInOwl:hasDbXref UMLS:C0041323 semapv:UnspecifiedMatching DOID:4022 ureterocele oboInOwl:hasDbXref MESH:D014518 semapv:UnspecifiedMatching DOID:4022 ureterocele oboInOwl:hasDbXref NCI:C123159 semapv:UnspecifiedMatching -DOID:4022 ureterocele oboInOwl:hasDbXref OMIM:191650 semapv:UnspecifiedMatching DOID:4022 ureterocele oboInOwl:hasDbXref UMLS:C0041960 semapv:UnspecifiedMatching -DOID:4022 ureterocele skos:exactMatch OMIM:191650 semapv:UnspecifiedMatching DOID:4023 linitis plastica oboInOwl:hasDbXref ICDO:8142/3 semapv:UnspecifiedMatching DOID:4023 linitis plastica oboInOwl:hasDbXref MESH:D008039 semapv:UnspecifiedMatching DOID:4023 linitis plastica oboInOwl:hasDbXref NCI:C3190 semapv:UnspecifiedMatching @@ -29957,8 +19123,6 @@ DOID:4025 obsolete steatitis oboInOwl:hasDbXref MESH:D013231 semapv:UnspecifiedM DOID:4025 obsolete steatitis oboInOwl:hasDbXref UMLS:C0038235 semapv:UnspecifiedMatching DOID:4028 angioma serpiginosum oboInOwl:hasDbXref ICD10CM:L81.7 semapv:UnspecifiedMatching DOID:4028 angioma serpiginosum oboInOwl:hasDbXref NCI:C3926 semapv:UnspecifiedMatching -DOID:4028 angioma serpiginosum oboInOwl:hasDbXref OMIM:106050 semapv:UnspecifiedMatching -DOID:4028 angioma serpiginosum oboInOwl:hasDbXref OMIM:300652 semapv:UnspecifiedMatching DOID:4028 angioma serpiginosum oboInOwl:hasDbXref ORDO:95429 semapv:UnspecifiedMatching DOID:4028 angioma serpiginosum oboInOwl:hasDbXref UMLS:C0263637 semapv:UnspecifiedMatching DOID:4029 gastritis oboInOwl:hasDbXref ICD10CM:K29.7 semapv:UnspecifiedMatching @@ -30010,10 +19174,8 @@ DOID:4051 alveolar rhabdomyosarcoma oboInOwl:hasDbXref ICDO:8920/3 semapv:Unspec DOID:4051 alveolar rhabdomyosarcoma oboInOwl:hasDbXref MESH:D018232 semapv:UnspecifiedMatching DOID:4051 alveolar rhabdomyosarcoma oboInOwl:hasDbXref NCI:C3749 semapv:UnspecifiedMatching DOID:4051 alveolar rhabdomyosarcoma oboInOwl:hasDbXref NCI:C7958 semapv:UnspecifiedMatching -DOID:4051 alveolar rhabdomyosarcoma oboInOwl:hasDbXref OMIM:268220 semapv:UnspecifiedMatching DOID:4051 alveolar rhabdomyosarcoma oboInOwl:hasDbXref UMLS:C0206655 semapv:UnspecifiedMatching DOID:4051 alveolar rhabdomyosarcoma oboInOwl:hasDbXref UMLS:C0279613 semapv:UnspecifiedMatching -DOID:4051 alveolar rhabdomyosarcoma skos:exactMatch OMIM:268220 semapv:UnspecifiedMatching DOID:4053 rectum rhabdomyosarcoma oboInOwl:hasDbXref NCI:C5627 semapv:UnspecifiedMatching DOID:4053 rectum rhabdomyosarcoma oboInOwl:hasDbXref UMLS:C1335687 semapv:UnspecifiedMatching DOID:4054 prostate sarcoma oboInOwl:hasDbXref NCI:C7731 semapv:UnspecifiedMatching @@ -30152,8 +19314,6 @@ DOID:4154 dentinogenesis imperfecta oboInOwl:hasDbXref GARD:6258 semapv:Unspecif DOID:4154 dentinogenesis imperfecta oboInOwl:hasDbXref ICD10CM:K00.5 semapv:UnspecifiedMatching DOID:4154 dentinogenesis imperfecta oboInOwl:hasDbXref MESH:D003811 semapv:UnspecifiedMatching DOID:4154 dentinogenesis imperfecta oboInOwl:hasDbXref NCI:C84667 semapv:UnspecifiedMatching -DOID:4154 dentinogenesis imperfecta oboInOwl:hasDbXref OMIM:125490 semapv:UnspecifiedMatching -DOID:4154 dentinogenesis imperfecta oboInOwl:hasDbXref OMIM:125500 semapv:UnspecifiedMatching DOID:4154 dentinogenesis imperfecta oboInOwl:hasDbXref ORDO:49042 semapv:UnspecifiedMatching DOID:4154 dentinogenesis imperfecta oboInOwl:hasDbXref UMLS:C0011436 semapv:UnspecifiedMatching DOID:4156 primary syphilis oboInOwl:hasDbXref ICD9CM:091 semapv:UnspecifiedMatching @@ -30178,9 +19338,7 @@ DOID:4166 syphilis oboInOwl:hasDbXref ICD10CM:A51.0 semapv:UnspecifiedMatching DOID:4166 syphilis oboInOwl:hasDbXref MESH:D002601 semapv:UnspecifiedMatching DOID:4166 syphilis oboInOwl:hasDbXref UMLS:C0007939 semapv:UnspecifiedMatching DOID:417 autoimmune disease oboInOwl:hasDbXref ICD9CM:720 semapv:UnspecifiedMatching -DOID:417 autoimmune disease oboInOwl:hasDbXref OMIM:109100 semapv:UnspecifiedMatching DOID:417 autoimmune disease oboInOwl:hasDbXref UMLS:C0003089 semapv:UnspecifiedMatching -DOID:417 autoimmune disease skos:exactMatch OMIM:109100 semapv:UnspecifiedMatching DOID:4175 Rh isoimmunization oboInOwl:hasDbXref MESH:D012203 semapv:UnspecifiedMatching DOID:4175 Rh isoimmunization oboInOwl:hasDbXref NCI:C113150 semapv:UnspecifiedMatching DOID:4175 Rh isoimmunization oboInOwl:hasDbXref UMLS:C0035404 semapv:UnspecifiedMatching @@ -30192,23 +19350,17 @@ DOID:418 systemic scleroderma oboInOwl:hasDbXref ICD10CM:M34.0 semapv:Unspecifie DOID:418 systemic scleroderma oboInOwl:hasDbXref ICD9CM:710.1 semapv:UnspecifiedMatching DOID:418 systemic scleroderma oboInOwl:hasDbXref MESH:D012595 semapv:UnspecifiedMatching DOID:418 systemic scleroderma oboInOwl:hasDbXref NCI:C72070 semapv:UnspecifiedMatching -DOID:418 systemic scleroderma oboInOwl:hasDbXref OMIM:181750 semapv:UnspecifiedMatching DOID:418 systemic scleroderma oboInOwl:hasDbXref UMLS:C0036421 semapv:UnspecifiedMatching -DOID:418 systemic scleroderma skos:exactMatch OMIM:181750 semapv:UnspecifiedMatching DOID:4183 pseudopseudohypoparathyroidism oboInOwl:hasDbXref GARD:7860 semapv:UnspecifiedMatching DOID:4183 pseudopseudohypoparathyroidism oboInOwl:hasDbXref MESH:D011556 semapv:UnspecifiedMatching DOID:4183 pseudopseudohypoparathyroidism oboInOwl:hasDbXref NCI:C129722 semapv:UnspecifiedMatching -DOID:4183 pseudopseudohypoparathyroidism oboInOwl:hasDbXref OMIM:612463 semapv:UnspecifiedMatching DOID:4183 pseudopseudohypoparathyroidism oboInOwl:hasDbXref UMLS:C0033835 semapv:UnspecifiedMatching -DOID:4183 pseudopseudohypoparathyroidism skos:exactMatch OMIM:612463 semapv:UnspecifiedMatching DOID:4184 pseudohypoparathyroidism oboInOwl:hasDbXref GARD:10758 semapv:UnspecifiedMatching DOID:4184 pseudohypoparathyroidism oboInOwl:hasDbXref ICD10CM:E20.1 semapv:UnspecifiedMatching DOID:4184 pseudohypoparathyroidism oboInOwl:hasDbXref MESH:D011547 semapv:UnspecifiedMatching DOID:4184 pseudohypoparathyroidism oboInOwl:hasDbXref NCI:C99027 semapv:UnspecifiedMatching -DOID:4184 pseudohypoparathyroidism oboInOwl:hasDbXref OMIM:612462 semapv:UnspecifiedMatching DOID:4184 pseudohypoparathyroidism oboInOwl:hasDbXref UMLS:C0033806 semapv:UnspecifiedMatching DOID:4184 pseudohypoparathyroidism skos:exactMatch MESH:D011547 semapv:UnspecifiedMatching -DOID:4184 pseudohypoparathyroidism skos:exactMatch OMIM:612462 semapv:UnspecifiedMatching DOID:4186 articulation disorder oboInOwl:hasDbXref MESH:D001184 semapv:UnspecifiedMatching DOID:4186 articulation disorder oboInOwl:hasDbXref UMLS:C0003910 semapv:UnspecifiedMatching DOID:4188 echolalia oboInOwl:hasDbXref MESH:D004454 semapv:UnspecifiedMatching @@ -30336,12 +19488,10 @@ DOID:4239 alveolar soft part sarcoma oboInOwl:hasDbXref MESH:D018234 semapv:Unsp DOID:4239 alveolar soft part sarcoma oboInOwl:hasDbXref NCI:C3750 semapv:UnspecifiedMatching DOID:4239 alveolar soft part sarcoma oboInOwl:hasDbXref NCI:C7943 semapv:UnspecifiedMatching DOID:4239 alveolar soft part sarcoma oboInOwl:hasDbXref NCI:C8092 semapv:UnspecifiedMatching -DOID:4239 alveolar soft part sarcoma oboInOwl:hasDbXref OMIM:606243 semapv:UnspecifiedMatching DOID:4239 alveolar soft part sarcoma oboInOwl:hasDbXref ORDO:163699 semapv:UnspecifiedMatching DOID:4239 alveolar soft part sarcoma oboInOwl:hasDbXref UMLS:C0206657 semapv:UnspecifiedMatching DOID:4239 alveolar soft part sarcoma oboInOwl:hasDbXref UMLS:C0279544 semapv:UnspecifiedMatching DOID:4239 alveolar soft part sarcoma oboInOwl:hasDbXref UMLS:C0279985 semapv:UnspecifiedMatching -DOID:4239 alveolar soft part sarcoma skos:exactMatch OMIM:606243 semapv:UnspecifiedMatching DOID:424 pulmonary immaturity oboInOwl:hasDbXref ICD10CM:P28.0 semapv:UnspecifiedMatching DOID:424 pulmonary immaturity oboInOwl:hasDbXref ICD9CM:770.4 semapv:UnspecifiedMatching DOID:424 pulmonary immaturity oboInOwl:hasDbXref UMLS:C0270163 semapv:UnspecifiedMatching @@ -30357,9 +19507,7 @@ DOID:4249 Gerstmann-Straussler-Scheinker syndrome oboInOwl:hasDbXref ICD10CM:A81 DOID:4249 Gerstmann-Straussler-Scheinker syndrome oboInOwl:hasDbXref ICD9CM:046.71 semapv:UnspecifiedMatching DOID:4249 Gerstmann-Straussler-Scheinker syndrome oboInOwl:hasDbXref MESH:D016098 semapv:UnspecifiedMatching DOID:4249 Gerstmann-Straussler-Scheinker syndrome oboInOwl:hasDbXref NCI:C84727 semapv:UnspecifiedMatching -DOID:4249 Gerstmann-Straussler-Scheinker syndrome oboInOwl:hasDbXref OMIM:137440 semapv:UnspecifiedMatching DOID:4249 Gerstmann-Straussler-Scheinker syndrome oboInOwl:hasDbXref UMLS:C0017495 semapv:UnspecifiedMatching -DOID:4249 Gerstmann-Straussler-Scheinker syndrome skos:exactMatch OMIM:137440 semapv:UnspecifiedMatching DOID:4250 conjunctivochalasis oboInOwl:hasDbXref ICD10CM:H11.82 semapv:UnspecifiedMatching DOID:4250 conjunctivochalasis oboInOwl:hasDbXref ICD9CM:372.81 semapv:UnspecifiedMatching DOID:4250 conjunctivochalasis oboInOwl:hasDbXref UMLS:C0878693 semapv:UnspecifiedMatching @@ -30371,17 +19519,13 @@ DOID:4251 conjunctival disease oboInOwl:hasDbXref UMLS:C0009759 semapv:Unspecifi DOID:4252 Alexander disease oboInOwl:hasDbXref GARD:5774 semapv:UnspecifiedMatching DOID:4252 Alexander disease oboInOwl:hasDbXref MESH:D038261 semapv:UnspecifiedMatching DOID:4252 Alexander disease oboInOwl:hasDbXref NCI:C84545 semapv:UnspecifiedMatching -DOID:4252 Alexander disease oboInOwl:hasDbXref OMIM:203450 semapv:UnspecifiedMatching DOID:4252 Alexander disease oboInOwl:hasDbXref UMLS:C0270726 semapv:UnspecifiedMatching DOID:4252 Alexander disease skos:exactMatch MESH:D038261 semapv:UnspecifiedMatching -DOID:4252 Alexander disease skos:exactMatch OMIM:203450 semapv:UnspecifiedMatching DOID:4253 melorheostosis oboInOwl:hasDbXref GARD:9474 semapv:UnspecifiedMatching DOID:4253 melorheostosis oboInOwl:hasDbXref MESH:D008557 semapv:UnspecifiedMatching DOID:4253 melorheostosis oboInOwl:hasDbXref NCI:C84887 semapv:UnspecifiedMatching -DOID:4253 melorheostosis oboInOwl:hasDbXref OMIM:155950 semapv:UnspecifiedMatching DOID:4253 melorheostosis oboInOwl:hasDbXref UMLS:C0025239 semapv:UnspecifiedMatching DOID:4253 melorheostosis skos:exactMatch MESH:D008557 semapv:UnspecifiedMatching -DOID:4253 melorheostosis skos:exactMatch OMIM:155950 semapv:UnspecifiedMatching DOID:4254 osteosclerosis oboInOwl:hasDbXref ICD10CM:Q78.2 semapv:UnspecifiedMatching DOID:4254 osteosclerosis oboInOwl:hasDbXref MESH:D010026 semapv:UnspecifiedMatching DOID:4254 osteosclerosis oboInOwl:hasDbXref NCI:C41236 semapv:UnspecifiedMatching @@ -30390,15 +19534,11 @@ DOID:4257 Caffey disease oboInOwl:hasDbXref GARD:1051 semapv:UnspecifiedMatching DOID:4257 Caffey disease oboInOwl:hasDbXref ICD10CM:M89.8 semapv:UnspecifiedMatching DOID:4257 Caffey disease oboInOwl:hasDbXref MESH:D006958 semapv:UnspecifiedMatching DOID:4257 Caffey disease oboInOwl:hasDbXref NCI:C84645 semapv:UnspecifiedMatching -DOID:4257 Caffey disease oboInOwl:hasDbXref OMIM:114000 semapv:UnspecifiedMatching DOID:4257 Caffey disease oboInOwl:hasDbXref UMLS:C0020497 semapv:UnspecifiedMatching -DOID:4257 Caffey disease skos:exactMatch OMIM:114000 semapv:UnspecifiedMatching DOID:4258 Weissenbacher-Zweymuller syndrome oboInOwl:hasDbXref ICD10CM:Q87.0 semapv:UnspecifiedMatching DOID:4258 Weissenbacher-Zweymuller syndrome oboInOwl:hasDbXref MESH:D010855 semapv:UnspecifiedMatching DOID:4258 Weissenbacher-Zweymuller syndrome oboInOwl:hasDbXref NCI:C85010 semapv:UnspecifiedMatching -DOID:4258 Weissenbacher-Zweymuller syndrome oboInOwl:hasDbXref OMIM:261800 semapv:UnspecifiedMatching DOID:4258 Weissenbacher-Zweymuller syndrome oboInOwl:hasDbXref UMLS:C0031900 semapv:UnspecifiedMatching -DOID:4258 Weissenbacher-Zweymuller syndrome skos:exactMatch OMIM:261800 semapv:UnspecifiedMatching DOID:4260 gait apraxia oboInOwl:hasDbXref MESH:D020235 semapv:UnspecifiedMatching DOID:4260 gait apraxia oboInOwl:hasDbXref UMLS:C1510417 semapv:UnspecifiedMatching DOID:4260 gait apraxia skos:exactMatch MESH:D020235 semapv:UnspecifiedMatching @@ -30422,8 +19562,6 @@ DOID:4277 penis basal cell carcinoma oboInOwl:hasDbXref NCI:C39961 semapv:Unspec DOID:4277 penis basal cell carcinoma oboInOwl:hasDbXref UMLS:C1518949 semapv:UnspecifiedMatching DOID:4278 scrotum basal cell carcinoma oboInOwl:hasDbXref NCI:C6386 semapv:UnspecifiedMatching DOID:4278 scrotum basal cell carcinoma oboInOwl:hasDbXref UMLS:C1335934 semapv:UnspecifiedMatching -DOID:4279 infundibulocystic basal cell carcinoma oboInOwl:hasDbXref OMIM:604451 semapv:UnspecifiedMatching -DOID:4279 infundibulocystic basal cell carcinoma skos:exactMatch OMIM:604451 semapv:UnspecifiedMatching DOID:4280 nodular basal cell carcinoma oboInOwl:hasDbXref NCI:C62282 semapv:UnspecifiedMatching DOID:4280 nodular basal cell carcinoma oboInOwl:hasDbXref UMLS:C1304300 semapv:UnspecifiedMatching DOID:4283 anal margin basal cell carcinoma oboInOwl:hasDbXref ICD10CM:C44.510 semapv:UnspecifiedMatching @@ -30452,10 +19590,8 @@ DOID:4295 follicular basal cell carcinoma oboInOwl:hasDbXref NCI:C27538 semapv:U DOID:4297 scimitar syndrome oboInOwl:hasDbXref ICD10CM:Q26.8 semapv:UnspecifiedMatching DOID:4297 scimitar syndrome oboInOwl:hasDbXref MESH:D012587 semapv:UnspecifiedMatching DOID:4297 scimitar syndrome oboInOwl:hasDbXref NCI:C85056 semapv:UnspecifiedMatching -DOID:4297 scimitar syndrome oboInOwl:hasDbXref OMIM:106700 semapv:UnspecifiedMatching DOID:4297 scimitar syndrome oboInOwl:hasDbXref ORDO:185 semapv:UnspecifiedMatching DOID:4297 scimitar syndrome oboInOwl:hasDbXref UMLS:C0036400 semapv:UnspecifiedMatching -DOID:4297 scimitar syndrome skos:exactMatch OMIM:106700 semapv:UnspecifiedMatching DOID:4300 superficial basal cell carcinoma oboInOwl:hasDbXref ICDO:8091/3 semapv:UnspecifiedMatching DOID:4300 superficial basal cell carcinoma oboInOwl:hasDbXref NCI:C4108 semapv:UnspecifiedMatching DOID:4300 superficial basal cell carcinoma oboInOwl:hasDbXref UMLS:C0334256 semapv:UnspecifiedMatching @@ -30535,9 +19671,7 @@ DOID:4337 tinea capitis oboInOwl:hasDbXref UMLS:C0011640 semapv:UnspecifiedMatch DOID:4346 variegate porphyria oboInOwl:hasDbXref GARD:7848 semapv:UnspecifiedMatching DOID:4346 variegate porphyria oboInOwl:hasDbXref MESH:D046350 semapv:UnspecifiedMatching DOID:4346 variegate porphyria oboInOwl:hasDbXref NCI:C85219 semapv:UnspecifiedMatching -DOID:4346 variegate porphyria oboInOwl:hasDbXref OMIM:176200 semapv:UnspecifiedMatching DOID:4346 variegate porphyria oboInOwl:hasDbXref UMLS:C0162532 semapv:UnspecifiedMatching -DOID:4346 variegate porphyria skos:exactMatch OMIM:176200 semapv:UnspecifiedMatching DOID:4347 lymphocele oboInOwl:hasDbXref MESH:D008210 semapv:UnspecifiedMatching DOID:4347 lymphocele oboInOwl:hasDbXref NCI:C78442 semapv:UnspecifiedMatching DOID:4347 lymphocele oboInOwl:hasDbXref UMLS:C0024248 semapv:UnspecifiedMatching @@ -30563,19 +19697,15 @@ DOID:4362 cervical cancer oboInOwl:hasDbXref ICD9CM:180 semapv:UnspecifiedMatchi DOID:4362 cervical cancer oboInOwl:hasDbXref MESH:D002583 semapv:UnspecifiedMatching DOID:4362 cervical cancer oboInOwl:hasDbXref NCI:C2940 semapv:UnspecifiedMatching DOID:4362 cervical cancer oboInOwl:hasDbXref NCI:C9311 semapv:UnspecifiedMatching -DOID:4362 cervical cancer oboInOwl:hasDbXref OMIM:603956 semapv:UnspecifiedMatching DOID:4362 cervical cancer oboInOwl:hasDbXref UMLS:C0007847 semapv:UnspecifiedMatching DOID:4362 cervical cancer oboInOwl:hasDbXref UMLS:C0007873 semapv:UnspecifiedMatching -DOID:4362 cervical cancer skos:exactMatch OMIM:603956 semapv:UnspecifiedMatching DOID:4364 malignant breast melanoma oboInOwl:hasDbXref NCI:C8410 semapv:UnspecifiedMatching DOID:4364 malignant breast melanoma oboInOwl:hasDbXref UMLS:C0346787 semapv:UnspecifiedMatching DOID:4367 apparent mineralocorticoid excess syndrome oboInOwl:hasDbXref GARD:433 semapv:UnspecifiedMatching DOID:4367 apparent mineralocorticoid excess syndrome oboInOwl:hasDbXref MESH:D043204 semapv:UnspecifiedMatching DOID:4367 apparent mineralocorticoid excess syndrome oboInOwl:hasDbXref NCI:C123231 semapv:UnspecifiedMatching -DOID:4367 apparent mineralocorticoid excess syndrome oboInOwl:hasDbXref OMIM:218030 semapv:UnspecifiedMatching DOID:4367 apparent mineralocorticoid excess syndrome oboInOwl:hasDbXref ORDO:320 semapv:UnspecifiedMatching DOID:4367 apparent mineralocorticoid excess syndrome oboInOwl:hasDbXref UMLS:C0342488 semapv:UnspecifiedMatching -DOID:4367 apparent mineralocorticoid excess syndrome skos:exactMatch OMIM:218030 semapv:UnspecifiedMatching DOID:437 myasthenia gravis oboInOwl:hasDbXref GARD:7122 semapv:UnspecifiedMatching DOID:437 myasthenia gravis oboInOwl:hasDbXref ICD10CM:G70.0 semapv:UnspecifiedMatching DOID:437 myasthenia gravis oboInOwl:hasDbXref ICD10CM:G70.00 semapv:UnspecifiedMatching @@ -30583,10 +19713,8 @@ DOID:437 myasthenia gravis oboInOwl:hasDbXref ICD9CM:358.0 semapv:UnspecifiedMat DOID:437 myasthenia gravis oboInOwl:hasDbXref ICD9CM:358.00 semapv:UnspecifiedMatching DOID:437 myasthenia gravis oboInOwl:hasDbXref MESH:D009157 semapv:UnspecifiedMatching DOID:437 myasthenia gravis oboInOwl:hasDbXref NCI:C60989 semapv:UnspecifiedMatching -DOID:437 myasthenia gravis oboInOwl:hasDbXref OMIM:254200 semapv:UnspecifiedMatching DOID:437 myasthenia gravis oboInOwl:hasDbXref UMLS:C0026896 semapv:UnspecifiedMatching DOID:437 myasthenia gravis oboInOwl:hasDbXref UMLS:C1260409 semapv:UnspecifiedMatching -DOID:437 myasthenia gravis skos:exactMatch OMIM:254200 semapv:UnspecifiedMatching DOID:4370 stomach diverticulosis oboInOwl:hasDbXref MESH:D045724 semapv:UnspecifiedMatching DOID:4370 stomach diverticulosis oboInOwl:hasDbXref UMLS:C1148546 semapv:UnspecifiedMatching DOID:4371 Schnitzler syndrome oboInOwl:hasDbXref GARD:12390 semapv:UnspecifiedMatching @@ -30645,9 +19773,7 @@ DOID:440 neuromuscular disease oboInOwl:hasDbXref UMLS:C0027868 semapv:Unspecifi DOID:4400 dermatosis papulosa nigra oboInOwl:hasDbXref ICD10CM:L82 semapv:UnspecifiedMatching DOID:4400 dermatosis papulosa nigra oboInOwl:hasDbXref MESH:C562379 semapv:UnspecifiedMatching DOID:4400 dermatosis papulosa nigra oboInOwl:hasDbXref NCI:C2984 semapv:UnspecifiedMatching -DOID:4400 dermatosis papulosa nigra oboInOwl:hasDbXref OMIM:125600 semapv:UnspecifiedMatching DOID:4400 dermatosis papulosa nigra oboInOwl:hasDbXref UMLS:C0011645 semapv:UnspecifiedMatching -DOID:4400 dermatosis papulosa nigra skos:exactMatch OMIM:125600 semapv:UnspecifiedMatching DOID:4404 occupational dermatitis oboInOwl:hasDbXref MESH:D009783 semapv:UnspecifiedMatching DOID:4404 occupational dermatitis oboInOwl:hasDbXref NCI:C34859 semapv:UnspecifiedMatching DOID:4404 occupational dermatitis oboInOwl:hasDbXref UMLS:C0028796 semapv:UnspecifiedMatching @@ -30679,9 +19805,7 @@ DOID:4422 malignant adenofibroma oboInOwl:hasDbXref NCI:C40035 semapv:Unspecifie DOID:4422 malignant adenofibroma oboInOwl:hasDbXref UMLS:C1510778 semapv:UnspecifiedMatching DOID:4423 sea-blue histiocytosis oboInOwl:hasDbXref MESH:D012618 semapv:UnspecifiedMatching DOID:4423 sea-blue histiocytosis oboInOwl:hasDbXref NCI:C85062 semapv:UnspecifiedMatching -DOID:4423 sea-blue histiocytosis oboInOwl:hasDbXref OMIM:269600 semapv:UnspecifiedMatching DOID:4423 sea-blue histiocytosis oboInOwl:hasDbXref UMLS:C0036489 semapv:UnspecifiedMatching -DOID:4423 sea-blue histiocytosis skos:exactMatch OMIM:269600 semapv:UnspecifiedMatching DOID:4424 juvenile xanthogranuloma oboInOwl:hasDbXref ICDO:9749/1 semapv:UnspecifiedMatching DOID:4424 juvenile xanthogranuloma oboInOwl:hasDbXref MESH:D014972 semapv:UnspecifiedMatching DOID:4424 juvenile xanthogranuloma oboInOwl:hasDbXref NCI:C3451 semapv:UnspecifiedMatching @@ -30689,12 +19813,6 @@ DOID:4424 juvenile xanthogranuloma oboInOwl:hasDbXref UMLS:C0043324 semapv:Unspe DOID:4428 dyslexia oboInOwl:hasDbXref ICD10CM:F81.0 semapv:UnspecifiedMatching DOID:4428 dyslexia oboInOwl:hasDbXref MESH:D004410 semapv:UnspecifiedMatching DOID:4428 dyslexia oboInOwl:hasDbXref NCI:C96410 semapv:UnspecifiedMatching -DOID:4428 dyslexia oboInOwl:hasDbXref OMIM:300509 semapv:UnspecifiedMatching -DOID:4428 dyslexia oboInOwl:hasDbXref OMIM:600202 semapv:UnspecifiedMatching -DOID:4428 dyslexia oboInOwl:hasDbXref OMIM:604254 semapv:UnspecifiedMatching -DOID:4428 dyslexia oboInOwl:hasDbXref OMIM:606616 semapv:UnspecifiedMatching -DOID:4428 dyslexia oboInOwl:hasDbXref OMIM:606896 semapv:UnspecifiedMatching -DOID:4428 dyslexia oboInOwl:hasDbXref OMIM:608995 semapv:UnspecifiedMatching DOID:4428 dyslexia oboInOwl:hasDbXref UMLS:C0476254 semapv:UnspecifiedMatching DOID:4430 somatostatinoma oboInOwl:hasDbXref GARD:4900 semapv:UnspecifiedMatching DOID:4430 somatostatinoma oboInOwl:hasDbXref ICDO:8156/3 semapv:UnspecifiedMatching @@ -30729,9 +19847,7 @@ DOID:4442 cervical alveolar soft part sarcoma oboInOwl:hasDbXref NCI:C40225 sema DOID:4442 cervical alveolar soft part sarcoma oboInOwl:hasDbXref UMLS:C1516408 semapv:UnspecifiedMatching DOID:4447 cystoid macular edema oboInOwl:hasDbXref MESH:D008269 semapv:UnspecifiedMatching DOID:4447 cystoid macular edema oboInOwl:hasDbXref NCI:C34794 semapv:UnspecifiedMatching -DOID:4447 cystoid macular edema oboInOwl:hasDbXref OMIM:153880 semapv:UnspecifiedMatching DOID:4447 cystoid macular edema oboInOwl:hasDbXref UMLS:C0024440 semapv:UnspecifiedMatching -DOID:4447 cystoid macular edema skos:exactMatch OMIM:153880 semapv:UnspecifiedMatching DOID:4448 macular degeneration oboInOwl:hasDbXref MESH:D008268 semapv:UnspecifiedMatching DOID:4448 macular degeneration oboInOwl:hasDbXref NCI:C123330 semapv:UnspecifiedMatching DOID:4448 macular degeneration oboInOwl:hasDbXref ORDO:279 semapv:UnspecifiedMatching @@ -30744,18 +19860,14 @@ DOID:445 Bartter disease oboInOwl:hasDbXref ICD10CM:E26.81 semapv:UnspecifiedMat DOID:445 Bartter disease oboInOwl:hasDbXref ICD9CM:255.13 semapv:UnspecifiedMatching DOID:445 Bartter disease oboInOwl:hasDbXref MESH:D001477 semapv:UnspecifiedMatching DOID:445 Bartter disease oboInOwl:hasDbXref NCI:C34412 semapv:UnspecifiedMatching -DOID:445 Bartter disease oboInOwl:hasDbXref OMIMPS:601678 semapv:UnspecifiedMatching DOID:445 Bartter disease oboInOwl:hasDbXref UMLS:C0004775 semapv:UnspecifiedMatching -DOID:445 Bartter disease skos:exactMatch OMIMPS:601678 semapv:UnspecifiedMatching DOID:4450 renal cell carcinoma oboInOwl:hasDbXref EFO:0000681 semapv:UnspecifiedMatching DOID:4450 renal cell carcinoma oboInOwl:hasDbXref GARD:13215 semapv:UnspecifiedMatching DOID:4450 renal cell carcinoma oboInOwl:hasDbXref ICDO:8312/3 semapv:UnspecifiedMatching DOID:4450 renal cell carcinoma oboInOwl:hasDbXref MESH:D002292 semapv:UnspecifiedMatching DOID:4450 renal cell carcinoma oboInOwl:hasDbXref NCI:C9385 semapv:UnspecifiedMatching -DOID:4450 renal cell carcinoma oboInOwl:hasDbXref OMIM:300854 semapv:UnspecifiedMatching DOID:4450 renal cell carcinoma oboInOwl:hasDbXref ORDO:217071 semapv:UnspecifiedMatching DOID:4450 renal cell carcinoma oboInOwl:hasDbXref UMLS:C0007134 semapv:UnspecifiedMatching -DOID:4450 renal cell carcinoma skos:exactMatch OMIM:300854 semapv:UnspecifiedMatching DOID:4451 renal carcinoma oboInOwl:hasDbXref NCI:C9384 semapv:UnspecifiedMatching DOID:4451 renal carcinoma oboInOwl:hasDbXref UMLS:C1378703 semapv:UnspecifiedMatching DOID:4454 childhood kidney cell carcinoma oboInOwl:hasDbXref NCI:C6568 semapv:UnspecifiedMatching @@ -30769,8 +19881,6 @@ DOID:446 primary hyperaldosteronism oboInOwl:hasDbXref MESH:D003480 semapv:Unspe DOID:446 primary hyperaldosteronism oboInOwl:hasDbXref MESH:D006929 semapv:UnspecifiedMatching DOID:446 primary hyperaldosteronism oboInOwl:hasDbXref NCI:C113213 semapv:UnspecifiedMatching DOID:446 primary hyperaldosteronism oboInOwl:hasDbXref NCI:C2969 semapv:UnspecifiedMatching -DOID:446 primary hyperaldosteronism oboInOwl:hasDbXref OMIM:605635 semapv:UnspecifiedMatching -DOID:446 primary hyperaldosteronism oboInOwl:hasDbXref OMIM:613677 semapv:UnspecifiedMatching DOID:446 primary hyperaldosteronism oboInOwl:hasDbXref ORDO:235936 semapv:UnspecifiedMatching DOID:446 primary hyperaldosteronism oboInOwl:hasDbXref UMLS:C0010481 semapv:UnspecifiedMatching DOID:446 primary hyperaldosteronism oboInOwl:hasDbXref UMLS:C0020428 semapv:UnspecifiedMatching @@ -30786,10 +19896,8 @@ DOID:4465 papillary renal cell carcinoma oboInOwl:hasDbXref MESH:C538614 semapv: DOID:4465 papillary renal cell carcinoma oboInOwl:hasDbXref MESH:D002292 semapv:UnspecifiedMatching DOID:4465 papillary renal cell carcinoma oboInOwl:hasDbXref NCI:C27890 semapv:UnspecifiedMatching DOID:4465 papillary renal cell carcinoma oboInOwl:hasDbXref NCI:C6975 semapv:UnspecifiedMatching -DOID:4465 papillary renal cell carcinoma oboInOwl:hasDbXref OMIM:605074 semapv:UnspecifiedMatching DOID:4465 papillary renal cell carcinoma oboInOwl:hasDbXref UMLS:C1306837 semapv:UnspecifiedMatching DOID:4465 papillary renal cell carcinoma oboInOwl:hasDbXref UMLS:C1336078 semapv:UnspecifiedMatching -DOID:4465 papillary renal cell carcinoma skos:exactMatch OMIM:605074 semapv:UnspecifiedMatching DOID:4467 clear cell renal cell carcinoma oboInOwl:hasDbXref GARD:9574 semapv:UnspecifiedMatching DOID:4467 clear cell renal cell carcinoma oboInOwl:hasDbXref MESH:D002292 semapv:UnspecifiedMatching DOID:4467 clear cell renal cell carcinoma oboInOwl:hasDbXref NCI:C4033 semapv:UnspecifiedMatching @@ -30821,16 +19929,12 @@ DOID:4480 achondroplasia oboInOwl:hasDbXref GARD:8173 semapv:UnspecifiedMatching DOID:4480 achondroplasia oboInOwl:hasDbXref ICD10CM:Q77.4 semapv:UnspecifiedMatching DOID:4480 achondroplasia oboInOwl:hasDbXref MESH:D000130 semapv:UnspecifiedMatching DOID:4480 achondroplasia oboInOwl:hasDbXref NCI:C34345 semapv:UnspecifiedMatching -DOID:4480 achondroplasia oboInOwl:hasDbXref OMIM:100800 semapv:UnspecifiedMatching DOID:4480 achondroplasia oboInOwl:hasDbXref UMLS:C0001080 semapv:UnspecifiedMatching DOID:4480 achondroplasia skos:exactMatch MESH:D000130 semapv:UnspecifiedMatching -DOID:4480 achondroplasia skos:exactMatch OMIM:100800 semapv:UnspecifiedMatching DOID:4481 allergic rhinitis oboInOwl:hasDbXref EFO:0003956 semapv:UnspecifiedMatching DOID:4481 allergic rhinitis oboInOwl:hasDbXref NCI:C34987 semapv:UnspecifiedMatching -DOID:4481 allergic rhinitis oboInOwl:hasDbXref OMIM:607154 semapv:UnspecifiedMatching DOID:4481 allergic rhinitis oboInOwl:hasDbXref UMLS:C0002103 semapv:UnspecifiedMatching DOID:4481 allergic rhinitis skos:exactMatch MESH:D065631 semapv:UnspecifiedMatching -DOID:4481 allergic rhinitis skos:exactMatch OMIM:607154 semapv:UnspecifiedMatching DOID:4483 rhinitis oboInOwl:hasDbXref MESH:D012220 semapv:UnspecifiedMatching DOID:4483 rhinitis oboInOwl:hasDbXref NCI:C34986 semapv:UnspecifiedMatching DOID:4483 rhinitis oboInOwl:hasDbXref UMLS:C0035455 semapv:UnspecifiedMatching @@ -30878,9 +19982,7 @@ DOID:4517 skin angiosarcoma oboInOwl:hasDbXref UMLS:C0346081 semapv:UnspecifiedM DOID:452 pleomorphic adenoma oboInOwl:hasDbXref ICDO:8940/0 semapv:UnspecifiedMatching DOID:452 pleomorphic adenoma oboInOwl:hasDbXref MESH:D008949 semapv:UnspecifiedMatching DOID:452 pleomorphic adenoma oboInOwl:hasDbXref NCI:C35691 semapv:UnspecifiedMatching -DOID:452 pleomorphic adenoma oboInOwl:hasDbXref OMIM:181030 semapv:UnspecifiedMatching DOID:452 pleomorphic adenoma oboInOwl:hasDbXref UMLS:C0026277 semapv:UnspecifiedMatching -DOID:452 pleomorphic adenoma skos:exactMatch OMIM:181030 semapv:UnspecifiedMatching DOID:4520 cervical endometrial stromal sarcoma oboInOwl:hasDbXref NCI:C40220 semapv:UnspecifiedMatching DOID:4520 cervical endometrial stromal sarcoma oboInOwl:hasDbXref UMLS:C3642326 semapv:UnspecifiedMatching DOID:4521 cervix endometrial stromal tumor oboInOwl:hasDbXref NCI:C40218 semapv:UnspecifiedMatching @@ -30901,15 +20003,11 @@ DOID:4531 mucoepidermoid carcinoma oboInOwl:hasDbXref UMLS:C0206694 semapv:Unspe DOID:4534 Hallermann-Streiff syndrome oboInOwl:hasDbXref GARD:288 semapv:UnspecifiedMatching DOID:4534 Hallermann-Streiff syndrome oboInOwl:hasDbXref MESH:D006210 semapv:UnspecifiedMatching DOID:4534 Hallermann-Streiff syndrome oboInOwl:hasDbXref NCI:C84746 semapv:UnspecifiedMatching -DOID:4534 Hallermann-Streiff syndrome oboInOwl:hasDbXref OMIM:234100 semapv:UnspecifiedMatching DOID:4534 Hallermann-Streiff syndrome oboInOwl:hasDbXref ORDO:2108 semapv:UnspecifiedMatching DOID:4534 Hallermann-Streiff syndrome oboInOwl:hasDbXref UMLS:C0018522 semapv:UnspecifiedMatching -DOID:4534 Hallermann-Streiff syndrome skos:exactMatch OMIM:234100 semapv:UnspecifiedMatching DOID:4535 hypotrichosis oboInOwl:hasDbXref MESH:D007039 semapv:UnspecifiedMatching -DOID:4535 hypotrichosis oboInOwl:hasDbXref OMIMPS:605389 semapv:UnspecifiedMatching DOID:4535 hypotrichosis oboInOwl:hasDbXref ORDO:55654 semapv:UnspecifiedMatching DOID:4535 hypotrichosis oboInOwl:hasDbXref UMLS:C0020678 semapv:UnspecifiedMatching -DOID:4535 hypotrichosis skos:exactMatch OMIMPS:605389 semapv:UnspecifiedMatching DOID:4540 dysgraphia oboInOwl:hasDbXref ICD10CM:R48.8 semapv:UnspecifiedMatching DOID:4540 dysgraphia oboInOwl:hasDbXref MESH:D000381 semapv:UnspecifiedMatching DOID:4540 dysgraphia oboInOwl:hasDbXref UMLS:C0001825 semapv:UnspecifiedMatching @@ -30937,9 +20035,7 @@ DOID:4548 extraskeletal mesenchymal chondrosarcoma oboInOwl:hasDbXref UMLS:C1275 DOID:4549 extraskeletal myxoid chondrosarcoma oboInOwl:hasDbXref ICDO:9231/3 semapv:UnspecifiedMatching DOID:4549 extraskeletal myxoid chondrosarcoma oboInOwl:hasDbXref MESH:C563195 semapv:UnspecifiedMatching DOID:4549 extraskeletal myxoid chondrosarcoma oboInOwl:hasDbXref NCI:C27502 semapv:UnspecifiedMatching -DOID:4549 extraskeletal myxoid chondrosarcoma oboInOwl:hasDbXref OMIM:612237 semapv:UnspecifiedMatching DOID:4549 extraskeletal myxoid chondrosarcoma oboInOwl:hasDbXref UMLS:C1275278 semapv:UnspecifiedMatching -DOID:4549 extraskeletal myxoid chondrosarcoma skos:exactMatch OMIM:612237 semapv:UnspecifiedMatching DOID:4550 anal gland neoplasm oboInOwl:hasDbXref MESH:D000694 semapv:UnspecifiedMatching DOID:4550 anal gland neoplasm oboInOwl:hasDbXref UMLS:C0002757 semapv:UnspecifiedMatching DOID:4551 anus benign neoplasm oboInOwl:hasDbXref MESH:D001005 semapv:UnspecifiedMatching @@ -30994,9 +20090,7 @@ DOID:4594 microcystic meningioma oboInOwl:hasDbXref UMLS:C1384408 semapv:Unspeci DOID:4603 epidermolytic hyperkeratosis oboInOwl:hasDbXref ICD10CM:Q80.3 semapv:UnspecifiedMatching DOID:4603 epidermolytic hyperkeratosis oboInOwl:hasDbXref MESH:D017488 semapv:UnspecifiedMatching DOID:4603 epidermolytic hyperkeratosis oboInOwl:hasDbXref NCI:C62569 semapv:UnspecifiedMatching -DOID:4603 epidermolytic hyperkeratosis oboInOwl:hasDbXref OMIMPS:113800 semapv:UnspecifiedMatching DOID:4603 epidermolytic hyperkeratosis oboInOwl:hasDbXref UMLS:C0079153 semapv:UnspecifiedMatching -DOID:4603 epidermolytic hyperkeratosis skos:exactMatch OMIMPS:113800 semapv:UnspecifiedMatching DOID:4606 bile duct cancer oboInOwl:hasDbXref ICD10CM:C24.0 semapv:UnspecifiedMatching DOID:4606 bile duct cancer oboInOwl:hasDbXref ICD9CM:156.1 semapv:UnspecifiedMatching DOID:4606 bile duct cancer oboInOwl:hasDbXref MESH:D001650 semapv:UnspecifiedMatching @@ -31031,18 +20125,14 @@ DOID:4621 holoprosencephaly oboInOwl:hasDbXref GARD:6665 semapv:UnspecifiedMatch DOID:4621 holoprosencephaly oboInOwl:hasDbXref ICD10CM:Q04.2 semapv:UnspecifiedMatching DOID:4621 holoprosencephaly oboInOwl:hasDbXref MESH:D016142 semapv:UnspecifiedMatching DOID:4621 holoprosencephaly oboInOwl:hasDbXref NCI:C74988 semapv:UnspecifiedMatching -DOID:4621 holoprosencephaly oboInOwl:hasDbXref OMIMPS:236100 semapv:UnspecifiedMatching DOID:4621 holoprosencephaly oboInOwl:hasDbXref ORDO:2162 semapv:UnspecifiedMatching DOID:4621 holoprosencephaly oboInOwl:hasDbXref UMLS:C0079541 semapv:UnspecifiedMatching -DOID:4621 holoprosencephaly skos:exactMatch OMIMPS:236100 semapv:UnspecifiedMatching DOID:4624 Ollier disease oboInOwl:hasDbXref GARD:7251 semapv:UnspecifiedMatching DOID:4624 Ollier disease oboInOwl:hasDbXref ICD10CM:Q78.4 semapv:UnspecifiedMatching DOID:4624 Ollier disease oboInOwl:hasDbXref MESH:D004687 semapv:UnspecifiedMatching DOID:4624 Ollier disease oboInOwl:hasDbXref NCI:C3213 semapv:UnspecifiedMatching -DOID:4624 Ollier disease oboInOwl:hasDbXref OMIM:166000 semapv:UnspecifiedMatching DOID:4624 Ollier disease oboInOwl:hasDbXref ORDO:296 semapv:UnspecifiedMatching DOID:4624 Ollier disease oboInOwl:hasDbXref UMLS:C0024454 semapv:UnspecifiedMatching -DOID:4624 Ollier disease skos:exactMatch OMIM:166000 semapv:UnspecifiedMatching DOID:4626 hydranencephaly oboInOwl:hasDbXref GARD:6681 semapv:UnspecifiedMatching DOID:4626 hydranencephaly oboInOwl:hasDbXref ICD10CM:Q04.3 semapv:UnspecifiedMatching DOID:4626 hydranencephaly oboInOwl:hasDbXref MESH:D006832 semapv:UnspecifiedMatching @@ -31067,8 +20157,6 @@ DOID:4644 epidermolysis bullosa simplex oboInOwl:hasDbXref GARD:10752 semapv:Uns DOID:4644 epidermolysis bullosa simplex oboInOwl:hasDbXref ICD10CM:Q81.0 semapv:UnspecifiedMatching DOID:4644 epidermolysis bullosa simplex oboInOwl:hasDbXref MESH:D016110 semapv:UnspecifiedMatching DOID:4644 epidermolysis bullosa simplex oboInOwl:hasDbXref NCI:C84692 semapv:UnspecifiedMatching -DOID:4644 epidermolysis bullosa simplex oboInOwl:hasDbXref OMIM:601001 semapv:UnspecifiedMatching -DOID:4644 epidermolysis bullosa simplex oboInOwl:hasDbXref OMIM:615425 semapv:UnspecifiedMatching DOID:4644 epidermolysis bullosa simplex oboInOwl:hasDbXref ORDO:304 semapv:UnspecifiedMatching DOID:4644 epidermolysis bullosa simplex oboInOwl:hasDbXref UMLS:C0079298 semapv:UnspecifiedMatching DOID:4645 retinal cancer oboInOwl:hasDbXref ICD10CM:C69.2 semapv:UnspecifiedMatching @@ -31119,10 +20207,8 @@ DOID:4674 androgen insensitivity syndrome oboInOwl:hasDbXref ICD10CM:E34.5 semap DOID:4674 androgen insensitivity syndrome oboInOwl:hasDbXref ICD9CM:259.51 semapv:UnspecifiedMatching DOID:4674 androgen insensitivity syndrome oboInOwl:hasDbXref MESH:D013734 semapv:UnspecifiedMatching DOID:4674 androgen insensitivity syndrome oboInOwl:hasDbXref NCI:C27226 semapv:UnspecifiedMatching -DOID:4674 androgen insensitivity syndrome oboInOwl:hasDbXref OMIM:300068 semapv:UnspecifiedMatching DOID:4674 androgen insensitivity syndrome oboInOwl:hasDbXref ORDO:754 semapv:UnspecifiedMatching DOID:4674 androgen insensitivity syndrome oboInOwl:hasDbXref UMLS:C0039585 semapv:UnspecifiedMatching -DOID:4674 androgen insensitivity syndrome skos:exactMatch OMIM:300068 semapv:UnspecifiedMatching DOID:4674 androgen insensitivity syndrome skos:narrowMatch MESH:D013734 semapv:UnspecifiedMatching DOID:4675 uremic neuropathy oboInOwl:hasDbXref NCI:C27055 semapv:UnspecifiedMatching DOID:4675 uremic neuropathy oboInOwl:hasDbXref UMLS:C0268708 semapv:UnspecifiedMatching @@ -31260,9 +20346,6 @@ DOID:4749 middle cranial fossa meningioma oboInOwl:hasDbXref UMLS:C1334757 semap DOID:4751 striatonigral degeneration oboInOwl:hasDbXref ICD10CM:G23.2 semapv:UnspecifiedMatching DOID:4751 striatonigral degeneration oboInOwl:hasDbXref MESH:D020955 semapv:UnspecifiedMatching DOID:4751 striatonigral degeneration oboInOwl:hasDbXref NCI:C125695 semapv:UnspecifiedMatching -DOID:4751 striatonigral degeneration oboInOwl:hasDbXref OMIM:271930 semapv:UnspecifiedMatching -DOID:4751 striatonigral degeneration oboInOwl:hasDbXref OMIM:500003 semapv:UnspecifiedMatching -DOID:4751 striatonigral degeneration oboInOwl:hasDbXref OMIM:609161 semapv:UnspecifiedMatching DOID:4751 striatonigral degeneration oboInOwl:hasDbXref UMLS:C0270733 semapv:UnspecifiedMatching DOID:4752 multiple system atrophy oboInOwl:hasDbXref GARD:7079 semapv:UnspecifiedMatching DOID:4752 multiple system atrophy oboInOwl:hasDbXref MESH:D012791 semapv:UnspecifiedMatching @@ -31339,9 +20422,7 @@ DOID:4791 supratentorial primitive neuroectodermal tumor oboInOwl:hasDbXref NCI: DOID:4791 supratentorial primitive neuroectodermal tumor oboInOwl:hasDbXref UMLS:C1336538 semapv:UnspecifiedMatching DOID:4795 GM2 gangliosidosis, AB variant oboInOwl:hasDbXref MESH:D049290 semapv:UnspecifiedMatching DOID:4795 GM2 gangliosidosis, AB variant oboInOwl:hasDbXref NCI:C133084 semapv:UnspecifiedMatching -DOID:4795 GM2 gangliosidosis, AB variant oboInOwl:hasDbXref OMIM:272750 semapv:UnspecifiedMatching DOID:4795 GM2 gangliosidosis, AB variant oboInOwl:hasDbXref UMLS:C0268275 semapv:UnspecifiedMatching -DOID:4795 GM2 gangliosidosis, AB variant skos:exactMatch OMIM:272750 semapv:UnspecifiedMatching DOID:4796 space motion sickness oboInOwl:hasDbXref MESH:D018489 semapv:UnspecifiedMatching DOID:4796 space motion sickness oboInOwl:hasDbXref UMLS:C0242700 semapv:UnspecifiedMatching DOID:4797 SM-AHNMD oboInOwl:hasDbXref NCI:C9284 semapv:UnspecifiedMatching @@ -31361,10 +20442,8 @@ DOID:481 obsolete central nervous system hereditary degenerative disease oboInOw DOID:4810 cerebrotendinous xanthomatosis oboInOwl:hasDbXref GARD:5622 semapv:UnspecifiedMatching DOID:4810 cerebrotendinous xanthomatosis oboInOwl:hasDbXref MESH:D019294 semapv:UnspecifiedMatching DOID:4810 cerebrotendinous xanthomatosis oboInOwl:hasDbXref NCI:C84628 semapv:UnspecifiedMatching -DOID:4810 cerebrotendinous xanthomatosis oboInOwl:hasDbXref OMIM:213700 semapv:UnspecifiedMatching DOID:4810 cerebrotendinous xanthomatosis oboInOwl:hasDbXref ORDO:909 semapv:UnspecifiedMatching DOID:4810 cerebrotendinous xanthomatosis oboInOwl:hasDbXref UMLS:C0238052 semapv:UnspecifiedMatching -DOID:4810 cerebrotendinous xanthomatosis skos:exactMatch OMIM:213700 semapv:UnspecifiedMatching DOID:4812 adult brainstem gliosarcoma oboInOwl:hasDbXref NCI:C9370 semapv:UnspecifiedMatching DOID:4812 adult brainstem gliosarcoma oboInOwl:hasDbXref UMLS:C1377914 semapv:UnspecifiedMatching DOID:4813 adult brain stem glioma oboInOwl:hasDbXref NCI:C9091 semapv:UnspecifiedMatching @@ -31485,11 +20564,9 @@ DOID:4889 lymph node tuberculosis oboInOwl:hasDbXref UMLS:C0242830 semapv:Unspec DOID:4890 juvenile myoclonic epilepsy oboInOwl:hasDbXref GARD:6808 semapv:UnspecifiedMatching DOID:4890 juvenile myoclonic epilepsy oboInOwl:hasDbXref MESH:D020190 semapv:UnspecifiedMatching DOID:4890 juvenile myoclonic epilepsy oboInOwl:hasDbXref NCI:C84796 semapv:UnspecifiedMatching -DOID:4890 juvenile myoclonic epilepsy oboInOwl:hasDbXref OMIM:254770 semapv:UnspecifiedMatching DOID:4890 juvenile myoclonic epilepsy oboInOwl:hasDbXref ORDO:307 semapv:UnspecifiedMatching DOID:4890 juvenile myoclonic epilepsy oboInOwl:hasDbXref ORDO:862 semapv:UnspecifiedMatching DOID:4890 juvenile myoclonic epilepsy oboInOwl:hasDbXref UMLS:C0270853 semapv:UnspecifiedMatching -DOID:4890 juvenile myoclonic epilepsy skos:exactMatch OMIM:254770 semapv:UnspecifiedMatching DOID:4892 middle ear adenocarcinoma oboInOwl:hasDbXref NCI:C6848 semapv:UnspecifiedMatching DOID:4892 middle ear adenocarcinoma oboInOwl:hasDbXref UMLS:C1334758 semapv:UnspecifiedMatching DOID:4893 middle ear carcinoma oboInOwl:hasDbXref NCI:C6089 semapv:UnspecifiedMatching @@ -31514,9 +20591,7 @@ DOID:4903 granular cell carcinoma oboInOwl:hasDbXref UMLS:C0205644 semapv:Unspec DOID:4905 pancreatic carcinoma oboInOwl:hasDbXref EFO:0002618 semapv:UnspecifiedMatching DOID:4905 pancreatic carcinoma oboInOwl:hasDbXref MESH:C562463 semapv:UnspecifiedMatching DOID:4905 pancreatic carcinoma oboInOwl:hasDbXref NCI:C3850 semapv:UnspecifiedMatching -DOID:4905 pancreatic carcinoma oboInOwl:hasDbXref OMIM:260350 semapv:UnspecifiedMatching DOID:4905 pancreatic carcinoma oboInOwl:hasDbXref UMLS:C0235974 semapv:UnspecifiedMatching -DOID:4905 pancreatic carcinoma skos:exactMatch OMIM:260350 semapv:UnspecifiedMatching DOID:4906 small intestine adenocarcinoma oboInOwl:hasDbXref GARD:13090 semapv:UnspecifiedMatching DOID:4906 small intestine adenocarcinoma oboInOwl:hasDbXref NCI:C7888 semapv:UnspecifiedMatching DOID:4906 small intestine adenocarcinoma oboInOwl:hasDbXref UMLS:C0278803 semapv:UnspecifiedMatching @@ -31672,10 +20747,8 @@ DOID:4971 myelofibrosis oboInOwl:hasDbXref ICD9CM:289.83 semapv:UnspecifiedMatch DOID:4971 myelofibrosis oboInOwl:hasDbXref MESH:D055728 semapv:UnspecifiedMatching DOID:4971 myelofibrosis oboInOwl:hasDbXref NCI:C2862 semapv:UnspecifiedMatching DOID:4971 myelofibrosis oboInOwl:hasDbXref NCI:C3248 semapv:UnspecifiedMatching -DOID:4971 myelofibrosis oboInOwl:hasDbXref OMIM:254450 semapv:UnspecifiedMatching DOID:4971 myelofibrosis oboInOwl:hasDbXref UMLS:C0001815 semapv:UnspecifiedMatching DOID:4971 myelofibrosis oboInOwl:hasDbXref UMLS:C0026987 semapv:UnspecifiedMatching -DOID:4971 myelofibrosis skos:exactMatch OMIM:254450 semapv:UnspecifiedMatching DOID:4972 myelodysplastic/myeloproliferative neoplasm oboInOwl:hasDbXref MESH:D054437 semapv:UnspecifiedMatching DOID:4972 myelodysplastic/myeloproliferative neoplasm oboInOwl:hasDbXref NCI:C27262 semapv:UnspecifiedMatching DOID:4972 myelodysplastic/myeloproliferative neoplasm oboInOwl:hasDbXref UMLS:C1301355 semapv:UnspecifiedMatching @@ -31699,17 +20772,13 @@ DOID:4989 pancreatitis oboInOwl:hasDbXref EFO:0000278 semapv:UnspecifiedMatching DOID:4989 pancreatitis oboInOwl:hasDbXref ICD10CM:K85.9 semapv:UnspecifiedMatching DOID:4989 pancreatitis oboInOwl:hasDbXref MESH:D010195 semapv:UnspecifiedMatching DOID:4989 pancreatitis oboInOwl:hasDbXref NCI:C3306 semapv:UnspecifiedMatching -DOID:4989 pancreatitis oboInOwl:hasDbXref OMIM:167800 semapv:UnspecifiedMatching DOID:4989 pancreatitis oboInOwl:hasDbXref UMLS:C0030305 semapv:UnspecifiedMatching -DOID:4989 pancreatitis skos:exactMatch OMIM:167800 semapv:UnspecifiedMatching DOID:4990 essential tremor oboInOwl:hasDbXref GARD:5910 semapv:UnspecifiedMatching DOID:4990 essential tremor oboInOwl:hasDbXref ICD10CM:G25.0 semapv:UnspecifiedMatching DOID:4990 essential tremor oboInOwl:hasDbXref MESH:D020329 semapv:UnspecifiedMatching DOID:4990 essential tremor oboInOwl:hasDbXref NCI:C182453 semapv:UnspecifiedMatching -DOID:4990 essential tremor oboInOwl:hasDbXref OMIMPS:190300 semapv:UnspecifiedMatching DOID:4990 essential tremor oboInOwl:hasDbXref ORDO:862 semapv:UnspecifiedMatching DOID:4990 essential tremor oboInOwl:hasDbXref UMLS:C0270736 semapv:UnspecifiedMatching -DOID:4990 essential tremor skos:exactMatch OMIMPS:190300 semapv:UnspecifiedMatching DOID:4991 optic nerve astrocytoma oboInOwl:hasDbXref NCI:C6769 semapv:UnspecifiedMatching DOID:4991 optic nerve astrocytoma oboInOwl:hasDbXref NCI:C7533 semapv:UnspecifiedMatching DOID:4991 optic nerve astrocytoma oboInOwl:hasDbXref UMLS:C1335114 semapv:UnspecifiedMatching @@ -31728,16 +20797,12 @@ DOID:4997 Camurati-Engelmann disease oboInOwl:hasDbXref GARD:1072 semapv:Unspeci DOID:4997 Camurati-Engelmann disease oboInOwl:hasDbXref ICD10CM:Q78.3 semapv:UnspecifiedMatching DOID:4997 Camurati-Engelmann disease oboInOwl:hasDbXref MESH:D003966 semapv:UnspecifiedMatching DOID:4997 Camurati-Engelmann disease oboInOwl:hasDbXref NCI:C84610 semapv:UnspecifiedMatching -DOID:4997 Camurati-Engelmann disease oboInOwl:hasDbXref OMIM:131300 semapv:UnspecifiedMatching -DOID:4997 Camurati-Engelmann disease oboInOwl:hasDbXref OMIM:606631 semapv:UnspecifiedMatching DOID:4997 Camurati-Engelmann disease oboInOwl:hasDbXref UMLS:C0011989 semapv:UnspecifiedMatching DOID:4998 trichorhinophalangeal syndrome type II oboInOwl:hasDbXref GARD:7801 semapv:UnspecifiedMatching DOID:4998 trichorhinophalangeal syndrome type II oboInOwl:hasDbXref MESH:D015826 semapv:UnspecifiedMatching DOID:4998 trichorhinophalangeal syndrome type II oboInOwl:hasDbXref NCI:C75118 semapv:UnspecifiedMatching -DOID:4998 trichorhinophalangeal syndrome type II oboInOwl:hasDbXref OMIM:150230 semapv:UnspecifiedMatching DOID:4998 trichorhinophalangeal syndrome type II oboInOwl:hasDbXref ORDO:502 semapv:UnspecifiedMatching DOID:4998 trichorhinophalangeal syndrome type II oboInOwl:hasDbXref UMLS:C0023003 semapv:UnspecifiedMatching -DOID:4998 trichorhinophalangeal syndrome type II skos:exactMatch OMIM:150230 semapv:UnspecifiedMatching DOID:50 thyroid gland disease oboInOwl:hasDbXref ICD10CM:E07.9 semapv:UnspecifiedMatching DOID:50 thyroid gland disease oboInOwl:hasDbXref ICD9CM:246.9 semapv:UnspecifiedMatching DOID:50 thyroid gland disease oboInOwl:hasDbXref MESH:D013959 semapv:UnspecifiedMatching @@ -31792,14 +20857,12 @@ DOID:5041 esophageal cancer oboInOwl:hasDbXref NCI:C3533 semapv:UnspecifiedMatch DOID:5041 esophageal cancer oboInOwl:hasDbXref NCI:C3534 semapv:UnspecifiedMatching DOID:5041 esophageal cancer oboInOwl:hasDbXref NCI:C3535 semapv:UnspecifiedMatching DOID:5041 esophageal cancer oboInOwl:hasDbXref NCI:C4764 semapv:UnspecifiedMatching -DOID:5041 esophageal cancer oboInOwl:hasDbXref OMIM:133239 semapv:UnspecifiedMatching DOID:5041 esophageal cancer oboInOwl:hasDbXref UMLS:C0014859 semapv:UnspecifiedMatching DOID:5041 esophageal cancer oboInOwl:hasDbXref UMLS:C0153413 semapv:UnspecifiedMatching DOID:5041 esophageal cancer oboInOwl:hasDbXref UMLS:C0153414 semapv:UnspecifiedMatching DOID:5041 esophageal cancer oboInOwl:hasDbXref UMLS:C0153415 semapv:UnspecifiedMatching DOID:5041 esophageal cancer oboInOwl:hasDbXref UMLS:C0153416 semapv:UnspecifiedMatching DOID:5041 esophageal cancer oboInOwl:hasDbXref UMLS:C0496775 semapv:UnspecifiedMatching -DOID:5041 esophageal cancer skos:exactMatch OMIM:133239 semapv:UnspecifiedMatching DOID:5042 malignant granular cell myoblastoma oboInOwl:hasDbXref NCI:C4336 semapv:UnspecifiedMatching DOID:5042 malignant granular cell myoblastoma oboInOwl:hasDbXref UMLS:C0334618 semapv:UnspecifiedMatching DOID:5043 vulvar granular cell tumor oboInOwl:hasDbXref NCI:C40328 semapv:UnspecifiedMatching @@ -31897,9 +20960,7 @@ DOID:5113 nutritional deficiency disease oboInOwl:hasDbXref MESH:D003677 semapv: DOID:5113 nutritional deficiency disease oboInOwl:hasDbXref UMLS:C0011156 semapv:UnspecifiedMatching DOID:5117 dermoid cyst of ovary oboInOwl:hasDbXref MESH:C562731 semapv:UnspecifiedMatching DOID:5117 dermoid cyst of ovary oboInOwl:hasDbXref NCI:C3856 semapv:UnspecifiedMatching -DOID:5117 dermoid cyst of ovary oboInOwl:hasDbXref OMIM:166950 semapv:UnspecifiedMatching DOID:5117 dermoid cyst of ovary oboInOwl:hasDbXref UMLS:C0237020 semapv:UnspecifiedMatching -DOID:5117 dermoid cyst of ovary skos:exactMatch OMIM:166950 semapv:UnspecifiedMatching DOID:5118 ovarian cystic teratoma oboInOwl:hasDbXref NCI:C7283 semapv:UnspecifiedMatching DOID:5118 ovarian cystic teratoma oboInOwl:hasDbXref UMLS:C1335155 semapv:UnspecifiedMatching DOID:5119 ovarian cyst oboInOwl:hasDbXref ICD10CM:N83.2 semapv:UnspecifiedMatching @@ -32039,9 +21100,7 @@ DOID:5204 fructose-1,6-bisphosphatase deficiency oboInOwl:hasDbXref GARD:2400 se DOID:5204 fructose-1,6-bisphosphatase deficiency oboInOwl:hasDbXref ICD10CM:E74.19 semapv:UnspecifiedMatching DOID:5204 fructose-1,6-bisphosphatase deficiency oboInOwl:hasDbXref MESH:D015319 semapv:UnspecifiedMatching DOID:5204 fructose-1,6-bisphosphatase deficiency oboInOwl:hasDbXref NCI:C128119 semapv:UnspecifiedMatching -DOID:5204 fructose-1,6-bisphosphatase deficiency oboInOwl:hasDbXref OMIM:229700 semapv:UnspecifiedMatching DOID:5204 fructose-1,6-bisphosphatase deficiency oboInOwl:hasDbXref UMLS:C0016756 semapv:UnspecifiedMatching -DOID:5204 fructose-1,6-bisphosphatase deficiency skos:exactMatch OMIM:229700 semapv:UnspecifiedMatching DOID:5207 monodermal teratoma oboInOwl:hasDbXref NCI:C7286 semapv:UnspecifiedMatching DOID:5207 monodermal teratoma oboInOwl:hasDbXref UMLS:C1302569 semapv:UnspecifiedMatching DOID:5208 malignant struma ovarii oboInOwl:hasDbXref NCI:C4291 semapv:UnspecifiedMatching @@ -32217,10 +21276,8 @@ DOID:5324 fallopian tube germ cell cancer oboInOwl:hasDbXref UMLS:C1517114 semap DOID:5325 Roberts syndrome oboInOwl:hasDbXref GARD:7387 semapv:UnspecifiedMatching DOID:5325 Roberts syndrome oboInOwl:hasDbXref MESH:C535687 semapv:UnspecifiedMatching DOID:5325 Roberts syndrome oboInOwl:hasDbXref NCI:C4681 semapv:UnspecifiedMatching -DOID:5325 Roberts syndrome oboInOwl:hasDbXref OMIM:268300 semapv:UnspecifiedMatching DOID:5325 Roberts syndrome oboInOwl:hasDbXref ORDO:3103 semapv:UnspecifiedMatching DOID:5325 Roberts syndrome oboInOwl:hasDbXref UMLS:C0392475 semapv:UnspecifiedMatching -DOID:5325 Roberts syndrome skos:exactMatch OMIM:268300 semapv:UnspecifiedMatching DOID:5327 retinal detachment oboInOwl:hasDbXref ICD10CM:H33.2 semapv:UnspecifiedMatching DOID:5327 retinal detachment oboInOwl:hasDbXref ICD9CM:361.9 semapv:UnspecifiedMatching DOID:5327 retinal detachment oboInOwl:hasDbXref MESH:D012163 semapv:UnspecifiedMatching @@ -32248,9 +21305,7 @@ DOID:5339 cyclic hematopoiesis oboInOwl:hasDbXref ICD10CM:D70.4 semapv:Unspecifi DOID:5339 cyclic hematopoiesis oboInOwl:hasDbXref ICD9CM:288.02 semapv:UnspecifiedMatching DOID:5339 cyclic hematopoiesis oboInOwl:hasDbXref MESH:C536227 semapv:UnspecifiedMatching DOID:5339 cyclic hematopoiesis oboInOwl:hasDbXref NCI:C3820 semapv:UnspecifiedMatching -DOID:5339 cyclic hematopoiesis oboInOwl:hasDbXref OMIM:162800 semapv:UnspecifiedMatching DOID:5339 cyclic hematopoiesis oboInOwl:hasDbXref UMLS:C0221023 semapv:UnspecifiedMatching -DOID:5339 cyclic hematopoiesis skos:exactMatch OMIM:162800 semapv:UnspecifiedMatching DOID:5340 anterograde amnesia oboInOwl:hasDbXref ICD10CM:R41.1 semapv:UnspecifiedMatching DOID:5340 anterograde amnesia oboInOwl:hasDbXref MESH:D020324 semapv:UnspecifiedMatching DOID:5340 anterograde amnesia oboInOwl:hasDbXref UMLS:C0233795 semapv:UnspecifiedMatching @@ -32281,16 +21336,12 @@ DOID:5353 colonic disease oboInOwl:hasDbXref MESH:D003108 semapv:UnspecifiedMatc DOID:5353 colonic disease oboInOwl:hasDbXref UMLS:C0009373 semapv:UnspecifiedMatching DOID:5362 focal epithelial hyperplasia oboInOwl:hasDbXref MESH:D017573 semapv:UnspecifiedMatching DOID:5362 focal epithelial hyperplasia oboInOwl:hasDbXref NCI:C97083 semapv:UnspecifiedMatching -DOID:5362 focal epithelial hyperplasia oboInOwl:hasDbXref OMIM:229045 semapv:UnspecifiedMatching DOID:5362 focal epithelial hyperplasia oboInOwl:hasDbXref UMLS:C0206067 semapv:UnspecifiedMatching -DOID:5362 focal epithelial hyperplasia skos:exactMatch OMIM:229045 semapv:UnspecifiedMatching DOID:5363 myxoid liposarcoma oboInOwl:hasDbXref GARD:7157 semapv:UnspecifiedMatching DOID:5363 myxoid liposarcoma oboInOwl:hasDbXref ICDO:8852/3 semapv:UnspecifiedMatching DOID:5363 myxoid liposarcoma oboInOwl:hasDbXref MESH:D018208 semapv:UnspecifiedMatching -DOID:5363 myxoid liposarcoma oboInOwl:hasDbXref OMIM:613488 semapv:UnspecifiedMatching DOID:5363 myxoid liposarcoma oboInOwl:hasDbXref ORDO:99967 semapv:UnspecifiedMatching DOID:5363 myxoid liposarcoma oboInOwl:hasDbXref UMLS:C0206634 semapv:UnspecifiedMatching -DOID:5363 myxoid liposarcoma skos:exactMatch OMIM:613488 semapv:UnspecifiedMatching DOID:5364 pulmonary coin lesion oboInOwl:hasDbXref ICD10CM:R91.1 semapv:UnspecifiedMatching DOID:5364 pulmonary coin lesion oboInOwl:hasDbXref MESH:D003074 semapv:UnspecifiedMatching DOID:5364 pulmonary coin lesion oboInOwl:hasDbXref UMLS:C0009250 semapv:UnspecifiedMatching @@ -32303,10 +21354,8 @@ DOID:5373 retroperitoneal hemangiopericytoma oboInOwl:hasDbXref UMLS:C1335777 se DOID:5374 pilomatrixoma oboInOwl:hasDbXref GARD:9452 semapv:UnspecifiedMatching DOID:5374 pilomatrixoma oboInOwl:hasDbXref MESH:D018296 semapv:UnspecifiedMatching DOID:5374 pilomatrixoma oboInOwl:hasDbXref NCI:C7368 semapv:UnspecifiedMatching -DOID:5374 pilomatrixoma oboInOwl:hasDbXref OMIM:132600 semapv:UnspecifiedMatching DOID:5374 pilomatrixoma oboInOwl:hasDbXref UMLS:C0206711 semapv:UnspecifiedMatching DOID:5374 pilomatrixoma skos:exactMatch MESH:D018296 semapv:UnspecifiedMatching -DOID:5374 pilomatrixoma skos:exactMatch OMIM:132600 semapv:UnspecifiedMatching DOID:5375 hair follicle neoplasm oboInOwl:hasDbXref NCI:C7367 semapv:UnspecifiedMatching DOID:5375 hair follicle neoplasm oboInOwl:hasDbXref UMLS:C0859920 semapv:UnspecifiedMatching DOID:5376 skin pilomatrix carcinoma oboInOwl:hasDbXref NCI:C4114 semapv:UnspecifiedMatching @@ -32387,16 +21436,12 @@ DOID:5408 Paget's disease of bone oboInOwl:hasDbXref GARD:8615 semapv:Unspecifie DOID:5408 Paget's disease of bone oboInOwl:hasDbXref ICD10CM:M88 semapv:UnspecifiedMatching DOID:5408 Paget's disease of bone oboInOwl:hasDbXref MESH:D010001 semapv:UnspecifiedMatching DOID:5408 Paget's disease of bone oboInOwl:hasDbXref NCI:C3292 semapv:UnspecifiedMatching -DOID:5408 Paget's disease of bone oboInOwl:hasDbXref OMIMPS:167250 semapv:UnspecifiedMatching DOID:5408 Paget's disease of bone oboInOwl:hasDbXref ORDO:280110 semapv:UnspecifiedMatching DOID:5408 Paget's disease of bone oboInOwl:hasDbXref UMLS:C0029401 semapv:UnspecifiedMatching -DOID:5408 Paget's disease of bone skos:exactMatch OMIMPS:167250 semapv:UnspecifiedMatching DOID:5409 lung small cell carcinoma oboInOwl:hasDbXref KEGG:05222 semapv:UnspecifiedMatching DOID:5409 lung small cell carcinoma oboInOwl:hasDbXref MESH:D055752 semapv:UnspecifiedMatching DOID:5409 lung small cell carcinoma oboInOwl:hasDbXref NCI:C4917 semapv:UnspecifiedMatching -DOID:5409 lung small cell carcinoma oboInOwl:hasDbXref OMIM:182280 semapv:UnspecifiedMatching DOID:5409 lung small cell carcinoma oboInOwl:hasDbXref UMLS:C0149925 semapv:UnspecifiedMatching -DOID:5409 lung small cell carcinoma skos:exactMatch OMIM:182280 semapv:UnspecifiedMatching DOID:5410 pulmonary neuroendocrine tumor oboInOwl:hasDbXref NCI:C5670 semapv:UnspecifiedMatching DOID:5410 pulmonary neuroendocrine tumor oboInOwl:hasDbXref UMLS:C1334452 semapv:UnspecifiedMatching DOID:5411 lung oat cell carcinoma oboInOwl:hasDbXref MESH:D018288 semapv:UnspecifiedMatching @@ -32413,22 +21458,16 @@ DOID:5419 schizophrenia oboInOwl:hasDbXref ICD10CM:F20 semapv:UnspecifiedMatchin DOID:5419 schizophrenia oboInOwl:hasDbXref ICD9CM:295 semapv:UnspecifiedMatching DOID:5419 schizophrenia oboInOwl:hasDbXref MESH:D012559 semapv:UnspecifiedMatching DOID:5419 schizophrenia oboInOwl:hasDbXref NCI:C3362 semapv:UnspecifiedMatching -DOID:5419 schizophrenia oboInOwl:hasDbXref OMIM:181500 semapv:UnspecifiedMatching DOID:5419 schizophrenia oboInOwl:hasDbXref UMLS:C0036341 semapv:UnspecifiedMatching -DOID:5419 schizophrenia skos:exactMatch OMIM:181500 semapv:UnspecifiedMatching DOID:5421 lung combined type small cell carcinoma oboInOwl:hasDbXref NCI:C9137 semapv:UnspecifiedMatching DOID:5421 lung combined type small cell carcinoma oboInOwl:hasDbXref UMLS:C1333125 semapv:UnspecifiedMatching DOID:5425 ovarian hyperstimulation syndrome oboInOwl:hasDbXref MESH:D016471 semapv:UnspecifiedMatching -DOID:5425 ovarian hyperstimulation syndrome oboInOwl:hasDbXref OMIM:608115 semapv:UnspecifiedMatching DOID:5425 ovarian hyperstimulation syndrome oboInOwl:hasDbXref UMLS:C0085083 semapv:UnspecifiedMatching -DOID:5425 ovarian hyperstimulation syndrome skos:exactMatch OMIM:608115 semapv:UnspecifiedMatching DOID:5426 primary ovarian insufficiency oboInOwl:hasDbXref ICD10CM:E28.3 semapv:UnspecifiedMatching DOID:5426 primary ovarian insufficiency oboInOwl:hasDbXref MESH:D016649 semapv:UnspecifiedMatching DOID:5426 primary ovarian insufficiency oboInOwl:hasDbXref NCI:C113352 semapv:UnspecifiedMatching -DOID:5426 primary ovarian insufficiency oboInOwl:hasDbXref OMIMPS:311360 semapv:UnspecifiedMatching DOID:5426 primary ovarian insufficiency oboInOwl:hasDbXref ORDO:619 semapv:UnspecifiedMatching DOID:5426 primary ovarian insufficiency oboInOwl:hasDbXref UMLS:C0085215 semapv:UnspecifiedMatching -DOID:5426 primary ovarian insufficiency skos:exactMatch OMIMPS:311360 semapv:UnspecifiedMatching DOID:5427 urinary bladder villous adenoma oboInOwl:hasDbXref NCI:C7414 semapv:UnspecifiedMatching DOID:5427 urinary bladder villous adenoma oboInOwl:hasDbXref UMLS:C1336893 semapv:UnspecifiedMatching DOID:5429 bladder flat intraepithelial lesion oboInOwl:hasDbXref NCI:C37266 semapv:UnspecifiedMatching @@ -32437,11 +21476,9 @@ DOID:543 dystonia oboInOwl:hasDbXref ICD10CM:G24 semapv:UnspecifiedMatching DOID:543 dystonia oboInOwl:hasDbXref MESH:D004421 semapv:UnspecifiedMatching DOID:543 dystonia oboInOwl:hasDbXref MESH:D020821 semapv:UnspecifiedMatching DOID:543 dystonia oboInOwl:hasDbXref NCI:C34563 semapv:UnspecifiedMatching -DOID:543 dystonia oboInOwl:hasDbXref OMIMPS:128100 semapv:UnspecifiedMatching DOID:543 dystonia oboInOwl:hasDbXref UMLS:C0013421 semapv:UnspecifiedMatching DOID:543 dystonia oboInOwl:hasDbXref UMLS:C0393593 semapv:UnspecifiedMatching DOID:543 dystonia skos:exactMatch MESH:D004421 semapv:UnspecifiedMatching -DOID:543 dystonia skos:exactMatch OMIMPS:128100 semapv:UnspecifiedMatching DOID:5432 bladder papillary transitional cell neoplasm oboInOwl:hasDbXref NCI:C39857 semapv:UnspecifiedMatching DOID:5432 bladder papillary transitional cell neoplasm oboInOwl:hasDbXref UMLS:C1511197 semapv:UnspecifiedMatching DOID:5433 urinary tract papillary transitional cell benign neoplasm oboInOwl:hasDbXref NCI:C27883 semapv:UnspecifiedMatching @@ -32480,10 +21517,8 @@ DOID:5446 eccrine papillary adenoma oboInOwl:hasDbXref UMLS:C0334350 semapv:Unsp DOID:5453 pulmonary venoocclusive disease oboInOwl:hasDbXref GARD:10153 semapv:UnspecifiedMatching DOID:5453 pulmonary venoocclusive disease oboInOwl:hasDbXref MESH:D011668 semapv:UnspecifiedMatching DOID:5453 pulmonary venoocclusive disease oboInOwl:hasDbXref NCI:C85039 semapv:UnspecifiedMatching -DOID:5453 pulmonary venoocclusive disease oboInOwl:hasDbXref OMIMPS:265450 semapv:UnspecifiedMatching DOID:5453 pulmonary venoocclusive disease oboInOwl:hasDbXref ORDO:31837 semapv:UnspecifiedMatching DOID:5453 pulmonary venoocclusive disease oboInOwl:hasDbXref UMLS:C0034091 semapv:UnspecifiedMatching -DOID:5453 pulmonary venoocclusive disease skos:exactMatch OMIMPS:265450 semapv:UnspecifiedMatching DOID:5457 laryngeal neuroendocrine tumor oboInOwl:hasDbXref NCI:C6023 semapv:UnspecifiedMatching DOID:5457 laryngeal neuroendocrine tumor oboInOwl:hasDbXref UMLS:C1334374 semapv:UnspecifiedMatching DOID:5463 cochlear disease oboInOwl:hasDbXref MESH:D015834 semapv:UnspecifiedMatching @@ -32524,9 +21559,7 @@ DOID:5485 synovial sarcoma oboInOwl:hasDbXref GARD:7721 semapv:UnspecifiedMatchi DOID:5485 synovial sarcoma oboInOwl:hasDbXref ICDO:9040/3 semapv:UnspecifiedMatching DOID:5485 synovial sarcoma oboInOwl:hasDbXref MESH:D013584 semapv:UnspecifiedMatching DOID:5485 synovial sarcoma oboInOwl:hasDbXref NCI:C3400 semapv:UnspecifiedMatching -DOID:5485 synovial sarcoma oboInOwl:hasDbXref OMIM:300813 semapv:UnspecifiedMatching DOID:5485 synovial sarcoma oboInOwl:hasDbXref UMLS:C0039101 semapv:UnspecifiedMatching -DOID:5485 synovial sarcoma skos:exactMatch OMIM:300813 semapv:UnspecifiedMatching DOID:5487 spindle cell synovial sarcoma oboInOwl:hasDbXref NCI:C4277 semapv:UnspecifiedMatching DOID:5487 spindle cell synovial sarcoma oboInOwl:hasDbXref UMLS:C0334505 semapv:UnspecifiedMatching DOID:5488 mediastinum synovial sarcoma oboInOwl:hasDbXref NCI:C6618 semapv:UnspecifiedMatching @@ -32591,9 +21624,7 @@ DOID:552 pneumonia oboInOwl:hasDbXref UMLS:C0032285 semapv:UnspecifiedMatching DOID:5520 head and neck squamous cell carcinoma oboInOwl:hasDbXref GARD:8503 semapv:UnspecifiedMatching DOID:5520 head and neck squamous cell carcinoma oboInOwl:hasDbXref MESH:D000077195 semapv:UnspecifiedMatching DOID:5520 head and neck squamous cell carcinoma oboInOwl:hasDbXref NCI:C34447 semapv:UnspecifiedMatching -DOID:5520 head and neck squamous cell carcinoma oboInOwl:hasDbXref OMIM:275355 semapv:UnspecifiedMatching DOID:5520 head and neck squamous cell carcinoma oboInOwl:hasDbXref UMLS:C1168401 semapv:UnspecifiedMatching -DOID:5520 head and neck squamous cell carcinoma skos:exactMatch OMIM:275355 semapv:UnspecifiedMatching DOID:5521 keratinizing squamous cell carcinoma oboInOwl:hasDbXref NCI:C4105 semapv:UnspecifiedMatching DOID:5521 keratinizing squamous cell carcinoma oboInOwl:hasDbXref UMLS:C0334247 semapv:UnspecifiedMatching DOID:5522 basaloid squamous cell carcinoma oboInOwl:hasDbXref ICDO:8083/3 semapv:UnspecifiedMatching @@ -32648,8 +21679,6 @@ DOID:5556 testicular malignant germ cell cancer oboInOwl:hasDbXref NCI:C9063 sem DOID:5556 testicular malignant germ cell cancer oboInOwl:hasDbXref UMLS:C0855197 semapv:UnspecifiedMatching DOID:5557 testicular germ cell cancer oboInOwl:hasDbXref MESH:C563236 semapv:UnspecifiedMatching DOID:5557 testicular germ cell cancer oboInOwl:hasDbXref NCI:C8591 semapv:UnspecifiedMatching -DOID:5557 testicular germ cell cancer oboInOwl:hasDbXref OMIM:273300 semapv:UnspecifiedMatching -DOID:5557 testicular germ cell cancer oboInOwl:hasDbXref OMIM:300228 semapv:UnspecifiedMatching DOID:5557 testicular germ cell cancer oboInOwl:hasDbXref ORDO:3636504 semapv:UnspecifiedMatching DOID:5557 testicular germ cell cancer oboInOwl:hasDbXref UMLS:C1336708 semapv:UnspecifiedMatching DOID:5559 mediastinal cancer oboInOwl:hasDbXref ICD10CM:C38.3 semapv:UnspecifiedMatching @@ -32691,11 +21720,9 @@ DOID:5572 Beckwith-Wiedemann syndrome oboInOwl:hasDbXref GARD:3343 semapv:Unspec DOID:5572 Beckwith-Wiedemann syndrome oboInOwl:hasDbXref ICD10CM:Q87.3 semapv:UnspecifiedMatching DOID:5572 Beckwith-Wiedemann syndrome oboInOwl:hasDbXref MESH:D001506 semapv:UnspecifiedMatching DOID:5572 Beckwith-Wiedemann syndrome oboInOwl:hasDbXref NCI:C34415 semapv:UnspecifiedMatching -DOID:5572 Beckwith-Wiedemann syndrome oboInOwl:hasDbXref OMIM:130650 semapv:UnspecifiedMatching DOID:5572 Beckwith-Wiedemann syndrome oboInOwl:hasDbXref ORDO:116 semapv:UnspecifiedMatching DOID:5572 Beckwith-Wiedemann syndrome oboInOwl:hasDbXref UMLS:C0004903 semapv:UnspecifiedMatching DOID:5572 Beckwith-Wiedemann syndrome skos:exactMatch MESH:D001506 semapv:UnspecifiedMatching -DOID:5572 Beckwith-Wiedemann syndrome skos:exactMatch OMIM:130650 semapv:UnspecifiedMatching DOID:5574 VIPoma oboInOwl:hasDbXref GARD:5493 semapv:UnspecifiedMatching DOID:5574 VIPoma oboInOwl:hasDbXref ICDO:8155/3 semapv:UnspecifiedMatching DOID:5574 VIPoma oboInOwl:hasDbXref MESH:D003969 semapv:UnspecifiedMatching @@ -32744,9 +21771,7 @@ DOID:5598 fallopian tube serous adenocarcinoma oboInOwl:hasDbXref UMLS:C1517124 DOID:560 jaw-winking syndrome oboInOwl:hasDbXref ICD10CM:Q07.8 semapv:UnspecifiedMatching DOID:560 jaw-winking syndrome oboInOwl:hasDbXref ICD9CM:374.43 semapv:UnspecifiedMatching DOID:560 jaw-winking syndrome oboInOwl:hasDbXref MESH:C535908 semapv:UnspecifiedMatching -DOID:560 jaw-winking syndrome oboInOwl:hasDbXref OMIM:154600 semapv:UnspecifiedMatching DOID:560 jaw-winking syndrome oboInOwl:hasDbXref UMLS:C0266521 semapv:UnspecifiedMatching -DOID:560 jaw-winking syndrome skos:exactMatch OMIM:154600 semapv:UnspecifiedMatching DOID:5602 T-cell adult acute lymphocytic leukemia oboInOwl:hasDbXref NCI:C9142 semapv:UnspecifiedMatching DOID:5602 T-cell adult acute lymphocytic leukemia oboInOwl:hasDbXref UMLS:C0279592 semapv:UnspecifiedMatching DOID:5603 T-cell acute lymphoblastic leukemia oboInOwl:hasDbXref ICDO:9729/3 semapv:UnspecifiedMatching @@ -32879,16 +21904,12 @@ DOID:5683 hereditary breast ovarian cancer syndrome oboInOwl:hasDbXref MESH:D061 DOID:5683 hereditary breast ovarian cancer syndrome oboInOwl:hasDbXref NCI:C8493 semapv:UnspecifiedMatching DOID:5683 hereditary breast ovarian cancer syndrome oboInOwl:hasDbXref UMLS:C0677776 semapv:UnspecifiedMatching DOID:5684 spondyloepimetaphyseal dysplasia, Sponastrime type oboInOwl:hasDbXref NCI:C92206 semapv:UnspecifiedMatching -DOID:5684 spondyloepimetaphyseal dysplasia, Sponastrime type oboInOwl:hasDbXref OMIM:271510 semapv:UnspecifiedMatching DOID:5684 spondyloepimetaphyseal dysplasia, Sponastrime type oboInOwl:hasDbXref UMLS:C0920349 semapv:UnspecifiedMatching -DOID:5684 spondyloepimetaphyseal dysplasia, Sponastrime type skos:exactMatch OMIM:271510 semapv:UnspecifiedMatching DOID:5688 Werner syndrome oboInOwl:hasDbXref GARD:7885 semapv:UnspecifiedMatching DOID:5688 Werner syndrome oboInOwl:hasDbXref MESH:D014898 semapv:UnspecifiedMatching DOID:5688 Werner syndrome oboInOwl:hasDbXref NCI:C3447 semapv:UnspecifiedMatching -DOID:5688 Werner syndrome oboInOwl:hasDbXref OMIM:277700 semapv:UnspecifiedMatching DOID:5688 Werner syndrome oboInOwl:hasDbXref ORDO:902 semapv:UnspecifiedMatching DOID:5688 Werner syndrome oboInOwl:hasDbXref UMLS:C0043119 semapv:UnspecifiedMatching -DOID:5688 Werner syndrome skos:exactMatch OMIM:277700 semapv:UnspecifiedMatching DOID:5690 well-differentiated liposarcoma oboInOwl:hasDbXref MESH:D008080 semapv:UnspecifiedMatching DOID:5690 well-differentiated liposarcoma oboInOwl:hasDbXref NCI:C176979 semapv:UnspecifiedMatching DOID:5690 well-differentiated liposarcoma oboInOwl:hasDbXref ORDO:99971 semapv:UnspecifiedMatching @@ -32966,10 +21987,8 @@ DOID:5723 optic atrophy oboInOwl:hasDbXref ICD10CM:H47.2 semapv:UnspecifiedMatch DOID:5723 optic atrophy oboInOwl:hasDbXref ICD9CM:377.1 semapv:UnspecifiedMatching DOID:5723 optic atrophy oboInOwl:hasDbXref MESH:D009896 semapv:UnspecifiedMatching DOID:5723 optic atrophy oboInOwl:hasDbXref NCI:C34863 semapv:UnspecifiedMatching -DOID:5723 optic atrophy oboInOwl:hasDbXref OMIMPS:165500 semapv:UnspecifiedMatching DOID:5723 optic atrophy oboInOwl:hasDbXref ORDO:98673 semapv:UnspecifiedMatching DOID:5723 optic atrophy oboInOwl:hasDbXref UMLS:C0029124 semapv:UnspecifiedMatching -DOID:5723 optic atrophy skos:exactMatch OMIMPS:165500 semapv:UnspecifiedMatching DOID:5724 seminal vesicle cystadenoma oboInOwl:hasDbXref NCI:C39907 semapv:UnspecifiedMatching DOID:5724 seminal vesicle cystadenoma oboInOwl:hasDbXref UMLS:C1519234 semapv:UnspecifiedMatching DOID:5725 rete ovarii cystadenoma oboInOwl:hasDbXref NCI:C40019 semapv:UnspecifiedMatching @@ -33063,9 +22082,7 @@ DOID:5767 hilar lung neoplasm oboInOwl:hasDbXref NCI:C5671 semapv:UnspecifiedMat DOID:5767 hilar lung neoplasm oboInOwl:hasDbXref UMLS:C1290358 semapv:UnspecifiedMatching DOID:5768 Nager acrofacial dysostosis oboInOwl:hasDbXref GARD:498 semapv:UnspecifiedMatching DOID:5768 Nager acrofacial dysostosis oboInOwl:hasDbXref NCI:C35795 semapv:UnspecifiedMatching -DOID:5768 Nager acrofacial dysostosis oboInOwl:hasDbXref OMIM:154400 semapv:UnspecifiedMatching DOID:5768 Nager acrofacial dysostosis oboInOwl:hasDbXref UMLS:C1332140 semapv:UnspecifiedMatching -DOID:5768 Nager acrofacial dysostosis skos:exactMatch OMIM:154400 semapv:UnspecifiedMatching DOID:5769 verruciform xanthoma of skin oboInOwl:hasDbXref NCI:C4478 semapv:UnspecifiedMatching DOID:5769 verruciform xanthoma of skin oboInOwl:hasDbXref UMLS:C0346054 semapv:UnspecifiedMatching DOID:5772 central nervous system hematologic cancer oboInOwl:hasDbXref NCI:C5503 semapv:UnspecifiedMatching @@ -33099,39 +22116,29 @@ DOID:5798 macrotrabecular hepatoblastoma oboInOwl:hasDbXref NCI:C7095 semapv:Uns DOID:5798 macrotrabecular hepatoblastoma oboInOwl:hasDbXref UMLS:C1334543 semapv:UnspecifiedMatching DOID:580 uric acid nephrolithiasis oboInOwl:hasDbXref ICD9CM:274.11 semapv:UnspecifiedMatching DOID:580 uric acid nephrolithiasis oboInOwl:hasDbXref NCI:C123245 semapv:UnspecifiedMatching -DOID:580 uric acid nephrolithiasis oboInOwl:hasDbXref OMIM:605990 semapv:UnspecifiedMatching DOID:580 uric acid nephrolithiasis oboInOwl:hasDbXref UMLS:C0403719 semapv:UnspecifiedMatching -DOID:580 uric acid nephrolithiasis skos:exactMatch OMIM:605990 semapv:UnspecifiedMatching DOID:5804 discrete subaortic stenosis oboInOwl:hasDbXref MESH:D021922 semapv:UnspecifiedMatching DOID:5804 discrete subaortic stenosis oboInOwl:hasDbXref UMLS:C0012628 semapv:UnspecifiedMatching DOID:5805 subvalvular aortic stenosis oboInOwl:hasDbXref GARD:5052 semapv:UnspecifiedMatching DOID:5805 subvalvular aortic stenosis oboInOwl:hasDbXref MESH:D001020 semapv:UnspecifiedMatching DOID:5805 subvalvular aortic stenosis oboInOwl:hasDbXref NCI:C85172 semapv:UnspecifiedMatching DOID:5805 subvalvular aortic stenosis oboInOwl:hasDbXref UMLS:C0340375 semapv:UnspecifiedMatching -DOID:5806 stork bite oboInOwl:hasDbXref OMIM:163100 semapv:UnspecifiedMatching -DOID:5806 stork bite skos:exactMatch OMIM:163100 semapv:UnspecifiedMatching DOID:5809 childhood parosteal osteogenic sarcoma oboInOwl:hasDbXref NCI:C6589 semapv:UnspecifiedMatching DOID:5809 childhood parosteal osteogenic sarcoma oboInOwl:hasDbXref UMLS:C1332994 semapv:UnspecifiedMatching DOID:5810 adenosine deaminase deficiency oboInOwl:hasDbXref GARD:5748 semapv:UnspecifiedMatching DOID:5810 adenosine deaminase deficiency oboInOwl:hasDbXref ICD10CM:D81.30 semapv:UnspecifiedMatching DOID:5810 adenosine deaminase deficiency oboInOwl:hasDbXref NCI:C3962 semapv:UnspecifiedMatching -DOID:5810 adenosine deaminase deficiency oboInOwl:hasDbXref OMIM:102700 semapv:UnspecifiedMatching DOID:5810 adenosine deaminase deficiency oboInOwl:hasDbXref UMLS:C0268124 semapv:UnspecifiedMatching -DOID:5810 adenosine deaminase deficiency skos:exactMatch OMIM:102700 semapv:UnspecifiedMatching DOID:5812 MHC class II deficiency oboInOwl:hasDbXref ICD10CM:D81.6 semapv:UnspecifiedMatching DOID:5812 MHC class II deficiency oboInOwl:hasDbXref MESH:D016511 semapv:UnspecifiedMatching DOID:5812 MHC class II deficiency oboInOwl:hasDbXref NCI:C3895 semapv:UnspecifiedMatching -DOID:5812 MHC class II deficiency oboInOwl:hasDbXref OMIM:209920 semapv:UnspecifiedMatching DOID:5812 MHC class II deficiency oboInOwl:hasDbXref UMLS:C0242583 semapv:UnspecifiedMatching -DOID:5812 MHC class II deficiency skos:exactMatch OMIM:209920 semapv:UnspecifiedMatching DOID:5813 purine nucleoside phosphorylase deficiency oboInOwl:hasDbXref GARD:4606 semapv:UnspecifiedMatching DOID:5813 purine nucleoside phosphorylase deficiency oboInOwl:hasDbXref ICD10CM:D81.5 semapv:UnspecifiedMatching DOID:5813 purine nucleoside phosphorylase deficiency oboInOwl:hasDbXref MESH:C562587 semapv:UnspecifiedMatching DOID:5813 purine nucleoside phosphorylase deficiency oboInOwl:hasDbXref NCI:C176817 semapv:UnspecifiedMatching -DOID:5813 purine nucleoside phosphorylase deficiency oboInOwl:hasDbXref OMIM:613179 semapv:UnspecifiedMatching DOID:5813 purine nucleoside phosphorylase deficiency oboInOwl:hasDbXref ORDO:760 semapv:UnspecifiedMatching DOID:5813 purine nucleoside phosphorylase deficiency oboInOwl:hasDbXref UMLS:C0268125 semapv:UnspecifiedMatching -DOID:5813 purine nucleoside phosphorylase deficiency skos:exactMatch OMIM:613179 semapv:UnspecifiedMatching DOID:5815 cerebral lymphoma oboInOwl:hasDbXref NCI:C7611 semapv:UnspecifiedMatching DOID:5815 cerebral lymphoma oboInOwl:hasDbXref UMLS:C0240803 semapv:UnspecifiedMatching DOID:582 hemoglobinuria oboInOwl:hasDbXref ICD10CM:R82.3 semapv:UnspecifiedMatching @@ -33158,8 +22165,6 @@ DOID:5829 uterine ligament endometrioid adenocarcinoma oboInOwl:hasDbXref UMLS:C DOID:583 hemolytic anemia oboInOwl:hasDbXref ICD10CM:D55-D59 semapv:UnspecifiedMatching DOID:583 hemolytic anemia oboInOwl:hasDbXref MESH:D000743 semapv:UnspecifiedMatching DOID:583 hemolytic anemia oboInOwl:hasDbXref NCI:C34376 semapv:UnspecifiedMatching -DOID:583 hemolytic anemia oboInOwl:hasDbXref OMIM:266120 semapv:UnspecifiedMatching -DOID:583 hemolytic anemia oboInOwl:hasDbXref OMIM:612631 semapv:UnspecifiedMatching DOID:583 hemolytic anemia oboInOwl:hasDbXref UMLS:C0002878 semapv:UnspecifiedMatching DOID:5830 cervical endometrioid adenocarcinoma oboInOwl:hasDbXref NCI:C6343 semapv:UnspecifiedMatching DOID:5830 cervical endometrioid adenocarcinoma oboInOwl:hasDbXref UMLS:C1332913 semapv:UnspecifiedMatching @@ -33180,9 +22185,7 @@ DOID:5844 myocardial infarction oboInOwl:hasDbXref EFO:0000612 semapv:Unspecifie DOID:5844 myocardial infarction oboInOwl:hasDbXref ICD10CM:I21 semapv:UnspecifiedMatching DOID:5844 myocardial infarction oboInOwl:hasDbXref MESH:D009203 semapv:UnspecifiedMatching DOID:5844 myocardial infarction oboInOwl:hasDbXref NCI:C27996 semapv:UnspecifiedMatching -DOID:5844 myocardial infarction oboInOwl:hasDbXref OMIM:608557 semapv:UnspecifiedMatching DOID:5844 myocardial infarction oboInOwl:hasDbXref UMLS:C0027051 semapv:UnspecifiedMatching -DOID:5844 myocardial infarction skos:exactMatch OMIM:608557 semapv:UnspecifiedMatching DOID:5845 anterolateral myocardial infarction oboInOwl:hasDbXref MESH:D056988 semapv:UnspecifiedMatching DOID:5845 anterolateral myocardial infarction oboInOwl:hasDbXref UMLS:C0262564 semapv:UnspecifiedMatching DOID:5846 septal myocardial infarction oboInOwl:hasDbXref UMLS:C0746727 semapv:UnspecifiedMatching @@ -33300,9 +22303,6 @@ DOID:594 panic disorder oboInOwl:hasDbXref EFO:0004262 semapv:UnspecifiedMatchin DOID:594 panic disorder oboInOwl:hasDbXref ICD10CM:F41.0 semapv:UnspecifiedMatching DOID:594 panic disorder oboInOwl:hasDbXref MESH:D016584 semapv:UnspecifiedMatching DOID:594 panic disorder oboInOwl:hasDbXref NCI:C34890 semapv:UnspecifiedMatching -DOID:594 panic disorder oboInOwl:hasDbXref OMIM:167870 semapv:UnspecifiedMatching -DOID:594 panic disorder oboInOwl:hasDbXref OMIM:607853 semapv:UnspecifiedMatching -DOID:594 panic disorder oboInOwl:hasDbXref OMIM:609985 semapv:UnspecifiedMatching DOID:594 panic disorder oboInOwl:hasDbXref UMLS:C0030319 semapv:UnspecifiedMatching DOID:5940 malignant peripheral nerve sheath tumor oboInOwl:hasDbXref GARD:10872 semapv:UnspecifiedMatching DOID:5940 malignant peripheral nerve sheath tumor oboInOwl:hasDbXref ICDO:9540/3 semapv:UnspecifiedMatching @@ -33335,9 +22335,7 @@ DOID:5983 kidney osteogenic sarcoma oboInOwl:hasDbXref UMLS:C1335747 semapv:Unsp DOID:599 specific phobia oboInOwl:hasDbXref ICD10CM:F40.2 semapv:UnspecifiedMatching DOID:599 specific phobia oboInOwl:hasDbXref MESH:C562465 semapv:UnspecifiedMatching DOID:599 specific phobia oboInOwl:hasDbXref NCI:C35284 semapv:UnspecifiedMatching -DOID:599 specific phobia oboInOwl:hasDbXref OMIM:608251 semapv:UnspecifiedMatching DOID:599 specific phobia oboInOwl:hasDbXref UMLS:C0236801 semapv:UnspecifiedMatching -DOID:599 specific phobia skos:exactMatch OMIM:608251 semapv:UnspecifiedMatching DOID:5990 internal auditory canal meningioma oboInOwl:hasDbXref NCI:C5307 semapv:UnspecifiedMatching DOID:5990 internal auditory canal meningioma oboInOwl:hasDbXref UMLS:C1334227 semapv:UnspecifiedMatching DOID:5997 non-proliferative fibrocystic change of the breast oboInOwl:hasDbXref NCI:C6943 semapv:UnspecifiedMatching @@ -33395,9 +22393,6 @@ DOID:6037 spindle cell intraocular melanoma oboInOwl:hasDbXref NCI:C7986 semapv: DOID:6037 spindle cell intraocular melanoma oboInOwl:hasDbXref UMLS:C0279687 semapv:UnspecifiedMatching DOID:6039 uveal melanoma oboInOwl:hasDbXref MESH:C536494 semapv:UnspecifiedMatching DOID:6039 uveal melanoma oboInOwl:hasDbXref NCI:C7712 semapv:UnspecifiedMatching -DOID:6039 uveal melanoma oboInOwl:hasDbXref OMIM:155720 semapv:UnspecifiedMatching -DOID:6039 uveal melanoma oboInOwl:hasDbXref OMIM:606660 semapv:UnspecifiedMatching -DOID:6039 uveal melanoma oboInOwl:hasDbXref OMIM:606661 semapv:UnspecifiedMatching DOID:6039 uveal melanoma oboInOwl:hasDbXref ORDO:39044 semapv:UnspecifiedMatching DOID:6039 uveal melanoma oboInOwl:hasDbXref UMLS:C0220633 semapv:UnspecifiedMatching DOID:6041 choroid spindle cell melanoma oboInOwl:hasDbXref NCI:C6099 semapv:UnspecifiedMatching @@ -33496,14 +22491,10 @@ DOID:612 primary immunodeficiency disease oboInOwl:hasDbXref ICD9CM:279.3 semapv DOID:612 primary immunodeficiency disease oboInOwl:hasDbXref KEGG:05340 semapv:UnspecifiedMatching DOID:612 primary immunodeficiency disease oboInOwl:hasDbXref MESH:D007153 semapv:UnspecifiedMatching DOID:612 primary immunodeficiency disease oboInOwl:hasDbXref NCI:C39725 semapv:UnspecifiedMatching -DOID:612 primary immunodeficiency disease oboInOwl:hasDbXref OMIM:242850 semapv:UnspecifiedMatching -DOID:612 primary immunodeficiency disease oboInOwl:hasDbXref OMIMPS:300755 semapv:UnspecifiedMatching DOID:612 primary immunodeficiency disease oboInOwl:hasDbXref UMLS:C0021051 semapv:UnspecifiedMatching DOID:6126 anal canal carcinoma oboInOwl:hasDbXref MESH:C563020 semapv:UnspecifiedMatching DOID:6126 anal canal carcinoma oboInOwl:hasDbXref NCI:C7489 semapv:UnspecifiedMatching -DOID:6126 anal canal carcinoma oboInOwl:hasDbXref OMIM:105580 semapv:UnspecifiedMatching DOID:6126 anal canal carcinoma oboInOwl:hasDbXref UMLS:C0563211 semapv:UnspecifiedMatching -DOID:6126 anal canal carcinoma skos:exactMatch OMIM:105580 semapv:UnspecifiedMatching DOID:6128 gliomatosis cerebri oboInOwl:hasDbXref GARD:6514 semapv:UnspecifiedMatching DOID:6128 gliomatosis cerebri oboInOwl:hasDbXref ICDO:9381/3 semapv:UnspecifiedMatching DOID:6128 gliomatosis cerebri oboInOwl:hasDbXref MESH:D018302 semapv:UnspecifiedMatching @@ -33628,9 +22619,7 @@ DOID:6217 gastric diffuse adenocarcinoma oboInOwl:hasDbXref NCI:C9159 semapv:Uns DOID:6217 gastric diffuse adenocarcinoma oboInOwl:hasDbXref UMLS:C0279635 semapv:UnspecifiedMatching DOID:6217 gastric diffuse adenocarcinoma oboInOwl:hasDbXref UMLS:C0334280 semapv:UnspecifiedMatching DOID:6225 Cronkhite-Canada syndrome oboInOwl:hasDbXref NCI:C7035 semapv:UnspecifiedMatching -DOID:6225 Cronkhite-Canada syndrome oboInOwl:hasDbXref OMIM:175500 semapv:UnspecifiedMatching DOID:6225 Cronkhite-Canada syndrome oboInOwl:hasDbXref UMLS:C1333764 semapv:UnspecifiedMatching -DOID:6225 Cronkhite-Canada syndrome skos:exactMatch OMIM:175500 semapv:UnspecifiedMatching DOID:6227 articular cartilage disease oboInOwl:hasDbXref ICD9CM:718.0 semapv:UnspecifiedMatching DOID:6227 articular cartilage disease oboInOwl:hasDbXref UMLS:C0158073 semapv:UnspecifiedMatching DOID:6228 peritoneal serous papillary adenocarcinoma oboInOwl:hasDbXref NCI:C7695 semapv:UnspecifiedMatching @@ -33655,9 +22644,7 @@ DOID:6244 familial renal oncocytoma oboInOwl:hasDbXref UMLS:C0879606 semapv:Unsp DOID:6245 renal oncocytoma oboInOwl:hasDbXref GARD:8477 semapv:UnspecifiedMatching DOID:6245 renal oncocytoma oboInOwl:hasDbXref MESH:C537750 semapv:UnspecifiedMatching DOID:6245 renal oncocytoma oboInOwl:hasDbXref NCI:C4526 semapv:UnspecifiedMatching -DOID:6245 renal oncocytoma oboInOwl:hasDbXref OMIM:553000 semapv:UnspecifiedMatching DOID:6245 renal oncocytoma oboInOwl:hasDbXref UMLS:C0346255 semapv:UnspecifiedMatching -DOID:6245 renal oncocytoma skos:exactMatch OMIM:553000 semapv:UnspecifiedMatching DOID:6249 mediastinum seminoma oboInOwl:hasDbXref NCI:C6812 semapv:UnspecifiedMatching DOID:6249 mediastinum seminoma oboInOwl:hasDbXref UMLS:C1334680 semapv:UnspecifiedMatching DOID:625 transient hypogammaglobulinemia oboInOwl:hasDbXref NCI:C27319 semapv:UnspecifiedMatching @@ -33743,9 +22730,7 @@ DOID:6322 tibial adamantinoma oboInOwl:hasDbXref UMLS:C1273017 semapv:Unspecifie DOID:633 myositis oboInOwl:hasDbXref ICD10CM:M60 semapv:UnspecifiedMatching DOID:633 myositis oboInOwl:hasDbXref MESH:D009220 semapv:UnspecifiedMatching DOID:633 myositis oboInOwl:hasDbXref NCI:C27578 semapv:UnspecifiedMatching -DOID:633 myositis oboInOwl:hasDbXref OMIM:160750 semapv:UnspecifiedMatching DOID:633 myositis oboInOwl:hasDbXref UMLS:C0027121 semapv:UnspecifiedMatching -DOID:633 myositis skos:exactMatch OMIM:160750 semapv:UnspecifiedMatching DOID:6331 immature teratoma of ovary oboInOwl:hasDbXref NCI:C8111 semapv:UnspecifiedMatching DOID:6331 immature teratoma of ovary oboInOwl:hasDbXref UMLS:C0346182 semapv:UnspecifiedMatching DOID:6332 adult malignant hemangiopericytoma oboInOwl:hasDbXref NCI:C7946 semapv:UnspecifiedMatching @@ -33782,10 +22767,8 @@ DOID:6364 migraine oboInOwl:hasDbXref ICD10CM:G43 semapv:UnspecifiedMatching DOID:6364 migraine oboInOwl:hasDbXref ICD9CM:346 semapv:UnspecifiedMatching DOID:6364 migraine oboInOwl:hasDbXref MESH:D008881 semapv:UnspecifiedMatching DOID:6364 migraine oboInOwl:hasDbXref NCI:C89715 semapv:UnspecifiedMatching -DOID:6364 migraine oboInOwl:hasDbXref OMIM:157300 semapv:UnspecifiedMatching DOID:6364 migraine oboInOwl:hasDbXref UMLS:C0042331 semapv:UnspecifiedMatching DOID:6364 migraine oboInOwl:hasDbXref UMLS:C0149931 semapv:UnspecifiedMatching -DOID:6364 migraine skos:exactMatch OMIM:157300 semapv:UnspecifiedMatching DOID:6367 acral lentiginous melanoma oboInOwl:hasDbXref GARD:9570 semapv:UnspecifiedMatching DOID:6370 hepatic osteogenic sarcoma oboInOwl:hasDbXref NCI:C5833 semapv:UnspecifiedMatching DOID:6370 hepatic osteogenic sarcoma oboInOwl:hasDbXref UMLS:C1333974 semapv:UnspecifiedMatching @@ -33823,10 +22806,8 @@ DOID:6406 double outlet right ventricle oboInOwl:hasDbXref ICD10CM:Q20.1 semapv: DOID:6406 double outlet right ventricle oboInOwl:hasDbXref ICD9CM:745.11 semapv:UnspecifiedMatching DOID:6406 double outlet right ventricle oboInOwl:hasDbXref MESH:D004310 semapv:UnspecifiedMatching DOID:6406 double outlet right ventricle oboInOwl:hasDbXref NCI:C98916 semapv:UnspecifiedMatching -DOID:6406 double outlet right ventricle oboInOwl:hasDbXref OMIM:217095 semapv:UnspecifiedMatching DOID:6406 double outlet right ventricle oboInOwl:hasDbXref ORDO:3426 semapv:UnspecifiedMatching DOID:6406 double outlet right ventricle oboInOwl:hasDbXref UMLS:C0013069 semapv:UnspecifiedMatching -DOID:6406 double outlet right ventricle skos:exactMatch OMIM:217095 semapv:UnspecifiedMatching DOID:6407 ovarian surface papilloma oboInOwl:hasDbXref NCI:C7279 semapv:UnspecifiedMatching DOID:6407 ovarian surface papilloma oboInOwl:hasDbXref UMLS:C1335183 semapv:UnspecifiedMatching DOID:6408 ovary papillary carcinoma oboInOwl:hasDbXref NCI:C6256 semapv:UnspecifiedMatching @@ -33836,14 +22817,10 @@ DOID:6419 tetralogy of Fallot oboInOwl:hasDbXref ICD10CM:Q21.3 semapv:Unspecifie DOID:6419 tetralogy of Fallot oboInOwl:hasDbXref ICD9CM:745.2 semapv:UnspecifiedMatching DOID:6419 tetralogy of Fallot oboInOwl:hasDbXref MESH:D013771 semapv:UnspecifiedMatching DOID:6419 tetralogy of Fallot oboInOwl:hasDbXref NCI:C84505 semapv:UnspecifiedMatching -DOID:6419 tetralogy of Fallot oboInOwl:hasDbXref OMIM:187500 semapv:UnspecifiedMatching DOID:6419 tetralogy of Fallot oboInOwl:hasDbXref UMLS:C0039685 semapv:UnspecifiedMatching -DOID:6419 tetralogy of Fallot skos:exactMatch OMIM:187500 semapv:UnspecifiedMatching DOID:6420 pulmonary valve stenosis oboInOwl:hasDbXref GARD:4596 semapv:UnspecifiedMatching DOID:6420 pulmonary valve stenosis oboInOwl:hasDbXref MESH:D011666 semapv:UnspecifiedMatching -DOID:6420 pulmonary valve stenosis oboInOwl:hasDbXref OMIM:265500 semapv:UnspecifiedMatching DOID:6420 pulmonary valve stenosis oboInOwl:hasDbXref UMLS:C0034089 semapv:UnspecifiedMatching -DOID:6420 pulmonary valve stenosis skos:exactMatch OMIM:265500 semapv:UnspecifiedMatching DOID:6423 childhood central nervous system mature teratoma oboInOwl:hasDbXref NCI:C27404 semapv:UnspecifiedMatching DOID:6423 childhood central nervous system mature teratoma oboInOwl:hasDbXref UMLS:C1332955 semapv:UnspecifiedMatching DOID:6425 eyelid carcinoma oboInOwl:hasDbXref NCI:C6078 semapv:UnspecifiedMatching @@ -33875,11 +22852,9 @@ DOID:6457 Cowden syndrome oboInOwl:hasDbXref ICDO:9493/0 semapv:UnspecifiedMatch DOID:6457 Cowden syndrome oboInOwl:hasDbXref MESH:D006223 semapv:UnspecifiedMatching DOID:6457 Cowden syndrome oboInOwl:hasDbXref NCI:C3076 semapv:UnspecifiedMatching DOID:6457 Cowden syndrome oboInOwl:hasDbXref NCI:C8419 semapv:UnspecifiedMatching -DOID:6457 Cowden syndrome oboInOwl:hasDbXref OMIMPS:158350 semapv:UnspecifiedMatching DOID:6457 Cowden syndrome oboInOwl:hasDbXref ORDO:201 semapv:UnspecifiedMatching DOID:6457 Cowden syndrome oboInOwl:hasDbXref UMLS:C0018553 semapv:UnspecifiedMatching DOID:6457 Cowden syndrome oboInOwl:hasDbXref UMLS:C0391826 semapv:UnspecifiedMatching -DOID:6457 Cowden syndrome skos:exactMatch OMIMPS:158350 semapv:UnspecifiedMatching DOID:6458 cerebellar liponeurocytoma oboInOwl:hasDbXref GARD:10642 semapv:UnspecifiedMatching DOID:6458 cerebellar liponeurocytoma oboInOwl:hasDbXref ICDO:9506/1 semapv:UnspecifiedMatching DOID:6458 cerebellar liponeurocytoma oboInOwl:hasDbXref NCI:C6905 semapv:UnspecifiedMatching @@ -33932,9 +22907,7 @@ DOID:6498 seborrheic keratosis oboInOwl:hasDbXref ICD10CM:L82 semapv:Unspecified DOID:6498 seborrheic keratosis oboInOwl:hasDbXref ICD9CM:702.1 semapv:UnspecifiedMatching DOID:6498 seborrheic keratosis oboInOwl:hasDbXref MESH:D017492 semapv:UnspecifiedMatching DOID:6498 seborrheic keratosis oboInOwl:hasDbXref NCI:C9006 semapv:UnspecifiedMatching -DOID:6498 seborrheic keratosis oboInOwl:hasDbXref OMIM:182000 semapv:UnspecifiedMatching DOID:6498 seborrheic keratosis oboInOwl:hasDbXref UMLS:C0022603 semapv:UnspecifiedMatching -DOID:6498 seborrheic keratosis skos:exactMatch OMIM:182000 semapv:UnspecifiedMatching DOID:65 connective tissue disease oboInOwl:hasDbXref MESH:D003240 semapv:UnspecifiedMatching DOID:65 connective tissue disease oboInOwl:hasDbXref NCI:C26729 semapv:UnspecifiedMatching DOID:65 connective tissue disease oboInOwl:hasDbXref UMLS:C0009782 semapv:UnspecifiedMatching @@ -33978,10 +22951,8 @@ DOID:6543 acne oboInOwl:hasDbXref ICD10CM:L70 semapv:UnspecifiedMatching DOID:6543 acne oboInOwl:hasDbXref ICD10CM:L70.2 semapv:UnspecifiedMatching DOID:6543 acne oboInOwl:hasDbXref ICD9CM:706.0 semapv:UnspecifiedMatching DOID:6543 acne oboInOwl:hasDbXref MESH:D000152 semapv:UnspecifiedMatching -DOID:6543 acne oboInOwl:hasDbXref OMIM:604324 semapv:UnspecifiedMatching DOID:6543 acne oboInOwl:hasDbXref UMLS:C0152249 semapv:UnspecifiedMatching DOID:6543 acne oboInOwl:hasDbXref UMLS:C0702166 semapv:UnspecifiedMatching -DOID:6543 acne skos:exactMatch OMIM:604324 semapv:UnspecifiedMatching DOID:6547 heart lymphoma oboInOwl:hasDbXref NCI:C5368 semapv:UnspecifiedMatching DOID:6547 heart lymphoma oboInOwl:hasDbXref UMLS:C1332850 semapv:UnspecifiedMatching DOID:6548 angiomatous meningioma oboInOwl:hasDbXref ICDO:9534/0 semapv:UnspecifiedMatching @@ -34070,14 +23041,11 @@ DOID:6613 vaginal villous adenoma oboInOwl:hasDbXref UMLS:C1519936 semapv:Unspec DOID:6620 X-linked hyper IgM syndrome oboInOwl:hasDbXref GARD:73 semapv:UnspecifiedMatching DOID:6620 X-linked hyper IgM syndrome oboInOwl:hasDbXref MESH:D053307 semapv:UnspecifiedMatching DOID:6620 X-linked hyper IgM syndrome oboInOwl:hasDbXref NCI:C158531 semapv:UnspecifiedMatching -DOID:6620 X-linked hyper IgM syndrome oboInOwl:hasDbXref OMIM:308230 semapv:UnspecifiedMatching DOID:6620 X-linked hyper IgM syndrome oboInOwl:hasDbXref ORDO:101088 semapv:UnspecifiedMatching DOID:6620 X-linked hyper IgM syndrome oboInOwl:hasDbXref UMLS:C0398689 semapv:UnspecifiedMatching DOID:6620 X-linked hyper IgM syndrome skos:exactMatch GARD:73 semapv:UnspecifiedMatching DOID:6620 X-linked hyper IgM syndrome skos:exactMatch MESH:D053307 semapv:UnspecifiedMatching DOID:6620 X-linked hyper IgM syndrome skos:exactMatch NCI:C158531 semapv:UnspecifiedMatching -DOID:6620 X-linked hyper IgM syndrome skos:exactMatch OMIM:308230 semapv:UnspecifiedMatching -DOID:6620 X-linked hyper IgM syndrome skos:exactMatch OMIM:308230 semapv:UnspecifiedMatching DOID:6620 X-linked hyper IgM syndrome skos:exactMatch ORDO:101088 semapv:UnspecifiedMatching DOID:6620 X-linked hyper IgM syndrome skos:exactMatch SNOMEDCT_US_2020_03_01:403835002 semapv:UnspecifiedMatching DOID:6620 X-linked hyper IgM syndrome skos:exactMatch UMLS:C0398689 semapv:UnspecifiedMatching @@ -34107,9 +23075,7 @@ DOID:6652 diffuse idiopathic skeletal hyperostosis oboInOwl:hasDbXref ICD10CM:M4 DOID:6652 diffuse idiopathic skeletal hyperostosis oboInOwl:hasDbXref ICD9CM:721.6 semapv:UnspecifiedMatching DOID:6652 diffuse idiopathic skeletal hyperostosis oboInOwl:hasDbXref MESH:D004057 semapv:UnspecifiedMatching DOID:6652 diffuse idiopathic skeletal hyperostosis oboInOwl:hasDbXref NCI:C84671 semapv:UnspecifiedMatching -DOID:6652 diffuse idiopathic skeletal hyperostosis oboInOwl:hasDbXref OMIM:106400 semapv:UnspecifiedMatching DOID:6652 diffuse idiopathic skeletal hyperostosis oboInOwl:hasDbXref UMLS:C0020498 semapv:UnspecifiedMatching -DOID:6652 diffuse idiopathic skeletal hyperostosis skos:exactMatch OMIM:106400 semapv:UnspecifiedMatching DOID:6654 childhood central nervous system immature teratoma oboInOwl:hasDbXref NCI:C27405 semapv:UnspecifiedMatching DOID:6654 childhood central nervous system immature teratoma oboInOwl:hasDbXref UMLS:C1332954 semapv:UnspecifiedMatching DOID:6657 breast large cell neuroendocrine carcinoma oboInOwl:hasDbXref NCI:C40356 semapv:UnspecifiedMatching @@ -34129,9 +23095,7 @@ DOID:6677 diffuse infiltrative lymphocytosis syndrome oboInOwl:hasDbXref NCI:C35 DOID:6677 diffuse infiltrative lymphocytosis syndrome oboInOwl:hasDbXref UMLS:C1333292 semapv:UnspecifiedMatching DOID:6678 tooth and nail syndrome oboInOwl:hasDbXref MESH:C536736 semapv:UnspecifiedMatching DOID:6678 tooth and nail syndrome oboInOwl:hasDbXref NCI:C40553 semapv:UnspecifiedMatching -DOID:6678 tooth and nail syndrome oboInOwl:hasDbXref OMIM:189500 semapv:UnspecifiedMatching DOID:6678 tooth and nail syndrome oboInOwl:hasDbXref UMLS:C0406735 semapv:UnspecifiedMatching -DOID:6678 tooth and nail syndrome skos:exactMatch OMIM:189500 semapv:UnspecifiedMatching DOID:668 myositis ossificans oboInOwl:hasDbXref MESH:D009221 semapv:UnspecifiedMatching DOID:668 myositis ossificans oboInOwl:hasDbXref NCI:C3253 semapv:UnspecifiedMatching DOID:668 myositis ossificans oboInOwl:hasDbXref UMLS:C0027122 semapv:UnspecifiedMatching @@ -34141,22 +23105,16 @@ DOID:6680 Capgras syndrome oboInOwl:hasDbXref UMLS:C0006895 semapv:UnspecifiedMa DOID:6682 spondylolisthesis oboInOwl:hasDbXref ICD10CM:M43.1 semapv:UnspecifiedMatching DOID:6682 spondylolisthesis oboInOwl:hasDbXref MESH:D013168 semapv:UnspecifiedMatching DOID:6682 spondylolisthesis oboInOwl:hasDbXref NCI:C35033 semapv:UnspecifiedMatching -DOID:6682 spondylolisthesis oboInOwl:hasDbXref OMIM:184200 semapv:UnspecifiedMatching DOID:6682 spondylolisthesis oboInOwl:hasDbXref UMLS:C0038016 semapv:UnspecifiedMatching -DOID:6682 spondylolisthesis skos:exactMatch OMIM:184200 semapv:UnspecifiedMatching DOID:6683 X-linked Aarskog syndrome oboInOwl:hasDbXref GARD:4775 semapv:UnspecifiedMatching DOID:6683 X-linked Aarskog syndrome oboInOwl:hasDbXref ICD10CM:Q87.19 semapv:UnspecifiedMatching DOID:6683 X-linked Aarskog syndrome oboInOwl:hasDbXref MESH:C535331 semapv:UnspecifiedMatching DOID:6683 X-linked Aarskog syndrome oboInOwl:hasDbXref NCI:C129720 semapv:UnspecifiedMatching -DOID:6683 X-linked Aarskog syndrome oboInOwl:hasDbXref OMIM:305400 semapv:UnspecifiedMatching DOID:6683 X-linked Aarskog syndrome oboInOwl:hasDbXref UMLS:C0175701 semapv:UnspecifiedMatching -DOID:6683 X-linked Aarskog syndrome skos:exactMatch OMIM:305400 semapv:UnspecifiedMatching DOID:6686 Achard syndrome oboInOwl:hasDbXref GARD:8176 semapv:UnspecifiedMatching DOID:6686 Achard syndrome oboInOwl:hasDbXref MESH:C536012 semapv:UnspecifiedMatching DOID:6686 Achard syndrome oboInOwl:hasDbXref NCI:C35809 semapv:UnspecifiedMatching -DOID:6686 Achard syndrome oboInOwl:hasDbXref OMIM:100700 semapv:UnspecifiedMatching DOID:6686 Achard syndrome oboInOwl:hasDbXref UMLS:C1332135 semapv:UnspecifiedMatching -DOID:6686 Achard syndrome skos:exactMatch OMIM:100700 semapv:UnspecifiedMatching DOID:6687 Achenbach syndrome oboInOwl:hasDbXref NCI:C35467 semapv:UnspecifiedMatching DOID:6687 Achenbach syndrome oboInOwl:hasDbXref UMLS:C0473563 semapv:UnspecifiedMatching DOID:6688 autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref GARD:8686 semapv:UnspecifiedMatching @@ -34164,18 +23122,14 @@ DOID:6688 autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref ICD10CM:D89 DOID:6688 autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref ICD9CM:279.41 semapv:UnspecifiedMatching DOID:6688 autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref MESH:D056735 semapv:UnspecifiedMatching DOID:6688 autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref NCI:C37864 semapv:UnspecifiedMatching -DOID:6688 autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref OMIM:601859 semapv:UnspecifiedMatching DOID:6688 autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref ORDO:3261 semapv:UnspecifiedMatching DOID:6688 autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref UMLS:C1328840 semapv:UnspecifiedMatching DOID:6688 autoimmune lymphoproliferative syndrome skos:exactMatch MESH:D056735 semapv:UnspecifiedMatching -DOID:6688 autoimmune lymphoproliferative syndrome skos:exactMatch OMIM:601859 semapv:UnspecifiedMatching DOID:6691 Aagenaes syndrome oboInOwl:hasDbXref GARD:370 semapv:UnspecifiedMatching DOID:6691 Aagenaes syndrome oboInOwl:hasDbXref MESH:C535330 semapv:UnspecifiedMatching DOID:6691 Aagenaes syndrome oboInOwl:hasDbXref NCI:C35709 semapv:UnspecifiedMatching -DOID:6691 Aagenaes syndrome oboInOwl:hasDbXref OMIM:214900 semapv:UnspecifiedMatching DOID:6691 Aagenaes syndrome oboInOwl:hasDbXref ORDO:1414 semapv:UnspecifiedMatching DOID:6691 Aagenaes syndrome oboInOwl:hasDbXref UMLS:C0268314 semapv:UnspecifiedMatching -DOID:6691 Aagenaes syndrome skos:exactMatch OMIM:214900 semapv:UnspecifiedMatching DOID:6692 Barre-Lieou syndrome oboInOwl:hasDbXref ICD10CM:M53.0 semapv:UnspecifiedMatching DOID:6692 Barre-Lieou syndrome oboInOwl:hasDbXref MESH:D055010 semapv:UnspecifiedMatching DOID:6692 Barre-Lieou syndrome oboInOwl:hasDbXref NCI:C34411 semapv:UnspecifiedMatching @@ -34270,13 +23224,11 @@ DOID:676 juvenile rheumatoid arthritis oboInOwl:hasDbXref ICD9CM:714.32 semapv:U DOID:676 juvenile rheumatoid arthritis oboInOwl:hasDbXref ICD9CM:714.33 semapv:UnspecifiedMatching DOID:676 juvenile rheumatoid arthritis oboInOwl:hasDbXref NCI:C26979 semapv:UnspecifiedMatching DOID:676 juvenile rheumatoid arthritis oboInOwl:hasDbXref NCI:C61279 semapv:UnspecifiedMatching -DOID:676 juvenile rheumatoid arthritis oboInOwl:hasDbXref OMIM:604302 semapv:UnspecifiedMatching DOID:676 juvenile rheumatoid arthritis oboInOwl:hasDbXref ORDO:92 semapv:UnspecifiedMatching DOID:676 juvenile rheumatoid arthritis oboInOwl:hasDbXref UMLS:C0157916 semapv:UnspecifiedMatching DOID:676 juvenile rheumatoid arthritis oboInOwl:hasDbXref UMLS:C0157917 semapv:UnspecifiedMatching DOID:676 juvenile rheumatoid arthritis oboInOwl:hasDbXref UMLS:C0157918 semapv:UnspecifiedMatching DOID:676 juvenile rheumatoid arthritis oboInOwl:hasDbXref UMLS:C0409667 semapv:UnspecifiedMatching -DOID:676 juvenile rheumatoid arthritis skos:exactMatch OMIM:604302 semapv:UnspecifiedMatching DOID:6760 lung lymphoma oboInOwl:hasDbXref UMLS:C0519063 semapv:UnspecifiedMatching DOID:6762 sternum lymphoma oboInOwl:hasDbXref NCI:C6716 semapv:UnspecifiedMatching DOID:6762 sternum lymphoma oboInOwl:hasDbXref UMLS:C1336504 semapv:UnspecifiedMatching @@ -34290,9 +23242,6 @@ DOID:678 progressive supranuclear palsy oboInOwl:hasDbXref GARD:7471 semapv:Unsp DOID:678 progressive supranuclear palsy oboInOwl:hasDbXref ICD10CM:G23.1 semapv:UnspecifiedMatching DOID:678 progressive supranuclear palsy oboInOwl:hasDbXref MESH:D013494 semapv:UnspecifiedMatching DOID:678 progressive supranuclear palsy oboInOwl:hasDbXref NCI:C85028 semapv:UnspecifiedMatching -DOID:678 progressive supranuclear palsy oboInOwl:hasDbXref OMIM:601104 semapv:UnspecifiedMatching -DOID:678 progressive supranuclear palsy oboInOwl:hasDbXref OMIM:609454 semapv:UnspecifiedMatching -DOID:678 progressive supranuclear palsy oboInOwl:hasDbXref OMIM:610898 semapv:UnspecifiedMatching DOID:678 progressive supranuclear palsy oboInOwl:hasDbXref ORDO:683 semapv:UnspecifiedMatching DOID:678 progressive supranuclear palsy oboInOwl:hasDbXref UMLS:C0038868 semapv:UnspecifiedMatching DOID:6785 desmoplastic small round cell tumor oboInOwl:hasDbXref GARD:6265 semapv:UnspecifiedMatching @@ -34350,10 +23299,8 @@ DOID:684 hepatocellular carcinoma oboInOwl:hasDbXref ICD10CM:C22.0 semapv:Unspec DOID:684 hepatocellular carcinoma oboInOwl:hasDbXref ICDO:8170/3 semapv:UnspecifiedMatching DOID:684 hepatocellular carcinoma oboInOwl:hasDbXref MESH:D006528 semapv:UnspecifiedMatching DOID:684 hepatocellular carcinoma oboInOwl:hasDbXref NCI:C3099 semapv:UnspecifiedMatching -DOID:684 hepatocellular carcinoma oboInOwl:hasDbXref OMIM:114550 semapv:UnspecifiedMatching DOID:684 hepatocellular carcinoma oboInOwl:hasDbXref ORDO:88673 semapv:UnspecifiedMatching DOID:684 hepatocellular carcinoma oboInOwl:hasDbXref UMLS:C2239176 semapv:UnspecifiedMatching -DOID:684 hepatocellular carcinoma skos:exactMatch OMIM:114550 semapv:UnspecifiedMatching DOID:6841 flat ductal epithelial atypia oboInOwl:hasDbXref NCI:C36086 semapv:UnspecifiedMatching DOID:6841 flat ductal epithelial atypia oboInOwl:hasDbXref UMLS:C1333620 semapv:UnspecifiedMatching DOID:6844 kidney pelvis sarcomatoid transitional cell carcinoma oboInOwl:hasDbXref NCI:C6186 semapv:UnspecifiedMatching @@ -34485,9 +23432,7 @@ DOID:6988 peripheral epithelioid sarcoma oboInOwl:hasDbXref NCI:C27473 semapv:Un DOID:6988 peripheral epithelioid sarcoma oboInOwl:hasDbXref UMLS:C1333306 semapv:UnspecifiedMatching DOID:699 mitochondrial myopathy oboInOwl:hasDbXref MESH:D017240 semapv:UnspecifiedMatching DOID:699 mitochondrial myopathy oboInOwl:hasDbXref NCI:C101328 semapv:UnspecifiedMatching -DOID:699 mitochondrial myopathy oboInOwl:hasDbXref OMIM:251900 semapv:UnspecifiedMatching DOID:699 mitochondrial myopathy oboInOwl:hasDbXref UMLS:C0162670 semapv:UnspecifiedMatching -DOID:699 mitochondrial myopathy skos:exactMatch OMIM:251900 semapv:UnspecifiedMatching DOID:6992 intraocular mixed cell type melanoma oboInOwl:hasDbXref NCI:C7989 semapv:UnspecifiedMatching DOID:6992 intraocular mixed cell type melanoma oboInOwl:hasDbXref UMLS:C0279693 semapv:UnspecifiedMatching DOID:6993 iris mixed cell melanoma oboInOwl:hasDbXref NCI:C6101 semapv:UnspecifiedMatching @@ -34506,10 +23451,8 @@ DOID:700 mitochondrial metabolism disease oboInOwl:hasDbXref UMLS:C0751651 semap DOID:7004 ACTH-secreting pituitary adenoma oboInOwl:hasDbXref GARD:12867 semapv:UnspecifiedMatching DOID:7004 ACTH-secreting pituitary adenoma oboInOwl:hasDbXref MESH:D049913 semapv:UnspecifiedMatching DOID:7004 ACTH-secreting pituitary adenoma oboInOwl:hasDbXref NCI:C7462 semapv:UnspecifiedMatching -DOID:7004 ACTH-secreting pituitary adenoma oboInOwl:hasDbXref OMIM:219090 semapv:UnspecifiedMatching DOID:7004 ACTH-secreting pituitary adenoma oboInOwl:hasDbXref UMLS:C1306214 semapv:UnspecifiedMatching DOID:7004 ACTH-secreting pituitary adenoma skos:exactMatch MESH:D049913 semapv:UnspecifiedMatching -DOID:7004 ACTH-secreting pituitary adenoma skos:exactMatch OMIM:219090 semapv:UnspecifiedMatching DOID:7005 gemistocytic astrocytoma oboInOwl:hasDbXref ICDO:9411/3 semapv:UnspecifiedMatching DOID:7005 gemistocytic astrocytoma oboInOwl:hasDbXref MESH:D001254 semapv:UnspecifiedMatching DOID:7005 gemistocytic astrocytoma oboInOwl:hasDbXref NCI:C4321 semapv:UnspecifiedMatching @@ -34523,8 +23466,6 @@ DOID:7008 protoplasmic astrocytoma oboInOwl:hasDbXref NCI:C4320 semapv:Unspecifi DOID:7008 protoplasmic astrocytoma oboInOwl:hasDbXref UMLS:C0334580 semapv:UnspecifiedMatching DOID:701 dentin dysplasia oboInOwl:hasDbXref ICD10CM:K00.5 semapv:UnspecifiedMatching DOID:701 dentin dysplasia oboInOwl:hasDbXref MESH:D003805 semapv:UnspecifiedMatching -DOID:701 dentin dysplasia oboInOwl:hasDbXref OMIM:125400 semapv:UnspecifiedMatching -DOID:701 dentin dysplasia oboInOwl:hasDbXref OMIM:125420 semapv:UnspecifiedMatching DOID:701 dentin dysplasia oboInOwl:hasDbXref ORDO:1635 semapv:UnspecifiedMatching DOID:701 dentin dysplasia oboInOwl:hasDbXref UMLS:C0011430 semapv:UnspecifiedMatching DOID:7013 ovarian mucinous cystadenofibroma oboInOwl:hasDbXref NCI:C40041 semapv:UnspecifiedMatching @@ -34572,9 +23513,7 @@ DOID:705 Leber hereditary optic neuropathy oboInOwl:hasDbXref GARD:6870 semapv:U DOID:705 Leber hereditary optic neuropathy oboInOwl:hasDbXref ICD10CM:H47.22 semapv:UnspecifiedMatching DOID:705 Leber hereditary optic neuropathy oboInOwl:hasDbXref MESH:D029242 semapv:UnspecifiedMatching DOID:705 Leber hereditary optic neuropathy oboInOwl:hasDbXref NCI:C84808 semapv:UnspecifiedMatching -DOID:705 Leber hereditary optic neuropathy oboInOwl:hasDbXref OMIM:535000 semapv:UnspecifiedMatching DOID:705 Leber hereditary optic neuropathy oboInOwl:hasDbXref UMLS:C0917796 semapv:UnspecifiedMatching -DOID:705 Leber hereditary optic neuropathy skos:exactMatch OMIM:535000 semapv:UnspecifiedMatching DOID:7050 thymus basaloid carcinoma oboInOwl:hasDbXref NCI:C6456 semapv:UnspecifiedMatching DOID:7050 thymus basaloid carcinoma oboInOwl:hasDbXref UMLS:C1332464 semapv:UnspecifiedMatching DOID:7051 esophageal basaloid squamous cell carcinoma oboInOwl:hasDbXref NCI:C7032 semapv:UnspecifiedMatching @@ -34664,19 +23603,15 @@ DOID:7147 ankylosing spondylitis oboInOwl:hasDbXref ICD10CM:M45 semapv:Unspecifi DOID:7147 ankylosing spondylitis oboInOwl:hasDbXref ICD9CM:720.0 semapv:UnspecifiedMatching DOID:7147 ankylosing spondylitis oboInOwl:hasDbXref MESH:D013167 semapv:UnspecifiedMatching DOID:7147 ankylosing spondylitis oboInOwl:hasDbXref NCI:C84564 semapv:UnspecifiedMatching -DOID:7147 ankylosing spondylitis oboInOwl:hasDbXref OMIMPS:106300 semapv:UnspecifiedMatching DOID:7147 ankylosing spondylitis oboInOwl:hasDbXref ORDO:825 semapv:UnspecifiedMatching DOID:7147 ankylosing spondylitis oboInOwl:hasDbXref UMLS:C0038013 semapv:UnspecifiedMatching -DOID:7147 ankylosing spondylitis skos:exactMatch OMIMPS:106300 semapv:UnspecifiedMatching DOID:7148 rheumatoid arthritis oboInOwl:hasDbXref EFO:0000685 semapv:UnspecifiedMatching DOID:7148 rheumatoid arthritis oboInOwl:hasDbXref ICD10CM:M06.9 semapv:UnspecifiedMatching DOID:7148 rheumatoid arthritis oboInOwl:hasDbXref ICD9CM:714.0 semapv:UnspecifiedMatching DOID:7148 rheumatoid arthritis oboInOwl:hasDbXref KEGG:05323 semapv:UnspecifiedMatching DOID:7148 rheumatoid arthritis oboInOwl:hasDbXref MESH:D001172 semapv:UnspecifiedMatching DOID:7148 rheumatoid arthritis oboInOwl:hasDbXref NCI:C2884 semapv:UnspecifiedMatching -DOID:7148 rheumatoid arthritis oboInOwl:hasDbXref OMIM:180300 semapv:UnspecifiedMatching DOID:7148 rheumatoid arthritis oboInOwl:hasDbXref UMLS:C0003873 semapv:UnspecifiedMatching -DOID:7148 rheumatoid arthritis skos:exactMatch OMIM:180300 semapv:UnspecifiedMatching DOID:7152 prostate stromal sarcoma oboInOwl:hasDbXref NCI:C5524 semapv:UnspecifiedMatching DOID:7152 prostate stromal sarcoma oboInOwl:hasDbXref UMLS:C1335521 semapv:UnspecifiedMatching DOID:7154 anaplastic oligodendroglioma oboInOwl:hasDbXref NCI:C4326 semapv:UnspecifiedMatching @@ -34711,9 +23646,7 @@ DOID:718 autoimmune hemolytic anemia oboInOwl:hasDbXref GARD:5870 semapv:Unspeci DOID:718 autoimmune hemolytic anemia oboInOwl:hasDbXref ICD9CM:283.0 semapv:UnspecifiedMatching DOID:718 autoimmune hemolytic anemia oboInOwl:hasDbXref MESH:D000744 semapv:UnspecifiedMatching DOID:718 autoimmune hemolytic anemia oboInOwl:hasDbXref NCI:C34378 semapv:UnspecifiedMatching -DOID:718 autoimmune hemolytic anemia oboInOwl:hasDbXref OMIM:205700 semapv:UnspecifiedMatching DOID:718 autoimmune hemolytic anemia oboInOwl:hasDbXref UMLS:C0002880 semapv:UnspecifiedMatching -DOID:718 autoimmune hemolytic anemia skos:exactMatch OMIM:205700 semapv:UnspecifiedMatching DOID:7181 benign dermal neurilemmoma oboInOwl:hasDbXref NCI:C5569 semapv:UnspecifiedMatching DOID:7181 benign dermal neurilemmoma oboInOwl:hasDbXref UMLS:C1332490 semapv:UnspecifiedMatching DOID:7187 subacute lymphocytic thyroiditis oboInOwl:hasDbXref NCI:C35829 semapv:UnspecifiedMatching @@ -34908,10 +23841,8 @@ DOID:74 hematopoietic system disease oboInOwl:hasDbXref UMLS:C0018939 semapv:Uns DOID:7400 Nijmegen breakage syndrome oboInOwl:hasDbXref GARD:3904 semapv:UnspecifiedMatching DOID:7400 Nijmegen breakage syndrome oboInOwl:hasDbXref MESH:D049932 semapv:UnspecifiedMatching DOID:7400 Nijmegen breakage syndrome oboInOwl:hasDbXref NCI:C4692 semapv:UnspecifiedMatching -DOID:7400 Nijmegen breakage syndrome oboInOwl:hasDbXref OMIM:251260 semapv:UnspecifiedMatching DOID:7400 Nijmegen breakage syndrome oboInOwl:hasDbXref ORDO:647 semapv:UnspecifiedMatching DOID:7400 Nijmegen breakage syndrome oboInOwl:hasDbXref UMLS:C0398791 semapv:UnspecifiedMatching -DOID:7400 Nijmegen breakage syndrome skos:exactMatch OMIM:251260 semapv:UnspecifiedMatching DOID:7401 colonic L-cell glucagon-like peptide producing tumor oboInOwl:hasDbXref NCI:C27447 semapv:UnspecifiedMatching DOID:7401 colonic L-cell glucagon-like peptide producing tumor oboInOwl:hasDbXref UMLS:C3274139 semapv:UnspecifiedMatching DOID:7402 L-cell glucagon-like peptide producing tumor oboInOwl:hasDbXref NCI:C27448 semapv:UnspecifiedMatching @@ -34940,9 +23871,7 @@ DOID:7429 childhood brain germinoma oboInOwl:hasDbXref UMLS:C1332948 semapv:Unsp DOID:743 dermatographia oboInOwl:hasDbXref ICD10CM:L50.3 semapv:UnspecifiedMatching DOID:743 dermatographia oboInOwl:hasDbXref ICD9CM:708.3 semapv:UnspecifiedMatching DOID:743 dermatographia oboInOwl:hasDbXref NCI:C111885 semapv:UnspecifiedMatching -DOID:743 dermatographia oboInOwl:hasDbXref OMIM:125635 semapv:UnspecifiedMatching DOID:743 dermatographia oboInOwl:hasDbXref UMLS:C0343065 semapv:UnspecifiedMatching -DOID:743 dermatographia skos:exactMatch OMIM:125635 semapv:UnspecifiedMatching DOID:7430 childhood germ cell brain tumor oboInOwl:hasDbXref NCI:C5795 semapv:UnspecifiedMatching DOID:7430 childhood germ cell brain tumor oboInOwl:hasDbXref UMLS:C1377598 semapv:UnspecifiedMatching DOID:7435 polyvesicular vitelline pattern testicular yolk sac tumor oboInOwl:hasDbXref NCI:C39930 semapv:UnspecifiedMatching @@ -35109,9 +24038,7 @@ DOID:758 situs inversus oboInOwl:hasDbXref ICD10CM:Q89.3 semapv:UnspecifiedMatch DOID:758 situs inversus oboInOwl:hasDbXref ICD9CM:759.3 semapv:UnspecifiedMatching DOID:758 situs inversus oboInOwl:hasDbXref MESH:D012857 semapv:UnspecifiedMatching DOID:758 situs inversus oboInOwl:hasDbXref NCI:C87121 semapv:UnspecifiedMatching -DOID:758 situs inversus oboInOwl:hasDbXref OMIM:270100 semapv:UnspecifiedMatching DOID:758 situs inversus oboInOwl:hasDbXref UMLS:C0037221 semapv:UnspecifiedMatching -DOID:758 situs inversus skos:exactMatch OMIM:270100 semapv:UnspecifiedMatching DOID:7583 glottis verrucous carcinoma oboInOwl:hasDbXref NCI:C8189 semapv:UnspecifiedMatching DOID:7583 glottis verrucous carcinoma oboInOwl:hasDbXref UMLS:C0280329 semapv:UnspecifiedMatching DOID:7584 subglottis verrucous carcinoma oboInOwl:hasDbXref NCI:C8190 semapv:UnspecifiedMatching @@ -35204,9 +24131,7 @@ DOID:768 retinoblastoma oboInOwl:hasDbXref GARD:7563 semapv:UnspecifiedMatching DOID:768 retinoblastoma oboInOwl:hasDbXref ICDO:9510/3 semapv:UnspecifiedMatching DOID:768 retinoblastoma oboInOwl:hasDbXref MESH:D012175 semapv:UnspecifiedMatching DOID:768 retinoblastoma oboInOwl:hasDbXref NCI:C7541 semapv:UnspecifiedMatching -DOID:768 retinoblastoma oboInOwl:hasDbXref OMIM:180200 semapv:UnspecifiedMatching DOID:768 retinoblastoma oboInOwl:hasDbXref UMLS:C0035335 semapv:UnspecifiedMatching -DOID:768 retinoblastoma skos:exactMatch OMIM:180200 semapv:UnspecifiedMatching DOID:7684 maxillary sinus adenocarcinoma oboInOwl:hasDbXref NCI:C6240 semapv:UnspecifiedMatching DOID:7684 maxillary sinus adenocarcinoma oboInOwl:hasDbXref UMLS:C1334642 semapv:UnspecifiedMatching DOID:7685 pancreatic non-invasive intraductal papillary-mucinous carcinoma oboInOwl:hasDbXref NCI:C41251 semapv:UnspecifiedMatching @@ -35224,10 +24149,6 @@ DOID:7693 abdominal aortic aneurysm oboInOwl:hasDbXref EFO:0004214 semapv:Unspec DOID:7693 abdominal aortic aneurysm oboInOwl:hasDbXref GARD:9181 semapv:UnspecifiedMatching DOID:7693 abdominal aortic aneurysm oboInOwl:hasDbXref MESH:D017544 semapv:UnspecifiedMatching DOID:7693 abdominal aortic aneurysm oboInOwl:hasDbXref NCI:C27000 semapv:UnspecifiedMatching -DOID:7693 abdominal aortic aneurysm oboInOwl:hasDbXref OMIM:100070 semapv:UnspecifiedMatching -DOID:7693 abdominal aortic aneurysm oboInOwl:hasDbXref OMIM:609782 semapv:UnspecifiedMatching -DOID:7693 abdominal aortic aneurysm oboInOwl:hasDbXref OMIM:611891 semapv:UnspecifiedMatching -DOID:7693 abdominal aortic aneurysm oboInOwl:hasDbXref OMIM:614375 semapv:UnspecifiedMatching DOID:7693 abdominal aortic aneurysm oboInOwl:hasDbXref UMLS:C0162871 semapv:UnspecifiedMatching DOID:7694 bladder urachal adenocarcinoma oboInOwl:hasDbXref NCI:C39843 semapv:UnspecifiedMatching DOID:7694 bladder urachal adenocarcinoma oboInOwl:hasDbXref UMLS:C1511204 semapv:UnspecifiedMatching @@ -35293,9 +24214,7 @@ DOID:7765 Coats disease oboInOwl:hasDbXref GARD:6121 semapv:UnspecifiedMatching DOID:7765 Coats disease oboInOwl:hasDbXref ICD10CM:H35.02 semapv:UnspecifiedMatching DOID:7765 Coats disease oboInOwl:hasDbXref ICD9CM:362.12 semapv:UnspecifiedMatching DOID:7765 Coats disease oboInOwl:hasDbXref MESH:D058456 semapv:UnspecifiedMatching -DOID:7765 Coats disease oboInOwl:hasDbXref OMIM:300216 semapv:UnspecifiedMatching DOID:7765 Coats disease oboInOwl:hasDbXref UMLS:C0154832 semapv:UnspecifiedMatching -DOID:7765 Coats disease skos:exactMatch OMIM:300216 semapv:UnspecifiedMatching DOID:778 delusional disorder oboInOwl:hasDbXref ICD10CM:F22 semapv:UnspecifiedMatching DOID:778 delusional disorder oboInOwl:hasDbXref ICD9CM:297.1 semapv:UnspecifiedMatching DOID:778 delusional disorder oboInOwl:hasDbXref MESH:D012563 semapv:UnspecifiedMatching @@ -35455,9 +24374,7 @@ DOID:7986 cerebral falx meningioma oboInOwl:hasDbXref UMLS:C1333597 semapv:Unspe DOID:799 varicose veins oboInOwl:hasDbXref ICD10CM:I83.90 semapv:UnspecifiedMatching DOID:799 varicose veins oboInOwl:hasDbXref MESH:D014648 semapv:UnspecifiedMatching DOID:799 varicose veins oboInOwl:hasDbXref NCI:C35114 semapv:UnspecifiedMatching -DOID:799 varicose veins oboInOwl:hasDbXref OMIM:192200 semapv:UnspecifiedMatching DOID:799 varicose veins oboInOwl:hasDbXref UMLS:C0042345 semapv:UnspecifiedMatching -DOID:799 varicose veins skos:exactMatch OMIM:192200 semapv:UnspecifiedMatching DOID:7994 central nervous system osteosarcoma oboInOwl:hasDbXref NCI:C7002 semapv:UnspecifiedMatching DOID:7994 central nervous system osteosarcoma oboInOwl:hasDbXref UMLS:C1335150 semapv:UnspecifiedMatching DOID:7996 familial glomangioma oboInOwl:hasDbXref NCI:C5350 semapv:UnspecifiedMatching @@ -35638,14 +24555,10 @@ DOID:8153 fibroosseous pseudotumor of digits oboInOwl:hasDbXref NCI:C6573 semapv DOID:8153 fibroosseous pseudotumor of digits oboInOwl:hasDbXref UMLS:C1333612 semapv:UnspecifiedMatching DOID:8158 complement component 5 deficiency oboInOwl:hasDbXref MESH:C537005 semapv:UnspecifiedMatching DOID:8158 complement component 5 deficiency oboInOwl:hasDbXref NCI:C9469 semapv:UnspecifiedMatching -DOID:8158 complement component 5 deficiency oboInOwl:hasDbXref OMIM:609536 semapv:UnspecifiedMatching DOID:8158 complement component 5 deficiency oboInOwl:hasDbXref ORDO:169150 semapv:UnspecifiedMatching -DOID:8158 complement component 5 deficiency skos:exactMatch OMIM:609536 semapv:UnspecifiedMatching DOID:8161 thyroid gland Hurthle cell carcinoma oboInOwl:hasDbXref MESH:C536913 semapv:UnspecifiedMatching DOID:8161 thyroid gland Hurthle cell carcinoma oboInOwl:hasDbXref NCI:C4946 semapv:UnspecifiedMatching -DOID:8161 thyroid gland Hurthle cell carcinoma oboInOwl:hasDbXref OMIM:607464 semapv:UnspecifiedMatching DOID:8161 thyroid gland Hurthle cell carcinoma oboInOwl:hasDbXref UMLS:C0749424 semapv:UnspecifiedMatching -DOID:8161 thyroid gland Hurthle cell carcinoma skos:exactMatch OMIM:607464 semapv:UnspecifiedMatching DOID:8162 thyroid Hurthle cell adenoma oboInOwl:hasDbXref NCI:C6042 semapv:UnspecifiedMatching DOID:8162 thyroid Hurthle cell adenoma oboInOwl:hasDbXref UMLS:C1336750 semapv:UnspecifiedMatching DOID:8167 gallbladder melanoma oboInOwl:hasDbXref NCI:C5735 semapv:UnspecifiedMatching @@ -35761,8 +24674,6 @@ DOID:8295 scabies oboInOwl:hasDbXref UMLS:C0036262 semapv:UnspecifiedMatching DOID:8295 scabies skos:exactMatch MESH:D012532 semapv:UnspecifiedMatching DOID:83 cataract oboInOwl:hasDbXref ICD10CM:H26 semapv:UnspecifiedMatching DOID:83 cataract oboInOwl:hasDbXref ICD9CM:366.8 semapv:UnspecifiedMatching -DOID:83 cataract oboInOwl:hasDbXref OMIM:601371 semapv:UnspecifiedMatching -DOID:83 cataract oboInOwl:hasDbXref OMIMPS:116200 semapv:UnspecifiedMatching DOID:83 cataract oboInOwl:hasDbXref UMLS:C0029531 semapv:UnspecifiedMatching DOID:83 cataract skos:exactMatch MESH:D002386 semapv:UnspecifiedMatching DOID:8302 mixed endometrial stromal and smooth muscle tumor oboInOwl:hasDbXref NCI:C40178 semapv:UnspecifiedMatching @@ -35800,10 +24711,8 @@ DOID:8352 aortic malignant tumor oboInOwl:hasDbXref UMLS:C1334560 semapv:Unspeci DOID:8353 epithelioid malignant peripheral nerve sheath tumor oboInOwl:hasDbXref NCI:C6561 semapv:UnspecifiedMatching DOID:8353 epithelioid malignant peripheral nerve sheath tumor oboInOwl:hasDbXref UMLS:C1321427 semapv:UnspecifiedMatching DOID:8354 complement component 3 deficiency oboInOwl:hasDbXref NCI:C9468 semapv:UnspecifiedMatching -DOID:8354 complement component 3 deficiency oboInOwl:hasDbXref OMIM:613779 semapv:UnspecifiedMatching DOID:8354 complement component 3 deficiency oboInOwl:hasDbXref ORDO:280133 semapv:UnspecifiedMatching DOID:8354 complement component 3 deficiency oboInOwl:hasDbXref UMLS:C1332655 semapv:UnspecifiedMatching -DOID:8354 complement component 3 deficiency skos:exactMatch OMIM:613779 semapv:UnspecifiedMatching DOID:8358 pseudoglandular variant testicular seminoma oboInOwl:hasDbXref NCI:C40958 semapv:UnspecifiedMatching DOID:8358 pseudoglandular variant testicular seminoma oboInOwl:hasDbXref UMLS:C1515293 semapv:UnspecifiedMatching DOID:8361 glassy cell variant cervical adenosquamous carcinoma oboInOwl:hasDbXref NCI:C40212 semapv:UnspecifiedMatching @@ -35834,10 +24743,8 @@ DOID:84 osteochondritis dissecans oboInOwl:hasDbXref MESH:D010007 semapv:Unspeci DOID:84 osteochondritis dissecans oboInOwl:hasDbXref MESH:D010008 semapv:UnspecifiedMatching DOID:84 osteochondritis dissecans oboInOwl:hasDbXref NCI:C34877 semapv:UnspecifiedMatching DOID:84 osteochondritis dissecans oboInOwl:hasDbXref NCI:C34878 semapv:UnspecifiedMatching -DOID:84 osteochondritis dissecans oboInOwl:hasDbXref OMIM:165800 semapv:UnspecifiedMatching DOID:84 osteochondritis dissecans oboInOwl:hasDbXref UMLS:C0029420 semapv:UnspecifiedMatching DOID:84 osteochondritis dissecans oboInOwl:hasDbXref UMLS:C0029421 semapv:UnspecifiedMatching -DOID:84 osteochondritis dissecans skos:exactMatch OMIM:165800 semapv:UnspecifiedMatching DOID:840 cork-handlers' disease oboInOwl:hasDbXref ICD10CM:J67.3 semapv:UnspecifiedMatching DOID:840 cork-handlers' disease oboInOwl:hasDbXref ICD9CM:495.3 semapv:UnspecifiedMatching DOID:840 cork-handlers' disease oboInOwl:hasDbXref UMLS:C0152108 semapv:UnspecifiedMatching @@ -35905,16 +24812,12 @@ DOID:8445 intestinal volvulus oboInOwl:hasDbXref ICD10CM:K56.2 semapv:Unspecifie DOID:8445 intestinal volvulus oboInOwl:hasDbXref ICD9CM:560.2 semapv:UnspecifiedMatching DOID:8445 intestinal volvulus oboInOwl:hasDbXref MESH:D045822 semapv:UnspecifiedMatching DOID:8445 intestinal volvulus oboInOwl:hasDbXref NCI:C98963 semapv:UnspecifiedMatching -DOID:8445 intestinal volvulus oboInOwl:hasDbXref OMIM:193250 semapv:UnspecifiedMatching DOID:8445 intestinal volvulus oboInOwl:hasDbXref UMLS:C0042961 semapv:UnspecifiedMatching -DOID:8445 intestinal volvulus skos:exactMatch OMIM:193250 semapv:UnspecifiedMatching DOID:8446 intussusception oboInOwl:hasDbXref ICD10CM:K56.1 semapv:UnspecifiedMatching DOID:8446 intussusception oboInOwl:hasDbXref ICD9CM:560.0 semapv:UnspecifiedMatching DOID:8446 intussusception oboInOwl:hasDbXref MESH:D007443 semapv:UnspecifiedMatching DOID:8446 intussusception oboInOwl:hasDbXref NCI:C113484 semapv:UnspecifiedMatching -DOID:8446 intussusception oboInOwl:hasDbXref OMIM:147710 semapv:UnspecifiedMatching DOID:8446 intussusception oboInOwl:hasDbXref UMLS:C0021933 semapv:UnspecifiedMatching -DOID:8446 intussusception skos:exactMatch OMIM:147710 semapv:UnspecifiedMatching DOID:8448 intestinal impaction oboInOwl:hasDbXref ICD10CM:K56.4 semapv:UnspecifiedMatching DOID:8448 intestinal impaction oboInOwl:hasDbXref ICD9CM:560.39 semapv:UnspecifiedMatching DOID:8448 intestinal impaction oboInOwl:hasDbXref UMLS:C0029640 semapv:UnspecifiedMatching @@ -35940,11 +24843,9 @@ DOID:8457 pellagra oboInOwl:hasDbXref UMLS:C0030783 semapv:UnspecifiedMatching DOID:8461 Aicardi syndrome oboInOwl:hasDbXref GARD:5764 semapv:UnspecifiedMatching DOID:8461 Aicardi syndrome oboInOwl:hasDbXref MESH:D058540 semapv:UnspecifiedMatching DOID:8461 Aicardi syndrome oboInOwl:hasDbXref NCI:C35256 semapv:UnspecifiedMatching -DOID:8461 Aicardi syndrome oboInOwl:hasDbXref OMIM:304050 semapv:UnspecifiedMatching DOID:8461 Aicardi syndrome oboInOwl:hasDbXref ORDO:50 semapv:UnspecifiedMatching DOID:8461 Aicardi syndrome oboInOwl:hasDbXref UMLS:C0175713 semapv:UnspecifiedMatching DOID:8461 Aicardi syndrome skos:exactMatch MESH:D058540 semapv:UnspecifiedMatching -DOID:8461 Aicardi syndrome skos:exactMatch OMIM:304050 semapv:UnspecifiedMatching DOID:8463 corneal ulcer oboInOwl:hasDbXref ICD10CM:H16.0 semapv:UnspecifiedMatching DOID:8463 corneal ulcer oboInOwl:hasDbXref ICD9CM:370.0 semapv:UnspecifiedMatching DOID:8463 corneal ulcer oboInOwl:hasDbXref MESH:D003320 semapv:UnspecifiedMatching @@ -36102,9 +25003,7 @@ DOID:8534 gastroesophageal reflux disease oboInOwl:hasDbXref ICD10CM:K21.9 semap DOID:8534 gastroesophageal reflux disease oboInOwl:hasDbXref ICD9CM:530.81 semapv:UnspecifiedMatching DOID:8534 gastroesophageal reflux disease oboInOwl:hasDbXref MESH:D005764 semapv:UnspecifiedMatching DOID:8534 gastroesophageal reflux disease oboInOwl:hasDbXref NCI:C26781 semapv:UnspecifiedMatching -DOID:8534 gastroesophageal reflux disease oboInOwl:hasDbXref OMIM:109350 semapv:UnspecifiedMatching DOID:8534 gastroesophageal reflux disease oboInOwl:hasDbXref UMLS:C0017168 semapv:UnspecifiedMatching -DOID:8534 gastroesophageal reflux disease skos:exactMatch OMIM:109350 semapv:UnspecifiedMatching DOID:8536 herpes zoster oboInOwl:hasDbXref ICD10CM:B02 semapv:UnspecifiedMatching DOID:8536 herpes zoster oboInOwl:hasDbXref ICD9CM:053 semapv:UnspecifiedMatching DOID:8536 herpes zoster oboInOwl:hasDbXref MESH:D006562 semapv:UnspecifiedMatching @@ -36113,9 +25012,7 @@ DOID:8536 herpes zoster oboInOwl:hasDbXref UMLS:C0019360 semapv:UnspecifiedMatch DOID:8538 reticulosarcoma oboInOwl:hasDbXref ICD9CM:200.0 semapv:UnspecifiedMatching DOID:8538 reticulosarcoma oboInOwl:hasDbXref MESH:D008228 semapv:UnspecifiedMatching DOID:8538 reticulosarcoma oboInOwl:hasDbXref NCI:C27824 semapv:UnspecifiedMatching -DOID:8538 reticulosarcoma oboInOwl:hasDbXref OMIM:267730 semapv:UnspecifiedMatching DOID:8538 reticulosarcoma oboInOwl:hasDbXref UMLS:C0024302 semapv:UnspecifiedMatching -DOID:8538 reticulosarcoma skos:exactMatch OMIM:267730 semapv:UnspecifiedMatching DOID:854 collagen disease oboInOwl:hasDbXref MESH:D003095 semapv:UnspecifiedMatching DOID:854 collagen disease oboInOwl:hasDbXref NCI:C27204 semapv:UnspecifiedMatching DOID:854 collagen disease oboInOwl:hasDbXref UMLS:C0009326 semapv:UnspecifiedMatching @@ -36141,10 +25038,8 @@ DOID:8545 malignant hyperthermia oboInOwl:hasDbXref ICD10CM:T88.3 semapv:Unspeci DOID:8545 malignant hyperthermia oboInOwl:hasDbXref ICD9CM:995.86 semapv:UnspecifiedMatching DOID:8545 malignant hyperthermia oboInOwl:hasDbXref MESH:D008305 semapv:UnspecifiedMatching DOID:8545 malignant hyperthermia oboInOwl:hasDbXref NCI:C84869 semapv:UnspecifiedMatching -DOID:8545 malignant hyperthermia oboInOwl:hasDbXref OMIMPS:145600 semapv:UnspecifiedMatching DOID:8545 malignant hyperthermia oboInOwl:hasDbXref ORDO:423 semapv:UnspecifiedMatching DOID:8545 malignant hyperthermia oboInOwl:hasDbXref UMLS:C0024591 semapv:UnspecifiedMatching -DOID:8545 malignant hyperthermia skos:exactMatch OMIMPS:145600 semapv:UnspecifiedMatching DOID:8549 chronic ulcer of skin oboInOwl:hasDbXref ICD10CM:L98.4 semapv:UnspecifiedMatching DOID:8549 chronic ulcer of skin oboInOwl:hasDbXref ICD9CM:707 semapv:UnspecifiedMatching DOID:8549 chronic ulcer of skin oboInOwl:hasDbXref UMLS:C0157738 semapv:UnspecifiedMatching @@ -36153,10 +25048,8 @@ DOID:8552 chronic myeloid leukemia oboInOwl:hasDbXref GARD:6105 semapv:Unspecifi DOID:8552 chronic myeloid leukemia oboInOwl:hasDbXref ICD9CM:205.1 semapv:UnspecifiedMatching DOID:8552 chronic myeloid leukemia oboInOwl:hasDbXref ICDO:9863/3 semapv:UnspecifiedMatching DOID:8552 chronic myeloid leukemia oboInOwl:hasDbXref KEGG:05220 semapv:UnspecifiedMatching -DOID:8552 chronic myeloid leukemia oboInOwl:hasDbXref OMIM:608232 semapv:UnspecifiedMatching DOID:8552 chronic myeloid leukemia oboInOwl:hasDbXref ORDO:521 semapv:UnspecifiedMatching DOID:8552 chronic myeloid leukemia oboInOwl:hasDbXref UMLS:C0023473 semapv:UnspecifiedMatching -DOID:8552 chronic myeloid leukemia skos:exactMatch OMIM:608232 semapv:UnspecifiedMatching DOID:8553 pyoderma gangrenosum oboInOwl:hasDbXref GARD:7510 semapv:UnspecifiedMatching DOID:8553 pyoderma gangrenosum oboInOwl:hasDbXref ICD10CM:L88 semapv:UnspecifiedMatching DOID:8553 pyoderma gangrenosum oboInOwl:hasDbXref ICD9CM:686.01 semapv:UnspecifiedMatching @@ -36183,9 +25076,7 @@ DOID:856 biotinidase deficiency oboInOwl:hasDbXref GARD:894 semapv:UnspecifiedMa DOID:856 biotinidase deficiency oboInOwl:hasDbXref ICD10CM:D81.810 semapv:UnspecifiedMatching DOID:856 biotinidase deficiency oboInOwl:hasDbXref MESH:D028921 semapv:UnspecifiedMatching DOID:856 biotinidase deficiency oboInOwl:hasDbXref NCI:C84598 semapv:UnspecifiedMatching -DOID:856 biotinidase deficiency oboInOwl:hasDbXref OMIM:253260 semapv:UnspecifiedMatching DOID:856 biotinidase deficiency oboInOwl:hasDbXref UMLS:C0220754 semapv:UnspecifiedMatching -DOID:856 biotinidase deficiency skos:exactMatch OMIM:253260 semapv:UnspecifiedMatching DOID:8564 lip cancer oboInOwl:hasDbXref ICD10CM:C00 semapv:UnspecifiedMatching DOID:8564 lip cancer oboInOwl:hasDbXref ICD9CM:140 semapv:UnspecifiedMatching DOID:8564 lip cancer oboInOwl:hasDbXref ICD9CM:140.6 semapv:UnspecifiedMatching @@ -36206,9 +25097,6 @@ DOID:8567 Hodgkin's lymphoma oboInOwl:hasDbXref ICD10CM:C81 semapv:UnspecifiedMa DOID:8567 Hodgkin's lymphoma oboInOwl:hasDbXref ICD9CM:201 semapv:UnspecifiedMatching DOID:8567 Hodgkin's lymphoma oboInOwl:hasDbXref MESH:D006689 semapv:UnspecifiedMatching DOID:8567 Hodgkin's lymphoma oboInOwl:hasDbXref NCI:C9357 semapv:UnspecifiedMatching -DOID:8567 Hodgkin's lymphoma oboInOwl:hasDbXref OMIM:236000 semapv:UnspecifiedMatching -DOID:8567 Hodgkin's lymphoma oboInOwl:hasDbXref OMIM:300221 semapv:UnspecifiedMatching -DOID:8567 Hodgkin's lymphoma oboInOwl:hasDbXref OMIM:400021 semapv:UnspecifiedMatching DOID:8567 Hodgkin's lymphoma oboInOwl:hasDbXref ORDO:98293 semapv:UnspecifiedMatching DOID:8567 Hodgkin's lymphoma oboInOwl:hasDbXref UMLS:C0019829 semapv:UnspecifiedMatching DOID:8567 Hodgkin's lymphoma skos:exactMatch MESH:D006689 semapv:UnspecifiedMatching @@ -36248,17 +25136,13 @@ DOID:8584 Burkitt lymphoma oboInOwl:hasDbXref ICD9CM:200.2 semapv:UnspecifiedMat DOID:8584 Burkitt lymphoma oboInOwl:hasDbXref ICDO:9687/3 semapv:UnspecifiedMatching DOID:8584 Burkitt lymphoma oboInOwl:hasDbXref MESH:D002051 semapv:UnspecifiedMatching DOID:8584 Burkitt lymphoma oboInOwl:hasDbXref NCI:C2912 semapv:UnspecifiedMatching -DOID:8584 Burkitt lymphoma oboInOwl:hasDbXref OMIM:113970 semapv:UnspecifiedMatching DOID:8584 Burkitt lymphoma oboInOwl:hasDbXref ORDO:543 semapv:UnspecifiedMatching DOID:8584 Burkitt lymphoma oboInOwl:hasDbXref UMLS:C0006413 semapv:UnspecifiedMatching -DOID:8584 Burkitt lymphoma skos:exactMatch OMIM:113970 semapv:UnspecifiedMatching DOID:859 holocarboxylase synthetase deficiency oboInOwl:hasDbXref GARD:2721 semapv:UnspecifiedMatching DOID:859 holocarboxylase synthetase deficiency oboInOwl:hasDbXref ICD10CM:D81.818 semapv:UnspecifiedMatching DOID:859 holocarboxylase synthetase deficiency oboInOwl:hasDbXref MESH:D028922 semapv:UnspecifiedMatching DOID:859 holocarboxylase synthetase deficiency oboInOwl:hasDbXref NCI:C98842 semapv:UnspecifiedMatching -DOID:859 holocarboxylase synthetase deficiency oboInOwl:hasDbXref OMIM:253270 semapv:UnspecifiedMatching DOID:859 holocarboxylase synthetase deficiency oboInOwl:hasDbXref UMLS:C0268581 semapv:UnspecifiedMatching -DOID:859 holocarboxylase synthetase deficiency skos:exactMatch OMIM:253270 semapv:UnspecifiedMatching DOID:8590 acute vascular insufficiency of intestine oboInOwl:hasDbXref ICD9CM:557.0 semapv:UnspecifiedMatching DOID:8590 acute vascular insufficiency of intestine oboInOwl:hasDbXref NCI:C34356 semapv:UnspecifiedMatching DOID:8590 acute vascular insufficiency of intestine oboInOwl:hasDbXref UMLS:C0001363 semapv:UnspecifiedMatching @@ -36289,9 +25173,7 @@ DOID:8616 Peyronie's disease oboInOwl:hasDbXref ICD10CM:N48.6 semapv:Unspecified DOID:8616 Peyronie's disease oboInOwl:hasDbXref ICD9CM:607.85 semapv:UnspecifiedMatching DOID:8616 Peyronie's disease oboInOwl:hasDbXref MESH:D010411 semapv:UnspecifiedMatching DOID:8616 Peyronie's disease oboInOwl:hasDbXref NCI:C3316 semapv:UnspecifiedMatching -DOID:8616 Peyronie's disease oboInOwl:hasDbXref OMIM:171000 semapv:UnspecifiedMatching DOID:8616 Peyronie's disease oboInOwl:hasDbXref UMLS:C0030848 semapv:UnspecifiedMatching -DOID:8616 Peyronie's disease skos:exactMatch OMIM:171000 semapv:UnspecifiedMatching DOID:8618 oral cavity cancer oboInOwl:hasDbXref GARD:9360 semapv:UnspecifiedMatching DOID:8618 oral cavity cancer oboInOwl:hasDbXref ICD10CM:C04 semapv:UnspecifiedMatching DOID:8618 oral cavity cancer oboInOwl:hasDbXref ICD10CM:C04.0 semapv:UnspecifiedMatching @@ -36528,9 +25410,7 @@ DOID:8691 mycosis fungoides oboInOwl:hasDbXref ICD9CM:202.1 semapv:UnspecifiedMa DOID:8691 mycosis fungoides oboInOwl:hasDbXref ICDO:9700/3 semapv:UnspecifiedMatching DOID:8691 mycosis fungoides oboInOwl:hasDbXref MESH:D009182 semapv:UnspecifiedMatching DOID:8691 mycosis fungoides oboInOwl:hasDbXref NCI:C3246 semapv:UnspecifiedMatching -DOID:8691 mycosis fungoides oboInOwl:hasDbXref OMIM:254400 semapv:UnspecifiedMatching DOID:8691 mycosis fungoides oboInOwl:hasDbXref UMLS:C0026948 semapv:UnspecifiedMatching -DOID:8691 mycosis fungoides skos:exactMatch OMIM:254400 semapv:UnspecifiedMatching DOID:8692 myeloid leukemia oboInOwl:hasDbXref GARD:8226 semapv:UnspecifiedMatching DOID:8692 myeloid leukemia oboInOwl:hasDbXref ICD10CM:C92 semapv:UnspecifiedMatching DOID:8692 myeloid leukemia oboInOwl:hasDbXref ICD9CM:205 semapv:UnspecifiedMatching @@ -36627,9 +25507,7 @@ DOID:8757 gastric mucosal hypertrophy oboInOwl:hasDbXref ICD10CM:K29.6 semapv:Un DOID:8757 gastric mucosal hypertrophy oboInOwl:hasDbXref ICD9CM:535.2 semapv:UnspecifiedMatching DOID:8757 gastric mucosal hypertrophy oboInOwl:hasDbXref MESH:D005758 semapv:UnspecifiedMatching DOID:8757 gastric mucosal hypertrophy oboInOwl:hasDbXref NCI:C67277 semapv:UnspecifiedMatching -DOID:8757 gastric mucosal hypertrophy oboInOwl:hasDbXref OMIM:137280 semapv:UnspecifiedMatching DOID:8757 gastric mucosal hypertrophy oboInOwl:hasDbXref UMLS:C0017155 semapv:UnspecifiedMatching -DOID:8757 gastric mucosal hypertrophy skos:exactMatch OMIM:137280 semapv:UnspecifiedMatching DOID:876 pyomyositis oboInOwl:hasDbXref GARD:4614 semapv:UnspecifiedMatching DOID:876 pyomyositis oboInOwl:hasDbXref ICD10CM:M60.0 semapv:UnspecifiedMatching DOID:876 pyomyositis oboInOwl:hasDbXref ICD9CM:040.81 semapv:UnspecifiedMatching @@ -36735,9 +25613,7 @@ DOID:8864 acute monocytic leukemia oboInOwl:hasDbXref GARD:525 semapv:Unspecifie DOID:8864 acute monocytic leukemia oboInOwl:hasDbXref ICD9CM:206.0 semapv:UnspecifiedMatching DOID:8864 acute monocytic leukemia oboInOwl:hasDbXref ICDO:9891/3 semapv:UnspecifiedMatching DOID:8864 acute monocytic leukemia oboInOwl:hasDbXref MESH:D007948 semapv:UnspecifiedMatching -DOID:8864 acute monocytic leukemia oboInOwl:hasDbXref OMIM:151380 semapv:UnspecifiedMatching DOID:8864 acute monocytic leukemia oboInOwl:hasDbXref UMLS:C0023465 semapv:UnspecifiedMatching -DOID:8864 acute monocytic leukemia skos:exactMatch OMIM:151380 semapv:UnspecifiedMatching DOID:8866 actinic keratosis oboInOwl:hasDbXref ICD10CM:L57.0 semapv:UnspecifiedMatching DOID:8866 actinic keratosis oboInOwl:hasDbXref ICD9CM:702.0 semapv:UnspecifiedMatching DOID:8866 actinic keratosis oboInOwl:hasDbXref ICDO:8070/0 semapv:UnspecifiedMatching @@ -36789,16 +25665,12 @@ DOID:8893 psoriasis oboInOwl:hasDbXref GARD:10262 semapv:UnspecifiedMatching DOID:8893 psoriasis oboInOwl:hasDbXref ICD10CM:L40 semapv:UnspecifiedMatching DOID:8893 psoriasis oboInOwl:hasDbXref MESH:D011565 semapv:UnspecifiedMatching DOID:8893 psoriasis oboInOwl:hasDbXref NCI:C3346 semapv:UnspecifiedMatching -DOID:8893 psoriasis oboInOwl:hasDbXref OMIMPS:177900 semapv:UnspecifiedMatching DOID:8893 psoriasis oboInOwl:hasDbXref UMLS:C0033860 semapv:UnspecifiedMatching -DOID:8893 psoriasis skos:exactMatch OMIMPS:177900 semapv:UnspecifiedMatching DOID:890 mitochondrial encephalomyopathy oboInOwl:hasDbXref MESH:D017237 semapv:UnspecifiedMatching DOID:890 mitochondrial encephalomyopathy oboInOwl:hasDbXref UMLS:C0162666 semapv:UnspecifiedMatching DOID:891 progressive myoclonus epilepsy oboInOwl:hasDbXref GARD:7140 semapv:UnspecifiedMatching DOID:891 progressive myoclonus epilepsy oboInOwl:hasDbXref MESH:D020191 semapv:UnspecifiedMatching DOID:891 progressive myoclonus epilepsy oboInOwl:hasDbXref NCI:C7636 semapv:UnspecifiedMatching -DOID:891 progressive myoclonus epilepsy oboInOwl:hasDbXref OMIM:310370 semapv:UnspecifiedMatching -DOID:891 progressive myoclonus epilepsy oboInOwl:hasDbXref OMIMPS:254800 semapv:UnspecifiedMatching DOID:891 progressive myoclonus epilepsy oboInOwl:hasDbXref UMLS:C0751778 semapv:UnspecifiedMatching DOID:891 progressive myoclonus epilepsy skos:exactMatch NCI:C7636 semapv:UnspecifiedMatching DOID:8912 tinea nigra oboInOwl:hasDbXref ICD10CM:B36.1 semapv:UnspecifiedMatching @@ -36817,16 +25689,12 @@ DOID:8923 skin melanoma oboInOwl:hasDbXref ICD10CM:C43.9 semapv:UnspecifiedMatch DOID:8923 skin melanoma oboInOwl:hasDbXref ICD9CM:172.9 semapv:UnspecifiedMatching DOID:8923 skin melanoma oboInOwl:hasDbXref MESH:C562393 semapv:UnspecifiedMatching DOID:8923 skin melanoma oboInOwl:hasDbXref NCI:C3510 semapv:UnspecifiedMatching -DOID:8923 skin melanoma oboInOwl:hasDbXref OMIM:608035 semapv:UnspecifiedMatching -DOID:8923 skin melanoma oboInOwl:hasDbXref OMIM:612263 semapv:UnspecifiedMatching DOID:8923 skin melanoma oboInOwl:hasDbXref UMLS:C0151779 semapv:UnspecifiedMatching DOID:8924 autoimmune thrombocytopenic purpura oboInOwl:hasDbXref ICD10CM:D69.3 semapv:UnspecifiedMatching DOID:8924 autoimmune thrombocytopenic purpura oboInOwl:hasDbXref ICD9CM:287.31 semapv:UnspecifiedMatching DOID:8924 autoimmune thrombocytopenic purpura oboInOwl:hasDbXref MESH:D016553 semapv:UnspecifiedMatching DOID:8924 autoimmune thrombocytopenic purpura oboInOwl:hasDbXref NCI:C3446 semapv:UnspecifiedMatching -DOID:8924 autoimmune thrombocytopenic purpura oboInOwl:hasDbXref OMIM:188030 semapv:UnspecifiedMatching DOID:8924 autoimmune thrombocytopenic purpura oboInOwl:hasDbXref UMLS:C0398650 semapv:UnspecifiedMatching -DOID:8924 autoimmune thrombocytopenic purpura skos:exactMatch OMIM:188030 semapv:UnspecifiedMatching DOID:8925 primary thrombocytopenia oboInOwl:hasDbXref ICD10CM:D69.4 semapv:UnspecifiedMatching DOID:8925 primary thrombocytopenia oboInOwl:hasDbXref ICD9CM:287.39 semapv:UnspecifiedMatching DOID:8925 primary thrombocytopenia oboInOwl:hasDbXref UMLS:C0477317 semapv:UnspecifiedMatching @@ -36844,9 +25712,7 @@ DOID:893 Wilson disease oboInOwl:hasDbXref GARD:7893 semapv:UnspecifiedMatching DOID:893 Wilson disease oboInOwl:hasDbXref ICD10CM:E83.01 semapv:UnspecifiedMatching DOID:893 Wilson disease oboInOwl:hasDbXref MESH:D006527 semapv:UnspecifiedMatching DOID:893 Wilson disease oboInOwl:hasDbXref NCI:C84756 semapv:UnspecifiedMatching -DOID:893 Wilson disease oboInOwl:hasDbXref OMIM:277900 semapv:UnspecifiedMatching DOID:893 Wilson disease oboInOwl:hasDbXref UMLS:C0019202 semapv:UnspecifiedMatching -DOID:893 Wilson disease skos:exactMatch OMIM:277900 semapv:UnspecifiedMatching DOID:8930 retromolar area cancer oboInOwl:hasDbXref ICD10CM:C06.2 semapv:UnspecifiedMatching DOID:8930 retromolar area cancer oboInOwl:hasDbXref ICD9CM:145.6 semapv:UnspecifiedMatching DOID:8930 retromolar area cancer oboInOwl:hasDbXref UMLS:C0153379 semapv:UnspecifiedMatching @@ -36869,8 +25735,6 @@ DOID:8941 seborrheic infantile dermatitis oboInOwl:hasDbXref ICD9CM:690.11 semap DOID:8941 seborrheic infantile dermatitis oboInOwl:hasDbXref MESH:D063807 semapv:UnspecifiedMatching DOID:8941 seborrheic infantile dermatitis oboInOwl:hasDbXref UMLS:C0221244 semapv:UnspecifiedMatching DOID:8943 lattice corneal dystrophy oboInOwl:hasDbXref MESH:C537935 semapv:UnspecifiedMatching -DOID:8943 lattice corneal dystrophy oboInOwl:hasDbXref OMIM:122200 semapv:UnspecifiedMatching -DOID:8943 lattice corneal dystrophy skos:exactMatch OMIM:122200 semapv:UnspecifiedMatching DOID:8946 severe nonproliferative diabetic retinopathy oboInOwl:hasDbXref ICD9CM:362.06 semapv:UnspecifiedMatching DOID:8946 severe nonproliferative diabetic retinopathy oboInOwl:hasDbXref UMLS:C0730278 semapv:UnspecifiedMatching DOID:8947 diabetic retinopathy oboInOwl:hasDbXref ICD9CM:362.0 semapv:UnspecifiedMatching @@ -36882,9 +25746,7 @@ DOID:8955 sideroblastic anemia oboInOwl:hasDbXref ICD10CM:D64.3 semapv:Unspecifi DOID:8955 sideroblastic anemia oboInOwl:hasDbXref ICD9CM:285.0 semapv:UnspecifiedMatching DOID:8955 sideroblastic anemia oboInOwl:hasDbXref MESH:D000756 semapv:UnspecifiedMatching DOID:8955 sideroblastic anemia oboInOwl:hasDbXref NCI:C36078 semapv:UnspecifiedMatching -DOID:8955 sideroblastic anemia oboInOwl:hasDbXref OMIMPS:300751 semapv:UnspecifiedMatching DOID:8955 sideroblastic anemia oboInOwl:hasDbXref UMLS:C0002896 semapv:UnspecifiedMatching -DOID:8955 sideroblastic anemia skos:exactMatch OMIMPS:300751 semapv:UnspecifiedMatching DOID:8956 cowpox oboInOwl:hasDbXref ICD10CM:B08.010 semapv:UnspecifiedMatching DOID:8956 cowpox oboInOwl:hasDbXref ICD9CM:051.01 semapv:UnspecifiedMatching DOID:8956 cowpox oboInOwl:hasDbXref MESH:D015605 semapv:UnspecifiedMatching @@ -36899,9 +25761,7 @@ DOID:8970 subacute sclerosing panencephalitis oboInOwl:hasDbXref ICD10CM:A81.1 s DOID:8970 subacute sclerosing panencephalitis oboInOwl:hasDbXref ICD9CM:046.2 semapv:UnspecifiedMatching DOID:8970 subacute sclerosing panencephalitis oboInOwl:hasDbXref MESH:D013344 semapv:UnspecifiedMatching DOID:8970 subacute sclerosing panencephalitis oboInOwl:hasDbXref NCI:C85171 semapv:UnspecifiedMatching -DOID:8970 subacute sclerosing panencephalitis oboInOwl:hasDbXref OMIM:260470 semapv:UnspecifiedMatching DOID:8970 subacute sclerosing panencephalitis oboInOwl:hasDbXref UMLS:C0038522 semapv:UnspecifiedMatching -DOID:8970 subacute sclerosing panencephalitis skos:exactMatch OMIM:260470 semapv:UnspecifiedMatching DOID:898 autosomal dominant polycystic kidney disease oboInOwl:hasDbXref GARD:7419 semapv:UnspecifiedMatching DOID:898 autosomal dominant polycystic kidney disease oboInOwl:hasDbXref ICD10CM:Q61.3 semapv:UnspecifiedMatching DOID:898 autosomal dominant polycystic kidney disease oboInOwl:hasDbXref ICD9CM:753.12 semapv:UnspecifiedMatching @@ -36914,23 +25774,14 @@ DOID:8986 narcolepsy oboInOwl:hasDbXref ICD10CM:G47.41 semapv:UnspecifiedMatchin DOID:8986 narcolepsy oboInOwl:hasDbXref ICD9CM:347.0 semapv:UnspecifiedMatching DOID:8986 narcolepsy oboInOwl:hasDbXref MESH:D009290 semapv:UnspecifiedMatching DOID:8986 narcolepsy oboInOwl:hasDbXref NCI:C84489 semapv:UnspecifiedMatching -DOID:8986 narcolepsy oboInOwl:hasDbXref OMIM:161400 semapv:UnspecifiedMatching -DOID:8986 narcolepsy oboInOwl:hasDbXref OMIM:605841 semapv:UnspecifiedMatching -DOID:8986 narcolepsy oboInOwl:hasDbXref OMIM:609039 semapv:UnspecifiedMatching -DOID:8986 narcolepsy oboInOwl:hasDbXref OMIM:612417 semapv:UnspecifiedMatching -DOID:8986 narcolepsy oboInOwl:hasDbXref OMIM:612851 semapv:UnspecifiedMatching -DOID:8986 narcolepsy oboInOwl:hasDbXref OMIM:614223 semapv:UnspecifiedMatching -DOID:8986 narcolepsy oboInOwl:hasDbXref OMIM:614250 semapv:UnspecifiedMatching DOID:8986 narcolepsy oboInOwl:hasDbXref ORDO:2073 semapv:UnspecifiedMatching DOID:8986 narcolepsy oboInOwl:hasDbXref UMLS:C0027404 semapv:UnspecifiedMatching DOID:899 choledochal cyst oboInOwl:hasDbXref GARD:9229 semapv:UnspecifiedMatching DOID:899 choledochal cyst oboInOwl:hasDbXref ICD10CM:Q44.4 semapv:UnspecifiedMatching DOID:899 choledochal cyst oboInOwl:hasDbXref MESH:D015529 semapv:UnspecifiedMatching DOID:899 choledochal cyst oboInOwl:hasDbXref NCI:C2943 semapv:UnspecifiedMatching -DOID:899 choledochal cyst oboInOwl:hasDbXref OMIM:603003 semapv:UnspecifiedMatching DOID:899 choledochal cyst oboInOwl:hasDbXref ORDO:480501 semapv:UnspecifiedMatching DOID:899 choledochal cyst oboInOwl:hasDbXref UMLS:C0008340 semapv:UnspecifiedMatching -DOID:899 choledochal cyst skos:exactMatch OMIM:603003 semapv:UnspecifiedMatching DOID:8991 cervix uteri carcinoma in situ oboInOwl:hasDbXref ICD10CM:D06 semapv:UnspecifiedMatching DOID:8991 cervix uteri carcinoma in situ oboInOwl:hasDbXref ICD9CM:233.1 semapv:UnspecifiedMatching DOID:8991 cervix uteri carcinoma in situ oboInOwl:hasDbXref MESH:D002578 semapv:UnspecifiedMatching @@ -36942,10 +25793,8 @@ DOID:8997 polycythemia vera oboInOwl:hasDbXref ICD9CM:238.4 semapv:UnspecifiedMa DOID:8997 polycythemia vera oboInOwl:hasDbXref ICDO:9950/3 semapv:UnspecifiedMatching DOID:8997 polycythemia vera oboInOwl:hasDbXref MESH:D011087 semapv:UnspecifiedMatching DOID:8997 polycythemia vera oboInOwl:hasDbXref NCI:C3336 semapv:UnspecifiedMatching -DOID:8997 polycythemia vera oboInOwl:hasDbXref OMIM:263300 semapv:UnspecifiedMatching DOID:8997 polycythemia vera oboInOwl:hasDbXref UMLS:C0032463 semapv:UnspecifiedMatching DOID:8997 polycythemia vera oboInOwl:hasDbXref UMLS:C0152272 semapv:UnspecifiedMatching -DOID:8997 polycythemia vera skos:exactMatch OMIM:263300 semapv:UnspecifiedMatching DOID:90 degenerative disc disease oboInOwl:hasDbXref EFO:0004994 semapv:UnspecifiedMatching DOID:90 degenerative disc disease oboInOwl:hasDbXref NCI:C27156 semapv:UnspecifiedMatching DOID:90 degenerative disc disease oboInOwl:hasDbXref UMLS:C0410606 semapv:UnspecifiedMatching @@ -36957,9 +25806,7 @@ DOID:9007 sudden infant death syndrome oboInOwl:hasDbXref GARD:7711 semapv:Unspe DOID:9007 sudden infant death syndrome oboInOwl:hasDbXref ICD9CM:798.0 semapv:UnspecifiedMatching DOID:9007 sudden infant death syndrome oboInOwl:hasDbXref MESH:D013398 semapv:UnspecifiedMatching DOID:9007 sudden infant death syndrome oboInOwl:hasDbXref NCI:C85173 semapv:UnspecifiedMatching -DOID:9007 sudden infant death syndrome oboInOwl:hasDbXref OMIM:272120 semapv:UnspecifiedMatching DOID:9007 sudden infant death syndrome oboInOwl:hasDbXref UMLS:C0038644 semapv:UnspecifiedMatching -DOID:9007 sudden infant death syndrome skos:exactMatch OMIM:272120 semapv:UnspecifiedMatching DOID:9008 psoriatic arthritis oboInOwl:hasDbXref EFO:0003778 semapv:UnspecifiedMatching DOID:9008 psoriatic arthritis oboInOwl:hasDbXref ICD10CM:L40.5 semapv:UnspecifiedMatching DOID:9008 psoriatic arthritis oboInOwl:hasDbXref ICD9CM:696.0 semapv:UnspecifiedMatching @@ -37037,18 +25884,6 @@ DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref ICD9CM:710.0 semapv:Un DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref KEGG:05322 semapv:UnspecifiedMatching DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref MESH:D008180 semapv:UnspecifiedMatching DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref NCI:C3201 semapv:UnspecifiedMatching -DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref OMIM:152700 semapv:UnspecifiedMatching -DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref OMIM:300809 semapv:UnspecifiedMatching -DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref OMIM:605480 semapv:UnspecifiedMatching -DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref OMIM:608437 semapv:UnspecifiedMatching -DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref OMIM:609903 semapv:UnspecifiedMatching -DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref OMIM:609939 semapv:UnspecifiedMatching -DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref OMIM:610065 semapv:UnspecifiedMatching -DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref OMIM:610066 semapv:UnspecifiedMatching -DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref OMIM:612254 semapv:UnspecifiedMatching -DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref OMIM:612378 semapv:UnspecifiedMatching -DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref OMIM:613145 semapv:UnspecifiedMatching -DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref OMIM:614420 semapv:UnspecifiedMatching DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref ORDO:536 semapv:UnspecifiedMatching DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref UMLS:C0024141 semapv:UnspecifiedMatching DOID:9076 discoid lupus erythematosus of eyelid oboInOwl:hasDbXref ICD10CM:H01.12 semapv:UnspecifiedMatching @@ -37100,9 +25935,7 @@ DOID:9119 acute myeloid leukemia oboInOwl:hasDbXref ICDO:9861/3 semapv:Unspecifi DOID:9119 acute myeloid leukemia oboInOwl:hasDbXref KEGG:05221 semapv:UnspecifiedMatching DOID:9119 acute myeloid leukemia oboInOwl:hasDbXref MESH:D015470 semapv:UnspecifiedMatching DOID:9119 acute myeloid leukemia oboInOwl:hasDbXref NCI:C3171 semapv:UnspecifiedMatching -DOID:9119 acute myeloid leukemia oboInOwl:hasDbXref OMIM:601626 semapv:UnspecifiedMatching DOID:9119 acute myeloid leukemia oboInOwl:hasDbXref UMLS:C0023467 semapv:UnspecifiedMatching -DOID:9119 acute myeloid leukemia skos:exactMatch OMIM:601626 semapv:UnspecifiedMatching DOID:9120 amyloidosis oboInOwl:hasDbXref ICD10CM:E85 semapv:UnspecifiedMatching DOID:9120 amyloidosis oboInOwl:hasDbXref ICD9CM:277.3 semapv:UnspecifiedMatching DOID:9120 amyloidosis oboInOwl:hasDbXref MESH:D000686 semapv:UnspecifiedMatching @@ -37139,9 +25972,6 @@ DOID:9146 visceral leishmaniasis oboInOwl:hasDbXref ICD10CM:B55.0 semapv:Unspeci DOID:9146 visceral leishmaniasis oboInOwl:hasDbXref ICD9CM:085.0 semapv:UnspecifiedMatching DOID:9146 visceral leishmaniasis oboInOwl:hasDbXref MESH:D007898 semapv:UnspecifiedMatching DOID:9146 visceral leishmaniasis oboInOwl:hasDbXref NCI:C34771 semapv:UnspecifiedMatching -DOID:9146 visceral leishmaniasis oboInOwl:hasDbXref OMIM:608207 semapv:UnspecifiedMatching -DOID:9146 visceral leishmaniasis oboInOwl:hasDbXref OMIM:611381 semapv:UnspecifiedMatching -DOID:9146 visceral leishmaniasis oboInOwl:hasDbXref OMIM:611382 semapv:UnspecifiedMatching DOID:9146 visceral leishmaniasis oboInOwl:hasDbXref UMLS:C0023290 semapv:UnspecifiedMatching DOID:9149 hard palate cancer oboInOwl:hasDbXref ICD10CM:C05.0 semapv:UnspecifiedMatching DOID:9149 hard palate cancer oboInOwl:hasDbXref ICD9CM:145.2 semapv:UnspecifiedMatching @@ -37167,9 +25997,7 @@ DOID:9164 achalasia oboInOwl:hasDbXref ICD10CM:K22.0 semapv:UnspecifiedMatching DOID:9164 achalasia oboInOwl:hasDbXref ICD9CM:530.0 semapv:UnspecifiedMatching DOID:9164 achalasia oboInOwl:hasDbXref MESH:D004931 semapv:UnspecifiedMatching DOID:9164 achalasia oboInOwl:hasDbXref NCI:C84699 semapv:UnspecifiedMatching -DOID:9164 achalasia oboInOwl:hasDbXref OMIM:200400 semapv:UnspecifiedMatching DOID:9164 achalasia oboInOwl:hasDbXref UMLS:C0014848 semapv:UnspecifiedMatching -DOID:9164 achalasia skos:exactMatch OMIM:200400 semapv:UnspecifiedMatching DOID:9165 neurotic excoriation oboInOwl:hasDbXref ICD10CM:L98.1 semapv:UnspecifiedMatching DOID:9165 neurotic excoriation oboInOwl:hasDbXref ICD9CM:698.4 semapv:UnspecifiedMatching DOID:9165 neurotic excoriation oboInOwl:hasDbXref UMLS:C1274184 semapv:UnspecifiedMatching @@ -37177,9 +26005,7 @@ DOID:9169 Wiskott-Aldrich syndrome oboInOwl:hasDbXref ICD10CM:D82.0 semapv:Unspe DOID:9169 Wiskott-Aldrich syndrome oboInOwl:hasDbXref ICD9CM:279.12 semapv:UnspecifiedMatching DOID:9169 Wiskott-Aldrich syndrome oboInOwl:hasDbXref MESH:D014923 semapv:UnspecifiedMatching DOID:9169 Wiskott-Aldrich syndrome oboInOwl:hasDbXref NCI:C3448 semapv:UnspecifiedMatching -DOID:9169 Wiskott-Aldrich syndrome oboInOwl:hasDbXref OMIM:301000 semapv:UnspecifiedMatching DOID:9169 Wiskott-Aldrich syndrome oboInOwl:hasDbXref UMLS:C0043194 semapv:UnspecifiedMatching -DOID:9169 Wiskott-Aldrich syndrome skos:exactMatch OMIM:301000 semapv:UnspecifiedMatching DOID:917 liver leiomyoma oboInOwl:hasDbXref NCI:C5753 semapv:UnspecifiedMatching DOID:917 liver leiomyoma oboInOwl:hasDbXref UMLS:C1333968 semapv:UnspecifiedMatching DOID:9173 submandibular gland cancer oboInOwl:hasDbXref ICD10CM:C08.0 semapv:UnspecifiedMatching @@ -37229,9 +26055,7 @@ DOID:9206 Barrett's esophagus oboInOwl:hasDbXref ICD10CM:K22.7 semapv:Unspecifie DOID:9206 Barrett's esophagus oboInOwl:hasDbXref ICD9CM:530.85 semapv:UnspecifiedMatching DOID:9206 Barrett's esophagus oboInOwl:hasDbXref MESH:D001471 semapv:UnspecifiedMatching DOID:9206 Barrett's esophagus oboInOwl:hasDbXref NCI:C2891 semapv:UnspecifiedMatching -DOID:9206 Barrett's esophagus oboInOwl:hasDbXref OMIM:614266 semapv:UnspecifiedMatching DOID:9206 Barrett's esophagus oboInOwl:hasDbXref UMLS:C0004763 semapv:UnspecifiedMatching -DOID:9206 Barrett's esophagus skos:exactMatch OMIM:614266 semapv:UnspecifiedMatching DOID:9207 periodic limb movement disorder oboInOwl:hasDbXref ICD10CM:G47.61 semapv:UnspecifiedMatching DOID:9207 periodic limb movement disorder oboInOwl:hasDbXref ICD9CM:327.51 semapv:UnspecifiedMatching DOID:9207 periodic limb movement disorder oboInOwl:hasDbXref MESH:D020189 semapv:UnspecifiedMatching @@ -37247,13 +26071,9 @@ DOID:9212 pityriasis rubra pilaris oboInOwl:hasDbXref ICD10CM:L44.0 semapv:Unspe DOID:9212 pityriasis rubra pilaris oboInOwl:hasDbXref ICD9CM:696.4 semapv:UnspecifiedMatching DOID:9212 pityriasis rubra pilaris oboInOwl:hasDbXref MESH:D010916 semapv:UnspecifiedMatching DOID:9212 pityriasis rubra pilaris oboInOwl:hasDbXref NCI:C85014 semapv:UnspecifiedMatching -DOID:9212 pityriasis rubra pilaris oboInOwl:hasDbXref OMIM:173200 semapv:UnspecifiedMatching DOID:9212 pityriasis rubra pilaris oboInOwl:hasDbXref UMLS:C0032027 semapv:UnspecifiedMatching -DOID:9212 pityriasis rubra pilaris skos:exactMatch OMIM:173200 semapv:UnspecifiedMatching DOID:9220 central sleep apnea oboInOwl:hasDbXref MESH:D020182 semapv:UnspecifiedMatching DOID:9220 central sleep apnea oboInOwl:hasDbXref NCI:C116046 semapv:UnspecifiedMatching -DOID:9220 central sleep apnea oboInOwl:hasDbXref OMIM:107640 semapv:UnspecifiedMatching -DOID:9220 central sleep apnea oboInOwl:hasDbXref OMIM:207720 semapv:UnspecifiedMatching DOID:9220 central sleep apnea oboInOwl:hasDbXref UMLS:C0520680 semapv:UnspecifiedMatching DOID:9230 pompholyx oboInOwl:hasDbXref ICD9CM:705.81 semapv:UnspecifiedMatching DOID:9230 pompholyx oboInOwl:hasDbXref MESH:D011146 semapv:UnspecifiedMatching @@ -37270,15 +26090,11 @@ DOID:9240 erythromelalgia oboInOwl:hasDbXref ICD10CM:I73.81 semapv:UnspecifiedMa DOID:9240 erythromelalgia oboInOwl:hasDbXref ICD9CM:443.82 semapv:UnspecifiedMatching DOID:9240 erythromelalgia oboInOwl:hasDbXref MESH:D004916 semapv:UnspecifiedMatching DOID:9240 erythromelalgia oboInOwl:hasDbXref NCI:C34593 semapv:UnspecifiedMatching -DOID:9240 erythromelalgia oboInOwl:hasDbXref OMIM:133020 semapv:UnspecifiedMatching DOID:9240 erythromelalgia oboInOwl:hasDbXref UMLS:C0014804 semapv:UnspecifiedMatching -DOID:9240 erythromelalgia skos:exactMatch OMIM:133020 semapv:UnspecifiedMatching DOID:9245 Alagille syndrome oboInOwl:hasDbXref GARD:804 semapv:UnspecifiedMatching DOID:9245 Alagille syndrome oboInOwl:hasDbXref ICD10CM:Q44.7 semapv:UnspecifiedMatching DOID:9245 Alagille syndrome oboInOwl:hasDbXref MESH:D016738 semapv:UnspecifiedMatching DOID:9245 Alagille syndrome oboInOwl:hasDbXref NCI:C35139 semapv:UnspecifiedMatching -DOID:9245 Alagille syndrome oboInOwl:hasDbXref OMIM:118450 semapv:UnspecifiedMatching -DOID:9245 Alagille syndrome oboInOwl:hasDbXref OMIM:610205 semapv:UnspecifiedMatching DOID:9245 Alagille syndrome oboInOwl:hasDbXref ORDO:52 semapv:UnspecifiedMatching DOID:9245 Alagille syndrome oboInOwl:hasDbXref UMLS:C0085280 semapv:UnspecifiedMatching DOID:9245 Alagille syndrome skos:exactMatch MESH:D016738 semapv:UnspecifiedMatching @@ -37291,20 +26107,14 @@ DOID:9246 cerebral amyloid angiopathy oboInOwl:hasDbXref UMLS:C1956349 semapv:Un DOID:9248 Pallister-Hall syndrome oboInOwl:hasDbXref GARD:7305 semapv:UnspecifiedMatching DOID:9248 Pallister-Hall syndrome oboInOwl:hasDbXref MESH:D054975 semapv:UnspecifiedMatching DOID:9248 Pallister-Hall syndrome oboInOwl:hasDbXref NCI:C84987 semapv:UnspecifiedMatching -DOID:9248 Pallister-Hall syndrome oboInOwl:hasDbXref OMIM:146510 semapv:UnspecifiedMatching DOID:9248 Pallister-Hall syndrome oboInOwl:hasDbXref UMLS:C0265220 semapv:UnspecifiedMatching -DOID:9248 Pallister-Hall syndrome skos:exactMatch OMIM:146510 semapv:UnspecifiedMatching DOID:9249 Beemer-Langer syndrome oboInOwl:hasDbXref MESH:C537599 semapv:UnspecifiedMatching -DOID:9249 Beemer-Langer syndrome oboInOwl:hasDbXref OMIM:269860 semapv:UnspecifiedMatching DOID:9249 Beemer-Langer syndrome oboInOwl:hasDbXref UMLS:C0432198 semapv:UnspecifiedMatching -DOID:9249 Beemer-Langer syndrome skos:exactMatch OMIM:269860 semapv:UnspecifiedMatching DOID:9250 acrocallosal syndrome oboInOwl:hasDbXref GARD:5721 semapv:UnspecifiedMatching DOID:9250 acrocallosal syndrome oboInOwl:hasDbXref MESH:D055673 semapv:UnspecifiedMatching DOID:9250 acrocallosal syndrome oboInOwl:hasDbXref NCI:C84531 semapv:UnspecifiedMatching -DOID:9250 acrocallosal syndrome oboInOwl:hasDbXref OMIM:200990 semapv:UnspecifiedMatching DOID:9250 acrocallosal syndrome oboInOwl:hasDbXref UMLS:C0796147 semapv:UnspecifiedMatching DOID:9250 acrocallosal syndrome skos:exactMatch MESH:D055673 semapv:UnspecifiedMatching -DOID:9250 acrocallosal syndrome skos:exactMatch OMIM:200990 semapv:UnspecifiedMatching DOID:9252 amino acid metabolic disorder oboInOwl:hasDbXref GARD:5793 semapv:UnspecifiedMatching DOID:9252 amino acid metabolic disorder oboInOwl:hasDbXref ICD10CM:E72.9 semapv:UnspecifiedMatching DOID:9252 amino acid metabolic disorder oboInOwl:hasDbXref ICD9CM:270 semapv:UnspecifiedMatching @@ -37316,9 +26126,7 @@ DOID:9253 gastrointestinal stromal tumor oboInOwl:hasDbXref ICD10CM:C49.A semapv DOID:9253 gastrointestinal stromal tumor oboInOwl:hasDbXref ICDO:8936/3 semapv:UnspecifiedMatching DOID:9253 gastrointestinal stromal tumor oboInOwl:hasDbXref MESH:D046152 semapv:UnspecifiedMatching DOID:9253 gastrointestinal stromal tumor oboInOwl:hasDbXref NCI:C3868 semapv:UnspecifiedMatching -DOID:9253 gastrointestinal stromal tumor oboInOwl:hasDbXref OMIM:606764 semapv:UnspecifiedMatching DOID:9253 gastrointestinal stromal tumor oboInOwl:hasDbXref UMLS:C0238198 semapv:UnspecifiedMatching -DOID:9253 gastrointestinal stromal tumor skos:exactMatch OMIM:606764 semapv:UnspecifiedMatching DOID:9254 mast-cell leukemia oboInOwl:hasDbXref ICD10CM:C94.3 semapv:UnspecifiedMatching DOID:9254 mast-cell leukemia oboInOwl:hasDbXref ICDO:9742/3 semapv:UnspecifiedMatching DOID:9254 mast-cell leukemia oboInOwl:hasDbXref MESH:D007946 semapv:UnspecifiedMatching @@ -37326,31 +26134,25 @@ DOID:9254 mast-cell leukemia oboInOwl:hasDbXref NCI:C3169 semapv:UnspecifiedMatc DOID:9254 mast-cell leukemia oboInOwl:hasDbXref UMLS:C0023461 semapv:UnspecifiedMatching DOID:9255 frontotemporal dementia oboInOwl:hasDbXref GARD:8436 semapv:UnspecifiedMatching DOID:9255 frontotemporal dementia oboInOwl:hasDbXref MESH:C563003 semapv:UnspecifiedMatching -DOID:9255 frontotemporal dementia oboInOwl:hasDbXref OMIM:600274 semapv:UnspecifiedMatching DOID:9255 frontotemporal dementia oboInOwl:hasDbXref ORDO:282 semapv:UnspecifiedMatching DOID:9255 frontotemporal dementia oboInOwl:hasDbXref UMLS:C0520716 semapv:UnspecifiedMatching DOID:9255 frontotemporal dementia skos:exactMatch MESH:D057180 semapv:UnspecifiedMatching -DOID:9255 frontotemporal dementia skos:exactMatch OMIM:600274 semapv:UnspecifiedMatching DOID:9256 colorectal cancer oboInOwl:hasDbXref ICD10CM:C18.9 semapv:UnspecifiedMatching DOID:9256 colorectal cancer oboInOwl:hasDbXref KEGG:05210 semapv:UnspecifiedMatching DOID:9256 colorectal cancer oboInOwl:hasDbXref MESH:D015179 semapv:UnspecifiedMatching DOID:9256 colorectal cancer oboInOwl:hasDbXref NCI:C2956 semapv:UnspecifiedMatching DOID:9256 colorectal cancer oboInOwl:hasDbXref NCI:C4978 semapv:UnspecifiedMatching -DOID:9256 colorectal cancer oboInOwl:hasDbXref OMIM:114500 semapv:UnspecifiedMatching DOID:9256 colorectal cancer oboInOwl:hasDbXref UMLS:C0009404 semapv:UnspecifiedMatching DOID:9256 colorectal cancer oboInOwl:hasDbXref UMLS:C0346629 semapv:UnspecifiedMatching -DOID:9256 colorectal cancer skos:exactMatch OMIM:114500 semapv:UnspecifiedMatching DOID:9258 Waardenburg syndrome oboInOwl:hasDbXref GARD:5525 semapv:UnspecifiedMatching DOID:9258 Waardenburg syndrome oboInOwl:hasDbXref MESH:D014849 semapv:UnspecifiedMatching DOID:9258 Waardenburg syndrome oboInOwl:hasDbXref NCI:C75008 semapv:UnspecifiedMatching DOID:9258 Waardenburg syndrome oboInOwl:hasDbXref NCI:C85222 semapv:UnspecifiedMatching -DOID:9258 Waardenburg syndrome oboInOwl:hasDbXref OMIMPS:193500 semapv:UnspecifiedMatching DOID:9258 Waardenburg syndrome oboInOwl:hasDbXref ORDO:3440 semapv:UnspecifiedMatching DOID:9258 Waardenburg syndrome oboInOwl:hasDbXref ORDO:895 semapv:UnspecifiedMatching DOID:9258 Waardenburg syndrome oboInOwl:hasDbXref UMLS:C0079661 semapv:UnspecifiedMatching DOID:9258 Waardenburg syndrome oboInOwl:hasDbXref UMLS:C1847800 semapv:UnspecifiedMatching DOID:9258 Waardenburg syndrome oboInOwl:hasDbXref UMLS:C3266898 semapv:UnspecifiedMatching -DOID:9258 Waardenburg syndrome skos:exactMatch OMIMPS:193500 semapv:UnspecifiedMatching DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref GARD:7163 semapv:UnspecifiedMatching DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref ICD10CM:C11 semapv:UnspecifiedMatching DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref ICD10CM:C11.0 semapv:UnspecifiedMatching @@ -37364,8 +26166,6 @@ DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref ICD9CM:147.2 semapv:Unspecifi DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref ICD9CM:147.3 semapv:UnspecifiedMatching DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref MESH:D009303 semapv:UnspecifiedMatching DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref NCI:C9321 semapv:UnspecifiedMatching -DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref OMIM:161550 semapv:UnspecifiedMatching -DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref OMIM:607107 semapv:UnspecifiedMatching DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref ORDO:150 semapv:UnspecifiedMatching DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref UMLS:C0153392 semapv:UnspecifiedMatching DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref UMLS:C0153393 semapv:UnspecifiedMatching @@ -37377,8 +26177,6 @@ DOID:9263 homocystinuria oboInOwl:hasDbXref GARD:10770 semapv:UnspecifiedMatchin DOID:9263 homocystinuria oboInOwl:hasDbXref ICD10CM:E72.11 semapv:UnspecifiedMatching DOID:9263 homocystinuria oboInOwl:hasDbXref MESH:D006712 semapv:UnspecifiedMatching DOID:9263 homocystinuria oboInOwl:hasDbXref NCI:C84765 semapv:UnspecifiedMatching -DOID:9263 homocystinuria oboInOwl:hasDbXref OMIM:236200 semapv:UnspecifiedMatching -DOID:9263 homocystinuria oboInOwl:hasDbXref OMIM:236250 semapv:UnspecifiedMatching DOID:9263 homocystinuria oboInOwl:hasDbXref ORDO:394 semapv:UnspecifiedMatching DOID:9263 homocystinuria oboInOwl:hasDbXref UMLS:C0019880 semapv:UnspecifiedMatching DOID:9265 histidine metabolism disease oboInOwl:hasDbXref ICD10CM:E70.4 semapv:UnspecifiedMatching @@ -37388,10 +26186,8 @@ DOID:9266 cystinuria oboInOwl:hasDbXref GARD:6237 semapv:UnspecifiedMatching DOID:9266 cystinuria oboInOwl:hasDbXref ICD10CM:E72.01 semapv:UnspecifiedMatching DOID:9266 cystinuria oboInOwl:hasDbXref MESH:D003555 semapv:UnspecifiedMatching DOID:9266 cystinuria oboInOwl:hasDbXref NCI:C84664 semapv:UnspecifiedMatching -DOID:9266 cystinuria oboInOwl:hasDbXref OMIM:220100 semapv:UnspecifiedMatching DOID:9266 cystinuria oboInOwl:hasDbXref ORDO:214 semapv:UnspecifiedMatching DOID:9266 cystinuria oboInOwl:hasDbXref UMLS:C0010691 semapv:UnspecifiedMatching -DOID:9266 cystinuria skos:exactMatch OMIM:220100 semapv:UnspecifiedMatching DOID:9267 urea cycle disorder oboInOwl:hasDbXref GARD:7837 semapv:UnspecifiedMatching DOID:9267 urea cycle disorder oboInOwl:hasDbXref ICD10CM:E72.2 semapv:UnspecifiedMatching DOID:9267 urea cycle disorder oboInOwl:hasDbXref ICD9CM:270.6 semapv:UnspecifiedMatching @@ -37402,34 +26198,25 @@ DOID:9268 glycine encephalopathy oboInOwl:hasDbXref GARD:7219 semapv:Unspecified DOID:9268 glycine encephalopathy oboInOwl:hasDbXref ICD10CM:E72.51 semapv:UnspecifiedMatching DOID:9268 glycine encephalopathy oboInOwl:hasDbXref MESH:D020158 semapv:UnspecifiedMatching DOID:9268 glycine encephalopathy oboInOwl:hasDbXref NCI:C84937 semapv:UnspecifiedMatching -DOID:9268 glycine encephalopathy oboInOwl:hasDbXref OMIM:605899 semapv:UnspecifiedMatching DOID:9268 glycine encephalopathy oboInOwl:hasDbXref UMLS:C0751748 semapv:UnspecifiedMatching -DOID:9268 glycine encephalopathy skos:exactMatch OMIM:605899 semapv:UnspecifiedMatching DOID:9269 maple syrup urine disease oboInOwl:hasDbXref GARD:3228 semapv:UnspecifiedMatching DOID:9269 maple syrup urine disease oboInOwl:hasDbXref ICD10CM:E71.0 semapv:UnspecifiedMatching DOID:9269 maple syrup urine disease oboInOwl:hasDbXref MESH:D008375 semapv:UnspecifiedMatching DOID:9269 maple syrup urine disease oboInOwl:hasDbXref NCI:C34806 semapv:UnspecifiedMatching -DOID:9269 maple syrup urine disease oboInOwl:hasDbXref OMIM:246900 semapv:UnspecifiedMatching -DOID:9269 maple syrup urine disease oboInOwl:hasDbXref OMIM:248600 semapv:UnspecifiedMatching -DOID:9269 maple syrup urine disease oboInOwl:hasDbXref OMIM:615135 semapv:UnspecifiedMatching DOID:9269 maple syrup urine disease oboInOwl:hasDbXref ORDO:511 semapv:UnspecifiedMatching DOID:9269 maple syrup urine disease oboInOwl:hasDbXref UMLS:C0024776 semapv:UnspecifiedMatching DOID:9270 alkaptonuria oboInOwl:hasDbXref GARD:5775 semapv:UnspecifiedMatching DOID:9270 alkaptonuria oboInOwl:hasDbXref ICD10CM:E70.29 semapv:UnspecifiedMatching DOID:9270 alkaptonuria oboInOwl:hasDbXref MESH:D000474 semapv:UnspecifiedMatching DOID:9270 alkaptonuria oboInOwl:hasDbXref NCI:C84546 semapv:UnspecifiedMatching -DOID:9270 alkaptonuria oboInOwl:hasDbXref OMIM:203500 semapv:UnspecifiedMatching DOID:9270 alkaptonuria oboInOwl:hasDbXref ORDO:56 semapv:UnspecifiedMatching DOID:9270 alkaptonuria oboInOwl:hasDbXref UMLS:C0002066 semapv:UnspecifiedMatching DOID:9270 alkaptonuria skos:exactMatch MESH:D000474 semapv:UnspecifiedMatching -DOID:9270 alkaptonuria skos:exactMatch OMIM:203500 semapv:UnspecifiedMatching DOID:9271 ornithine carbamoyltransferase deficiency oboInOwl:hasDbXref GARD:8391 semapv:UnspecifiedMatching DOID:9271 ornithine carbamoyltransferase deficiency oboInOwl:hasDbXref ICD10CM:E72.4 semapv:UnspecifiedMatching DOID:9271 ornithine carbamoyltransferase deficiency oboInOwl:hasDbXref MESH:D020163 semapv:UnspecifiedMatching DOID:9271 ornithine carbamoyltransferase deficiency oboInOwl:hasDbXref NCI:C84957 semapv:UnspecifiedMatching -DOID:9271 ornithine carbamoyltransferase deficiency oboInOwl:hasDbXref OMIM:311250 semapv:UnspecifiedMatching DOID:9271 ornithine carbamoyltransferase deficiency oboInOwl:hasDbXref UMLS:C0268542 semapv:UnspecifiedMatching -DOID:9271 ornithine carbamoyltransferase deficiency skos:exactMatch OMIM:311250 semapv:UnspecifiedMatching DOID:9273 citrullinemia oboInOwl:hasDbXref ICD10CM:E72.23 semapv:UnspecifiedMatching DOID:9273 citrullinemia oboInOwl:hasDbXref MESH:D020159 semapv:UnspecifiedMatching DOID:9273 citrullinemia oboInOwl:hasDbXref NCI:C84639 semapv:UnspecifiedMatching @@ -37439,8 +26226,6 @@ DOID:9274 hyperlysinemia oboInOwl:hasDbXref GARD:2828 semapv:UnspecifiedMatching DOID:9274 hyperlysinemia oboInOwl:hasDbXref ICD10CM:E72.3 semapv:UnspecifiedMatching DOID:9274 hyperlysinemia oboInOwl:hasDbXref MESH:D020167 semapv:UnspecifiedMatching DOID:9274 hyperlysinemia oboInOwl:hasDbXref NCI:C123433 semapv:UnspecifiedMatching -DOID:9274 hyperlysinemia oboInOwl:hasDbXref OMIM:238700 semapv:UnspecifiedMatching -DOID:9274 hyperlysinemia oboInOwl:hasDbXref OMIM:238710 semapv:UnspecifiedMatching DOID:9274 hyperlysinemia oboInOwl:hasDbXref ORDO:2203 semapv:UnspecifiedMatching DOID:9274 hyperlysinemia oboInOwl:hasDbXref UMLS:C0268553 semapv:UnspecifiedMatching DOID:9275 tyrosinemia oboInOwl:hasDbXref ICD10CM:E70.21 semapv:UnspecifiedMatching @@ -37451,30 +26236,22 @@ DOID:9277 primary cerebellar degeneration oboInOwl:hasDbXref UMLS:C0033132 semap DOID:9278 hyperargininemia oboInOwl:hasDbXref ICD10CM:E72.21 semapv:UnspecifiedMatching DOID:9278 hyperargininemia oboInOwl:hasDbXref MESH:D020162 semapv:UnspecifiedMatching DOID:9278 hyperargininemia oboInOwl:hasDbXref NCI:C84568 semapv:UnspecifiedMatching -DOID:9278 hyperargininemia oboInOwl:hasDbXref OMIM:207800 semapv:UnspecifiedMatching DOID:9278 hyperargininemia oboInOwl:hasDbXref UMLS:C0268548 semapv:UnspecifiedMatching -DOID:9278 hyperargininemia skos:exactMatch OMIM:207800 semapv:UnspecifiedMatching DOID:9279 hyperhomocysteinemia oboInOwl:hasDbXref MESH:D020138 semapv:UnspecifiedMatching DOID:9279 hyperhomocysteinemia oboInOwl:hasDbXref NCI:C84770 semapv:UnspecifiedMatching -DOID:9279 hyperhomocysteinemia oboInOwl:hasDbXref OMIM:603174 semapv:UnspecifiedMatching DOID:9279 hyperhomocysteinemia oboInOwl:hasDbXref UMLS:C0598608 semapv:UnspecifiedMatching -DOID:9279 hyperhomocysteinemia skos:exactMatch OMIM:603174 semapv:UnspecifiedMatching DOID:9280 carbamoyl phosphate synthetase I deficiency disease oboInOwl:hasDbXref GARD:7269 semapv:UnspecifiedMatching DOID:9280 carbamoyl phosphate synthetase I deficiency disease oboInOwl:hasDbXref MESH:D020165 semapv:UnspecifiedMatching DOID:9280 carbamoyl phosphate synthetase I deficiency disease oboInOwl:hasDbXref NCI:C84612 semapv:UnspecifiedMatching -DOID:9280 carbamoyl phosphate synthetase I deficiency disease oboInOwl:hasDbXref OMIM:237300 semapv:UnspecifiedMatching DOID:9280 carbamoyl phosphate synthetase I deficiency disease oboInOwl:hasDbXref UMLS:C0751753 semapv:UnspecifiedMatching -DOID:9280 carbamoyl phosphate synthetase I deficiency disease skos:exactMatch OMIM:237300 semapv:UnspecifiedMatching DOID:9281 phenylketonuria oboInOwl:hasDbXref GARD:7383 semapv:UnspecifiedMatching DOID:9281 phenylketonuria oboInOwl:hasDbXref ICD9CM:270.1 semapv:UnspecifiedMatching DOID:9281 phenylketonuria oboInOwl:hasDbXref MESH:D010661 semapv:UnspecifiedMatching DOID:9281 phenylketonuria oboInOwl:hasDbXref MESH:D017042 semapv:UnspecifiedMatching DOID:9281 phenylketonuria oboInOwl:hasDbXref NCI:C81315 semapv:UnspecifiedMatching -DOID:9281 phenylketonuria oboInOwl:hasDbXref OMIM:261600 semapv:UnspecifiedMatching DOID:9281 phenylketonuria oboInOwl:hasDbXref ORDO:716 semapv:UnspecifiedMatching DOID:9281 phenylketonuria oboInOwl:hasDbXref UMLS:C0031485 semapv:UnspecifiedMatching DOID:9281 phenylketonuria oboInOwl:hasDbXref UMLS:C0085547 semapv:UnspecifiedMatching -DOID:9281 phenylketonuria skos:exactMatch OMIM:261600 semapv:UnspecifiedMatching DOID:9282 ocular hypertension oboInOwl:hasDbXref ICD10CM:H40.05 semapv:UnspecifiedMatching DOID:9282 ocular hypertension oboInOwl:hasDbXref ICD9CM:365.04 semapv:UnspecifiedMatching DOID:9282 ocular hypertension oboInOwl:hasDbXref MESH:D009798 semapv:UnspecifiedMatching @@ -37584,11 +26361,6 @@ DOID:9352 type 2 diabetes mellitus oboInOwl:hasDbXref ICD10CM:E11 semapv:Unspeci DOID:9352 type 2 diabetes mellitus oboInOwl:hasDbXref KEGG:04930 semapv:UnspecifiedMatching DOID:9352 type 2 diabetes mellitus oboInOwl:hasDbXref MESH:D003924 semapv:UnspecifiedMatching DOID:9352 type 2 diabetes mellitus oboInOwl:hasDbXref NCI:C26747 semapv:UnspecifiedMatching -DOID:9352 type 2 diabetes mellitus oboInOwl:hasDbXref OMIM:125853 semapv:UnspecifiedMatching -DOID:9352 type 2 diabetes mellitus oboInOwl:hasDbXref OMIM:601283 semapv:UnspecifiedMatching -DOID:9352 type 2 diabetes mellitus oboInOwl:hasDbXref OMIM:601407 semapv:UnspecifiedMatching -DOID:9352 type 2 diabetes mellitus oboInOwl:hasDbXref OMIM:603694 semapv:UnspecifiedMatching -DOID:9352 type 2 diabetes mellitus oboInOwl:hasDbXref OMIM:608036 semapv:UnspecifiedMatching DOID:9352 type 2 diabetes mellitus oboInOwl:hasDbXref UMLS:C0011860 semapv:UnspecifiedMatching DOID:9358 fibular collateral ligament bursitis oboInOwl:hasDbXref ICD9CM:726.63 semapv:UnspecifiedMatching DOID:9358 fibular collateral ligament bursitis oboInOwl:hasDbXref UMLS:C0158316 semapv:UnspecifiedMatching @@ -37681,11 +26453,6 @@ DOID:9406 hypopituitarism oboInOwl:hasDbXref GARD:2917 semapv:UnspecifiedMatchin DOID:9406 hypopituitarism oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching DOID:9406 hypopituitarism oboInOwl:hasDbXref MESH:D007018 semapv:UnspecifiedMatching DOID:9406 hypopituitarism oboInOwl:hasDbXref NCI:C62591 semapv:UnspecifiedMatching -DOID:9406 hypopituitarism oboInOwl:hasDbXref OMIM:221750 semapv:UnspecifiedMatching -DOID:9406 hypopituitarism oboInOwl:hasDbXref OMIM:262600 semapv:UnspecifiedMatching -DOID:9406 hypopituitarism oboInOwl:hasDbXref OMIM:262700 semapv:UnspecifiedMatching -DOID:9406 hypopituitarism oboInOwl:hasDbXref OMIM:613038 semapv:UnspecifiedMatching -DOID:9406 hypopituitarism oboInOwl:hasDbXref OMIM:613986 semapv:UnspecifiedMatching DOID:9406 hypopituitarism oboInOwl:hasDbXref ORDO:95494 semapv:UnspecifiedMatching DOID:9406 hypopituitarism oboInOwl:hasDbXref UMLS:C0020635 semapv:UnspecifiedMatching DOID:9407 strictly posterior acute myocardial infarction oboInOwl:hasDbXref ICD9CM:410.60 semapv:UnspecifiedMatching @@ -37703,10 +26470,8 @@ DOID:9410 panhypopituitarism oboInOwl:hasDbXref ICD10CM:E23.0 semapv:Unspecified DOID:9410 panhypopituitarism oboInOwl:hasDbXref ICD9CM:253.2 semapv:UnspecifiedMatching DOID:9410 panhypopituitarism oboInOwl:hasDbXref MESH:C580003 semapv:UnspecifiedMatching DOID:9410 panhypopituitarism oboInOwl:hasDbXref NCI:C110940 semapv:UnspecifiedMatching -DOID:9410 panhypopituitarism oboInOwl:hasDbXref OMIMPS:613038 semapv:UnspecifiedMatching DOID:9410 panhypopituitarism oboInOwl:hasDbXref ORDO:90695 semapv:UnspecifiedMatching DOID:9410 panhypopituitarism oboInOwl:hasDbXref UMLS:C0242343 semapv:UnspecifiedMatching -DOID:9410 panhypopituitarism skos:exactMatch OMIMPS:613038 semapv:UnspecifiedMatching DOID:9415 allergic asthma oboInOwl:hasDbXref ICD10CM:J45 semapv:UnspecifiedMatching DOID:9415 allergic asthma oboInOwl:hasDbXref ICD9CM:493.0 semapv:UnspecifiedMatching DOID:9415 allergic asthma oboInOwl:hasDbXref UMLS:C0155877 semapv:UnspecifiedMatching @@ -37727,9 +26492,7 @@ DOID:9428 intracranial hypertension oboInOwl:hasDbXref NCI:C84791 semapv:Unspeci DOID:9428 intracranial hypertension oboInOwl:hasDbXref UMLS:C0151740 semapv:UnspecifiedMatching DOID:9432 renal glycosuria oboInOwl:hasDbXref GARD:7548 semapv:UnspecifiedMatching DOID:9432 renal glycosuria oboInOwl:hasDbXref ICD9CM:271.4 semapv:UnspecifiedMatching -DOID:9432 renal glycosuria oboInOwl:hasDbXref OMIM:233100 semapv:UnspecifiedMatching DOID:9432 renal glycosuria oboInOwl:hasDbXref UMLS:C0017980 semapv:UnspecifiedMatching -DOID:9432 renal glycosuria skos:exactMatch OMIM:233100 semapv:UnspecifiedMatching DOID:9439 chronic cholangitis oboInOwl:hasDbXref NCI:C35335 semapv:UnspecifiedMatching DOID:9439 chronic cholangitis oboInOwl:hasDbXref UMLS:C0267918 semapv:UnspecifiedMatching DOID:9442 cervical Mullerian papilloma oboInOwl:hasDbXref NCI:C40215 semapv:UnspecifiedMatching @@ -37745,10 +26508,8 @@ DOID:9452 steatotic liver disease oboInOwl:hasDbXref ICD10CM:K70.0 semapv:Unspec DOID:9452 steatotic liver disease oboInOwl:hasDbXref ICD9CM:571.0 semapv:UnspecifiedMatching DOID:9452 steatotic liver disease oboInOwl:hasDbXref MESH:D005234 semapv:UnspecifiedMatching DOID:9452 steatotic liver disease oboInOwl:hasDbXref MESH:D005235 semapv:UnspecifiedMatching -DOID:9452 steatotic liver disease oboInOwl:hasDbXref OMIM:228100 semapv:UnspecifiedMatching DOID:9452 steatotic liver disease oboInOwl:hasDbXref UMLS:C0015695 semapv:UnspecifiedMatching DOID:9452 steatotic liver disease oboInOwl:hasDbXref UMLS:C0015696 semapv:UnspecifiedMatching -DOID:9452 steatotic liver disease skos:exactMatch OMIM:228100 semapv:UnspecifiedMatching DOID:9455 lipid storage disease oboInOwl:hasDbXref ICD10CM:E75.6 semapv:UnspecifiedMatching DOID:9455 lipid storage disease oboInOwl:hasDbXref ICD9CM:272.7 semapv:UnspecifiedMatching DOID:9455 lipid storage disease oboInOwl:hasDbXref ICD9CM:272.8 semapv:UnspecifiedMatching @@ -37777,10 +26538,8 @@ DOID:9467 nail-patella syndrome oboInOwl:hasDbXref ICD10CM:Q87.2 semapv:Unspecif DOID:9467 nail-patella syndrome oboInOwl:hasDbXref MEDDRA:10063431 semapv:UnspecifiedMatching DOID:9467 nail-patella syndrome oboInOwl:hasDbXref MESH:D009261 semapv:UnspecifiedMatching DOID:9467 nail-patella syndrome oboInOwl:hasDbXref NCI:C75120 semapv:UnspecifiedMatching -DOID:9467 nail-patella syndrome oboInOwl:hasDbXref OMIM:161200 semapv:UnspecifiedMatching DOID:9467 nail-patella syndrome oboInOwl:hasDbXref ORDO:2614 semapv:UnspecifiedMatching DOID:9467 nail-patella syndrome oboInOwl:hasDbXref UMLS:C0027341 semapv:UnspecifiedMatching -DOID:9467 nail-patella syndrome skos:exactMatch OMIM:161200 semapv:UnspecifiedMatching DOID:9470 bacterial meningitis oboInOwl:hasDbXref GARD:5881 semapv:UnspecifiedMatching DOID:9470 bacterial meningitis oboInOwl:hasDbXref ICD10CM:G00 semapv:UnspecifiedMatching DOID:9470 bacterial meningitis oboInOwl:hasDbXref ICD9CM:320 semapv:UnspecifiedMatching @@ -37814,9 +26573,7 @@ DOID:9487 Meckel's diverticulum oboInOwl:hasDbXref ICD10CM:Q43.0 semapv:Unspecif DOID:9487 Meckel's diverticulum oboInOwl:hasDbXref ICD9CM:751.0 semapv:UnspecifiedMatching DOID:9487 Meckel's diverticulum oboInOwl:hasDbXref MESH:D008467 semapv:UnspecifiedMatching DOID:9487 Meckel's diverticulum oboInOwl:hasDbXref NCI:C12264 semapv:UnspecifiedMatching -DOID:9487 Meckel's diverticulum oboInOwl:hasDbXref OMIM:155140 semapv:UnspecifiedMatching DOID:9487 Meckel's diverticulum oboInOwl:hasDbXref UMLS:C0025037 semapv:UnspecifiedMatching -DOID:9487 Meckel's diverticulum skos:exactMatch OMIM:155140 semapv:UnspecifiedMatching DOID:949 chronic dacryoadenitis oboInOwl:hasDbXref ICD10CM:H04.02 semapv:UnspecifiedMatching DOID:949 chronic dacryoadenitis oboInOwl:hasDbXref ICD9CM:375.02 semapv:UnspecifiedMatching DOID:949 chronic dacryoadenitis oboInOwl:hasDbXref UMLS:C0155224 semapv:UnspecifiedMatching @@ -37876,10 +26633,8 @@ DOID:9521 Laron syndrome oboInOwl:hasDbXref GARD:6859 semapv:UnspecifiedMatching DOID:9521 Laron syndrome oboInOwl:hasDbXref ICD10CM:E34.321 semapv:UnspecifiedMatching DOID:9521 Laron syndrome oboInOwl:hasDbXref MESH:D046150 semapv:UnspecifiedMatching DOID:9521 Laron syndrome oboInOwl:hasDbXref NCI:C130994 semapv:UnspecifiedMatching -DOID:9521 Laron syndrome oboInOwl:hasDbXref OMIM:262500 semapv:UnspecifiedMatching DOID:9521 Laron syndrome oboInOwl:hasDbXref ORDO:633 semapv:UnspecifiedMatching DOID:9521 Laron syndrome oboInOwl:hasDbXref UMLS:C0271568 semapv:UnspecifiedMatching -DOID:9521 Laron syndrome skos:exactMatch OMIM:262500 semapv:UnspecifiedMatching DOID:9531 latent syphilis oboInOwl:hasDbXref ICD10CM:A53.0 semapv:UnspecifiedMatching DOID:9531 latent syphilis oboInOwl:hasDbXref ICD9CM:097.1 semapv:UnspecifiedMatching DOID:9531 latent syphilis oboInOwl:hasDbXref MESH:D013592 semapv:UnspecifiedMatching @@ -37898,10 +26653,8 @@ DOID:9538 multiple myeloma oboInOwl:hasDbXref ICD10CM:C90.0 semapv:UnspecifiedMa DOID:9538 multiple myeloma oboInOwl:hasDbXref ICD9CM:203.0 semapv:UnspecifiedMatching DOID:9538 multiple myeloma oboInOwl:hasDbXref MESH:D009101 semapv:UnspecifiedMatching DOID:9538 multiple myeloma oboInOwl:hasDbXref NCI:C3242 semapv:UnspecifiedMatching -DOID:9538 multiple myeloma oboInOwl:hasDbXref OMIM:254500 semapv:UnspecifiedMatching DOID:9538 multiple myeloma oboInOwl:hasDbXref ORDO:29073 semapv:UnspecifiedMatching DOID:9538 multiple myeloma oboInOwl:hasDbXref UMLS:C0026764 semapv:UnspecifiedMatching -DOID:9538 multiple myeloma skos:exactMatch OMIM:254500 semapv:UnspecifiedMatching DOID:9540 vascular skin disease oboInOwl:hasDbXref ICD9CM:709.1 semapv:UnspecifiedMatching DOID:9540 vascular skin disease oboInOwl:hasDbXref MESH:D017445 semapv:UnspecifiedMatching DOID:9540 vascular skin disease oboInOwl:hasDbXref NCI:C35254 semapv:UnspecifiedMatching @@ -37926,18 +26679,12 @@ DOID:9561 nasopharyngeal disease oboInOwl:hasDbXref UMLS:C0027438 semapv:Unspeci DOID:9562 primary ciliary dyskinesia oboInOwl:hasDbXref GARD:4484 semapv:UnspecifiedMatching DOID:9562 primary ciliary dyskinesia oboInOwl:hasDbXref MESH:D002925 semapv:UnspecifiedMatching DOID:9562 primary ciliary dyskinesia oboInOwl:hasDbXref NCI:C84638 semapv:UnspecifiedMatching -DOID:9562 primary ciliary dyskinesia oboInOwl:hasDbXref OMIMPS:244400 semapv:UnspecifiedMatching DOID:9562 primary ciliary dyskinesia oboInOwl:hasDbXref ORDO:244 semapv:UnspecifiedMatching DOID:9562 primary ciliary dyskinesia oboInOwl:hasDbXref UMLS:C0008780 semapv:UnspecifiedMatching -DOID:9562 primary ciliary dyskinesia skos:exactMatch OMIMPS:244400 semapv:UnspecifiedMatching DOID:9563 bronchiectasis oboInOwl:hasDbXref ICD10CM:J47 semapv:UnspecifiedMatching DOID:9563 bronchiectasis oboInOwl:hasDbXref ICD9CM:494 semapv:UnspecifiedMatching DOID:9563 bronchiectasis oboInOwl:hasDbXref MESH:D001987 semapv:UnspecifiedMatching DOID:9563 bronchiectasis oboInOwl:hasDbXref NCI:C84475 semapv:UnspecifiedMatching -DOID:9563 bronchiectasis oboInOwl:hasDbXref OMIM:211400 semapv:UnspecifiedMatching -DOID:9563 bronchiectasis oboInOwl:hasDbXref OMIM:613021 semapv:UnspecifiedMatching -DOID:9563 bronchiectasis oboInOwl:hasDbXref OMIM:613071 semapv:UnspecifiedMatching -DOID:9563 bronchiectasis oboInOwl:hasDbXref OMIMPS:211400 semapv:UnspecifiedMatching DOID:9563 bronchiectasis oboInOwl:hasDbXref ORDO:60033 semapv:UnspecifiedMatching DOID:9563 bronchiectasis oboInOwl:hasDbXref UMLS:C0006267 semapv:UnspecifiedMatching DOID:9565 dextrocardia oboInOwl:hasDbXref GARD:1827 semapv:UnspecifiedMatching @@ -37949,10 +26696,8 @@ DOID:9574 choanal atresia oboInOwl:hasDbXref ICD10CM:Q30.0 semapv:UnspecifiedMat DOID:9574 choanal atresia oboInOwl:hasDbXref ICD9CM:748.0 semapv:UnspecifiedMatching DOID:9574 choanal atresia oboInOwl:hasDbXref MESH:C562435 semapv:UnspecifiedMatching DOID:9574 choanal atresia oboInOwl:hasDbXref MESH:D002754 semapv:UnspecifiedMatching -DOID:9574 choanal atresia oboInOwl:hasDbXref OMIM:608911 semapv:UnspecifiedMatching DOID:9574 choanal atresia oboInOwl:hasDbXref UMLS:C0008297 semapv:UnspecifiedMatching DOID:9574 choanal atresia oboInOwl:hasDbXref UMLS:C0220723 semapv:UnspecifiedMatching -DOID:9574 choanal atresia skos:exactMatch OMIM:608911 semapv:UnspecifiedMatching DOID:9577 neonatal candidiasis oboInOwl:hasDbXref ICD10CM:P37.5 semapv:UnspecifiedMatching DOID:9577 neonatal candidiasis oboInOwl:hasDbXref ICD9CM:771.7 semapv:UnspecifiedMatching DOID:9577 neonatal candidiasis oboInOwl:hasDbXref NCI:C116810 semapv:UnspecifiedMatching @@ -38020,16 +26765,6 @@ DOID:9620 vesicoureteral reflux oboInOwl:hasDbXref ICD10CM:N13.7 semapv:Unspecif DOID:9620 vesicoureteral reflux oboInOwl:hasDbXref ICD9CM:593.7 semapv:UnspecifiedMatching DOID:9620 vesicoureteral reflux oboInOwl:hasDbXref MESH:D014718 semapv:UnspecifiedMatching DOID:9620 vesicoureteral reflux oboInOwl:hasDbXref NCI:C84467 semapv:UnspecifiedMatching -DOID:9620 vesicoureteral reflux oboInOwl:hasDbXref OMIM:193000 semapv:UnspecifiedMatching -DOID:9620 vesicoureteral reflux oboInOwl:hasDbXref OMIM:314550 semapv:UnspecifiedMatching -DOID:9620 vesicoureteral reflux oboInOwl:hasDbXref OMIM:610878 semapv:UnspecifiedMatching -DOID:9620 vesicoureteral reflux oboInOwl:hasDbXref OMIM:613674 semapv:UnspecifiedMatching -DOID:9620 vesicoureteral reflux oboInOwl:hasDbXref OMIM:614317 semapv:UnspecifiedMatching -DOID:9620 vesicoureteral reflux oboInOwl:hasDbXref OMIM:614318 semapv:UnspecifiedMatching -DOID:9620 vesicoureteral reflux oboInOwl:hasDbXref OMIM:614319 semapv:UnspecifiedMatching -DOID:9620 vesicoureteral reflux oboInOwl:hasDbXref OMIM:614674 semapv:UnspecifiedMatching -DOID:9620 vesicoureteral reflux oboInOwl:hasDbXref OMIM:615390 semapv:UnspecifiedMatching -DOID:9620 vesicoureteral reflux oboInOwl:hasDbXref OMIM:615963 semapv:UnspecifiedMatching DOID:9620 vesicoureteral reflux oboInOwl:hasDbXref ORDO:289365 semapv:UnspecifiedMatching DOID:9620 vesicoureteral reflux oboInOwl:hasDbXref UMLS:C0042580 semapv:UnspecifiedMatching DOID:9621 non-congenital cyst of kidney oboInOwl:hasDbXref ICD10CM:N28.1 semapv:UnspecifiedMatching @@ -38046,9 +26781,7 @@ DOID:963 episodic ataxia oboInOwl:hasDbXref UMLS:C1720189 semapv:UnspecifiedMatc DOID:9631 Pelger-Huet anomaly oboInOwl:hasDbXref GARD:9148 semapv:UnspecifiedMatching DOID:9631 Pelger-Huet anomaly oboInOwl:hasDbXref MESH:D010381 semapv:UnspecifiedMatching DOID:9631 Pelger-Huet anomaly oboInOwl:hasDbXref NCI:C85002 semapv:UnspecifiedMatching -DOID:9631 Pelger-Huet anomaly oboInOwl:hasDbXref OMIM:169400 semapv:UnspecifiedMatching DOID:9631 Pelger-Huet anomaly oboInOwl:hasDbXref UMLS:C0030779 semapv:UnspecifiedMatching -DOID:9631 Pelger-Huet anomaly skos:exactMatch OMIM:169400 semapv:UnspecifiedMatching DOID:9637 stomatitis oboInOwl:hasDbXref ICD10CM:K12.1 semapv:UnspecifiedMatching DOID:9637 stomatitis oboInOwl:hasDbXref MESH:D013280 semapv:UnspecifiedMatching DOID:9637 stomatitis oboInOwl:hasDbXref NCI:C26887 semapv:UnspecifiedMatching @@ -38067,10 +26800,8 @@ DOID:9643 babesiosis oboInOwl:hasDbXref UMLS:C0004576 semapv:UnspecifiedMatching DOID:9649 congenital nystagmus oboInOwl:hasDbXref ICD10CM:H55.01 semapv:UnspecifiedMatching DOID:9649 congenital nystagmus oboInOwl:hasDbXref ICD9CM:379.51 semapv:UnspecifiedMatching DOID:9649 congenital nystagmus oboInOwl:hasDbXref MESH:D020417 semapv:UnspecifiedMatching -DOID:9649 congenital nystagmus oboInOwl:hasDbXref OMIMPS:310700 semapv:UnspecifiedMatching DOID:9649 congenital nystagmus oboInOwl:hasDbXref ORDO:651 semapv:UnspecifiedMatching DOID:9649 congenital nystagmus oboInOwl:hasDbXref UMLS:C0700501 semapv:UnspecifiedMatching -DOID:9649 congenital nystagmus skos:exactMatch OMIMPS:310700 semapv:UnspecifiedMatching DOID:9650 pathologic nystagmus oboInOwl:hasDbXref ICD10CM:H55.0 semapv:UnspecifiedMatching DOID:9650 pathologic nystagmus oboInOwl:hasDbXref ICD9CM:379.50 semapv:UnspecifiedMatching DOID:9650 pathologic nystagmus oboInOwl:hasDbXref MESH:D009759 semapv:UnspecifiedMatching @@ -38109,10 +26840,8 @@ DOID:9673 ulcerative stomatitis oboInOwl:hasDbXref NCI:C35039 semapv:Unspecified DOID:9673 ulcerative stomatitis oboInOwl:hasDbXref UMLS:C0038367 semapv:UnspecifiedMatching DOID:9675 pulmonary emphysema oboInOwl:hasDbXref ICD10CM:J43.8 semapv:UnspecifiedMatching DOID:9675 pulmonary emphysema oboInOwl:hasDbXref ICD9CM:492.8 semapv:UnspecifiedMatching -DOID:9675 pulmonary emphysema oboInOwl:hasDbXref OMIM:130700 semapv:UnspecifiedMatching DOID:9675 pulmonary emphysema oboInOwl:hasDbXref UMLS:C0029607 semapv:UnspecifiedMatching DOID:9675 pulmonary emphysema skos:exactMatch MESH:D011656 semapv:UnspecifiedMatching -DOID:9675 pulmonary emphysema skos:exactMatch OMIM:130700 semapv:UnspecifiedMatching DOID:9681 cervical incompetence oboInOwl:hasDbXref ICD10CM:N88.3 semapv:UnspecifiedMatching DOID:9681 cervical incompetence oboInOwl:hasDbXref ICD9CM:622.5 semapv:UnspecifiedMatching DOID:9681 cervical incompetence oboInOwl:hasDbXref MESH:D002581 semapv:UnspecifiedMatching @@ -38159,10 +26888,8 @@ DOID:9717 hydrops of gallbladder oboInOwl:hasDbXref ICD10CM:K82.1 semapv:Unspeci DOID:9717 hydrops of gallbladder oboInOwl:hasDbXref ICD9CM:575.3 semapv:UnspecifiedMatching DOID:9717 hydrops of gallbladder oboInOwl:hasDbXref UMLS:C0152445 semapv:UnspecifiedMatching DOID:9719 neovascular inflammatory vitreoretinopathy oboInOwl:hasDbXref MESH:D018630 semapv:UnspecifiedMatching -DOID:9719 neovascular inflammatory vitreoretinopathy oboInOwl:hasDbXref OMIM:193235 semapv:UnspecifiedMatching DOID:9719 neovascular inflammatory vitreoretinopathy oboInOwl:hasDbXref ORDO:329211 semapv:UnspecifiedMatching DOID:9719 neovascular inflammatory vitreoretinopathy oboInOwl:hasDbXref UMLS:C0242852 semapv:UnspecifiedMatching -DOID:9719 neovascular inflammatory vitreoretinopathy skos:exactMatch OMIM:193235 semapv:UnspecifiedMatching DOID:9720 vitreous disease oboInOwl:hasDbXref ICD10CM:H43.39 semapv:UnspecifiedMatching DOID:9720 vitreous disease oboInOwl:hasDbXref ICD9CM:379.24 semapv:UnspecifiedMatching DOID:9720 vitreous disease oboInOwl:hasDbXref UMLS:C0029872 semapv:UnspecifiedMatching @@ -38210,9 +26937,7 @@ DOID:9744 type 1 diabetes mellitus oboInOwl:hasDbXref ICD10CM:E10 semapv:Unspeci DOID:9744 type 1 diabetes mellitus oboInOwl:hasDbXref KEGG:04940 semapv:UnspecifiedMatching DOID:9744 type 1 diabetes mellitus oboInOwl:hasDbXref MESH:D003922 semapv:UnspecifiedMatching DOID:9744 type 1 diabetes mellitus oboInOwl:hasDbXref NCI:C2986 semapv:UnspecifiedMatching -DOID:9744 type 1 diabetes mellitus oboInOwl:hasDbXref OMIM:222100 semapv:UnspecifiedMatching DOID:9744 type 1 diabetes mellitus oboInOwl:hasDbXref UMLS:C0011854 semapv:UnspecifiedMatching -DOID:9744 type 1 diabetes mellitus skos:exactMatch OMIM:222100 semapv:UnspecifiedMatching DOID:9745 perianal hematoma oboInOwl:hasDbXref ICD10CM:K64.5 semapv:UnspecifiedMatching DOID:9745 perianal hematoma oboInOwl:hasDbXref ICD9CM:455.4 semapv:UnspecifiedMatching DOID:9745 perianal hematoma oboInOwl:hasDbXref UMLS:C0155784 semapv:UnspecifiedMatching @@ -38286,9 +27011,7 @@ DOID:9799 eye degenerative disease oboInOwl:hasDbXref UMLS:C0154777 semapv:Unspe DOID:980 choroidal sclerosis oboInOwl:hasDbXref ICD10CM:H31.10 semapv:UnspecifiedMatching DOID:980 choroidal sclerosis oboInOwl:hasDbXref ICD9CM:363.4 semapv:UnspecifiedMatching DOID:980 choroidal sclerosis oboInOwl:hasDbXref MESH:C535358 semapv:UnspecifiedMatching -DOID:980 choroidal sclerosis oboInOwl:hasDbXref OMIM:215500 semapv:UnspecifiedMatching DOID:980 choroidal sclerosis oboInOwl:hasDbXref UMLS:C0344297 semapv:UnspecifiedMatching -DOID:980 choroidal sclerosis skos:exactMatch OMIM:215500 semapv:UnspecifiedMatching DOID:9801 tuberculous peritonitis oboInOwl:hasDbXref ICD10CM:A18.31 semapv:UnspecifiedMatching DOID:9801 tuberculous peritonitis oboInOwl:hasDbXref ICD9CM:014.0 semapv:UnspecifiedMatching DOID:9801 tuberculous peritonitis oboInOwl:hasDbXref MESH:D014395 semapv:UnspecifiedMatching @@ -38298,9 +27021,7 @@ DOID:9808 Goodpasture syndrome oboInOwl:hasDbXref ICD10CM:M31.0 semapv:Unspecifi DOID:9808 Goodpasture syndrome oboInOwl:hasDbXref ICD9CM:446.21 semapv:UnspecifiedMatching DOID:9808 Goodpasture syndrome oboInOwl:hasDbXref MESH:D019867 semapv:UnspecifiedMatching DOID:9808 Goodpasture syndrome oboInOwl:hasDbXref NCI:C84566 semapv:UnspecifiedMatching -DOID:9808 Goodpasture syndrome oboInOwl:hasDbXref OMIM:233450 semapv:UnspecifiedMatching DOID:9808 Goodpasture syndrome oboInOwl:hasDbXref UMLS:C0403529 semapv:UnspecifiedMatching -DOID:9808 Goodpasture syndrome skos:exactMatch OMIM:233450 semapv:UnspecifiedMatching DOID:9809 hypersensitivity vasculitis oboInOwl:hasDbXref GARD:7851 semapv:UnspecifiedMatching DOID:9809 hypersensitivity vasculitis oboInOwl:hasDbXref ICD10CM:M31.0 semapv:UnspecifiedMatching DOID:9809 hypersensitivity vasculitis oboInOwl:hasDbXref ICD9CM:446.2 semapv:UnspecifiedMatching @@ -38325,21 +27046,15 @@ DOID:9821 choroideremia oboInOwl:hasDbXref ICD10CM:H31.21 semapv:UnspecifiedMatc DOID:9821 choroideremia oboInOwl:hasDbXref ICD9CM:363.55 semapv:UnspecifiedMatching DOID:9821 choroideremia oboInOwl:hasDbXref MESH:D015794 semapv:UnspecifiedMatching DOID:9821 choroideremia oboInOwl:hasDbXref NCI:C34469 semapv:UnspecifiedMatching -DOID:9821 choroideremia oboInOwl:hasDbXref OMIM:303100 semapv:UnspecifiedMatching DOID:9821 choroideremia oboInOwl:hasDbXref ORDO:180 semapv:UnspecifiedMatching DOID:9821 choroideremia oboInOwl:hasDbXref UMLS:C0008525 semapv:UnspecifiedMatching DOID:9821 choroideremia skos:exactMatch MESH:D015794 semapv:UnspecifiedMatching -DOID:9821 choroideremia skos:exactMatch OMIM:303100 semapv:UnspecifiedMatching DOID:9822 partial central choroid dystrophy oboInOwl:hasDbXref ICD9CM:363.53 semapv:UnspecifiedMatching -DOID:9822 partial central choroid dystrophy oboInOwl:hasDbXref OMIM:613105 semapv:UnspecifiedMatching DOID:9822 partial central choroid dystrophy oboInOwl:hasDbXref UMLS:C0339427 semapv:UnspecifiedMatching -DOID:9822 partial central choroid dystrophy skos:exactMatch OMIM:613105 semapv:UnspecifiedMatching DOID:9827 radioulnar synostosis oboInOwl:hasDbXref ICD10CM:Q74.0 semapv:UnspecifiedMatching DOID:9827 radioulnar synostosis oboInOwl:hasDbXref ICD9CM:755.53 semapv:UnspecifiedMatching DOID:9827 radioulnar synostosis oboInOwl:hasDbXref MESH:C562408 semapv:UnspecifiedMatching -DOID:9827 radioulnar synostosis oboInOwl:hasDbXref OMIM:179300 semapv:UnspecifiedMatching DOID:9827 radioulnar synostosis oboInOwl:hasDbXref UMLS:C0158761 semapv:UnspecifiedMatching -DOID:9827 radioulnar synostosis skos:exactMatch OMIM:179300 semapv:UnspecifiedMatching DOID:9828 neonatal abstinence syndrome oboInOwl:hasDbXref ICD10CM:P96.1 semapv:UnspecifiedMatching DOID:9828 neonatal abstinence syndrome oboInOwl:hasDbXref ICD9CM:779.5 semapv:UnspecifiedMatching DOID:9828 neonatal abstinence syndrome oboInOwl:hasDbXref MESH:D009357 semapv:UnspecifiedMatching @@ -38392,9 +27107,7 @@ DOID:9849 Meniere's disease oboInOwl:hasDbXref ICD10CM:H81.0 semapv:UnspecifiedM DOID:9849 Meniere's disease oboInOwl:hasDbXref ICD9CM:386.0 semapv:UnspecifiedMatching DOID:9849 Meniere's disease oboInOwl:hasDbXref MESH:D008575 semapv:UnspecifiedMatching DOID:9849 Meniere's disease oboInOwl:hasDbXref NCI:C185243 semapv:UnspecifiedMatching -DOID:9849 Meniere's disease oboInOwl:hasDbXref OMIM:156000 semapv:UnspecifiedMatching DOID:9849 Meniere's disease oboInOwl:hasDbXref UMLS:C0025281 semapv:UnspecifiedMatching -DOID:9849 Meniere's disease skos:exactMatch OMIM:156000 semapv:UnspecifiedMatching DOID:9854 lingual-facial-buccal dyskinesia oboInOwl:hasDbXref ICD10CM:G24.4 semapv:UnspecifiedMatching DOID:9854 lingual-facial-buccal dyskinesia oboInOwl:hasDbXref ICD9CM:333.82 semapv:UnspecifiedMatching DOID:9854 lingual-facial-buccal dyskinesia oboInOwl:hasDbXref MESH:D020820 semapv:UnspecifiedMatching @@ -38415,8 +27128,6 @@ DOID:986 alopecia areata oboInOwl:hasDbXref GARD:5782 semapv:UnspecifiedMatching DOID:986 alopecia areata oboInOwl:hasDbXref ICD10CM:L63 semapv:UnspecifiedMatching DOID:986 alopecia areata oboInOwl:hasDbXref ICD9CM:704.01 semapv:UnspecifiedMatching DOID:986 alopecia areata oboInOwl:hasDbXref MESH:D000506 semapv:UnspecifiedMatching -DOID:986 alopecia areata oboInOwl:hasDbXref OMIM:104000 semapv:UnspecifiedMatching -DOID:986 alopecia areata oboInOwl:hasDbXref OMIM:610753 semapv:UnspecifiedMatching DOID:986 alopecia areata oboInOwl:hasDbXref UMLS:C0002171 semapv:UnspecifiedMatching DOID:986 alopecia areata skos:exactMatch MESH:D000506 semapv:UnspecifiedMatching DOID:9861 miliary tuberculosis oboInOwl:hasDbXref ICD10CM:A19 semapv:UnspecifiedMatching @@ -38434,17 +27145,13 @@ DOID:9869 hereditary fructose intolerance syndrome oboInOwl:hasDbXref ICD10CM:E7 DOID:9869 hereditary fructose intolerance syndrome oboInOwl:hasDbXref ICD9CM:271.2 semapv:UnspecifiedMatching DOID:9869 hereditary fructose intolerance syndrome oboInOwl:hasDbXref MESH:D005633 semapv:UnspecifiedMatching DOID:9869 hereditary fructose intolerance syndrome oboInOwl:hasDbXref NCI:C84720 semapv:UnspecifiedMatching -DOID:9869 hereditary fructose intolerance syndrome oboInOwl:hasDbXref OMIM:229600 semapv:UnspecifiedMatching DOID:9869 hereditary fructose intolerance syndrome oboInOwl:hasDbXref UMLS:C0016751 semapv:UnspecifiedMatching -DOID:9869 hereditary fructose intolerance syndrome skos:exactMatch OMIM:229600 semapv:UnspecifiedMatching DOID:987 alopecia oboInOwl:hasDbXref ICD10CM:L65.9 semapv:UnspecifiedMatching DOID:987 alopecia oboInOwl:hasDbXref ICD9CM:704.0 semapv:UnspecifiedMatching DOID:987 alopecia oboInOwl:hasDbXref MESH:D000505 semapv:UnspecifiedMatching DOID:987 alopecia oboInOwl:hasDbXref NCI:C50575 semapv:UnspecifiedMatching -DOID:987 alopecia oboInOwl:hasDbXref OMIMPS:203655 semapv:UnspecifiedMatching DOID:987 alopecia oboInOwl:hasDbXref UMLS:C0002170 semapv:UnspecifiedMatching DOID:987 alopecia skos:exactMatch MESH:D000505 semapv:UnspecifiedMatching -DOID:987 alopecia skos:exactMatch OMIMPS:203655 semapv:UnspecifiedMatching DOID:9870 galactosemia oboInOwl:hasDbXref GARD:2424 semapv:UnspecifiedMatching DOID:9870 galactosemia oboInOwl:hasDbXref ICD10CM:E74.21 semapv:UnspecifiedMatching DOID:9870 galactosemia oboInOwl:hasDbXref ICD9CM:271.1 semapv:UnspecifiedMatching @@ -38456,28 +27163,16 @@ DOID:9877 urethral gland abscess oboInOwl:hasDbXref ICD9CM:597.0 semapv:Unspecif DOID:9877 urethral gland abscess oboInOwl:hasDbXref UMLS:C0156278 semapv:UnspecifiedMatching DOID:988 mitral valve prolapse oboInOwl:hasDbXref MESH:D008945 semapv:UnspecifiedMatching DOID:988 mitral valve prolapse oboInOwl:hasDbXref NCI:C50655 semapv:UnspecifiedMatching -DOID:988 mitral valve prolapse oboInOwl:hasDbXref OMIM:157700 semapv:UnspecifiedMatching -DOID:988 mitral valve prolapse oboInOwl:hasDbXref OMIM:607829 semapv:UnspecifiedMatching -DOID:988 mitral valve prolapse oboInOwl:hasDbXref OMIM:610840 semapv:UnspecifiedMatching DOID:988 mitral valve prolapse oboInOwl:hasDbXref UMLS:C0026267 semapv:UnspecifiedMatching DOID:9880 cardiovascular syphilis oboInOwl:hasDbXref ICD9CM:093.8 semapv:UnspecifiedMatching DOID:9880 cardiovascular syphilis oboInOwl:hasDbXref UMLS:C0029751 semapv:UnspecifiedMatching DOID:9883 Becker muscular dystrophy oboInOwl:hasDbXref GARD:5900 semapv:UnspecifiedMatching -DOID:9883 Becker muscular dystrophy oboInOwl:hasDbXref OMIM:300376 semapv:UnspecifiedMatching DOID:9883 Becker muscular dystrophy oboInOwl:hasDbXref ORDO:98895 semapv:UnspecifiedMatching DOID:9883 Becker muscular dystrophy oboInOwl:hasDbXref UMLS:C0699741 semapv:UnspecifiedMatching -DOID:9883 Becker muscular dystrophy skos:exactMatch OMIM:300376 semapv:UnspecifiedMatching DOID:9884 muscular dystrophy oboInOwl:hasDbXref GARD:7922 semapv:UnspecifiedMatching DOID:9884 muscular dystrophy oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching DOID:9884 muscular dystrophy oboInOwl:hasDbXref MESH:D009136 semapv:UnspecifiedMatching DOID:9884 muscular dystrophy oboInOwl:hasDbXref NCI:C84910 semapv:UnspecifiedMatching -DOID:9884 muscular dystrophy oboInOwl:hasDbXref OMIM:158800 semapv:UnspecifiedMatching -DOID:9884 muscular dystrophy oboInOwl:hasDbXref OMIM:159050 semapv:UnspecifiedMatching -DOID:9884 muscular dystrophy oboInOwl:hasDbXref OMIM:309930 semapv:UnspecifiedMatching -DOID:9884 muscular dystrophy oboInOwl:hasDbXref OMIM:309950 semapv:UnspecifiedMatching -DOID:9884 muscular dystrophy oboInOwl:hasDbXref OMIM:310000 semapv:UnspecifiedMatching -DOID:9884 muscular dystrophy oboInOwl:hasDbXref OMIM:310095 semapv:UnspecifiedMatching -DOID:9884 muscular dystrophy oboInOwl:hasDbXref OMIM:600416 semapv:UnspecifiedMatching DOID:9884 muscular dystrophy oboInOwl:hasDbXref UMLS:C0026850 semapv:UnspecifiedMatching DOID:9888 alternating esotropia oboInOwl:hasDbXref ICD10CM:H50.05 semapv:UnspecifiedMatching DOID:9888 alternating esotropia oboInOwl:hasDbXref ICD9CM:378.05 semapv:UnspecifiedMatching @@ -38498,9 +27193,7 @@ DOID:990 congenital heart block oboInOwl:hasDbXref GARD:6164 semapv:UnspecifiedM DOID:990 congenital heart block oboInOwl:hasDbXref ICD10CM:Q24.6 semapv:UnspecifiedMatching DOID:990 congenital heart block oboInOwl:hasDbXref ICD9CM:746.86 semapv:UnspecifiedMatching DOID:990 congenital heart block oboInOwl:hasDbXref MESH:C535758 semapv:UnspecifiedMatching -DOID:990 congenital heart block oboInOwl:hasDbXref OMIM:234700 semapv:UnspecifiedMatching DOID:990 congenital heart block oboInOwl:hasDbXref UMLS:C0149530 semapv:UnspecifiedMatching -DOID:990 congenital heart block skos:exactMatch OMIM:234700 semapv:UnspecifiedMatching DOID:9903 meibomian cyst oboInOwl:hasDbXref ICD10CM:H00.1 semapv:UnspecifiedMatching DOID:9903 meibomian cyst oboInOwl:hasDbXref ICD9CM:373.2 semapv:UnspecifiedMatching DOID:9903 meibomian cyst oboInOwl:hasDbXref MESH:D017043 semapv:UnspecifiedMatching @@ -38569,8 +27262,6 @@ DOID:9952 acute lymphoblastic leukemia oboInOwl:hasDbXref ICD10CM:C91.00 semapv: DOID:9952 acute lymphoblastic leukemia oboInOwl:hasDbXref ICD9CM:204.0 semapv:UnspecifiedMatching DOID:9952 acute lymphoblastic leukemia oboInOwl:hasDbXref NCI:C3167 semapv:UnspecifiedMatching DOID:9952 acute lymphoblastic leukemia oboInOwl:hasDbXref NCI:C7055 semapv:UnspecifiedMatching -DOID:9952 acute lymphoblastic leukemia oboInOwl:hasDbXref OMIM:247640 semapv:UnspecifiedMatching -DOID:9952 acute lymphoblastic leukemia oboInOwl:hasDbXref OMIM:613065 semapv:UnspecifiedMatching DOID:9952 acute lymphoblastic leukemia oboInOwl:hasDbXref ORDO:513 semapv:UnspecifiedMatching DOID:9952 acute lymphoblastic leukemia oboInOwl:hasDbXref UMLS:C0023449 semapv:UnspecifiedMatching DOID:9952 acute lymphoblastic leukemia oboInOwl:hasDbXref UMLS:C1335469 semapv:UnspecifiedMatching @@ -38585,8 +27276,6 @@ DOID:9955 hypoplastic left heart syndrome oboInOwl:hasDbXref ICD10CM:Q23.4 semap DOID:9955 hypoplastic left heart syndrome oboInOwl:hasDbXref ICD9CM:746.7 semapv:UnspecifiedMatching DOID:9955 hypoplastic left heart syndrome oboInOwl:hasDbXref MESH:D018636 semapv:UnspecifiedMatching DOID:9955 hypoplastic left heart syndrome oboInOwl:hasDbXref NCI:C98894 semapv:UnspecifiedMatching -DOID:9955 hypoplastic left heart syndrome oboInOwl:hasDbXref OMIM:241550 semapv:UnspecifiedMatching -DOID:9955 hypoplastic left heart syndrome oboInOwl:hasDbXref OMIM:614435 semapv:UnspecifiedMatching DOID:9955 hypoplastic left heart syndrome oboInOwl:hasDbXref ORDO:2248 semapv:UnspecifiedMatching DOID:9955 hypoplastic left heart syndrome oboInOwl:hasDbXref UMLS:C0152101 semapv:UnspecifiedMatching DOID:9957 periostitis oboInOwl:hasDbXref MESH:D010522 semapv:UnspecifiedMatching @@ -38603,9 +27292,7 @@ DOID:9965 toxoplasmosis oboInOwl:hasDbXref UMLS:C0040558 semapv:UnspecifiedMatch DOID:9969 carotenemia oboInOwl:hasDbXref ICD10CM:E67.1 semapv:UnspecifiedMatching DOID:9969 carotenemia oboInOwl:hasDbXref ICD9CM:278.3 semapv:UnspecifiedMatching DOID:9969 carotenemia oboInOwl:hasDbXref NCI:C26963 semapv:UnspecifiedMatching -DOID:9969 carotenemia oboInOwl:hasDbXref OMIM:115300 semapv:UnspecifiedMatching DOID:9969 carotenemia oboInOwl:hasDbXref UMLS:C0154271 semapv:UnspecifiedMatching -DOID:9969 carotenemia skos:exactMatch OMIM:115300 semapv:UnspecifiedMatching DOID:997 uterine inversion oboInOwl:hasDbXref ICD10CM:N85.5 semapv:UnspecifiedMatching DOID:997 uterine inversion oboInOwl:hasDbXref ICD9CM:665.2 semapv:UnspecifiedMatching DOID:997 uterine inversion oboInOwl:hasDbXref MESH:D019687 semapv:UnspecifiedMatching @@ -38616,9 +27303,7 @@ DOID:9970 obesity oboInOwl:hasDbXref ICD10CM:E66.9 semapv:UnspecifiedMatching DOID:9970 obesity oboInOwl:hasDbXref ICD9CM:278.00 semapv:UnspecifiedMatching DOID:9970 obesity oboInOwl:hasDbXref MESH:D009765 semapv:UnspecifiedMatching DOID:9970 obesity oboInOwl:hasDbXref NCI:C159658 semapv:UnspecifiedMatching -DOID:9970 obesity oboInOwl:hasDbXref OMIM:601665 semapv:UnspecifiedMatching DOID:9970 obesity oboInOwl:hasDbXref UMLS:C0028754 semapv:UnspecifiedMatching -DOID:9970 obesity skos:exactMatch OMIM:601665 semapv:UnspecifiedMatching DOID:9971 hypervitaminosis D oboInOwl:hasDbXref ICD10CM:E67.3 semapv:UnspecifiedMatching DOID:9971 hypervitaminosis D oboInOwl:hasDbXref ICD9CM:278.4 semapv:UnspecifiedMatching DOID:9971 hypervitaminosis D oboInOwl:hasDbXref UMLS:C1442839 semapv:UnspecifiedMatching diff --git a/src/mappings/mondo-nando.sssom.tsv b/src/mappings/mondo-nando.sssom.tsv new file mode 100644 index 00000000..25401eee --- /dev/null +++ b/src/mappings/mondo-nando.sssom.tsv @@ -0,0 +1,2366 @@ +# creator_id: +# - orcid:0000-0003-0011-764X +# - orcid:0000-0002-0170-9172 +# curie_map: +# MONDO: http://purl.obolibrary.org/obo/MONDO_ +# NANDO: http://nanbyodata.jp/ontology/NANDO_ +# orcid: https://orcid.org/ +# owl: http://www.w3.org/2002/07/owl# +# rdf: http://www.w3.org/1999/02/22-rdf-syntax-ns# +# rdfs: http://www.w3.org/2000/01/rdf-schema# +# semapv: https://w3id.org/semapv/vocab/ +# skos: http://www.w3.org/2004/02/skos/core# +# sssom: https://w3id.org/sssom/ +# license: https://creativecommons.org/licenses/by/4.0/ +# mapping_provider: MONDO:NANDO +# mapping_set_description: This mapping set is manually curated by the NANDO team at +# nanbyodata.jp. +# mapping_set_id: https://w3id.org/sssom/mappings/baead4f2-bc09-46a5-9b58-4e56c305aeb2 +# mapping_set_title: NANDO - Mondo mappings provided by nanbyodata.jp +subject_id subject_label predicate_id object_id object_label mapping_justification +MONDO:0000050 isolated congenital growth hormone deficiency skos:closeMatch NANDO:2200317 Congenital growth hormone deficiency semapv:MappingInversion +MONDO:0000087 polymicrogyria skos:closeMatch NANDO:1201071 Polymicrogyria semapv:MappingInversion +MONDO:0000088 precocious puberty skos:closeMatch NANDO:2100135 Precocious puberty semapv:MappingInversion +MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome skos:closeMatch NANDO:1200334 ICF syndrome semapv:MappingInversion +MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome skos:closeMatch NANDO:2200708 ICF syndrome semapv:MappingInversion +MONDO:0000147 polyposis skos:closeMatch NANDO:2100257 Polyposis semapv:MappingInversion +MONDO:0000153 transposition of the great arteries skos:closeMatch NANDO:2200258 Complete transposition of the great arteries semapv:MappingInversion +MONDO:0000188 GLUT1 deficiency syndrome skos:closeMatch NANDO:1200799 Glucose transporter 1 deficiency semapv:MappingInversion +MONDO:0000190 ventricular fibrillation skos:closeMatch NANDO:2100052 Ventricular fibrillation semapv:MappingInversion +MONDO:0000190 ventricular fibrillation skos:closeMatch NANDO:2200227 Ventricular fibrillation semapv:MappingInversion +MONDO:0000351 disorder of methionine catabolism skos:closeMatch NANDO:2200475 Hypermethioninemia semapv:MappingInversion +MONDO:0000355 Ullrich congenital muscular dystrophy skos:closeMatch NANDO:1200215 Ullrich disease semapv:MappingInversion +MONDO:0000355 Ullrich congenital muscular dystrophy skos:closeMatch NANDO:2200862 Ullrich congenital muscular dystrophy semapv:MappingInversion +MONDO:0000390 vitelliform macular dystrophy skos:closeMatch NANDO:1200932 Vitelliform macular dystrophy semapv:MappingInversion +MONDO:0000437 cerebellar ataxia skos:closeMatch NANDO:1200037 Spinocerebellar degeneration semapv:MappingInversion +MONDO:0000437 cerebellar ataxia skos:closeMatch NANDO:2100238 Spinocerebellar degeneration semapv:MappingInversion +MONDO:0000437 cerebellar ataxia skos:closeMatch NANDO:2200882 Spinocerebellar degeneration semapv:MappingInversion +MONDO:0000450 secondary progressive multiple sclerosis skos:closeMatch NANDO:1200026 Secondary progressive multiple sclerosis semapv:MappingInversion +MONDO:0000450 secondary progressive multiple sclerosis skos:closeMatch NANDO:2201321 Secondary progressive multiple sclerosis semapv:MappingInversion +MONDO:0000451 primary progressive multiple sclerosis skos:closeMatch NANDO:1200025 Primary progressive multiple sclerosis semapv:MappingInversion +MONDO:0000451 primary progressive multiple sclerosis skos:closeMatch NANDO:2201320 Primary progressive multiple sclerosis semapv:MappingInversion +MONDO:0000455 cone dystrophy skos:closeMatch NANDO:1200936 Cone dystrophy semapv:MappingInversion +MONDO:0000456 cerebral creatine deficiency syndrome skos:closeMatch NANDO:1201032 Cerebral creatine deficiency syndromes semapv:MappingInversion +MONDO:0000456 cerebral creatine deficiency syndrome skos:closeMatch NANDO:2100226 Cerebral creatine deficiency syndromes semapv:MappingInversion +MONDO:0000456 cerebral creatine deficiency syndrome skos:closeMatch NANDO:2200842 Cerebral creatine deficiency syndrome semapv:MappingInversion +MONDO:0000468 third-degree atrioventricular block skos:closeMatch NANDO:2200214 Complete atrio-ventricular block semapv:MappingInversion +MONDO:0000521 salivary gland carcinoma skos:closeMatch NANDO:2200076 Salivary grand carcinoma semapv:MappingInversion +MONDO:0000608 familial juvenile hyperuricemic nephropathy skos:closeMatch NANDO:2100014 Familial juvenile hyperuricemic nephropathy semapv:MappingInversion +MONDO:0000608 familial juvenile hyperuricemic nephropathy skos:closeMatch NANDO:2200139 Familial juvenile hyperuricemic nephropathy semapv:MappingInversion +MONDO:0000640 central nervous system primitive neuroectodermal neoplasm skos:closeMatch NANDO:2200099 Primitive neuroectodermal tumour of the central nervous system semapv:MappingInversion +MONDO:0000640 central nervous system primitive neuroectodermal neoplasm skos:closeMatch NANDO:2200100 Primitive neuroectodermal tumour of the central nervous system semapv:MappingInversion +MONDO:0000721 xanthinuria skos:closeMatch NANDO:2200588 Xanthinuria semapv:MappingInversion +MONDO:0000811 anomalous left coronary artery from the pulmonary artery skos:closeMatch NANDO:2200242 Abnormal origin of left coronary artery from pulmonary artery semapv:MappingInversion +MONDO:0000839 obsolete congenital abnormality skos:closeMatch NANDO:1200957 Congenital anomalies syndrome semapv:MappingInversion +MONDO:0000872 B-cell childhood acute lymphoblastic leukemia skos:closeMatch NANDO:2200002 Mature B-cell lymphoblastic leukemia semapv:MappingInversion +MONDO:0000875 adult acute monocytic leukemia skos:closeMatch NANDO:2200008 Acute monocytic leukemia semapv:MappingInversion +MONDO:0000875 adult acute monocytic leukemia skos:closeMatch NANDO:2200009 Acute monocytic leukemia semapv:MappingInversion +MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch NANDO:1200522 Dystonia 11 semapv:MappingInversion +MONDO:0000940 trypanosomiasis skos:closeMatch NANDO:2200774 Trypanosomiasis semapv:MappingInversion +MONDO:0000984 thalassemia skos:closeMatch NANDO:2200626 Thalassemia semapv:MappingInversion +MONDO:0000995 familial periodic paralysis skos:closeMatch NANDO:1200502 Hereditary periodic paralysis semapv:MappingInversion +MONDO:0001083 Fanconi renotubular syndrome skos:closeMatch NANDO:2100027 Fanconi syndrome semapv:MappingInversion +MONDO:0001083 Fanconi renotubular syndrome skos:closeMatch NANDO:2200187 Fanconi syndrome semapv:MappingInversion +MONDO:0001085 interstitial nephritis skos:closeMatch NANDO:2200136 Tubulointerstitial nephritis semapv:MappingInversion +MONDO:0001105 renal hypertension skos:closeMatch NANDO:2100016 Renovascular hypertension semapv:MappingInversion +MONDO:0001105 renal hypertension skos:closeMatch NANDO:2200141 Renovascular hypertension semapv:MappingInversion +MONDO:0001110 chronic pyelonephritis skos:closeMatch NANDO:2100012 Chronic pyelonephritis semapv:MappingInversion +MONDO:0001110 chronic pyelonephritis skos:closeMatch NANDO:2200137 Chronic pyelonephritis semapv:MappingInversion +MONDO:0001115 familial polycythemia skos:closeMatch NANDO:2100187 Familial polycythemia semapv:MappingInversion +MONDO:0001115 familial polycythemia skos:closeMatch NANDO:2200644 Familial polycythemia semapv:MappingInversion +MONDO:0001220 hypoparathyroidism skos:closeMatch NANDO:1200775 Hypoparathyroidism semapv:MappingInversion +MONDO:0001220 hypoparathyroidism skos:closeMatch NANDO:2100124 Hypoparathyroidism semapv:MappingInversion +MONDO:0001220 hypoparathyroidism skos:closeMatch NANDO:2200345 Hypoparathyroidism semapv:MappingInversion +MONDO:0001243 disseminated intravascular coagulation skos:closeMatch NANDO:2200639 Disseminated intravascular coagulation semapv:MappingInversion +MONDO:0001261 Mobitz type II atrioventricular block skos:closeMatch NANDO:2100044 Mobitz type II second degree atrioventricular block semapv:MappingInversion +MONDO:0001261 Mobitz type II atrioventricular block skos:closeMatch NANDO:2200213 Mobitz type II second degree atrioventricular block semapv:MappingInversion +MONDO:0001298 congenital mitral valve insufficiency skos:closeMatch NANDO:2200303 Mitral regurgitation semapv:MappingInversion +MONDO:0001324 obsolete hyperandrogenism skos:closeMatch NANDO:2200380 Hyperandrogenism semapv:MappingInversion +MONDO:0001328 thyroid hormone resistance syndrome skos:closeMatch NANDO:1200395 Resistance to thyroid hormone semapv:MappingInversion +MONDO:0001328 thyroid hormone resistance syndrome skos:closeMatch NANDO:2100121 Resistance to thyroid hormone semapv:MappingInversion +MONDO:0001328 thyroid hormone resistance syndrome skos:closeMatch NANDO:2200341 Resistance to thyroid hormone semapv:MappingInversion +MONDO:0001336 familial hyperlipidemia skos:closeMatch NANDO:2200603 Familial combined hyperlipidemia semapv:MappingInversion +MONDO:0001341 selective IgA deficiency disease skos:closeMatch NANDO:1200347 Selective IgA deficiency semapv:MappingInversion +MONDO:0001341 selective IgA deficiency disease skos:closeMatch NANDO:2200720 Selective IgA deficiency semapv:MappingInversion +MONDO:0001347 facioscapulohumeral muscular dystrophy skos:closeMatch NANDO:1200491 Facioscapulohumeral muscular dystrophy semapv:MappingInversion +MONDO:0001347 facioscapulohumeral muscular dystrophy skos:closeMatch NANDO:2200859 Facioscapulohumeral muscular dystrophy semapv:MappingInversion +MONDO:0001414 osteopoikilosis skos:closeMatch NANDO:2201024 Osteopoikilosis semapv:MappingInversion +MONDO:0001422 primary aldosteronism skos:closeMatch NANDO:2200361 Aldosteronism semapv:MappingInversion +MONDO:0001437 pulmonary alveolar proteinosis skos:closeMatch NANDO:1200746 Pulmonary alveolar proteinosis semapv:MappingInversion +MONDO:0001493 chronic pulmonary heart disease skos:closeMatch NANDO:2200299 Chronic cor pulmonale semapv:MappingInversion +MONDO:0001516 spinal muscular atrophy skos:closeMatch NANDO:1200003 Spinal muscular atrophy semapv:MappingInversion +MONDO:0001516 spinal muscular atrophy skos:closeMatch NANDO:2100231 Spinal muscular atrophy semapv:MappingInversion +MONDO:0001516 spinal muscular atrophy skos:closeMatch NANDO:2200853 Spinal muscular atrophy semapv:MappingInversion +MONDO:0001558 Potter sequence skos:closeMatch NANDO:2200157 Potter syndrome semapv:MappingInversion +MONDO:0001586 mucopolysaccharidosis type 1 skos:closeMatch NANDO:2200547 Mucopolysaccharidosis type I semapv:MappingInversion +MONDO:0001586 mucopolysaccharidosis type 1 skos:closeMatch NANDO:2201168 Hurler Disease semapv:MappingInversion +MONDO:0001645 crescentic glomerulonephritis skos:closeMatch NANDO:1200714 Rapidly progressive glomerulonephritis semapv:MappingInversion +MONDO:0001645 crescentic glomerulonephritis skos:closeMatch NANDO:1200723 Crescentic glomerulonephritis semapv:MappingInversion +MONDO:0001676 erythropoietic protoporphyria skos:closeMatch NANDO:1200815 Erythropoietic protoporphyria semapv:MappingInversion +MONDO:0001676 erythropoietic protoporphyria skos:closeMatch NANDO:2201266 Erythropoietic protoporphyria semapv:MappingInversion +MONDO:0001700 megaloblastic anemia skos:closeMatch NANDO:2100176 Megaloblastic anemia semapv:MappingInversion +MONDO:0001700 megaloblastic anemia skos:closeMatch NANDO:2200612 Megaloblastic anemia semapv:MappingInversion +MONDO:0001705 pure red-cell aplasia skos:closeMatch NANDO:2100177 Pure red cell aplasia semapv:MappingInversion +MONDO:0001713 inherited aplastic anemia skos:closeMatch NANDO:1200302 Congenital aplastic anemia semapv:MappingInversion +MONDO:0001713 inherited aplastic anemia skos:closeMatch NANDO:2201275 Congenital aplastic anemia semapv:MappingInversion +MONDO:0001734 tuberous sclerosis skos:closeMatch NANDO:1200607 Tuberous sclerosis complex semapv:MappingInversion +MONDO:0001734 tuberous sclerosis skos:closeMatch NANDO:2200826 Tuberous sclerosis complex semapv:MappingInversion +MONDO:0001741 hyperparathyroidism skos:closeMatch NANDO:2100123 Hyperparathyroidism semapv:MappingInversion +MONDO:0001741 hyperparathyroidism skos:closeMatch NANDO:2200343 Hyperparathyroidism semapv:MappingInversion +MONDO:0001790 spinal cord lipoma skos:closeMatch NANDO:2200815 Spinal lipoma semapv:MappingInversion +MONDO:0001823 sick sinus syndrome skos:closeMatch NANDO:2100043 Sick sinus syndrome semapv:MappingInversion +MONDO:0001823 sick sinus syndrome skos:closeMatch NANDO:2200212 Sick sinus syndrome semapv:MappingInversion +MONDO:0001909 renal tubular acidosis skos:closeMatch NANDO:2100019 Renal tubular acidosis semapv:MappingInversion +MONDO:0001909 renal tubular acidosis skos:closeMatch NANDO:2200144 Renal tubular acidosis semapv:MappingInversion +MONDO:0001927 pulmonary valve insufficiency skos:closeMatch NANDO:2200305 Pulmonary valve regurgitation semapv:MappingInversion +MONDO:0001946 obsolete hyperestrogenism skos:closeMatch NANDO:2200379 Hyperestrogenism semapv:MappingInversion +MONDO:0001969 mixed gonadal dysgenesis skos:closeMatch NANDO:2200388 Mixed gonadal dysgenesis semapv:MappingInversion +MONDO:0001982 Niemann-Pick disease skos:closeMatch NANDO:2200561 Niemann-Pick disease semapv:MappingInversion +MONDO:0002012 methylmalonic acidemia skos:closeMatch NANDO:1200793 Methylmalonic acidemia semapv:MappingInversion +MONDO:0002012 methylmalonic acidemia skos:closeMatch NANDO:2200491 Methylmalonic acidemia semapv:MappingInversion +MONDO:0002013 lymphangioma skos:closeMatch NANDO:2201032 Lymphangioma semapv:MappingInversion +MONDO:0002070 ventricular septal defect skos:closeMatch NANDO:2100087 Ventricular septal defect semapv:MappingInversion +MONDO:0002070 ventricular septal defect skos:closeMatch NANDO:2200270 Ventricular septal defect semapv:MappingInversion +MONDO:0002108 thyroid cancer skos:closeMatch NANDO:2200074 Thyroid cancer semapv:MappingInversion +MONDO:0002145 disorder of sexual differentiation skos:closeMatch NANDO:2100140 Disorders of sex development semapv:MappingInversion +MONDO:0002241 factor XIII deficiency skos:closeMatch NANDO:2200681 Factor XIII deficiency semapv:MappingInversion +MONDO:0002244 factor VII deficiency skos:closeMatch NANDO:2200675 Factor VII deficiency semapv:MappingInversion +MONDO:0002247 factor X deficiency skos:closeMatch NANDO:2200678 Factor X deficiency semapv:MappingInversion +MONDO:0002304 protein S deficiency skos:closeMatch NANDO:1201081 Protein S deficiency semapv:MappingInversion +MONDO:0002304 protein S deficiency skos:closeMatch NANDO:2100198 Protein S deficiency semapv:MappingInversion +MONDO:0002304 protein S deficiency skos:closeMatch NANDO:2200690 Protein S deficiency semapv:MappingInversion +MONDO:0002327 intracranial cavernous angioma skos:closeMatch NANDO:2200852 Cavernous angioma of the brain and spinal cord semapv:MappingInversion +MONDO:0002335 chronic inflammatory demyelinating polyneuritis skos:closeMatch NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion +MONDO:0002335 chronic inflammatory demyelinating polyneuritis skos:closeMatch NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion +MONDO:0002335 chronic inflammatory demyelinating polyneuritis skos:closeMatch NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion +MONDO:0002412 disorder of glycogen metabolism skos:closeMatch NANDO:1200838 Hepatic glycogen storage disease semapv:MappingInversion +MONDO:0002413 glycogen storage disease I skos:closeMatch NANDO:1200840 Hepatic glycogen storage disease type Ia semapv:MappingInversion +MONDO:0002413 glycogen storage disease I skos:closeMatch NANDO:1201018 Hepatic glycogen storage disease type I semapv:MappingInversion +MONDO:0002413 glycogen storage disease I skos:closeMatch NANDO:2200538 Glycogen storage disease type I semapv:MappingInversion +MONDO:0002429 idiopathic interstitial pneumonia skos:closeMatch NANDO:1200416 Idiopathic interstitial pneumonia semapv:MappingInversion +MONDO:0002429 idiopathic interstitial pneumonia skos:closeMatch NANDO:2200199 Idiopathic interstitial pneumonia semapv:MappingInversion +MONDO:0002442 long QT syndrome skos:closeMatch NANDO:2100053 Long QT syndrome semapv:MappingInversion +MONDO:0002442 long QT syndrome skos:closeMatch NANDO:2200228 Long qt syndrome semapv:MappingInversion +MONDO:0002461 membranoproliferative glomerulonephritis skos:closeMatch NANDO:1200737 Lobular membranoproliferative glomerulonephritis type I semapv:MappingInversion +MONDO:0002461 membranoproliferative glomerulonephritis skos:closeMatch NANDO:2200123 Membranoproliferative glomerulonephritis semapv:MappingInversion +MONDO:0002470 photosensitive trichothiodystrophy skos:closeMatch NANDO:1200626 Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature semapv:MappingInversion +MONDO:0002473 cystic kidney disease skos:closeMatch NANDO:2200172 Simple renal cyst semapv:MappingInversion +MONDO:0002474 primary hyperoxaluria skos:closeMatch NANDO:2200503 Primary hyperoxaluria semapv:MappingInversion +MONDO:0002540 childhood oligodendroglioma skos:closeMatch NANDO:2200089 Oligodendroglioma semapv:MappingInversion +MONDO:0002543 adult oligodendroglioma skos:closeMatch NANDO:2200089 Oligodendroglioma semapv:MappingInversion +MONDO:0002546 schwannoma skos:closeMatch NANDO:2200103 Neurinoma semapv:MappingInversion +MONDO:0002561 lysosomal storage disease skos:closeMatch NANDO:1200055 Lysosomal storage disease semapv:MappingInversion +MONDO:0002561 lysosomal storage disease skos:closeMatch NANDO:2100165 Lysosomal storage disease semapv:MappingInversion +MONDO:0002568 tracheal stenosis skos:closeMatch NANDO:2200194 Tracheal stenosis semapv:MappingInversion +MONDO:0002623 pediatric osteosarcoma skos:closeMatch NANDO:2200048 Osteosarcoma semapv:MappingInversion +MONDO:0002637 histiocytosis skos:closeMatch NANDO:2100005 Histiocytosis semapv:MappingInversion +MONDO:0002676 adult fibrosarcoma skos:closeMatch NANDO:2200060 Fibrosarcoma semapv:MappingInversion +MONDO:0002678 pediatric fibrosarcoma skos:closeMatch NANDO:2200060 Fibrosarcoma semapv:MappingInversion +MONDO:0002714 central nervous system cancer skos:closeMatch NANDO:2100007 Central nervous system tumors semapv:MappingInversion +MONDO:0002718 central nervous system teratoma skos:closeMatch NANDO:2200104 Teratoma of the central nervous system semapv:MappingInversion +MONDO:0002728 rhabdoid tumor skos:closeMatch NANDO:2200057 Malignant rhabdoid tumour semapv:MappingInversion +MONDO:0002794 adult medulloblastoma skos:closeMatch NANDO:2200090 Medulloblastoma semapv:MappingInversion +MONDO:0002797 childhood medulloblastoma skos:closeMatch NANDO:2200090 Medulloblastoma semapv:MappingInversion +MONDO:0002807 bronchial neoplasm skos:closeMatch NANDO:2200081 Bronchial tumour semapv:MappingInversion +MONDO:0002869 heart valve disorder skos:closeMatch NANDO:2100105 Valvular heart disease semapv:MappingInversion +MONDO:0002870 tricuspid valve insufficiency skos:closeMatch NANDO:2200301 Tricuspid valve regurgitation semapv:MappingInversion +MONDO:0002921 congenital structural myopathy skos:closeMatch NANDO:1200482 Centronuclear myopathy semapv:MappingInversion +MONDO:0002921 congenital structural myopathy skos:closeMatch NANDO:2200867 Myotubular myopathy semapv:MappingInversion +MONDO:0002926 clear cell sarcoma skos:closeMatch NANDO:2200062 Clear cell sarcoma semapv:MappingInversion +MONDO:0002933 osteosclerosis skos:closeMatch NANDO:2201022 Osteosclerotic diseases semapv:MappingInversion +MONDO:0003002 dysgerminoma skos:closeMatch NANDO:2200066 Dysgerminoma semapv:MappingInversion +MONDO:0003057 pediatric meningioma skos:closeMatch NANDO:2200094 Meningioma semapv:MappingInversion +MONDO:0003075 bilateral retinoblastoma skos:closeMatch NANDO:2201038 Bilateral retinoblastoma semapv:MappingInversion +MONDO:0003136 anti-basement membrane glomerulonephritis skos:closeMatch NANDO:1200717 Anti-GBM rapidly progressive glomerulonephritis semapv:MappingInversion +MONDO:0003139 mesangial proliferative glomerulonephritis skos:closeMatch NANDO:1201029 Mesangial proliferative glomerulonephritis semapv:MappingInversion +MONDO:0003139 mesangial proliferative glomerulonephritis skos:closeMatch NANDO:2200122 Mesangial proliferative glomerulonephritis semapv:MappingInversion +MONDO:0003157 disappearing bone disease skos:closeMatch NANDO:1200878 Lymphangiomatosis / Gorham-Stout disease semapv:MappingInversion +MONDO:0003157 disappearing bone disease skos:closeMatch NANDO:1200880 obsolete Gorham disease semapv:MappingInversion +MONDO:0003330 urinary tract obstruction skos:closeMatch NANDO:2200178 Obstructive uropathy semapv:MappingInversion +MONDO:0003517 mature teratoma skos:closeMatch NANDO:2200105 Mature teratoma semapv:MappingInversion +MONDO:0003523 gastrin-producing neuroendocrine tumor skos:closeMatch NANDO:2200395 Gastrinoma semapv:MappingInversion +MONDO:0003585 adult liposarcoma skos:closeMatch NANDO:2200065 Liposarcoma semapv:MappingInversion +MONDO:0003587 pediatric liposarcoma skos:closeMatch NANDO:2200065 Liposarcoma semapv:MappingInversion +MONDO:0003659 pediatric lymphoma skos:closeMatch NANDO:2100004 Lymphoma semapv:MappingInversion +MONDO:0003660 adult lymphoma skos:closeMatch NANDO:2100004 Lymphoma semapv:MappingInversion +MONDO:0003664 hemolytic anemia skos:closeMatch NANDO:2200636 Hemolytic anemia semapv:MappingInversion +MONDO:0003689 familial hemolytic anemia skos:closeMatch NANDO:2100183 Hereditary hemolytic anemia semapv:MappingInversion +MONDO:0003759 childhood ovarian yolk sac tumor skos:closeMatch NANDO:2200069 Yolk sac tumour semapv:MappingInversion +MONDO:0003778 inborn error of immunity skos:closeMatch NANDO:1200320 Primary immunodeficiency syndrome semapv:MappingInversion +MONDO:0003778 inborn error of immunity skos:closeMatch NANDO:2100204 Immunodeficiency semapv:MappingInversion +MONDO:0003832 complement deficiency skos:closeMatch NANDO:1200364 Inherited deficiency of complement system semapv:MappingInversion +MONDO:0003832 complement deficiency skos:closeMatch NANDO:2200776 Inherited deficiency of complement system semapv:MappingInversion +MONDO:0003900 connective tissue disorder skos:closeMatch NANDO:2100172 Connective tissue disorder semapv:MappingInversion +MONDO:0003924 adrenal cortex adenoma skos:closeMatch NANDO:2200352 Adrenal adenoma semapv:MappingInversion +MONDO:0003947 hyper-IgM syndrome skos:closeMatch NANDO:1200345 Hyper-IgM syndrome semapv:MappingInversion +MONDO:0003947 hyper-IgM syndrome skos:closeMatch NANDO:2200718 Hyper-IgM syndrome semapv:MappingInversion +MONDO:0003964 myositis ossificans skos:closeMatch NANDO:1200871 Fibrodysplasia ossificans progressiva semapv:MappingInversion +MONDO:0003964 myositis ossificans skos:closeMatch NANDO:2201020 Fibrodysplasia ossificans progressiva semapv:MappingInversion +MONDO:0004000 childhood pilocytic astrocytoma skos:closeMatch NANDO:2200084 Pilocytic astrocytoma semapv:MappingInversion +MONDO:0004069 inborn mitochondrial metabolism disorder skos:closeMatch NANDO:1200173 Mitochondrial diseases semapv:MappingInversion +MONDO:0004069 inborn mitochondrial metabolism disorder skos:closeMatch NANDO:2100163 Mitochondrial diseases semapv:MappingInversion +MONDO:0004218 childhood germ cell brain tumor skos:closeMatch NANDO:2200108 Intracranial germ cell tumour semapv:MappingInversion +MONDO:0004335 digestive system disorder skos:closeMatch NANDO:1100013 Gastrointestinal disease semapv:MappingInversion +MONDO:0004355 childhood leukemia skos:closeMatch NANDO:2100002 Leukemia semapv:MappingInversion +MONDO:0004425 hyperthyroidism skos:closeMatch NANDO:2100119 Hyperthyroidism semapv:MappingInversion +MONDO:0004425 hyperthyroidism skos:closeMatch NANDO:2200329 Hyperthyroidism semapv:MappingInversion +MONDO:0004471 bacterial arthritis skos:closeMatch NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome semapv:MappingInversion +MONDO:0004591 impetigo herpetiformis skos:closeMatch NANDO:1200243 Impetigo herpetiformis semapv:MappingInversion +MONDO:0004691 autosomal dominant polycystic kidney disease skos:closeMatch NANDO:1200368 Autosomal dominant polycystic kidney disease semapv:MappingInversion +MONDO:0004691 autosomal dominant polycystic kidney disease skos:closeMatch NANDO:2200153 Autosomal dominant polycystic kidney disease semapv:MappingInversion +MONDO:0004737 homocystinuria skos:closeMatch NANDO:1201038 Homocystinuria semapv:MappingInversion +MONDO:0004737 homocystinuria skos:closeMatch NANDO:2200474 Homocystinuria semapv:MappingInversion +MONDO:0004739 urea cycle disorder skos:closeMatch NANDO:1200802 Urea cycle disorder semapv:MappingInversion +MONDO:0004782 diabetes insipidus skos:closeMatch NANDO:2100117 Diabetes insipidus semapv:MappingInversion +MONDO:0004822 bronchiectasis skos:closeMatch NANDO:2100036 Bronchiectasis semapv:MappingInversion +MONDO:0004822 bronchiectasis skos:closeMatch NANDO:2200206 Bronchiectasis semapv:MappingInversion +MONDO:0004890 partial central choroid dystrophy skos:closeMatch NANDO:1200939 Central areolar choroidal dystrophy semapv:MappingInversion +MONDO:0004933 hypoplastic left heart syndrome skos:closeMatch NANDO:1200705 Hypoplastic left heart syndrome semapv:MappingInversion +MONDO:0004933 hypoplastic left heart syndrome skos:closeMatch NANDO:2100071 Hypoplastic left heart syndrome semapv:MappingInversion +MONDO:0004933 hypoplastic left heart syndrome skos:closeMatch NANDO:2200249 Hypoplastic left heart syndrome semapv:MappingInversion +MONDO:0004952 Hodgkins lymphoma skos:closeMatch NANDO:2200024 Hodgkin lymphoma semapv:MappingInversion +MONDO:0004955 obsolete metabolic syndrome skos:closeMatch NANDO:1100002 Metabolic disease semapv:MappingInversion +MONDO:0004963 T-cell acute lymphoblastic leukemia skos:closeMatch NANDO:2200003 T-cell lymphoblastic leukemia semapv:MappingInversion +MONDO:0004964 peripheral T-cell lymphoma, not otherwise specified skos:closeMatch NANDO:2200028 Peripheral T-cell lymphoma, not otherwise specified semapv:MappingInversion +MONDO:0004974 adrenal gland pheochromocytoma skos:closeMatch NANDO:2200078 Pheochromocytoma semapv:MappingInversion +MONDO:0004976 amyotrophic lateral sclerosis skos:closeMatch NANDO:1200002 Amyotrophic lateral sclerosis semapv:MappingInversion +MONDO:0004977 angioimmunoblastic T-cell lymphoma skos:closeMatch NANDO:2200029 Angioimmunoblastic T-cell lymphoma semapv:MappingInversion +MONDO:0004978 obsolete aortic stenosis skos:closeMatch NANDO:2100098 Aortic stenosis semapv:MappingInversion +MONDO:0004981 atrial fibrillation skos:closeMatch NANDO:2100051 Atrial fibrillation semapv:MappingInversion +MONDO:0004981 atrial fibrillation skos:closeMatch NANDO:2200226 Atrial fibrillation semapv:MappingInversion +MONDO:0004995 cardiovascular disorder skos:closeMatch NANDO:1100005 Cardiovascular disease semapv:MappingInversion +MONDO:0004997 chondroblastoma skos:closeMatch NANDO:2200051 Chondroblastoma semapv:MappingInversion +MONDO:0005006 clear cell sarcoma of kidney skos:closeMatch NANDO:2200044 Clear cell sarcoma of the kidney semapv:MappingInversion +MONDO:0005011 Crohn disease skos:closeMatch NANDO:1200444 Crohn's disease semapv:MappingInversion +MONDO:0005011 Crohn disease skos:closeMatch NANDO:1200446 Colonic Crohn's disease semapv:MappingInversion +MONDO:0005011 Crohn disease skos:closeMatch NANDO:2200921 Crohn's disease semapv:MappingInversion +MONDO:0005015 diabetes mellitus skos:closeMatch NANDO:2100157 Diabetes semapv:MappingInversion +MONDO:0005015 diabetes mellitus skos:closeMatch NANDO:2100158 Diabetes semapv:MappingInversion +MONDO:0005021 dilated cardiomyopathy skos:closeMatch NANDO:2100057 Dilated cardiomyopathy semapv:MappingInversion +MONDO:0005021 dilated cardiomyopathy skos:closeMatch NANDO:2200232 Dilated cardiomyopathy semapv:MappingInversion +MONDO:0005029 essential thrombocythemia skos:closeMatch NANDO:2100194 Essential thrombocythemia semapv:MappingInversion +MONDO:0005029 essential thrombocythemia skos:closeMatch NANDO:2200655 Essential thrombocythemia semapv:MappingInversion +MONDO:0005035 ganglioneuroblastoma skos:closeMatch NANDO:2200041 Ganglioneuroblastoma semapv:MappingInversion +MONDO:0005045 hypertrophic cardiomyopathy skos:closeMatch NANDO:1200286 Hypertrophic cardiomyopathy semapv:MappingInversion +MONDO:0005045 hypertrophic cardiomyopathy skos:closeMatch NANDO:1200288 Hypertrophic obstructive cardiomyopathy semapv:MappingInversion +MONDO:0005045 hypertrophic cardiomyopathy skos:closeMatch NANDO:2100054 Hypertrophic cardiomyopathy semapv:MappingInversion +MONDO:0005045 hypertrophic cardiomyopathy skos:closeMatch NANDO:2200229 Hypertrophic cardiomyopathy semapv:MappingInversion +MONDO:0005045 hypertrophic cardiomyopathy skos:closeMatch NANDO:2201042 Hypertrophic obstructive cardiomyopathy semapv:MappingInversion +MONDO:0005046 immune system disorder skos:closeMatch NANDO:1100004 Immune system disease semapv:MappingInversion +MONDO:0005046 immune system disorder skos:closeMatch NANDO:2100202 Immune system disease semapv:MappingInversion +MONDO:0005058 leiomyosarcoma skos:closeMatch NANDO:2200064 Leiomyosarcoma semapv:MappingInversion +MONDO:0005059 leukemia skos:closeMatch NANDO:2100002 Leukemia semapv:MappingInversion +MONDO:0005060 liposarcoma skos:closeMatch NANDO:2200065 Liposarcoma semapv:MappingInversion +MONDO:0005062 lymphoma skos:closeMatch NANDO:2100004 Lymphoma semapv:MappingInversion +MONDO:0005066 metabolic disease skos:closeMatch NANDO:1100002 Metabolic disease semapv:MappingInversion +MONDO:0005068 myocardial infarction skos:closeMatch NANDO:2200248 Myocardial infarction semapv:MappingInversion +MONDO:0005072 neuroblastoma skos:closeMatch NANDO:2200040 Neuroblastoma semapv:MappingInversion +MONDO:0005086 renal cell carcinoma skos:closeMatch NANDO:2200045 Renal cell carcinoma semapv:MappingInversion +MONDO:0005087 respiratory system disorder skos:closeMatch NANDO:1100010 Respiratory disease semapv:MappingInversion +MONDO:0005093 skin disorder skos:closeMatch NANDO:2100281 Skin disease semapv:MappingInversion +MONDO:0005100 systemic sclerosis skos:closeMatch NANDO:1200277 Systemic sclerosis semapv:MappingInversion +MONDO:0005100 systemic sclerosis skos:closeMatch NANDO:2200429 Systemic sclerosis semapv:MappingInversion +MONDO:0005101 ulcerative colitis skos:closeMatch NANDO:1200449 Ulcerative colitis semapv:MappingInversion +MONDO:0005101 ulcerative colitis skos:closeMatch NANDO:2200920 Ulcerative colitis semapv:MappingInversion +MONDO:0005102 undifferentiated (embryonal) sarcoma skos:closeMatch NANDO:2200058 Undifferentiated sarcoma semapv:MappingInversion +MONDO:0005105 melanoma skos:closeMatch NANDO:2200077 Malignant melanoma semapv:MappingInversion +MONDO:0005109 HIV infectious disease skos:closeMatch NANDO:2200810 HIV infection semapv:MappingInversion +MONDO:0005147 type 1 diabetes mellitus skos:closeMatch NANDO:2200460 Diabetes mellitus type 1 semapv:MappingInversion +MONDO:0005148 type 2 diabetes mellitus skos:closeMatch NANDO:2200461 Diabetes mellitus type 2 semapv:MappingInversion +MONDO:0005151 endocrine system disorder skos:closeMatch NANDO:1100009 Endocrine disease semapv:MappingInversion +MONDO:0005151 endocrine system disorder skos:closeMatch NANDO:2100109 Endocrine disease semapv:MappingInversion +MONDO:0005152 hypopituitarism skos:closeMatch NANDO:1200387 Hypopituitarism syndrome semapv:MappingInversion +MONDO:0005152 hypopituitarism skos:closeMatch NANDO:2100110 Hypopituitarism semapv:MappingInversion +MONDO:0005155 cirrhosis of liver skos:closeMatch NANDO:2100268 Liver cirrhosis semapv:MappingInversion +MONDO:0005155 cirrhosis of liver skos:closeMatch NANDO:2200937 Liver cirrhosis semapv:MappingInversion +MONDO:0005160 aortic aneurysm skos:closeMatch NANDO:2100101 Aortic aneurysm semapv:MappingInversion +MONDO:0005160 aortic aneurysm skos:closeMatch NANDO:2200294 Aortic aneurysm semapv:MappingInversion +MONDO:0005164 fibrosarcoma skos:closeMatch NANDO:2200060 Fibrosarcoma semapv:MappingInversion +MONDO:0005180 Parkinson disease skos:closeMatch NANDO:1200010 Parkinson's disease semapv:MappingInversion +MONDO:0005181 progressive external ophthalmoplegia skos:closeMatch NANDO:1200174 Chronic progressive external ophthalmoplegia semapv:MappingInversion +MONDO:0005201 restrictive cardiomyopathy skos:closeMatch NANDO:1200292 Restrictive cardiomyopathy semapv:MappingInversion +MONDO:0005201 restrictive cardiomyopathy skos:closeMatch NANDO:1200293 Idiopathic restrictive cardiomyopathy semapv:MappingInversion +MONDO:0005201 restrictive cardiomyopathy skos:closeMatch NANDO:2100058 Restrictive cardiomyopathy semapv:MappingInversion +MONDO:0005201 restrictive cardiomyopathy skos:closeMatch NANDO:2200233 Restrictive cardiomyopathy semapv:MappingInversion +MONDO:0005204 primary antiphospholipid syndrome skos:closeMatch NANDO:1200267 Primary antiphospholipid antibody syndrome semapv:MappingInversion +MONDO:0005207 choriocarcinoma skos:closeMatch NANDO:2200070 Choriocarcinoma semapv:MappingInversion +MONDO:0005212 rhabdomyosarcoma skos:closeMatch NANDO:2200056 Rhabdomyosarcoma semapv:MappingInversion +MONDO:0005223 acute myeloid leukemia with minimal differentiation skos:closeMatch NANDO:2200004 Acute myeloid leukemia with minimal differentiation semapv:MappingInversion +MONDO:0005224 acute myeloblastic leukemia without maturation skos:closeMatch NANDO:2200005 Acute myeloid leukemia without maturation semapv:MappingInversion +MONDO:0005265 inflammatory bowel disease skos:closeMatch NANDO:2100259 Inflammatory bowel disease semapv:MappingInversion +MONDO:0005300 chronic kidney disease skos:closeMatch NANDO:2100008 Chronic kidney disease semapv:MappingInversion +MONDO:0005300 chronic kidney disease skos:closeMatch NANDO:2100023 Chronic renal failure semapv:MappingInversion +MONDO:0005301 multiple sclerosis skos:closeMatch NANDO:1200023 Multiple sclerosis semapv:MappingInversion +MONDO:0005301 multiple sclerosis skos:closeMatch NANDO:2100250 Multiple sclerosis semapv:MappingInversion +MONDO:0005301 multiple sclerosis skos:closeMatch NANDO:2200904 Multiple sclerosis semapv:MappingInversion +MONDO:0005306 ankylosing spondylitis skos:closeMatch NANDO:1200870 Ankylosing spondylitis semapv:MappingInversion +MONDO:0005310 atrial flutter skos:closeMatch NANDO:2100050 Atrial flutter semapv:MappingInversion +MONDO:0005310 atrial flutter skos:closeMatch NANDO:2200218 Multiple atrial tachycardia semapv:MappingInversion +MONDO:0005310 atrial flutter skos:closeMatch NANDO:2200225 Atrial flutter semapv:MappingInversion +MONDO:0005314 relapsing-remitting multiple sclerosis skos:closeMatch NANDO:1200024 Relapsing-remitting multiple sclerosis semapv:MappingInversion +MONDO:0005314 relapsing-remitting multiple sclerosis skos:closeMatch NANDO:2201319 Relapsing-remitting multiple sclerosis semapv:MappingInversion +MONDO:0005342 IgA glomerulonephritis skos:closeMatch NANDO:1200366 IgA nephropathy semapv:MappingInversion +MONDO:0005342 IgA glomerulonephritis skos:closeMatch NANDO:2200121 IgA nephropathy semapv:MappingInversion +MONDO:0005361 eosinophilic esophagitis skos:closeMatch NANDO:1200456 Eosinophilic esophagitis semapv:MappingInversion +MONDO:0005363 inherited focal segmental glomerulosclerosis skos:closeMatch NANDO:1200722 Focal segmental glomerulosclerosis semapv:MappingInversion +MONDO:0005363 inherited focal segmental glomerulosclerosis skos:closeMatch NANDO:2200113 Focal segmental glomerulosclerosis semapv:MappingInversion +MONDO:0005364 Graves disease skos:closeMatch NANDO:2200328 Basedow disease semapv:MappingInversion +MONDO:0005369 carcinoid tumor skos:closeMatch NANDO:2200396 Carcinoid syndrome semapv:MappingInversion +MONDO:0005376 membranous glomerulonephritis skos:closeMatch NANDO:1200721 Membranous nephropathy semapv:MappingInversion +MONDO:0005376 membranous glomerulonephritis skos:closeMatch NANDO:2200114 Membranous nephropathy semapv:MappingInversion +MONDO:0005377 nephrotic syndrome skos:closeMatch NANDO:2100009 Nephrotic syndrome semapv:MappingInversion +MONDO:0005381 bone disorder skos:closeMatch NANDO:2100291 Bone disease semapv:MappingInversion +MONDO:0005381 bone disorder skos:closeMatch NANDO:2100293 Bone disease semapv:MappingInversion +MONDO:0005385 vascular disorder skos:closeMatch NANDO:2100294 Vascular disease semapv:MappingInversion +MONDO:0005387 primary ovarian failure skos:closeMatch NANDO:2100139 Hypergonadotropic hypogonadism semapv:MappingInversion +MONDO:0005388 primary biliary cholangitis skos:closeMatch NANDO:1200439 Primary biliary cholangitis semapv:MappingInversion +MONDO:0005420 hypothyroidism skos:closeMatch NANDO:2100120 Hypothyroidism semapv:MappingInversion +MONDO:0005429 prion disease skos:closeMatch NANDO:1200186 Prion disease semapv:MappingInversion +MONDO:0005437 testicular dysgenesis syndrome skos:closeMatch NANDO:2200383 Testicular dysgenesis semapv:MappingInversion +MONDO:0005439 familial hypercholesterolemia skos:closeMatch NANDO:2200602 Familial hypercholesterolemia semapv:MappingInversion +MONDO:0005440 embryonal carcinoma skos:closeMatch NANDO:2200067 Embryonal carcinoma semapv:MappingInversion +MONDO:0005477 ventricular tachycardia skos:closeMatch NANDO:2100049 Ventricular tachycardia semapv:MappingInversion +MONDO:0005479 atrial tachycardia skos:closeMatch NANDO:2200218 Multiple atrial tachycardia semapv:MappingInversion +MONDO:0005508 hereditary multiple osteochondromas skos:closeMatch NANDO:2200049 Osteochondromatosis semapv:MappingInversion +MONDO:0005508 hereditary multiple osteochondromas skos:closeMatch NANDO:2201014 Multiple cartilaginous exostosis semapv:MappingInversion +MONDO:0005508 hereditary multiple osteochondromas skos:closeMatch NANDO:2201015 Enchondromatosis semapv:MappingInversion +MONDO:0005532 Crohn's colitis skos:closeMatch NANDO:1200446 Colonic Crohn's disease semapv:MappingInversion +MONDO:0005533 distal colitis skos:closeMatch NANDO:1200451 Left-sided colitis semapv:MappingInversion +MONDO:0005534 ileocolitis skos:closeMatch NANDO:1200447 Crohn ileocolitis semapv:MappingInversion +MONDO:0005536 pancolitis skos:closeMatch NANDO:1200450 Pan-ulcerative colitis semapv:MappingInversion +MONDO:0005539 small bowel Crohn disease skos:closeMatch NANDO:1200445 small bowel Crohn disease semapv:MappingInversion +MONDO:0005549 renal cell adenocarcinoma skos:closeMatch NANDO:2200045 Renal cell carcinoma semapv:MappingInversion +MONDO:0005554 rheumatic disorder skos:closeMatch NANDO:2100151 Collagen disease semapv:MappingInversion +MONDO:0005554 rheumatic disorder skos:closeMatch NANDO:2100152 Collagen disease semapv:MappingInversion +MONDO:0005556 lupus nephritis skos:closeMatch NANDO:2200128 Lupus nephritis semapv:MappingInversion +MONDO:0005570 hematologic disorder skos:closeMatch NANDO:1100006 Blood disease semapv:MappingInversion +MONDO:0005570 hematologic disorder skos:closeMatch NANDO:2100175 Blood disease semapv:MappingInversion +MONDO:0005624 atrophic thyroiditis skos:closeMatch NANDO:2200336 Atrophic thyroiditis semapv:MappingInversion +MONDO:0005648 aortic valve insufficiency skos:closeMatch NANDO:2200307 Aortic valve regurgitation semapv:MappingInversion +MONDO:0005711 congenital diaphragmatic hernia skos:closeMatch NANDO:1200911 Congenital diaphragmatic hernia semapv:MappingInversion +MONDO:0005711 congenital diaphragmatic hernia skos:closeMatch NANDO:2100040 Congenital diaphragmatic hernia semapv:MappingInversion +MONDO:0005711 congenital diaphragmatic hernia skos:closeMatch NANDO:2200210 Congenital diaphragmatic hernia semapv:MappingInversion +MONDO:0005713 obsolete MONDO:0005713 skos:closeMatch NANDO:2200890 Congenital rubella syndrome semapv:MappingInversion +MONDO:0005715 congenital toxoplasmosis skos:closeMatch NANDO:2200892 Congenital toxoplasmosis semapv:MappingInversion +MONDO:0005744 yolk sac tumor skos:closeMatch NANDO:2200069 Yolk sac tumour semapv:MappingInversion +MONDO:0005764 follicular dendritic cell sarcoma skos:closeMatch NANDO:2200034 Follicular dendritic cell sarcoma semapv:MappingInversion +MONDO:0005775 G6PD deficiency skos:closeMatch NANDO:2200627 Glucose-6-phosphate dehydrogenase deficiency semapv:MappingInversion +MONDO:0005803 hyperinsulinemic hypoglycemia skos:closeMatch NANDO:2100143 Hyperinsulinemic hypoglycemia semapv:MappingInversion +MONDO:0005803 hyperinsulinemic hypoglycemia skos:closeMatch NANDO:2200399 Congenital hyperinsulinemia semapv:MappingInversion +MONDO:0005804 hyperprolactinemia skos:closeMatch NANDO:2100115 Hyperprolactinemia semapv:MappingInversion +MONDO:0005804 hyperprolactinemia skos:closeMatch NANDO:2200322 Hyperprolactinemia semapv:MappingInversion +MONDO:0005810 infectious mononucleosis skos:closeMatch NANDO:1200668 Pfeiffer syndrome semapv:MappingInversion +MONDO:0005810 infectious mononucleosis skos:closeMatch NANDO:2200976 Pfeiffer syndrome semapv:MappingInversion +MONDO:0005813 interdigitating dendritic cell sarcoma skos:closeMatch NANDO:2200035 Interdigitating dendritic cell sarcoma semapv:MappingInversion +MONDO:0005827 lipoatrophic diabetes skos:closeMatch NANDO:2200465 Lipoatrophic diabetes semapv:MappingInversion +MONDO:0005852 mitral valve stenosis skos:closeMatch NANDO:1200963 Congenital mitral stenosis semapv:MappingInversion +MONDO:0005852 mitral valve stenosis skos:closeMatch NANDO:2200302 Mitral valve stenosis semapv:MappingInversion +MONDO:0005854 mixed connective tissue disease skos:closeMatch NANDO:1200278 Mixed connective tissue disease semapv:MappingInversion +MONDO:0005854 mixed connective tissue disease skos:closeMatch NANDO:2200430 Mixed connective tissue disease semapv:MappingInversion +MONDO:0005965 spinal stenosis skos:closeMatch NANDO:1200372 Coexisting cervical and lumbar spinal stenosis semapv:MappingInversion +MONDO:0005997 tricuspid valve stenosis skos:closeMatch NANDO:2200300 Tricuspid valve stenosis semapv:MappingInversion +MONDO:0006007 vesicoureteral reflux skos:closeMatch NANDO:2200179 Vesicoureteral reflux semapv:MappingInversion +MONDO:0006055 sex cord-stromal tumor skos:closeMatch NANDO:2200072 Sex-cord stromal tumour semapv:MappingInversion +MONDO:0006238 growth hormone-producing pituitary gland adenoma skos:closeMatch NANDO:1200385 Growth hormone secreting pituitary adenoma semapv:MappingInversion +MONDO:0006238 growth hormone-producing pituitary gland adenoma skos:closeMatch NANDO:1200386 Diencephalo-hypophysial dysfunction-syndrome of abnormal secretion of growth hormone semapv:MappingInversion +MONDO:0006287 malignancy in giant cell tumor of bone skos:closeMatch NANDO:2200052 Malignancy in giant cell tumour of bone semapv:MappingInversion +MONDO:0006373 pituitary gland adenoma skos:closeMatch NANDO:2200095 Pituitary adenoma semapv:MappingInversion +MONDO:0006412 sinus histiocytosis with massive lymphadenopathy skos:closeMatch NANDO:2200039 Rosai-Dorfman disease semapv:MappingInversion +MONDO:0006444 teratoma with malignant transformation skos:closeMatch NANDO:2200107 Teratoma with malignant transformation semapv:MappingInversion +MONDO:0006451 thymic carcinoma skos:closeMatch NANDO:2200079 Malignant thymoma semapv:MappingInversion +MONDO:0006536 congenital generalized lipodystrophy skos:closeMatch NANDO:1200859 Generalized congenital lipodystrophy semapv:MappingInversion +MONDO:0006541 epidermolysis bullosa skos:closeMatch NANDO:1200234 Epidermolysis bullosa semapv:MappingInversion +MONDO:0006541 epidermolysis bullosa skos:closeMatch NANDO:2100284 Epidermolysis bullosa semapv:MappingInversion +MONDO:0006541 epidermolysis bullosa skos:closeMatch NANDO:2201000 Epidermolysis bullosa semapv:MappingInversion +MONDO:0006573 lipodystrophy skos:closeMatch NANDO:1200858 Lipodystrophy semapv:MappingInversion +MONDO:0006573 lipodystrophy skos:closeMatch NANDO:2100147 Lipodystrophy semapv:MappingInversion +MONDO:0006573 lipodystrophy skos:closeMatch NANDO:2200404 Lipodystrophy semapv:MappingInversion +MONDO:0006594 pemphigus skos:closeMatch NANDO:1200228 Pemphigus semapv:MappingInversion +MONDO:0006639 adrenal cortex carcinoma skos:closeMatch NANDO:2200073 Adrenocortical carcinoma semapv:MappingInversion +MONDO:0006656 aortitis skos:closeMatch NANDO:1200251 Takayasu arteritis semapv:MappingInversion +MONDO:0006656 aortitis skos:closeMatch NANDO:2200423 Takayasu arteritis semapv:MappingInversion +MONDO:0006657 obsolete apparent mineralocorticoid excess syndrome skos:closeMatch NANDO:2100130 Apparent mineralocorticoid excess syndrome semapv:MappingInversion +MONDO:0006657 obsolete apparent mineralocorticoid excess syndrome skos:closeMatch NANDO:2200362 Apparent mineralocorticoid excess syndrome semapv:MappingInversion +MONDO:0006664 atrial septal defect skos:closeMatch NANDO:2100085 Atrial septal defect semapv:MappingInversion +MONDO:0006689 obsolete carcinoid syndrome skos:closeMatch NANDO:2200396 Carcinoid syndrome semapv:MappingInversion +MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:closeMatch NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion +MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:closeMatch NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion +MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:closeMatch NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion +MONDO:0006711 constrictive pericarditis skos:closeMatch NANDO:2100064 Constrictive pericarditis semapv:MappingInversion +MONDO:0006711 constrictive pericarditis skos:closeMatch NANDO:2200239 Constrictive pericarditis semapv:MappingInversion +MONDO:0006715 coronary stenosis skos:closeMatch NANDO:2200246 Stenosis or atresia of coronary artery semapv:MappingInversion +MONDO:0006779 heart aneurysm skos:closeMatch NANDO:2200234 Aneurysm of ventricle semapv:MappingInversion +MONDO:0006785 obsolete Henoch-Schoenlein purpura skos:closeMatch NANDO:1200741 Henoch-Schonlein purpura nephritis semapv:MappingInversion +MONDO:0006795 hypersplenism skos:closeMatch NANDO:2200637 Hypersplenism semapv:MappingInversion +MONDO:0006802 inappropriate ADH syndrome skos:closeMatch NANDO:1200376 Syndrome of inappropriate secretion of antidiuretic hormone semapv:MappingInversion +MONDO:0006802 inappropriate ADH syndrome skos:closeMatch NANDO:2100116 Syndrome of inappropriate secretion of antidiuretic hormone semapv:MappingInversion +MONDO:0006802 inappropriate ADH syndrome skos:closeMatch NANDO:2200323 Syndrome of inappropriate secretion of antidiuretic hormone semapv:MappingInversion +MONDO:0006823 Klinefelter syndrome skos:closeMatch NANDO:2200386 Klinefelter syndrome semapv:MappingInversion +MONDO:0006835 lipoid nephrosis skos:closeMatch NANDO:1200720 Minimal change nephrotic syndrome semapv:MappingInversion +MONDO:0006835 lipoid nephrosis skos:closeMatch NANDO:2200112 Minimal change nephrotic syndrome semapv:MappingInversion +MONDO:0006935 pulmonary subvalvular stenosis skos:closeMatch NANDO:2100092 Subvalvular pulmonary stenosis semapv:MappingInversion +MONDO:0006935 pulmonary subvalvular stenosis skos:closeMatch NANDO:2200276 Subvalvular pulmonary stenosis semapv:MappingInversion +MONDO:0006936 pulmonary valve stenosis skos:closeMatch NANDO:2200304 Pulmonary valve stenosis semapv:MappingInversion +MONDO:0006947 renovascular hypertension skos:closeMatch NANDO:2100016 Renovascular hypertension semapv:MappingInversion +MONDO:0006947 renovascular hypertension skos:closeMatch NANDO:2200141 Renovascular hypertension semapv:MappingInversion +MONDO:0006987 subvalvular aortic stenosis skos:closeMatch NANDO:2100093 Subvalvular aortic stenosis semapv:MappingInversion +MONDO:0006987 subvalvular aortic stenosis skos:closeMatch NANDO:2200277 Subvalvular aortic stenosis semapv:MappingInversion +MONDO:0007012 variant Creutzfeldt-Jakob disease skos:closeMatch NANDO:1200194 Variant Creutzfeldt-Jakob disease semapv:MappingInversion +MONDO:0007029 branchio-oto-renal syndrome skos:closeMatch NANDO:1200675 Branchio-oto-renal syndrome semapv:MappingInversion +MONDO:0007032 prune belly syndrome skos:closeMatch NANDO:2200185 Prune belly syndrome semapv:MappingInversion +MONDO:0007037 Achondroplasia skos:closeMatch NANDO:1200877 Achondroplasia semapv:MappingInversion +MONDO:0007037 Achondroplasia skos:closeMatch NANDO:2201009 Achondroplasia semapv:MappingInversion +MONDO:0007039 neurofibromatosis type 2 skos:closeMatch NANDO:1200227 Neurofibromatosis type 2 semapv:MappingInversion +MONDO:0007041 Apert syndrome skos:closeMatch NANDO:1200667 Apert syndrome semapv:MappingInversion +MONDO:0007041 Apert syndrome skos:closeMatch NANDO:2200844 Apert syndrome semapv:MappingInversion +MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch NANDO:2200848 Saethre-Chotzen syndrome semapv:MappingInversion +MONDO:0007043 Pfeiffer syndrome skos:closeMatch NANDO:1200668 Pfeiffer syndrome semapv:MappingInversion +MONDO:0007043 Pfeiffer syndrome skos:closeMatch NANDO:2200976 Pfeiffer syndrome semapv:MappingInversion +MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch NANDO:1200323 Adenosine deaminase deficiency semapv:MappingInversion +MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch NANDO:2200696 Adenosine deaminase deficiency semapv:MappingInversion +MONDO:0007078 Pseudohypoparathyroidism type 1A skos:closeMatch NANDO:1201075 Pseudohypoparathyroidism type 1A semapv:MappingInversion +MONDO:0007097 Finnish type amyloidosis skos:closeMatch NANDO:1201063 Familial amyloid polyneuropathy type 4 semapv:MappingInversion +MONDO:0007099 familial visceral amyloidosis skos:closeMatch NANDO:2200138 Amyloid nephropathy semapv:MappingInversion +MONDO:0007100 familial amyloid neuropathy skos:closeMatch NANDO:1200214 Familial amyloid polyneuropathy semapv:MappingInversion +MONDO:0007100 familial amyloid neuropathy skos:closeMatch NANDO:1201060 Familial amyloid polyneuropathy type 1 semapv:MappingInversion +MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:closeMatch NANDO:1200888 Congenital dyserythropoietic anemia type III semapv:MappingInversion +MONDO:0007113 Angelman syndrome skos:closeMatch NANDO:1200686 Angelman syndrome semapv:MappingInversion +MONDO:0007113 Angelman syndrome skos:closeMatch NANDO:2200960 Angelman syndrome semapv:MappingInversion +MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch NANDO:2200271 Total anomalous pulmonary venous connection semapv:MappingInversion +MONDO:0007140 obsolete antiphospholipid syndrome skos:closeMatch NANDO:1200271 Antiphospholipid antibody-related disease semapv:MappingInversion +MONDO:0007140 obsolete antiphospholipid syndrome skos:closeMatch NANDO:2200421 Anti-phospholipid antibody syndrome semapv:MappingInversion +MONDO:0007154 arteriovenous malformations of the brain skos:closeMatch NANDO:2100229 Cerebral arteriovenous malformation semapv:MappingInversion +MONDO:0007154 arteriovenous malformations of the brain skos:closeMatch NANDO:2200851 Cerebral arteriovenous malformation semapv:MappingInversion +MONDO:0007160 Stickler syndrome type 1 skos:closeMatch NANDO:2201354 Stickler syndrome type 1 semapv:MappingInversion +MONDO:0007182 Machado-Joseph disease skos:closeMatch NANDO:1200041 Spinocerebellar ataxia type 3 semapv:MappingInversion +MONDO:0007187 nevoid basal cell carcinoma syndrome skos:closeMatch NANDO:2200828 Gorlin syndrome semapv:MappingInversion +MONDO:0007191 Behcet disease skos:closeMatch NANDO:1200284 Behcet's disease semapv:MappingInversion +MONDO:0007191 Behcet disease skos:closeMatch NANDO:2200422 Behcet's disease semapv:MappingInversion +MONDO:0007203 blue rubber bleb nevus skos:closeMatch NANDO:2201027 Blue rubber bleb nevus syndrome semapv:MappingInversion +MONDO:0007256 hepatocellular carcinoma skos:closeMatch NANDO:2200047 Hepatocellular carcinoma semapv:MappingInversion +MONDO:0007294 central core myopathy skos:closeMatch NANDO:1200479 Central core disease semapv:MappingInversion +MONDO:0007294 central core myopathy skos:closeMatch NANDO:2200870 Central core disease semapv:MappingInversion +MONDO:0007296 spinocerebellar ataxia type 31 skos:closeMatch NANDO:1200044 Spinocerebellar ataxia type 31 semapv:MappingInversion +MONDO:0007315 cherubism skos:closeMatch NANDO:2200444 Cherubism semapv:MappingInversion +MONDO:0007318 Alagille syndrome skos:closeMatch NANDO:1200918 Alagille syndrome semapv:MappingInversion +MONDO:0007318 Alagille syndrome skos:closeMatch NANDO:1200919 Typical Alagille syndrome semapv:MappingInversion +MONDO:0007318 Alagille syndrome skos:closeMatch NANDO:2200931 Alagille syndrome semapv:MappingInversion +MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type skos:closeMatch NANDO:2201359 Chondrodysplasia punctata, tibial-metacarpal type semapv:MappingInversion +MONDO:0007326 obsolete paroxysmal nonkinesigenic dyskinesia 1 skos:closeMatch NANDO:1200519 Dystonia 8 semapv:MappingInversion +MONDO:0007345 aorta coarctation skos:closeMatch NANDO:2200283 Coarctation of the aorta semapv:MappingInversion +MONDO:0007345 aorta coarctation skos:closeMatch NANDO:2200284 Coarctation complex semapv:MappingInversion +MONDO:0007361 C1 inhibitor deficiency skos:closeMatch NANDO:1200365 Hereditary angioedema semapv:MappingInversion +MONDO:0007361 C1 inhibitor deficiency skos:closeMatch NANDO:2200795 Hereditary angioedema semapv:MappingInversion +MONDO:0007363 congenital contractural arachnodactyly skos:closeMatch NANDO:2201026 Beals syndrome semapv:MappingInversion +MONDO:0007369 hereditary coproporphyria skos:closeMatch NANDO:1200813 Hereditary coproporphyria semapv:MappingInversion +MONDO:0007369 hereditary coproporphyria skos:closeMatch NANDO:2201264 Hereditary coproporphyria semapv:MappingInversion +MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch NANDO:1200189 Familial Creutzfeldt-Jakob disease semapv:MappingInversion +MONDO:0007404 Cri-du-chat syndrome skos:closeMatch NANDO:1200684 5p deletion syndrome semapv:MappingInversion +MONDO:0007404 Cri-du-chat syndrome skos:closeMatch NANDO:2200961 5p- syndrome semapv:MappingInversion +MONDO:0007405 Crouzon syndrome skos:closeMatch NANDO:1200666 Crouzon's syndrome semapv:MappingInversion +MONDO:0007405 Crouzon syndrome skos:closeMatch NANDO:2200845 Crouzon disease semapv:MappingInversion +MONDO:0007414 Gorham-Stout disease skos:closeMatch NANDO:1200878 Lymphangiomatosis / Gorham-Stout disease semapv:MappingInversion +MONDO:0007414 Gorham-Stout disease skos:closeMatch NANDO:1200880 obsolete Gorham disease semapv:MappingInversion +MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy skos:closeMatch NANDO:1200545 Cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy semapv:MappingInversion +MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch NANDO:1200043 Dentatorubropallidoluysian atrophy semapv:MappingInversion +MONDO:0007450 neurohypophyseal diabetes insipidus skos:closeMatch NANDO:2201050 Familial central diabetes insipidus semapv:MappingInversion +MONDO:0007452 maturity-onset diabetes of the young type 1 skos:closeMatch NANDO:2200461 Diabetes mellitus type 2 semapv:MappingInversion +MONDO:0007452 maturity-onset diabetes of the young type 1 skos:closeMatch NANDO:2201069 Maturity-onset diabetes of the young type 1 semapv:MappingInversion +MONDO:0007453 maturity-onset diabetes of the young type 2 skos:closeMatch NANDO:2201070 Maturity-onset diabetes of the young type 2 semapv:MappingInversion +MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch NANDO:1200512 Dystonia 1 semapv:MappingInversion +MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch NANDO:2100240 Dystonia musculorum deformans semapv:MappingInversion +MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch NANDO:2200884 Dystonia musculorum deformans semapv:MappingInversion +MONDO:0007493 torsion dystonia 4 skos:closeMatch NANDO:1200515 Dystonia 4 semapv:MappingInversion +MONDO:0007494 obsolete episodic kinesigenic dyskinesia 1 skos:closeMatch NANDO:1200521 Dystonia 10 semapv:MappingInversion +MONDO:0007495 dystonia 5 skos:closeMatch NANDO:1200516 Dystonia 5 semapv:MappingInversion +MONDO:0007496 dystonia 12 skos:closeMatch NANDO:1200523 Dystonia 12 semapv:MappingInversion +MONDO:0007496 dystonia 12 skos:closeMatch NANDO:1200524 Rapid-onset dystonia-parkinsonism semapv:MappingInversion +MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch NANDO:1200646 Ehlers-Danlos syndrome, classical type semapv:MappingInversion +MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch NANDO:2201256 Ehlers-Danlos syndrome, classical type semapv:MappingInversion +MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch NANDO:1200647 Ehlers-Danlos syndrome, hypermobility type semapv:MappingInversion +MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch NANDO:2201257 Ehlers-Danlos syndrome, hypermobility type semapv:MappingInversion +MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch NANDO:1200650 Ehlers-Danlos syndrome, arthrochalasis type semapv:MappingInversion +MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch NANDO:2201260 Ehlers-Danlos syndrome, arthrochalasis type semapv:MappingInversion +MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch NANDO:2200959 Beckwith-Wiedemann syndrome semapv:MappingInversion +MONDO:0007540 multiple endocrine neoplasia type 1 skos:closeMatch NANDO:2200405 Multiple endocrine neoplasia type 1 semapv:MappingInversion +MONDO:0007542 Camurati-Engelmann disease skos:closeMatch NANDO:2200970 Camurati-Engelmann disease semapv:MappingInversion +MONDO:0007606 fibrodysplasia ossificans progressiva skos:closeMatch NANDO:1200871 Fibrodysplasia ossificans progressiva semapv:MappingInversion +MONDO:0007606 fibrodysplasia ossificans progressiva skos:closeMatch NANDO:2201020 Fibrodysplasia ossificans progressiva semapv:MappingInversion +MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch NANDO:1200190 Gerstmann-Straussler-Scheinker syndrome semapv:MappingInversion +MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch NANDO:2201073 Maturity-onset diabetes of the young type 5 semapv:MappingInversion +MONDO:0007671 fibronectin glomerulopathy skos:closeMatch NANDO:2200133 Glomerulopathy with fibronectin deposits, fibronectin nephropathy semapv:MappingInversion +MONDO:0007691 Guillain-Barre syndrome, familial skos:closeMatch NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion +MONDO:0007691 Guillain-Barre syndrome, familial skos:closeMatch NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion +MONDO:0007691 Guillain-Barre syndrome, familial skos:closeMatch NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy semapv:MappingInversion +MONDO:0007699 Hashimoto thyroiditis skos:closeMatch NANDO:2200335 Hashimoto disease semapv:MappingInversion +MONDO:0007708 Kasabach-Merritt syndrome skos:closeMatch NANDO:2100297 Kasabach-Merritt syndrome semapv:MappingInversion +MONDO:0007708 Kasabach-Merritt syndrome skos:closeMatch NANDO:2201035 Kasabach-Merritt syndrome semapv:MappingInversion +MONDO:0007727 autosomal dominant familial periodic fever skos:closeMatch NANDO:1200472 TNF receptor-associated periodic fever syndrome semapv:MappingInversion +MONDO:0007727 autosomal dominant familial periodic fever skos:closeMatch NANDO:2200433 TNF receptor-associated periodic fever syndrome semapv:MappingInversion +MONDO:0007739 Huntington disease skos:closeMatch NANDO:1200012 Huntington's disease semapv:MappingInversion +MONDO:0007741 congenital hydronephrosis skos:closeMatch NANDO:2200176 Ureteropelvic junction obstruction semapv:MappingInversion +MONDO:0007750 hypercholesterolemia, familial, 1 skos:closeMatch NANDO:2200602 Familial hypercholesterolemia semapv:MappingInversion +MONDO:0007793 hypochondroplasia skos:closeMatch NANDO:2201010 Hypochondroplasia semapv:MappingInversion +MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia skos:closeMatch NANDO:1200382 Idiopathic hypogonadotropic hypogonadism semapv:MappingInversion +MONDO:0007803 multiple system atrophy skos:closeMatch NANDO:1200034 Multiple system atrophy semapv:MappingInversion +MONDO:0007813 superficial epidermolytic ichthyosis skos:closeMatch NANDO:1200613 Superficial epidermolytic ichthyosis semapv:MappingInversion +MONDO:0007813 superficial epidermolytic ichthyosis skos:closeMatch NANDO:2200990 Superficial epidermolytic ichthyosis semapv:MappingInversion +MONDO:0007827 inclusion body myositis skos:closeMatch NANDO:1200032 Sporadic inclusion body myositis semapv:MappingInversion +MONDO:0007827 inclusion body myositis skos:closeMatch NANDO:1200218 Distal myopathy with rimmed vacuoles semapv:MappingInversion +MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch NANDO:1200884 Klippel-Trenaunay-Weber syndrome semapv:MappingInversion +MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch NANDO:2201030 Klippel-Trenaunay-Weber syndrome semapv:MappingInversion +MONDO:0007875 Larsen syndrome skos:closeMatch NANDO:2201019 Larsen syndrome semapv:MappingInversion +MONDO:0007879 larynx atresia skos:closeMatch NANDO:2200190 Laryngeal stenosis semapv:MappingInversion +MONDO:0007895 platyspondylic dysplasia, Torrance type skos:closeMatch NANDO:2201347 Platyspondylic dysplasia, Torrance type semapv:MappingInversion +MONDO:0007896 acute monocytic leukemia skos:closeMatch NANDO:2200008 Acute monocytic leukemia semapv:MappingInversion +MONDO:0007896 acute monocytic leukemia skos:closeMatch NANDO:2200009 Acute monocytic leukemia semapv:MappingInversion +MONDO:0007915 systemic lupus erythematosus skos:closeMatch NANDO:1200272 Systemic lupus erythematosus semapv:MappingInversion +MONDO:0007915 systemic lupus erythematosus skos:closeMatch NANDO:2200416 Systemic lupus erythematosus semapv:MappingInversion +MONDO:0007947 Marfan syndrome skos:closeMatch NANDO:1200644 Marfan syndrome semapv:MappingInversion +MONDO:0007947 Marfan syndrome skos:closeMatch NANDO:2200968 Marfan syndrome semapv:MappingInversion +MONDO:0007954 obsolete May-Hegglin anomaly skos:closeMatch NANDO:1200893 Epstein syndrome semapv:MappingInversion +MONDO:0007954 obsolete May-Hegglin anomaly skos:closeMatch NANDO:2100193 May-Hegglin anomaly semapv:MappingInversion +MONDO:0007954 obsolete May-Hegglin anomaly skos:closeMatch NANDO:2200127 Epstein syndrome semapv:MappingInversion +MONDO:0007954 obsolete May-Hegglin anomaly skos:closeMatch NANDO:2200654 May-Hegglin anomaly semapv:MappingInversion +MONDO:0007959 medulloblastoma skos:closeMatch NANDO:2200090 Medulloblastoma semapv:MappingInversion +MONDO:0007960 obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome skos:closeMatch NANDO:1200459 Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:MappingInversion +MONDO:0007960 obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome skos:closeMatch NANDO:2200947 Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:MappingInversion +MONDO:0007970 melorheostosis skos:closeMatch NANDO:2201364 Melorheostosis semapv:MappingInversion +MONDO:0007987 Kniest dysplasia skos:closeMatch NANDO:2201350 Kniest dysplasia semapv:MappingInversion +MONDO:0008006 Mobius syndrome skos:closeMatch NANDO:1200559 Moebius syndrome semapv:MappingInversion +MONDO:0008006 Mobius syndrome skos:closeMatch NANDO:2200980 Moebius syndrome semapv:MappingInversion +MONDO:0008029 Bethlem myopathy skos:closeMatch NANDO:1200220 Bethlem Myopathy semapv:MappingInversion +MONDO:0008039 tropical spastic paraparesis skos:closeMatch NANDO:1200206 HTLV-1-associated myelopathy semapv:MappingInversion +MONDO:0008054 juvenile dermatomyositis skos:closeMatch NANDO:2200418 Juvenile dermatomyositis semapv:MappingInversion +MONDO:0008061 nail-patella syndrome skos:closeMatch NANDO:1200967 Nail-patella syndrome semapv:MappingInversion +MONDO:0008061 nail-patella syndrome skos:closeMatch NANDO:2200132 Nail-patella syndrome semapv:MappingInversion +MONDO:0008082 multiple endocrine neoplasia type 2B skos:closeMatch NANDO:2201053 Multiple endocrine neoplasia type 2B semapv:MappingInversion +MONDO:0008090 cyclic hematopoiesis skos:closeMatch NANDO:1200354 Cyclic neutropenia semapv:MappingInversion +MONDO:0008090 cyclic hematopoiesis skos:closeMatch NANDO:2200746 Cyclic neutropenia semapv:MappingInversion +MONDO:0008116 oculopharyngeal muscular dystrophy skos:closeMatch NANDO:1200493 Oculopharyngeal muscular dystrophy semapv:MappingInversion +MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch NANDO:1200045 Spinocerebellar ataxia type 1 semapv:MappingInversion +MONDO:0008120 obsolete spinocerebellar ataxia type 7 skos:closeMatch NANDO:1200047 Spinocerebellar ataxia type 7 semapv:MappingInversion +MONDO:0008145 Ollier disease skos:closeMatch NANDO:2200049 Osteochondromatosis semapv:MappingInversion +MONDO:0008145 Ollier disease skos:closeMatch NANDO:2201015 Enchondromatosis semapv:MappingInversion +MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch NANDO:1200921 Hereditary pancreatitis semapv:MappingInversion +MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch NANDO:2200942 Hereditary pancreatitis semapv:MappingInversion +MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:closeMatch NANDO:1200501 Paramyotonia congenita semapv:MappingInversion +MONDO:0008201 Perry syndrome skos:closeMatch NANDO:1200547 Perry syndrome semapv:MappingInversion +MONDO:0008218 Hailey-Hailey disease skos:closeMatch NANDO:1200631 Benign familial pemphigus semapv:MappingInversion +MONDO:0008219 pemphigus vulgaris skos:closeMatch NANDO:1200229 Pemphigus vulgaris semapv:MappingInversion +MONDO:0008221 prolidase deficiency skos:closeMatch NANDO:2200472 Prolidase deficiency semapv:MappingInversion +MONDO:0008222 Andersen-Tawil syndrome skos:closeMatch NANDO:1200827 Glycogen storage diseases type IV semapv:MappingInversion +MONDO:0008223 hypokalemic periodic paralysis skos:closeMatch NANDO:1200503 Hereditary hypokalemic periodic paralysis semapv:MappingInversion +MONDO:0008224 hyperkalemic periodic paralysis skos:closeMatch NANDO:1200504 Hereditary hyperkalemic periodic paralysis semapv:MappingInversion +MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch NANDO:2200406 Multiple endocrine neoplasia type 2 semapv:MappingInversion +MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch NANDO:2201052 Multiple endocrine neoplasia type 2A semapv:MappingInversion +MONDO:0008260 Kindler syndrome skos:closeMatch NANDO:1200239 Kindler syndrome semapv:MappingInversion +MONDO:0008280 Peutz-Jeghers syndrome skos:closeMatch NANDO:2200917 Peutz-Jeghers syndrome semapv:MappingInversion +MONDO:0008283 Cronkhite-Canada syndrome skos:closeMatch NANDO:1200901 Cronkhite-Canada syndrome semapv:MappingInversion +MONDO:0008294 acute intermittent porphyria skos:closeMatch NANDO:1200812 Acute intermittent porphyria semapv:MappingInversion +MONDO:0008294 acute intermittent porphyria skos:closeMatch NANDO:2201263 Acute intermittent porphyria semapv:MappingInversion +MONDO:0008297 variegate porphyria skos:closeMatch NANDO:1200814 Variegate porphyria semapv:MappingInversion +MONDO:0008297 variegate porphyria skos:closeMatch NANDO:2201265 Variegate porphyria semapv:MappingInversion +MONDO:0008300 Prader-Willi syndrome skos:closeMatch NANDO:1200678 Prader-Willi syndrome semapv:MappingInversion +MONDO:0008300 Prader-Willi syndrome skos:closeMatch NANDO:2200411 Prader-Willi syndrome semapv:MappingInversion +MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:closeMatch NANDO:1201007 Hutchinson-Gilford syndrome semapv:MappingInversion +MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:closeMatch NANDO:2200833 Hutchinson-Gilford syndrome semapv:MappingInversion +MONDO:0008319 protoporphyria, erythropoietic, 1 skos:closeMatch NANDO:1200815 Erythropoietic protoporphyria semapv:MappingInversion +MONDO:0008319 protoporphyria, erythropoietic, 1 skos:closeMatch NANDO:2201266 Erythropoietic protoporphyria semapv:MappingInversion +MONDO:0008322 pseudoachondroplasia skos:closeMatch NANDO:2201018 Pseudoachondroplasia semapv:MappingInversion +MONDO:0008323 Liddle syndrome skos:closeMatch NANDO:2100131 Liddle syndrome semapv:MappingInversion +MONDO:0008323 Liddle syndrome skos:closeMatch NANDO:2200363 Liddle syndrome semapv:MappingInversion +MONDO:0008332 platelet-type von Willebrand disease skos:closeMatch NANDO:2200668 Platelet-type von Willebrand disease semapv:MappingInversion +MONDO:0008343 pulmonary atresia with ventricular septal defect skos:closeMatch NANDO:1200708 Pulmonary atresia with ventricular septal defect semapv:MappingInversion +MONDO:0008343 pulmonary atresia with ventricular septal defect skos:closeMatch NANDO:2200252 Pulmonary atresia with ventricular septal defect semapv:MappingInversion +MONDO:0008345 obsolete idiopathic pulmonary fibrosis skos:closeMatch NANDO:1200417 Idiopathic pulmonary fibrosis semapv:MappingInversion +MONDO:0008346 pulmonary hemosiderosis skos:closeMatch NANDO:1200751 Alveolar hypoventilation syndrome semapv:MappingInversion +MONDO:0008346 pulmonary hemosiderosis skos:closeMatch NANDO:2100037 Idiopathic pulmonary hemosiderosis semapv:MappingInversion +MONDO:0008346 pulmonary hemosiderosis skos:closeMatch NANDO:2200207 Idiopathic pulmonary hemosiderosis semapv:MappingInversion +MONDO:0008367 red cell phospholipid defect with hemolysis skos:closeMatch NANDO:2200634 Xerocytosis with high phosphatidylcholine hemolytic anemia semapv:MappingInversion +MONDO:0008380 retinoblastoma skos:closeMatch NANDO:2200042 Retinoblastoma semapv:MappingInversion +MONDO:0008428 septooptic dysplasia skos:closeMatch NANDO:1200560 Septo-optic dysplasia / De Morsier syndrome semapv:MappingInversion +MONDO:0008428 septooptic dysplasia skos:closeMatch NANDO:1200561 Septo-optic dysplasia semapv:MappingInversion +MONDO:0008428 septooptic dysplasia skos:closeMatch NANDO:2200820 Septo-optic dysplasia semapv:MappingInversion +MONDO:0008434 Smith-Magenis syndrome skos:closeMatch NANDO:1200687 Smith-Magenis syndrome semapv:MappingInversion +MONDO:0008434 Smith-Magenis syndrome skos:closeMatch NANDO:2200954 Smith-Magenis syndrome semapv:MappingInversion +MONDO:0008457 spinocerebellar ataxia type 6 skos:closeMatch NANDO:1200042 Spinocerebellar ataxia type 6 semapv:MappingInversion +MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch NANDO:1200046 Spinocerebellar ataxia type 2 semapv:MappingInversion +MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:closeMatch NANDO:2201348 Spondyloepiphyseal dysplasia congenita semapv:MappingInversion +MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch NANDO:2201349 Spondyloepimetaphyseal dysplasia, Strudwick type semapv:MappingInversion +MONDO:0008487 polycystic ovary syndrome skos:closeMatch NANDO:2100149 Polycystic ovary syndrome semapv:MappingInversion +MONDO:0008487 polycystic ovary syndrome skos:closeMatch NANDO:2200409 Polycystic ovary syndrome semapv:MappingInversion +MONDO:0008501 Sturge-Weber syndrome skos:closeMatch NANDO:1200606 Sturge-Weber syndrome semapv:MappingInversion +MONDO:0008501 Sturge-Weber syndrome skos:closeMatch NANDO:2200830 Sturge-Weber syndrome semapv:MappingInversion +MONDO:0008503 Worster-Drought syndrome skos:closeMatch NANDO:1200558 Congenital suprabulbar paresis semapv:MappingInversion +MONDO:0008504 supravalvular aortic stenosis skos:closeMatch NANDO:2200285 Supravalvular aortic stenosis semapv:MappingInversion +MONDO:0008523 Blau syndrome skos:closeMatch NANDO:1200476 Blau syndrome semapv:MappingInversion +MONDO:0008523 Blau syndrome skos:closeMatch NANDO:2200434 Blau syndrome, early onset sarcoidosis semapv:MappingInversion +MONDO:0008538 temporal arteritis skos:closeMatch NANDO:1200258 Giant cell arteritis semapv:MappingInversion +MONDO:0008538 temporal arteritis skos:closeMatch NANDO:1200259 Cranial giant cell arteritis semapv:MappingInversion +MONDO:0008538 temporal arteritis skos:closeMatch NANDO:1200260 Large-vessel giant cell arteritis semapv:MappingInversion +MONDO:0008542 tetralogy of fallot skos:closeMatch NANDO:1200709 Tetralogy of Fallot semapv:MappingInversion +MONDO:0008542 tetralogy of fallot skos:closeMatch NANDO:2100075 Tetralogy of Fallot semapv:MappingInversion +MONDO:0008542 tetralogy of fallot skos:closeMatch NANDO:2200254 Tetralogy of Fallot semapv:MappingInversion +MONDO:0008546 thanatophoric dysplasia type 1 skos:closeMatch NANDO:1200875 Thanatophoric dysplasia type 1 semapv:MappingInversion +MONDO:0008547 thanatophoric dysplasia type 2 skos:closeMatch NANDO:1200876 Thanatophoric dysplasia type 2 semapv:MappingInversion +MONDO:0008555 thrombocytopenia 2 skos:closeMatch NANDO:2200663 Autosomal dominant thrombocytopenia 2 semapv:MappingInversion +MONDO:0008556 thrombocytopenia, cyclic skos:closeMatch NANDO:2100192 Cyclic thrombocytopenia semapv:MappingInversion +MONDO:0008556 thrombocytopenia, cyclic skos:closeMatch NANDO:2200653 Cyclic thrombocytopenia semapv:MappingInversion +MONDO:0008558 autoimmune thrombocytopenic purpura skos:closeMatch NANDO:1200315 Idiopathic thrombocytopenic purpura semapv:MappingInversion +MONDO:0008558 autoimmune thrombocytopenic purpura skos:closeMatch NANDO:2200645 Immune thrombocytopenic purpura semapv:MappingInversion +MONDO:0008564 DiGeorge syndrome skos:closeMatch NANDO:1200339 Thymus hypoplasia semapv:MappingInversion +MONDO:0008564 DiGeorge syndrome skos:closeMatch NANDO:1200688 22q11.2 deletion syndrome semapv:MappingInversion +MONDO:0008564 DiGeorge syndrome skos:closeMatch NANDO:2200712 Thymus hypoplasia semapv:MappingInversion +MONDO:0008608 Down syndrome skos:closeMatch NANDO:2200965 Down syndrome semapv:MappingInversion +MONDO:0008628 ureterocele skos:closeMatch NANDO:2200183 Ureteroceles semapv:MappingInversion +MONDO:0008633 Muckle-Wells syndrome skos:closeMatch NANDO:1200467 Muckle-Wells syndrome semapv:MappingInversion +MONDO:0008633 Muckle-Wells syndrome skos:closeMatch NANDO:2201067 Muckle-Wells syndrome semapv:MappingInversion +MONDO:0008642 VACTERL/vater association skos:closeMatch NANDO:1200657 VATER syndrome semapv:MappingInversion +MONDO:0008642 VACTERL/vater association skos:closeMatch NANDO:2200983 VATER syndrome semapv:MappingInversion +MONDO:0008644 velocardiofacial syndrome skos:closeMatch NANDO:1200339 Thymus hypoplasia semapv:MappingInversion +MONDO:0008644 velocardiofacial syndrome skos:closeMatch NANDO:1200688 22q11.2 deletion syndrome semapv:MappingInversion +MONDO:0008644 velocardiofacial syndrome skos:closeMatch NANDO:2200712 Thymus hypoplasia semapv:MappingInversion +MONDO:0008667 von Hippel-Lindau disease skos:closeMatch NANDO:2200408 Von Hippel-Lindau disease semapv:MappingInversion +MONDO:0008667 von Hippel-Lindau disease skos:closeMatch NANDO:2200829 von Hippel-Lindau disease semapv:MappingInversion +MONDO:0008674 obsolete WHIM syndrome skos:closeMatch NANDO:2200767 WHIM syndrome semapv:MappingInversion +MONDO:0008678 Williams syndrome skos:closeMatch NANDO:1200664 Williams syndrome semapv:MappingInversion +MONDO:0008678 Williams syndrome skos:closeMatch NANDO:2200286 Williams syndrome semapv:MappingInversion +MONDO:0008682 Denys-Drash syndrome skos:closeMatch NANDO:2200116 Denys-Drash syndrome semapv:MappingInversion +MONDO:0008684 Wolf-Hirschhorn syndrome skos:closeMatch NANDO:1200683 4p deletion syndrome semapv:MappingInversion +MONDO:0008684 Wolf-Hirschhorn syndrome skos:closeMatch NANDO:2200962 4p- Syndrome semapv:MappingInversion +MONDO:0008685 Wolff-Parkinson-White syndrome skos:closeMatch NANDO:2200217 Supraventricular tachycardia due to WPW syndrome semapv:MappingInversion +MONDO:0008692 abetalipoproteinemia skos:closeMatch NANDO:1200857 Abetalipoproteinemia semapv:MappingInversion +MONDO:0008692 abetalipoproteinemia skos:closeMatch NANDO:2200604 Abetalipoproteinemia semapv:MappingInversion +MONDO:0008695 chorea-acanthocytosis skos:closeMatch NANDO:1200014 Chorea-acanthocytosis semapv:MappingInversion +MONDO:0008702 achondrogenesis type II skos:closeMatch NANDO:2201345 Achondrogenesis type 2 semapv:MappingInversion +MONDO:0008703 acromesomelic dysplasia 2A skos:closeMatch NANDO:2201345 Achondrogenesis type 2 semapv:MappingInversion +MONDO:0008703 acromesomelic dysplasia 2A skos:closeMatch NANDO:2201346 Hypochondrogenesis semapv:MappingInversion +MONDO:0008713 acrodermatitis enteropathica skos:closeMatch NANDO:2200584 Acrodermatitis enteropathica semapv:MappingInversion +MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch NANDO:2200513 Medium-chain acyl-CoA dehydrogenase deficiency semapv:MappingInversion +MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch NANDO:2200514 Short-chain acyl-CoA dehydrogenase deficiency semapv:MappingInversion +MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:closeMatch NANDO:2200512 Very-long-chain acyl-CoA dehydrogenase deficiency semapv:MappingInversion +MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:closeMatch NANDO:2201139 Presymptomatic very-long-chain acyl-CoA dehydrogenase deficiency semapv:MappingInversion +MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch NANDO:1200398 3-β-Hydroxysteroid dehydrogenase deficiency semapv:MappingInversion +MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch NANDO:2200371 3 beta-hydroxysteroid dehydrogenase deficiency semapv:MappingInversion +MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch NANDO:1200399 21-Hydroxylase deficiency semapv:MappingInversion +MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch NANDO:2200374 21-Hydroxylase deficiency semapv:MappingInversion +MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch NANDO:1200400 11-β-Hydroxylase deficiency semapv:MappingInversion +MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch NANDO:2200372 11-β-Hydroxylase deficiency semapv:MappingInversion +MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch NANDO:1200401 17-α-Hydroxylase deficiency semapv:MappingInversion +MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch NANDO:2200373 17 alpha-hydroxylase deficiency semapv:MappingInversion +MONDO:0008737 congenital afibrinogenemia skos:closeMatch NANDO:2200672 Afibrinogenemia semapv:MappingInversion +MONDO:0008738 aganglionosis, total intestinal skos:closeMatch NANDO:1200460 Congenital isolated hypoganglionosis semapv:MappingInversion +MONDO:0008738 aganglionosis, total intestinal skos:closeMatch NANDO:2200948 Congenital Isolated Hypoganglionosis semapv:MappingInversion +MONDO:0008749 pseudohypoparathyroidism type 2 skos:closeMatch NANDO:1201078 Pseudohypoparathyroidism type 2 semapv:MappingInversion +MONDO:0008752 Alexander disease skos:closeMatch NANDO:1200554 Alexander disease semapv:MappingInversion +MONDO:0008752 Alexander disease skos:closeMatch NANDO:2200835 Alexander disease semapv:MappingInversion +MONDO:0008753 alkaptonuria skos:closeMatch NANDO:2200504 Alkaptonuria semapv:MappingInversion +MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch NANDO:1200987 Beta-ketothiolase deficiency semapv:MappingInversion +MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch NANDO:2200493 Beta-ketothiolase deficiency semapv:MappingInversion +MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch NANDO:1200153 Late infantile neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch NANDO:2201242 Late infantile neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0008777 gelatinous drop-like corneal dystrophy skos:closeMatch NANDO:1201006 Gelatinous drop-like corneal dystrophy semapv:MappingInversion +MONDO:0008783 Tangier disease skos:closeMatch NANDO:1200854 Tangier disease semapv:MappingInversion +MONDO:0008803 Antley-Bixler syndrome skos:closeMatch NANDO:1200669 Antley-Bixler syndrome semapv:MappingInversion +MONDO:0008803 Antley-Bixler syndrome skos:closeMatch NANDO:2200975 Antley-Bixler syndrome semapv:MappingInversion +MONDO:0008814 hyperargininemia skos:closeMatch NANDO:1200807 Argininemia semapv:MappingInversion +MONDO:0008814 hyperargininemia skos:closeMatch NANDO:2200482 Hyperargininemia semapv:MappingInversion +MONDO:0008815 argininosuccinic aciduria skos:closeMatch NANDO:1200806 Argininosuccinic aciduria semapv:MappingInversion +MONDO:0008815 argininosuccinic aciduria skos:closeMatch NANDO:2200481 Argininosuccinic aciduria semapv:MappingInversion +MONDO:0008830 aspartylglucosaminuria skos:closeMatch NANDO:1200133 Aspartylglucosaminuria semapv:MappingInversion +MONDO:0008830 aspartylglucosaminuria skos:closeMatch NANDO:2200555 Aspartylglucosaminuria semapv:MappingInversion +MONDO:0008840 ataxia telangiectasia skos:closeMatch NANDO:1200331 Ataxia telangiectasia semapv:MappingInversion +MONDO:0008840 ataxia telangiectasia skos:closeMatch NANDO:2200705 Ataxia telangiectasia semapv:MappingInversion +MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch NANDO:1200051 Ataxia-oculomotor apraxia type 1 semapv:MappingInversion +MONDO:0008846 atransferrinemia skos:closeMatch NANDO:2100180 Congenital atransferrinemia semapv:MappingInversion +MONDO:0008846 atransferrinemia skos:closeMatch NANDO:2200617 Congenital atransferrinemia semapv:MappingInversion +MONDO:0008852 obsolete congenital central hypoventilation syndrome skos:closeMatch NANDO:1200753 Congenital central hypoventilation syndrome semapv:MappingInversion +MONDO:0008852 obsolete congenital central hypoventilation syndrome skos:closeMatch NANDO:2100032 Congenital central hypoventilation syndrome semapv:MappingInversion +MONDO:0008852 obsolete congenital central hypoventilation syndrome skos:closeMatch NANDO:2200198 Congenital central hypoventilation syndrome semapv:MappingInversion +MONDO:0008855 MHC class II deficiency skos:closeMatch NANDO:1200329 MHC class II deficiency semapv:MappingInversion +MONDO:0008855 MHC class II deficiency skos:closeMatch NANDO:2200702 MHC class II deficiency semapv:MappingInversion +MONDO:0008863 sitosterolemia skos:closeMatch NANDO:1200853 Sitosterolemia semapv:MappingInversion +MONDO:0008867 biliary atresia skos:closeMatch NANDO:1200913 Biliary atresia semapv:MappingInversion +MONDO:0008867 biliary atresia skos:closeMatch NANDO:2200930 biliary atresia semapv:MappingInversion +MONDO:0008876 Bloom syndrome skos:closeMatch NANDO:1200333 Bloom syndrome semapv:MappingInversion +MONDO:0008876 Bloom syndrome skos:closeMatch NANDO:2200707 Bloom syndrome semapv:MappingInversion +MONDO:0008888 Williams-Campbell syndrome skos:closeMatch NANDO:2201040 Bronchomalacia semapv:MappingInversion +MONDO:0008889 thromboangiitis obliterans skos:closeMatch NANDO:1200266 Buerger's disease semapv:MappingInversion +MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:closeMatch NANDO:1201043 Progressive familial intrahepatic cholestasis type 1 semapv:MappingInversion +MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency skos:closeMatch NANDO:2200773 CARD9 deficiency semapv:MappingInversion +MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:closeMatch NANDO:1200972 Carnitine-acylcarnitine translocase deficiency semapv:MappingInversion +MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:closeMatch NANDO:2200511 Carnitine-acylcarnitine translocase deficiency semapv:MappingInversion +MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch NANDO:1200973 Systemic primary carnitine deficiency semapv:MappingInversion +MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch NANDO:2200508 Organic cation transporter 2 deficiency semapv:MappingInversion +MONDO:0008947 bilateral striopallidodentate calcinosis skos:closeMatch NANDO:1200207 Idiopathic basal ganglia calcification semapv:MappingInversion +MONDO:0008948 cerebrotendinous xanthomatosis skos:closeMatch NANDO:1200856 Cerebrotendinous xanthomatosis semapv:MappingInversion +MONDO:0008956 obsolete congenital neuronal ceroid lipofuscinosis skos:closeMatch NANDO:1200151 Congenital neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0008956 obsolete congenital neuronal ceroid lipofuscinosis skos:closeMatch NANDO:2201240 Congenital neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0008963 Chediak-Higashi syndrome skos:closeMatch NANDO:1200350 Chédiak-Higashi syndrome semapv:MappingInversion +MONDO:0008963 Chediak-Higashi syndrome skos:closeMatch NANDO:1200639 Chédiak-Higashi syndrome semapv:MappingInversion +MONDO:0008963 Chediak-Higashi syndrome skos:closeMatch NANDO:2200724 Chédiak-Higashi syndrome semapv:MappingInversion +MONDO:0008965 CHARGE syndrome skos:closeMatch NANDO:1200464 CHARGE syndrome semapv:MappingInversion +MONDO:0008965 CHARGE syndrome skos:closeMatch NANDO:2200972 CHARGE syndrome semapv:MappingInversion +MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:closeMatch NANDO:1200763 Rhizomelic chondrodysplasia punctata type 1 semapv:MappingInversion +MONDO:0008974 Greenberg dysplasia skos:closeMatch NANDO:2201361 Greenberg dysplasia semapv:MappingInversion +MONDO:0008977 chondrosarcoma skos:closeMatch NANDO:2200050 Chondrosarcoma semapv:MappingInversion +MONDO:0008978 chordoma skos:closeMatch NANDO:2200098 Chordoma semapv:MappingInversion +MONDO:0008982 central areolar choroidal dystrophy skos:closeMatch NANDO:1200939 Central areolar choroidal dystrophy semapv:MappingInversion +MONDO:0008988 citrullinemia type I skos:closeMatch NANDO:1200805 Classic citrullinemia semapv:MappingInversion +MONDO:0008988 citrullinemia type I skos:closeMatch NANDO:2200480 Argininosuccinate synthetase deficiency semapv:MappingInversion +MONDO:0008996 obsolete COACH syndrome 1 skos:closeMatch NANDO:1201050 COACH syndrome semapv:MappingInversion +MONDO:0008999 Cohen syndrome skos:closeMatch NANDO:2200750 Cohen syndrome semapv:MappingInversion +MONDO:0009006 complement component 2 deficiency skos:closeMatch NANDO:2200781 C2 deficiency semapv:MappingInversion +MONDO:0009010 aortic arch interruption skos:closeMatch NANDO:2200288 Interruption of aortic arch complex semapv:MappingInversion +MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch NANDO:2100130 Apparent mineralocorticoid excess syndrome semapv:MappingInversion +MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch NANDO:2200362 Apparent mineralocorticoid excess syndrome semapv:MappingInversion +MONDO:0009026 Costello syndrome skos:closeMatch NANDO:1200463 Costello syndrome semapv:MappingInversion +MONDO:0009026 Costello syndrome skos:closeMatch NANDO:2200971 Costello syndrome semapv:MappingInversion +MONDO:0009031 craniodiaphyseal dysplasia skos:closeMatch NANDO:2201368 Craniodiaphyseal dysplasia semapv:MappingInversion +MONDO:0009039 Baller-Gerold syndrome skos:closeMatch NANDO:1201059 Baller-Gerold syndrome semapv:MappingInversion +MONDO:0009044 Crigler-Najjar syndrome skos:closeMatch NANDO:2100272 Crigler-Najjar syndrome semapv:MappingInversion +MONDO:0009044 Crigler-Najjar syndrome skos:closeMatch NANDO:2200941 Crigler-Najjar syndrome semapv:MappingInversion +MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:closeMatch NANDO:2200353 ACTH-independent macronodular adrenal hyperplasia semapv:MappingInversion +MONDO:0009050 Cushing disease due to pituitary adenoma skos:closeMatch NANDO:1200379 Cushing disease semapv:MappingInversion +MONDO:0009050 Cushing disease due to pituitary adenoma skos:closeMatch NANDO:2200350 Cushing disease semapv:MappingInversion +MONDO:0009061 cystic fibrosis skos:closeMatch NANDO:1200922 Cystic fibrosis semapv:MappingInversion +MONDO:0009061 cystic fibrosis skos:closeMatch NANDO:1201021 Cystic fibrosis semapv:MappingInversion +MONDO:0009061 cystic fibrosis skos:closeMatch NANDO:2100035 Cystic fibrosis semapv:MappingInversion +MONDO:0009061 cystic fibrosis skos:closeMatch NANDO:2200205 Cystic fibrosis semapv:MappingInversion +MONDO:0009064 ocular cystinosis skos:closeMatch NANDO:1200164 Non-nephropathic cystinosis semapv:MappingInversion +MONDO:0009064 ocular cystinosis skos:closeMatch NANDO:2201236 Non-nephropathic cystinosis semapv:MappingInversion +MONDO:0009066 juvenile nephropathic cystinosis skos:closeMatch NANDO:1200163 Intermediate cystinosis semapv:MappingInversion +MONDO:0009066 juvenile nephropathic cystinosis skos:closeMatch NANDO:2201235 Intermediate cystinosis semapv:MappingInversion +MONDO:0009067 cystinuria skos:closeMatch NANDO:2200489 Cystinuria semapv:MappingInversion +MONDO:0009072 Dandy-Walker syndrome skos:closeMatch NANDO:2200821 Dandy-Walker syndrome semapv:MappingInversion +MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:closeMatch NANDO:1200658 Nasu-Hakola disease semapv:MappingInversion +MONDO:0009096 obsolete hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia skos:closeMatch NANDO:1200546 Hereditary diffuse leukoencephalopathy with spheroid semapv:MappingInversion +MONDO:0009109 lysinuric protein intolerance skos:closeMatch NANDO:1200809 Lysinuric protein intolerance semapv:MappingInversion +MONDO:0009109 lysinuric protein intolerance skos:closeMatch NANDO:2200488 Lysinuric protein intolerance semapv:MappingInversion +MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 skos:closeMatch NANDO:1200771 Rhizomelic chondrodysplasia punctata type 2 semapv:MappingInversion +MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch NANDO:2200908 Congenital sucrase-isomaltase deficiency semapv:MappingInversion +MONDO:0009116 obsolete lactose intolerance skos:closeMatch NANDO:2200907 Lactose intolerance semapv:MappingInversion +MONDO:0009123 orthostatic hypotension 1 skos:closeMatch NANDO:2200597 Dopamine beta hydroxylase deficiency semapv:MappingInversion +MONDO:0009134 congenital dyserythropoietic anemia type 2 skos:closeMatch NANDO:1200887 Congenital dyserythropoietic anemia type II semapv:MappingInversion +MONDO:0009138 dysosteosclerosis skos:closeMatch NANDO:2201365 Dysosteosclerosis semapv:MappingInversion +MONDO:0009141 torsion dystonia 2 skos:closeMatch NANDO:1200513 Dystonia 2 semapv:MappingInversion +MONDO:0009144 Ebstein anomaly skos:closeMatch NANDO:1200711 Ebstein's anomaly semapv:MappingInversion +MONDO:0009144 Ebstein anomaly skos:closeMatch NANDO:2100080 Ebstein's anomaly semapv:MappingInversion +MONDO:0009144 Ebstein anomaly skos:closeMatch NANDO:2200260 Ebstein's anomaly semapv:MappingInversion +MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch NANDO:1200651 Ehlers-Danlos syndrome, dermatosparaxis type semapv:MappingInversion +MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch NANDO:2201261 Ehlers-Danlos syndrome, dermatosparaxis type semapv:MappingInversion +MONDO:0009169 endocardial fibroelastosis skos:closeMatch NANDO:2100060 Endocardial fibroelastosis semapv:MappingInversion +MONDO:0009169 endocardial fibroelastosis skos:closeMatch NANDO:2200235 Endocardial fibroelastosis semapv:MappingInversion +MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:closeMatch NANDO:2200910 Enterokinase deficiency semapv:MappingInversion +MONDO:0009176 epidermodysplasia verruciformis skos:closeMatch NANDO:2200768 Epidermodysplasia verruciformis semapv:MappingInversion +MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch NANDO:1200238 Recessive dystrophic epidermolysis bullosa semapv:MappingInversion +MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch NANDO:2201383 Recessive dystrophic epidermolysis bullosa, generalized severe semapv:MappingInversion +MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch NANDO:1201066 Non-Herlitz junctional epidermolysis bullosa semapv:MappingInversion +MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch NANDO:2201379 Non-Herlitz junctional epidermolysis bullosa semapv:MappingInversion +MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy skos:closeMatch NANDO:2201376 Epidermolysis bullosa simplex with muscular dystrophy semapv:MappingInversion +MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:closeMatch NANDO:1201065 Herlitz junctional epidermolysis bullosa semapv:MappingInversion +MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:closeMatch NANDO:2200119 Herlitz junctional epidermolysis bullosa semapv:MappingInversion +MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:closeMatch NANDO:2201378 Herlitz junctional epidermolysis bullosa semapv:MappingInversion +MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch NANDO:2201380 Junctional epidermolysis bullosa with pyloric atresia semapv:MappingInversion +MONDO:0009194 immunodeficiency 32B skos:closeMatch NANDO:2200808 Chronic active EB virus infection semapv:MappingInversion +MONDO:0009218 Farber lipogranulomatosis skos:closeMatch NANDO:1200086 Farber disease semapv:MappingInversion +MONDO:0009218 Farber lipogranulomatosis skos:closeMatch NANDO:2200565 Farber disease semapv:MappingInversion +MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:closeMatch NANDO:2200685 High molecular weight kininogen deficiency semapv:MappingInversion +MONDO:0009238 hereditary folate malabsorption skos:closeMatch NANDO:1200810 Hereditary folate malabsorption semapv:MappingInversion +MONDO:0009238 hereditary folate malabsorption skos:closeMatch NANDO:2200592 Hereditary folate malabsorption semapv:MappingInversion +MONDO:0009249 hereditary fructose intolerance skos:closeMatch NANDO:2200531 Hereditary fructose intolerance semapv:MappingInversion +MONDO:0009251 fructose-1,6-bisphosphatase deficiency skos:closeMatch NANDO:2200535 Fructose-1,6-bisphosphatase deficiency semapv:MappingInversion +MONDO:0009254 fucosidosis skos:closeMatch NANDO:1200130 Fucosidosis semapv:MappingInversion +MONDO:0009254 fucosidosis skos:closeMatch NANDO:2200553 Fucosidosis semapv:MappingInversion +MONDO:0009255 galactokinase deficiency skos:closeMatch NANDO:2200533 Galactokinase deficiency semapv:MappingInversion +MONDO:0009257 galactose epimerase deficiency skos:closeMatch NANDO:2200534 UDP-galactose-4-epimerase deficiency semapv:MappingInversion +MONDO:0009258 classic galactosemia skos:closeMatch NANDO:1200851 Galactose-1-phosphate uridyltransferase deficiency semapv:MappingInversion +MONDO:0009258 classic galactosemia skos:closeMatch NANDO:2200532 Galactose-1-phosphate uridyltransferase deficiency semapv:MappingInversion +MONDO:0009260 GM1 gangliosidosis type 1 skos:closeMatch NANDO:1200067 Infantile GM1 gangliosidosis semapv:MappingInversion +MONDO:0009260 GM1 gangliosidosis type 1 skos:closeMatch NANDO:2201196 GM1 gangliosidosis, infantile form semapv:MappingInversion +MONDO:0009261 GM1 gangliosidosis type 2 skos:closeMatch NANDO:1200068 Juvenile GM1 gangliosidosis semapv:MappingInversion +MONDO:0009261 GM1 gangliosidosis type 2 skos:closeMatch NANDO:2201197 GM1 gangliosidosis, juvenile form semapv:MappingInversion +MONDO:0009262 GM1 gangliosidosis type 3 skos:closeMatch NANDO:1200069 Adult GM1 gangliosidosis semapv:MappingInversion +MONDO:0009262 GM1 gangliosidosis type 3 skos:closeMatch NANDO:2201198 GM1 gangliosidosis, adult form semapv:MappingInversion +MONDO:0009265 Gaucher disease type I skos:closeMatch NANDO:1200057 Gaucher disease type 1 semapv:MappingInversion +MONDO:0009265 Gaucher disease type I skos:closeMatch NANDO:2201210 Gaucher disease type 1 semapv:MappingInversion +MONDO:0009266 Gaucher disease type II skos:closeMatch NANDO:1200058 Gaucher disease type 2 semapv:MappingInversion +MONDO:0009266 Gaucher disease type II skos:closeMatch NANDO:2201211 Gaucher disease type 2 semapv:MappingInversion +MONDO:0009267 Gaucher disease type III skos:closeMatch NANDO:1200059 Gaucher disease type 3 semapv:MappingInversion +MONDO:0009267 Gaucher disease type III skos:closeMatch NANDO:2201212 Gaucher disease type 3 semapv:MappingInversion +MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch NANDO:2200656 Bernard-Soulier syndrome semapv:MappingInversion +MONDO:0009278 obsolete hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency skos:closeMatch NANDO:2200516 3-hydroxy acyl-CoA dehydrogenase deficiency semapv:MappingInversion +MONDO:0009279 triple-A syndrome skos:closeMatch NANDO:1200410 Allgrove syndrome semapv:MappingInversion +MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch NANDO:1200800 Glutaric acidemia type 1 semapv:MappingInversion +MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch NANDO:2200501 Glutaric acidemia type 1 semapv:MappingInversion +MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch NANDO:1200801 Glutaric acidemia type 2 semapv:MappingInversion +MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch NANDO:2200502 Glutaric acidemia type 2 semapv:MappingInversion +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch NANDO:2201153 Glycogen storage disease type 1a semapv:MappingInversion +MONDO:0009288 glycogen storage disease Ib skos:closeMatch NANDO:1200841 Hepatic glycogen storage disease type Ib semapv:MappingInversion +MONDO:0009288 glycogen storage disease Ib skos:closeMatch NANDO:2200754 Glycogen storage disease type 1b semapv:MappingInversion +MONDO:0009288 glycogen storage disease Ib skos:closeMatch NANDO:2201154 Glycogen storage disease type 1b semapv:MappingInversion +MONDO:0009290 glycogen storage disease II skos:closeMatch NANDO:1200138 Pompe disease semapv:MappingInversion +MONDO:0009290 glycogen storage disease II skos:closeMatch NANDO:1200825 Glycogen storage diseases type II semapv:MappingInversion +MONDO:0009290 glycogen storage disease II skos:closeMatch NANDO:2200569 Pompe disease semapv:MappingInversion +MONDO:0009291 glycogen storage disease III skos:closeMatch NANDO:1200826 Glycogen storage diseases type III semapv:MappingInversion +MONDO:0009291 glycogen storage disease III skos:closeMatch NANDO:1200844 Hepatic GSD type IIIc semapv:MappingInversion +MONDO:0009291 glycogen storage disease III skos:closeMatch NANDO:1201019 Hepatic glycogen storage disease type III semapv:MappingInversion +MONDO:0009291 glycogen storage disease III skos:closeMatch NANDO:2200539 Glycogen storage disease type III semapv:MappingInversion +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch NANDO:1200827 Glycogen storage diseases type IV semapv:MappingInversion +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch NANDO:1200850 Hepatic glycogen storage disease type IV semapv:MappingInversion +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch NANDO:2200540 Glycogen storage disease type IV semapv:MappingInversion +MONDO:0009293 glycogen storage disease V skos:closeMatch NANDO:1200828 Glycogen storage diseases type V semapv:MappingInversion +MONDO:0009293 glycogen storage disease V skos:closeMatch NANDO:2200541 Glycogen storage disease type V semapv:MappingInversion +MONDO:0009294 glycogen storage disease VI skos:closeMatch NANDO:1200846 Hepatic glycogen storage disease type VI semapv:MappingInversion +MONDO:0009294 glycogen storage disease VI skos:closeMatch NANDO:2200542 Glycogen storage disease type VI semapv:MappingInversion +MONDO:0009295 glycogen storage disease VII skos:closeMatch NANDO:1200823 Muscle glycogen storage disease semapv:MappingInversion +MONDO:0009295 glycogen storage disease VII skos:closeMatch NANDO:1200829 Glycogen storage diseases type VII semapv:MappingInversion +MONDO:0009295 glycogen storage disease VII skos:closeMatch NANDO:2200543 Glycogen storage disease type VII semapv:MappingInversion +MONDO:0009299 46 XX gonadal dysgenesis skos:closeMatch NANDO:2200384 Ovarian dysgenesis semapv:MappingInversion +MONDO:0009303 anti-glomerular basement membrane disease skos:closeMatch NANDO:1200717 Anti-GBM rapidly progressive glomerulonephritis semapv:MappingInversion +MONDO:0009303 anti-glomerular basement membrane disease skos:closeMatch NANDO:1200718 Goodpasture syndrome semapv:MappingInversion +MONDO:0009303 anti-glomerular basement membrane disease skos:closeMatch NANDO:2200125 Goodpasture syndrome semapv:MappingInversion +MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative skos:closeMatch NANDO:2201280 p22phox-deficient chronic granulomatous disease semapv:MappingInversion +MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 skos:closeMatch NANDO:2201281 p47phox-deficient chronic granulomatous disease semapv:MappingInversion +MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 skos:closeMatch NANDO:2201282 p67phox-deficient chronic granulomatous disease semapv:MappingInversion +MONDO:0009315 congenital factor XII deficiency skos:closeMatch NANDO:2200680 Factor XII deficiency semapv:MappingInversion +MONDO:0009318 Hallermann-Streiff syndrome skos:closeMatch NANDO:2200973 Hallermann-Streiff syndrome semapv:MappingInversion +MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch NANDO:1200534 Neurodegeneration with brain iron accumulation type 1 semapv:MappingInversion +MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch NANDO:2200886 Pantothenate kinase-associated neurodegeneration semapv:MappingInversion +MONDO:0009324 Hartnup disease skos:closeMatch NANDO:2200487 Hartnup disease semapv:MappingInversion +MONDO:0009326 congenital heart block skos:closeMatch NANDO:2200214 Complete atrio-ventricular block semapv:MappingInversion +MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:closeMatch NANDO:1200341 Hepatic veno-occlusive disease with immunodeficiency semapv:MappingInversion +MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:closeMatch NANDO:2200714 Hepatic veno-occlusive disease with immunodeficiency semapv:MappingInversion +MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch NANDO:1200663 Mowat-Wilson syndrome semapv:MappingInversion +MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch NANDO:2200981 Mowat-Wilson syndrome semapv:MappingInversion +MONDO:0009352 classic homocystinuria skos:closeMatch NANDO:1201039 Homocystinuria type 1 semapv:MappingInversion +MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency skos:closeMatch NANDO:1201041 Homocystinuria type 3 semapv:MappingInversion +MONDO:0009354 methylcobalamin deficiency type cblE skos:closeMatch NANDO:2201109 Methylcobalamin deficiency cblE type semapv:MappingInversion +MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:closeMatch NANDO:1200803 Carbamoyl phosphate synthetase I deficiency semapv:MappingInversion +MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:closeMatch NANDO:2200478 Carbamoylphosphate synthetase deficiency semapv:MappingInversion +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch NANDO:1200808 NAGS deficiency semapv:MappingInversion +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch NANDO:2200477 N-acetylglutamate synthetase deficiency semapv:MappingInversion +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch NANDO:2201084 Presymptomatic N-acetylglutamate synthetase deficiency semapv:MappingInversion +MONDO:0009393 ornithine translocase deficiency skos:closeMatch NANDO:2200485 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:MappingInversion +MONDO:0009410 obsolete Addison disease skos:closeMatch NANDO:1200411 Addison's disease semapv:MappingInversion +MONDO:0009410 obsolete Addison disease skos:closeMatch NANDO:1200412 Autoimmune Addison's disease semapv:MappingInversion +MONDO:0009410 obsolete Addison disease skos:closeMatch NANDO:2200359 Other chronic adrenal insufficiency semapv:MappingInversion +MONDO:0009410 obsolete Addison disease skos:closeMatch NANDO:2200360 Addison's disease semapv:MappingInversion +MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:closeMatch NANDO:2200346 Autoimmune polyendocrinopathy type 1 semapv:MappingInversion +MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:closeMatch NANDO:2200738 Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy semapv:MappingInversion +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch NANDO:1200824 Glycogen storage diseases type 0 semapv:MappingInversion +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch NANDO:1200838 Hepatic glycogen storage disease semapv:MappingInversion +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch NANDO:2200537 Glycogen synthase deficiency semapv:MappingInversion +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch NANDO:2201151 Glycogen storage disease type 0a semapv:MappingInversion +MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:closeMatch NANDO:1200614 Harlequin ichthyosis semapv:MappingInversion +MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:closeMatch NANDO:2200992 Harlequin ichthyosis semapv:MappingInversion +MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch NANDO:1200337 Schimke syndrome semapv:MappingInversion +MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch NANDO:2200711 Schimke syndrome semapv:MappingInversion +MONDO:0009475 isovaleric acidemia skos:closeMatch NANDO:1200798 Isovaleric acidemia semapv:MappingInversion +MONDO:0009475 isovaleric acidemia skos:closeMatch NANDO:2200494 Isovaleric acidemia semapv:MappingInversion +MONDO:0009480 Joubert syndrome with oculorenal defect skos:closeMatch NANDO:1200662 Arima syndrome semapv:MappingInversion +MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch NANDO:2200499 Succinyl-CoA:3-ketoacid CoA transferase deficiency semapv:MappingInversion +MONDO:0009499 Krabbe disease skos:closeMatch NANDO:1200074 Krabbe disease semapv:MappingInversion +MONDO:0009499 Krabbe disease skos:closeMatch NANDO:2200564 Krabbe disease semapv:MappingInversion +MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch NANDO:1200602 Landau-Kleffner syndrome semapv:MappingInversion +MONDO:0009515 Norum disease skos:closeMatch NANDO:1200852 Lecithin cholesterol acyltransferase deficiency semapv:MappingInversion +MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch NANDO:2200497 3-hydroxy-3-methylglutaric acidemia semapv:MappingInversion +MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch NANDO:2201119 Presymptomatic 3-hydroxy-3-methylglutaric acidemia semapv:MappingInversion +MONDO:0009530 lipoid proteinosis skos:closeMatch NANDO:2200608 Lipoid proteinosis semapv:MappingInversion +MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:closeMatch NANDO:1201083 Miller Dieker syndrome semapv:MappingInversion +MONDO:0009537 lymphoid interstitial pneumonia skos:closeMatch NANDO:1200424 Lymphoid interstitial pneumonia semapv:MappingInversion +MONDO:0009561 alpha-mannosidosis skos:closeMatch NANDO:1200126 Alpha-mannosidosis semapv:MappingInversion +MONDO:0009562 beta-mannosidosis skos:closeMatch NANDO:1200129 Beta-mannosidosis semapv:MappingInversion +MONDO:0009562 beta-mannosidosis skos:closeMatch NANDO:2201190 Beta-mannosidosis semapv:MappingInversion +MONDO:0009563 maple syrup urine disease skos:closeMatch NANDO:1200791 Maple syrup urine disease semapv:MappingInversion +MONDO:0009563 maple syrup urine disease skos:closeMatch NANDO:2200473 Maple syrup urine disease semapv:MappingInversion +MONDO:0009567 Marinesco-Sjogren syndrome skos:closeMatch NANDO:1200485 Marinesco-Sjogren syndrome semapv:MappingInversion +MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch NANDO:1200864 Typical familial Mediterranean fever semapv:MappingInversion +MONDO:0009578 neurocutaneous melanocytosis skos:closeMatch NANDO:2200827 Neurocutaneous melanosis semapv:MappingInversion +MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency skos:closeMatch NANDO:1200082 Saposin B deficiency semapv:MappingInversion +MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency skos:closeMatch NANDO:2201205 Saposin B deficiency semapv:MappingInversion +MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch NANDO:1200080 Juvenile ｍetachromatic leukodystrophy semapv:MappingInversion +MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch NANDO:2201203 Metachromatic leukodystrophy, juvenile form semapv:MappingInversion +MONDO:0009609 methylcobalamin deficiency type cblG skos:closeMatch NANDO:2201111 Methylcobalamin deficiency cblG type semapv:MappingInversion +MONDO:0009610 3-methylglutaconic aciduria type 1 skos:closeMatch NANDO:1200990 3-methylglutaconic aciduria type I semapv:MappingInversion +MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:closeMatch NANDO:1200794 Methylmalonyl-Coenzyme A mutase deficiency semapv:MappingInversion +MONDO:0009613 methylmalonic aciduria, cblA type skos:closeMatch NANDO:1200795 Methylmalonic acidemia cblA type semapv:MappingInversion +MONDO:0009613 methylmalonic aciduria, cblA type skos:closeMatch NANDO:2201105 Methylmalonic acidemia cblA type semapv:MappingInversion +MONDO:0009614 methylmalonic aciduria, cblB type skos:closeMatch NANDO:1200796 Methylmalonic acidemia cblB type semapv:MappingInversion +MONDO:0009614 methylmalonic aciduria, cblB type skos:closeMatch NANDO:2201106 Methylmalonic acidemia cblB type semapv:MappingInversion +MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch NANDO:1200332 Nijmegen breakage syndrome semapv:MappingInversion +MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch NANDO:2200706 Nijmegen breakage syndrome semapv:MappingInversion +MONDO:0009627 Galloway-Mowat syndrome skos:closeMatch NANDO:1200713 Galloway-Mowat syndrome semapv:MappingInversion +MONDO:0009627 Galloway-Mowat syndrome skos:closeMatch NANDO:2200120 Galloway-Mowat syndrome semapv:MappingInversion +MONDO:0009627 Galloway-Mowat syndrome skos:closeMatch NANDO:2201385 Galloway-Mowat syndrome semapv:MappingInversion +MONDO:0009635 microvillus inclusion disease skos:closeMatch NANDO:2100255 Microvillus inclusion disease semapv:MappingInversion +MONDO:0009635 microvillus inclusion disease skos:closeMatch NANDO:2200913 Microvillus inclusion disease semapv:MappingInversion +MONDO:0009641 obsolete mitochondrial complex II deficiency skos:closeMatch NANDO:1200181 Mitochondrial complex II deficiency semapv:MappingInversion +MONDO:0009650 mucolipidosis type II skos:closeMatch NANDO:1200124 Mucolipidosis II semapv:MappingInversion +MONDO:0009650 mucolipidosis type II skos:closeMatch NANDO:2200567 Mucolipidosis II semapv:MappingInversion +MONDO:0009655 mucopolysaccharidosis type 3A skos:closeMatch NANDO:1200101 Sanfilippo disease type A semapv:MappingInversion +MONDO:0009655 mucopolysaccharidosis type 3A skos:closeMatch NANDO:2201174 Mucopolysaccharidosis type III A semapv:MappingInversion +MONDO:0009656 mucopolysaccharidosis type 3B skos:closeMatch NANDO:1200102 Sanfilippo disease type B semapv:MappingInversion +MONDO:0009656 mucopolysaccharidosis type 3B skos:closeMatch NANDO:2201175 Mucopolysaccharidosis type III B semapv:MappingInversion +MONDO:0009657 mucopolysaccharidosis type 3C skos:closeMatch NANDO:1200103 Sanfilippo disease type C semapv:MappingInversion +MONDO:0009657 mucopolysaccharidosis type 3C skos:closeMatch NANDO:2201176 Mucopolysaccharidosis type III C semapv:MappingInversion +MONDO:0009658 mucopolysaccharidosis type 3D skos:closeMatch NANDO:1200104 Sanfilippo disease type D semapv:MappingInversion +MONDO:0009658 mucopolysaccharidosis type 3D skos:closeMatch NANDO:2201177 Mucopolysaccharidosis type III D semapv:MappingInversion +MONDO:0009659 mucopolysaccharidosis type 4A skos:closeMatch NANDO:1200106 Morquio syndrome type A semapv:MappingInversion +MONDO:0009659 mucopolysaccharidosis type 4A skos:closeMatch NANDO:2201178 Mucopolysaccharidosis type IV A semapv:MappingInversion +MONDO:0009660 mucopolysaccharidosis type 4B skos:closeMatch NANDO:1200107 Morquio syndrome type B semapv:MappingInversion +MONDO:0009660 mucopolysaccharidosis type 4B skos:closeMatch NANDO:2201179 Mucopolysaccharidosis type IV B semapv:MappingInversion +MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch NANDO:1200108 Maroteaux-Lamy syndrome semapv:MappingInversion +MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch NANDO:1200109 Maroteaux Lamy syndrome, rapidly progressing form semapv:MappingInversion +MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch NANDO:1200110 Maroteaux Lamy syndrome, slowly progressing form semapv:MappingInversion +MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch NANDO:2200551 Mucopolysaccharidosis type VI semapv:MappingInversion +MONDO:0009662 mucopolysaccharidosis type 7 skos:closeMatch NANDO:1200111 Sly syndrome semapv:MappingInversion +MONDO:0009662 mucopolysaccharidosis type 7 skos:closeMatch NANDO:2200552 Mucopolysaccharidosis type VII semapv:MappingInversion +MONDO:0009665 biotinidase deficiency skos:closeMatch NANDO:1200822 Biotinidase deficiency semapv:MappingInversion +MONDO:0009666 holocarboxylase synthetase deficiency skos:closeMatch NANDO:1200821 Holocarboxylase synthetase deficiency semapv:MappingInversion +MONDO:0009669 spinal muscular atrophy, type 1 skos:closeMatch NANDO:1200004 Spinal muscular atrophy type I semapv:MappingInversion +MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch NANDO:1200006 Spinal muscular atrophy type III semapv:MappingInversion +MONDO:0009673 spinal muscular atrophy, type II skos:closeMatch NANDO:1200005 Spinal muscular atrophy type II semapv:MappingInversion +MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:closeMatch NANDO:1200494 Fukuyama type congenital muscular dystrophy semapv:MappingInversion +MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:closeMatch NANDO:2200860 Fukuyama type congenital muscular dystrophy semapv:MappingInversion +MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch NANDO:1200215 Ullrich disease semapv:MappingInversion +MONDO:0009685 Miyoshi myopathy skos:closeMatch NANDO:1200217 Miyoshi myopathy semapv:MappingInversion +MONDO:0009688 myasthenia gravis skos:closeMatch NANDO:1200020 Myasthenia gravis semapv:MappingInversion +MONDO:0009688 myasthenia gravis skos:closeMatch NANDO:2100252 Myasthenia gravis semapv:MappingInversion +MONDO:0009688 myasthenia gravis skos:closeMatch NANDO:2200906 Myasthenia gravis semapv:MappingInversion +MONDO:0009689 congenital myasthenic syndrome 6 skos:closeMatch NANDO:1201057 Congenital myasthenic syndrome with episodic apnoea semapv:MappingInversion +MONDO:0009694 myeloperoxidase deficiency skos:closeMatch NANDO:1200358 Myeloperoxidase deficiency semapv:MappingInversion +MONDO:0009694 myeloperoxidase deficiency skos:closeMatch NANDO:2200758 Myeloperoxidase deficiency semapv:MappingInversion +MONDO:0009697 Lafora disease skos:closeMatch NANDO:1200955 Lafora disease semapv:MappingInversion +MONDO:0009697 Lafora disease skos:closeMatch NANDO:2200881 Lafora disease semapv:MappingInversion +MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch NANDO:1200954 Unverricht-Lundborg disease semapv:MappingInversion +MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch NANDO:2200880 Unverricht-Lundborg disease semapv:MappingInversion +MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:closeMatch NANDO:1200970 Carnitine palmitoyltransferase I deficiency semapv:MappingInversion +MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:closeMatch NANDO:2200509 Carnitine palmitoyltransferase I deficiency semapv:MappingInversion +MONDO:0009710 Thomsen and Becker disease skos:closeMatch NANDO:1200497 Myotonia congenita semapv:MappingInversion +MONDO:0009710 Thomsen and Becker disease skos:closeMatch NANDO:1200498 Thomsen disease semapv:MappingInversion +MONDO:0009711 congenital fiber-type disproportion myopathy skos:closeMatch NANDO:1200483 Congenital fiber-type disproportion myopathy semapv:MappingInversion +MONDO:0009711 congenital fiber-type disproportion myopathy skos:closeMatch NANDO:2200868 Congenital fiber-type disproportion myopathy semapv:MappingInversion +MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch NANDO:2200872 Minicore myopathy semapv:MappingInversion +MONDO:0009715 myotonia congenita, autosomal recessive skos:closeMatch NANDO:1200499 Becker disease semapv:MappingInversion +MONDO:0009717 Schwartz-Jampel syndrome skos:closeMatch NANDO:1200224 Schwartz-Jampel syndrome semapv:MappingInversion +MONDO:0009717 Schwartz-Jampel syndrome skos:closeMatch NANDO:2100235 Schwartz-Jampel syndrome semapv:MappingInversion +MONDO:0009717 Schwartz-Jampel syndrome skos:closeMatch NANDO:2200876 Schwartz-Jampel syndrome semapv:MappingInversion +MONDO:0009723 Leigh syndrome skos:closeMatch NANDO:1200175 Leigh's encephalomyelopathy semapv:MappingInversion +MONDO:0009723 Leigh syndrome skos:closeMatch NANDO:2200527 Leigh syndrome semapv:MappingInversion +MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:closeMatch NANDO:1200867 Nakajo-Nishimura syndrome semapv:MappingInversion +MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:closeMatch NANDO:2200435 Nakajo-Nishimura syndrome semapv:MappingInversion +MONDO:0009728 nephronophthisis 1 skos:closeMatch NANDO:1201036 Nephronophthisis semapv:MappingInversion +MONDO:0009728 nephronophthisis 1 skos:closeMatch NANDO:2200140 Nephronophthisis semapv:MappingInversion +MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:closeMatch NANDO:2200110 Congenital nephrotic syndrome of the Finnish type semapv:MappingInversion +MONDO:0009735 Netherton syndrome skos:closeMatch NANDO:1200338 Netherton syndrome semapv:MappingInversion +MONDO:0009735 Netherton syndrome skos:closeMatch NANDO:1200619 Netherton syndrome semapv:MappingInversion +MONDO:0009735 Netherton syndrome skos:closeMatch NANDO:2200993 Netherton syndrome semapv:MappingInversion +MONDO:0009737 galactosialidosis skos:closeMatch NANDO:1200119 Galactosialidosis semapv:MappingInversion +MONDO:0009737 galactosialidosis skos:closeMatch NANDO:2200557 Galactosialidosis semapv:MappingInversion +MONDO:0009738 sialidosis type 2 skos:closeMatch NANDO:1200118 Sialidosis type 2 semapv:MappingInversion +MONDO:0009738 sialidosis type 2 skos:closeMatch NANDO:1200120 Galactosialidosis, early infantile form semapv:MappingInversion +MONDO:0009738 sialidosis type 2 skos:closeMatch NANDO:2201192 Sialidosis type 2 semapv:MappingInversion +MONDO:0009738 sialidosis type 2 skos:closeMatch NANDO:2201193 Galactosialidosis, early infantile form semapv:MappingInversion +MONDO:0009739 obsolete infantile neuroaxonal dystrophy skos:closeMatch NANDO:2200887 Infantile neuroaxonal dystrophy semapv:MappingInversion +MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch NANDO:1200152 Infantile neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch NANDO:2201241 Infantile neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:closeMatch NANDO:1200553 Congenital insensitivity to pain with anhidrosis semapv:MappingInversion +MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:closeMatch NANDO:2200854 Congenital insensitivity to pain with anhidrosis semapv:MappingInversion +MONDO:0009756 Niemann-Pick disease type A skos:closeMatch NANDO:1200061 Niemann-Pick disease type A semapv:MappingInversion +MONDO:0009756 Niemann-Pick disease type A skos:closeMatch NANDO:2201206 Niemann-Pick disease type A semapv:MappingInversion +MONDO:0009763 obesity-hypoventilation syndrome skos:closeMatch NANDO:1200752 Obesity hypoventilation syndrome semapv:MappingInversion +MONDO:0009774 cloacal exstrophy skos:closeMatch NANDO:1200909 Cloacal exstrophy semapv:MappingInversion +MONDO:0009774 cloacal exstrophy skos:closeMatch NANDO:1200910 Persistent cloaca semapv:MappingInversion +MONDO:0009774 cloacal exstrophy skos:closeMatch NANDO:2200950 Persistent cloaca semapv:MappingInversion +MONDO:0009774 cloacal exstrophy skos:closeMatch NANDO:2200951 Cloacal exstrophy semapv:MappingInversion +MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch NANDO:1200992 3-methylglutaconic aciduria type III semapv:MappingInversion +MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch NANDO:2200484 Hyperornithinemia semapv:MappingInversion +MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch NANDO:2200486 Gyrate atrophy of choroid and retina semapv:MappingInversion +MONDO:0009797 orotic aciduria skos:closeMatch NANDO:2200590 Orotic aciduria semapv:MappingInversion +MONDO:0009799 obsolete pachydermoperiostosis skos:closeMatch NANDO:1200642 Pachydermoperiostosis semapv:MappingInversion +MONDO:0009799 obsolete pachydermoperiostosis skos:closeMatch NANDO:2100288 Pachydermoperiostosis semapv:MappingInversion +MONDO:0009799 obsolete pachydermoperiostosis skos:closeMatch NANDO:2201004 Pachydermoperiostosis semapv:MappingInversion +MONDO:0009807 osteosarcoma skos:closeMatch NANDO:2200048 Osteosarcoma semapv:MappingInversion +MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:closeMatch NANDO:1200869 Chronic recurrent multifocal osteomyelitis semapv:MappingInversion +MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:closeMatch NANDO:2200438 Chronic recurrent multifocal osteomyelitis semapv:MappingInversion +MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch NANDO:1200773 Primary hyperoxaluria type 1 semapv:MappingInversion +MONDO:0009833 Shwachman-Diamond syndrome skos:closeMatch NANDO:1200356 Shwachman-Diamond syndrome semapv:MappingInversion +MONDO:0009833 Shwachman-Diamond syndrome skos:closeMatch NANDO:2200756 Shwachman-Diamond syndrome semapv:MappingInversion +MONDO:0009835 subacute sclerosing panencephalitis skos:closeMatch NANDO:1200195 Subacute sclerosing panencephalitis semapv:MappingInversion +MONDO:0009835 subacute sclerosing panencephalitis skos:closeMatch NANDO:1200196 Typical subacute sclerosing panencephalitis semapv:MappingInversion +MONDO:0009835 subacute sclerosing panencephalitis skos:closeMatch NANDO:1200198 Subacute progressive sclerosing panencephalitis semapv:MappingInversion +MONDO:0009835 subacute sclerosing panencephalitis skos:closeMatch NANDO:2100245 Subacute sclerosing panencephalitis semapv:MappingInversion +MONDO:0009835 subacute sclerosing panencephalitis skos:closeMatch NANDO:2200899 Subacute sclerosing panencephalitis semapv:MappingInversion +MONDO:0009837 choroid plexus papilloma skos:closeMatch NANDO:2200093 Choroid plexus papilloma semapv:MappingInversion +MONDO:0009849 hyperimmunoglobulinemia D with periodic fever skos:closeMatch NANDO:1200866 Hyper IgD syndrome semapv:MappingInversion +MONDO:0009849 hyperimmunoglobulinemia D with periodic fever skos:closeMatch NANDO:2200436 Hyper IgD syndrome semapv:MappingInversion +MONDO:0009855 d-bifunctional protein deficiency skos:closeMatch NANDO:1200766 D-bifunctional protein deficiency semapv:MappingInversion +MONDO:0009861 phenylketonuria skos:closeMatch NANDO:1200784 Phenylketonuria semapv:MappingInversion +MONDO:0009861 phenylketonuria skos:closeMatch NANDO:1200785 Phenylalanine hydroxylase deficiency semapv:MappingInversion +MONDO:0009861 phenylketonuria skos:closeMatch NANDO:2200467 Phenylketonuria semapv:MappingInversion +MONDO:0009861 phenylketonuria skos:closeMatch NANDO:2201075 Phenylalanine hydroxylase deficiency semapv:MappingInversion +MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch NANDO:1200832 Glycogen storage diseases type X semapv:MappingInversion +MONDO:0009868 glycogen storage disease IXb skos:closeMatch NANDO:1200848 Hepatic glycogen storage disease type IXb semapv:MappingInversion +MONDO:0009868 glycogen storage disease IXb skos:closeMatch NANDO:2201165 Glycogen storage disease type IXb semapv:MappingInversion +MONDO:0009883 alpha-2-plasmin inhibitor deficiency skos:closeMatch NANDO:2200687 Alpha-2-plasmin inhibitor deficiency semapv:MappingInversion +MONDO:0009885 Scott syndrome skos:closeMatch NANDO:2200671 Scott syndrome semapv:MappingInversion +MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch NANDO:1200422 Desquamative interstitial pneumonia semapv:MappingInversion +MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch NANDO:1200423 Respiratory bronchiolitis-associated interstitial lung disease semapv:MappingInversion +MONDO:0009889 autosomal recessive polycystic kidney disease skos:closeMatch NANDO:1200369 Autosomal recessive polycystic kidney disease semapv:MappingInversion +MONDO:0009889 autosomal recessive polycystic kidney disease skos:closeMatch NANDO:2200154 Autosomal recessive polycystic kidney disease semapv:MappingInversion +MONDO:0009891 acquired polycythemia vera skos:closeMatch NANDO:2100186 Polycythemia vera semapv:MappingInversion +MONDO:0009891 acquired polycythemia vera skos:closeMatch NANDO:2200643 Polycythemia vera semapv:MappingInversion +MONDO:0009897 adult polyglucosan body disease skos:closeMatch NANDO:2201163 Glycogen storage disease type IV, adult form semapv:MappingInversion +MONDO:0009902 cutaneous porphyria skos:closeMatch NANDO:1200817 Congenital erythropoietic porphyria semapv:MappingInversion +MONDO:0009902 cutaneous porphyria skos:closeMatch NANDO:2201268 Congenital erythropoietic porphyria semapv:MappingInversion +MONDO:0009904 Gitelman syndrome skos:closeMatch NANDO:2100020 Gitelman syndrome semapv:MappingInversion +MONDO:0009904 Gitelman syndrome skos:closeMatch NANDO:2200145 Gitelman syndrome semapv:MappingInversion +MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch NANDO:2200390 17 beta-hydroxysteroid dehydrogenase deficiency semapv:MappingInversion +MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:closeMatch NANDO:1200765 Peroxisomal acyl-CoA oxidase deficiency semapv:MappingInversion +MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:closeMatch NANDO:2200389 5 alpha-reductase deficiency semapv:MappingInversion +MONDO:0009924 vitamin D-dependent rickets, type 1 skos:closeMatch NANDO:1200782 Vitamin D-dependent rickets, type 1 semapv:MappingInversion +MONDO:0009928 pulmonary alveolar microlithiasis skos:closeMatch NANDO:2200202 Pulmonary alveolar microlithiasis semapv:MappingInversion +MONDO:0009930 obsolete pulmonary arteriovenous malformation skos:closeMatch NANDO:2200295 Pulmonary arteriovenous fistulae semapv:MappingInversion +MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:closeMatch NANDO:1200707 Pulmonary atresia with intact ventricular septum semapv:MappingInversion +MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:closeMatch NANDO:2200253 Pulmonary atresia with intact ventricular septum semapv:MappingInversion +MONDO:0009937 pulmonary venoocclusive disease skos:closeMatch NANDO:1200427 Pulmonary veno-occlusive disease semapv:MappingInversion +MONDO:0009940 pycnodysostosis skos:closeMatch NANDO:2201023 Pycnodysostosis semapv:MappingInversion +MONDO:0009943 Pyle disease skos:closeMatch NANDO:2201367 Metaphyseal dysplasias semapv:MappingInversion +MONDO:0009948 pyropoikilocytosis, hereditary skos:closeMatch NANDO:2200631 Hereditary pyropoikilocytosis semapv:MappingInversion +MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch NANDO:2200519 Pyruvate carboxylase deficiency semapv:MappingInversion +MONDO:0009950 pyruvate kinase deficiency of red cells skos:closeMatch NANDO:2200628 Hemolytic anemia due to red cell pyruvate kinase deficiency semapv:MappingInversion +MONDO:0009955 rapadilino syndrome skos:closeMatch NANDO:1201058 RAPADILINO syndrome semapv:MappingInversion +MONDO:0009958 adult Refsum disease skos:closeMatch NANDO:1200769 Refsum disease semapv:MappingInversion +MONDO:0009958 adult Refsum disease skos:closeMatch NANDO:2200577 Refsum disease semapv:MappingInversion +MONDO:0009973 reticular dysgenesis skos:closeMatch NANDO:1200322 Reticular dysgenesis semapv:MappingInversion +MONDO:0009973 reticular dysgenesis skos:closeMatch NANDO:2200695 Reticular dysgenesis semapv:MappingInversion +MONDO:0010002 Rothmund-Thomson syndrome skos:closeMatch NANDO:1200671 Rothmund-Thomson syndrome semapv:MappingInversion +MONDO:0010006 Sandhoff disease skos:closeMatch NANDO:1200072 Sandhoff disease semapv:MappingInversion +MONDO:0010006 Sandhoff disease skos:closeMatch NANDO:2201200 Sandhoff disease semapv:MappingInversion +MONDO:0010011 schizencephaly skos:closeMatch NANDO:1201073 Schizencephaly semapv:MappingInversion +MONDO:0010011 schizencephaly skos:closeMatch NANDO:2200818 Schizencephaly semapv:MappingInversion +MONDO:0010012 autoimmune polyendocrinopathy type 2 skos:closeMatch NANDO:2200347 Autoimmune polyendocrinopathy type 2 semapv:MappingInversion +MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:closeMatch NANDO:1200327 Zap-70 deficiency semapv:MappingInversion +MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:closeMatch NANDO:2200700 ZAP-70 deficiency semapv:MappingInversion +MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch NANDO:1200147 Infantile free sialic acid storage disease semapv:MappingInversion +MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch NANDO:2201237 Infantile free sialic acid storage disease semapv:MappingInversion +MONDO:0010030 Sjogren syndrome skos:closeMatch NANDO:1200279 Sjogren's syndrome semapv:MappingInversion +MONDO:0010030 Sjogren syndrome skos:closeMatch NANDO:1200280 Primary Sjogren's syndrome semapv:MappingInversion +MONDO:0010030 Sjogren syndrome skos:closeMatch NANDO:2200420 Sjogren's syndrome semapv:MappingInversion +MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch NANDO:1200620 Sjögren-Larsson syndrome semapv:MappingInversion +MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch NANDO:2200994 Sjögren-Larsson syndrome semapv:MappingInversion +MONDO:0010035 Smith-Lemli-Opitz syndrome skos:closeMatch NANDO:1200961 Smith-lemli-opitz syndrome semapv:MappingInversion +MONDO:0010035 Smith-Lemli-Opitz syndrome skos:closeMatch NANDO:2200979 Smith-Lemli-Opitz syndrome semapv:MappingInversion +MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:closeMatch NANDO:2200320 IGF1 insensitivity semapv:MappingInversion +MONDO:0010056 spinal muscular atrophy, type IV skos:closeMatch NANDO:1200007 Spinal muscular atrophy type IV semapv:MappingInversion +MONDO:0010066 familial isolated congenital asplenia skos:closeMatch NANDO:2200775 Isolated congenital asplenia semapv:MappingInversion +MONDO:0010078 spondyloperipheral dysplasia skos:closeMatch NANDO:2201351 Spondyloperipheral dysplasia semapv:MappingInversion +MONDO:0010079 Canavan disease skos:closeMatch NANDO:1200948 Canavan disease semapv:MappingInversion +MONDO:0010079 Canavan disease skos:closeMatch NANDO:2200834 Canavan disease semapv:MappingInversion +MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:closeMatch NANDO:2200599 Succinic semialdehyde dehydrogenase deficiency semapv:MappingInversion +MONDO:0010088 mucosulfatidosis skos:closeMatch NANDO:1200083 Multiple sulfatase deficiency semapv:MappingInversion +MONDO:0010088 mucosulfatidosis skos:closeMatch NANDO:1200624 Multiple sulfatase deficiency semapv:MappingInversion +MONDO:0010088 mucosulfatidosis skos:closeMatch NANDO:2200566 Multiple sulfatase deficiency semapv:MappingInversion +MONDO:0010089 isolated sulfite oxidase deficiency skos:closeMatch NANDO:2200583 Sulfite oxidase deficiency semapv:MappingInversion +MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch NANDO:1200073 GM2 gangliosidosis AB variant semapv:MappingInversion +MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch NANDO:2201201 GM2 gangliosidosis AB variant semapv:MappingInversion +MONDO:0010100 Tay-Sachs disease skos:closeMatch NANDO:1200071 Tay-Sachs disease semapv:MappingInversion +MONDO:0010100 Tay-Sachs disease skos:closeMatch NANDO:2201199 Tay-Sachs disease semapv:MappingInversion +MONDO:0010119 obsolete Glanzmann's thrombasthenia skos:closeMatch NANDO:2200657 Thrombasthenia semapv:MappingInversion +MONDO:0010119 obsolete Glanzmann's thrombasthenia skos:closeMatch NANDO:2200664 ITGA2B/ITGB3 mutations semapv:MappingInversion +MONDO:0010121 thrombocytopenia-absent radius syndrome skos:closeMatch NANDO:2200661 Thrombocytopenia with absent radii semapv:MappingInversion +MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch NANDO:1200317 Congenital thrombotic thrombocytopenic purpura semapv:MappingInversion +MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:closeMatch NANDO:1200395 Resistance to thyroid hormone semapv:MappingInversion +MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:closeMatch NANDO:2100121 Resistance to thyroid hormone semapv:MappingInversion +MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:closeMatch NANDO:2200341 Resistance to thyroid hormone semapv:MappingInversion +MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch NANDO:1200622 Dorfman-Chanarin syndrome semapv:MappingInversion +MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch NANDO:1200623 Neutral lipid storage disease with ichthyosis semapv:MappingInversion +MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch NANDO:2200997 Dorfman-Chanarin syndrome semapv:MappingInversion +MONDO:0010160 tyrosinemia type II skos:closeMatch NANDO:1200789 Tyrosinemia type 2 semapv:MappingInversion +MONDO:0010160 tyrosinemia type II skos:closeMatch NANDO:2200469 Tyrosinemia type 2 semapv:MappingInversion +MONDO:0010161 tyrosinemia type I skos:closeMatch NANDO:1200788 Tyrosinemia type 1 semapv:MappingInversion +MONDO:0010161 tyrosinemia type I skos:closeMatch NANDO:2200468 Tyrosinemia type 1 semapv:MappingInversion +MONDO:0010162 tyrosinemia type III skos:closeMatch NANDO:1200790 Tyrosinemia type 3 semapv:MappingInversion +MONDO:0010162 tyrosinemia type III skos:closeMatch NANDO:2200470 Tyrosinemia type 3 semapv:MappingInversion +MONDO:0010168 Usher syndrome type 1 skos:closeMatch NANDO:1200942 Usher syndrome type I semapv:MappingInversion +MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:closeMatch NANDO:2201110 Methylmalonic acidemia and homocystinuria cblF type semapv:MappingInversion +MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch NANDO:1201040 Homocystinuria type 2 semapv:MappingInversion +MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch NANDO:2201107 Methylmalonic aciduria and homocystinuria, cblC type semapv:MappingInversion +MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch NANDO:1200797 Methylmalonic acidemia CblD type semapv:MappingInversion +MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch NANDO:2201108 Methylmalonic acidemia CblD type semapv:MappingInversion +MONDO:0010188 familial isolated deficiency of vitamin E skos:closeMatch NANDO:1200050 Ataxia with isolated vitamin E deficiency semapv:MappingInversion +MONDO:0010193 Weaver syndrome skos:closeMatch NANDO:1200659 Weaver syndrome semapv:MappingInversion +MONDO:0010193 Weaver syndrome skos:closeMatch NANDO:2200957 Weaver syndrome semapv:MappingInversion +MONDO:0010196 Werner syndrome skos:closeMatch NANDO:1200676 Werner syndrome semapv:MappingInversion +MONDO:0010196 Werner syndrome skos:closeMatch NANDO:2200831 Werner syndrome semapv:MappingInversion +MONDO:0010200 Wilson disease skos:closeMatch NANDO:1200655 Wilson disease semapv:MappingInversion +MONDO:0010200 Wilson disease skos:closeMatch NANDO:2200579 Wilson disease semapv:MappingInversion +MONDO:0010226 46,XY sex reversal 2 skos:closeMatch NANDO:1200404 DAX1 abnormality semapv:MappingInversion +MONDO:0010246 developmental and epileptic encephalopathy, 9 skos:closeMatch NANDO:1200599 PCDH19-related syndrome semapv:MappingInversion +MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch NANDO:1200166 Childhood cerebral adrenoleukodystrophy semapv:MappingInversion +MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch NANDO:2201246 Childhood cerebral adrenoleukodystrophy semapv:MappingInversion +MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch NANDO:1200403 Congenital adrenal hypoplasia semapv:MappingInversion +MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch NANDO:2200357 Congenital adrenal hypoplasia semapv:MappingInversion +MONDO:0010281 Danon disease skos:closeMatch NANDO:1200145 Danon disease semapv:MappingInversion +MONDO:0010281 Danon disease skos:closeMatch NANDO:1200222 Danon disease semapv:MappingInversion +MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:closeMatch NANDO:2200984 MECP2 duplication syndrome semapv:MappingInversion +MONDO:0010293 ectodermal dysplasia and immune deficiency skos:closeMatch NANDO:1200360 Anhidrotic ectodermal dysplasia with immunodeficiency semapv:MappingInversion +MONDO:0010293 ectodermal dysplasia and immune deficiency skos:closeMatch NANDO:2200761 Anhidrotic ectodermal dysplasia with immunodeficiency semapv:MappingInversion +MONDO:0010294 X-linked severe congenital neutropenia skos:closeMatch NANDO:2200753 X linked severe congenital neutropenia semapv:MappingInversion +MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch NANDO:2200586 Lesch-Nyhan syndrome semapv:MappingInversion +MONDO:0010305 creatine transporter deficiency skos:closeMatch NANDO:1201035 Creatine transporter deficiency semapv:MappingInversion +MONDO:0010305 creatine transporter deficiency skos:closeMatch NANDO:2201301 SLC6A8 deficiency semapv:MappingInversion +MONDO:0010311 Becker muscular dystrophy skos:closeMatch NANDO:1200489 Becker muscular dystrophy semapv:MappingInversion +MONDO:0010311 Becker muscular dystrophy skos:closeMatch NANDO:2200865 Becker muscular dystrophy semapv:MappingInversion +MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:closeMatch NANDO:1200321 X-linked severe combined immunodeficiency semapv:MappingInversion +MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:closeMatch NANDO:2200694 X-linked severe combined immunodeficiency semapv:MappingInversion +MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch NANDO:1200580 Allan-Herndon-Dudley syndrome semapv:MappingInversion +MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch NANDO:2201292 Allan-Herndon-Dudley syndrome semapv:MappingInversion +MONDO:0010362 glycogen storage disease IXd skos:closeMatch NANDO:1200830 Glycogen storage diseases type IXd semapv:MappingInversion +MONDO:0010362 glycogen storage disease IXd skos:closeMatch NANDO:2201167 Glycogen storage disease type IXd semapv:MappingInversion +MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:closeMatch NANDO:1200690 Fragile X syndrome related diseases semapv:MappingInversion +MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:closeMatch NANDO:1200691 Fragile X tremor/ataxia syndrome semapv:MappingInversion +MONDO:0010383 fragile X syndrome skos:closeMatch NANDO:1200692 Fragile X syndrome semapv:MappingInversion +MONDO:0010383 fragile X syndrome skos:closeMatch NANDO:2100224 Fragile X syndrome semapv:MappingInversion +MONDO:0010383 fragile X syndrome skos:closeMatch NANDO:2200840 Fragile X syndrome semapv:MappingInversion +MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch NANDO:2201279 gp91phox-deficient chronic granulomatous disease semapv:MappingInversion +MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:closeMatch NANDO:1200831 Phosphoglycerate kinase deficiency semapv:MappingInversion +MONDO:0010420 X-linked erythropoietic protoporphyria skos:closeMatch NANDO:1200818 X-linked dominant protoporphyria semapv:MappingInversion +MONDO:0010420 X-linked erythropoietic protoporphyria skos:closeMatch NANDO:2201269 X-linked dominant protoporphyria semapv:MappingInversion +MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch NANDO:1200343 X-linked agammaglobulinemia semapv:MappingInversion +MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch NANDO:2200716 X-linked agammaglobulinemia semapv:MappingInversion +MONDO:0010434 synovial sarcoma skos:closeMatch NANDO:2200061 Synovial sarcoma semapv:MappingInversion +MONDO:0010518 Wiskott-Aldrich syndrome skos:closeMatch NANDO:1200330 Wiskott-Aldrich syndrome semapv:MappingInversion +MONDO:0010518 Wiskott-Aldrich syndrome skos:closeMatch NANDO:2200704 Wiskott-Aldrich syndrome semapv:MappingInversion +MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch NANDO:1200665 ATR-X syndrome semapv:MappingInversion +MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch NANDO:2100223 ATR-X syndrome semapv:MappingInversion +MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch NANDO:2200839 ATR-X syndrome semapv:MappingInversion +MONDO:0010526 Fabry disease skos:closeMatch NANDO:1200157 Fabry disease semapv:MappingInversion +MONDO:0010526 Fabry disease skos:closeMatch NANDO:2200563 Fabry disease semapv:MappingInversion +MONDO:0010543 Barth syndrome skos:closeMatch NANDO:1200991 3-methylglutaconicaciduria type II semapv:MappingInversion +MONDO:0010543 Barth syndrome skos:closeMatch NANDO:2200751 Barth syndrome semapv:MappingInversion +MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:closeMatch NANDO:2201356 X-linked recessive brachytelephalangic chondrodysplasia punctata semapv:MappingInversion +MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:closeMatch NANDO:2201360 Brachytelephalangic chondrodysplasia punctata semapv:MappingInversion +MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch NANDO:1200660 Coffin-Lowry syndrome semapv:MappingInversion +MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch NANDO:2200952 Coffin-Lowry syndrome semapv:MappingInversion +MONDO:0010568 Aicardi syndrome skos:closeMatch NANDO:1200562 Aicardi syndrome semapv:MappingInversion +MONDO:0010572 occipital horn syndrome skos:closeMatch NANDO:1200654 Occipital horn syndrome semapv:MappingInversion +MONDO:0010572 occipital horn syndrome skos:closeMatch NANDO:2200581 Occipital horn syndrome semapv:MappingInversion +MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:closeMatch NANDO:2200924 IPEX syndrome semapv:MappingInversion +MONDO:0010598 glycogen storage disease IXa1 skos:closeMatch NANDO:1200847 Hepatic glycogen storage disease type IXa semapv:MappingInversion +MONDO:0010598 glycogen storage disease IXa1 skos:closeMatch NANDO:2201164 Glycogen storage disease type IXa semapv:MappingInversion +MONDO:0010602 hemophilia A skos:closeMatch NANDO:2200676 Hemophilia A semapv:MappingInversion +MONDO:0010604 hemophilia B skos:closeMatch NANDO:2200677 Hemophilia B semapv:MappingInversion +MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch NANDO:2200505 Glycerol kinase deficiency semapv:MappingInversion +MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:closeMatch NANDO:1200779 Vitamin D-resistant rickets semapv:MappingInversion +MONDO:0010621 CHILD syndrome skos:closeMatch NANDO:1200629 CHILD syndrome semapv:MappingInversion +MONDO:0010621 CHILD syndrome skos:closeMatch NANDO:2200998 CHILD syndrome semapv:MappingInversion +MONDO:0010621 CHILD syndrome skos:closeMatch NANDO:2201358 CHILD syndrome semapv:MappingInversion +MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch NANDO:1200625 Recessive X-linked ichtyosis semapv:MappingInversion +MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch NANDO:1200351 X-linked lymphoproliferative syndrome semapv:MappingInversion +MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch NANDO:2200725 X-linked lymphoproliferative syndrome semapv:MappingInversion +MONDO:0010631 incontinentia pigmenti skos:closeMatch NANDO:2200974 Incontinentia pigmenti semapv:MappingInversion +MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch NANDO:2100028 Lowe syndrome semapv:MappingInversion +MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch NANDO:2200188 Lowe syndrome semapv:MappingInversion +MONDO:0010651 Menkes disease skos:closeMatch NANDO:1200653 Menkes disease semapv:MappingInversion +MONDO:0010651 Menkes disease skos:closeMatch NANDO:2200580 Menkes disease semapv:MappingInversion +MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch NANDO:1200097 Hunter syndrome semapv:MappingInversion +MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch NANDO:2200548 Mucopolysaccharidosis type II semapv:MappingInversion +MONDO:0010679 Duchenne muscular dystrophy skos:closeMatch NANDO:1200488 Duchenne muscular dystrophy semapv:MappingInversion +MONDO:0010679 Duchenne muscular dystrophy skos:closeMatch NANDO:2200856 Duchenne muscular dystrophy semapv:MappingInversion +MONDO:0010684 X-linked myopathy with excessive autophagy skos:closeMatch NANDO:1200223 X-linked Myopathy with excessive autophagy semapv:MappingInversion +MONDO:0010703 ornithine carbamoyltransferase deficiency skos:closeMatch NANDO:1200804 Ornithine transcarbamylase deficiency semapv:MappingInversion +MONDO:0010703 ornithine carbamoyltransferase deficiency skos:closeMatch NANDO:2200479 Ornithine transcarbamylase deficiency semapv:MappingInversion +MONDO:0010713 properdin deficiency, X-linked skos:closeMatch NANDO:2200789 Properdin deficiency semapv:MappingInversion +MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch NANDO:1200576 Pelizaeus-Merzbacher disease semapv:MappingInversion +MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch NANDO:2201288 Pelizaeus-Merzbacher disease semapv:MappingInversion +MONDO:0010725 X-linked retinoschisis skos:closeMatch NANDO:1200938 X-linked juvenile retinoschisis semapv:MappingInversion +MONDO:0010726 Rett syndrome skos:closeMatch NANDO:1200603 Rett syndrome semapv:MappingInversion +MONDO:0010726 Rett syndrome skos:closeMatch NANDO:1200604 Typical Rett syndrome semapv:MappingInversion +MONDO:0010726 Rett syndrome skos:closeMatch NANDO:2100219 Rett syndrome semapv:MappingInversion +MONDO:0010726 Rett syndrome skos:closeMatch NANDO:2200825 Rett syndrome semapv:MappingInversion +MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:closeMatch NANDO:2200978 Simpson-Golabi-Behmel syndrome semapv:MappingInversion +MONDO:0010735 Kennedy disease skos:closeMatch NANDO:1200001 Spinal and bulbar muscular atrophy semapv:MappingInversion +MONDO:0010747 X-linked dystonia-parkinsonism skos:closeMatch NANDO:1200514 Dystonia 3 semapv:MappingInversion +MONDO:0010778 cyclic vomiting syndrome skos:closeMatch NANDO:2100258 Cyclic vomiting syndrome semapv:MappingInversion +MONDO:0010778 cyclic vomiting syndrome skos:closeMatch NANDO:2200919 Cyclic vomiting syndrome semapv:MappingInversion +MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch NANDO:1201064 Kearns-Sayre syndrome semapv:MappingInversion +MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch NANDO:2200529 Kearns-Sayre syndrome semapv:MappingInversion +MONDO:0010788 Leber hereditary optic neuropathy skos:closeMatch NANDO:1200178 Leber hereditary optic neuropathy semapv:MappingInversion +MONDO:0010788 Leber hereditary optic neuropathy skos:closeMatch NANDO:1200940 Leber hereditary optic neuropathy semapv:MappingInversion +MONDO:0010789 MELAS syndrome skos:closeMatch NANDO:1200176 Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome semapv:MappingInversion +MONDO:0010789 MELAS syndrome skos:closeMatch NANDO:2200525 Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) semapv:MappingInversion +MONDO:0010790 MERRF syndrome skos:closeMatch NANDO:1200177 Myoclonus epilepsy associated with ragged-red fibers semapv:MappingInversion +MONDO:0010790 MERRF syndrome skos:closeMatch NANDO:2200526 Myoclonus epilepsy associated with ragged-red fibers semapv:MappingInversion +MONDO:0010808 fatal familial insomnia skos:closeMatch NANDO:1200191 Fatal familial insomnia semapv:MappingInversion +MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 skos:closeMatch NANDO:1200772 Rhizomelic chondrodysplasia punctata type 3 semapv:MappingInversion +MONDO:0010829 CARASIL syndrome skos:closeMatch NANDO:1200544 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy semapv:MappingInversion +MONDO:0010857 semantic dementia skos:closeMatch NANDO:1200550 Semantic dementia semapv:MappingInversion +MONDO:0010894 maturity-onset diabetes of the young type 3 skos:closeMatch NANDO:2201071 Maturity-onset diabetes of the young type 3 semapv:MappingInversion +MONDO:0010911 prolactin-producing pituitary gland adenoma skos:closeMatch NANDO:1200378 Diencephalo-hypophysial insufficiency-inappropriate prolactin syndrome semapv:MappingInversion +MONDO:0010913 Caroli disease skos:closeMatch NANDO:2200934 Caroli disease semapv:MappingInversion +MONDO:0010931 vitamin D-dependent rickets, type 2B skos:closeMatch NANDO:1200779 Vitamin D-resistant rickets semapv:MappingInversion +MONDO:0010940 inherited susceptibility to asthma skos:closeMatch NANDO:2100031 Bronchial asthma semapv:MappingInversion +MONDO:0010940 inherited susceptibility to asthma skos:closeMatch NANDO:2200197 Bronchial asthma semapv:MappingInversion +MONDO:0010947 Budd-Chiari syndrome skos:closeMatch NANDO:1200437 Budd-Chiari syndrome semapv:MappingInversion +MONDO:0010983 dystonia 9 skos:closeMatch NANDO:1200520 Dystonia 9 semapv:MappingInversion +MONDO:0011014 pleuropulmonary blastoma skos:closeMatch NANDO:2200080 Pleuropulmonaryblastoma semapv:MappingInversion +MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:closeMatch NANDO:1200526 Cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss semapv:MappingInversion +MONDO:0011093 mucopolysaccharidosis type 9 skos:closeMatch NANDO:1200115 Hyaluronidase deficiency semapv:MappingInversion +MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch NANDO:1200652 Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome semapv:MappingInversion +MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch NANDO:2201262 Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome semapv:MappingInversion +MONDO:0011147 chromosome 18q deletion syndrome skos:closeMatch NANDO:1200579 18q-syndrome semapv:MappingInversion +MONDO:0011147 chromosome 18q deletion syndrome skos:closeMatch NANDO:2201291 18q-syndrome semapv:MappingInversion +MONDO:0011156 progressive familial intrahepatic cholestasis type 2 skos:closeMatch NANDO:1201044 Progressive familial intrahepatic cholestasis type 2 semapv:MappingInversion +MONDO:0011200 torsion dystonia 7 skos:closeMatch NANDO:1200518 Dystonia 7 semapv:MappingInversion +MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch NANDO:1201045 Progressive familial intrahepatic cholestasis type 3 semapv:MappingInversion +MONDO:0011230 ossification of the posterior longitudinal ligament of the spine skos:closeMatch NANDO:1200371 Ossification of posterior longitudinal ligament semapv:MappingInversion +MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome skos:closeMatch NANDO:2200823 Megalencephaly-capillary malformation syndrome semapv:MappingInversion +MONDO:0011264 torsion dystonia 6 skos:closeMatch NANDO:1200517 Dystonia 6 semapv:MappingInversion +MONDO:0011269 psoriasis 2 skos:closeMatch NANDO:2200443 CARD14 deficiency semapv:MappingInversion +MONDO:0011273 H syndrome skos:closeMatch NANDO:2200457 SLC29A3 deficiency semapv:MappingInversion +MONDO:0011281 congenital myasthenic syndrome 5 skos:closeMatch NANDO:1201056 End-plate acetylcholine esterase deficiency semapv:MappingInversion +MONDO:0011301 pseudohypoparathyroidism type 1B skos:closeMatch NANDO:1201076 Pseudohypoparathyroidism type 1B semapv:MappingInversion +MONDO:0011326 citrullinemia, type II, adult-onset skos:closeMatch NANDO:1200980 Adult-onset type II citrullinemia semapv:MappingInversion +MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 skos:closeMatch NANDO:2200730 Syntaxin 11 deficiency semapv:MappingInversion +MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 skos:closeMatch NANDO:2200728 Perforin deficiency semapv:MappingInversion +MONDO:0011338 Omenn syndrome skos:closeMatch NANDO:1200324 Omenn syndrome semapv:MappingInversion +MONDO:0011338 Omenn syndrome skos:closeMatch NANDO:2200697 Omenn syndrome semapv:MappingInversion +MONDO:0011340 congenital tracheal stenosis skos:closeMatch NANDO:1201003 Congenital tracheal stenosis semapv:MappingInversion +MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type skos:closeMatch NANDO:1200681 Young-Simpson syndrome semapv:MappingInversion +MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type skos:closeMatch NANDO:2200982 Young-Simpson syndrome semapv:MappingInversion +MONDO:0011380 obsolete leukoencephalopathy with vanishing white matter skos:closeMatch NANDO:1200951 Vanishing white matter disease semapv:MappingInversion +MONDO:0011380 obsolete leukoencephalopathy with vanishing white matter skos:closeMatch NANDO:2200838 Vanishing white matter disease semapv:MappingInversion +MONDO:0011382 sickle cell anemia skos:closeMatch NANDO:2200624 Sickle cell disease semapv:MappingInversion +MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:closeMatch NANDO:1200950 Megaloencephalic leukoencephalopathy with subcortical cysts semapv:MappingInversion +MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:closeMatch NANDO:2200837 Megaloencephalic leukoencephalopathy with subcortical cysts semapv:MappingInversion +MONDO:0011399 alpha thalassemia skos:closeMatch NANDO:2201273 α-thalassemia semapv:MappingInversion +MONDO:0011405 poikiloderma with neutropenia skos:closeMatch NANDO:2200749 Clericuzio-type poikiloderma with neutropenia syndrome semapv:MappingInversion +MONDO:0011426 aceruloplasminemia skos:closeMatch NANDO:1200540 Neurodegeneration with brain iron accumulation type 4 semapv:MappingInversion +MONDO:0011426 aceruloplasminemia skos:closeMatch NANDO:2200582 Aceruloplasminemia semapv:MappingInversion +MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch NANDO:1200469 Juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch NANDO:2200415 Juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0011449 Salla disease skos:closeMatch NANDO:1200149 Salla disease semapv:MappingInversion +MONDO:0011449 Salla disease skos:closeMatch NANDO:1200582 Salla disease semapv:MappingInversion +MONDO:0011449 Salla disease skos:closeMatch NANDO:2201294 Salla disease semapv:MappingInversion +MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:closeMatch NANDO:1200868 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome semapv:MappingInversion +MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:closeMatch NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome semapv:MappingInversion +MONDO:0011469 congenital amegakaryocytic thrombocytopenia skos:closeMatch NANDO:2200651 Congenital amegakaryocytic thrombocytopenia semapv:MappingInversion +MONDO:0011476 MHC class I deficiency skos:closeMatch NANDO:1200328 MHC class I deficiency semapv:MappingInversion +MONDO:0011476 MHC class I deficiency skos:closeMatch NANDO:2200701 MHC class I deficiency semapv:MappingInversion +MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis skos:closeMatch NANDO:2201352 Mild spondyloepiphyseal dysplasia with premature-onset arthrosis semapv:MappingInversion +MONDO:0011514 tricuspid atresia skos:closeMatch NANDO:1200706 Tricuspid atresia semapv:MappingInversion +MONDO:0011514 tricuspid atresia skos:closeMatch NANDO:1200962 Congenital tricuspid stenosis semapv:MappingInversion +MONDO:0011514 tricuspid atresia skos:closeMatch NANDO:2100073 Tricuspid atresia semapv:MappingInversion +MONDO:0011514 tricuspid atresia skos:closeMatch NANDO:2200251 Tricuspid atresia semapv:MappingInversion +MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome skos:closeMatch NANDO:2200660 Congenital thrombocytopenia with radio-ulnar synostosis semapv:MappingInversion +MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency skos:closeMatch NANDO:1200979 Neonatal intrahepatic cholestasis caused by citrin deficiency semapv:MappingInversion +MONDO:0011603 GNE myopathy skos:closeMatch NANDO:1200218 Distal myopathy with rimmed vacuoles semapv:MappingInversion +MONDO:0011612 glycine encephalopathy skos:closeMatch NANDO:1200984 Nonketotic hyperglycinemia semapv:MappingInversion +MONDO:0011612 glycine encephalopathy skos:closeMatch NANDO:2200476 Nonketotic hyperglycinemia semapv:MappingInversion +MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:closeMatch NANDO:2200498 3-hydroxy-3-methylglutaryl-CoA synthase deficiency semapv:MappingInversion +MONDO:0011628 propionic acidemia skos:closeMatch NANDO:1200792 Propionic acidemia semapv:MappingInversion +MONDO:0011628 propionic acidemia skos:closeMatch NANDO:2200492 Propionic acidemia semapv:MappingInversion +MONDO:0011638 neuroferritinopathy skos:closeMatch NANDO:1200539 Neurodegeneration with brain iron accumulation type 3 semapv:MappingInversion +MONDO:0011638 neuroferritinopathy skos:closeMatch NANDO:1200542 Neuroferritinopathy semapv:MappingInversion +MONDO:0011655 alveolar soft part sarcoma skos:closeMatch NANDO:2200063 Alveolar soft part sarcoma semapv:MappingInversion +MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch NANDO:2200736 Immunodeficiency 41 with lymphoproliferation and autoimmunity semapv:MappingInversion +MONDO:0011667 maturity-onset diabetes of the young type 4 skos:closeMatch NANDO:2201072 Maturity-onset diabetes of the young type 4 semapv:MappingInversion +MONDO:0011705 lymphangioleiomyomatosis skos:closeMatch NANDO:1200430 Lymphangioleiomyomatosis semapv:MappingInversion +MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch NANDO:1200799 Glucose transporter 1 deficiency semapv:MappingInversion +MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch NANDO:2200545 Glucose transporter 1 deficiency semapv:MappingInversion +MONDO:0011730 fumaric aciduria skos:closeMatch NANDO:2200520 Fumarase deficiency semapv:MappingInversion +MONDO:0011731 glucose-galactose malabsorption skos:closeMatch NANDO:2200909 Glucose-galactose malabsorption semapv:MappingInversion +MONDO:0011758 Hurler syndrome skos:closeMatch NANDO:1200094 Hurler syndrome semapv:MappingInversion +MONDO:0011758 Hurler syndrome skos:closeMatch NANDO:2201168 Hurler Disease semapv:MappingInversion +MONDO:0011759 Hurler-Scheie syndrome skos:closeMatch NANDO:1200096 Hurler-Scheie syndrome semapv:MappingInversion +MONDO:0011759 Hurler-Scheie syndrome skos:closeMatch NANDO:2201170 Hurler-Scheie disease semapv:MappingInversion +MONDO:0011760 Scheie syndrome skos:closeMatch NANDO:1200095 Scheie syndrome semapv:MappingInversion +MONDO:0011760 Scheie syndrome skos:closeMatch NANDO:2201169 Scheie disease semapv:MappingInversion +MONDO:0011776 CINCA syndrome skos:closeMatch NANDO:1200468 Chronic infantile neurological cutaneous articular syndrome semapv:MappingInversion +MONDO:0011776 CINCA syndrome skos:closeMatch NANDO:2201066 Chronic infantile neurological cutaneous articular syndrome semapv:MappingInversion +MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B skos:closeMatch NANDO:2200740 Caspase-8 deficiency semapv:MappingInversion +MONDO:0011826 glucocorticoid deficiency 2 skos:closeMatch NANDO:1200409 MRAP deficiency semapv:MappingInversion +MONDO:0011827 patent ductus arteriosus skos:closeMatch NANDO:2100084 Patent ductus arteriosus semapv:MappingInversion +MONDO:0011827 patent ductus arteriosus skos:closeMatch NANDO:2200264 Patent ductus arteriosus semapv:MappingInversion +MONDO:0011844 myoclonic dystonia 15 skos:closeMatch NANDO:1200528 Dystonia 15 semapv:MappingInversion +MONDO:0011849 psoriatic arthritis skos:closeMatch NANDO:2201059 Psoriatic juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0011871 Niemann-Pick disease type B skos:closeMatch NANDO:1200062 Niemann-Pick disease type B semapv:MappingInversion +MONDO:0011871 Niemann-Pick disease type B skos:closeMatch NANDO:2201207 Niemann-Pick disease type B semapv:MappingInversion +MONDO:0011872 Griscelli syndrome type 2 skos:closeMatch NANDO:2200732 Griscelli syndrome type 2 semapv:MappingInversion +MONDO:0011886 torsion dystonia 13 skos:closeMatch NANDO:1200527 Dystonia 13 semapv:MappingInversion +MONDO:0011888 immunodeficiency 67 skos:closeMatch NANDO:1200361 IRAK4 deficiency semapv:MappingInversion +MONDO:0011888 immunodeficiency 67 skos:closeMatch NANDO:2200762 IRAK4 deficiency semapv:MappingInversion +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch NANDO:1200585 Ataxia, delayed dentition, and hypomyelination syndrome semapv:MappingInversion +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch NANDO:2201297 Ataxia, delayed dentition, and hypomyelination syndrome semapv:MappingInversion +MONDO:0011908 juvenile myelomonocytic leukemia skos:closeMatch NANDO:2200014 Chronic myelomonocytic leukemia semapv:MappingInversion +MONDO:0011908 juvenile myelomonocytic leukemia skos:closeMatch NANDO:2200015 Juvenile myelomonocytic leukemia semapv:MappingInversion +MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:closeMatch NANDO:2200861 Merosin-deficient congenital muscular dystrophy semapv:MappingInversion +MONDO:0011929 chromosome 1p36 deletion syndrome skos:closeMatch NANDO:1200682 1p36 deletion syndrome semapv:MappingInversion +MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation skos:closeMatch NANDO:2200744 Spondylo enchondro-dysplasiawith immune dysregulation semapv:MappingInversion +MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch NANDO:1200685 Paternal uniparental disomy of chromosome 14 semapv:MappingInversion +MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:closeMatch NANDO:2200013 Chronic myeloid leukemia semapv:MappingInversion +MONDO:0011997 Hermansky-Pudlak syndrome 2 skos:closeMatch NANDO:2200733 Hermansky-Pudlak syndrome type 2 semapv:MappingInversion +MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:closeMatch NANDO:1200988 Aromatic L-amino acid decarboxylase deficiency semapv:MappingInversion +MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:closeMatch NANDO:2200596 Aromatic L-amino acid decarboxylase deficiency semapv:MappingInversion +MONDO:0012104 acquired partial lipodystrophy skos:closeMatch NANDO:1200862 Acquired partial lipodystrophy semapv:MappingInversion +MONDO:0012105 granulomatosis with polyangiitis skos:closeMatch NANDO:1200263 Granulomatosis with polyangiitis semapv:MappingInversion +MONDO:0012105 granulomatosis with polyangiitis skos:closeMatch NANDO:1201009 Systemic granulomatosis with polyangiitis semapv:MappingInversion +MONDO:0012105 granulomatosis with polyangiitis skos:closeMatch NANDO:2200424 Granulomatosis with polyangiitis semapv:MappingInversion +MONDO:0012126 familial avascular necrosis of femoral head skos:closeMatch NANDO:1200373 Idiopathic osteonecrosis of femoral head semapv:MappingInversion +MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch NANDO:2201132 Neonatal-onset carnitine palmitoyltransferase II deficiency semapv:MappingInversion +MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 skos:closeMatch NANDO:2200729 UNC13D/Munc13-4 deficiency semapv:MappingInversion +MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:closeMatch NANDO:1200326 CD8 deficiency semapv:MappingInversion +MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:closeMatch NANDO:2200699 CD8 deficiency semapv:MappingInversion +MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch NANDO:1200974 Trifunctional protein deficiency semapv:MappingInversion +MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch NANDO:2200515 Trifunctional protein deficiency semapv:MappingInversion +MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch NANDO:2201147 Presymptomatic trifunctional protein deficiency semapv:MappingInversion +MONDO:0012176 Emanuel syndrome skos:closeMatch NANDO:1200689 Emanuel syndrome semapv:MappingInversion +MONDO:0012184 Pierson syndrome skos:closeMatch NANDO:2200117 Pierson syndrome semapv:MappingInversion +MONDO:0012197 idiopathic aplastic anemia skos:closeMatch NANDO:1200296 Idiopathic aplastic anemia semapv:MappingInversion +MONDO:0012197 idiopathic aplastic anemia skos:closeMatch NANDO:2201276 Idiopathic aplastic anemia semapv:MappingInversion +MONDO:0012198 PCWH syndrome skos:closeMatch NANDO:1200586 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease semapv:MappingInversion +MONDO:0012198 PCWH syndrome skos:closeMatch NANDO:2201298 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease semapv:MappingInversion +MONDO:0012206 Czech dysplasia, metatarsal type skos:closeMatch NANDO:2201353 Spondyloepiphyseal dysplasia with metatarsal shortening semapv:MappingInversion +MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:closeMatch NANDO:1200135 Schindler disease type I semapv:MappingInversion +MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch NANDO:1200136 Schindler disease type 2 semapv:MappingInversion +MONDO:0012268 AIDS skos:closeMatch NANDO:2100212 Acquired immune deficiency syndrome semapv:MappingInversion +MONDO:0012268 AIDS skos:closeMatch NANDO:2200809 Acquired immune deficiency syndrome semapv:MappingInversion +MONDO:0012295 complement component 5 deficiency skos:closeMatch NANDO:2200783 C5 deficiency semapv:MappingInversion +MONDO:0012316 Majeed syndrome skos:closeMatch NANDO:2200453 Majeed syndrome semapv:MappingInversion +MONDO:0012350 complement factor H deficiency skos:closeMatch NANDO:2200791 Factor H deficiency semapv:MappingInversion +MONDO:0012354 platelet-type bleeding disorder 8 skos:closeMatch NANDO:2200669 ADP receptor deficiencies semapv:MappingInversion +MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch NANDO:2200771 MCM4 mutation semapv:MappingInversion +MONDO:0012412 complement component 7 deficiency skos:closeMatch NANDO:2200785 C7 deficiency semapv:MappingInversion +MONDO:0012429 Aicardi-Goutieres syndrome 2 skos:closeMatch NANDO:2200894 Aicardi-Goutieres syndrome 2 semapv:MappingInversion +MONDO:0012444 neurodegeneration with brain iron accumulation 2B skos:closeMatch NANDO:1200538 Neurodegeneration with brain iron accumulation type 2B semapv:MappingInversion +MONDO:0012455 Kleefstra syndrome skos:closeMatch NANDO:1200959 9q34 deletion syndrome semapv:MappingInversion +MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:closeMatch NANDO:1200983 Inherited glycosylphosphatidylinositol deficiency semapv:MappingInversion +MONDO:0012471 Aicardi-Goutieres syndrome 3 skos:closeMatch NANDO:2200895 Aicardi-Goutieres syndrome 3 semapv:MappingInversion +MONDO:0012481 mevalonic aciduria skos:closeMatch NANDO:1200866 Hyper IgD syndrome semapv:MappingInversion +MONDO:0012514 hypomyelinating leukodystrophy 5 skos:closeMatch NANDO:1200584 Hypomyelination and congenital cataract semapv:MappingInversion +MONDO:0012514 hypomyelinating leukodystrophy 5 skos:closeMatch NANDO:2201296 Hypomyelination and congenital cataract semapv:MappingInversion +MONDO:0012521 herpes simplex encephalitis skos:closeMatch NANDO:2200772 Herpes simplex encephalitis semapv:MappingInversion +MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency skos:closeMatch NANDO:2200752 P14 deficiency semapv:MappingInversion +MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:closeMatch NANDO:1200747 Autoimmune pulmonary alveolar proteinosis semapv:MappingInversion +MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:closeMatch NANDO:1200748 Idiopathic pulmonary alveolar proteinosis semapv:MappingInversion +MONDO:0012580 hereditary pulmonary alveolar proteinosis skos:closeMatch NANDO:1200746 Pulmonary alveolar proteinosis semapv:MappingInversion +MONDO:0012580 hereditary pulmonary alveolar proteinosis skos:closeMatch NANDO:1200750 Congenital alveolar proteinosis semapv:MappingInversion +MONDO:0012580 hereditary pulmonary alveolar proteinosis skos:closeMatch NANDO:2200200 Congenital alveolar proteinosis semapv:MappingInversion +MONDO:0012584 systemic lupus erythematosus, susceptibility to, 9 skos:closeMatch NANDO:2200801 CD21 deficiency semapv:MappingInversion +MONDO:0012594 complement factor I deficiency skos:closeMatch NANDO:2200790 Factor I deficiency semapv:MappingInversion +MONDO:0012594 complement factor I deficiency skos:closeMatch NANDO:2200798 Factor I deficiency semapv:MappingInversion +MONDO:0012603 episodic kinesigenic dyskinesia 2 skos:closeMatch NANDO:1200532 Dystonia 19 semapv:MappingInversion +MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 skos:closeMatch NANDO:1200533 Dystonia 20 semapv:MappingInversion +MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch NANDO:2201152 Glycogen storage disease type 0b semapv:MappingInversion +MONDO:0012724 familial cold autoinflammatory syndrome 2 skos:closeMatch NANDO:2200449 NLRP12-associated periodic syndrome semapv:MappingInversion +MONDO:0012724 familial cold autoinflammatory syndrome 2 skos:closeMatch NANDO:2200454 NLRP12-associated periodic syndrome semapv:MappingInversion +MONDO:0012725 lipoprotein glomerulopathy skos:closeMatch NANDO:2200134 Lipoprotein glomerulopathy semapv:MappingInversion +MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch NANDO:1200834 Glycogen storage diseases type XII semapv:MappingInversion +MONDO:0012764 RIDDLE syndrome skos:closeMatch NANDO:1200336 RIDDLE syndrome semapv:MappingInversion +MONDO:0012764 RIDDLE syndrome skos:closeMatch NANDO:2200710 RIDDLE syndrome semapv:MappingInversion +MONDO:0012789 dystonia 16 skos:closeMatch NANDO:1200529 Dystonia 16 semapv:MappingInversion +MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch NANDO:1200531 Dystonia 18 semapv:MappingInversion +MONDO:0012817 Ewing sarcoma skos:closeMatch NANDO:2200053 Ewing's sarcoma semapv:MappingInversion +MONDO:0012824 hypomyelinating leukodystrophy 4 skos:closeMatch NANDO:1200581 Mitochondrial Hsp60 chaperonopathy semapv:MappingInversion +MONDO:0012824 hypomyelinating leukodystrophy 4 skos:closeMatch NANDO:2201293 Mitochondrial Hsp60 chaperonopathy semapv:MappingInversion +MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency skos:closeMatch NANDO:1200362 MyD88 deficiency semapv:MappingInversion +MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency skos:closeMatch NANDO:2200763 MyD88 deficiency semapv:MappingInversion +MONDO:0012858 primary CD59 deficiency skos:closeMatch NANDO:2200804 Primary CD59 deficiency semapv:MappingInversion +MONDO:0012866 hereditary spastic paraplegia 35 skos:closeMatch NANDO:1200541 Fatty acid hydroxylase-associated neurodegeneration semapv:MappingInversion +MONDO:0012883 acute promyelocytic leukemia skos:closeMatch NANDO:2200007 Acute promyelocytic leukemia semapv:MappingInversion +MONDO:0012895 torsion dystonia 17 skos:closeMatch NANDO:1200530 Dystonia 17 semapv:MappingInversion +MONDO:0012901 inherited prekallikrein deficiency skos:closeMatch NANDO:2200684 Congenital prekallikrein deficiency semapv:MappingInversion +MONDO:0012905 hypomyelinating leukodystrophy 6 skos:closeMatch NANDO:1200578 Hypomyelination with atrophy of the basal ganglia and cerebellum semapv:MappingInversion +MONDO:0012905 hypomyelinating leukodystrophy 6 skos:closeMatch NANDO:2201290 Hypomyelination with atrophy of the basal ganglia and cerebellum semapv:MappingInversion +MONDO:0012908 complement component 6 deficiency skos:closeMatch NANDO:2200784 C6 deficiency semapv:MappingInversion +MONDO:0012911 pseudohypoparathyroidism type 1C skos:closeMatch NANDO:1201077 Pseudohypoparathyroidism type 1C semapv:MappingInversion +MONDO:0012912 pseudopseudohypoparathyroidism skos:closeMatch NANDO:2200348 Pseudopseudohypoparathyroidism semapv:MappingInversion +MONDO:0012941 inflammatory bowel disease 25 skos:closeMatch NANDO:2200448 IL-10RB deficiency semapv:MappingInversion +MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency skos:closeMatch NANDO:1200982 Sepiapterin reductase deficiency semapv:MappingInversion +MONDO:0012996 AGAT deficiency skos:closeMatch NANDO:1201033 Arginine:glycine amidinotransferase deficiency semapv:MappingInversion +MONDO:0012996 AGAT deficiency skos:closeMatch NANDO:2201299 AGAT deficiency semapv:MappingInversion +MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:closeMatch NANDO:1201034 Guanidinoacetate methyltransferase deficiency semapv:MappingInversion +MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:closeMatch NANDO:2201300 GAMT deficiency semapv:MappingInversion +MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis skos:closeMatch NANDO:2200439 Deficiency of the interleukin-1-receptor antagonist semapv:MappingInversion +MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:closeMatch NANDO:1200429 Chronic thromboembolic pulmonary hypertension semapv:MappingInversion +MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly skos:closeMatch NANDO:2200803 CD46 deficiency semapv:MappingInversion +MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:closeMatch NANDO:1200835 Glycogen storage diseases type XIII semapv:MappingInversion +MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:closeMatch NANDO:1200833 Glycogen storage diseases type XI semapv:MappingInversion +MONDO:0013059 Aicardi-Goutieres syndrome 5 skos:closeMatch NANDO:2200897 Aicardi-Goutieres syndrome 5 semapv:MappingInversion +MONDO:0013066 46,XY sex reversal 3 skos:closeMatch NANDO:1200405 SF-1 abnormality semapv:MappingInversion +MONDO:0013081 lymphoproliferative syndrome 1 skos:closeMatch NANDO:2200734 IL-2-inducible T-cell kinase deficiency semapv:MappingInversion +MONDO:0013091 glycogen storage disease IXc skos:closeMatch NANDO:1200849 Hepatic glycogen storage disease type IXc semapv:MappingInversion +MONDO:0013091 glycogen storage disease IXc skos:closeMatch NANDO:2201166 Glycogen storage disease type IXc semapv:MappingInversion +MONDO:0013135 familial hemophagocytic lymphohistiocytosis 5 skos:closeMatch NANDO:2200731 STXBP2/Munc18-2 deficiency semapv:MappingInversion +MONDO:0013141 obsolete autosomal dominant macrothrombocytopenia TUBB1-related skos:closeMatch NANDO:2200667 β-1 tubulin disorders semapv:MappingInversion +MONDO:0013153 inflammatory bowel disease 28 skos:closeMatch NANDO:2200447 IL-10RA deficiency semapv:MappingInversion +MONDO:0013166 GABA aminotransaminase deficiency skos:closeMatch NANDO:2200598 Gamma-amino butyrate aminotransferase deficiency semapv:MappingInversion +MONDO:0013171 purine nucleoside phosphorylase deficiency skos:closeMatch NANDO:1200325 Purine nucleoside phosphorylase deficiency semapv:MappingInversion +MONDO:0013171 purine nucleoside phosphorylase deficiency skos:closeMatch NANDO:2200698 Purine nucleoside phosphorylase deficiency semapv:MappingInversion +MONDO:0013178 congenital muscular dystrophy due to LMNA mutation skos:closeMatch NANDO:2200866 LMNA-related congenital muscular dystrophy semapv:MappingInversion +MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency skos:closeMatch NANDO:2200688 Congenital plasminogen activator inhibitor-1 deficiency semapv:MappingInversion +MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency skos:closeMatch NANDO:2200739 Syndromic multisystem autoimmune disease due to Itch deficiency semapv:MappingInversion +MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch NANDO:1200755 Alpha-1-antitrypsin deficiency semapv:MappingInversion +MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch NANDO:2100174 Alpha-1-antitrypsin deficiency semapv:MappingInversion +MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch NANDO:2200611 Alpha-1-antitrypsin deficiency semapv:MappingInversion +MONDO:0013291 glycogen storage disease XV skos:closeMatch NANDO:1200837 Glycogen storage diseases type XV semapv:MappingInversion +MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:closeMatch NANDO:1200402 P450 oxidoreductase deficiency semapv:MappingInversion +MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:closeMatch NANDO:2200375 P450 oxidoreductase deficiency semapv:MappingInversion +MONDO:0013316 occult macular dystrophy skos:closeMatch NANDO:1200934 Occult macular dystrophy semapv:MappingInversion +MONDO:0013343 C1Q deficiency skos:closeMatch NANDO:2200777 C1q deficiency semapv:MappingInversion +MONDO:0013361 congenital prothrombin deficiency skos:closeMatch NANDO:2200673 Hypoprothrombinemia semapv:MappingInversion +MONDO:0013391 sterol carrier protein 2 deficiency skos:closeMatch NANDO:1200767 Sterol carrier protein 2 deficiency semapv:MappingInversion +MONDO:0013408 FADD-related immunodeficiency skos:closeMatch NANDO:2200741 Fas-associated death domain protein deficiency semapv:MappingInversion +MONDO:0013417 complement component 3 deficiency skos:closeMatch NANDO:2200782 C3 deficiency semapv:MappingInversion +MONDO:0013419 complement component C1s deficiency skos:closeMatch NANDO:2200779 C1s deficiency semapv:MappingInversion +MONDO:0013423 immunodeficiency due to MASP-2 deficiency skos:closeMatch NANDO:2200793 MASP2 deficiency semapv:MappingInversion +MONDO:0013433 primary sclerosing cholangitis skos:closeMatch NANDO:1200440 Primary sclerosing cholangitis semapv:MappingInversion +MONDO:0013433 primary sclerosing cholangitis skos:closeMatch NANDO:2100265 Primary sclerosing cholangitis semapv:MappingInversion +MONDO:0013445 complement component 9 deficiency skos:closeMatch NANDO:2200787 C9 deficiency semapv:MappingInversion +MONDO:0013467 immunodeficiency due to ficolin3 deficiency skos:closeMatch NANDO:2200794 Ficolin 3 Deficiency semapv:MappingInversion +MONDO:0013487 recurrent Neisseria infections due to factor D deficiency skos:closeMatch NANDO:2200788 Factor D deficiency semapv:MappingInversion +MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 skos:closeMatch NANDO:2201283 p40phox-deficient chronic granulomatous disease semapv:MappingInversion +MONDO:0013571 acatalasia skos:closeMatch NANDO:1200774 Acatalasemia semapv:MappingInversion +MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency skos:closeMatch NANDO:2200719 Isolated IgG subclass deficiency semapv:MappingInversion +MONDO:0013594 spinocerebellar ataxia type 36 skos:closeMatch NANDO:1200048 Spinocerebellar ataxia type 36 semapv:MappingInversion +MONDO:0013623 platelet-type bleeding disorder 11 skos:closeMatch NANDO:2200670 Abnormalities in platelet collagen receptors semapv:MappingInversion +MONDO:0013626 psoriasis 14, pustular skos:closeMatch NANDO:1200244 Acrodermatitis continua of Hallopeau semapv:MappingInversion +MONDO:0013626 psoriasis 14, pustular skos:closeMatch NANDO:2200452 IL36RN deficiency semapv:MappingInversion +MONDO:0013674 neurodegeneration with brain iron accumulation 4 skos:closeMatch NANDO:1200540 Neurodegeneration with brain iron accumulation type 4 semapv:MappingInversion +MONDO:0013681 alpha-methylacyl-CoA racemase deficiency skos:closeMatch NANDO:1200768 Alpha-methylacyl-CoA racemase deficiency semapv:MappingInversion +MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch NANDO:2200912 Lipase deficiency semapv:MappingInversion +MONDO:0013766 familial cold autoinflammatory syndrome 3 skos:closeMatch NANDO:2200455 PLCG2-associated antibody deficiency and immune dysregulation semapv:MappingInversion +MONDO:0013851 autosomal dominant aplasia and myelodysplasia skos:closeMatch NANDO:1200301 Borderline between aplastic anemia and MDS semapv:MappingInversion +MONDO:0013862 immunodeficiency, common variable, 7 skos:closeMatch NANDO:2200801 CD21 deficiency semapv:MappingInversion +MONDO:0013869 adenine phosphoribosyltransferase deficiency skos:closeMatch NANDO:2200587 Adenine phosphoribosyltransferase deficiency semapv:MappingInversion +MONDO:0013873 IMAGe syndrome skos:closeMatch NANDO:1200406 IMAge syndrome semapv:MappingInversion +MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation skos:closeMatch NANDO:2200442 Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation semapv:MappingInversion +MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation skos:closeMatch NANDO:2200451 PLCg2 deficiency semapv:MappingInversion +MONDO:0013968 PGM1-congenital disorder of glycosylation skos:closeMatch NANDO:1200836 Glycogen storage diseases type XIV semapv:MappingInversion +MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch NANDO:1200726 Primary membranoproliferative glomerulonephritis type I semapv:MappingInversion +MONDO:0014007 Aicardi-Goutieres syndrome 6 skos:closeMatch NANDO:2200898 Aicardi-Goutieres syndrome 6 semapv:MappingInversion +MONDO:0014078 platelet-type bleeding disorder 15 skos:closeMatch NANDO:2200665 ACTN1 mutations semapv:MappingInversion +MONDO:0014252 familial hypobetalipoproteinemia 1 skos:closeMatch NANDO:1201037 Homozygous familial hypobetalipoproteinemia 1 semapv:MappingInversion +MONDO:0014253 obsolete autoimmune lymphoproliferative syndrome type 3 skos:closeMatch NANDO:2200743 PKC-δ deficiency semapv:MappingInversion +MONDO:0014255 complement factor b deficiency skos:closeMatch NANDO:2200797 Factor B deficiency semapv:MappingInversion +MONDO:0014306 vasculitis due to ADA2 deficiency skos:closeMatch NANDO:1200995 Adenosine deaminase 2 deficiency semapv:MappingInversion +MONDO:0014306 vasculitis due to ADA2 deficiency skos:closeMatch NANDO:2200441 Adenosine deaminase 2 deficiency semapv:MappingInversion +MONDO:0014306 vasculitis due to ADA2 deficiency skos:closeMatch NANDO:2200450 Deficiency of the enzyme ADA2 semapv:MappingInversion +MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 skos:closeMatch NANDO:1201046 Progressive familial intrahepatic cholestasis type 4 semapv:MappingInversion +MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure skos:closeMatch NANDO:1200952 Leukoencephalopathy, progressive, with ovarian failure semapv:MappingInversion +MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency skos:closeMatch NANDO:2200766 HOIL-1 deficiency semapv:MappingInversion +MONDO:0014421 glucocorticoid resistance skos:closeMatch NANDO:2200358 Glucocorticoid resistance semapv:MappingInversion +MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome skos:closeMatch NANDO:1200994 NLRC4 mutation semapv:MappingInversion +MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome skos:closeMatch NANDO:2200459 NLRC4 mutation semapv:MappingInversion +MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection skos:closeMatch NANDO:2200770 STAT2 deficiency semapv:MappingInversion +MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome skos:closeMatch NANDO:2200985 Takenouchi-Kosaki syndrome semapv:MappingInversion +MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 skos:closeMatch NANDO:1201047 Progressive familial intrahepatic cholestasis type 5 semapv:MappingInversion +MONDO:0014945 myopathy, distal, with rimmed vacuoles skos:closeMatch NANDO:1200218 Distal myopathy with rimmed vacuoles semapv:MappingInversion +MONDO:0015075 thyroid gland carcinoma skos:closeMatch NANDO:2200074 Thyroid cancer semapv:MappingInversion +MONDO:0015104 porphyria cutanea tarda skos:closeMatch NANDO:1200816 Porphyria cutanea tarda semapv:MappingInversion +MONDO:0015104 porphyria cutanea tarda skos:closeMatch NANDO:2201267 Porphyria cutanea tarda semapv:MappingInversion +MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch NANDO:1200411 Addison's disease semapv:MappingInversion +MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch NANDO:2200359 Other chronic adrenal insufficiency semapv:MappingInversion +MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch NANDO:2200360 Addison's disease semapv:MappingInversion +MONDO:0015131 combined immunodeficiency skos:closeMatch NANDO:2100203 Combined immunodeficiency semapv:MappingInversion +MONDO:0015146 classic lissencephaly skos:closeMatch NANDO:1201068 Agyria semapv:MappingInversion +MONDO:0015146 classic lissencephaly skos:closeMatch NANDO:1201069 Pachygyria semapv:MappingInversion +MONDO:0015149 pure hereditary spastic paraplegia skos:closeMatch NANDO:1200053 Pure hereditary spastic paraplegia semapv:MappingInversion +MONDO:0015150 complex hereditary spastic paraplegia skos:closeMatch NANDO:1200054 Complex hereditary spastic paraplegia semapv:MappingInversion +MONDO:0015169 chronic diarrhea due to glucoamylase deficiency skos:closeMatch NANDO:2200911 Amylase deficiency semapv:MappingInversion +MONDO:0015175 autoimmune pancreatitis skos:closeMatch NANDO:1200925 Autoimmune pancreatitis semapv:MappingInversion +MONDO:0015175 autoimmune pancreatitis skos:closeMatch NANDO:2200943 Autoimmune pancreatitis semapv:MappingInversion +MONDO:0015183 short bowel syndrome skos:closeMatch NANDO:2100274 Short bowel syndrome semapv:MappingInversion +MONDO:0015183 short bowel syndrome skos:closeMatch NANDO:2200944 Short bowel syndrome semapv:MappingInversion +MONDO:0015194 sideroblastic anemia skos:closeMatch NANDO:2100179 Sideroblastic anemia semapv:MappingInversion +MONDO:0015194 sideroblastic anemia skos:closeMatch NANDO:2200616 Sideroblastic anemia semapv:MappingInversion +MONDO:0015197 aneurysm of sinus of Valsalva skos:closeMatch NANDO:2200293 Aneurysm of sinus valsalva semapv:MappingInversion +MONDO:0015229 Bardet-Biedl syndrome skos:closeMatch NANDO:2200414 Bardet-Biedl syndrome semapv:MappingInversion +MONDO:0015231 Bartter syndrome skos:closeMatch NANDO:2100021 Bartter syndrome semapv:MappingInversion +MONDO:0015231 Bartter syndrome skos:closeMatch NANDO:2200146 Bartter syndrome semapv:MappingInversion +MONDO:0015253 Diamond-Blackfan anemia skos:closeMatch NANDO:1200890 Diamond-Blackfan anemia semapv:MappingInversion +MONDO:0015253 Diamond-Blackfan anemia skos:closeMatch NANDO:2200614 Congenital red cell aplasia semapv:MappingInversion +MONDO:0015264 cryptogenic organizing pneumonia skos:closeMatch NANDO:1200421 Cryptogenic organizing pneumonia semapv:MappingInversion +MONDO:0015265 bronchiolitis obliterans syndrome skos:closeMatch NANDO:1200745 Bronchiolitis obliterans semapv:MappingInversion +MONDO:0015265 bronchiolitis obliterans syndrome skos:closeMatch NANDO:2100039 Bronchiolitis obliterans semapv:MappingInversion +MONDO:0015265 bronchiolitis obliterans syndrome skos:closeMatch NANDO:2200209 Bronchiolitis obliterans semapv:MappingInversion +MONDO:0015268 medullary sponge kidney skos:closeMatch NANDO:2200173 Medullary sponge kidney semapv:MappingInversion +MONDO:0015273 complete atrioventricular canal skos:closeMatch NANDO:2100086 Complete atrioventricular septal defect semapv:MappingInversion +MONDO:0015273 complete atrioventricular canal skos:closeMatch NANDO:2200269 Complete atrioventricular septal defect semapv:MappingInversion +MONDO:0015275 partial atrioventricular canal skos:closeMatch NANDO:2200268 Incomplete atrioventricular septal defect semapv:MappingInversion +MONDO:0015277 medullary thyroid gland carcinoma skos:closeMatch NANDO:2201054 Medullary thyroid carcinoma semapv:MappingInversion +MONDO:0015279 chronic mucocutaneous candidiasis skos:closeMatch NANDO:1200363 Chronic mucocutaneous candidiasis semapv:MappingInversion +MONDO:0015279 chronic mucocutaneous candidiasis skos:closeMatch NANDO:2200764 Chronic mucocutaneous candidiasis semapv:MappingInversion +MONDO:0015280 cardiofaciocutaneous syndrome skos:closeMatch NANDO:1200462 CFC Syndrome semapv:MappingInversion +MONDO:0015280 cardiofaciocutaneous syndrome skos:closeMatch NANDO:2200967 CFC Syndrome semapv:MappingInversion +MONDO:0015285 Carney complex skos:closeMatch NANDO:1200756 Carney complex semapv:MappingInversion +MONDO:0015333 progeroid syndrome skos:closeMatch NANDO:2100221 Progeroid syndromes semapv:MappingInversion +MONDO:0015337 isolated craniosynostosis skos:closeMatch NANDO:2200843 Non-syndromic craniosynostosis semapv:MappingInversion +MONDO:0015339 adrenomyeloneuropathy skos:closeMatch NANDO:1200168 Adrenomyeloneuropathy semapv:MappingInversion +MONDO:0015339 adrenomyeloneuropathy skos:closeMatch NANDO:2201248 Adrenomyeloneuropathy semapv:MappingInversion +MONDO:0015358 hereditary motor and sensory neuropathy skos:closeMatch NANDO:2200855 Hereditary Motor and Sensory Neuropathy semapv:MappingInversion +MONDO:0015369 Joubert syndrome and related disorders skos:closeMatch NANDO:1200661 Joubert syndrome and related disorders semapv:MappingInversion +MONDO:0015369 Joubert syndrome and related disorders skos:closeMatch NANDO:2100218 Joubert syndrome related disorders semapv:MappingInversion +MONDO:0015369 Joubert syndrome and related disorders skos:closeMatch NANDO:2200824 Joubert syndrome related disorders semapv:MappingInversion +MONDO:0015375 orofaciodigital syndrome skos:closeMatch NANDO:1201051 Oral-facial-digital syndrome semapv:MappingInversion +MONDO:0015395 congenital subglottic stenosis skos:closeMatch NANDO:1201004 Congenital subglottic stenosis semapv:MappingInversion +MONDO:0015395 congenital subglottic stenosis skos:closeMatch NANDO:2200190 Laryngeal stenosis semapv:MappingInversion +MONDO:0015408 diffuse lymphatic malformation skos:closeMatch NANDO:1200879 obsolete Lymphangiomatosis semapv:MappingInversion +MONDO:0015408 diffuse lymphatic malformation skos:closeMatch NANDO:2201033 Lymphangiomatosis semapv:MappingInversion +MONDO:0015436 ring chromosome 20 skos:closeMatch NANDO:1200597 Ring chromosome 20 syndrome semapv:MappingInversion +MONDO:0015446 atypical coarctation of aorta skos:closeMatch NANDO:2200284 Coarctation complex semapv:MappingInversion +MONDO:0015450 triatrial heart skos:closeMatch NANDO:2100083 Cor triatriatum semapv:MappingInversion +MONDO:0015450 triatrial heart skos:closeMatch NANDO:2200263 Cor triatriatum semapv:MappingInversion +MONDO:0015451 univentricular heart skos:closeMatch NANDO:1200704 Single ventricle semapv:MappingInversion +MONDO:0015451 univentricular heart skos:closeMatch NANDO:2200250 Single ventricle semapv:MappingInversion +MONDO:0015452 Coffin-Siris syndrome skos:closeMatch NANDO:1200670 Coffin-Siris syndrome semapv:MappingInversion +MONDO:0015452 Coffin-Siris syndrome skos:closeMatch NANDO:2200977 Coffin-Siris syndrome semapv:MappingInversion +MONDO:0015454 multiple carboxylase deficiency skos:closeMatch NANDO:1200820 Multiple carboxylase deficiency semapv:MappingInversion +MONDO:0015454 multiple carboxylase deficiency skos:closeMatch NANDO:2200500 Multiple carboxylase deficiency semapv:MappingInversion +MONDO:0015465 craniometaphyseal dysplasia skos:closeMatch NANDO:2201366 Craniometaphyseal dysplasia semapv:MappingInversion +MONDO:0015469 craniosynostosis skos:closeMatch NANDO:2100227 Craniosynostosis semapv:MappingInversion +MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:closeMatch NANDO:1200971 Carnitine palmitoyltransferase II deficiency semapv:MappingInversion +MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:closeMatch NANDO:2200510 Carnitine palmitoyltransferase II deficiency semapv:MappingInversion +MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:closeMatch NANDO:2201133 Infantile-onset carnitine palmitoyl transferase II deficiency semapv:MappingInversion +MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:closeMatch NANDO:2201134 Late-onset carnitine palmitoyltransferase II deficiency semapv:MappingInversion +MONDO:0015517 common variable immunodeficiency skos:closeMatch NANDO:1200344 Common variable immunodeficiency semapv:MappingInversion +MONDO:0015517 common variable immunodeficiency skos:closeMatch NANDO:2200717 Common variable immunodeficiency semapv:MappingInversion +MONDO:0015518 infantile bilateral striatal necrosis skos:closeMatch NANDO:2100242 Infantile bilateral striatal necrosis semapv:MappingInversion +MONDO:0015518 infantile bilateral striatal necrosis skos:closeMatch NANDO:2200888 Infantile bilateral striatal necrosis semapv:MappingInversion +MONDO:0015534 juvenile xanthogranuloma skos:closeMatch NANDO:2200037 Juvenile xanthogranuloma semapv:MappingInversion +MONDO:0015540 hemophagocytic syndrome skos:closeMatch NANDO:2200032 Hemophagocytic lymphohistiocytosis semapv:MappingInversion +MONDO:0015584 febrile infection-related epilepsy syndrome skos:closeMatch NANDO:1200600 Acute encephalitis with refractory, repetitive partial seizures semapv:MappingInversion +MONDO:0015584 febrile infection-related epilepsy syndrome skos:closeMatch NANDO:2100249 Acute encephalitis with refractory, repetitive partial seizures semapv:MappingInversion +MONDO:0015584 febrile infection-related epilepsy syndrome skos:closeMatch NANDO:2200903 Acute encephalitis with refractory, repetitive partial seizures semapv:MappingInversion +MONDO:0015610 acquired aplastic anemia skos:closeMatch NANDO:2201277 Secondary aplastic anemia semapv:MappingInversion +MONDO:0015611 neutral lipid storage disease skos:closeMatch NANDO:1200622 Dorfman-Chanarin syndrome semapv:MappingInversion +MONDO:0015611 neutral lipid storage disease skos:closeMatch NANDO:2200997 Dorfman-Chanarin syndrome semapv:MappingInversion +MONDO:0015626 Charcot-Marie-Tooth disease skos:closeMatch NANDO:1200016 Charcot-Marie-Tooth disease semapv:MappingInversion +MONDO:0015626 Charcot-Marie-Tooth disease skos:closeMatch NANDO:2200855 Hereditary Motor and Sensory Neuropathy semapv:MappingInversion +MONDO:0015627 multiple epiphyseal dysplasia due to collagen 9 anomaly skos:closeMatch NANDO:2201016 Type II collagenopathy semapv:MappingInversion +MONDO:0015674 late infantile neuronal ceroid lipofuscinosis skos:closeMatch NANDO:1200153 Late infantile neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0015674 late infantile neuronal ceroid lipofuscinosis skos:closeMatch NANDO:2201242 Late infantile neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0015677 cardiac diverticulum skos:closeMatch NANDO:2200234 Aneurysm of ventricle semapv:MappingInversion +MONDO:0015691 hypereosinophilic syndrome skos:closeMatch NANDO:2200805 Hyper eosinophilic syndrome semapv:MappingInversion +MONDO:0015691 hypereosinophilic syndrome skos:closeMatch NANDO:2200806 Hypereosinophilic syndrome semapv:MappingInversion +MONDO:0015698 transient hypogammaglobulinemia of infancy skos:closeMatch NANDO:1200349 Transient hypogammaglobulinemia of infancy with normal numbers of B cells semapv:MappingInversion +MONDO:0015698 transient hypogammaglobulinemia of infancy skos:closeMatch NANDO:2200722 Transient hypogammaglobulinemia of infancy with normal numbers of B cells semapv:MappingInversion +MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells skos:closeMatch NANDO:1200348 Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells semapv:MappingInversion +MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells skos:closeMatch NANDO:2200721 Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells semapv:MappingInversion +MONDO:0015759 B-cell non-Hodgkin lymphoma skos:closeMatch NANDO:2200020 Mature B-cell lymphoma semapv:MappingInversion +MONDO:0015762 progressive familial intrahepatic cholestasis skos:closeMatch NANDO:1201042 Progressive familial intrahepatic cholestasis semapv:MappingInversion +MONDO:0015762 progressive familial intrahepatic cholestasis skos:closeMatch NANDO:2200933 Progressive familial intrahepatic cholestasis semapv:MappingInversion +MONDO:0015770 congenital hypogonadotropic hypogonadism skos:closeMatch NANDO:1200383 Congenital hypogonadotropic hypogonadism semapv:MappingInversion +MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis skos:closeMatch NANDO:2200388 Mixed gonadal dysgenesis semapv:MappingInversion +MONDO:0015780 dyskeratosis congenita skos:closeMatch NANDO:1200304 Dyskeratosis congenita semapv:MappingInversion +MONDO:0015780 dyskeratosis congenita skos:closeMatch NANDO:1200342 Dyskeratosis congenita semapv:MappingInversion +MONDO:0015780 dyskeratosis congenita skos:closeMatch NANDO:2200715 Dyskeratosis congenita semapv:MappingInversion +MONDO:0015790 central diabetes insipidus skos:closeMatch NANDO:1200375 Central diabetes insipidus semapv:MappingInversion +MONDO:0015790 central diabetes insipidus skos:closeMatch NANDO:2200324 Central diabetes insipidus semapv:MappingInversion +MONDO:0015791 peripheral precocious puberty skos:closeMatch NANDO:2200378 Non-gonadotropin-dependent precocious puberty semapv:MappingInversion +MONDO:0015863 polyembryoma skos:closeMatch NANDO:2200068 Polyembryoma semapv:MappingInversion +MONDO:0015864 mixed germ cell tumor skos:closeMatch NANDO:2200071 Mixed germ cell tumour semapv:MappingInversion +MONDO:0015892 growth hormone insensitivity syndrome skos:closeMatch NANDO:2100114 Growth hormone insensitivity semapv:MappingInversion +MONDO:0015892 growth hormone insensitivity syndrome skos:closeMatch NANDO:2200321 Growth hormone insensitivity semapv:MappingInversion +MONDO:0015895 obsolete syndrome with hypoparathyroidism skos:closeMatch NANDO:1200775 Hypoparathyroidism semapv:MappingInversion +MONDO:0015895 obsolete syndrome with hypoparathyroidism skos:closeMatch NANDO:2100124 Hypoparathyroidism semapv:MappingInversion +MONDO:0015895 obsolete syndrome with hypoparathyroidism skos:closeMatch NANDO:2200345 Hypoparathyroidism semapv:MappingInversion +MONDO:0015900 hypoaldosteronism disease skos:closeMatch NANDO:2100132 Hypoaldosteronism semapv:MappingInversion +MONDO:0015909 aplastic anemia skos:closeMatch NANDO:1200295 Aplastic anemia semapv:MappingInversion +MONDO:0015909 aplastic anemia skos:closeMatch NANDO:1200301 Borderline between aplastic anemia and MDS semapv:MappingInversion +MONDO:0015909 aplastic anemia skos:closeMatch NANDO:2100201 Aplastic anemia semapv:MappingInversion +MONDO:0015909 aplastic anemia skos:closeMatch NANDO:2200693 Aplastic anemia semapv:MappingInversion +MONDO:0015924 pulmonary arterial hypertension skos:closeMatch NANDO:1200425 Pulmonary arterial hypertension semapv:MappingInversion +MONDO:0015924 pulmonary arterial hypertension skos:closeMatch NANDO:2100103 Pulmonary arterial hypertension semapv:MappingInversion +MONDO:0015924 pulmonary arterial hypertension skos:closeMatch NANDO:2200298 Pulmonary arterial hypertension semapv:MappingInversion +MONDO:0015929 thoracic malformation skos:closeMatch NANDO:2201008 Thoracic insufficiency syndrome semapv:MappingInversion +MONDO:0015943 eosinophilic granulomatosis with polyangiitis skos:closeMatch NANDO:1200264 Eosinophilic granulomatosis with polyangiitis semapv:MappingInversion +MONDO:0015943 eosinophilic granulomatosis with polyangiitis skos:closeMatch NANDO:2200427 Eosinophilic granulomatosis with polyangiitis semapv:MappingInversion +MONDO:0015947 inherited ichthyosis skos:closeMatch NANDO:1200609 Congenital ichthyosis semapv:MappingInversion +MONDO:0015947 inherited ichthyosis skos:closeMatch NANDO:2100283 Congenital ichthyosis semapv:MappingInversion +MONDO:0015988 multicystic dysplastic kidney skos:closeMatch NANDO:2200158 Multicystic dysplastic kidney semapv:MappingInversion +MONDO:0015993 cone-rod dystrophy skos:closeMatch NANDO:1200937 Cone-rod dystrophy semapv:MappingInversion +MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch NANDO:1200649 Ehlers-Danlos syndrome, kyphoscoliotic type semapv:MappingInversion +MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch NANDO:2201259 Ehlers-Danlos syndrome, kyphoscoliotic type semapv:MappingInversion +MONDO:0016006 Cockayne syndrome skos:closeMatch NANDO:1200677 Cockayne syndrome semapv:MappingInversion +MONDO:0016006 Cockayne syndrome skos:closeMatch NANDO:2200832 Cockayne syndrome semapv:MappingInversion +MONDO:0016019 Rasmussen subacute encephalitis skos:closeMatch NANDO:1200598 Rasmussen's encephalitis semapv:MappingInversion +MONDO:0016019 Rasmussen subacute encephalitis skos:closeMatch NANDO:2100246 Rasmussen's encephalitis semapv:MappingInversion +MONDO:0016019 Rasmussen subacute encephalitis skos:closeMatch NANDO:2200900 Rasmussen's encephalitis semapv:MappingInversion +MONDO:0016022 early myoclonic encephalopathy skos:closeMatch NANDO:1200594 Early myoclonic encephalopathy semapv:MappingInversion +MONDO:0016025 myoclonic-astatic epilepsy skos:closeMatch NANDO:1200590 Epilepsy with myoclonic atonic seizures semapv:MappingInversion +MONDO:0016030 Evans syndrome skos:closeMatch NANDO:1200310 Evans syndrome semapv:MappingInversion +MONDO:0016033 Cornelia de Lange syndrome skos:closeMatch NANDO:1200960 Cornelia de lange syndrome semapv:MappingInversion +MONDO:0016033 Cornelia de Lange syndrome skos:closeMatch NANDO:2200958 Cornelia de Lange syndrome semapv:MappingInversion +MONDO:0016054 cerebral malformation skos:closeMatch NANDO:2100217 Brain malformation semapv:MappingInversion +MONDO:0016063 Cowden disease skos:closeMatch NANDO:2200918 Cowden syndrome semapv:MappingInversion +MONDO:0016068 fibrochondrogenesis skos:closeMatch NANDO:2201016 Type II collagenopathy semapv:MappingInversion +MONDO:0016079 sporadic Creutzfeldt-Jakob disease skos:closeMatch NANDO:1200187 Sporadic Creutzfeldt-Jakob disease semapv:MappingInversion +MONDO:0016081 coronary arterial fistulas skos:closeMatch NANDO:2200296 Coronary artery fistula semapv:MappingInversion +MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency skos:closeMatch NANDO:2200586 Lesch-Nyhan syndrome semapv:MappingInversion +MONDO:0016089 infantile Krabbe disease skos:closeMatch NANDO:1200075 Infantile Krabbe disease semapv:MappingInversion +MONDO:0016089 infantile Krabbe disease skos:closeMatch NANDO:2201216 Infantile Krabbe disease semapv:MappingInversion +MONDO:0016091 adult Krabbe disease skos:closeMatch NANDO:1200077 Adult Krabbe disease semapv:MappingInversion +MONDO:0016091 adult Krabbe disease skos:closeMatch NANDO:2201219 Adult Krabbe disease semapv:MappingInversion +MONDO:0016107 myotonic dystrophy skos:closeMatch NANDO:1200495 Myotonic dystrophy semapv:MappingInversion +MONDO:0016107 myotonic dystrophy skos:closeMatch NANDO:2200864 Myotonic dystrophy semapv:MappingInversion +MONDO:0016110 obsolete non-dystrophic myopathy skos:closeMatch NANDO:1200496 Non-dystrophic myotonia semapv:MappingInversion +MONDO:0016113 bulbospinal muscular atrophy skos:closeMatch NANDO:1200001 Spinal and bulbar muscular atrophy semapv:MappingInversion +MONDO:0016118 obsolete muscular glycogenosis skos:closeMatch NANDO:1200823 Muscle glycogen storage disease semapv:MappingInversion +MONDO:0016129 eosinophilic gastroenteritis skos:closeMatch NANDO:1200457 Eosinophilic gastroenteritis semapv:MappingInversion +MONDO:0016147 qualitative or quantitative defects of dystrophin skos:closeMatch NANDO:1200487 Dystrophinopathies semapv:MappingInversion +MONDO:0016168 cryopyrin-associated periodic syndrome skos:closeMatch NANDO:1200465 Cryopyrin-associated periodic syndrome semapv:MappingInversion +MONDO:0016168 cryopyrin-associated periodic syndrome skos:closeMatch NANDO:2200432 Cryopyrin-associated periodic syndrome semapv:MappingInversion +MONDO:0016233 obsolete rare lymphatic system malformation skos:closeMatch NANDO:1200881 Giant lymphatic malformation (cervicofacial lesion) semapv:MappingInversion +MONDO:0016239 cystinosis skos:closeMatch NANDO:1200161 Cystinosis semapv:MappingInversion +MONDO:0016239 cystinosis skos:closeMatch NANDO:2200571 Cystinosis semapv:MappingInversion +MONDO:0016241 alternating hemiplegia of childhood skos:closeMatch NANDO:1200403 Congenital adrenal hypoplasia semapv:MappingInversion +MONDO:0016241 alternating hemiplegia of childhood skos:closeMatch NANDO:1200525 Alternating hemiplegia of childhood semapv:MappingInversion +MONDO:0016241 alternating hemiplegia of childhood skos:closeMatch NANDO:2100239 Alternating hemiplegia of childhood semapv:MappingInversion +MONDO:0016241 alternating hemiplegia of childhood skos:closeMatch NANDO:2200357 Congenital adrenal hypoplasia semapv:MappingInversion +MONDO:0016241 alternating hemiplegia of childhood skos:closeMatch NANDO:2200883 Alternating hemiplegia of childhood semapv:MappingInversion +MONDO:0016242 hemoglobin C disease skos:closeMatch NANDO:2200635 Hemoglobin C disease semapv:MappingInversion +MONDO:0016244 atypical hemolytic-uremic syndrome skos:closeMatch NANDO:1200473 Atypical hemolytic uremic syndrome semapv:MappingInversion +MONDO:0016244 atypical hemolytic-uremic syndrome skos:closeMatch NANDO:1200474 Congenital atypical hemolytic uremic syndrome semapv:MappingInversion +MONDO:0016244 atypical hemolytic-uremic syndrome skos:closeMatch NANDO:2200131 Atypical hemolytic uremic syndrome semapv:MappingInversion +MONDO:0016244 atypical hemolytic-uremic syndrome skos:closeMatch NANDO:2200641 Atypical hemolytic uremic syndrome semapv:MappingInversion +MONDO:0016264 autoimmune hepatitis skos:closeMatch NANDO:1200441 Autoimmune hepatitis semapv:MappingInversion +MONDO:0016264 autoimmune hepatitis skos:closeMatch NANDO:1200442 Typical autoimmune hepatitis semapv:MappingInversion +MONDO:0016264 autoimmune hepatitis skos:closeMatch NANDO:2100264 Autoimmune hepatitis semapv:MappingInversion +MONDO:0016281 46,XX ovotesticular disorder of sex development skos:closeMatch NANDO:2200387 Ovotesticular dsd semapv:MappingInversion +MONDO:0016295 neuronal ceroid lipofuscinosis skos:closeMatch NANDO:1200150 Neuronal ceroid-lipofuscinosis semapv:MappingInversion +MONDO:0016295 neuronal ceroid lipofuscinosis skos:closeMatch NANDO:2200573 Neuronal ceroid lipofuscinoses semapv:MappingInversion +MONDO:0016296 holoprosencephaly skos:closeMatch NANDO:2200819 Holoprosencephaly semapv:MappingInversion +MONDO:0016301 congenitally corrected transposition of the great arteries skos:closeMatch NANDO:1200699 Complete transposition of the great arteries semapv:MappingInversion +MONDO:0016301 congenitally corrected transposition of the great arteries skos:closeMatch NANDO:1200701 Complete transposition of the great arteries (Group2) semapv:MappingInversion +MONDO:0016301 congenitally corrected transposition of the great arteries skos:closeMatch NANDO:1200703 Complete transposition of the great arteries (Group4) semapv:MappingInversion +MONDO:0016301 congenitally corrected transposition of the great arteries skos:closeMatch NANDO:2100079 Congenitally corrected transposition of the great arteries semapv:MappingInversion +MONDO:0016301 congenitally corrected transposition of the great arteries skos:closeMatch NANDO:2200259 Congenitally corrected transposition of the great arteries semapv:MappingInversion +MONDO:0016303 congenitally uncorrected transposition of the great arteries with cardiac malformation skos:closeMatch NANDO:1200701 Complete transposition of the great arteries (Group2) semapv:MappingInversion +MONDO:0016304 classic pantothenate kinase-associated neurodegeneration skos:closeMatch NANDO:1200535 Classic pantothenate kinase-associated neurodegeneration semapv:MappingInversion +MONDO:0016305 atypical pantothenate kinase-associated neurodegeneration skos:closeMatch NANDO:1200536 Atypical pantothenate kinase-associated neurodegeneration semapv:MappingInversion +MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset skos:closeMatch NANDO:1200065 Adult-onset Niemann-Pick disease type C semapv:MappingInversion +MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset skos:closeMatch NANDO:2201209 Adult-onset Niemann-Pick disease type C semapv:MappingInversion +MONDO:0016315 mucopolysaccharidosis type 2, severe form skos:closeMatch NANDO:1200098 Hunter syndrome type A semapv:MappingInversion +MONDO:0016315 mucopolysaccharidosis type 2, severe form skos:closeMatch NANDO:2201173 Mucopolysaccharidosis type II, severe form semapv:MappingInversion +MONDO:0016316 mucopolysaccharidosis type 2, attenuated form skos:closeMatch NANDO:1200099 Hunter syndrome type B semapv:MappingInversion +MONDO:0016316 mucopolysaccharidosis type 2, attenuated form skos:closeMatch NANDO:2201171 Mucopolysaccharidosis type II, attenuated form semapv:MappingInversion +MONDO:0016316 mucopolysaccharidosis type 2, attenuated form skos:closeMatch NANDO:2201172 Mucopolysaccharidosis type II, intermediate form semapv:MappingInversion +MONDO:0016318 progressive multifocal leukoencephalopathy skos:closeMatch NANDO:1200205 Progressive multifocal leukoencephalopathy semapv:MappingInversion +MONDO:0016345 non-familial restrictive cardiomyopathy skos:closeMatch NANDO:1200294 Secondary restrictive cardiomyopathy semapv:MappingInversion +MONDO:0016349 congenital hydrocephalus skos:closeMatch NANDO:2200822 Congenital hydrocephalus semapv:MappingInversion +MONDO:0016356 diffuse cutaneous systemic sclerosis skos:closeMatch NANDO:1201010 Diffuse cutaneous systemic sclerosis semapv:MappingInversion +MONDO:0016358 limited cutaneous systemic sclerosis skos:closeMatch NANDO:1201011 Limited cutaneous systemic sclerosis semapv:MappingInversion +MONDO:0016367 dermatomyositis skos:closeMatch NANDO:1200274 Dermatomyositis semapv:MappingInversion +MONDO:0016383 nephrogenic diabetes insipidus skos:closeMatch NANDO:1200742 Congenital nephrogenic diabetes insipidus semapv:MappingInversion +MONDO:0016383 nephrogenic diabetes insipidus skos:closeMatch NANDO:2200326 Nephrogenic diabetes insipidus semapv:MappingInversion +MONDO:0016391 neonatal diabetes mellitus skos:closeMatch NANDO:2200463 Neonatal diabetes mellitus semapv:MappingInversion +MONDO:0016407 oligomeganephronia skos:closeMatch NANDO:2200159 Oligomeganephronia semapv:MappingInversion +MONDO:0016410 central congenital hypothyroidism skos:closeMatch NANDO:1200390 Thyroid-stimulating hormone deficiency semapv:MappingInversion +MONDO:0016410 central congenital hypothyroidism skos:closeMatch NANDO:2200332 Thyroid-stimulating hormone deficiency semapv:MappingInversion +MONDO:0016410 central congenital hypothyroidism skos:closeMatch NANDO:2200340 Central hypothyroidism semapv:MappingInversion +MONDO:0016418 multiple system atrophy, cerebellar type skos:closeMatch NANDO:1200035 Multiple system atrophy, cerebellar type semapv:MappingInversion +MONDO:0016430 Balo concentric sclerosis skos:closeMatch NANDO:1200028 Baló concentric sclerosis semapv:MappingInversion +MONDO:0016484 Usher syndrome type 2 skos:closeMatch NANDO:1200943 Usher syndrome Type II semapv:MappingInversion +MONDO:0016485 Usher syndrome type 3 skos:closeMatch NANDO:1200944 Usher syndrome Type III semapv:MappingInversion +MONDO:0016512 Kabuki syndrome skos:closeMatch NANDO:1200672 Kabuki syndrome semapv:MappingInversion +MONDO:0016512 Kabuki syndrome skos:closeMatch NANDO:2200956 Kabuki syndrome semapv:MappingInversion +MONDO:0016525 familial hyperaldosteronism skos:closeMatch NANDO:2200602 Familial hypercholesterolemia semapv:MappingInversion +MONDO:0016532 Lennox-Gastaut syndrome skos:closeMatch NANDO:1200591 Lennox-Gastaut syndrome semapv:MappingInversion +MONDO:0016532 Lennox-Gastaut syndrome skos:closeMatch NANDO:2200879 Lennox-Gastaut syndrome semapv:MappingInversion +MONDO:0016535 hypohidrotic ectodermal dysplasia skos:closeMatch NANDO:2201005 Anhidrotic ectodermal dysplasia semapv:MappingInversion +MONDO:0016536 autosomal recessive lymphoproliferative disease skos:closeMatch NANDO:2200735 CD27 deficiency semapv:MappingInversion +MONDO:0016542 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome skos:closeMatch NANDO:2200446 IL10 deficiency semapv:MappingInversion +MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency skos:closeMatch NANDO:1200786 Tetrahydrobiopterin deficiency semapv:MappingInversion +MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency skos:closeMatch NANDO:2200594 Tetrahydrobiopterin deficiency semapv:MappingInversion +MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency skos:closeMatch NANDO:2201076 BH4 deficiency semapv:MappingInversion +MONDO:0016575 primary ciliary dyskinesia skos:closeMatch NANDO:2100034 Primary ciliary dyskinesia semapv:MappingInversion +MONDO:0016575 primary ciliary dyskinesia skos:closeMatch NANDO:2200203 Primary ciliary dyskinesia semapv:MappingInversion +MONDO:0016575 primary ciliary dyskinesia skos:closeMatch NANDO:2200204 Kartagener syndrome semapv:MappingInversion +MONDO:0016581 conotruncal heart malformations skos:closeMatch NANDO:2200275 Double-chambered right ventricle semapv:MappingInversion +MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy skos:closeMatch NANDO:2100055 Arrhythmogenic right ventricular cardiomyopathy or dysplasia semapv:MappingInversion +MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy skos:closeMatch NANDO:2200230 Arrhythmogenic right ventricular cardiomyopathy or dysplasia semapv:MappingInversion +MONDO:0016594 superficial siderosis skos:closeMatch NANDO:1200543 Superficial siderosis semapv:MappingInversion +MONDO:0016597 obsolete generalized pustular psoriasis skos:closeMatch NANDO:1200240 Pustular psoriasis semapv:MappingInversion +MONDO:0016600 acute neonatal citrullinemia type I skos:closeMatch NANDO:2201094 Neonatal-onset argininosuccinate synthetase deficiency semapv:MappingInversion +MONDO:0016601 adult-onset citrullinemia type I skos:closeMatch NANDO:2201095 Late-onset argininosuccinate synthetase deficiency semapv:MappingInversion +MONDO:0016602 citrin deficiency skos:closeMatch NANDO:1200978 Citrin deficiency semapv:MappingInversion +MONDO:0016602 citrin deficiency skos:closeMatch NANDO:2200483 Citrin deficiency semapv:MappingInversion +MONDO:0016603 citrullinemia type II skos:closeMatch NANDO:1200980 Adult-onset type II citrullinemia semapv:MappingInversion +MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch NANDO:1200642 Pachydermoperiostosis semapv:MappingInversion +MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch NANDO:2100288 Pachydermoperiostosis semapv:MappingInversion +MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch NANDO:2201004 Pachydermoperiostosis semapv:MappingInversion +MONDO:0016642 meningioma skos:closeMatch NANDO:2200094 Meningioma semapv:MappingInversion +MONDO:0016684 anaplastic astrocytoma skos:closeMatch NANDO:2200086 Anaplastic astrocytoma semapv:MappingInversion +MONDO:0016686 diffuse astrocytoma skos:closeMatch NANDO:2200085 Diffuse astrocytoma semapv:MappingInversion +MONDO:0016691 pilocytic astrocytoma skos:closeMatch NANDO:2200084 Pilocytic astrocytoma semapv:MappingInversion +MONDO:0016695 oligodendroglioma skos:closeMatch NANDO:2200089 Oligodendroglioma semapv:MappingInversion +MONDO:0016698 ependymoma skos:closeMatch NANDO:2200088 Ependymoma semapv:MappingInversion +MONDO:0016723 pineocytoma skos:closeMatch NANDO:2200092 Pineocytoma semapv:MappingInversion +MONDO:0016730 gangliocytoma skos:closeMatch NANDO:2200097 Gangliocytoma semapv:MappingInversion +MONDO:0016733 ganglioglioma skos:closeMatch NANDO:2200096 Ganglioglioma semapv:MappingInversion +MONDO:0016793 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA skos:closeMatch NANDO:2200524 Diseases due to mitochondrial DNA mutation semapv:MappingInversion +MONDO:0016812 dopa-responsive dystonia skos:closeMatch NANDO:1200516 Dystonia 5 semapv:MappingInversion +MONDO:0016812 dopa-responsive dystonia skos:closeMatch NANDO:2200885 Segawa syndrome semapv:MappingInversion +MONDO:0016820 Moyamoya disease skos:closeMatch NANDO:1200183 Moyamoya disease semapv:MappingInversion +MONDO:0016820 Moyamoya disease skos:closeMatch NANDO:2100228 Moyamoya disease semapv:MappingInversion +MONDO:0016820 Moyamoya disease skos:closeMatch NANDO:2200850 Moyamoya disease semapv:MappingInversion +MONDO:0016830 Emery-Dreifuss muscular dystrophy skos:closeMatch NANDO:1200492 Emery-Dreifuss muscular dystrophy semapv:MappingInversion +MONDO:0016830 Emery-Dreifuss muscular dystrophy skos:closeMatch NANDO:2200857 Emery-Dreifuss muscular dystrophy semapv:MappingInversion +MONDO:0016952 partial duplication of the long arm of chromosome 1 skos:closeMatch NANDO:1200958 Partial trisomy 1q semapv:MappingInversion +MONDO:0016971 limb-girdle muscular dystrophy skos:closeMatch NANDO:1200490 Limb-girdle muscular dystrophy semapv:MappingInversion +MONDO:0016971 limb-girdle muscular dystrophy skos:closeMatch NANDO:2200858 Limb-girdle muscular dystrophy semapv:MappingInversion +MONDO:0016987 neuroacanthocytosis skos:closeMatch NANDO:1200013 Neuroacanthocytosis semapv:MappingInversion +MONDO:0017025 Langerhans cell histiocytosis specific to childhood skos:closeMatch NANDO:2200031 Langerhans cell histiocytosis semapv:MappingInversion +MONDO:0017029 Langerhans cell histiocytosis specific to adulthood skos:closeMatch NANDO:2200031 Langerhans cell histiocytosis semapv:MappingInversion +MONDO:0017042 thanatophoric dysplasia skos:closeMatch NANDO:1200874 Thanatophoric dysplasia semapv:MappingInversion +MONDO:0017051 classic maple syrup urine disease skos:closeMatch NANDO:2201078 Classic form maple syrup urine disease semapv:MappingInversion +MONDO:0017052 intermediate maple syrup urine disease skos:closeMatch NANDO:2201079 Intermediate maple syrup urine disease semapv:MappingInversion +MONDO:0017053 intermittent maple syrup urine disease skos:closeMatch NANDO:2201080 Intermittent maple syrup urine disease semapv:MappingInversion +MONDO:0017054 thiamine-responsive maple syrup urine disease skos:closeMatch NANDO:2201081 Thiamine-responsive maple syrup urine disease semapv:MappingInversion +MONDO:0017069 spina bifida cystica skos:closeMatch NANDO:1200509 Myelomeningocele semapv:MappingInversion +MONDO:0017069 spina bifida cystica skos:closeMatch NANDO:2100215 Myelomeningocele semapv:MappingInversion +MONDO:0017069 spina bifida cystica skos:closeMatch NANDO:2200814 Myelomeningocele semapv:MappingInversion +MONDO:0017079 meningoencephalocele skos:closeMatch NANDO:2200813 Meningoencephalocele semapv:MappingInversion +MONDO:0017096 isolated focal cortical dysplasia type Ia skos:closeMatch NANDO:1200565 Focal cortical dysplasia type 1a semapv:MappingInversion +MONDO:0017097 isolated focal cortical dysplasia type Ib skos:closeMatch NANDO:1200566 Focal cortical dysplasia type 1b semapv:MappingInversion +MONDO:0017098 isolated focal cortical dysplasia type Ic skos:closeMatch NANDO:1200567 Focal cortical dysplasia type 1c semapv:MappingInversion +MONDO:0017101 isolated focal cortical dysplasia type IIa skos:closeMatch NANDO:1200568 Focal cortical dysplasia type 2a semapv:MappingInversion +MONDO:0017102 isolated focal cortical dysplasia type IIb skos:closeMatch NANDO:1200569 Focal cortical dysplasia type 2b semapv:MappingInversion +MONDO:0017147 idiopathic pulmonary arterial hypertension skos:closeMatch NANDO:2201046 Idiopathic pulmonary arterial hypertension semapv:MappingInversion +MONDO:0017148 heritable pulmonary arterial hypertension skos:closeMatch NANDO:2201047 Familial pulmonary arterial hypertension semapv:MappingInversion +MONDO:0017150 obsolete pulmonary arterial hypertension associated with another disease skos:closeMatch NANDO:2201048 Secondary pulmonary arterial hypertension semapv:MappingInversion +MONDO:0017160 behavioral variant of frontotemporal dementia skos:closeMatch NANDO:1200549 Behavioral variant frontotemporal dementia semapv:MappingInversion +MONDO:0017169 multiple endocrine neoplasia skos:closeMatch NANDO:2100148 Multiple endocrine neoplasia semapv:MappingInversion +MONDO:0017182 familial hyperinsulinism skos:closeMatch NANDO:2100143 Hyperinsulinemic hypoglycemia semapv:MappingInversion +MONDO:0017182 familial hyperinsulinism skos:closeMatch NANDO:2200399 Congenital hyperinsulinemia semapv:MappingInversion +MONDO:0017198 osteopetrosis skos:closeMatch NANDO:1200998 Osteopetrosis semapv:MappingInversion +MONDO:0017198 osteopetrosis skos:closeMatch NANDO:2201013 Osteopetrosis semapv:MappingInversion +MONDO:0017226 Pelizaeus-Merzbacher-like disease skos:closeMatch NANDO:1200577 Pelizaeus-Merzbacher like disease semapv:MappingInversion +MONDO:0017226 Pelizaeus-Merzbacher-like disease skos:closeMatch NANDO:2201289 Pelizaeus-Merzbacher like disease semapv:MappingInversion +MONDO:0017234 inherited prion disease skos:closeMatch NANDO:1200188 Genetic prion diseases semapv:MappingInversion +MONDO:0017236 rapidly progressive glomerulonephritis skos:closeMatch NANDO:1200714 Rapidly progressive glomerulonephritis semapv:MappingInversion +MONDO:0017236 rapidly progressive glomerulonephritis skos:closeMatch NANDO:1200723 Crescentic glomerulonephritis semapv:MappingInversion +MONDO:0017265 autosomal recessive congenital ichthyosis skos:closeMatch NANDO:1200615 Autosomal recessive congenital ichthyosis excluding harlequin ichthyosis semapv:MappingInversion +MONDO:0017265 autosomal recessive congenital ichthyosis skos:closeMatch NANDO:2200991 Autosomal recessive congenital ichthyosis semapv:MappingInversion +MONDO:0017266 keratinopathic ichthyosis skos:closeMatch NANDO:1200610 Keratinopathic ichthyosis semapv:MappingInversion +MONDO:0017266 keratinopathic ichthyosis skos:closeMatch NANDO:2200987 Keratinopathic ichthyosis semapv:MappingInversion +MONDO:0017276 frontotemporal dementia skos:closeMatch NANDO:1200548 Frontotemporal lobar degeneration semapv:MappingInversion +MONDO:0017278 autoimmune polyendocrinopathy skos:closeMatch NANDO:2100125 Autoimmune polyendocrinopathy semapv:MappingInversion +MONDO:0017287 IgG4-related disease skos:closeMatch NANDO:1200923 IgG4-related disease semapv:MappingInversion +MONDO:0017287 IgG4-related disease skos:closeMatch NANDO:1200924 IgG4-related disease semapv:MappingInversion +MONDO:0017314 Ehlers-Danlos syndrome, vascular type skos:closeMatch NANDO:1200648 Ehlers-Danlos syndrome, vascular type semapv:MappingInversion +MONDO:0017314 Ehlers-Danlos syndrome, vascular type skos:closeMatch NANDO:2201258 Ehlers-Danlos syndrome, vascular type semapv:MappingInversion +MONDO:0017319 hereditary elliptocytosis skos:closeMatch NANDO:2200630 Hereditary elliptocytosis semapv:MappingInversion +MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency skos:closeMatch NANDO:2200536 Phosphoenolpyruvate carboxykinase deficiency semapv:MappingInversion +MONDO:0017353 neonatal glycine encephalopathy skos:closeMatch NANDO:1200985 Neonatal nonketotic hyperglycinemia semapv:MappingInversion +MONDO:0017354 infantile glycine encephalopathy skos:closeMatch NANDO:1200986 Infantile nonketotic hyperglycinemia semapv:MappingInversion +MONDO:0017359 3-methylglutaconic aciduria skos:closeMatch NANDO:1200989 Methylglutaconic aciduria semapv:MappingInversion +MONDO:0017359 3-methylglutaconic aciduria skos:closeMatch NANDO:2200496 Methylglutaconic aciduria semapv:MappingInversion +MONDO:0017361 congenital rubella syndrome skos:closeMatch NANDO:2200890 Congenital rubella syndrome semapv:MappingInversion +MONDO:0017364 POEMS syndrome skos:closeMatch NANDO:1200033 Crow-Fukase syndrome semapv:MappingInversion +MONDO:0017380 juvenile polyposis syndrome skos:closeMatch NANDO:2200916 Juvenile polyposis semapv:MappingInversion +MONDO:0017381 congenital herpes simplex virus infection skos:closeMatch NANDO:2200889 Congenital herpes simplex virus infection semapv:MappingInversion +MONDO:0017385 malignant migrating partial seizures of infancy skos:closeMatch NANDO:1200595 Epilepsy of infancy with migrating focal seizures semapv:MappingInversion +MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria skos:closeMatch NANDO:1200787 Tetrahydrobiopterin-responsive hyperphenylalaninemia semapv:MappingInversion +MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria skos:closeMatch NANDO:2201077 BH4-responsive hyperphenylalaninemia semapv:MappingInversion +MONDO:0017398 3MC syndrome skos:closeMatch NANDO:2200792 Malpuech-Michels-Mingarelli-Carnevale syndrome semapv:MappingInversion +MONDO:0017409 fetal cytomegalovirus syndrome skos:closeMatch NANDO:2200891 Congenital cytomegalovirus infection semapv:MappingInversion +MONDO:0017410 porencephaly skos:closeMatch NANDO:1201074 Porencephaly semapv:MappingInversion +MONDO:0017570 leukocyte adhesion deficiency skos:closeMatch NANDO:1200355 Leukocyte adhesion deficiency semapv:MappingInversion +MONDO:0017570 leukocyte adhesion deficiency skos:closeMatch NANDO:2200755 Leukocyte adhesion deficiency semapv:MappingInversion +MONDO:0017574 chronic intestinal pseudoobstruction skos:closeMatch NANDO:1200458 Chronic idiopathic intestinal pseudo-obstruction semapv:MappingInversion +MONDO:0017574 chronic intestinal pseudoobstruction skos:closeMatch NANDO:2200946 Chronic idiopathic intestinal pseudo-obstruction semapv:MappingInversion +MONDO:0017608 obsolete dystrophic epidermolysis bullosa skos:closeMatch NANDO:2201343 Dystrophic epidermolysis bullosa semapv:MappingInversion +MONDO:0017610 epidermolysis bullosa simplex skos:closeMatch NANDO:1200235 Epidermolysis bullosa simplex semapv:MappingInversion +MONDO:0017610 epidermolysis bullosa simplex skos:closeMatch NANDO:2201341 Epidermolysis bullosa simplex semapv:MappingInversion +MONDO:0017610 epidermolysis bullosa simplex skos:closeMatch NANDO:2201375 Autosomal dominant epidermolysis bullosa simplex semapv:MappingInversion +MONDO:0017612 junctional epidermolysis bullosa skos:closeMatch NANDO:1200236 Junctional epidermolysis bullosa semapv:MappingInversion +MONDO:0017612 junctional epidermolysis bullosa skos:closeMatch NANDO:2201342 Junctional epidermolysis bullosa semapv:MappingInversion +MONDO:0017693 obsolete glycogen storage disease due to glycogen synthase deficiency skos:closeMatch NANDO:1200824 Glycogen storage diseases type 0 semapv:MappingInversion +MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset skos:closeMatch NANDO:1200139 Classic infantile Pompe disease semapv:MappingInversion +MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset skos:closeMatch NANDO:2201229 Classic infantile Pompe disease semapv:MappingInversion +MONDO:0017695 glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form skos:closeMatch NANDO:2201159 Glycogen storage disease type IV, hepatic form semapv:MappingInversion +MONDO:0017696 glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form skos:closeMatch NANDO:2201160 Glycogen storage disease type IV, non-progressive hepatic form semapv:MappingInversion +MONDO:0017697 glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form skos:closeMatch NANDO:2201161 Glycogen storage disease type IV, fatal neuromuscular form semapv:MappingInversion +MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form skos:closeMatch NANDO:2201162 Glycogen storage disease type IV, childhood combined hepatic and myopathic form semapv:MappingInversion +MONDO:0017708 mevalonate kinase deficiency skos:closeMatch NANDO:2200436 Hyper IgD syndrome semapv:MappingInversion +MONDO:0017716 disorder of carnitine cycle and carnitine transport skos:closeMatch NANDO:1200969 Carnitine cycle disorders semapv:MappingInversion +MONDO:0017718 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes skos:closeMatch NANDO:2200522 Mitochondrial respiratory chain disorders semapv:MappingInversion +MONDO:0017720 GM2 gangliosidosis skos:closeMatch NANDO:1200070 GM2 gangliosidosis semapv:MappingInversion +MONDO:0017720 GM2 gangliosidosis skos:closeMatch NANDO:2200559 GM2 gangliosidosis semapv:MappingInversion +MONDO:0017729 metachromatic leukodystrophy, late infantile form skos:closeMatch NANDO:1200079 Late infantile metachromatic leukodystrophy semapv:MappingInversion +MONDO:0017729 metachromatic leukodystrophy, late infantile form skos:closeMatch NANDO:2201202 Metachromatic leukodystrophy, late infantile form semapv:MappingInversion +MONDO:0017730 metachromatic leukodystrophy, adult form skos:closeMatch NANDO:1200081 Adult metachromatic leukodystrophy semapv:MappingInversion +MONDO:0017730 metachromatic leukodystrophy, adult form skos:closeMatch NANDO:2201204 Metachromatic leukodystrophy, adult form semapv:MappingInversion +MONDO:0017732 alpha-mannosidosis, infantile form skos:closeMatch NANDO:1200127 Alpha-mannosidosis, infantile form semapv:MappingInversion +MONDO:0017732 alpha-mannosidosis, infantile form skos:closeMatch NANDO:2201188 Alpha-mannosidosis, infantile form semapv:MappingInversion +MONDO:0017733 alpha-mannosidosis, adult form skos:closeMatch NANDO:1200128 Alpha-mannosidosis, adult form semapv:MappingInversion +MONDO:0017733 alpha-mannosidosis, adult form skos:closeMatch NANDO:2201189 Alpha-mannosidosis, adult form semapv:MappingInversion +MONDO:0017734 sialidosis skos:closeMatch NANDO:1200116 Sialidosis semapv:MappingInversion +MONDO:0017734 sialidosis skos:closeMatch NANDO:2200556 Sialidosis semapv:MappingInversion +MONDO:0017737 intermediate severe Salla disease skos:closeMatch NANDO:1200148 Intermediate severe Salla disease semapv:MappingInversion +MONDO:0017737 intermediate severe Salla disease skos:closeMatch NANDO:2201238 Intermediate severe Salla disease semapv:MappingInversion +MONDO:0017746 atypical Rett syndrome skos:closeMatch NANDO:1200605 Atypical Rett syndrome semapv:MappingInversion +MONDO:0017773 hypoalphalipoproteinemia skos:closeMatch NANDO:2200605 HDL deficiency semapv:MappingInversion +MONDO:0017778 lamellar ichthyosis skos:closeMatch NANDO:1200617 Lamellar ichthyosis semapv:MappingInversion +MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency skos:closeMatch NANDO:1200134 Schindler disease semapv:MappingInversion +MONDO:0017816 primary systemic amyloidosis skos:closeMatch NANDO:1200209 Systemic amyloidosis semapv:MappingInversion +MONDO:0017827 malignant peripheral nerve sheath tumor skos:closeMatch NANDO:2200102 Malignant neurinoma semapv:MappingInversion +MONDO:0017838 sclerosteosis skos:closeMatch NANDO:2201369 Sclerosteosis semapv:MappingInversion +MONDO:0017842 Senior-Loken syndrome skos:closeMatch NANDO:1201049 Senior-Loken syndrome semapv:MappingInversion +MONDO:0017858 acute erythroid leukemia skos:closeMatch NANDO:2200010 Acute erythremia semapv:MappingInversion +MONDO:0017864 congenital pulmonary veins atresia or stenosis skos:closeMatch NANDO:1200964 Congenital pulmonary vein stenosis semapv:MappingInversion +MONDO:0017864 congenital pulmonary veins atresia or stenosis skos:closeMatch NANDO:2200273 Pulmonary venous obstruction semapv:MappingInversion +MONDO:0017870 supravalvular pulmonary stenosis skos:closeMatch NANDO:2200278 Supravalvular pulmonary stenosis semapv:MappingInversion +MONDO:0017910 dehydrated hereditary stomatocytosis skos:closeMatch NANDO:2200633 Stomatocytic xerocytosis semapv:MappingInversion +MONDO:0017979 autoimmune lymphoproliferative syndrome skos:closeMatch NANDO:1200352 Autoimmune lymphoproliferative syndrome semapv:MappingInversion +MONDO:0017979 autoimmune lymphoproliferative syndrome skos:closeMatch NANDO:2200726 Autoimmune lymphoproliferative syndrome semapv:MappingInversion +MONDO:0017986 disorder of plasmalogens biosynthesis skos:closeMatch NANDO:1200770 Plasmalogen biosynthesis enzyme deficiency semapv:MappingInversion +MONDO:0017987 syringomyelia skos:closeMatch NANDO:1200506 Syringomyelia semapv:MappingInversion +MONDO:0017987 syringomyelia skos:closeMatch NANDO:1200507 Symptomatic syringomyelia semapv:MappingInversion +MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia skos:closeMatch NANDO:2200216 Polymorphic ventricular premature beat semapv:MappingInversion +MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia skos:closeMatch NANDO:2200221 Catecholaminergic polymorphic ventricular tachycardia semapv:MappingInversion +MONDO:0017991 Takayasu arteritis skos:closeMatch NANDO:1200251 Takayasu arteritis semapv:MappingInversion +MONDO:0017991 Takayasu arteritis skos:closeMatch NANDO:2200423 Takayasu arteritis semapv:MappingInversion +MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration skos:closeMatch NANDO:1200541 Fatty acid hydroxylase-associated neurodegeneration semapv:MappingInversion +MONDO:0018018 wild type ATTR amyloidosis skos:closeMatch NANDO:1200212 Transthyretin-related senile systemic amyloidosis semapv:MappingInversion +MONDO:0018029 congenital factor XIII deficiency skos:closeMatch NANDO:2200681 Factor XIII deficiency semapv:MappingInversion +MONDO:0018035 obsolete syndrome with combined immunodeficiency skos:closeMatch NANDO:2100203 Combined immunodeficiency semapv:MappingInversion +MONDO:0018037 hyper-IgE syndrome skos:closeMatch NANDO:1200340 Hyper-IgE syndrome semapv:MappingInversion +MONDO:0018037 hyper-IgE syndrome skos:closeMatch NANDO:2200713 Hyper-IgE syndrome semapv:MappingInversion +MONDO:0018048 heparin-induced thrombocytopenia skos:closeMatch NANDO:2200648 Heparin-induced thrombocytopenia semapv:MappingInversion +MONDO:0018053 trichothiodystrophy skos:closeMatch NANDO:1200627 Trichothiodystrophy semapv:MappingInversion +MONDO:0018065 isolated trigonocephaly skos:closeMatch NANDO:2201305 Non-syndromic metopic craniosynostosis semapv:MappingInversion +MONDO:0018068 trisomy 13 skos:closeMatch NANDO:2200964 Trisomy 13 semapv:MappingInversion +MONDO:0018071 trisomy 18 skos:closeMatch NANDO:2200963 Trisomy 18 semapv:MappingInversion +MONDO:0018072 persistent truncus arteriosus skos:closeMatch NANDO:1200693 Truncus arteriosus communis semapv:MappingInversion +MONDO:0018072 persistent truncus arteriosus skos:closeMatch NANDO:2200261 Truncus arteriosus communis semapv:MappingInversion +MONDO:0018088 familial Mediterranean fever skos:closeMatch NANDO:1200863 Familial Mediterranean fever semapv:MappingInversion +MONDO:0018088 familial Mediterranean fever skos:closeMatch NANDO:2200431 Familial Mediterranean fever semapv:MappingInversion +MONDO:0018089 double outlet right ventricle skos:closeMatch NANDO:1200710 Double outlet right ventricle semapv:MappingInversion +MONDO:0018089 double outlet right ventricle skos:closeMatch NANDO:2100076 Double outlet right ventricle semapv:MappingInversion +MONDO:0018089 double outlet right ventricle skos:closeMatch NANDO:2200256 Double outlet right ventricle semapv:MappingInversion +MONDO:0018090 double outlet left ventricle skos:closeMatch NANDO:2100077 Double-outlet left ventricle semapv:MappingInversion +MONDO:0018090 double outlet left ventricle skos:closeMatch NANDO:2200257 Double-outlet left ventricle semapv:MappingInversion +MONDO:0018097 West syndrome skos:closeMatch NANDO:1200592 West syndrome semapv:MappingInversion +MONDO:0018097 West syndrome skos:closeMatch NANDO:2200878 West syndrome semapv:MappingInversion +MONDO:0018105 Wolfram syndrome skos:closeMatch NANDO:1200757 Wolfram syndrome semapv:MappingInversion +MONDO:0018112 isolated scaphocephaly skos:closeMatch NANDO:2201302 Non-syndromic sagittal craniosynostosis semapv:MappingInversion +MONDO:0018149 GM1 gangliosidosis skos:closeMatch NANDO:1200066 GM1 gangliosidosis semapv:MappingInversion +MONDO:0018149 GM1 gangliosidosis skos:closeMatch NANDO:2200558 GM1 Gangliosidosis semapv:MappingInversion +MONDO:0018150 Gaucher disease skos:closeMatch NANDO:1200056 Gaucher disease semapv:MappingInversion +MONDO:0018150 Gaucher disease skos:closeMatch NANDO:2200562 Gaucher disease semapv:MappingInversion +MONDO:0018153 Erdheim-Chester disease skos:closeMatch NANDO:2200038 Erdheim-Chester disease semapv:MappingInversion +MONDO:0018155 lateral sclerosis skos:closeMatch NANDO:1200008 Primary lateral sclerosis semapv:MappingInversion +MONDO:0018158 mitochondrial DNA depletion syndrome skos:closeMatch NANDO:2200523 Mitochondrial DNA depletion syndrome semapv:MappingInversion +MONDO:0018158 mitochondrial DNA depletion syndrome skos:closeMatch NANDO:2200528 Diseases due to mitochondrial DNA deletion semapv:MappingInversion +MONDO:0018170 idiopathic nephrotic syndrome skos:closeMatch NANDO:1200719 Primary nephrotic syndrome semapv:MappingInversion +MONDO:0018175 combined deficiency of factor V and factor VIII skos:closeMatch NANDO:2200686 Combined deficiency of coagulation factors V and VIII semapv:MappingInversion +MONDO:0018177 glioblastoma skos:closeMatch NANDO:2200087 Glioblastoma semapv:MappingInversion +MONDO:0018178 intestinal lymphangiectasia skos:closeMatch NANDO:2100256 Intestinal lymphangiectasia semapv:MappingInversion +MONDO:0018178 intestinal lymphangiectasia skos:closeMatch NANDO:2200914 Intestinal lymphangiectasia semapv:MappingInversion +MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion skos:closeMatch NANDO:1200552 Acute encephalopathy with biphasic seizures and late reduced diffusion semapv:MappingInversion +MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion skos:closeMatch NANDO:2100247 Acute encephalopathy with biphasic seizures and late reduced diffusion semapv:MappingInversion +MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion skos:closeMatch NANDO:2200901 Acute encephalopathy with biphasic seizures and late reduced diffusion semapv:MappingInversion +MONDO:0018209 Alexander disease type I skos:closeMatch NANDO:1200555 Alexander disease type I semapv:MappingInversion +MONDO:0018210 Alexander disease type II skos:closeMatch NANDO:1200556 Alexander disease type II semapv:MappingInversion +MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch NANDO:1200245 Stevens-Johnson syndrome semapv:MappingInversion +MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch NANDO:2100290 Stevens-Johnson syndrome semapv:MappingInversion +MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch NANDO:2201006 Stevens-Johnson syndrome semapv:MappingInversion +MONDO:0018240 TRPV4-related bone disorder skos:closeMatch NANDO:2201021 Transient receptor potential cation channel, vanilloid subfamily, member 4 -associated disorders semapv:MappingInversion +MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency skos:closeMatch NANDO:1201020 Hepatic glycogen storage disease type IX semapv:MappingInversion +MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency skos:closeMatch NANDO:2200544 Glycogen storage disease type IX semapv:MappingInversion +MONDO:0018271 peripheral primitive neuroectodermal tumor skos:closeMatch NANDO:2200054 Primitive neuroectodermal tumors semapv:MappingInversion +MONDO:0018271 peripheral primitive neuroectodermal tumor skos:closeMatch NANDO:2200055 Peripheral primitive neuroectodermal tumors semapv:MappingInversion +MONDO:0018301 interstitial cystitis skos:closeMatch NANDO:1200743 Interstitial cystitis (Hunner type) semapv:MappingInversion +MONDO:0018305 chronic granulomatous disease skos:closeMatch NANDO:1200357 Chronic granulomatous disease semapv:MappingInversion +MONDO:0018305 chronic granulomatous disease skos:closeMatch NANDO:2200757 Chronic granulomatous disease semapv:MappingInversion +MONDO:0018306 Griscelli syndrome skos:closeMatch NANDO:1200640 Griscelli syndrome semapv:MappingInversion +MONDO:0018307 neurodegeneration with brain iron accumulation skos:closeMatch NANDO:2100241 Neurodegeneration with brain iron accumulation semapv:MappingInversion +MONDO:0018309 Hirschsprung disease skos:closeMatch NANDO:1200903 Hirschsprung disease semapv:MappingInversion +MONDO:0018309 Hirschsprung disease skos:closeMatch NANDO:2200945 Hirschsprung disease semapv:MappingInversion +MONDO:0018309 Hirschsprung disease skos:closeMatch NANDO:2200948 Congenital Isolated Hypoganglionosis semapv:MappingInversion +MONDO:0018310 Langerhans cell histiocytosis skos:closeMatch NANDO:2200031 Langerhans cell histiocytosis semapv:MappingInversion +MONDO:0018328 homozygous familial hypercholesterolemia skos:closeMatch NANDO:1200394 Homozygous familial hypercholesterolemia semapv:MappingInversion +MONDO:0018328 homozygous familial hypercholesterolemia skos:closeMatch NANDO:2201255 Homozygous familial hypercholesterolemia semapv:MappingInversion +MONDO:0018348 obsolete polyglucosan body myopathy type 1 skos:closeMatch NANDO:2200456 RBCK1 deficiency semapv:MappingInversion +MONDO:0018438 eosinophilic gastrointestinal disease skos:closeMatch NANDO:1200454 Eosinophilic gastrointestinal disorders semapv:MappingInversion +MONDO:0018438 eosinophilic gastrointestinal disease skos:closeMatch NANDO:2200807 Eosinophilic gastrointestinal disorders semapv:MappingInversion +MONDO:0018467 nephropathic infantile cystinosis skos:closeMatch NANDO:1200162 Nephropathic cystinosis semapv:MappingInversion +MONDO:0018467 nephropathic infantile cystinosis skos:closeMatch NANDO:2201234 Nephropathic cystinosis semapv:MappingInversion +MONDO:0018470 renal agenesis skos:closeMatch NANDO:2200156 Renal aplasia semapv:MappingInversion +MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch NANDO:1200396 Congenital adrenal enzyme deficiency semapv:MappingInversion +MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch NANDO:1200397 Congenital lipoid adrenal hyperplasia semapv:MappingInversion +MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch NANDO:2100134 Congenital adrenal hyperplasia semapv:MappingInversion +MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch NANDO:2200370 Congenital lipoid adrenal hyperplasia semapv:MappingInversion +MONDO:0018483 secondary pulmonary alveolar proteinosis skos:closeMatch NANDO:1200749 Secondary Pulmonary Alveolar Proteinosis semapv:MappingInversion +MONDO:0018542 severe congenital neutropenia skos:closeMatch NANDO:1200353 Severe congenital neutropenia semapv:MappingInversion +MONDO:0018542 severe congenital neutropenia skos:closeMatch NANDO:2200745 Severe congenital neutropenia semapv:MappingInversion +MONDO:0018544 adrenoleukodystrophy skos:closeMatch NANDO:1200165 Adrenoleukodystrophy semapv:MappingInversion +MONDO:0018544 adrenoleukodystrophy skos:closeMatch NANDO:2200576 Adrenoleukodystrophy semapv:MappingInversion +MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis skos:closeMatch NANDO:1200426 Pulmonary veno-occlusive disease / pulmonary capillary hemangiomatosis semapv:MappingInversion +MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis skos:closeMatch NANDO:1200428 Pulmonary capillary hemangiomatosis semapv:MappingInversion +MONDO:0018555 hypogonadotropic hypogonadism skos:closeMatch NANDO:1200388 Hypogonadotropic hypogonadism semapv:MappingInversion +MONDO:0018555 hypogonadotropic hypogonadism skos:closeMatch NANDO:2100138 Hypogonadotropic hypogonadism semapv:MappingInversion +MONDO:0018555 hypogonadotropic hypogonadism skos:closeMatch NANDO:2200382 Hypogonadotropic hypogonadism semapv:MappingInversion +MONDO:0018570 hypophosphatasia skos:closeMatch NANDO:1200656 Hypophosphatasia semapv:MappingInversion +MONDO:0018570 hypophosphatasia skos:closeMatch NANDO:2201012 Hypophosphatasia semapv:MappingInversion +MONDO:0018598 obsolete neonatal adrenoleukodystrophy skos:closeMatch NANDO:1200761 Neonatal adrenoleukodystrophy semapv:MappingInversion +MONDO:0018612 congenital hypothyroidism skos:closeMatch NANDO:2200333 Congenital hypothyroidism semapv:MappingInversion +MONDO:0018620 hypothalamic adipsic hypernatraemia syndrome skos:closeMatch NANDO:2200325 Adipsic hypernatremia semapv:MappingInversion +MONDO:0018638 pseudohypoaldosteronism skos:closeMatch NANDO:2100133 Pseudohypoaldosteronism semapv:MappingInversion +MONDO:0018638 pseudohypoaldosteronism skos:closeMatch NANDO:2200367 Pseudohypoaldosteronism semapv:MappingInversion +MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria skos:closeMatch NANDO:1200300 Aplastic anemia-paroxysmal nocturnal hemoglobinuria syndrome semapv:MappingInversion +MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria skos:closeMatch NANDO:1200311 Paroxysmal nocturnal hemoglobinuria semapv:MappingInversion +MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria skos:closeMatch NANDO:2100182 Paroxysmal nocturnal haemoglobinuria semapv:MappingInversion +MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria skos:closeMatch NANDO:2200621 Paroxysmal nocturnal hemoglobinuria semapv:MappingInversion +MONDO:0018645 IgG4-related sclerosing cholangitis skos:closeMatch NANDO:1200928 IgG4-related sclerosing cholangitis semapv:MappingInversion +MONDO:0018646 sclerosing cholangitis skos:closeMatch NANDO:1200440 Primary sclerosing cholangitis semapv:MappingInversion +MONDO:0018646 sclerosing cholangitis skos:closeMatch NANDO:2100265 Primary sclerosing cholangitis semapv:MappingInversion +MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome skos:closeMatch NANDO:1200583 Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum semapv:MappingInversion +MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome skos:closeMatch NANDO:2201295 Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum semapv:MappingInversion +MONDO:0018666 hepatoblastoma skos:closeMatch NANDO:2200046 Hepatoblastoma semapv:MappingInversion +MONDO:0018671 IgG4-related kidney disease skos:closeMatch NANDO:1200930 IgG4-related kidney disease semapv:MappingInversion +MONDO:0018686 acquired Creutzfeldt-Jakob disease skos:closeMatch NANDO:1200192 Environmentally acquired Creutzfeldt-Jakob disease semapv:MappingInversion +MONDO:0018737 catastrophic antiphospholipid syndrome skos:closeMatch NANDO:1200270 Catastrophic antiphospholipid syndrome semapv:MappingInversion +MONDO:0018746 mucous membrane pemphigoid skos:closeMatch NANDO:1200634 Mucous membrane pemphigoid semapv:MappingInversion +MONDO:0018747 acquired epidermolysis bullosa skos:closeMatch NANDO:1200635 Epidermolysis bullosa acquisita semapv:MappingInversion +MONDO:0018762 non-acquired combined pituitary hormone deficiency skos:closeMatch NANDO:2200312 Congenital hypopituitarism semapv:MappingInversion +MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene skos:closeMatch NANDO:2100261 Chronic nonspecific multiple ulcers of the small intestine semapv:MappingInversion +MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene skos:closeMatch NANDO:2200925 Chronic nonspecific multiple ulcers of the small intestine semapv:MappingInversion +MONDO:0018768 familial cold autoinflammatory syndrome skos:closeMatch NANDO:1200466 Familial cold autoinflammatorysyndrome semapv:MappingInversion +MONDO:0018768 familial cold autoinflammatory syndrome skos:closeMatch NANDO:2200449 NLRP12-associated periodic syndrome semapv:MappingInversion +MONDO:0018768 familial cold autoinflammatory syndrome skos:closeMatch NANDO:2200454 NLRP12-associated periodic syndrome semapv:MappingInversion +MONDO:0018768 familial cold autoinflammatory syndrome skos:closeMatch NANDO:2201068 familial cold autoinflammatory syndrome semapv:MappingInversion +MONDO:0018778 intermediate Charcot-Marie-Tooth disease skos:closeMatch NANDO:1200019 Intermediate Charcot-Marie-Tooth disease semapv:MappingInversion +MONDO:0018781 KID syndrome skos:closeMatch NANDO:1200621 Keratitis-ichthyosis-deafness syndrome semapv:MappingInversion +MONDO:0018781 KID syndrome skos:closeMatch NANDO:2200996 Keratitis-ichthyosis-deafness syndrome semapv:MappingInversion +MONDO:0018800 Kallmann syndrome skos:closeMatch NANDO:2200381 Kallmann syndrome semapv:MappingInversion +MONDO:0018808 Caroli syndrome skos:closeMatch NANDO:2200934 Caroli disease semapv:MappingInversion +MONDO:0018824 pyoderma gangrenosum skos:closeMatch NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome semapv:MappingInversion +MONDO:0018838 lissencephaly spectrum disorders skos:closeMatch NANDO:1200574 Neuronal migration defects semapv:MappingInversion +MONDO:0018838 lissencephaly spectrum disorders skos:closeMatch NANDO:2200817 Lissencephaly semapv:MappingInversion +MONDO:0018840 isolated congenital hepatic fibrosis skos:closeMatch NANDO:2100267 Congenital hepatic fibrosis semapv:MappingInversion +MONDO:0018840 isolated congenital hepatic fibrosis skos:closeMatch NANDO:2200936 Congenital hepatic fibrosis semapv:MappingInversion +MONDO:0018866 Aicardi-Goutieres syndrome skos:closeMatch NANDO:1200996 Aicardi-Goutières Syndrome semapv:MappingInversion +MONDO:0018866 Aicardi-Goutieres syndrome skos:closeMatch NANDO:2100244 Aicardi-Goutières Syndrome semapv:MappingInversion +MONDO:0018866 Aicardi-Goutieres syndrome skos:closeMatch NANDO:2200893 Aicardi-Goutières Syndrome semapv:MappingInversion +MONDO:0018868 metachromatic leukodystrophy skos:closeMatch NANDO:1200078 Metachromatic leukodystrophy semapv:MappingInversion +MONDO:0018868 metachromatic leukodystrophy skos:closeMatch NANDO:2200560 Metachromatic leukodystrophy semapv:MappingInversion +MONDO:0018869 cobblestone lissencephaly skos:closeMatch NANDO:1201072 Cobblestone brain malformation semapv:MappingInversion +MONDO:0018872 acute megakaryoblastic leukemia skos:closeMatch NANDO:2200011 Acute megakaryoblastic leukemia semapv:MappingInversion +MONDO:0018878 branchiootic syndrome skos:closeMatch NANDO:1200675 Branchio-oto-renal syndrome semapv:MappingInversion +MONDO:0018881 myelodysplastic syndrome skos:closeMatch NANDO:2100003 Myelodysplastic syndrome semapv:MappingInversion +MONDO:0018881 myelodysplastic syndrome skos:closeMatch NANDO:2200019 Myelodysplastic syndrome semapv:MappingInversion +MONDO:0018883 Berardinelli-Seip congenital lipodystrophy skos:closeMatch NANDO:1200859 Generalized congenital lipodystrophy semapv:MappingInversion +MONDO:0018883 Berardinelli-Seip congenital lipodystrophy skos:closeMatch NANDO:2200465 Lipoatrophic diabetes semapv:MappingInversion +MONDO:0018896 thrombotic thrombocytopenic purpura skos:closeMatch NANDO:1200316 Thrombotic thrombocytopenic purpura semapv:MappingInversion +MONDO:0018896 thrombotic thrombocytopenic purpura skos:closeMatch NANDO:2100189 Thrombotic thrombocytopenic purpura semapv:MappingInversion +MONDO:0018896 thrombotic thrombocytopenic purpura skos:closeMatch NANDO:2200649 Thrombotic thrombocytopenic purpura semapv:MappingInversion +MONDO:0018901 left ventricular noncompaction skos:closeMatch NANDO:2200231 Non-compaction of the ventricle semapv:MappingInversion +MONDO:0018904 primary membranoproliferative glomerulonephritis skos:closeMatch NANDO:1200725 Primary membranoproliferative glomerulonephritis semapv:MappingInversion +MONDO:0018904 primary membranoproliferative glomerulonephritis skos:closeMatch NANDO:2200123 Membranoproliferative glomerulonephritis semapv:MappingInversion +MONDO:0018907 craniopharyngioma skos:closeMatch NANDO:2200091 Craniopharyngioma semapv:MappingInversion +MONDO:0018910 oculocutaneous albinism skos:closeMatch NANDO:1200637 Oculocutaneous albinism semapv:MappingInversion +MONDO:0018910 oculocutaneous albinism skos:closeMatch NANDO:1200641 Non-syndromic oculocutaneous albinism semapv:MappingInversion +MONDO:0018910 oculocutaneous albinism skos:closeMatch NANDO:2200986 Oculocutaneous albinism semapv:MappingInversion +MONDO:0018911 maturity-onset diabetes of the young skos:closeMatch NANDO:2200462 Maturity-onset diabetes of the young semapv:MappingInversion +MONDO:0018919 McCune-Albright syndrome skos:closeMatch NANDO:2200412 McCune-Albright syndrome semapv:MappingInversion +MONDO:0018922 cold agglutinin disease skos:closeMatch NANDO:1200307 Cold agglutinin disease semapv:MappingInversion +MONDO:0018922 cold agglutinin disease skos:closeMatch NANDO:2200618 Cold agglutinin disease semapv:MappingInversion +MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch NANDO:1200339 Thymus hypoplasia semapv:MappingInversion +MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch NANDO:1200688 22q11.2 deletion syndrome semapv:MappingInversion +MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch NANDO:2200712 Thymus hypoplasia semapv:MappingInversion +MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch NANDO:1200125 Mucolipidosis III semapv:MappingInversion +MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch NANDO:2200568 Mucolipidosis III semapv:MappingInversion +MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch NANDO:1200100 Sanfilippo disease semapv:MappingInversion +MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch NANDO:2200549 Mucopolysaccharidosis type III semapv:MappingInversion +MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch NANDO:1200105 Morquio syndrome semapv:MappingInversion +MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch NANDO:2200550 Mucopolysaccharidosis type IV semapv:MappingInversion +MONDO:0018940 congenital myasthenic syndrome skos:closeMatch NANDO:1200021 Congenital myasthenic syndrome semapv:MappingInversion +MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:closeMatch NANDO:1200015 McLeod syndrome semapv:MappingInversion +MONDO:0018947 centronuclear myopathy skos:closeMatch NANDO:1200481 Myotubular myopathy semapv:MappingInversion +MONDO:0018947 centronuclear myopathy skos:closeMatch NANDO:1200482 Centronuclear myopathy semapv:MappingInversion +MONDO:0018947 centronuclear myopathy skos:closeMatch NANDO:2200867 Myotubular myopathy semapv:MappingInversion +MONDO:0018948 multiminicore myopathy skos:closeMatch NANDO:1200480 Minicore myopathy semapv:MappingInversion +MONDO:0018948 multiminicore myopathy skos:closeMatch NANDO:2200871 Multicore disease semapv:MappingInversion +MONDO:0018949 distal myopathy skos:closeMatch NANDO:1200216 Distal myopathy semapv:MappingInversion +MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency skos:closeMatch NANDO:2200495 3-methylcrotonyl-CoA carboxylase deficiency semapv:MappingInversion +MONDO:0018954 Loeys-Dietz syndrome skos:closeMatch NANDO:2200969 Loeys-Dietz syndrome semapv:MappingInversion +MONDO:0018958 nemaline myopathy skos:closeMatch NANDO:1200478 Nemaline myopathy semapv:MappingInversion +MONDO:0018958 nemaline myopathy skos:closeMatch NANDO:2200869 Nemaline myopathy semapv:MappingInversion +MONDO:0018959 potassium-aggravated myotonia skos:closeMatch NANDO:1200500 Sodium channel myotonia semapv:MappingInversion +MONDO:0018960 congenital primary megaureter skos:closeMatch NANDO:2200184 Megaureter semapv:MappingInversion +MONDO:0018965 Alport syndrome skos:closeMatch NANDO:1200712 Alport's syndrome semapv:MappingInversion +MONDO:0018965 Alport syndrome skos:closeMatch NANDO:2200126 Alport syndrome semapv:MappingInversion +MONDO:0018974 paraneoplastic pemphigus skos:closeMatch NANDO:1200231 Paraneoplastic pemphigus semapv:MappingInversion +MONDO:0018975 neurofibromatosis type 1 skos:closeMatch NANDO:1200225 Neurofibromatosis semapv:MappingInversion +MONDO:0018975 neurofibromatosis type 1 skos:closeMatch NANDO:1200226 Neurofibromatosis type 1 semapv:MappingInversion +MONDO:0018975 neurofibromatosis type 1 skos:closeMatch NANDO:2100287 von Recklinghausen's disease semapv:MappingInversion +MONDO:0018975 neurofibromatosis type 1 skos:closeMatch NANDO:2201003 von Recklinghausen's disease semapv:MappingInversion +MONDO:0018979 multifocal motor neuropathy skos:closeMatch NANDO:1200031 Multifocal motor neuropathy semapv:MappingInversion +MONDO:0018982 Niemann-Pick disease type C skos:closeMatch NANDO:1200063 Niemann-Pick disease type C semapv:MappingInversion +MONDO:0018993 Charcot-Marie-Tooth disease type 2 skos:closeMatch NANDO:1200018 Charcot-Marie-Tooth disease type 2 semapv:MappingInversion +MONDO:0018997 Noonan syndrome skos:closeMatch NANDO:1200680 Noonan syndrome semapv:MappingInversion +MONDO:0018997 Noonan syndrome skos:closeMatch NANDO:2200413 Noonan syndrome semapv:MappingInversion +MONDO:0018999 LCAT deficiency skos:closeMatch NANDO:1200852 Lecithin cholesterol acyltransferase deficiency semapv:MappingInversion +MONDO:0019003 multiple endocrine neoplasia type 2 skos:closeMatch NANDO:2200406 Multiple endocrine neoplasia type 2 semapv:MappingInversion +MONDO:0019004 kidney Wilms tumor skos:closeMatch NANDO:2200043 Wilms tumour semapv:MappingInversion +MONDO:0019005 nephronophthisis skos:closeMatch NANDO:1201036 Nephronophthisis semapv:MappingInversion +MONDO:0019005 nephronophthisis skos:closeMatch NANDO:2100015 Nephronophthisis semapv:MappingInversion +MONDO:0019005 nephronophthisis skos:closeMatch NANDO:2200140 Nephronophthisis semapv:MappingInversion +MONDO:0019005 nephronophthisis skos:closeMatch NANDO:2200170 Medullary cystic kidney semapv:MappingInversion +MONDO:0019009 isolated focal cortical dysplasia skos:closeMatch NANDO:1200564 Focal cortical dysplasia semapv:MappingInversion +MONDO:0019011 Charcot-Marie-Tooth disease type 1 skos:closeMatch NANDO:1200017 Charcot-Marie-Tooth disease type 1 semapv:MappingInversion +MONDO:0019012 Carpenter syndrome skos:closeMatch NANDO:2200847 Carpenter syndrome semapv:MappingInversion +MONDO:0019019 osteogenesis imperfecta skos:closeMatch NANDO:1200873 Osteogenesis imperfecta semapv:MappingInversion +MONDO:0019019 osteogenesis imperfecta skos:closeMatch NANDO:2201011 Osteogenesis imperfecta semapv:MappingInversion +MONDO:0019029 segmental odontomaxillary dysplasia skos:closeMatch NANDO:1200561 Septo-optic dysplasia semapv:MappingInversion +MONDO:0019035 pancreatoblastoma skos:closeMatch NANDO:2200082 Pancreatoblastoma semapv:MappingInversion +MONDO:0019037 progressive supranuclear palsy skos:closeMatch NANDO:1200009 Progressive supranuclear palsy semapv:MappingInversion +MONDO:0019040 chromosomal disorder skos:closeMatch NANDO:1100014 Chromosome abnormality semapv:MappingInversion +MONDO:0019040 chromosomal disorder skos:closeMatch NANDO:2100279 Chromosome abnormality semapv:MappingInversion +MONDO:0019040 chromosomal disorder skos:closeMatch NANDO:2100280 Chromosome abnormality semapv:MappingInversion +MONDO:0019046 leukodystrophy skos:closeMatch NANDO:1200575 Congenital hypomyelinating leukodystrophy semapv:MappingInversion +MONDO:0019046 leukodystrophy skos:closeMatch NANDO:2200836 Congenital hypomyelinating leukodystrophy semapv:MappingInversion +MONDO:0019052 inborn errors of metabolism skos:closeMatch NANDO:2100159 Inborn errors of metabolism semapv:MappingInversion +MONDO:0019053 peroxisomal disease skos:closeMatch NANDO:1200758 Peroxisomal disorder semapv:MappingInversion +MONDO:0019053 peroxisomal disease skos:closeMatch NANDO:2100166 Peroxisomal disorder semapv:MappingInversion +MONDO:0019056 neuromuscular disease skos:closeMatch NANDO:1100001 Neuromuscular disease semapv:MappingInversion +MONDO:0019056 neuromuscular disease skos:closeMatch NANDO:2100214 Neuromuscular disease semapv:MappingInversion +MONDO:0019064 hereditary spastic paraplegia skos:closeMatch NANDO:1200052 Hereditary spastic paraplegia semapv:MappingInversion +MONDO:0019065 amyloidosis skos:closeMatch NANDO:2200138 Amyloid nephropathy semapv:MappingInversion +MONDO:0019079 proximal spinal muscular atrophy skos:closeMatch NANDO:2100231 Spinal muscular atrophy semapv:MappingInversion +MONDO:0019082 bullous pemphigoid skos:closeMatch NANDO:1200632 Pemphigoid (including Epidermolysis bullosa acquisita) semapv:MappingInversion +MONDO:0019082 bullous pemphigoid skos:closeMatch NANDO:1200633 Bullous pemphigoid semapv:MappingInversion +MONDO:0019100 neuromyelitis optica skos:closeMatch NANDO:1200027 Neuromyelitis optica spectrum disorders semapv:MappingInversion +MONDO:0019100 neuromyelitis optica skos:closeMatch NANDO:2201322 Neuromyelitis optica semapv:MappingInversion +MONDO:0019123 continuous spikes and waves during sleep skos:closeMatch NANDO:1200601 Epileptic encephalopathy with continuous spike-and-wave during sleep semapv:MappingInversion +MONDO:0019124 microscopic polyangiitis skos:closeMatch NANDO:1200262 Microscopic polyangiitis semapv:MappingInversion +MONDO:0019124 microscopic polyangiitis skos:closeMatch NANDO:2200426 Microscopic polyangiitis semapv:MappingInversion +MONDO:0019125 relapsing polychondritis skos:closeMatch NANDO:1200283 Relapsing polychondritis semapv:MappingInversion +MONDO:0019125 relapsing polychondritis skos:closeMatch NANDO:2100154 Relapsing Polychondritis semapv:MappingInversion +MONDO:0019125 relapsing polychondritis skos:closeMatch NANDO:2200428 Relapsing polychondritis semapv:MappingInversion +MONDO:0019127 polymyositis skos:closeMatch NANDO:1200276 Polymyositis semapv:MappingInversion +MONDO:0019139 acquired hemophilia skos:closeMatch NANDO:1200898 Acquired hemophilia A semapv:MappingInversion +MONDO:0019142 inherited porphyria skos:closeMatch NANDO:2200610 Congenital porphyria semapv:MappingInversion +MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency skos:closeMatch NANDO:1201080 Protein C deficiency semapv:MappingInversion +MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency skos:closeMatch NANDO:2100197 Protein C deficiency semapv:MappingInversion +MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency skos:closeMatch NANDO:2200689 Protein C deficiency semapv:MappingInversion +MONDO:0019146 inherited susceptibility to mycobacterial diseases skos:closeMatch NANDO:1200359 Mendelian susceptibility to mycobacterial disease semapv:MappingInversion +MONDO:0019146 inherited susceptibility to mycobacterial diseases skos:closeMatch NANDO:2200759 Mendelian susceptibility to mycobacterial disease semapv:MappingInversion +MONDO:0019148 Wolman disease skos:closeMatch NANDO:1200142 Acid lipase deficiency semapv:MappingInversion +MONDO:0019148 Wolman disease skos:closeMatch NANDO:1200143 Wolman disease semapv:MappingInversion +MONDO:0019148 Wolman disease skos:closeMatch NANDO:2200570 Acid lipase deficiency semapv:MappingInversion +MONDO:0019148 Wolman disease skos:closeMatch NANDO:2201232 Wolman disease semapv:MappingInversion +MONDO:0019149 cholesteryl ester storage disease skos:closeMatch NANDO:1200144 Cholesterol ester storage disease semapv:MappingInversion +MONDO:0019149 cholesteryl ester storage disease skos:closeMatch NANDO:2201233 Cholesterol ester storage disease semapv:MappingInversion +MONDO:0019154 androgen insensitivity syndrome skos:closeMatch NANDO:2200391 Androgen insensitivity syndrome semapv:MappingInversion +MONDO:0019161 pseudohypoaldosteronism type 1 skos:closeMatch NANDO:2200368 Pseudohypoaldosteronism type I semapv:MappingInversion +MONDO:0019162 pseudohypoaldosteronism type 2 skos:closeMatch NANDO:2200369 Pseudohypoaldosteronism type II semapv:MappingInversion +MONDO:0019165 central precocious puberty skos:closeMatch NANDO:1200381 Central precocious puberty semapv:MappingInversion +MONDO:0019165 central precocious puberty skos:closeMatch NANDO:2200377 Gonadotropin-dependent precocious puberty semapv:MappingInversion +MONDO:0019169 pyruvate dehydrogenase deficiency skos:closeMatch NANDO:2200518 Pyruvate dehydrogenase complex deficiency semapv:MappingInversion +MONDO:0019170 polyarteritis nodosa skos:closeMatch NANDO:1200261 Polyarteritis nodosa semapv:MappingInversion +MONDO:0019170 polyarteritis nodosa skos:closeMatch NANDO:2200425 Polyangiitis nodosa semapv:MappingInversion +MONDO:0019171 familial long QT syndrome skos:closeMatch NANDO:2200228 Long qt syndrome semapv:MappingInversion +MONDO:0019172 aniridia skos:closeMatch NANDO:1201001 Aniridia semapv:MappingInversion +MONDO:0019174 obsolete infantile Refsum disease skos:closeMatch NANDO:1200762 Infantile Refsum disease semapv:MappingInversion +MONDO:0019175 primary lymphedema skos:closeMatch NANDO:2201031 Primary lymphedema semapv:MappingInversion +MONDO:0019180 hereditary hemorrhagic telangiectasia skos:closeMatch NANDO:1200744 Osler disease semapv:MappingInversion +MONDO:0019180 hereditary hemorrhagic telangiectasia skos:closeMatch NANDO:2100296 Hereditary hemorrhagic telangiectasia semapv:MappingInversion +MONDO:0019180 hereditary hemorrhagic telangiectasia skos:closeMatch NANDO:2201034 Hereditary hemorrhagic telangiectasia semapv:MappingInversion +MONDO:0019188 Rubinstein-Taybi syndrome skos:closeMatch NANDO:1200461 Rubinstein-Taybi syndrome semapv:MappingInversion +MONDO:0019188 Rubinstein-Taybi syndrome skos:closeMatch NANDO:2200955 Rubinstein-Taybi syndrome semapv:MappingInversion +MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis skos:closeMatch NANDO:1200929 IgG4-related dacryoadenitis and sialadenitis semapv:MappingInversion +MONDO:0019193 acquired generalized lipodystrophy skos:closeMatch NANDO:1200860 Acquired generalized lipodystrophy semapv:MappingInversion +MONDO:0019200 retinitis pigmentosa skos:closeMatch NANDO:1200431 Retinitis pigmentosa semapv:MappingInversion +MONDO:0019203 acute interstitial pneumonia skos:closeMatch NANDO:1200420 Acute interstitial pneumonia semapv:MappingInversion +MONDO:0019208 Bickerstaff brainstem encephalitis skos:closeMatch NANDO:1200551 Bickerstaff's brainstem encephalitis semapv:MappingInversion +MONDO:0019214 inborn carbohydrate metabolic disorder skos:closeMatch NANDO:2100164 Disorder of carbohydrate metabolism semapv:MappingInversion +MONDO:0019218 inborn disorder of bile acid synthesis skos:closeMatch NANDO:2200506 Inborn errors of bile acid metabolism semapv:MappingInversion +MONDO:0019233 disorder of peroxisomal beta oxidation skos:closeMatch NANDO:1200764 Peroxisomal beta-oxidation enzyme deficiency semapv:MappingInversion +MONDO:0019234 peroxisome biogenesis disorder skos:closeMatch NANDO:1200759 Peroxisome biogenesis disorders semapv:MappingInversion +MONDO:0019234 peroxisome biogenesis disorder skos:closeMatch NANDO:2200575 Peroxisome biogenesis disorders semapv:MappingInversion +MONDO:0019260 adult neuronal ceroid lipofuscinosis skos:closeMatch NANDO:1200155 Adult neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0019260 adult neuronal ceroid lipofuscinosis skos:closeMatch NANDO:2201244 Adult neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0019261 infantile neuronal ceroid lipofuscinosis skos:closeMatch NANDO:1200152 Infantile neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0019261 infantile neuronal ceroid lipofuscinosis skos:closeMatch NANDO:2201241 Infantile neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0019262 juvenile neuronal ceroid lipofuscinosis skos:closeMatch NANDO:1200154 Juvenile neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0019262 juvenile neuronal ceroid lipofuscinosis skos:closeMatch NANDO:2201243 Juvenile neuronal ceroid lipofuscinosis semapv:MappingInversion +MONDO:0019263 autosomal erythropoietic protoporphyria skos:closeMatch NANDO:1200815 Erythropoietic protoporphyria semapv:MappingInversion +MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 skos:closeMatch NANDO:1200137 Schindler disease type 3 semapv:MappingInversion +MONDO:0019269 ichthyosis skos:closeMatch NANDO:1200618 Ichthyosis syndrome semapv:MappingInversion +MONDO:0019306 congenital non-bullous ichthyosiform erythroderma skos:closeMatch NANDO:1200616 Congenital ichthyosiform erythroderma semapv:MappingInversion +MONDO:0019306 congenital non-bullous ichthyosiform erythroderma skos:closeMatch NANDO:1200617 Lamellar ichthyosis semapv:MappingInversion +MONDO:0019312 Hermansky-Pudlak syndrome skos:closeMatch NANDO:1200638 Hermansky-Pudlak syndrome semapv:MappingInversion +MONDO:0019322 pemphigus vegetans skos:closeMatch NANDO:1200232 Pemphigus vegetans semapv:MappingInversion +MONDO:0019323 pemphigus erythematosus skos:closeMatch NANDO:1200233 Pemphigus erythematosus semapv:MappingInversion +MONDO:0019324 pemphigus foliaceus skos:closeMatch NANDO:1200230 Pemphigus foliaceus semapv:MappingInversion +MONDO:0019328 macrocystic lymphatic malformation skos:closeMatch NANDO:1200881 Giant lymphatic malformation (cervicofacial lesion) semapv:MappingInversion +MONDO:0019338 sarcoidosis skos:closeMatch NANDO:1200415 Sarcoidosis semapv:MappingInversion +MONDO:0019341 obsolete tuberous sclerosis complex skos:closeMatch NANDO:1200607 Tuberous sclerosis complex semapv:MappingInversion +MONDO:0019341 obsolete tuberous sclerosis complex skos:closeMatch NANDO:2200826 Tuberous sclerosis complex semapv:MappingInversion +MONDO:0019346 sialidosis type 1 skos:closeMatch NANDO:1200117 Sialidosis type 1 semapv:MappingInversion +MONDO:0019346 sialidosis type 1 skos:closeMatch NANDO:2201191 Sialidosis type 1 semapv:MappingInversion +MONDO:0019349 Sotos syndrome skos:closeMatch NANDO:1200679 Sotos syndrome semapv:MappingInversion +MONDO:0019349 Sotos syndrome skos:closeMatch NANDO:2200953 Sotos syndrome semapv:MappingInversion +MONDO:0019350 hereditary spherocytosis skos:closeMatch NANDO:2200622 Hereditary spherocytosis semapv:MappingInversion +MONDO:0019353 Stargardt disease skos:closeMatch NANDO:1200933 Stargardt disease semapv:MappingInversion +MONDO:0019355 adult-onset Still disease skos:closeMatch NANDO:1200282 Adult Still's disease semapv:MappingInversion +MONDO:0019366 free sialic acid storage disease skos:closeMatch NANDO:1200146 Free sialic acid storage disease semapv:MappingInversion +MONDO:0019366 free sialic acid storage disease skos:closeMatch NANDO:2200572 Free Sialic Acid Storage Disease semapv:MappingInversion +MONDO:0019373 desmoplastic small round cell tumor skos:closeMatch NANDO:2200059 Desmoplastic small round cell tumors semapv:MappingInversion +MONDO:0019391 Fanconi anemia skos:closeMatch NANDO:1200303 Fanconi anemia semapv:MappingInversion +MONDO:0019391 Fanconi anemia skos:closeMatch NANDO:1200891 Fanconi anemia semapv:MappingInversion +MONDO:0019391 Fanconi anemia skos:closeMatch NANDO:2200652 Fanconi anemia semapv:MappingInversion +MONDO:0019399 Isaac syndrome skos:closeMatch NANDO:1200510 Isaacs syndrome semapv:MappingInversion +MONDO:0019402 beta thalassemia skos:closeMatch NANDO:2201274 β-thalassemia semapv:MappingInversion +MONDO:0019403 congenital dyserythropoietic anemia skos:closeMatch NANDO:1200885 Congenital dyserythropoietic anemia semapv:MappingInversion +MONDO:0019403 congenital dyserythropoietic anemia skos:closeMatch NANDO:2100178 Congenital dyserythropoietic anemia semapv:MappingInversion +MONDO:0019403 congenital dyserythropoietic anemia skos:closeMatch NANDO:2200615 Congenital dyserythropoietic anemia semapv:MappingInversion +MONDO:0019408 Astley-Kendall dysplasia skos:closeMatch NANDO:2201362 Astley-Kendall dysplasia semapv:MappingInversion +MONDO:0019415 fetal and neonatal alloimmune thrombocytopenia skos:closeMatch NANDO:2200647 Neonatal alloimmune thrombocytopenia semapv:MappingInversion +MONDO:0019433 oligoarticular juvenile idiopathic arthritis skos:closeMatch NANDO:1200471 Articular-type juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0019433 oligoarticular juvenile idiopathic arthritis skos:closeMatch NANDO:2201056 Oligoarticular juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0019434 systemic-onset juvenile idiopathic arthritis skos:closeMatch NANDO:1200470 Systemic juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0019434 systemic-onset juvenile idiopathic arthritis skos:closeMatch NANDO:2201055 Systemic juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0019435 rheumatoid factor-positive polyarticular juvenile idiopathic arthritis skos:closeMatch NANDO:2201058 Rheumatoid factor-positive juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0019437 enthesitis-related juvenile idiopathic arthritis skos:closeMatch NANDO:2201060 Enthesitis-related juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0019438 AL amyloidosis skos:closeMatch NANDO:1200211 Amyloid light-chain amyloidosis semapv:MappingInversion +MONDO:0019443 dextro-looped transposition of the great arteries skos:closeMatch NANDO:1200698 Corrected transposition of great arteries semapv:MappingInversion +MONDO:0019448 benign adult familial myoclonic epilepsy skos:closeMatch NANDO:1200956 Benign adult familial myoclonus epilepsy semapv:MappingInversion +MONDO:0019460 acute leukemia of ambiguous lineage skos:closeMatch NANDO:2200017 Acute undifferentiated leukemia semapv:MappingInversion +MONDO:0019460 acute leukemia of ambiguous lineage skos:closeMatch NANDO:2200018 Mixed phenotype acute leukemia semapv:MappingInversion +MONDO:0019470 aggressive NK-cell leukemia skos:closeMatch NANDO:2200012 NK cell leukemia semapv:MappingInversion +MONDO:0019472 extranodal nasal NK/T cell lymphoma skos:closeMatch NANDO:2200027 Extranodal NK/T-cell lymphoma, nasal type semapv:MappingInversion +MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:closeMatch NANDO:2200030 Sucutaneous panniculitis-like T-cell lymphoma semapv:MappingInversion +MONDO:0019480 Langerhans cell sarcoma skos:closeMatch NANDO:2200036 Langerhans cell sarcoma semapv:MappingInversion +MONDO:0019485 idiopathic hemiconvulsion-hemiplegia syndrome skos:closeMatch NANDO:1200596 Hemiconvulsion-hemiplegia-epilepsy syndrome semapv:MappingInversion +MONDO:0019487 epilepsy with myoclonic absences skos:closeMatch NANDO:1200589 Myoclonic absence epilepsy semapv:MappingInversion +MONDO:0019499 Turner syndrome skos:closeMatch NANDO:2200410 Turner syndrome semapv:MappingInversion +MONDO:0019501 Usher syndrome skos:closeMatch NANDO:1200941 Usher syndrome semapv:MappingInversion +MONDO:0019503 anterior segment dysgenesis skos:closeMatch NANDO:1201000 Anterior segment dysgenesis semapv:MappingInversion +MONDO:0019532 autoimmune hemolytic anemia, warm type skos:closeMatch NANDO:1200306 Warm antibody hemolytic anemia semapv:MappingInversion +MONDO:0019533 paroxysmal cold hemoglobinuria skos:closeMatch NANDO:1200308 Paroxysmal cold hemoglobinuria semapv:MappingInversion +MONDO:0019533 paroxysmal cold hemoglobinuria skos:closeMatch NANDO:2200619 Paroxysmal cold hemoglobinuria semapv:MappingInversion +MONDO:0019534 mixed-type autoimmune hemolytic anemia skos:closeMatch NANDO:1200309 Mixed-type autoimmune hemolytic anemia semapv:MappingInversion +MONDO:0019536 Shiga toxin-associated hemolytic uremic syndrome skos:closeMatch NANDO:2200640 Shiga toxin-producing escherichia coli hemolytic uremic syndrome semapv:MappingInversion +MONDO:0019563 CREST syndrome skos:closeMatch NANDO:1201011 Limited cutaneous systemic sclerosis semapv:MappingInversion +MONDO:0019600 xeroderma pigmentosum skos:closeMatch NANDO:1200608 Xeroderma pigmentosum semapv:MappingInversion +MONDO:0019600 xeroderma pigmentosum skos:closeMatch NANDO:2100286 Xeroderma pigmentosum semapv:MappingInversion +MONDO:0019600 xeroderma pigmentosum skos:closeMatch NANDO:2201002 Xeroderma pigmentosum semapv:MappingInversion +MONDO:0019607 unspecified juvenile idiopathic arthritis skos:closeMatch NANDO:2201061 Unclassifiable Juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0019609 Zellweger spectrum disorders skos:closeMatch NANDO:1200760 Zellweger syndrome semapv:MappingInversion +MONDO:0019611 TSH-secreting pituitary adenoma skos:closeMatch NANDO:1200377 Diencephalo-hypophysial insufficiency-inappropriate thyroid stimulating hormone syndrome semapv:MappingInversion +MONDO:0019622 non-specific interstitial pneumonia skos:closeMatch NANDO:1200419 Non-specific interstitial pneumonia semapv:MappingInversion +MONDO:0019623 hereditary angioedema skos:closeMatch NANDO:1200365 Hereditary angioedema semapv:MappingInversion +MONDO:0019623 hereditary angioedema skos:closeMatch NANDO:2200795 Hereditary angioedema semapv:MappingInversion +MONDO:0019637 renal hypoplasia skos:closeMatch NANDO:2200155 Hypoplastic kidney semapv:MappingInversion +MONDO:0019638 renal dysplasia skos:closeMatch NANDO:2200161 Renal dysplasia semapv:MappingInversion +MONDO:0019639 congenital megacalycosis skos:closeMatch NANDO:2200177 Megacalycosis semapv:MappingInversion +MONDO:0019642 vitamin D-dependent rickets, type 2 skos:closeMatch NANDO:1200783 Vitamin D-dependent rickets, type 2 semapv:MappingInversion +MONDO:0019654 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis skos:closeMatch NANDO:2200111 Diffuse mesangial sclerosis semapv:MappingInversion +MONDO:0019669 hypochondrogenesis skos:closeMatch NANDO:2201346 Hypochondrogenesis semapv:MappingInversion +MONDO:0019701 chondrodysplasia punctata skos:closeMatch NANDO:2201017 Chondrodysplasia punctata semapv:MappingInversion +MONDO:0019731 AApoAI amyloidosis skos:closeMatch NANDO:1201062 Familial amyloid polyneuropathy type 3 semapv:MappingInversion +MONDO:0019734 juvenile polymyositis skos:closeMatch NANDO:2200419 Juvenile polymyositis semapv:MappingInversion +MONDO:0019736 dense deposit disease skos:closeMatch NANDO:1200739 Primary membranoproliferative glomerulonephritis type II semapv:MappingInversion +MONDO:0019740 acquired thrombotic thrombocytopenic purpura skos:closeMatch NANDO:1200318 Acquired idiopathic thrombotic thrombocytopenic purpura semapv:MappingInversion +MONDO:0019740 acquired thrombotic thrombocytopenic purpura skos:closeMatch NANDO:1200319 Secondary thrombotic thrombocytopenic purpura semapv:MappingInversion +MONDO:0019751 autoinflammatory syndrome skos:closeMatch NANDO:2100156 Autoinflammatory disease semapv:MappingInversion +MONDO:0019773 myelomeningocele skos:closeMatch NANDO:1200509 Myelomeningocele semapv:MappingInversion +MONDO:0019773 myelomeningocele skos:closeMatch NANDO:2100215 Myelomeningocele semapv:MappingInversion +MONDO:0019773 myelomeningocele skos:closeMatch NANDO:2200814 Myelomeningocele semapv:MappingInversion +MONDO:0019787 autoimmune enteropathy skos:closeMatch NANDO:2200923 Autoimmune enteropathy semapv:MappingInversion +MONDO:0019799 hepatoerythropoietic porphyria skos:closeMatch NANDO:1200819 Hepatoerythropoietic porphyria semapv:MappingInversion +MONDO:0019799 hepatoerythropoietic porphyria skos:closeMatch NANDO:2201270 Hepatoerythropoietic porphyria semapv:MappingInversion +MONDO:0019804 tracheomalacia skos:closeMatch NANDO:2200195 Tracheomalacia semapv:MappingInversion +MONDO:0019810 toxic epidermal necrolysis skos:closeMatch NANDO:1200246 Toxic epidermal necrolysis semapv:MappingInversion +MONDO:0019810 toxic epidermal necrolysis skos:closeMatch NANDO:2201007 Toxic epidermal necrolysis semapv:MappingInversion +MONDO:0019813 congenital tricuspid stenosis skos:closeMatch NANDO:1200962 Congenital tricuspid stenosis semapv:MappingInversion +MONDO:0019832 acquired pituitary hormone deficiency skos:closeMatch NANDO:2200313 Acquired hypopituitarism semapv:MappingInversion +MONDO:0019854 thyroid ectopia skos:closeMatch NANDO:2200330 Ectoic thyroid semapv:MappingInversion +MONDO:0019855 athyreosis skos:closeMatch NANDO:2200331 Thyroid agenesis semapv:MappingInversion +MONDO:0019933 acromegaly skos:closeMatch NANDO:2100112 Acromegaly semapv:MappingInversion +MONDO:0019933 acromegaly skos:closeMatch NANDO:2200315 Acromegaly semapv:MappingInversion +MONDO:0019948 reducing body myopathy skos:closeMatch NANDO:2200875 Reducing body myopathy semapv:MappingInversion +MONDO:0019952 congenital myopathy skos:closeMatch NANDO:1200477 Congenital myopathy semapv:MappingInversion +MONDO:0019952 congenital myopathy skos:closeMatch NANDO:2100234 Congenital myopathy semapv:MappingInversion +MONDO:0019959 glucagonoma skos:closeMatch NANDO:2100142 Glucagonoma semapv:MappingInversion +MONDO:0019959 glucagonoma skos:closeMatch NANDO:2200397 Glucagonoma semapv:MappingInversion +MONDO:0019960 VIPoma skos:closeMatch NANDO:2200394 Vipoma semapv:MappingInversion +MONDO:0019983 multiloculated renal cyst skos:closeMatch NANDO:2200171 Multilocular cysts of the kidney semapv:MappingInversion +MONDO:0019992 pseudohypoparathyroidism skos:closeMatch NANDO:1200776 Pseudohypoparathyroidism semapv:MappingInversion +MONDO:0019992 pseudohypoparathyroidism skos:closeMatch NANDO:2100126 Pseudohypoparathyroidism semapv:MappingInversion +MONDO:0019992 pseudohypoparathyroidism skos:closeMatch NANDO:2200349 Pseudohypoparathyroidism semapv:MappingInversion +MONDO:0020007 absence of the pulmonary artery skos:closeMatch NANDO:2200282 Unilateral absence of a pulmonary artery semapv:MappingInversion +MONDO:0020022 central nervous system malformation skos:closeMatch NANDO:2200118 Central nervous system malformation syndrome semapv:MappingInversion +MONDO:0020040 46,XY disorder of sex development skos:closeMatch NANDO:2200393 Disorders of sex development of 46,XX semapv:MappingInversion +MONDO:0020042 obsolete syndrome with 46,XY disorder of sex development skos:closeMatch NANDO:2200393 Disorders of sex development of 46,XX semapv:MappingInversion +MONDO:0020064 pulmonary valve agenesis skos:closeMatch NANDO:2100095 Absent pulmonary valve semapv:MappingInversion +MONDO:0020064 pulmonary valve agenesis skos:closeMatch NANDO:2200280 Absent pulmonary valve semapv:MappingInversion +MONDO:0020066 Ehlers-Danlos syndrome skos:closeMatch NANDO:1200645 Ehlers-Danlos Syndrome semapv:MappingInversion +MONDO:0020066 Ehlers-Danlos syndrome skos:closeMatch NANDO:2200607 Ehlers-Danlos syndrome semapv:MappingInversion +MONDO:0020074 progressive myoclonus epilepsy skos:closeMatch NANDO:1200953 Progressive myoclonus epilepsy semapv:MappingInversion +MONDO:0020074 progressive myoclonus epilepsy skos:closeMatch NANDO:2100237 Progressive myoclonus epilepsy semapv:MappingInversion +MONDO:0020088 familial partial lipodystrophy skos:closeMatch NANDO:1200861 Familial partial lipodystrophy semapv:MappingInversion +MONDO:0020099 inherited sideroblastic anemia skos:closeMatch NANDO:1200892 Hereditary sideroblastic anemia semapv:MappingInversion +MONDO:0020102 hereditary stomatocytosis skos:closeMatch NANDO:2200623 Hereditary stomatocytosis semapv:MappingInversion +MONDO:0020108 autoimmune hemolytic anemia skos:closeMatch NANDO:1200305 Autoimmune hemolytic anemia semapv:MappingInversion +MONDO:0020108 autoimmune hemolytic anemia skos:closeMatch NANDO:2100181 Autoimmune hemolytic anemia semapv:MappingInversion +MONDO:0020121 muscular dystrophy skos:closeMatch NANDO:1200486 Muscular dystrophy semapv:MappingInversion +MONDO:0020121 muscular dystrophy skos:closeMatch NANDO:2100233 Muscular dystrophy semapv:MappingInversion +MONDO:0020242 hereditary macular dystrophy skos:closeMatch NANDO:1200931 Macular dystrophy semapv:MappingInversion +MONDO:0020311 chronic myelomonocytic leukemia skos:closeMatch NANDO:2200014 Chronic myelomonocytic leukemia semapv:MappingInversion +MONDO:0020320 acute myeloblastic leukemia with maturation skos:closeMatch NANDO:2200006 Acute myeloid leukemia with maturation semapv:MappingInversion +MONDO:0020321 acute undifferentiated leukemia skos:closeMatch NANDO:2200017 Acute undifferentiated leukemia semapv:MappingInversion +MONDO:0020325 anaplastic large cell lymphoma skos:closeMatch NANDO:2200021 Anaplastic large cell lymphoma semapv:MappingInversion +MONDO:0020337 congenital dyserythropoietic anemia type 1 skos:closeMatch NANDO:1200886 Congenital dyserythropoietic anemia type I semapv:MappingInversion +MONDO:0020338 adult pure red cell aplasia skos:closeMatch NANDO:1200889 Acquired pure red cell aplasia semapv:MappingInversion +MONDO:0020338 adult pure red cell aplasia skos:closeMatch NANDO:2200613 Acquired pure red cell aplasia semapv:MappingInversion +MONDO:0020341 periventricular nodular heterotopia skos:closeMatch NANDO:1201079 Periventricular nodular heterotopia semapv:MappingInversion +MONDO:0020352 multiple system atrophy, parkinsonian type skos:closeMatch NANDO:1200036 Multiple system atrophy, Parkinsonian type semapv:MappingInversion +MONDO:0020385 congenitally uncorrected transposition of the great arteries with coarctation skos:closeMatch NANDO:1200703 Complete transposition of the great arteries (Group4) semapv:MappingInversion +MONDO:0020391 pulmonary artery coming from the aorta skos:closeMatch NANDO:2200281 Origin of pulmonary artery from ascending aorta semapv:MappingInversion +MONDO:0020398 congenital mitral stenosis skos:closeMatch NANDO:1200963 Congenital mitral stenosis semapv:MappingInversion +MONDO:0020400 congenital supravalvular mitral ring skos:closeMatch NANDO:2200308 Supramitral ring semapv:MappingInversion +MONDO:0020413 encircling double aortic arch skos:closeMatch NANDO:2200290 Double aortic arch disease semapv:MappingInversion +MONDO:0020428 congenital Gerbode defect skos:closeMatch NANDO:2100090 Left ventricular-right atrial communication semapv:MappingInversion +MONDO:0020428 congenital Gerbode defect skos:closeMatch NANDO:2200274 Left ventricular-right atrial communication semapv:MappingInversion +MONDO:0020434 atrial septal defect, ostium secundum type skos:closeMatch NANDO:2200266 Atrial septal defect, ostium secundum type semapv:MappingInversion +MONDO:0020436 atrial septal defect, sinus venosus type skos:closeMatch NANDO:2200267 Atrial septal defect, sinus venosus type semapv:MappingInversion +MONDO:0020439 patent foramen ovale skos:closeMatch NANDO:2200266 Atrial septal defect, ostium secundum type semapv:MappingInversion +MONDO:0020453 congenital partial pulmonary venous return anomaly skos:closeMatch NANDO:2200272 Partial anomalous pulmonary venous connection semapv:MappingInversion +MONDO:0020459 unstable hemoglobin disease skos:closeMatch NANDO:2200625 Unstable hemoglobin disease semapv:MappingInversion +MONDO:0020460 acquired von willebrand syndrome skos:closeMatch NANDO:1200899 Acquired von Willebrand disease semapv:MappingInversion +MONDO:0020476 mesial temporal lobe epilepsy with hippocampal sclerosis skos:closeMatch NANDO:1200588 Mesial temporal lobe epilepsy with bilateral hippocampal sclerosis semapv:MappingInversion +MONDO:0020479 pituitary gigantism skos:closeMatch NANDO:2100111 Pituitary gigantism semapv:MappingInversion +MONDO:0020479 pituitary gigantism skos:closeMatch NANDO:2200314 Pituitary gigantism semapv:MappingInversion +MONDO:0020489 familial hyperreninemic hypoaldosteronism type 1 skos:closeMatch NANDO:2200365 Aldosterone synthase deficiency semapv:MappingInversion +MONDO:0020491 subcortical band heterotopia skos:closeMatch NANDO:1201070 Subcortical band heterotopia semapv:MappingInversion +MONDO:0020492 hemimegalencephaly skos:closeMatch NANDO:1200563 Hemimegalencephaly semapv:MappingInversion +MONDO:0020511 precursor B-cell acute lymphoblastic leukemia skos:closeMatch NANDO:2200001 B-cell precursor lymphoblastic leukemia semapv:MappingInversion +MONDO:0020511 precursor B-cell acute lymphoblastic leukemia skos:closeMatch NANDO:2200022 Precursor B lymphoblastic lymphoma semapv:MappingInversion +MONDO:0020547 chronic graft versus host disease skos:closeMatch NANDO:2100213 Chronic graft-versus-host disease semapv:MappingInversion +MONDO:0020547 chronic graft versus host disease skos:closeMatch NANDO:2200812 Chronic graft-versus-host disease semapv:MappingInversion +MONDO:0020560 atypical teratoid rhabdoid tumor skos:closeMatch NANDO:2200101 Atypical teratoid, rhabdoid tumour semapv:MappingInversion +MONDO:0020586 factor V deficiency skos:closeMatch NANDO:2200674 Factor V deficiency semapv:MappingInversion +MONDO:0020587 factor XI deficiency skos:closeMatch NANDO:2200679 Factor XI deficiency semapv:MappingInversion +MONDO:0020599 acquired coagulation factor deficiency skos:closeMatch NANDO:1200896 Autoimmune acquired coagulation factor deficiency semapv:MappingInversion +MONDO:0020603 X-linked chondrodysplasia punctata 2 skos:closeMatch NANDO:1200630 Conradi Hünermann Happle syndrome semapv:MappingInversion +MONDO:0020603 X-linked chondrodysplasia punctata 2 skos:closeMatch NANDO:2201357 X-linked dominant chondrodysplasia Punctata, Conradi-Hunermann Type semapv:MappingInversion +MONDO:0020640 autoimmune encephalitis skos:closeMatch NANDO:2100248 Autoimmune encephalitis semapv:MappingInversion +MONDO:0020640 autoimmune encephalitis skos:closeMatch NANDO:2200902 Autoimmune encephalitis semapv:MappingInversion +MONDO:0020642 polycystic kidney disease skos:closeMatch NANDO:1200367 Polycystic kidney disease semapv:MappingInversion +MONDO:0020642 polycystic kidney disease skos:closeMatch NANDO:2200152 Polycystic kidney disease semapv:MappingInversion +MONDO:0020690 adult glioblastoma skos:closeMatch NANDO:2200087 Glioblastoma semapv:MappingInversion +MONDO:0020702 autosomal dominant epidermolytic ichthyosis skos:closeMatch NANDO:1200611 Autosomal dominant epidermolytic ichthyosis semapv:MappingInversion +MONDO:0020702 autosomal dominant epidermolytic ichthyosis skos:closeMatch NANDO:2200988 Autosomal dominant epidermolytic ichthyosis semapv:MappingInversion +MONDO:0020743 mixed phenotype acute leukemia skos:closeMatch NANDO:2200018 Mixed phenotype acute leukemia semapv:MappingInversion +MONDO:0020793 oculopharyngodistal myopathy 1 skos:closeMatch NANDO:1200219 Oculopharyngodistal myopathy semapv:MappingInversion +MONDO:0020803 obsolete bundle branch block skos:closeMatch NANDO:2100046 Bundle branch block semapv:MappingInversion +MONDO:0020803 obsolete bundle branch block skos:closeMatch NANDO:2200215 Bundle branch block semapv:MappingInversion +MONDO:0021055 classic familial adenomatous polyposis skos:closeMatch NANDO:2200915 Familial adenomatous polyposis semapv:MappingInversion +MONDO:0021061 neurofibromatosis skos:closeMatch NANDO:1200225 Neurofibromatosis semapv:MappingInversion +MONDO:0021061 neurofibromatosis skos:closeMatch NANDO:1200226 Neurofibromatosis type 1 semapv:MappingInversion +MONDO:0021061 neurofibromatosis skos:closeMatch NANDO:1200227 Neurofibromatosis type 2 semapv:MappingInversion +MONDO:0021061 neurofibromatosis skos:closeMatch NANDO:2201003 von Recklinghausen's disease semapv:MappingInversion +MONDO:0021081 anti-NMDA receptor encephalitis skos:closeMatch NANDO:2201317 Anti-NMDA receptor encephalitis semapv:MappingInversion +MONDO:0021094 immunodeficiency disease skos:closeMatch NANDO:2100204 Immunodeficiency semapv:MappingInversion +MONDO:0021133 acquired factor XIII deficiency skos:closeMatch NANDO:1200897 Autoimmune hemorrhaphilia XIII/13 semapv:MappingInversion +MONDO:0021134 acquired factor X deficiency skos:closeMatch NANDO:1201048 Acquired factor X inhibitor semapv:MappingInversion +MONDO:0021209 heart neoplasm skos:closeMatch NANDO:2100061 Cardiac tumor semapv:MappingInversion +MONDO:0021209 heart neoplasm skos:closeMatch NANDO:2200236 Cardiac tumor semapv:MappingInversion +MONDO:0021902 aortopulmonary window skos:closeMatch NANDO:2100082 Aorto-pulmonary window semapv:MappingInversion +MONDO:0021902 aortopulmonary window skos:closeMatch NANDO:2200262 Aorto-pulmonary window semapv:MappingInversion +MONDO:0021915 arakawa syndrome 2 skos:closeMatch NANDO:2201111 Methylcobalamin deficiency cblG type semapv:MappingInversion +MONDO:0021969 Banti syndrome skos:closeMatch NANDO:1200438 Idiopathic portal hypertension semapv:MappingInversion +MONDO:0022205 pustular psoriasis skos:closeMatch NANDO:1200240 Pustular psoriasis semapv:MappingInversion +MONDO:0022205 pustular psoriasis skos:closeMatch NANDO:2100285 Pustular psoriasis semapv:MappingInversion +MONDO:0022205 pustular psoriasis skos:closeMatch NANDO:2201001 Pustular psoriasis semapv:MappingInversion +MONDO:0022308 corticobasal degeneration disorder skos:closeMatch NANDO:1200011 Corticobasal degeneration semapv:MappingInversion +MONDO:0022402 agyria-pachygyria type 1 skos:closeMatch NANDO:1201068 Agyria semapv:MappingInversion +MONDO:0022402 agyria-pachygyria type 1 skos:closeMatch NANDO:1201069 Pachygyria semapv:MappingInversion +MONDO:0022424 alpha-mannosidosis type 1 skos:closeMatch NANDO:1200127 Alpha-mannosidosis, infantile form semapv:MappingInversion +MONDO:0022424 alpha-mannosidosis type 1 skos:closeMatch NANDO:2201188 Alpha-mannosidosis, infantile form semapv:MappingInversion +MONDO:0022800 type 2 collagenopathy skos:closeMatch NANDO:2201016 Type II collagenopathy semapv:MappingInversion +MONDO:0022858 continuous spike-wave during slow sleep syndrome skos:closeMatch NANDO:1200601 Epileptic encephalopathy with continuous spike-and-wave during sleep semapv:MappingInversion +MONDO:0022880 obsolete corticobasal degeneration skos:closeMatch NANDO:1200011 Corticobasal degeneration semapv:MappingInversion +MONDO:0023258 glycogen storage disease type 1 due to SLC37A4 mutation skos:closeMatch NANDO:1200841 Hepatic glycogen storage disease type Ib semapv:MappingInversion +MONDO:0023419 hyperprolinemia skos:closeMatch NANDO:2200471 Hyperprolinemia semapv:MappingInversion +MONDO:0024291 vascular malformation skos:closeMatch NANDO:2100295 Vascular malformation semapv:MappingInversion +MONDO:0024299 vitamin D-dependent rickets skos:closeMatch NANDO:1200781 Vitamin D-dependent rickets / Osteomalacia semapv:MappingInversion +MONDO:0024299 vitamin D-dependent rickets skos:closeMatch NANDO:2100144 Vitamin D-dependent rickets semapv:MappingInversion +MONDO:0024299 vitamin D-dependent rickets skos:closeMatch NANDO:2200401 Vitamin D-dependent rickets semapv:MappingInversion +MONDO:0024300 hypophosphatemic rickets skos:closeMatch NANDO:1200778 Vitamin D-resistant rickets/Vitamin D-resistant osteomalacia semapv:MappingInversion +MONDO:0024300 hypophosphatemic rickets skos:closeMatch NANDO:1200780 Vitamin D-resistant osteomalacia semapv:MappingInversion +MONDO:0024300 hypophosphatemic rickets skos:closeMatch NANDO:2200402 Vitamin D-resistant osteomalacia semapv:MappingInversion +MONDO:0024300 hypophosphatemic rickets skos:closeMatch NANDO:2200403 Primary hypophosphatemic rickets semapv:MappingInversion +MONDO:0024308 pseudoxanthoma elasticum (inherited or acquired) skos:closeMatch NANDO:1200643 Pseudoxanthoma elasticum semapv:MappingInversion +MONDO:0024327 chronic renal failure syndrome skos:closeMatch NANDO:2100023 Chronic renal failure semapv:MappingInversion +MONDO:0024457 neurodegeneration with brain iron accumulation 2A skos:closeMatch NANDO:1200537 Neurodegeneration with brain iron accumulation type 2A semapv:MappingInversion +MONDO:0024536 glucocorticoid deficiency 1 skos:closeMatch NANDO:1200408 MC2R deficiency semapv:MappingInversion +MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:closeMatch NANDO:1200208 Familial idiopathic basal ganglia calcification semapv:MappingInversion +MONDO:0024574 von Willebrand disease (hereditary or acquired) skos:closeMatch NANDO:2200682 Von Willebrand disease semapv:MappingInversion +MONDO:0024623 otorhinolaryngologic disease skos:closeMatch NANDO:1100015 Otorhinolaryngological disease semapv:MappingInversion +MONDO:0024644 myocardial ischemia skos:closeMatch NANDO:2100070 Ischemic heart disease semapv:MappingInversion +MONDO:0024677 pancreatic insulinoma skos:closeMatch NANDO:2200398 Insulinoma semapv:MappingInversion +MONDO:0024746 immature teratoma skos:closeMatch NANDO:2200106 Immature teratoma semapv:MappingInversion +MONDO:0025193 oculopharyngodistal myopathy skos:closeMatch NANDO:1200219 Oculopharyngodistal myopathy semapv:MappingInversion +MONDO:0028737 obsolete biliary atresia disorder skos:closeMatch NANDO:1200913 Biliary atresia semapv:MappingInversion +MONDO:0028737 obsolete biliary atresia disorder skos:closeMatch NANDO:2200930 biliary atresia semapv:MappingInversion +MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome skos:closeMatch NANDO:1200649 Ehlers-Danlos syndrome, kyphoscoliotic type semapv:MappingInversion +MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome skos:closeMatch NANDO:2201259 Ehlers-Danlos syndrome, kyphoscoliotic type semapv:MappingInversion +MONDO:0034976 iatrogenic Creutzfeldt-Jakob disease skos:closeMatch NANDO:1200193 Iatrogenic Creutzfeldt-Jakob disease semapv:MappingInversion +MONDO:0037792 carbohydrate metabolism disease skos:closeMatch NANDO:2100164 Disorder of carbohydrate metabolism semapv:MappingInversion +MONDO:0037858 inherited fatty acid metabolism disorder skos:closeMatch NANDO:2100162 Disorder of fatty-acid metabolism semapv:MappingInversion +MONDO:0037871 amino acid metabolism disease skos:closeMatch NANDO:2100160 Disorder of amino acid metabolism semapv:MappingInversion +MONDO:0037939 porphyria skos:closeMatch NANDO:1200811 Porphyria semapv:MappingInversion +MONDO:0042727 sacrococcygeal teratoma skos:closeMatch NANDO:2100216 Sacrococcygeal teratoma semapv:MappingInversion +MONDO:0042727 sacrococcygeal teratoma skos:closeMatch NANDO:2200816 Sacrococcygeal teratoma semapv:MappingInversion +MONDO:0042727 sacrococcygeal teratoma skos:closeMatch NANDO:2201287 Altman type IV sacrococcygeal teratoma semapv:MappingInversion +MONDO:0042981 aortic valve stenosis skos:closeMatch NANDO:2200306 Aortic valve stenosis semapv:MappingInversion +MONDO:0042983 neurocutaneous syndrome skos:closeMatch NANDO:2100220 Neurocutaneous syndrome semapv:MappingInversion +MONDO:0043094 ichthyosis, follicular skos:closeMatch NANDO:1200628 Ichthyosis follicularis semapv:MappingInversion +MONDO:0043152 negative rheumatoid factor polyarthritis skos:closeMatch NANDO:2201057 Rheumatoid factor-negative juvenile idiopathic arthritis semapv:MappingInversion +MONDO:0043267 rheumatoid vasculitis skos:closeMatch NANDO:1200265 Rheumatoid vasculitis semapv:MappingInversion +MONDO:0043317 amyopathic dermatomyositis skos:closeMatch NANDO:1200275 Amyopathic dermatomyositis semapv:MappingInversion +MONDO:0043472 ectopic ACTH secretion syndrome skos:closeMatch NANDO:2200351 Ectopic ACTH syndrome semapv:MappingInversion +MONDO:0043768 thrombocytopenic purpura skos:closeMatch NANDO:2100188 Thrombocytopenic purpura semapv:MappingInversion +MONDO:0044354 obsolete Rosai-Dorfman disease skos:closeMatch NANDO:2200039 Rosai-Dorfman disease semapv:MappingInversion +MONDO:0044742 autosomal recessive epidermolytic ichthyosis skos:closeMatch NANDO:1200612 Autosomal recessive epidermolytic ichthyosis semapv:MappingInversion +MONDO:0044742 autosomal recessive epidermolytic ichthyosis skos:closeMatch NANDO:2200989 Autosomal recessive epidermolytic ichthyosis semapv:MappingInversion +MONDO:0044744 prekallikrein deficiency skos:closeMatch NANDO:2200684 Congenital prekallikrein deficiency semapv:MappingInversion +MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma skos:closeMatch NANDO:1201067 Nodular lymphocyte predominance Hodgkin lymphoma semapv:MappingInversion +MONDO:0044807 inherited dystonia skos:closeMatch NANDO:1200511 Hereditary dystonia semapv:MappingInversion +MONDO:0044808 obsolete early onset primary dystonia skos:closeMatch NANDO:1200512 Dystonia 1 semapv:MappingInversion +MONDO:0044873 childhood myelodysplastic syndrome skos:closeMatch NANDO:2100003 Myelodysplastic syndrome semapv:MappingInversion +MONDO:0044873 childhood myelodysplastic syndrome skos:closeMatch NANDO:2200019 Myelodysplastic syndrome semapv:MappingInversion +MONDO:0044903 myelofibrosis skos:closeMatch NANDO:2100200 Myelofibrosis semapv:MappingInversion +MONDO:0044903 myelofibrosis skos:closeMatch NANDO:2200692 Myelofibrosis semapv:MappingInversion +MONDO:0044917 T-lymphoblastic lymphoma skos:closeMatch NANDO:2200023 Precursor T lymphoblastic lymphoma semapv:MappingInversion +MONDO:0044970 mitochondrial disease skos:closeMatch NANDO:1200173 Mitochondrial diseases semapv:MappingInversion +MONDO:0044970 mitochondrial disease skos:closeMatch NANDO:2100163 Mitochondrial diseases semapv:MappingInversion +MONDO:0045022 disorder of organic acid metabolism skos:closeMatch NANDO:2100161 Disorder of organic acid metabolism semapv:MappingInversion +MONDO:0045045 selective IgG immunodeficiency skos:closeMatch NANDO:1200346 IgG subclass deficiency semapv:MappingInversion +MONDO:0100025 epilepsy of infancy with migrating focal seizures skos:closeMatch NANDO:1200595 Epilepsy of infancy with migrating focal seizures semapv:MappingInversion +MONDO:0100062 developmental and epileptic encephalopathy skos:closeMatch NANDO:1200593 Ohtahara syndrome semapv:MappingInversion +MONDO:0100064 tyrosine hydroxylase deficiency skos:closeMatch NANDO:2200595 Tyrosine hydroxylase deficiency semapv:MappingInversion +MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:closeMatch NANDO:2200662 Familial platelet disorder with propensity to myeloid. semapv:MappingInversion +MONDO:0100133 mitochondrial complex I deficiency skos:closeMatch NANDO:1200180 Mitochondrial complex I deficiency semapv:MappingInversion +MONDO:0100135 Dravet syndrome skos:closeMatch NANDO:1200587 Dravet syndrome semapv:MappingInversion +MONDO:0100135 Dravet syndrome skos:closeMatch NANDO:2200877 Severe myoclonic epilepsy in infancy semapv:MappingInversion +MONDO:0100151 nephropathic cystinosis skos:closeMatch NANDO:1200162 Nephropathic cystinosis semapv:MappingInversion +MONDO:0100151 nephropathic cystinosis skos:closeMatch NANDO:2201234 Nephropathic cystinosis semapv:MappingInversion +MONDO:0100189 apolipoprotein A-I deficiency skos:closeMatch NANDO:2200605 HDL deficiency semapv:MappingInversion +MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive skos:closeMatch NANDO:2200737 STAT5b deficiency semapv:MappingInversion +MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:closeMatch NANDO:2200999 Ichthyosis-follicularis-atrichia-photophobia syndrome semapv:MappingInversion +MONDO:0100222 A20 haploinsufficiency skos:closeMatch NANDO:1200997 A20 haploinsufficiency semapv:MappingInversion +MONDO:0100222 A20 haploinsufficiency skos:closeMatch NANDO:2200458 A20 haploinsufficiency semapv:MappingInversion +MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 skos:closeMatch NANDO:1200180 Mitochondrial complex I deficiency semapv:MappingInversion + diff --git a/src/mappings/nando-mondo.sssom.tsv b/src/mappings/nando-mondo.sssom.tsv new file mode 100644 index 00000000..80fce8c4 --- /dev/null +++ b/src/mappings/nando-mondo.sssom.tsv @@ -0,0 +1,2357 @@ +#curie_map: +# NANDO: "http://nanbyodata.jp/ontology/NANDO_" +# MONDO: "http://purl.obolibrary.org/obo/MONDO_" +# orcid: "https://orcid.org/" +#creator_id: +# - "orcid:0000-0003-0011-764X" +# - "orcid:0000-0002-0170-9172" +#license: "https://creativecommons.org/licenses/by/4.0/" +#mapping_set_title: "NANDO - Mondo mappings provided by nanbyodata.jp" +#mapping_set_description: "This mapping set is manually curated by the NANDO team at nanbyodata.jp." +#mapping_provider: "http://nanbyodata.jp" +subject_id subject_label predicate_id object_id object_label mapping_justification +NANDO:1100001 Neuromuscular disease skos:closeMatch MONDO:0019056 neuromuscular disease semapv:ManualMappingCuration +NANDO:1100002 Metabolic disease skos:closeMatch MONDO:0004955 obsolete metabolic syndrome semapv:ManualMappingCuration +NANDO:1100002 Metabolic disease skos:closeMatch MONDO:0005066 metabolic disease semapv:ManualMappingCuration +NANDO:1100004 Immune system disease skos:closeMatch MONDO:0005046 immune system disorder semapv:ManualMappingCuration +NANDO:1100005 Cardiovascular disease skos:closeMatch MONDO:0004995 cardiovascular disorder semapv:ManualMappingCuration +NANDO:1100006 Blood disease skos:closeMatch MONDO:0005570 hematologic disorder semapv:ManualMappingCuration +NANDO:1100009 Endocrine disease skos:closeMatch MONDO:0005151 endocrine system disorder semapv:ManualMappingCuration +NANDO:1100010 Respiratory disease skos:closeMatch MONDO:0005087 respiratory system disorder semapv:ManualMappingCuration +NANDO:1100013 Gastrointestinal disease skos:closeMatch MONDO:0004335 digestive system disorder semapv:ManualMappingCuration +NANDO:1100014 Chromosome abnormality skos:closeMatch MONDO:0019040 chromosomal disorder semapv:ManualMappingCuration +NANDO:1100015 Otorhinolaryngological disease skos:closeMatch MONDO:0024623 otorhinolaryngologic disease semapv:ManualMappingCuration +NANDO:1200001 Spinal and bulbar muscular atrophy skos:closeMatch MONDO:0010735 Kennedy disease semapv:ManualMappingCuration +NANDO:1200001 Spinal and bulbar muscular atrophy skos:closeMatch MONDO:0016113 bulbospinal muscular atrophy semapv:ManualMappingCuration +NANDO:1200002 Amyotrophic lateral sclerosis skos:closeMatch MONDO:0004976 amyotrophic lateral sclerosis semapv:ManualMappingCuration +NANDO:1200003 Spinal muscular atrophy skos:closeMatch MONDO:0001516 spinal muscular atrophy semapv:ManualMappingCuration +NANDO:1200004 Spinal muscular atrophy type I skos:closeMatch MONDO:0009669 spinal muscular atrophy, type 1 semapv:ManualMappingCuration +NANDO:1200005 Spinal muscular atrophy type II skos:closeMatch MONDO:0009673 spinal muscular atrophy, type II semapv:ManualMappingCuration +NANDO:1200006 Spinal muscular atrophy type III skos:closeMatch MONDO:0009672 spinal muscular atrophy, type III semapv:ManualMappingCuration +NANDO:1200007 Spinal muscular atrophy type IV skos:closeMatch MONDO:0010056 spinal muscular atrophy, type IV semapv:ManualMappingCuration +NANDO:1200008 Primary lateral sclerosis skos:closeMatch MONDO:0018155 lateral sclerosis semapv:ManualMappingCuration +NANDO:1200009 Progressive supranuclear palsy skos:closeMatch MONDO:0019037 progressive supranuclear palsy semapv:ManualMappingCuration +NANDO:1200010 Parkinson's disease skos:closeMatch MONDO:0005180 Parkinson disease semapv:ManualMappingCuration +NANDO:1200011 Corticobasal degeneration skos:closeMatch MONDO:0022308 corticobasal degeneration disorder semapv:ManualMappingCuration +NANDO:1200011 Corticobasal degeneration skos:closeMatch MONDO:0022880 obsolete corticobasal degeneration semapv:ManualMappingCuration +NANDO:1200012 Huntington's disease skos:closeMatch MONDO:0007739 Huntington disease semapv:ManualMappingCuration +NANDO:1200013 Neuroacanthocytosis skos:closeMatch MONDO:0016987 neuroacanthocytosis semapv:ManualMappingCuration +NANDO:1200014 Chorea-acanthocytosis skos:closeMatch MONDO:0008695 chorea-acanthocytosis semapv:ManualMappingCuration +NANDO:1200015 McLeod syndrome skos:closeMatch MONDO:0018945 McLeod neuroacanthocytosis syndrome semapv:ManualMappingCuration +NANDO:1200016 Charcot-Marie-Tooth disease skos:closeMatch MONDO:0015626 Charcot-Marie-Tooth disease semapv:ManualMappingCuration +NANDO:1200017 Charcot-Marie-Tooth disease type 1 skos:closeMatch MONDO:0019011 Charcot-Marie-Tooth disease type 1 semapv:ManualMappingCuration +NANDO:1200018 Charcot-Marie-Tooth disease type 2 skos:closeMatch MONDO:0018993 Charcot-Marie-Tooth disease type 2 semapv:ManualMappingCuration +NANDO:1200019 Intermediate Charcot-Marie-Tooth disease skos:closeMatch MONDO:0018778 intermediate Charcot-Marie-Tooth disease semapv:ManualMappingCuration +NANDO:1200020 Myasthenia gravis skos:closeMatch MONDO:0009688 myasthenia gravis semapv:ManualMappingCuration +NANDO:1200021 Congenital myasthenic syndrome skos:closeMatch MONDO:0018940 congenital myasthenic syndrome semapv:ManualMappingCuration +NANDO:1200023 Multiple sclerosis skos:closeMatch MONDO:0005301 multiple sclerosis semapv:ManualMappingCuration +NANDO:1200024 Relapsing-remitting multiple sclerosis skos:closeMatch MONDO:0005314 relapsing-remitting multiple sclerosis semapv:ManualMappingCuration +NANDO:1200025 Primary progressive multiple sclerosis skos:closeMatch MONDO:0000451 primary progressive multiple sclerosis semapv:ManualMappingCuration +NANDO:1200026 Secondary progressive multiple sclerosis skos:closeMatch MONDO:0000450 secondary progressive multiple sclerosis semapv:ManualMappingCuration +NANDO:1200027 Neuromyelitis optica spectrum disorders skos:closeMatch MONDO:0019100 neuromyelitis optica semapv:ManualMappingCuration +NANDO:1200028 Baló concentric sclerosis skos:closeMatch MONDO:0016430 Balo concentric sclerosis semapv:ManualMappingCuration +NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy skos:closeMatch MONDO:0002335 chronic inflammatory demyelinating polyneuritis semapv:ManualMappingCuration +NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy skos:closeMatch MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy semapv:ManualMappingCuration +NANDO:1200030 Chronic inflammatory demyelinating polyneuropathy skos:closeMatch MONDO:0007691 Guillain-Barre syndrome, familial semapv:ManualMappingCuration +NANDO:1200031 Multifocal motor neuropathy skos:closeMatch MONDO:0018979 multifocal motor neuropathy semapv:ManualMappingCuration +NANDO:1200032 Sporadic inclusion body myositis skos:closeMatch MONDO:0007827 inclusion body myositis semapv:ManualMappingCuration +NANDO:1200033 Crow-Fukase syndrome skos:closeMatch MONDO:0017364 POEMS syndrome semapv:ManualMappingCuration +NANDO:1200034 Multiple system atrophy skos:closeMatch MONDO:0007803 multiple system atrophy semapv:ManualMappingCuration +NANDO:1200035 Multiple system atrophy, cerebellar type skos:closeMatch MONDO:0016418 multiple system atrophy, cerebellar type semapv:ManualMappingCuration +NANDO:1200036 Multiple system atrophy, Parkinsonian type skos:closeMatch MONDO:0020352 multiple system atrophy, parkinsonian type semapv:ManualMappingCuration +NANDO:1200037 Spinocerebellar degeneration skos:closeMatch MONDO:0000437 cerebellar ataxia semapv:ManualMappingCuration +NANDO:1200041 Spinocerebellar ataxia type 3 skos:closeMatch MONDO:0007182 Machado-Joseph disease semapv:ManualMappingCuration +NANDO:1200042 Spinocerebellar ataxia type 6 skos:closeMatch MONDO:0008457 spinocerebellar ataxia type 6 semapv:ManualMappingCuration +NANDO:1200043 Dentatorubropallidoluysian atrophy skos:closeMatch MONDO:0007435 dentatorubral-pallidoluysian atrophy semapv:ManualMappingCuration +NANDO:1200044 Spinocerebellar ataxia type 31 skos:closeMatch MONDO:0007296 spinocerebellar ataxia type 31 semapv:ManualMappingCuration +NANDO:1200045 Spinocerebellar ataxia type 1 skos:closeMatch MONDO:0008119 spinocerebellar ataxia type 1 semapv:ManualMappingCuration +NANDO:1200046 Spinocerebellar ataxia type 2 skos:closeMatch MONDO:0008458 spinocerebellar ataxia type 2 semapv:ManualMappingCuration +NANDO:1200047 Spinocerebellar ataxia type 7 skos:closeMatch MONDO:0008120 obsolete spinocerebellar ataxia type 7 semapv:ManualMappingCuration +NANDO:1200048 Spinocerebellar ataxia type 36 skos:closeMatch MONDO:0013594 spinocerebellar ataxia type 36 semapv:ManualMappingCuration +NANDO:1200050 Ataxia with isolated vitamin E deficiency skos:closeMatch MONDO:0010188 familial isolated deficiency of vitamin E semapv:ManualMappingCuration +NANDO:1200051 Ataxia-oculomotor apraxia type 1 skos:closeMatch MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia semapv:ManualMappingCuration +NANDO:1200052 Hereditary spastic paraplegia skos:closeMatch MONDO:0019064 hereditary spastic paraplegia semapv:ManualMappingCuration +NANDO:1200053 Pure hereditary spastic paraplegia skos:closeMatch MONDO:0015149 pure hereditary spastic paraplegia semapv:ManualMappingCuration +NANDO:1200054 Complex hereditary spastic paraplegia skos:closeMatch MONDO:0015150 complex hereditary spastic paraplegia semapv:ManualMappingCuration +NANDO:1200055 Lysosomal storage disease skos:closeMatch MONDO:0002561 lysosomal storage disease semapv:ManualMappingCuration +NANDO:1200056 Gaucher disease skos:closeMatch MONDO:0018150 Gaucher disease semapv:ManualMappingCuration +NANDO:1200057 Gaucher disease type 1 skos:closeMatch MONDO:0009265 Gaucher disease type I semapv:ManualMappingCuration +NANDO:1200058 Gaucher disease type 2 skos:closeMatch MONDO:0009266 Gaucher disease type II semapv:ManualMappingCuration +NANDO:1200059 Gaucher disease type 3 skos:closeMatch MONDO:0009267 Gaucher disease type III semapv:ManualMappingCuration +NANDO:1200061 Niemann-Pick disease type A skos:closeMatch MONDO:0009756 Niemann-Pick disease type A semapv:ManualMappingCuration +NANDO:1200062 Niemann-Pick disease type B skos:closeMatch MONDO:0011871 Niemann-Pick disease type B semapv:ManualMappingCuration +NANDO:1200063 Niemann-Pick disease type C skos:closeMatch MONDO:0018982 Niemann-Pick disease type C semapv:ManualMappingCuration +NANDO:1200065 Adult-onset Niemann-Pick disease type C skos:closeMatch MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset semapv:ManualMappingCuration +NANDO:1200066 GM1 gangliosidosis skos:closeMatch MONDO:0018149 GM1 gangliosidosis semapv:ManualMappingCuration +NANDO:1200067 Infantile GM1 gangliosidosis skos:closeMatch MONDO:0009260 GM1 gangliosidosis type 1 semapv:ManualMappingCuration +NANDO:1200068 Juvenile GM1 gangliosidosis skos:closeMatch MONDO:0009261 GM1 gangliosidosis type 2 semapv:ManualMappingCuration +NANDO:1200069 Adult GM1 gangliosidosis skos:closeMatch MONDO:0009262 GM1 gangliosidosis type 3 semapv:ManualMappingCuration +NANDO:1200070 GM2 gangliosidosis skos:closeMatch MONDO:0017720 GM2 gangliosidosis semapv:ManualMappingCuration +NANDO:1200071 Tay-Sachs disease skos:closeMatch MONDO:0010100 Tay-Sachs disease semapv:ManualMappingCuration +NANDO:1200072 Sandhoff disease skos:closeMatch MONDO:0010006 Sandhoff disease semapv:ManualMappingCuration +NANDO:1200073 GM2 gangliosidosis AB variant skos:closeMatch MONDO:0010099 Tay-Sachs disease AB variant semapv:ManualMappingCuration +NANDO:1200074 Krabbe disease skos:closeMatch MONDO:0009499 Krabbe disease semapv:ManualMappingCuration +NANDO:1200075 Infantile Krabbe disease skos:closeMatch MONDO:0016089 infantile Krabbe disease semapv:ManualMappingCuration +NANDO:1200077 Adult Krabbe disease skos:closeMatch MONDO:0016091 adult Krabbe disease semapv:ManualMappingCuration +NANDO:1200078 Metachromatic leukodystrophy skos:closeMatch MONDO:0018868 metachromatic leukodystrophy semapv:ManualMappingCuration +NANDO:1200080 Juvenile ｍetachromatic leukodystrophy skos:closeMatch MONDO:0009591 metachromatic leukodystrophy, juvenile form semapv:ManualMappingCuration +NANDO:1200082 Saposin B deficiency skos:closeMatch MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency semapv:ManualMappingCuration +NANDO:1200083 Multiple sulfatase deficiency skos:closeMatch MONDO:0010088 mucosulfatidosis semapv:ManualMappingCuration +NANDO:1200086 Farber disease skos:closeMatch MONDO:0009218 Farber lipogranulomatosis semapv:ManualMappingCuration +NANDO:1200094 Hurler syndrome skos:closeMatch MONDO:0011758 Hurler syndrome semapv:ManualMappingCuration +NANDO:1200095 Scheie syndrome skos:closeMatch MONDO:0011760 Scheie syndrome semapv:ManualMappingCuration +NANDO:1200096 Hurler-Scheie syndrome skos:closeMatch MONDO:0011759 Hurler-Scheie syndrome semapv:ManualMappingCuration +NANDO:1200097 Hunter syndrome skos:closeMatch MONDO:0010674 mucopolysaccharidosis type 2 semapv:ManualMappingCuration +NANDO:1200098 Hunter syndrome type A skos:closeMatch MONDO:0016315 mucopolysaccharidosis type 2, severe form semapv:ManualMappingCuration +NANDO:1200099 Hunter syndrome type B skos:closeMatch MONDO:0016316 mucopolysaccharidosis type 2, attenuated form semapv:ManualMappingCuration +NANDO:1200100 Sanfilippo disease skos:closeMatch MONDO:0018937 mucopolysaccharidosis type 3 semapv:ManualMappingCuration +NANDO:1200101 Sanfilippo disease type A skos:closeMatch MONDO:0009655 mucopolysaccharidosis type 3A semapv:ManualMappingCuration +NANDO:1200102 Sanfilippo disease type B skos:closeMatch MONDO:0009656 mucopolysaccharidosis type 3B semapv:ManualMappingCuration +NANDO:1200103 Sanfilippo disease type C skos:closeMatch MONDO:0009657 mucopolysaccharidosis type 3C semapv:ManualMappingCuration +NANDO:1200104 Sanfilippo disease type D skos:closeMatch MONDO:0009658 mucopolysaccharidosis type 3D semapv:ManualMappingCuration +NANDO:1200105 Morquio syndrome skos:closeMatch MONDO:0018938 mucopolysaccharidosis type 4 semapv:ManualMappingCuration +NANDO:1200106 Morquio syndrome type A skos:closeMatch MONDO:0009659 mucopolysaccharidosis type 4A semapv:ManualMappingCuration +NANDO:1200107 Morquio syndrome type B skos:closeMatch MONDO:0009660 mucopolysaccharidosis type 4B semapv:ManualMappingCuration +NANDO:1200108 Maroteaux-Lamy syndrome skos:closeMatch MONDO:0009661 mucopolysaccharidosis type 6 semapv:ManualMappingCuration +NANDO:1200109 Maroteaux Lamy syndrome, rapidly progressing form skos:closeMatch MONDO:0009661 mucopolysaccharidosis type 6 semapv:ManualMappingCuration +NANDO:1200110 Maroteaux Lamy syndrome, slowly progressing form skos:closeMatch MONDO:0009661 mucopolysaccharidosis type 6 semapv:ManualMappingCuration +NANDO:1200111 Sly syndrome skos:closeMatch MONDO:0009662 mucopolysaccharidosis type 7 semapv:ManualMappingCuration +NANDO:1200115 Hyaluronidase deficiency skos:closeMatch MONDO:0011093 mucopolysaccharidosis type 9 semapv:ManualMappingCuration +NANDO:1200116 Sialidosis skos:closeMatch MONDO:0017734 sialidosis semapv:ManualMappingCuration +NANDO:1200117 Sialidosis type 1 skos:closeMatch MONDO:0019346 sialidosis type 1 semapv:ManualMappingCuration +NANDO:1200118 Sialidosis type 2 skos:closeMatch MONDO:0009738 sialidosis type 2 semapv:ManualMappingCuration +NANDO:1200119 Galactosialidosis skos:closeMatch MONDO:0009737 galactosialidosis semapv:ManualMappingCuration +NANDO:1200120 Galactosialidosis, early infantile form skos:closeMatch MONDO:0009738 sialidosis type 2 semapv:ManualMappingCuration +NANDO:1200124 Mucolipidosis II skos:closeMatch MONDO:0009650 mucolipidosis type II semapv:ManualMappingCuration +NANDO:1200125 Mucolipidosis III skos:closeMatch MONDO:0018931 mucolipidosis type III, alpha/beta semapv:ManualMappingCuration +NANDO:1200126 Alpha-mannosidosis skos:closeMatch MONDO:0009561 alpha-mannosidosis semapv:ManualMappingCuration +NANDO:1200127 Alpha-mannosidosis, infantile form skos:closeMatch MONDO:0017732 alpha-mannosidosis, infantile form semapv:ManualMappingCuration +NANDO:1200127 Alpha-mannosidosis, infantile form skos:closeMatch MONDO:0022424 alpha-mannosidosis type 1 semapv:ManualMappingCuration +NANDO:1200128 Alpha-mannosidosis, adult form skos:closeMatch MONDO:0017733 alpha-mannosidosis, adult form semapv:ManualMappingCuration +NANDO:1200129 Beta-mannosidosis skos:closeMatch MONDO:0009562 beta-mannosidosis semapv:ManualMappingCuration +NANDO:1200130 Fucosidosis skos:closeMatch MONDO:0009254 fucosidosis semapv:ManualMappingCuration +NANDO:1200133 Aspartylglucosaminuria skos:closeMatch MONDO:0008830 aspartylglucosaminuria semapv:ManualMappingCuration +NANDO:1200134 Schindler disease skos:closeMatch MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency semapv:ManualMappingCuration +NANDO:1200135 Schindler disease type I skos:closeMatch MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 semapv:ManualMappingCuration +NANDO:1200136 Schindler disease type 2 skos:closeMatch MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 semapv:ManualMappingCuration +NANDO:1200137 Schindler disease type 3 skos:closeMatch MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 semapv:ManualMappingCuration +NANDO:1200138 Pompe disease skos:closeMatch MONDO:0009290 glycogen storage disease II semapv:ManualMappingCuration +NANDO:1200139 Classic infantile Pompe disease skos:closeMatch MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset semapv:ManualMappingCuration +NANDO:1200142 Acid lipase deficiency skos:closeMatch MONDO:0019148 Wolman disease semapv:ManualMappingCuration +NANDO:1200143 Wolman disease skos:closeMatch MONDO:0019148 Wolman disease semapv:ManualMappingCuration +NANDO:1200144 Cholesterol ester storage disease skos:closeMatch MONDO:0019149 cholesteryl ester storage disease semapv:ManualMappingCuration +NANDO:1200145 Danon disease skos:closeMatch MONDO:0010281 Danon disease semapv:ManualMappingCuration +NANDO:1200146 Free sialic acid storage disease skos:closeMatch MONDO:0019366 free sialic acid storage disease semapv:ManualMappingCuration +NANDO:1200147 Infantile free sialic acid storage disease skos:closeMatch MONDO:0010027 free sialic acid storage disease, infantile form semapv:ManualMappingCuration +NANDO:1200148 Intermediate severe Salla disease skos:closeMatch MONDO:0017737 intermediate severe Salla disease semapv:ManualMappingCuration +NANDO:1200149 Salla disease skos:closeMatch MONDO:0011449 Salla disease semapv:ManualMappingCuration +NANDO:1200150 Neuronal ceroid-lipofuscinosis skos:closeMatch MONDO:0016295 neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:1200151 Congenital neuronal ceroid lipofuscinosis skos:closeMatch MONDO:0008956 obsolete congenital neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:1200152 Infantile neuronal ceroid lipofuscinosis skos:closeMatch MONDO:0009744 neuronal ceroid lipofuscinosis 1 semapv:ManualMappingCuration +NANDO:1200152 Infantile neuronal ceroid lipofuscinosis skos:closeMatch MONDO:0019261 infantile neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:1200153 Late infantile neuronal ceroid lipofuscinosis skos:closeMatch MONDO:0008769 neuronal ceroid lipofuscinosis 2 semapv:ManualMappingCuration +NANDO:1200153 Late infantile neuronal ceroid lipofuscinosis skos:closeMatch MONDO:0015674 late infantile neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:1200154 Juvenile neuronal ceroid lipofuscinosis skos:closeMatch MONDO:0019262 juvenile neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:1200155 Adult neuronal ceroid lipofuscinosis skos:closeMatch MONDO:0019260 adult neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:1200157 Fabry disease skos:closeMatch MONDO:0010526 Fabry disease semapv:ManualMappingCuration +NANDO:1200161 Cystinosis skos:closeMatch MONDO:0016239 cystinosis semapv:ManualMappingCuration +NANDO:1200162 Nephropathic cystinosis skos:closeMatch MONDO:0018467 nephropathic infantile cystinosis semapv:ManualMappingCuration +NANDO:1200162 Nephropathic cystinosis skos:closeMatch MONDO:0100151 nephropathic cystinosis semapv:ManualMappingCuration +NANDO:1200163 Intermediate cystinosis skos:closeMatch MONDO:0009066 juvenile nephropathic cystinosis semapv:ManualMappingCuration +NANDO:1200164 Non-nephropathic cystinosis skos:closeMatch MONDO:0009064 ocular cystinosis semapv:ManualMappingCuration +NANDO:1200165 Adrenoleukodystrophy skos:closeMatch MONDO:0018544 adrenoleukodystrophy semapv:ManualMappingCuration +NANDO:1200166 Childhood cerebral adrenoleukodystrophy skos:closeMatch MONDO:0010247 X-linked cerebral adrenoleukodystrophy semapv:ManualMappingCuration +NANDO:1200168 Adrenomyeloneuropathy skos:closeMatch MONDO:0015339 adrenomyeloneuropathy semapv:ManualMappingCuration +NANDO:1200173 Mitochondrial diseases skos:closeMatch MONDO:0004069 inborn mitochondrial metabolism disorder semapv:ManualMappingCuration +NANDO:1200173 Mitochondrial diseases skos:closeMatch MONDO:0044970 mitochondrial disease semapv:ManualMappingCuration +NANDO:1200175 Leigh's encephalomyelopathy skos:closeMatch MONDO:0009723 Leigh syndrome semapv:ManualMappingCuration +NANDO:1200176 Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome skos:closeMatch MONDO:0010789 MELAS syndrome semapv:ManualMappingCuration +NANDO:1200177 Myoclonus epilepsy associated with ragged-red fibers skos:closeMatch MONDO:0010790 MERRF syndrome semapv:ManualMappingCuration +NANDO:1200178 Leber hereditary optic neuropathy skos:closeMatch MONDO:0010788 Leber hereditary optic neuropathy semapv:ManualMappingCuration +NANDO:1200180 Mitochondrial complex I deficiency skos:closeMatch MONDO:0100133 mitochondrial complex I deficiency semapv:ManualMappingCuration +NANDO:1200180 Mitochondrial complex I deficiency skos:closeMatch MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 semapv:ManualMappingCuration +NANDO:1200181 Mitochondrial complex II deficiency skos:closeMatch MONDO:0009641 obsolete mitochondrial complex II deficiency semapv:ManualMappingCuration +NANDO:1200183 Moyamoya disease skos:closeMatch MONDO:0016820 Moyamoya disease semapv:ManualMappingCuration +NANDO:1200186 Prion disease skos:closeMatch MONDO:0005429 prion disease semapv:ManualMappingCuration +NANDO:1200187 Sporadic Creutzfeldt-Jakob disease skos:closeMatch MONDO:0016079 sporadic Creutzfeldt-Jakob disease semapv:ManualMappingCuration +NANDO:1200188 Genetic prion diseases skos:closeMatch MONDO:0017234 inherited prion disease semapv:ManualMappingCuration +NANDO:1200189 Familial Creutzfeldt-Jakob disease skos:closeMatch MONDO:0007403 inherited Creutzfeldt-Jakob disease semapv:ManualMappingCuration +NANDO:1200190 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome semapv:ManualMappingCuration +NANDO:1200191 Fatal familial insomnia skos:closeMatch MONDO:0010808 fatal familial insomnia semapv:ManualMappingCuration +NANDO:1200192 Environmentally acquired Creutzfeldt-Jakob disease skos:closeMatch MONDO:0018686 acquired Creutzfeldt-Jakob disease semapv:ManualMappingCuration +NANDO:1200193 Iatrogenic Creutzfeldt-Jakob disease skos:closeMatch MONDO:0034976 iatrogenic Creutzfeldt-Jakob disease semapv:ManualMappingCuration +NANDO:1200194 Variant Creutzfeldt-Jakob disease skos:closeMatch MONDO:0007012 variant Creutzfeldt-Jakob disease semapv:ManualMappingCuration +NANDO:1200195 Subacute sclerosing panencephalitis skos:closeMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:ManualMappingCuration +NANDO:1200196 Typical subacute sclerosing panencephalitis skos:closeMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:ManualMappingCuration +NANDO:1200198 Subacute progressive sclerosing panencephalitis skos:closeMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:ManualMappingCuration +NANDO:1200205 Progressive multifocal leukoencephalopathy skos:closeMatch MONDO:0016318 progressive multifocal leukoencephalopathy semapv:ManualMappingCuration +NANDO:1200206 HTLV-1-associated myelopathy skos:closeMatch MONDO:0008039 tropical spastic paraparesis semapv:ManualMappingCuration +NANDO:1200207 Idiopathic basal ganglia calcification skos:closeMatch MONDO:0008947 bilateral striopallidodentate calcinosis semapv:ManualMappingCuration +NANDO:1200208 Familial idiopathic basal ganglia calcification skos:closeMatch MONDO:0024538 basal ganglia calcification, idiopathic, 1 semapv:ManualMappingCuration +NANDO:1200209 Systemic amyloidosis skos:closeMatch MONDO:0017816 primary systemic amyloidosis semapv:ManualMappingCuration +NANDO:1200211 Amyloid light-chain amyloidosis skos:closeMatch MONDO:0019438 AL amyloidosis semapv:ManualMappingCuration +NANDO:1200212 Transthyretin-related senile systemic amyloidosis skos:closeMatch MONDO:0018018 wild type ATTR amyloidosis semapv:ManualMappingCuration +NANDO:1200214 Familial amyloid polyneuropathy skos:closeMatch MONDO:0007100 familial amyloid neuropathy semapv:ManualMappingCuration +NANDO:1200215 Ullrich disease skos:closeMatch MONDO:0000355 Ullrich congenital muscular dystrophy semapv:ManualMappingCuration +NANDO:1200215 Ullrich disease skos:closeMatch MONDO:0009681 Ullrich congenital muscular dystrophy 1 semapv:ManualMappingCuration +NANDO:1200216 Distal myopathy skos:closeMatch MONDO:0018949 distal myopathy semapv:ManualMappingCuration +NANDO:1200217 Miyoshi myopathy skos:closeMatch MONDO:0009685 Miyoshi myopathy semapv:ManualMappingCuration +NANDO:1200218 Distal myopathy with rimmed vacuoles skos:closeMatch MONDO:0007827 inclusion body myositis semapv:ManualMappingCuration +NANDO:1200218 Distal myopathy with rimmed vacuoles skos:closeMatch MONDO:0011603 GNE myopathy semapv:ManualMappingCuration +NANDO:1200218 Distal myopathy with rimmed vacuoles skos:closeMatch MONDO:0014945 myopathy, distal, with rimmed vacuoles semapv:ManualMappingCuration +NANDO:1200219 Oculopharyngodistal myopathy skos:closeMatch MONDO:0020793 oculopharyngodistal myopathy 1 semapv:ManualMappingCuration +NANDO:1200219 Oculopharyngodistal myopathy skos:closeMatch MONDO:0025193 oculopharyngodistal myopathy semapv:ManualMappingCuration +NANDO:1200220 Bethlem Myopathy skos:closeMatch MONDO:0008029 Bethlem myopathy semapv:ManualMappingCuration +NANDO:1200222 Danon disease skos:closeMatch MONDO:0010281 Danon disease semapv:ManualMappingCuration +NANDO:1200223 X-linked Myopathy with excessive autophagy skos:closeMatch MONDO:0010684 X-linked myopathy with excessive autophagy semapv:ManualMappingCuration +NANDO:1200224 Schwartz-Jampel syndrome skos:closeMatch MONDO:0009717 Schwartz-Jampel syndrome semapv:ManualMappingCuration +NANDO:1200225 Neurofibromatosis skos:closeMatch MONDO:0018975 neurofibromatosis type 1 semapv:ManualMappingCuration +NANDO:1200225 Neurofibromatosis skos:closeMatch MONDO:0021061 neurofibromatosis semapv:ManualMappingCuration +NANDO:1200226 Neurofibromatosis type 1 skos:closeMatch MONDO:0018975 neurofibromatosis type 1 semapv:ManualMappingCuration +NANDO:1200226 Neurofibromatosis type 1 skos:closeMatch MONDO:0021061 neurofibromatosis semapv:ManualMappingCuration +NANDO:1200227 Neurofibromatosis type 2 skos:closeMatch MONDO:0007039 neurofibromatosis type 2 semapv:ManualMappingCuration +NANDO:1200227 Neurofibromatosis type 2 skos:closeMatch MONDO:0021061 neurofibromatosis semapv:ManualMappingCuration +NANDO:1200228 Pemphigus skos:closeMatch MONDO:0006594 pemphigus semapv:ManualMappingCuration +NANDO:1200229 Pemphigus vulgaris skos:closeMatch MONDO:0008219 pemphigus vulgaris semapv:ManualMappingCuration +NANDO:1200230 Pemphigus foliaceus skos:closeMatch MONDO:0019324 pemphigus foliaceus semapv:ManualMappingCuration +NANDO:1200231 Paraneoplastic pemphigus skos:closeMatch MONDO:0018974 paraneoplastic pemphigus semapv:ManualMappingCuration +NANDO:1200232 Pemphigus vegetans skos:closeMatch MONDO:0019322 pemphigus vegetans semapv:ManualMappingCuration +NANDO:1200233 Pemphigus erythematosus skos:closeMatch MONDO:0019323 pemphigus erythematosus semapv:ManualMappingCuration +NANDO:1200234 Epidermolysis bullosa skos:closeMatch MONDO:0006541 epidermolysis bullosa semapv:ManualMappingCuration +NANDO:1200235 Epidermolysis bullosa simplex skos:closeMatch MONDO:0017610 epidermolysis bullosa simplex semapv:ManualMappingCuration +NANDO:1200236 Junctional epidermolysis bullosa skos:closeMatch MONDO:0017612 junctional epidermolysis bullosa semapv:ManualMappingCuration +NANDO:1200238 Recessive dystrophic epidermolysis bullosa skos:closeMatch MONDO:0009179 recessive dystrophic epidermolysis bullosa semapv:ManualMappingCuration +NANDO:1200239 Kindler syndrome skos:closeMatch MONDO:0008260 Kindler syndrome semapv:ManualMappingCuration +NANDO:1200240 Pustular psoriasis skos:closeMatch MONDO:0016597 obsolete generalized pustular psoriasis semapv:ManualMappingCuration +NANDO:1200240 Pustular psoriasis skos:closeMatch MONDO:0022205 pustular psoriasis semapv:ManualMappingCuration +NANDO:1200243 Impetigo herpetiformis skos:closeMatch MONDO:0004591 impetigo herpetiformis semapv:ManualMappingCuration +NANDO:1200244 Acrodermatitis continua of Hallopeau skos:closeMatch MONDO:0013626 psoriasis 14, pustular semapv:ManualMappingCuration +NANDO:1200245 Stevens-Johnson syndrome skos:closeMatch MONDO:0018229 Stevens-Johnson syndrome semapv:ManualMappingCuration +NANDO:1200246 Toxic epidermal necrolysis skos:closeMatch MONDO:0019810 toxic epidermal necrolysis semapv:ManualMappingCuration +NANDO:1200251 Takayasu arteritis skos:closeMatch MONDO:0006656 aortitis semapv:ManualMappingCuration +NANDO:1200251 Takayasu arteritis skos:closeMatch MONDO:0017991 Takayasu arteritis semapv:ManualMappingCuration +NANDO:1200258 Giant cell arteritis skos:closeMatch MONDO:0008538 temporal arteritis semapv:ManualMappingCuration +NANDO:1200259 Cranial giant cell arteritis skos:closeMatch MONDO:0008538 temporal arteritis semapv:ManualMappingCuration +NANDO:1200260 Large-vessel giant cell arteritis skos:closeMatch MONDO:0008538 temporal arteritis semapv:ManualMappingCuration +NANDO:1200261 Polyarteritis nodosa skos:closeMatch MONDO:0019170 polyarteritis nodosa semapv:ManualMappingCuration +NANDO:1200262 Microscopic polyangiitis skos:closeMatch MONDO:0019124 microscopic polyangiitis semapv:ManualMappingCuration +NANDO:1200263 Granulomatosis with polyangiitis skos:closeMatch MONDO:0012105 granulomatosis with polyangiitis semapv:ManualMappingCuration +NANDO:1200264 Eosinophilic granulomatosis with polyangiitis skos:closeMatch MONDO:0015943 eosinophilic granulomatosis with polyangiitis semapv:ManualMappingCuration +NANDO:1200265 Rheumatoid vasculitis skos:closeMatch MONDO:0043267 rheumatoid vasculitis semapv:ManualMappingCuration +NANDO:1200266 Buerger's disease skos:closeMatch MONDO:0008889 thromboangiitis obliterans semapv:ManualMappingCuration +NANDO:1200267 Primary antiphospholipid antibody syndrome skos:closeMatch MONDO:0005204 primary antiphospholipid syndrome semapv:ManualMappingCuration +NANDO:1200270 Catastrophic antiphospholipid syndrome skos:closeMatch MONDO:0018737 catastrophic antiphospholipid syndrome semapv:ManualMappingCuration +NANDO:1200271 Antiphospholipid antibody-related disease skos:closeMatch MONDO:0007140 obsolete antiphospholipid syndrome semapv:ManualMappingCuration +NANDO:1200272 Systemic lupus erythematosus skos:closeMatch MONDO:0007915 systemic lupus erythematosus semapv:ManualMappingCuration +NANDO:1200274 Dermatomyositis skos:closeMatch MONDO:0016367 dermatomyositis semapv:ManualMappingCuration +NANDO:1200275 Amyopathic dermatomyositis skos:closeMatch MONDO:0043317 amyopathic dermatomyositis semapv:ManualMappingCuration +NANDO:1200276 Polymyositis skos:closeMatch MONDO:0019127 polymyositis semapv:ManualMappingCuration +NANDO:1200277 Systemic sclerosis skos:closeMatch MONDO:0005100 systemic sclerosis semapv:ManualMappingCuration +NANDO:1200278 Mixed connective tissue disease skos:closeMatch MONDO:0005854 mixed connective tissue disease semapv:ManualMappingCuration +NANDO:1200279 Sjogren's syndrome skos:closeMatch MONDO:0010030 Sjogren syndrome semapv:ManualMappingCuration +NANDO:1200280 Primary Sjogren's syndrome skos:closeMatch MONDO:0010030 Sjogren syndrome semapv:ManualMappingCuration +NANDO:1200282 Adult Still's disease skos:closeMatch MONDO:0019355 adult-onset Still disease semapv:ManualMappingCuration +NANDO:1200283 Relapsing polychondritis skos:closeMatch MONDO:0019125 relapsing polychondritis semapv:ManualMappingCuration +NANDO:1200284 Behcet's disease skos:closeMatch MONDO:0007191 Behcet disease semapv:ManualMappingCuration +NANDO:1200286 Hypertrophic cardiomyopathy skos:closeMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:ManualMappingCuration +NANDO:1200288 Hypertrophic obstructive cardiomyopathy skos:closeMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:ManualMappingCuration +NANDO:1200292 Restrictive cardiomyopathy skos:closeMatch MONDO:0005201 restrictive cardiomyopathy semapv:ManualMappingCuration +NANDO:1200293 Idiopathic restrictive cardiomyopathy skos:closeMatch MONDO:0005201 restrictive cardiomyopathy semapv:ManualMappingCuration +NANDO:1200294 Secondary restrictive cardiomyopathy skos:closeMatch MONDO:0016345 non-familial restrictive cardiomyopathy semapv:ManualMappingCuration +NANDO:1200295 Aplastic anemia skos:closeMatch MONDO:0015909 aplastic anemia semapv:ManualMappingCuration +NANDO:1200296 Idiopathic aplastic anemia skos:closeMatch MONDO:0012197 idiopathic aplastic anemia semapv:ManualMappingCuration +NANDO:1200300 Aplastic anemia-paroxysmal nocturnal hemoglobinuria syndrome skos:closeMatch MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria semapv:ManualMappingCuration +NANDO:1200301 Borderline between aplastic anemia and MDS skos:closeMatch MONDO:0015909 aplastic anemia semapv:ManualMappingCuration +NANDO:1200302 Congenital aplastic anemia skos:closeMatch MONDO:0001713 inherited aplastic anemia semapv:ManualMappingCuration +NANDO:1200303 Fanconi anemia skos:closeMatch MONDO:0019391 Fanconi anemia semapv:ManualMappingCuration +NANDO:1200304 Dyskeratosis congenita skos:closeMatch MONDO:0015780 dyskeratosis congenita semapv:ManualMappingCuration +NANDO:1200305 Autoimmune hemolytic anemia skos:closeMatch MONDO:0020108 autoimmune hemolytic anemia semapv:ManualMappingCuration +NANDO:1200306 Warm antibody hemolytic anemia skos:closeMatch MONDO:0019532 autoimmune hemolytic anemia, warm type semapv:ManualMappingCuration +NANDO:1200307 Cold agglutinin disease skos:closeMatch MONDO:0018922 cold agglutinin disease semapv:ManualMappingCuration +NANDO:1200308 Paroxysmal cold hemoglobinuria skos:closeMatch MONDO:0019533 paroxysmal cold hemoglobinuria semapv:ManualMappingCuration +NANDO:1200309 Mixed-type autoimmune hemolytic anemia skos:closeMatch MONDO:0019534 mixed-type autoimmune hemolytic anemia semapv:ManualMappingCuration +NANDO:1200310 Evans syndrome skos:closeMatch MONDO:0016030 Evans syndrome semapv:ManualMappingCuration +NANDO:1200311 Paroxysmal nocturnal hemoglobinuria skos:closeMatch MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria semapv:ManualMappingCuration +NANDO:1200315 Idiopathic thrombocytopenic purpura skos:closeMatch MONDO:0008558 autoimmune thrombocytopenic purpura semapv:ManualMappingCuration +NANDO:1200316 Thrombotic thrombocytopenic purpura skos:closeMatch MONDO:0018896 thrombotic thrombocytopenic purpura semapv:ManualMappingCuration +NANDO:1200317 Congenital thrombotic thrombocytopenic purpura skos:closeMatch MONDO:0010122 congenital thrombotic thrombocytopenic purpura semapv:ManualMappingCuration +NANDO:1200318 Acquired idiopathic thrombotic thrombocytopenic purpura skos:closeMatch MONDO:0019740 acquired thrombotic thrombocytopenic purpura semapv:ManualMappingCuration +NANDO:1200319 Secondary thrombotic thrombocytopenic purpura skos:closeMatch MONDO:0019740 acquired thrombotic thrombocytopenic purpura semapv:ManualMappingCuration +NANDO:1200320 Primary immunodeficiency syndrome skos:closeMatch MONDO:0003778 inborn error of immunity semapv:ManualMappingCuration +NANDO:1200321 X-linked severe combined immunodeficiency skos:closeMatch MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency semapv:ManualMappingCuration +NANDO:1200322 Reticular dysgenesis skos:closeMatch MONDO:0009973 reticular dysgenesis semapv:ManualMappingCuration +NANDO:1200323 Adenosine deaminase deficiency skos:closeMatch MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency semapv:ManualMappingCuration +NANDO:1200324 Omenn syndrome skos:closeMatch MONDO:0011338 Omenn syndrome semapv:ManualMappingCuration +NANDO:1200325 Purine nucleoside phosphorylase deficiency skos:closeMatch MONDO:0013171 purine nucleoside phosphorylase deficiency semapv:ManualMappingCuration +NANDO:1200326 CD8 deficiency skos:closeMatch MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation semapv:ManualMappingCuration +NANDO:1200327 Zap-70 deficiency skos:closeMatch MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency semapv:ManualMappingCuration +NANDO:1200328 MHC class I deficiency skos:closeMatch MONDO:0011476 MHC class I deficiency semapv:ManualMappingCuration +NANDO:1200329 MHC class II deficiency skos:closeMatch MONDO:0008855 MHC class II deficiency semapv:ManualMappingCuration +NANDO:1200330 Wiskott-Aldrich syndrome skos:closeMatch MONDO:0010518 Wiskott-Aldrich syndrome semapv:ManualMappingCuration +NANDO:1200331 Ataxia telangiectasia skos:closeMatch MONDO:0008840 ataxia telangiectasia semapv:ManualMappingCuration +NANDO:1200332 Nijmegen breakage syndrome skos:closeMatch MONDO:0009623 Nijmegen breakage syndrome semapv:ManualMappingCuration +NANDO:1200333 Bloom syndrome skos:closeMatch MONDO:0008876 Bloom syndrome semapv:ManualMappingCuration +NANDO:1200334 ICF syndrome skos:closeMatch MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome semapv:ManualMappingCuration +NANDO:1200336 RIDDLE syndrome skos:closeMatch MONDO:0012764 RIDDLE syndrome semapv:ManualMappingCuration +NANDO:1200337 Schimke syndrome skos:closeMatch MONDO:0009458 Schimke immuno-osseous dysplasia semapv:ManualMappingCuration +NANDO:1200338 Netherton syndrome skos:closeMatch MONDO:0009735 Netherton syndrome semapv:ManualMappingCuration +NANDO:1200339 Thymus hypoplasia skos:closeMatch MONDO:0008564 DiGeorge syndrome semapv:ManualMappingCuration +NANDO:1200339 Thymus hypoplasia skos:closeMatch MONDO:0008644 velocardiofacial syndrome semapv:ManualMappingCuration +NANDO:1200339 Thymus hypoplasia skos:closeMatch MONDO:0018923 22q11.2 deletion syndrome semapv:ManualMappingCuration +NANDO:1200340 Hyper-IgE syndrome skos:closeMatch MONDO:0018037 hyper-IgE syndrome semapv:ManualMappingCuration +NANDO:1200341 Hepatic veno-occlusive disease with immunodeficiency skos:closeMatch MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome semapv:ManualMappingCuration +NANDO:1200342 Dyskeratosis congenita skos:closeMatch MONDO:0015780 dyskeratosis congenita semapv:ManualMappingCuration +NANDO:1200343 X-linked agammaglobulinemia skos:closeMatch MONDO:0010421 Bruton-type agammaglobulinemia semapv:ManualMappingCuration +NANDO:1200344 Common variable immunodeficiency skos:closeMatch MONDO:0015517 common variable immunodeficiency semapv:ManualMappingCuration +NANDO:1200345 Hyper-IgM syndrome skos:closeMatch MONDO:0003947 hyper-IgM syndrome semapv:ManualMappingCuration +NANDO:1200346 IgG subclass deficiency skos:closeMatch MONDO:0045045 selective IgG immunodeficiency semapv:ManualMappingCuration +NANDO:1200347 Selective IgA deficiency skos:closeMatch MONDO:0001341 selective IgA deficiency disease semapv:ManualMappingCuration +NANDO:1200348 Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells skos:closeMatch MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells semapv:ManualMappingCuration +NANDO:1200349 Transient hypogammaglobulinemia of infancy with normal numbers of B cells skos:closeMatch MONDO:0015698 transient hypogammaglobulinemia of infancy semapv:ManualMappingCuration +NANDO:1200350 Chédiak-Higashi syndrome skos:closeMatch MONDO:0008963 Chediak-Higashi syndrome semapv:ManualMappingCuration +NANDO:1200351 X-linked lymphoproliferative syndrome skos:closeMatch MONDO:0010627 X-linked lymphoproliferative syndrome semapv:ManualMappingCuration +NANDO:1200352 Autoimmune lymphoproliferative syndrome skos:closeMatch MONDO:0017979 autoimmune lymphoproliferative syndrome semapv:ManualMappingCuration +NANDO:1200353 Severe congenital neutropenia skos:closeMatch MONDO:0018542 severe congenital neutropenia semapv:ManualMappingCuration +NANDO:1200354 Cyclic neutropenia skos:closeMatch MONDO:0008090 cyclic hematopoiesis semapv:ManualMappingCuration +NANDO:1200355 Leukocyte adhesion deficiency skos:closeMatch MONDO:0017570 leukocyte adhesion deficiency semapv:ManualMappingCuration +NANDO:1200356 Shwachman-Diamond syndrome skos:closeMatch MONDO:0009833 Shwachman-Diamond syndrome semapv:ManualMappingCuration +NANDO:1200357 Chronic granulomatous disease skos:closeMatch MONDO:0018305 chronic granulomatous disease semapv:ManualMappingCuration +NANDO:1200358 Myeloperoxidase deficiency skos:closeMatch MONDO:0009694 myeloperoxidase deficiency semapv:ManualMappingCuration +NANDO:1200360 Anhidrotic ectodermal dysplasia with immunodeficiency skos:closeMatch MONDO:0010293 ectodermal dysplasia and immune deficiency semapv:ManualMappingCuration +NANDO:1200361 IRAK4 deficiency skos:closeMatch MONDO:0011888 immunodeficiency 67 semapv:ManualMappingCuration +NANDO:1200362 MyD88 deficiency skos:closeMatch MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency semapv:ManualMappingCuration +NANDO:1200363 Chronic mucocutaneous candidiasis skos:closeMatch MONDO:0015279 chronic mucocutaneous candidiasis semapv:ManualMappingCuration +NANDO:1200364 Inherited deficiency of complement system skos:closeMatch MONDO:0003832 complement deficiency semapv:ManualMappingCuration +NANDO:1200365 Hereditary angioedema skos:closeMatch MONDO:0007361 C1 inhibitor deficiency semapv:ManualMappingCuration +NANDO:1200365 Hereditary angioedema skos:closeMatch MONDO:0019623 hereditary angioedema semapv:ManualMappingCuration +NANDO:1200366 IgA nephropathy skos:closeMatch MONDO:0005342 IgA glomerulonephritis semapv:ManualMappingCuration +NANDO:1200367 Polycystic kidney disease skos:closeMatch MONDO:0020642 polycystic kidney disease semapv:ManualMappingCuration +NANDO:1200368 Autosomal dominant polycystic kidney disease skos:closeMatch MONDO:0004691 autosomal dominant polycystic kidney disease semapv:ManualMappingCuration +NANDO:1200369 Autosomal recessive polycystic kidney disease skos:closeMatch MONDO:0009889 autosomal recessive polycystic kidney disease semapv:ManualMappingCuration +NANDO:1200371 Ossification of posterior longitudinal ligament skos:closeMatch MONDO:0011230 ossification of the posterior longitudinal ligament of the spine semapv:ManualMappingCuration +NANDO:1200372 Coexisting cervical and lumbar spinal stenosis skos:closeMatch MONDO:0005965 spinal stenosis semapv:ManualMappingCuration +NANDO:1200373 Idiopathic osteonecrosis of femoral head skos:closeMatch MONDO:0012126 familial avascular necrosis of femoral head semapv:ManualMappingCuration +NANDO:1200375 Central diabetes insipidus skos:closeMatch MONDO:0015790 central diabetes insipidus semapv:ManualMappingCuration +NANDO:1200376 Syndrome of inappropriate secretion of antidiuretic hormone skos:closeMatch MONDO:0006802 inappropriate ADH syndrome semapv:ManualMappingCuration +NANDO:1200377 Diencephalo-hypophysial insufficiency-inappropriate thyroid stimulating hormone syndrome skos:closeMatch MONDO:0019611 TSH-secreting pituitary adenoma semapv:ManualMappingCuration +NANDO:1200378 Diencephalo-hypophysial insufficiency-inappropriate prolactin syndrome skos:closeMatch MONDO:0010911 prolactin-producing pituitary gland adenoma semapv:ManualMappingCuration +NANDO:1200379 Cushing disease skos:closeMatch MONDO:0009050 Cushing disease due to pituitary adenoma semapv:ManualMappingCuration +NANDO:1200381 Central precocious puberty skos:closeMatch MONDO:0019165 central precocious puberty semapv:ManualMappingCuration +NANDO:1200382 Idiopathic hypogonadotropic hypogonadism skos:closeMatch MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia semapv:ManualMappingCuration +NANDO:1200383 Congenital hypogonadotropic hypogonadism skos:closeMatch MONDO:0015770 congenital hypogonadotropic hypogonadism semapv:ManualMappingCuration +NANDO:1200385 Growth hormone secreting pituitary adenoma skos:closeMatch MONDO:0006238 growth hormone-producing pituitary gland adenoma semapv:ManualMappingCuration +NANDO:1200386 Diencephalo-hypophysial dysfunction-syndrome of abnormal secretion of growth hormone skos:closeMatch MONDO:0006238 growth hormone-producing pituitary gland adenoma semapv:ManualMappingCuration +NANDO:1200387 Hypopituitarism syndrome skos:closeMatch MONDO:0005152 hypopituitarism semapv:ManualMappingCuration +NANDO:1200388 Hypogonadotropic hypogonadism skos:closeMatch MONDO:0018555 hypogonadotropic hypogonadism semapv:ManualMappingCuration +NANDO:1200390 Thyroid-stimulating hormone deficiency skos:closeMatch MONDO:0016410 central congenital hypothyroidism semapv:ManualMappingCuration +NANDO:1200394 Homozygous familial hypercholesterolemia skos:closeMatch MONDO:0018328 homozygous familial hypercholesterolemia semapv:ManualMappingCuration +NANDO:1200395 Resistance to thyroid hormone skos:closeMatch MONDO:0001328 thyroid hormone resistance syndrome semapv:ManualMappingCuration +NANDO:1200395 Resistance to thyroid hormone skos:closeMatch MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive semapv:ManualMappingCuration +NANDO:1200396 Congenital adrenal enzyme deficiency skos:closeMatch MONDO:0018479 congenital adrenal hyperplasia semapv:ManualMappingCuration +NANDO:1200397 Congenital lipoid adrenal hyperplasia skos:closeMatch MONDO:0018479 congenital adrenal hyperplasia semapv:ManualMappingCuration +NANDO:1200398 3-β-Hydroxysteroid dehydrogenase deficiency skos:closeMatch MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:1200399 21-Hydroxylase deficiency skos:closeMatch MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency semapv:ManualMappingCuration +NANDO:1200400 11-β-Hydroxylase deficiency skos:closeMatch MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:ManualMappingCuration +NANDO:1200401 17-α-Hydroxylase deficiency skos:closeMatch MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency semapv:ManualMappingCuration +NANDO:1200402 P450 oxidoreductase deficiency skos:closeMatch MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency semapv:ManualMappingCuration +NANDO:1200403 Congenital adrenal hypoplasia skos:closeMatch MONDO:0010264 X-linked adrenal hypoplasia congenita semapv:ManualMappingCuration +NANDO:1200403 Congenital adrenal hypoplasia skos:closeMatch MONDO:0016241 alternating hemiplegia of childhood semapv:ManualMappingCuration +NANDO:1200404 DAX1 abnormality skos:closeMatch MONDO:0010226 46,XY sex reversal 2 semapv:ManualMappingCuration +NANDO:1200405 SF-1 abnormality skos:closeMatch MONDO:0013066 46,XY sex reversal 3 semapv:ManualMappingCuration +NANDO:1200406 IMAge syndrome skos:closeMatch MONDO:0013873 IMAGe syndrome semapv:ManualMappingCuration +NANDO:1200408 MC2R deficiency skos:closeMatch MONDO:0024536 glucocorticoid deficiency 1 semapv:ManualMappingCuration +NANDO:1200409 MRAP deficiency skos:closeMatch MONDO:0011826 glucocorticoid deficiency 2 semapv:ManualMappingCuration +NANDO:1200410 Allgrove syndrome skos:closeMatch MONDO:0009279 triple-A syndrome semapv:ManualMappingCuration +NANDO:1200411 Addison's disease skos:closeMatch MONDO:0009410 obsolete Addison disease semapv:ManualMappingCuration +NANDO:1200411 Addison's disease skos:closeMatch MONDO:0015129 chronic primary adrenal insufficiency semapv:ManualMappingCuration +NANDO:1200412 Autoimmune Addison's disease skos:closeMatch MONDO:0009410 obsolete Addison disease semapv:ManualMappingCuration +NANDO:1200415 Sarcoidosis skos:closeMatch MONDO:0019338 sarcoidosis semapv:ManualMappingCuration +NANDO:1200416 Idiopathic interstitial pneumonia skos:closeMatch MONDO:0002429 idiopathic interstitial pneumonia semapv:ManualMappingCuration +NANDO:1200417 Idiopathic pulmonary fibrosis skos:closeMatch MONDO:0008345 obsolete idiopathic pulmonary fibrosis semapv:ManualMappingCuration +NANDO:1200419 Non-specific interstitial pneumonia skos:closeMatch MONDO:0019622 non-specific interstitial pneumonia semapv:ManualMappingCuration +NANDO:1200420 Acute interstitial pneumonia skos:closeMatch MONDO:0019203 acute interstitial pneumonia semapv:ManualMappingCuration +NANDO:1200421 Cryptogenic organizing pneumonia skos:closeMatch MONDO:0015264 cryptogenic organizing pneumonia semapv:ManualMappingCuration +NANDO:1200422 Desquamative interstitial pneumonia skos:closeMatch MONDO:0009887 desquamative interstitial pneumonia semapv:ManualMappingCuration +NANDO:1200423 Respiratory bronchiolitis-associated interstitial lung disease skos:closeMatch MONDO:0009887 desquamative interstitial pneumonia semapv:ManualMappingCuration +NANDO:1200424 Lymphoid interstitial pneumonia skos:closeMatch MONDO:0009537 lymphoid interstitial pneumonia semapv:ManualMappingCuration +NANDO:1200425 Pulmonary arterial hypertension skos:closeMatch MONDO:0015924 pulmonary arterial hypertension semapv:ManualMappingCuration +NANDO:1200426 Pulmonary veno-occlusive disease / pulmonary capillary hemangiomatosis skos:closeMatch MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis semapv:ManualMappingCuration +NANDO:1200427 Pulmonary veno-occlusive disease skos:closeMatch MONDO:0009937 pulmonary venoocclusive disease semapv:ManualMappingCuration +NANDO:1200429 Chronic thromboembolic pulmonary hypertension skos:closeMatch MONDO:0013024 chronic thromboembolic pulmonary hypertension semapv:ManualMappingCuration +NANDO:1200430 Lymphangioleiomyomatosis skos:closeMatch MONDO:0011705 lymphangioleiomyomatosis semapv:ManualMappingCuration +NANDO:1200431 Retinitis pigmentosa skos:closeMatch MONDO:0019200 retinitis pigmentosa semapv:ManualMappingCuration +NANDO:1200437 Budd-Chiari syndrome skos:closeMatch MONDO:0010947 Budd-Chiari syndrome semapv:ManualMappingCuration +NANDO:1200438 Idiopathic portal hypertension skos:closeMatch MONDO:0021969 Banti syndrome semapv:ManualMappingCuration +NANDO:1200439 Primary biliary cholangitis skos:closeMatch MONDO:0005388 primary biliary cholangitis semapv:ManualMappingCuration +NANDO:1200440 Primary sclerosing cholangitis skos:closeMatch MONDO:0013433 primary sclerosing cholangitis semapv:ManualMappingCuration +NANDO:1200440 Primary sclerosing cholangitis skos:closeMatch MONDO:0018646 sclerosing cholangitis semapv:ManualMappingCuration +NANDO:1200441 Autoimmune hepatitis skos:closeMatch MONDO:0016264 autoimmune hepatitis semapv:ManualMappingCuration +NANDO:1200442 Typical autoimmune hepatitis skos:closeMatch MONDO:0016264 autoimmune hepatitis semapv:ManualMappingCuration +NANDO:1200444 Crohn's disease skos:closeMatch MONDO:0005011 Crohn disease semapv:ManualMappingCuration +NANDO:1200445 small bowel Crohn disease skos:closeMatch MONDO:0005539 small bowel Crohn disease semapv:ManualMappingCuration +NANDO:1200446 Colonic Crohn's disease skos:closeMatch MONDO:0005011 Crohn disease semapv:ManualMappingCuration +NANDO:1200446 Colonic Crohn's disease skos:closeMatch MONDO:0005532 Crohn's colitis semapv:ManualMappingCuration +NANDO:1200447 Crohn ileocolitis skos:closeMatch MONDO:0005534 ileocolitis semapv:ManualMappingCuration +NANDO:1200449 Ulcerative colitis skos:closeMatch MONDO:0005101 ulcerative colitis semapv:ManualMappingCuration +NANDO:1200450 Pan-ulcerative colitis skos:closeMatch MONDO:0005536 pancolitis semapv:ManualMappingCuration +NANDO:1200451 Left-sided colitis skos:closeMatch MONDO:0005533 distal colitis semapv:ManualMappingCuration +NANDO:1200454 Eosinophilic gastrointestinal disorders skos:closeMatch MONDO:0018438 eosinophilic gastrointestinal disease semapv:ManualMappingCuration +NANDO:1200456 Eosinophilic esophagitis skos:closeMatch MONDO:0005361 eosinophilic esophagitis semapv:ManualMappingCuration +NANDO:1200457 Eosinophilic gastroenteritis skos:closeMatch MONDO:0016129 eosinophilic gastroenteritis semapv:ManualMappingCuration +NANDO:1200458 Chronic idiopathic intestinal pseudo-obstruction skos:closeMatch MONDO:0017574 chronic intestinal pseudoobstruction semapv:ManualMappingCuration +NANDO:1200459 Megacystis-microcolon-intestinal hypoperistalsis syndrome skos:closeMatch MONDO:0007960 obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:ManualMappingCuration +NANDO:1200460 Congenital isolated hypoganglionosis skos:closeMatch MONDO:0008738 aganglionosis, total intestinal semapv:ManualMappingCuration +NANDO:1200461 Rubinstein-Taybi syndrome skos:closeMatch MONDO:0019188 Rubinstein-Taybi syndrome semapv:ManualMappingCuration +NANDO:1200462 CFC Syndrome skos:closeMatch MONDO:0015280 cardiofaciocutaneous syndrome semapv:ManualMappingCuration +NANDO:1200463 Costello syndrome skos:closeMatch MONDO:0009026 Costello syndrome semapv:ManualMappingCuration +NANDO:1200464 CHARGE syndrome skos:closeMatch MONDO:0008965 CHARGE syndrome semapv:ManualMappingCuration +NANDO:1200465 Cryopyrin-associated periodic syndrome skos:closeMatch MONDO:0016168 cryopyrin-associated periodic syndrome semapv:ManualMappingCuration +NANDO:1200466 Familial cold autoinflammatorysyndrome skos:closeMatch MONDO:0018768 familial cold autoinflammatory syndrome semapv:ManualMappingCuration +NANDO:1200467 Muckle-Wells syndrome skos:closeMatch MONDO:0008633 Muckle-Wells syndrome semapv:ManualMappingCuration +NANDO:1200468 Chronic infantile neurological cutaneous articular syndrome skos:closeMatch MONDO:0011776 CINCA syndrome semapv:ManualMappingCuration +NANDO:1200469 Juvenile idiopathic arthritis skos:closeMatch MONDO:0011429 juvenile idiopathic arthritis semapv:ManualMappingCuration +NANDO:1200470 Systemic juvenile idiopathic arthritis skos:closeMatch MONDO:0019434 systemic-onset juvenile idiopathic arthritis semapv:ManualMappingCuration +NANDO:1200471 Articular-type juvenile idiopathic arthritis skos:closeMatch MONDO:0019433 oligoarticular juvenile idiopathic arthritis semapv:ManualMappingCuration +NANDO:1200472 TNF receptor-associated periodic fever syndrome skos:closeMatch MONDO:0007727 autosomal dominant familial periodic fever semapv:ManualMappingCuration +NANDO:1200473 Atypical hemolytic uremic syndrome skos:closeMatch MONDO:0016244 atypical hemolytic-uremic syndrome semapv:ManualMappingCuration +NANDO:1200474 Congenital atypical hemolytic uremic syndrome skos:closeMatch MONDO:0016244 atypical hemolytic-uremic syndrome semapv:ManualMappingCuration +NANDO:1200476 Blau syndrome skos:closeMatch MONDO:0008523 Blau syndrome semapv:ManualMappingCuration +NANDO:1200477 Congenital myopathy skos:closeMatch MONDO:0019952 congenital myopathy semapv:ManualMappingCuration +NANDO:1200478 Nemaline myopathy skos:closeMatch MONDO:0018958 nemaline myopathy semapv:ManualMappingCuration +NANDO:1200479 Central core disease skos:closeMatch MONDO:0007294 central core myopathy semapv:ManualMappingCuration +NANDO:1200481 Myotubular myopathy skos:closeMatch MONDO:0018947 centronuclear myopathy semapv:ManualMappingCuration +NANDO:1200482 Centronuclear myopathy skos:closeMatch MONDO:0002921 congenital structural myopathy semapv:ManualMappingCuration +NANDO:1200482 Centronuclear myopathy skos:closeMatch MONDO:0018947 centronuclear myopathy semapv:ManualMappingCuration +NANDO:1200483 Congenital fiber-type disproportion myopathy skos:closeMatch MONDO:0009711 congenital fiber-type disproportion myopathy semapv:ManualMappingCuration +NANDO:1200485 Marinesco-Sjogren syndrome skos:closeMatch MONDO:0009567 Marinesco-Sjogren syndrome semapv:ManualMappingCuration +NANDO:1200486 Muscular dystrophy skos:closeMatch MONDO:0020121 muscular dystrophy semapv:ManualMappingCuration +NANDO:1200487 Dystrophinopathies skos:closeMatch MONDO:0016147 qualitative or quantitative defects of dystrophin semapv:ManualMappingCuration +NANDO:1200488 Duchenne muscular dystrophy skos:closeMatch MONDO:0010679 Duchenne muscular dystrophy semapv:ManualMappingCuration +NANDO:1200489 Becker muscular dystrophy skos:closeMatch MONDO:0010311 Becker muscular dystrophy semapv:ManualMappingCuration +NANDO:1200490 Limb-girdle muscular dystrophy skos:closeMatch MONDO:0016971 limb-girdle muscular dystrophy semapv:ManualMappingCuration +NANDO:1200491 Facioscapulohumeral muscular dystrophy skos:closeMatch MONDO:0001347 facioscapulohumeral muscular dystrophy semapv:ManualMappingCuration +NANDO:1200492 Emery-Dreifuss muscular dystrophy skos:closeMatch MONDO:0016830 Emery-Dreifuss muscular dystrophy semapv:ManualMappingCuration +NANDO:1200493 Oculopharyngeal muscular dystrophy skos:closeMatch MONDO:0008116 oculopharyngeal muscular dystrophy semapv:ManualMappingCuration +NANDO:1200494 Fukuyama type congenital muscular dystrophy skos:closeMatch MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 semapv:ManualMappingCuration +NANDO:1200495 Myotonic dystrophy skos:closeMatch MONDO:0016107 myotonic dystrophy semapv:ManualMappingCuration +NANDO:1200496 Non-dystrophic myotonia skos:closeMatch MONDO:0016110 obsolete non-dystrophic myopathy semapv:ManualMappingCuration +NANDO:1200497 Myotonia congenita skos:closeMatch MONDO:0009710 Thomsen and Becker disease semapv:ManualMappingCuration +NANDO:1200498 Thomsen disease skos:closeMatch MONDO:0009710 Thomsen and Becker disease semapv:ManualMappingCuration +NANDO:1200499 Becker disease skos:closeMatch MONDO:0009715 myotonia congenita, autosomal recessive semapv:ManualMappingCuration +NANDO:1200500 Sodium channel myotonia skos:closeMatch MONDO:0018959 potassium-aggravated myotonia semapv:ManualMappingCuration +NANDO:1200501 Paramyotonia congenita skos:closeMatch MONDO:0008195 paramyotonia congenita of Von Eulenburg semapv:ManualMappingCuration +NANDO:1200502 Hereditary periodic paralysis skos:closeMatch MONDO:0000995 familial periodic paralysis semapv:ManualMappingCuration +NANDO:1200503 Hereditary hypokalemic periodic paralysis skos:closeMatch MONDO:0008223 hypokalemic periodic paralysis semapv:ManualMappingCuration +NANDO:1200504 Hereditary hyperkalemic periodic paralysis skos:closeMatch MONDO:0008224 hyperkalemic periodic paralysis semapv:ManualMappingCuration +NANDO:1200506 Syringomyelia skos:closeMatch MONDO:0017987 syringomyelia semapv:ManualMappingCuration +NANDO:1200507 Symptomatic syringomyelia skos:closeMatch MONDO:0017987 syringomyelia semapv:ManualMappingCuration +NANDO:1200509 Myelomeningocele skos:closeMatch MONDO:0017069 spina bifida cystica semapv:ManualMappingCuration +NANDO:1200509 Myelomeningocele skos:closeMatch MONDO:0019773 myelomeningocele semapv:ManualMappingCuration +NANDO:1200510 Isaacs syndrome skos:closeMatch MONDO:0019399 Isaac syndrome semapv:ManualMappingCuration +NANDO:1200511 Hereditary dystonia skos:closeMatch MONDO:0044807 inherited dystonia semapv:ManualMappingCuration +NANDO:1200512 Dystonia 1 skos:closeMatch MONDO:0007492 early-onset generalized limb-onset dystonia semapv:ManualMappingCuration +NANDO:1200512 Dystonia 1 skos:closeMatch MONDO:0044808 obsolete early onset primary dystonia semapv:ManualMappingCuration +NANDO:1200513 Dystonia 2 skos:closeMatch MONDO:0009141 torsion dystonia 2 semapv:ManualMappingCuration +NANDO:1200514 Dystonia 3 skos:closeMatch MONDO:0010747 X-linked dystonia-parkinsonism semapv:ManualMappingCuration +NANDO:1200515 Dystonia 4 skos:closeMatch MONDO:0007493 torsion dystonia 4 semapv:ManualMappingCuration +NANDO:1200516 Dystonia 5 skos:closeMatch MONDO:0007495 dystonia 5 semapv:ManualMappingCuration +NANDO:1200516 Dystonia 5 skos:closeMatch MONDO:0016812 dopa-responsive dystonia semapv:ManualMappingCuration +NANDO:1200517 Dystonia 6 skos:closeMatch MONDO:0011264 torsion dystonia 6 semapv:ManualMappingCuration +NANDO:1200518 Dystonia 7 skos:closeMatch MONDO:0011200 torsion dystonia 7 semapv:ManualMappingCuration +NANDO:1200519 Dystonia 8 skos:closeMatch MONDO:0007326 obsolete paroxysmal nonkinesigenic dyskinesia 1 semapv:ManualMappingCuration +NANDO:1200520 Dystonia 9 skos:closeMatch MONDO:0010983 dystonia 9 semapv:ManualMappingCuration +NANDO:1200521 Dystonia 10 skos:closeMatch MONDO:0007494 obsolete episodic kinesigenic dyskinesia 1 semapv:ManualMappingCuration +NANDO:1200522 Dystonia 11 skos:closeMatch MONDO:0000903 myoclonus-dystonia syndrome semapv:ManualMappingCuration +NANDO:1200523 Dystonia 12 skos:closeMatch MONDO:0007496 dystonia 12 semapv:ManualMappingCuration +NANDO:1200524 Rapid-onset dystonia-parkinsonism skos:closeMatch MONDO:0007496 dystonia 12 semapv:ManualMappingCuration +NANDO:1200525 Alternating hemiplegia of childhood skos:closeMatch MONDO:0016241 alternating hemiplegia of childhood semapv:ManualMappingCuration +NANDO:1200526 Cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss skos:closeMatch MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome semapv:ManualMappingCuration +NANDO:1200527 Dystonia 13 skos:closeMatch MONDO:0011886 torsion dystonia 13 semapv:ManualMappingCuration +NANDO:1200528 Dystonia 15 skos:closeMatch MONDO:0011844 myoclonic dystonia 15 semapv:ManualMappingCuration +NANDO:1200529 Dystonia 16 skos:closeMatch MONDO:0012789 dystonia 16 semapv:ManualMappingCuration +NANDO:1200530 Dystonia 17 skos:closeMatch MONDO:0012895 torsion dystonia 17 semapv:ManualMappingCuration +NANDO:1200531 Dystonia 18 skos:closeMatch MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 semapv:ManualMappingCuration +NANDO:1200532 Dystonia 19 skos:closeMatch MONDO:0012603 episodic kinesigenic dyskinesia 2 semapv:ManualMappingCuration +NANDO:1200533 Dystonia 20 skos:closeMatch MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 semapv:ManualMappingCuration +NANDO:1200534 Neurodegeneration with brain iron accumulation type 1 skos:closeMatch MONDO:0009319 pantothenate kinase-associated neurodegeneration semapv:ManualMappingCuration +NANDO:1200535 Classic pantothenate kinase-associated neurodegeneration skos:closeMatch MONDO:0016304 classic pantothenate kinase-associated neurodegeneration semapv:ManualMappingCuration +NANDO:1200536 Atypical pantothenate kinase-associated neurodegeneration skos:closeMatch MONDO:0016305 atypical pantothenate kinase-associated neurodegeneration semapv:ManualMappingCuration +NANDO:1200537 Neurodegeneration with brain iron accumulation type 2A skos:closeMatch MONDO:0024457 neurodegeneration with brain iron accumulation 2A semapv:ManualMappingCuration +NANDO:1200538 Neurodegeneration with brain iron accumulation type 2B skos:closeMatch MONDO:0012444 neurodegeneration with brain iron accumulation 2B semapv:ManualMappingCuration +NANDO:1200539 Neurodegeneration with brain iron accumulation type 3 skos:closeMatch MONDO:0011638 neuroferritinopathy semapv:ManualMappingCuration +NANDO:1200540 Neurodegeneration with brain iron accumulation type 4 skos:closeMatch MONDO:0011426 aceruloplasminemia semapv:ManualMappingCuration +NANDO:1200540 Neurodegeneration with brain iron accumulation type 4 skos:closeMatch MONDO:0013674 neurodegeneration with brain iron accumulation 4 semapv:ManualMappingCuration +NANDO:1200541 Fatty acid hydroxylase-associated neurodegeneration skos:closeMatch MONDO:0012866 hereditary spastic paraplegia 35 semapv:ManualMappingCuration +NANDO:1200541 Fatty acid hydroxylase-associated neurodegeneration skos:closeMatch MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration semapv:ManualMappingCuration +NANDO:1200542 Neuroferritinopathy skos:closeMatch MONDO:0011638 neuroferritinopathy semapv:ManualMappingCuration +NANDO:1200543 Superficial siderosis skos:closeMatch MONDO:0016594 superficial siderosis semapv:ManualMappingCuration +NANDO:1200544 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy skos:closeMatch MONDO:0010829 CARASIL syndrome semapv:ManualMappingCuration +NANDO:1200545 Cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy skos:closeMatch MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy semapv:ManualMappingCuration +NANDO:1200546 Hereditary diffuse leukoencephalopathy with spheroid skos:closeMatch MONDO:0009096 obsolete hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia semapv:ManualMappingCuration +NANDO:1200547 Perry syndrome skos:closeMatch MONDO:0008201 Perry syndrome semapv:ManualMappingCuration +NANDO:1200548 Frontotemporal lobar degeneration skos:closeMatch MONDO:0017276 frontotemporal dementia semapv:ManualMappingCuration +NANDO:1200549 Behavioral variant frontotemporal dementia skos:closeMatch MONDO:0017160 behavioral variant of frontotemporal dementia semapv:ManualMappingCuration +NANDO:1200550 Semantic dementia skos:closeMatch MONDO:0010857 semantic dementia semapv:ManualMappingCuration +NANDO:1200551 Bickerstaff's brainstem encephalitis skos:closeMatch MONDO:0019208 Bickerstaff brainstem encephalitis semapv:ManualMappingCuration +NANDO:1200552 Acute encephalopathy with biphasic seizures and late reduced diffusion skos:closeMatch MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion semapv:ManualMappingCuration +NANDO:1200553 Congenital insensitivity to pain with anhidrosis skos:closeMatch MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 semapv:ManualMappingCuration +NANDO:1200554 Alexander disease skos:closeMatch MONDO:0008752 Alexander disease semapv:ManualMappingCuration +NANDO:1200555 Alexander disease type I skos:closeMatch MONDO:0018209 Alexander disease type I semapv:ManualMappingCuration +NANDO:1200556 Alexander disease type II skos:closeMatch MONDO:0018210 Alexander disease type II semapv:ManualMappingCuration +NANDO:1200558 Congenital suprabulbar paresis skos:closeMatch MONDO:0008503 Worster-Drought syndrome semapv:ManualMappingCuration +NANDO:1200559 Moebius syndrome skos:closeMatch MONDO:0008006 Mobius syndrome semapv:ManualMappingCuration +NANDO:1200560 Septo-optic dysplasia / De Morsier syndrome skos:closeMatch MONDO:0008428 septooptic dysplasia semapv:ManualMappingCuration +NANDO:1200561 Septo-optic dysplasia skos:closeMatch MONDO:0008428 septooptic dysplasia semapv:ManualMappingCuration +NANDO:1200561 Septo-optic dysplasia skos:closeMatch MONDO:0019029 segmental odontomaxillary dysplasia semapv:ManualMappingCuration +NANDO:1200562 Aicardi syndrome skos:closeMatch MONDO:0010568 Aicardi syndrome semapv:ManualMappingCuration +NANDO:1200563 Hemimegalencephaly skos:closeMatch MONDO:0020492 hemimegalencephaly semapv:ManualMappingCuration +NANDO:1200564 Focal cortical dysplasia skos:closeMatch MONDO:0019009 isolated focal cortical dysplasia semapv:ManualMappingCuration +NANDO:1200565 Focal cortical dysplasia type 1a skos:closeMatch MONDO:0017096 isolated focal cortical dysplasia type Ia semapv:ManualMappingCuration +NANDO:1200566 Focal cortical dysplasia type 1b skos:closeMatch MONDO:0017097 isolated focal cortical dysplasia type Ib semapv:ManualMappingCuration +NANDO:1200567 Focal cortical dysplasia type 1c skos:closeMatch MONDO:0017098 isolated focal cortical dysplasia type Ic semapv:ManualMappingCuration +NANDO:1200574 Neuronal migration defects skos:closeMatch MONDO:0018838 lissencephaly spectrum disorders semapv:ManualMappingCuration +NANDO:1200575 Congenital hypomyelinating leukodystrophy skos:closeMatch MONDO:0019046 leukodystrophy semapv:ManualMappingCuration +NANDO:1200576 Pelizaeus-Merzbacher disease skos:closeMatch MONDO:0010714 Pelizaeus-Merzbacher disease semapv:ManualMappingCuration +NANDO:1200577 Pelizaeus-Merzbacher like disease skos:closeMatch MONDO:0017226 Pelizaeus-Merzbacher-like disease semapv:ManualMappingCuration +NANDO:1200578 Hypomyelination with atrophy of the basal ganglia and cerebellum skos:closeMatch MONDO:0012905 hypomyelinating leukodystrophy 6 semapv:ManualMappingCuration +NANDO:1200579 18q-syndrome skos:closeMatch MONDO:0011147 chromosome 18q deletion syndrome semapv:ManualMappingCuration +NANDO:1200580 Allan-Herndon-Dudley syndrome skos:closeMatch MONDO:0010354 Allan-Herndon-Dudley syndrome semapv:ManualMappingCuration +NANDO:1200581 Mitochondrial Hsp60 chaperonopathy skos:closeMatch MONDO:0012824 hypomyelinating leukodystrophy 4 semapv:ManualMappingCuration +NANDO:1200582 Salla disease skos:closeMatch MONDO:0011449 Salla disease semapv:ManualMappingCuration +NANDO:1200583 Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum skos:closeMatch MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:ManualMappingCuration +NANDO:1200584 Hypomyelination and congenital cataract skos:closeMatch MONDO:0012514 hypomyelinating leukodystrophy 5 semapv:ManualMappingCuration +NANDO:1200585 Ataxia, delayed dentition, and hypomyelination syndrome skos:closeMatch MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome semapv:ManualMappingCuration +NANDO:1200586 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease skos:closeMatch MONDO:0012198 PCWH syndrome semapv:ManualMappingCuration +NANDO:1200587 Dravet syndrome skos:closeMatch MONDO:0100135 Dravet syndrome semapv:ManualMappingCuration +NANDO:1200588 Mesial temporal lobe epilepsy with bilateral hippocampal sclerosis skos:closeMatch MONDO:0020476 mesial temporal lobe epilepsy with hippocampal sclerosis semapv:ManualMappingCuration +NANDO:1200589 Myoclonic absence epilepsy skos:closeMatch MONDO:0019487 epilepsy with myoclonic absences semapv:ManualMappingCuration +NANDO:1200590 Epilepsy with myoclonic atonic seizures skos:closeMatch MONDO:0016025 myoclonic-astatic epilepsy semapv:ManualMappingCuration +NANDO:1200591 Lennox-Gastaut syndrome skos:closeMatch MONDO:0016532 Lennox-Gastaut syndrome semapv:ManualMappingCuration +NANDO:1200592 West syndrome skos:closeMatch MONDO:0018097 West syndrome semapv:ManualMappingCuration +NANDO:1200593 Ohtahara syndrome skos:closeMatch MONDO:0100062 developmental and epileptic encephalopathy semapv:ManualMappingCuration +NANDO:1200594 Early myoclonic encephalopathy skos:closeMatch MONDO:0016022 early myoclonic encephalopathy semapv:ManualMappingCuration +NANDO:1200595 Epilepsy of infancy with migrating focal seizures skos:closeMatch MONDO:0017385 malignant migrating partial seizures of infancy semapv:ManualMappingCuration +NANDO:1200595 Epilepsy of infancy with migrating focal seizures skos:closeMatch MONDO:0100025 epilepsy of infancy with migrating focal seizures semapv:ManualMappingCuration +NANDO:1200596 Hemiconvulsion-hemiplegia-epilepsy syndrome skos:closeMatch MONDO:0019485 idiopathic hemiconvulsion-hemiplegia syndrome semapv:ManualMappingCuration +NANDO:1200597 Ring chromosome 20 syndrome skos:closeMatch MONDO:0015436 ring chromosome 20 semapv:ManualMappingCuration +NANDO:1200598 Rasmussen's encephalitis skos:closeMatch MONDO:0016019 Rasmussen subacute encephalitis semapv:ManualMappingCuration +NANDO:1200599 PCDH19-related syndrome skos:closeMatch MONDO:0010246 developmental and epileptic encephalopathy, 9 semapv:ManualMappingCuration +NANDO:1200600 Acute encephalitis with refractory, repetitive partial seizures skos:closeMatch MONDO:0015584 febrile infection-related epilepsy syndrome semapv:ManualMappingCuration +NANDO:1200601 Epileptic encephalopathy with continuous spike-and-wave during sleep skos:closeMatch MONDO:0019123 continuous spikes and waves during sleep semapv:ManualMappingCuration +NANDO:1200601 Epileptic encephalopathy with continuous spike-and-wave during sleep skos:closeMatch MONDO:0022858 continuous spike-wave during slow sleep syndrome semapv:ManualMappingCuration +NANDO:1200602 Landau-Kleffner syndrome skos:closeMatch MONDO:0009509 Landau-Kleffner syndrome semapv:ManualMappingCuration +NANDO:1200603 Rett syndrome skos:closeMatch MONDO:0010726 Rett syndrome semapv:ManualMappingCuration +NANDO:1200604 Typical Rett syndrome skos:closeMatch MONDO:0010726 Rett syndrome semapv:ManualMappingCuration +NANDO:1200605 Atypical Rett syndrome skos:closeMatch MONDO:0017746 atypical Rett syndrome semapv:ManualMappingCuration +NANDO:1200606 Sturge-Weber syndrome skos:closeMatch MONDO:0008501 Sturge-Weber syndrome semapv:ManualMappingCuration +NANDO:1200607 Tuberous sclerosis complex skos:closeMatch MONDO:0001734 tuberous sclerosis semapv:ManualMappingCuration +NANDO:1200607 Tuberous sclerosis complex skos:closeMatch MONDO:0019341 obsolete tuberous sclerosis complex semapv:ManualMappingCuration +NANDO:1200608 Xeroderma pigmentosum skos:closeMatch MONDO:0019600 xeroderma pigmentosum semapv:ManualMappingCuration +NANDO:1200609 Congenital ichthyosis skos:closeMatch MONDO:0015947 inherited ichthyosis semapv:ManualMappingCuration +NANDO:1200610 Keratinopathic ichthyosis skos:closeMatch MONDO:0017266 keratinopathic ichthyosis semapv:ManualMappingCuration +NANDO:1200611 Autosomal dominant epidermolytic ichthyosis skos:closeMatch MONDO:0020702 autosomal dominant epidermolytic ichthyosis semapv:ManualMappingCuration +NANDO:1200612 Autosomal recessive epidermolytic ichthyosis skos:closeMatch MONDO:0044742 autosomal recessive epidermolytic ichthyosis semapv:ManualMappingCuration +NANDO:1200613 Superficial epidermolytic ichthyosis skos:closeMatch MONDO:0007813 superficial epidermolytic ichthyosis semapv:ManualMappingCuration +NANDO:1200614 Harlequin ichthyosis skos:closeMatch MONDO:0009443 autosomal recessive congenital ichthyosis 4B semapv:ManualMappingCuration +NANDO:1200615 Autosomal recessive congenital ichthyosis excluding harlequin ichthyosis skos:closeMatch MONDO:0017265 autosomal recessive congenital ichthyosis semapv:ManualMappingCuration +NANDO:1200616 Congenital ichthyosiform erythroderma skos:closeMatch MONDO:0019306 congenital non-bullous ichthyosiform erythroderma semapv:ManualMappingCuration +NANDO:1200617 Lamellar ichthyosis skos:closeMatch MONDO:0017778 lamellar ichthyosis semapv:ManualMappingCuration +NANDO:1200617 Lamellar ichthyosis skos:closeMatch MONDO:0019306 congenital non-bullous ichthyosiform erythroderma semapv:ManualMappingCuration +NANDO:1200618 Ichthyosis syndrome skos:closeMatch MONDO:0019269 ichthyosis semapv:ManualMappingCuration +NANDO:1200619 Netherton syndrome skos:closeMatch MONDO:0009735 Netherton syndrome semapv:ManualMappingCuration +NANDO:1200620 Sjögren-Larsson syndrome skos:closeMatch MONDO:0010031 Sjogren-Larsson syndrome semapv:ManualMappingCuration +NANDO:1200621 Keratitis-ichthyosis-deafness syndrome skos:closeMatch MONDO:0018781 KID syndrome semapv:ManualMappingCuration +NANDO:1200622 Dorfman-Chanarin syndrome skos:closeMatch MONDO:0010155 Dorfman-Chanarin disease semapv:ManualMappingCuration +NANDO:1200622 Dorfman-Chanarin syndrome skos:closeMatch MONDO:0015611 neutral lipid storage disease semapv:ManualMappingCuration +NANDO:1200623 Neutral lipid storage disease with ichthyosis skos:closeMatch MONDO:0010155 Dorfman-Chanarin disease semapv:ManualMappingCuration +NANDO:1200624 Multiple sulfatase deficiency skos:closeMatch MONDO:0010088 mucosulfatidosis semapv:ManualMappingCuration +NANDO:1200625 Recessive X-linked ichtyosis skos:closeMatch MONDO:0010622 recessive X-linked ichthyosis semapv:ManualMappingCuration +NANDO:1200626 Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature skos:closeMatch MONDO:0002470 photosensitive trichothiodystrophy semapv:ManualMappingCuration +NANDO:1200627 Trichothiodystrophy skos:closeMatch MONDO:0018053 trichothiodystrophy semapv:ManualMappingCuration +NANDO:1200628 Ichthyosis follicularis skos:closeMatch MONDO:0043094 ichthyosis, follicular semapv:ManualMappingCuration +NANDO:1200629 CHILD syndrome skos:closeMatch MONDO:0010621 CHILD syndrome semapv:ManualMappingCuration +NANDO:1200630 Conradi Hünermann Happle syndrome skos:closeMatch MONDO:0020603 X-linked chondrodysplasia punctata 2 semapv:ManualMappingCuration +NANDO:1200631 Benign familial pemphigus skos:closeMatch MONDO:0008218 Hailey-Hailey disease semapv:ManualMappingCuration +NANDO:1200633 Bullous pemphigoid skos:closeMatch MONDO:0019082 bullous pemphigoid semapv:ManualMappingCuration +NANDO:1200634 Mucous membrane pemphigoid skos:closeMatch MONDO:0018746 mucous membrane pemphigoid semapv:ManualMappingCuration +NANDO:1200635 Epidermolysis bullosa acquisita skos:closeMatch MONDO:0018747 acquired epidermolysis bullosa semapv:ManualMappingCuration +NANDO:1200637 Oculocutaneous albinism skos:closeMatch MONDO:0018910 oculocutaneous albinism semapv:ManualMappingCuration +NANDO:1200638 Hermansky-Pudlak syndrome skos:closeMatch MONDO:0019312 Hermansky-Pudlak syndrome semapv:ManualMappingCuration +NANDO:1200639 Chédiak-Higashi syndrome skos:closeMatch MONDO:0008963 Chediak-Higashi syndrome semapv:ManualMappingCuration +NANDO:1200640 Griscelli syndrome skos:closeMatch MONDO:0018306 Griscelli syndrome semapv:ManualMappingCuration +NANDO:1200641 Non-syndromic oculocutaneous albinism skos:closeMatch MONDO:0018910 oculocutaneous albinism semapv:ManualMappingCuration +NANDO:1200642 Pachydermoperiostosis skos:closeMatch MONDO:0009799 obsolete pachydermoperiostosis semapv:ManualMappingCuration +NANDO:1200642 Pachydermoperiostosis skos:closeMatch MONDO:0016620 primary hypertrophic osteoarthropathy semapv:ManualMappingCuration +NANDO:1200643 Pseudoxanthoma elasticum skos:closeMatch MONDO:0024308 pseudoxanthoma elasticum (inherited or acquired) semapv:ManualMappingCuration +NANDO:1200644 Marfan syndrome skos:closeMatch MONDO:0007947 Marfan syndrome semapv:ManualMappingCuration +NANDO:1200645 Ehlers-Danlos Syndrome skos:closeMatch MONDO:0020066 Ehlers-Danlos syndrome semapv:ManualMappingCuration +NANDO:1200646 Ehlers-Danlos syndrome, classical type skos:closeMatch MONDO:0007522 Ehlers-Danlos syndrome, classic type semapv:ManualMappingCuration +NANDO:1200647 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type semapv:ManualMappingCuration +NANDO:1200648 Ehlers-Danlos syndrome, vascular type skos:closeMatch MONDO:0017314 Ehlers-Danlos syndrome, vascular type semapv:ManualMappingCuration +NANDO:1200649 Ehlers-Danlos syndrome, kyphoscoliotic type skos:closeMatch MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 semapv:ManualMappingCuration +NANDO:1200649 Ehlers-Danlos syndrome, kyphoscoliotic type skos:closeMatch MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome semapv:ManualMappingCuration +NANDO:1200650 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type semapv:ManualMappingCuration +NANDO:1200651 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type semapv:ManualMappingCuration +NANDO:1200652 Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome skos:closeMatch MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type semapv:ManualMappingCuration +NANDO:1200653 Menkes disease skos:closeMatch MONDO:0010651 Menkes disease semapv:ManualMappingCuration +NANDO:1200654 Occipital horn syndrome skos:closeMatch MONDO:0010572 occipital horn syndrome semapv:ManualMappingCuration +NANDO:1200655 Wilson disease skos:closeMatch MONDO:0010200 Wilson disease semapv:ManualMappingCuration +NANDO:1200656 Hypophosphatasia skos:closeMatch MONDO:0018570 hypophosphatasia semapv:ManualMappingCuration +NANDO:1200657 VATER syndrome skos:closeMatch MONDO:0008642 VACTERL/vater association semapv:ManualMappingCuration +NANDO:1200658 Nasu-Hakola disease skos:closeMatch MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly semapv:ManualMappingCuration +NANDO:1200659 Weaver syndrome skos:closeMatch MONDO:0010193 Weaver syndrome semapv:ManualMappingCuration +NANDO:1200660 Coffin-Lowry syndrome skos:closeMatch MONDO:0010561 Coffin-Lowry syndrome semapv:ManualMappingCuration +NANDO:1200661 Joubert syndrome and related disorders skos:closeMatch MONDO:0015369 Joubert syndrome and related disorders semapv:ManualMappingCuration +NANDO:1200662 Arima syndrome skos:closeMatch MONDO:0009480 Joubert syndrome with oculorenal defect semapv:ManualMappingCuration +NANDO:1200663 Mowat-Wilson syndrome skos:closeMatch MONDO:0009341 Mowat-Wilson syndrome semapv:ManualMappingCuration +NANDO:1200664 Williams syndrome skos:closeMatch MONDO:0008678 Williams syndrome semapv:ManualMappingCuration +NANDO:1200665 ATR-X syndrome skos:closeMatch MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome semapv:ManualMappingCuration +NANDO:1200666 Crouzon's syndrome skos:closeMatch MONDO:0007405 Crouzon syndrome semapv:ManualMappingCuration +NANDO:1200667 Apert syndrome skos:closeMatch MONDO:0007041 Apert syndrome semapv:ManualMappingCuration +NANDO:1200668 Pfeiffer syndrome skos:closeMatch MONDO:0005810 infectious mononucleosis semapv:ManualMappingCuration +NANDO:1200668 Pfeiffer syndrome skos:closeMatch MONDO:0007043 Pfeiffer syndrome semapv:ManualMappingCuration +NANDO:1200669 Antley-Bixler syndrome skos:closeMatch MONDO:0008803 Antley-Bixler syndrome semapv:ManualMappingCuration +NANDO:1200670 Coffin-Siris syndrome skos:closeMatch MONDO:0015452 Coffin-Siris syndrome semapv:ManualMappingCuration +NANDO:1200671 Rothmund-Thomson syndrome skos:closeMatch MONDO:0010002 Rothmund-Thomson syndrome semapv:ManualMappingCuration +NANDO:1200672 Kabuki syndrome skos:closeMatch MONDO:0016512 Kabuki syndrome semapv:ManualMappingCuration +NANDO:1200675 Branchio-oto-renal syndrome skos:closeMatch MONDO:0007029 branchio-oto-renal syndrome semapv:ManualMappingCuration +NANDO:1200675 Branchio-oto-renal syndrome skos:closeMatch MONDO:0018878 branchiootic syndrome semapv:ManualMappingCuration +NANDO:1200676 Werner syndrome skos:closeMatch MONDO:0010196 Werner syndrome semapv:ManualMappingCuration +NANDO:1200677 Cockayne syndrome skos:closeMatch MONDO:0016006 Cockayne syndrome semapv:ManualMappingCuration +NANDO:1200678 Prader-Willi syndrome skos:closeMatch MONDO:0008300 Prader-Willi syndrome semapv:ManualMappingCuration +NANDO:1200679 Sotos syndrome skos:closeMatch MONDO:0019349 Sotos syndrome semapv:ManualMappingCuration +NANDO:1200680 Noonan syndrome skos:closeMatch MONDO:0018997 Noonan syndrome semapv:ManualMappingCuration +NANDO:1200681 Young-Simpson syndrome skos:closeMatch MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type semapv:ManualMappingCuration +NANDO:1200682 1p36 deletion syndrome skos:closeMatch MONDO:0011929 chromosome 1p36 deletion syndrome semapv:ManualMappingCuration +NANDO:1200683 4p deletion syndrome skos:closeMatch MONDO:0008684 Wolf-Hirschhorn syndrome semapv:ManualMappingCuration +NANDO:1200684 5p deletion syndrome skos:closeMatch MONDO:0007404 Cri-du-chat syndrome semapv:ManualMappingCuration +NANDO:1200685 Paternal uniparental disomy of chromosome 14 skos:closeMatch MONDO:0011975 paternal uniparental disomy of chromosome 14 semapv:ManualMappingCuration +NANDO:1200686 Angelman syndrome skos:closeMatch MONDO:0007113 Angelman syndrome semapv:ManualMappingCuration +NANDO:1200687 Smith-Magenis syndrome skos:closeMatch MONDO:0008434 Smith-Magenis syndrome semapv:ManualMappingCuration +NANDO:1200688 22q11.2 deletion syndrome skos:closeMatch MONDO:0008564 DiGeorge syndrome semapv:ManualMappingCuration +NANDO:1200688 22q11.2 deletion syndrome skos:closeMatch MONDO:0008644 velocardiofacial syndrome semapv:ManualMappingCuration +NANDO:1200688 22q11.2 deletion syndrome skos:closeMatch MONDO:0018923 22q11.2 deletion syndrome semapv:ManualMappingCuration +NANDO:1200689 Emanuel syndrome skos:closeMatch MONDO:0012176 Emanuel syndrome semapv:ManualMappingCuration +NANDO:1200690 Fragile X syndrome related diseases skos:closeMatch MONDO:0010382 fragile X-associated tremor/ataxia syndrome semapv:ManualMappingCuration +NANDO:1200691 Fragile X tremor/ataxia syndrome skos:closeMatch MONDO:0010382 fragile X-associated tremor/ataxia syndrome semapv:ManualMappingCuration +NANDO:1200692 Fragile X syndrome skos:closeMatch MONDO:0010383 fragile X syndrome semapv:ManualMappingCuration +NANDO:1200698 Corrected transposition of great arteries skos:closeMatch MONDO:0019443 dextro-looped transposition of the great arteries semapv:ManualMappingCuration +NANDO:1200699 Complete transposition of the great arteries skos:closeMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:ManualMappingCuration +NANDO:1200701 Complete transposition of the great arteries (Group2) skos:closeMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:ManualMappingCuration +NANDO:1200703 Complete transposition of the great arteries (Group4) skos:closeMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:ManualMappingCuration +NANDO:1200704 Single ventricle skos:closeMatch MONDO:0015451 univentricular heart semapv:ManualMappingCuration +NANDO:1200705 Hypoplastic left heart syndrome skos:closeMatch MONDO:0004933 hypoplastic left heart syndrome semapv:ManualMappingCuration +NANDO:1200706 Tricuspid atresia skos:closeMatch MONDO:0011514 tricuspid atresia semapv:ManualMappingCuration +NANDO:1200707 Pulmonary atresia with intact ventricular septum skos:closeMatch MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome semapv:ManualMappingCuration +NANDO:1200708 Pulmonary atresia with ventricular septal defect skos:closeMatch MONDO:0008343 pulmonary atresia with ventricular septal defect semapv:ManualMappingCuration +NANDO:1200709 Tetralogy of Fallot skos:closeMatch MONDO:0008542 tetralogy of fallot semapv:ManualMappingCuration +NANDO:1200710 Double outlet right ventricle skos:closeMatch MONDO:0018089 double outlet right ventricle semapv:ManualMappingCuration +NANDO:1200711 Ebstein's anomaly skos:closeMatch MONDO:0009144 Ebstein anomaly semapv:ManualMappingCuration +NANDO:1200712 Alport's syndrome skos:closeMatch MONDO:0018965 Alport syndrome semapv:ManualMappingCuration +NANDO:1200713 Galloway-Mowat syndrome skos:closeMatch MONDO:0009627 Galloway-Mowat syndrome semapv:ManualMappingCuration +NANDO:1200714 Rapidly progressive glomerulonephritis skos:closeMatch MONDO:0001645 crescentic glomerulonephritis semapv:ManualMappingCuration +NANDO:1200714 Rapidly progressive glomerulonephritis skos:closeMatch MONDO:0017236 rapidly progressive glomerulonephritis semapv:ManualMappingCuration +NANDO:1200717 Anti-GBM rapidly progressive glomerulonephritis skos:closeMatch MONDO:0003136 anti-basement membrane glomerulonephritis semapv:ManualMappingCuration +NANDO:1200717 Anti-GBM rapidly progressive glomerulonephritis skos:closeMatch MONDO:0009303 anti-glomerular basement membrane disease semapv:ManualMappingCuration +NANDO:1200718 Goodpasture syndrome skos:closeMatch MONDO:0009303 anti-glomerular basement membrane disease semapv:ManualMappingCuration +NANDO:1200719 Primary nephrotic syndrome skos:closeMatch MONDO:0018170 idiopathic nephrotic syndrome semapv:ManualMappingCuration +NANDO:1200720 Minimal change nephrotic syndrome skos:closeMatch MONDO:0006835 lipoid nephrosis semapv:ManualMappingCuration +NANDO:1200721 Membranous nephropathy skos:closeMatch MONDO:0005376 membranous glomerulonephritis semapv:ManualMappingCuration +NANDO:1200722 Focal segmental glomerulosclerosis skos:closeMatch MONDO:0005363 inherited focal segmental glomerulosclerosis semapv:ManualMappingCuration +NANDO:1200723 Crescentic glomerulonephritis skos:closeMatch MONDO:0001645 crescentic glomerulonephritis semapv:ManualMappingCuration +NANDO:1200723 Crescentic glomerulonephritis skos:closeMatch MONDO:0017236 rapidly progressive glomerulonephritis semapv:ManualMappingCuration +NANDO:1200725 Primary membranoproliferative glomerulonephritis skos:closeMatch MONDO:0018904 primary membranoproliferative glomerulonephritis semapv:ManualMappingCuration +NANDO:1200726 Primary membranoproliferative glomerulonephritis type I skos:closeMatch MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis semapv:ManualMappingCuration +NANDO:1200737 Lobular membranoproliferative glomerulonephritis type I skos:closeMatch MONDO:0002461 membranoproliferative glomerulonephritis semapv:ManualMappingCuration +NANDO:1200739 Primary membranoproliferative glomerulonephritis type II skos:closeMatch MONDO:0019736 dense deposit disease semapv:ManualMappingCuration +NANDO:1200741 Henoch-Schonlein purpura nephritis skos:closeMatch MONDO:0006785 obsolete Henoch-Schoenlein purpura semapv:ManualMappingCuration +NANDO:1200742 Congenital nephrogenic diabetes insipidus skos:closeMatch MONDO:0016383 nephrogenic diabetes insipidus semapv:ManualMappingCuration +NANDO:1200743 Interstitial cystitis (Hunner type) skos:closeMatch MONDO:0018301 interstitial cystitis semapv:ManualMappingCuration +NANDO:1200744 Osler disease skos:closeMatch MONDO:0019180 hereditary hemorrhagic telangiectasia semapv:ManualMappingCuration +NANDO:1200745 Bronchiolitis obliterans skos:closeMatch MONDO:0015265 bronchiolitis obliterans syndrome semapv:ManualMappingCuration +NANDO:1200746 Pulmonary alveolar proteinosis skos:closeMatch MONDO:0001437 pulmonary alveolar proteinosis semapv:ManualMappingCuration +NANDO:1200746 Pulmonary alveolar proteinosis skos:closeMatch MONDO:0012580 hereditary pulmonary alveolar proteinosis semapv:ManualMappingCuration +NANDO:1200747 Autoimmune pulmonary alveolar proteinosis skos:closeMatch MONDO:0012579 autoimmune pulmonary alveolar proteinosis semapv:ManualMappingCuration +NANDO:1200748 Idiopathic pulmonary alveolar proteinosis skos:closeMatch MONDO:0012579 autoimmune pulmonary alveolar proteinosis semapv:ManualMappingCuration +NANDO:1200749 Secondary Pulmonary Alveolar Proteinosis skos:closeMatch MONDO:0018483 secondary pulmonary alveolar proteinosis semapv:ManualMappingCuration +NANDO:1200750 Congenital alveolar proteinosis skos:closeMatch MONDO:0012580 hereditary pulmonary alveolar proteinosis semapv:ManualMappingCuration +NANDO:1200752 Obesity hypoventilation syndrome skos:closeMatch MONDO:0009763 obesity-hypoventilation syndrome semapv:ManualMappingCuration +NANDO:1200753 Congenital central hypoventilation syndrome skos:closeMatch MONDO:0008852 obsolete congenital central hypoventilation syndrome semapv:ManualMappingCuration +NANDO:1200755 Alpha-1-antitrypsin deficiency skos:closeMatch MONDO:0013282 alpha 1-antitrypsin deficiency semapv:ManualMappingCuration +NANDO:1200756 Carney complex skos:closeMatch MONDO:0015285 Carney complex semapv:ManualMappingCuration +NANDO:1200757 Wolfram syndrome skos:closeMatch MONDO:0018105 Wolfram syndrome semapv:ManualMappingCuration +NANDO:1200758 Peroxisomal disorder skos:closeMatch MONDO:0019053 peroxisomal disease semapv:ManualMappingCuration +NANDO:1200759 Peroxisome biogenesis disorders skos:closeMatch MONDO:0019234 peroxisome biogenesis disorder semapv:ManualMappingCuration +NANDO:1200760 Zellweger syndrome skos:closeMatch MONDO:0019609 Zellweger spectrum disorders semapv:ManualMappingCuration +NANDO:1200761 Neonatal adrenoleukodystrophy skos:closeMatch MONDO:0018598 obsolete neonatal adrenoleukodystrophy semapv:ManualMappingCuration +NANDO:1200762 Infantile Refsum disease skos:closeMatch MONDO:0019174 obsolete infantile Refsum disease semapv:ManualMappingCuration +NANDO:1200763 Rhizomelic chondrodysplasia punctata type 1 skos:closeMatch MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 semapv:ManualMappingCuration +NANDO:1200764 Peroxisomal beta-oxidation enzyme deficiency skos:closeMatch MONDO:0019233 disorder of peroxisomal beta oxidation semapv:ManualMappingCuration +NANDO:1200765 Peroxisomal acyl-CoA oxidase deficiency skos:closeMatch MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency semapv:ManualMappingCuration +NANDO:1200766 D-bifunctional protein deficiency skos:closeMatch MONDO:0009855 d-bifunctional protein deficiency semapv:ManualMappingCuration +NANDO:1200767 Sterol carrier protein 2 deficiency skos:closeMatch MONDO:0013391 sterol carrier protein 2 deficiency semapv:ManualMappingCuration +NANDO:1200768 Alpha-methylacyl-CoA racemase deficiency skos:closeMatch MONDO:0013681 alpha-methylacyl-CoA racemase deficiency semapv:ManualMappingCuration +NANDO:1200769 Refsum disease skos:closeMatch MONDO:0009958 adult Refsum disease semapv:ManualMappingCuration +NANDO:1200770 Plasmalogen biosynthesis enzyme deficiency skos:closeMatch MONDO:0017986 disorder of plasmalogens biosynthesis semapv:ManualMappingCuration +NANDO:1200771 Rhizomelic chondrodysplasia punctata type 2 skos:closeMatch MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 semapv:ManualMappingCuration +NANDO:1200772 Rhizomelic chondrodysplasia punctata type 3 skos:closeMatch MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 semapv:ManualMappingCuration +NANDO:1200773 Primary hyperoxaluria type 1 skos:closeMatch MONDO:0009823 primary hyperoxaluria type 1 semapv:ManualMappingCuration +NANDO:1200774 Acatalasemia skos:closeMatch MONDO:0013571 acatalasia semapv:ManualMappingCuration +NANDO:1200775 Hypoparathyroidism skos:closeMatch MONDO:0001220 hypoparathyroidism semapv:ManualMappingCuration +NANDO:1200775 Hypoparathyroidism skos:closeMatch MONDO:0015895 obsolete syndrome with hypoparathyroidism semapv:ManualMappingCuration +NANDO:1200776 Pseudohypoparathyroidism skos:closeMatch MONDO:0019992 pseudohypoparathyroidism semapv:ManualMappingCuration +NANDO:1200778 Vitamin D-resistant rickets/Vitamin D-resistant osteomalacia skos:closeMatch MONDO:0024300 hypophosphatemic rickets semapv:ManualMappingCuration +NANDO:1200779 Vitamin D-resistant rickets skos:closeMatch MONDO:0010619 X-linked dominant hypophosphatemic rickets semapv:ManualMappingCuration +NANDO:1200779 Vitamin D-resistant rickets skos:closeMatch MONDO:0010931 vitamin D-dependent rickets, type 2B semapv:ManualMappingCuration +NANDO:1200780 Vitamin D-resistant osteomalacia skos:closeMatch MONDO:0024300 hypophosphatemic rickets semapv:ManualMappingCuration +NANDO:1200781 Vitamin D-dependent rickets / Osteomalacia skos:closeMatch MONDO:0024299 vitamin D-dependent rickets semapv:ManualMappingCuration +NANDO:1200782 Vitamin D-dependent rickets, type 1 skos:closeMatch MONDO:0009924 vitamin D-dependent rickets, type 1 semapv:ManualMappingCuration +NANDO:1200783 Vitamin D-dependent rickets, type 2 skos:closeMatch MONDO:0019642 vitamin D-dependent rickets, type 2 semapv:ManualMappingCuration +NANDO:1200784 Phenylketonuria skos:closeMatch MONDO:0009861 phenylketonuria semapv:ManualMappingCuration +NANDO:1200785 Phenylalanine hydroxylase deficiency skos:closeMatch MONDO:0009861 phenylketonuria semapv:ManualMappingCuration +NANDO:1200786 Tetrahydrobiopterin deficiency skos:closeMatch MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:ManualMappingCuration +NANDO:1200787 Tetrahydrobiopterin-responsive hyperphenylalaninemia skos:closeMatch MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria semapv:ManualMappingCuration +NANDO:1200788 Tyrosinemia type 1 skos:closeMatch MONDO:0010161 tyrosinemia type I semapv:ManualMappingCuration +NANDO:1200789 Tyrosinemia type 2 skos:closeMatch MONDO:0010160 tyrosinemia type II semapv:ManualMappingCuration +NANDO:1200790 Tyrosinemia type 3 skos:closeMatch MONDO:0010162 tyrosinemia type III semapv:ManualMappingCuration +NANDO:1200791 Maple syrup urine disease skos:closeMatch MONDO:0009563 maple syrup urine disease semapv:ManualMappingCuration +NANDO:1200792 Propionic acidemia skos:closeMatch MONDO:0011628 propionic acidemia semapv:ManualMappingCuration +NANDO:1200793 Methylmalonic acidemia skos:closeMatch MONDO:0002012 methylmalonic acidemia semapv:ManualMappingCuration +NANDO:1200794 Methylmalonyl-Coenzyme A mutase deficiency skos:closeMatch MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency semapv:ManualMappingCuration +NANDO:1200795 Methylmalonic acidemia cblA type skos:closeMatch MONDO:0009613 methylmalonic aciduria, cblA type semapv:ManualMappingCuration +NANDO:1200796 Methylmalonic acidemia cblB type skos:closeMatch MONDO:0009614 methylmalonic aciduria, cblB type semapv:ManualMappingCuration +NANDO:1200797 Methylmalonic acidemia CblD type skos:closeMatch MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD semapv:ManualMappingCuration +NANDO:1200798 Isovaleric acidemia skos:closeMatch MONDO:0009475 isovaleric acidemia semapv:ManualMappingCuration +NANDO:1200799 Glucose transporter 1 deficiency skos:closeMatch MONDO:0000188 GLUT1 deficiency syndrome semapv:ManualMappingCuration +NANDO:1200799 Glucose transporter 1 deficiency skos:closeMatch MONDO:0011724 encephalopathy due to GLUT1 deficiency semapv:ManualMappingCuration +NANDO:1200800 Glutaric acidemia type 1 skos:closeMatch MONDO:0009281 glutaryl-CoA dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:1200801 Glutaric acidemia type 2 skos:closeMatch MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:1200802 Urea cycle disorder skos:closeMatch MONDO:0004739 urea cycle disorder semapv:ManualMappingCuration +NANDO:1200803 Carbamoyl phosphate synthetase I deficiency skos:closeMatch MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease semapv:ManualMappingCuration +NANDO:1200804 Ornithine transcarbamylase deficiency skos:closeMatch MONDO:0010703 ornithine carbamoyltransferase deficiency semapv:ManualMappingCuration +NANDO:1200805 Classic citrullinemia skos:closeMatch MONDO:0008988 citrullinemia type I semapv:ManualMappingCuration +NANDO:1200806 Argininosuccinic aciduria skos:closeMatch MONDO:0008815 argininosuccinic aciduria semapv:ManualMappingCuration +NANDO:1200807 Argininemia skos:closeMatch MONDO:0008814 hyperargininemia semapv:ManualMappingCuration +NANDO:1200808 NAGS deficiency skos:closeMatch MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency semapv:ManualMappingCuration +NANDO:1200809 Lysinuric protein intolerance skos:closeMatch MONDO:0009109 lysinuric protein intolerance semapv:ManualMappingCuration +NANDO:1200810 Hereditary folate malabsorption skos:closeMatch MONDO:0009238 hereditary folate malabsorption semapv:ManualMappingCuration +NANDO:1200811 Porphyria skos:closeMatch MONDO:0037939 porphyria semapv:ManualMappingCuration +NANDO:1200812 Acute intermittent porphyria skos:closeMatch MONDO:0008294 acute intermittent porphyria semapv:ManualMappingCuration +NANDO:1200813 Hereditary coproporphyria skos:closeMatch MONDO:0007369 hereditary coproporphyria semapv:ManualMappingCuration +NANDO:1200814 Variegate porphyria skos:closeMatch MONDO:0008297 variegate porphyria semapv:ManualMappingCuration +NANDO:1200815 Erythropoietic protoporphyria skos:closeMatch MONDO:0001676 erythropoietic protoporphyria semapv:ManualMappingCuration +NANDO:1200815 Erythropoietic protoporphyria skos:closeMatch MONDO:0008319 protoporphyria, erythropoietic, 1 semapv:ManualMappingCuration +NANDO:1200815 Erythropoietic protoporphyria skos:closeMatch MONDO:0019263 autosomal erythropoietic protoporphyria semapv:ManualMappingCuration +NANDO:1200816 Porphyria cutanea tarda skos:closeMatch MONDO:0015104 porphyria cutanea tarda semapv:ManualMappingCuration +NANDO:1200818 X-linked dominant protoporphyria skos:closeMatch MONDO:0010420 X-linked erythropoietic protoporphyria semapv:ManualMappingCuration +NANDO:1200819 Hepatoerythropoietic porphyria skos:closeMatch MONDO:0019799 hepatoerythropoietic porphyria semapv:ManualMappingCuration +NANDO:1200820 Multiple carboxylase deficiency skos:closeMatch MONDO:0015454 multiple carboxylase deficiency semapv:ManualMappingCuration +NANDO:1200821 Holocarboxylase synthetase deficiency skos:closeMatch MONDO:0009666 holocarboxylase synthetase deficiency semapv:ManualMappingCuration +NANDO:1200822 Biotinidase deficiency skos:closeMatch MONDO:0009665 biotinidase deficiency semapv:ManualMappingCuration +NANDO:1200823 Muscle glycogen storage disease skos:closeMatch MONDO:0009295 glycogen storage disease VII semapv:ManualMappingCuration +NANDO:1200823 Muscle glycogen storage disease skos:closeMatch MONDO:0016118 obsolete muscular glycogenosis semapv:ManualMappingCuration +NANDO:1200824 Glycogen storage diseases type 0 skos:closeMatch MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency semapv:ManualMappingCuration +NANDO:1200824 Glycogen storage diseases type 0 skos:closeMatch MONDO:0017693 obsolete glycogen storage disease due to glycogen synthase deficiency semapv:ManualMappingCuration +NANDO:1200825 Glycogen storage diseases type II skos:closeMatch MONDO:0009290 glycogen storage disease II semapv:ManualMappingCuration +NANDO:1200826 Glycogen storage diseases type III skos:closeMatch MONDO:0009291 glycogen storage disease III semapv:ManualMappingCuration +NANDO:1200827 Glycogen storage diseases type IV skos:closeMatch MONDO:0008222 Andersen-Tawil syndrome semapv:ManualMappingCuration +NANDO:1200827 Glycogen storage diseases type IV skos:closeMatch MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency semapv:ManualMappingCuration +NANDO:1200828 Glycogen storage diseases type V skos:closeMatch MONDO:0009293 glycogen storage disease V semapv:ManualMappingCuration +NANDO:1200829 Glycogen storage diseases type VII skos:closeMatch MONDO:0009295 glycogen storage disease VII semapv:ManualMappingCuration +NANDO:1200830 Glycogen storage diseases type IXd skos:closeMatch MONDO:0010362 glycogen storage disease IXd semapv:ManualMappingCuration +NANDO:1200832 Glycogen storage diseases type X skos:closeMatch MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency semapv:ManualMappingCuration +NANDO:1200833 Glycogen storage diseases type XI skos:closeMatch MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency semapv:ManualMappingCuration +NANDO:1200834 Glycogen storage diseases type XII skos:closeMatch MONDO:0012747 glycogen storage disease due to aldolase A deficiency semapv:ManualMappingCuration +NANDO:1200835 Glycogen storage diseases type XIII skos:closeMatch MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency semapv:ManualMappingCuration +NANDO:1200836 Glycogen storage diseases type XIV skos:closeMatch MONDO:0013968 PGM1-congenital disorder of glycosylation semapv:ManualMappingCuration +NANDO:1200837 Glycogen storage diseases type XV skos:closeMatch MONDO:0013291 glycogen storage disease XV semapv:ManualMappingCuration +NANDO:1200838 Hepatic glycogen storage disease skos:closeMatch MONDO:0002412 disorder of glycogen metabolism semapv:ManualMappingCuration +NANDO:1200840 Hepatic glycogen storage disease type Ia skos:closeMatch MONDO:0002413 glycogen storage disease I semapv:ManualMappingCuration +NANDO:1200841 Hepatic glycogen storage disease type Ib skos:closeMatch MONDO:0009288 glycogen storage disease Ib semapv:ManualMappingCuration +NANDO:1200841 Hepatic glycogen storage disease type Ib skos:closeMatch MONDO:0023258 glycogen storage disease type 1 due to SLC37A4 mutation semapv:ManualMappingCuration +NANDO:1200844 Hepatic GSD type IIIc skos:closeMatch MONDO:0009291 glycogen storage disease III semapv:ManualMappingCuration +NANDO:1200846 Hepatic glycogen storage disease type VI skos:closeMatch MONDO:0009294 glycogen storage disease VI semapv:ManualMappingCuration +NANDO:1200847 Hepatic glycogen storage disease type IXa skos:closeMatch MONDO:0010598 glycogen storage disease IXa1 semapv:ManualMappingCuration +NANDO:1200848 Hepatic glycogen storage disease type IXb skos:closeMatch MONDO:0009868 glycogen storage disease IXb semapv:ManualMappingCuration +NANDO:1200849 Hepatic glycogen storage disease type IXc skos:closeMatch MONDO:0013091 glycogen storage disease IXc semapv:ManualMappingCuration +NANDO:1200850 Hepatic glycogen storage disease type IV skos:closeMatch MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency semapv:ManualMappingCuration +NANDO:1200851 Galactose-1-phosphate uridyltransferase deficiency skos:closeMatch MONDO:0009258 classic galactosemia semapv:ManualMappingCuration +NANDO:1200852 Lecithin cholesterol acyltransferase deficiency skos:closeMatch MONDO:0009515 Norum disease semapv:ManualMappingCuration +NANDO:1200852 Lecithin cholesterol acyltransferase deficiency skos:closeMatch MONDO:0018999 LCAT deficiency semapv:ManualMappingCuration +NANDO:1200853 Sitosterolemia skos:closeMatch MONDO:0008863 sitosterolemia semapv:ManualMappingCuration +NANDO:1200854 Tangier disease skos:closeMatch MONDO:0008783 Tangier disease semapv:ManualMappingCuration +NANDO:1200856 Cerebrotendinous xanthomatosis skos:closeMatch MONDO:0008948 cerebrotendinous xanthomatosis semapv:ManualMappingCuration +NANDO:1200857 Abetalipoproteinemia skos:closeMatch MONDO:0008692 abetalipoproteinemia semapv:ManualMappingCuration +NANDO:1200858 Lipodystrophy skos:closeMatch MONDO:0006573 lipodystrophy semapv:ManualMappingCuration +NANDO:1200859 Generalized congenital lipodystrophy skos:closeMatch MONDO:0006536 congenital generalized lipodystrophy semapv:ManualMappingCuration +NANDO:1200859 Generalized congenital lipodystrophy skos:closeMatch MONDO:0018883 Berardinelli-Seip congenital lipodystrophy semapv:ManualMappingCuration +NANDO:1200860 Acquired generalized lipodystrophy skos:closeMatch MONDO:0019193 acquired generalized lipodystrophy semapv:ManualMappingCuration +NANDO:1200861 Familial partial lipodystrophy skos:closeMatch MONDO:0020088 familial partial lipodystrophy semapv:ManualMappingCuration +NANDO:1200862 Acquired partial lipodystrophy skos:closeMatch MONDO:0012104 acquired partial lipodystrophy semapv:ManualMappingCuration +NANDO:1200863 Familial Mediterranean fever skos:closeMatch MONDO:0018088 familial Mediterranean fever semapv:ManualMappingCuration +NANDO:1200864 Typical familial Mediterranean fever skos:closeMatch MONDO:0009572 autosomal recessive familial Mediterranean fever semapv:ManualMappingCuration +NANDO:1200866 Hyper IgD syndrome skos:closeMatch MONDO:0009849 hyperimmunoglobulinemia D with periodic fever semapv:ManualMappingCuration +NANDO:1200866 Hyper IgD syndrome skos:closeMatch MONDO:0012481 mevalonic aciduria semapv:ManualMappingCuration +NANDO:1200867 Nakajo-Nishimura syndrome skos:closeMatch MONDO:0009726 proteosome-associated autoinflammatory syndrome semapv:ManualMappingCuration +NANDO:1200868 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome skos:closeMatch MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome semapv:ManualMappingCuration +NANDO:1200869 Chronic recurrent multifocal osteomyelitis skos:closeMatch MONDO:0009813 chronic recurrent multifocal osteomyelitis semapv:ManualMappingCuration +NANDO:1200870 Ankylosing spondylitis skos:closeMatch MONDO:0005306 ankylosing spondylitis semapv:ManualMappingCuration +NANDO:1200871 Fibrodysplasia ossificans progressiva skos:closeMatch MONDO:0003964 myositis ossificans semapv:ManualMappingCuration +NANDO:1200871 Fibrodysplasia ossificans progressiva skos:closeMatch MONDO:0007606 fibrodysplasia ossificans progressiva semapv:ManualMappingCuration +NANDO:1200873 Osteogenesis imperfecta skos:closeMatch MONDO:0019019 osteogenesis imperfecta semapv:ManualMappingCuration +NANDO:1200874 Thanatophoric dysplasia skos:closeMatch MONDO:0017042 thanatophoric dysplasia semapv:ManualMappingCuration +NANDO:1200875 Thanatophoric dysplasia type 1 skos:closeMatch MONDO:0008546 thanatophoric dysplasia type 1 semapv:ManualMappingCuration +NANDO:1200876 Thanatophoric dysplasia type 2 skos:closeMatch MONDO:0008547 thanatophoric dysplasia type 2 semapv:ManualMappingCuration +NANDO:1200877 Achondroplasia skos:closeMatch MONDO:0007037 Achondroplasia semapv:ManualMappingCuration +NANDO:1200878 Lymphangiomatosis / Gorham-Stout disease skos:closeMatch MONDO:0003157 disappearing bone disease semapv:ManualMappingCuration +NANDO:1200878 Lymphangiomatosis / Gorham-Stout disease skos:closeMatch MONDO:0007414 Gorham-Stout disease semapv:ManualMappingCuration +NANDO:1200879 obsolete Lymphangiomatosis skos:closeMatch MONDO:0015408 diffuse lymphatic malformation semapv:ManualMappingCuration +NANDO:1200880 obsolete Gorham disease skos:closeMatch MONDO:0003157 disappearing bone disease semapv:ManualMappingCuration +NANDO:1200880 obsolete Gorham disease skos:closeMatch MONDO:0007414 Gorham-Stout disease semapv:ManualMappingCuration +NANDO:1200881 Giant lymphatic malformation (cervicofacial lesion) skos:closeMatch MONDO:0016233 obsolete rare lymphatic system malformation semapv:ManualMappingCuration +NANDO:1200884 Klippel-Trenaunay-Weber syndrome skos:closeMatch MONDO:0007864 angioosteohypertrophic syndrome semapv:ManualMappingCuration +NANDO:1200885 Congenital dyserythropoietic anemia skos:closeMatch MONDO:0019403 congenital dyserythropoietic anemia semapv:ManualMappingCuration +NANDO:1200886 Congenital dyserythropoietic anemia type I skos:closeMatch MONDO:0020337 congenital dyserythropoietic anemia type 1 semapv:ManualMappingCuration +NANDO:1200887 Congenital dyserythropoietic anemia type II skos:closeMatch MONDO:0009134 congenital dyserythropoietic anemia type 2 semapv:ManualMappingCuration +NANDO:1200888 Congenital dyserythropoietic anemia type III skos:closeMatch MONDO:0007109 congenital dyserythropoietic anemia type 3 semapv:ManualMappingCuration +NANDO:1200890 Diamond-Blackfan anemia skos:closeMatch MONDO:0015253 Diamond-Blackfan anemia semapv:ManualMappingCuration +NANDO:1200891 Fanconi anemia skos:closeMatch MONDO:0019391 Fanconi anemia semapv:ManualMappingCuration +NANDO:1200893 Epstein syndrome skos:closeMatch MONDO:0007954 obsolete May-Hegglin anomaly semapv:ManualMappingCuration +NANDO:1200896 Autoimmune acquired coagulation factor deficiency skos:closeMatch MONDO:0020599 acquired coagulation factor deficiency semapv:ManualMappingCuration +NANDO:1200897 Autoimmune hemorrhaphilia XIII/13 skos:closeMatch MONDO:0021133 acquired factor XIII deficiency semapv:ManualMappingCuration +NANDO:1200898 Acquired hemophilia A skos:closeMatch MONDO:0019139 acquired hemophilia semapv:ManualMappingCuration +NANDO:1200899 Acquired von Willebrand disease skos:closeMatch MONDO:0020460 acquired von willebrand syndrome semapv:ManualMappingCuration +NANDO:1200901 Cronkhite-Canada syndrome skos:closeMatch MONDO:0008283 Cronkhite-Canada syndrome semapv:ManualMappingCuration +NANDO:1200903 Hirschsprung disease skos:closeMatch MONDO:0018309 Hirschsprung disease semapv:ManualMappingCuration +NANDO:1200909 Cloacal exstrophy skos:closeMatch MONDO:0009774 cloacal exstrophy semapv:ManualMappingCuration +NANDO:1200910 Persistent cloaca skos:closeMatch MONDO:0009774 cloacal exstrophy semapv:ManualMappingCuration +NANDO:1200911 Congenital diaphragmatic hernia skos:closeMatch MONDO:0005711 congenital diaphragmatic hernia semapv:ManualMappingCuration +NANDO:1200913 Biliary atresia skos:closeMatch MONDO:0008867 biliary atresia semapv:ManualMappingCuration +NANDO:1200913 Biliary atresia skos:closeMatch MONDO:0028737 obsolete biliary atresia disorder semapv:ManualMappingCuration +NANDO:1200918 Alagille syndrome skos:closeMatch MONDO:0007318 Alagille syndrome semapv:ManualMappingCuration +NANDO:1200919 Typical Alagille syndrome skos:closeMatch MONDO:0007318 Alagille syndrome semapv:ManualMappingCuration +NANDO:1200921 Hereditary pancreatitis skos:closeMatch MONDO:0008185 hereditary chronic pancreatitis semapv:ManualMappingCuration +NANDO:1200922 Cystic fibrosis skos:closeMatch MONDO:0009061 cystic fibrosis semapv:ManualMappingCuration +NANDO:1200923 IgG4-related disease skos:closeMatch MONDO:0017287 IgG4-related disease semapv:ManualMappingCuration +NANDO:1200924 IgG4-related disease skos:closeMatch MONDO:0017287 IgG4-related disease semapv:ManualMappingCuration +NANDO:1200925 Autoimmune pancreatitis skos:closeMatch MONDO:0015175 autoimmune pancreatitis semapv:ManualMappingCuration +NANDO:1200928 IgG4-related sclerosing cholangitis skos:closeMatch MONDO:0018645 IgG4-related sclerosing cholangitis semapv:ManualMappingCuration +NANDO:1200929 IgG4-related dacryoadenitis and sialadenitis skos:closeMatch MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis semapv:ManualMappingCuration +NANDO:1200930 IgG4-related kidney disease skos:closeMatch MONDO:0018671 IgG4-related kidney disease semapv:ManualMappingCuration +NANDO:1200931 Macular dystrophy skos:closeMatch MONDO:0020242 hereditary macular dystrophy semapv:ManualMappingCuration +NANDO:1200932 Vitelliform macular dystrophy skos:closeMatch MONDO:0000390 vitelliform macular dystrophy semapv:ManualMappingCuration +NANDO:1200933 Stargardt disease skos:closeMatch MONDO:0019353 Stargardt disease semapv:ManualMappingCuration +NANDO:1200934 Occult macular dystrophy skos:closeMatch MONDO:0013316 occult macular dystrophy semapv:ManualMappingCuration +NANDO:1200936 Cone dystrophy skos:closeMatch MONDO:0000455 cone dystrophy semapv:ManualMappingCuration +NANDO:1200937 Cone-rod dystrophy skos:closeMatch MONDO:0015993 cone-rod dystrophy semapv:ManualMappingCuration +NANDO:1200938 X-linked juvenile retinoschisis skos:closeMatch MONDO:0010725 X-linked retinoschisis semapv:ManualMappingCuration +NANDO:1200939 Central areolar choroidal dystrophy skos:closeMatch MONDO:0004890 partial central choroid dystrophy semapv:ManualMappingCuration +NANDO:1200939 Central areolar choroidal dystrophy skos:closeMatch MONDO:0008982 central areolar choroidal dystrophy semapv:ManualMappingCuration +NANDO:1200940 Leber hereditary optic neuropathy skos:closeMatch MONDO:0010788 Leber hereditary optic neuropathy semapv:ManualMappingCuration +NANDO:1200941 Usher syndrome skos:closeMatch MONDO:0019501 Usher syndrome semapv:ManualMappingCuration +NANDO:1200942 Usher syndrome type I skos:closeMatch MONDO:0010168 Usher syndrome type 1 semapv:ManualMappingCuration +NANDO:1200943 Usher syndrome Type II skos:closeMatch MONDO:0016484 Usher syndrome type 2 semapv:ManualMappingCuration +NANDO:1200944 Usher syndrome Type III skos:closeMatch MONDO:0016485 Usher syndrome type 3 semapv:ManualMappingCuration +NANDO:1200948 Canavan disease skos:closeMatch MONDO:0010079 Canavan disease semapv:ManualMappingCuration +NANDO:1200950 Megaloencephalic leukoencephalopathy with subcortical cysts skos:closeMatch MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts semapv:ManualMappingCuration +NANDO:1200951 Vanishing white matter disease skos:closeMatch MONDO:0011380 obsolete leukoencephalopathy with vanishing white matter semapv:ManualMappingCuration +NANDO:1200952 Leukoencephalopathy, progressive, with ovarian failure skos:closeMatch MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure semapv:ManualMappingCuration +NANDO:1200953 Progressive myoclonus epilepsy skos:closeMatch MONDO:0020074 progressive myoclonus epilepsy semapv:ManualMappingCuration +NANDO:1200954 Unverricht-Lundborg disease skos:closeMatch MONDO:0009698 Unverricht-Lundborg syndrome semapv:ManualMappingCuration +NANDO:1200955 Lafora disease skos:closeMatch MONDO:0009697 Lafora disease semapv:ManualMappingCuration +NANDO:1200956 Benign adult familial myoclonus epilepsy skos:closeMatch MONDO:0019448 benign adult familial myoclonic epilepsy semapv:ManualMappingCuration +NANDO:1200957 Congenital anomalies syndrome skos:closeMatch MONDO:0000839 obsolete congenital abnormality semapv:ManualMappingCuration +NANDO:1200958 Partial trisomy 1q skos:closeMatch MONDO:0016952 partial duplication of the long arm of chromosome 1 semapv:ManualMappingCuration +NANDO:1200959 9q34 deletion syndrome skos:closeMatch MONDO:0012455 Kleefstra syndrome semapv:ManualMappingCuration +NANDO:1200960 Cornelia de lange syndrome skos:closeMatch MONDO:0016033 Cornelia de Lange syndrome semapv:ManualMappingCuration +NANDO:1200961 Smith-lemli-opitz syndrome skos:closeMatch MONDO:0010035 Smith-Lemli-Opitz syndrome semapv:ManualMappingCuration +NANDO:1200962 Congenital tricuspid stenosis skos:closeMatch MONDO:0011514 tricuspid atresia semapv:ManualMappingCuration +NANDO:1200962 Congenital tricuspid stenosis skos:closeMatch MONDO:0019813 congenital tricuspid stenosis semapv:ManualMappingCuration +NANDO:1200963 Congenital mitral stenosis skos:closeMatch MONDO:0005852 mitral valve stenosis semapv:ManualMappingCuration +NANDO:1200963 Congenital mitral stenosis skos:closeMatch MONDO:0020398 congenital mitral stenosis semapv:ManualMappingCuration +NANDO:1200964 Congenital pulmonary vein stenosis skos:closeMatch MONDO:0017864 congenital pulmonary veins atresia or stenosis semapv:ManualMappingCuration +NANDO:1200967 Nail-patella syndrome skos:closeMatch MONDO:0008061 nail-patella syndrome semapv:ManualMappingCuration +NANDO:1200969 Carnitine cycle disorders skos:closeMatch MONDO:0017716 disorder of carnitine cycle and carnitine transport semapv:ManualMappingCuration +NANDO:1200970 Carnitine palmitoyltransferase I deficiency skos:closeMatch MONDO:0009705 carnitine palmitoyl transferase 1A deficiency semapv:ManualMappingCuration +NANDO:1200971 Carnitine palmitoyltransferase II deficiency skos:closeMatch MONDO:0015515 carnitine palmitoyltransferase II deficiency semapv:ManualMappingCuration +NANDO:1200972 Carnitine-acylcarnitine translocase deficiency skos:closeMatch MONDO:0008918 carnitine-acylcarnitine translocase deficiency semapv:ManualMappingCuration +NANDO:1200973 Systemic primary carnitine deficiency skos:closeMatch MONDO:0008919 systemic primary carnitine deficiency disease semapv:ManualMappingCuration +NANDO:1200974 Trifunctional protein deficiency skos:closeMatch MONDO:0012172 mitochondrial trifunctional protein deficiency semapv:ManualMappingCuration +NANDO:1200978 Citrin deficiency skos:closeMatch MONDO:0016602 citrin deficiency semapv:ManualMappingCuration +NANDO:1200979 Neonatal intrahepatic cholestasis caused by citrin deficiency skos:closeMatch MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency semapv:ManualMappingCuration +NANDO:1200980 Adult-onset type II citrullinemia skos:closeMatch MONDO:0011326 citrullinemia, type II, adult-onset semapv:ManualMappingCuration +NANDO:1200980 Adult-onset type II citrullinemia skos:closeMatch MONDO:0016603 citrullinemia type II semapv:ManualMappingCuration +NANDO:1200982 Sepiapterin reductase deficiency skos:closeMatch MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency semapv:ManualMappingCuration +NANDO:1200983 Inherited glycosylphosphatidylinositol deficiency skos:closeMatch MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency semapv:ManualMappingCuration +NANDO:1200984 Nonketotic hyperglycinemia skos:closeMatch MONDO:0011612 glycine encephalopathy semapv:ManualMappingCuration +NANDO:1200985 Neonatal nonketotic hyperglycinemia skos:closeMatch MONDO:0017353 neonatal glycine encephalopathy semapv:ManualMappingCuration +NANDO:1200986 Infantile nonketotic hyperglycinemia skos:closeMatch MONDO:0017354 infantile glycine encephalopathy semapv:ManualMappingCuration +NANDO:1200987 Beta-ketothiolase deficiency skos:closeMatch MONDO:0008760 beta-ketothiolase deficiency semapv:ManualMappingCuration +NANDO:1200988 Aromatic L-amino acid decarboxylase deficiency skos:closeMatch MONDO:0012084 aromatic L-amino acid decarboxylase deficiency semapv:ManualMappingCuration +NANDO:1200989 Methylglutaconic aciduria skos:closeMatch MONDO:0017359 3-methylglutaconic aciduria semapv:ManualMappingCuration +NANDO:1200990 3-methylglutaconic aciduria type I skos:closeMatch MONDO:0009610 3-methylglutaconic aciduria type 1 semapv:ManualMappingCuration +NANDO:1200991 3-methylglutaconicaciduria type II skos:closeMatch MONDO:0010543 Barth syndrome semapv:ManualMappingCuration +NANDO:1200992 3-methylglutaconic aciduria type III skos:closeMatch MONDO:0009787 3-methylglutaconic aciduria type 3 semapv:ManualMappingCuration +NANDO:1200994 NLRC4 mutation skos:closeMatch MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome semapv:ManualMappingCuration +NANDO:1200996 Aicardi-Goutières Syndrome skos:closeMatch MONDO:0018866 Aicardi-Goutieres syndrome semapv:ManualMappingCuration +NANDO:1200997 A20 haploinsufficiency skos:closeMatch MONDO:0100222 A20 haploinsufficiency semapv:ManualMappingCuration +NANDO:1200998 Osteopetrosis skos:closeMatch MONDO:0017198 osteopetrosis semapv:ManualMappingCuration +NANDO:1201000 Anterior segment dysgenesis skos:closeMatch MONDO:0019503 anterior segment dysgenesis semapv:ManualMappingCuration +NANDO:1201001 Aniridia skos:closeMatch MONDO:0019172 aniridia semapv:ManualMappingCuration +NANDO:1201003 Congenital tracheal stenosis skos:closeMatch MONDO:0011340 congenital tracheal stenosis semapv:ManualMappingCuration +NANDO:1201004 Congenital subglottic stenosis skos:closeMatch MONDO:0015395 congenital subglottic stenosis semapv:ManualMappingCuration +NANDO:1201006 Gelatinous drop-like corneal dystrophy skos:closeMatch MONDO:0008777 gelatinous drop-like corneal dystrophy semapv:ManualMappingCuration +NANDO:1201007 Hutchinson-Gilford syndrome skos:closeMatch MONDO:0008310 Hutchinson-Gilford progeria syndrome semapv:ManualMappingCuration +NANDO:1201009 Systemic granulomatosis with polyangiitis skos:closeMatch MONDO:0012105 granulomatosis with polyangiitis semapv:ManualMappingCuration +NANDO:1201010 Diffuse cutaneous systemic sclerosis skos:closeMatch MONDO:0016356 diffuse cutaneous systemic sclerosis semapv:ManualMappingCuration +NANDO:1201011 Limited cutaneous systemic sclerosis skos:closeMatch MONDO:0016358 limited cutaneous systemic sclerosis semapv:ManualMappingCuration +NANDO:1201011 Limited cutaneous systemic sclerosis skos:closeMatch MONDO:0019563 CREST syndrome semapv:ManualMappingCuration +NANDO:1201018 Hepatic glycogen storage disease type I skos:closeMatch MONDO:0002413 glycogen storage disease I semapv:ManualMappingCuration +NANDO:1201019 Hepatic glycogen storage disease type III skos:closeMatch MONDO:0009291 glycogen storage disease III semapv:ManualMappingCuration +NANDO:1201020 Hepatic glycogen storage disease type IX skos:closeMatch MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency semapv:ManualMappingCuration +NANDO:1201021 Cystic fibrosis skos:closeMatch MONDO:0009061 cystic fibrosis semapv:ManualMappingCuration +NANDO:1201029 Mesangial proliferative glomerulonephritis skos:closeMatch MONDO:0003139 mesangial proliferative glomerulonephritis semapv:ManualMappingCuration +NANDO:2100002 Leukemia skos:closeMatch MONDO:0004355 childhood leukemia semapv:ManualMappingCuration +NANDO:2100002 Leukemia skos:closeMatch MONDO:0005059 leukemia semapv:ManualMappingCuration +NANDO:2100003 Myelodysplastic syndrome skos:closeMatch MONDO:0018881 myelodysplastic syndrome semapv:ManualMappingCuration +NANDO:2100003 Myelodysplastic syndrome skos:closeMatch MONDO:0044873 childhood myelodysplastic syndrome semapv:ManualMappingCuration +NANDO:2100004 Lymphoma skos:closeMatch MONDO:0003659 pediatric lymphoma semapv:ManualMappingCuration +NANDO:2100004 Lymphoma skos:closeMatch MONDO:0003660 adult lymphoma semapv:ManualMappingCuration +NANDO:2100004 Lymphoma skos:closeMatch MONDO:0005062 lymphoma semapv:ManualMappingCuration +NANDO:2100005 Histiocytosis skos:closeMatch MONDO:0002637 histiocytosis semapv:ManualMappingCuration +NANDO:2100007 Central nervous system tumors skos:closeMatch MONDO:0002714 central nervous system cancer semapv:ManualMappingCuration +NANDO:2100008 Chronic kidney disease skos:closeMatch MONDO:0005300 chronic kidney disease semapv:ManualMappingCuration +NANDO:2100009 Nephrotic syndrome skos:closeMatch MONDO:0005377 nephrotic syndrome semapv:ManualMappingCuration +NANDO:2100012 Chronic pyelonephritis skos:closeMatch MONDO:0001110 chronic pyelonephritis semapv:ManualMappingCuration +NANDO:2100014 Familial juvenile hyperuricemic nephropathy skos:closeMatch MONDO:0000608 familial juvenile hyperuricemic nephropathy semapv:ManualMappingCuration +NANDO:2100015 Nephronophthisis skos:closeMatch MONDO:0019005 nephronophthisis semapv:ManualMappingCuration +NANDO:2100016 Renovascular hypertension skos:closeMatch MONDO:0001105 renal hypertension semapv:ManualMappingCuration +NANDO:2100016 Renovascular hypertension skos:closeMatch MONDO:0006947 renovascular hypertension semapv:ManualMappingCuration +NANDO:2100019 Renal tubular acidosis skos:closeMatch MONDO:0001909 renal tubular acidosis semapv:ManualMappingCuration +NANDO:2100020 Gitelman syndrome skos:closeMatch MONDO:0009904 Gitelman syndrome semapv:ManualMappingCuration +NANDO:2100021 Bartter syndrome skos:closeMatch MONDO:0015231 Bartter syndrome semapv:ManualMappingCuration +NANDO:2100023 Chronic renal failure skos:closeMatch MONDO:0005300 chronic kidney disease semapv:ManualMappingCuration +NANDO:2100023 Chronic renal failure skos:closeMatch MONDO:0024327 chronic renal failure syndrome semapv:ManualMappingCuration +NANDO:2100027 Fanconi syndrome skos:closeMatch MONDO:0001083 Fanconi renotubular syndrome semapv:ManualMappingCuration +NANDO:2100028 Lowe syndrome skos:closeMatch MONDO:0010645 oculocerebrorenal syndrome semapv:ManualMappingCuration +NANDO:2100031 Bronchial asthma skos:closeMatch MONDO:0010940 inherited susceptibility to asthma semapv:ManualMappingCuration +NANDO:2100032 Congenital central hypoventilation syndrome skos:closeMatch MONDO:0008852 obsolete congenital central hypoventilation syndrome semapv:ManualMappingCuration +NANDO:2100034 Primary ciliary dyskinesia skos:closeMatch MONDO:0016575 primary ciliary dyskinesia semapv:ManualMappingCuration +NANDO:2100035 Cystic fibrosis skos:closeMatch MONDO:0009061 cystic fibrosis semapv:ManualMappingCuration +NANDO:2100036 Bronchiectasis skos:closeMatch MONDO:0004822 bronchiectasis semapv:ManualMappingCuration +NANDO:2100037 Idiopathic pulmonary hemosiderosis skos:closeMatch MONDO:0008346 pulmonary hemosiderosis semapv:ManualMappingCuration +NANDO:2100039 Bronchiolitis obliterans skos:closeMatch MONDO:0015265 bronchiolitis obliterans syndrome semapv:ManualMappingCuration +NANDO:2100040 Congenital diaphragmatic hernia skos:closeMatch MONDO:0005711 congenital diaphragmatic hernia semapv:ManualMappingCuration +NANDO:2100043 Sick sinus syndrome skos:closeMatch MONDO:0001823 sick sinus syndrome semapv:ManualMappingCuration +NANDO:2100044 Mobitz type II second degree atrioventricular block skos:closeMatch MONDO:0001261 Mobitz type II atrioventricular block semapv:ManualMappingCuration +NANDO:2100046 Bundle branch block skos:closeMatch MONDO:0020803 obsolete bundle branch block semapv:ManualMappingCuration +NANDO:2100049 Ventricular tachycardia skos:closeMatch MONDO:0005477 ventricular tachycardia semapv:ManualMappingCuration +NANDO:2100050 Atrial flutter skos:closeMatch MONDO:0005310 atrial flutter semapv:ManualMappingCuration +NANDO:2100051 Atrial fibrillation skos:closeMatch MONDO:0004981 atrial fibrillation semapv:ManualMappingCuration +NANDO:2100052 Ventricular fibrillation skos:closeMatch MONDO:0000190 ventricular fibrillation semapv:ManualMappingCuration +NANDO:2100053 Long QT syndrome skos:closeMatch MONDO:0002442 long QT syndrome semapv:ManualMappingCuration +NANDO:2100054 Hypertrophic cardiomyopathy skos:closeMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:ManualMappingCuration +NANDO:2100055 Arrhythmogenic right ventricular cardiomyopathy or dysplasia skos:closeMatch MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy semapv:ManualMappingCuration +NANDO:2100057 Dilated cardiomyopathy skos:closeMatch MONDO:0005021 dilated cardiomyopathy semapv:ManualMappingCuration +NANDO:2100058 Restrictive cardiomyopathy skos:closeMatch MONDO:0005201 restrictive cardiomyopathy semapv:ManualMappingCuration +NANDO:2100060 Endocardial fibroelastosis skos:closeMatch MONDO:0009169 endocardial fibroelastosis semapv:ManualMappingCuration +NANDO:2100061 Cardiac tumor skos:closeMatch MONDO:0021209 heart neoplasm semapv:ManualMappingCuration +NANDO:2100064 Constrictive pericarditis skos:closeMatch MONDO:0006711 constrictive pericarditis semapv:ManualMappingCuration +NANDO:2100070 Ischemic heart disease skos:closeMatch MONDO:0024644 myocardial ischemia semapv:ManualMappingCuration +NANDO:2100071 Hypoplastic left heart syndrome skos:closeMatch MONDO:0004933 hypoplastic left heart syndrome semapv:ManualMappingCuration +NANDO:2100073 Tricuspid atresia skos:closeMatch MONDO:0011514 tricuspid atresia semapv:ManualMappingCuration +NANDO:2100075 Tetralogy of Fallot skos:closeMatch MONDO:0008542 tetralogy of fallot semapv:ManualMappingCuration +NANDO:2100076 Double outlet right ventricle skos:closeMatch MONDO:0018089 double outlet right ventricle semapv:ManualMappingCuration +NANDO:2100077 Double-outlet left ventricle skos:closeMatch MONDO:0018090 double outlet left ventricle semapv:ManualMappingCuration +NANDO:2100079 Congenitally corrected transposition of the great arteries skos:closeMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:ManualMappingCuration +NANDO:2100080 Ebstein's anomaly skos:closeMatch MONDO:0009144 Ebstein anomaly semapv:ManualMappingCuration +NANDO:2100082 Aorto-pulmonary window skos:closeMatch MONDO:0021902 aortopulmonary window semapv:ManualMappingCuration +NANDO:2100083 Cor triatriatum skos:closeMatch MONDO:0015450 triatrial heart semapv:ManualMappingCuration +NANDO:2100084 Patent ductus arteriosus skos:closeMatch MONDO:0011827 patent ductus arteriosus semapv:ManualMappingCuration +NANDO:2100085 Atrial septal defect skos:closeMatch MONDO:0006664 atrial septal defect semapv:ManualMappingCuration +NANDO:2100086 Complete atrioventricular septal defect skos:closeMatch MONDO:0015273 complete atrioventricular canal semapv:ManualMappingCuration +NANDO:2100087 Ventricular septal defect skos:closeMatch MONDO:0002070 ventricular septal defect semapv:ManualMappingCuration +NANDO:2100090 Left ventricular-right atrial communication skos:closeMatch MONDO:0020428 congenital Gerbode defect semapv:ManualMappingCuration +NANDO:2100092 Subvalvular pulmonary stenosis skos:closeMatch MONDO:0006935 pulmonary subvalvular stenosis semapv:ManualMappingCuration +NANDO:2100093 Subvalvular aortic stenosis skos:closeMatch MONDO:0006987 subvalvular aortic stenosis semapv:ManualMappingCuration +NANDO:2100095 Absent pulmonary valve skos:closeMatch MONDO:0020064 pulmonary valve agenesis semapv:ManualMappingCuration +NANDO:2100098 Aortic stenosis skos:closeMatch MONDO:0004978 obsolete aortic stenosis semapv:ManualMappingCuration +NANDO:2100101 Aortic aneurysm skos:closeMatch MONDO:0005160 aortic aneurysm semapv:ManualMappingCuration +NANDO:2100103 Pulmonary arterial hypertension skos:closeMatch MONDO:0015924 pulmonary arterial hypertension semapv:ManualMappingCuration +NANDO:2100105 Valvular heart disease skos:closeMatch MONDO:0002869 heart valve disorder semapv:ManualMappingCuration +NANDO:2100109 Endocrine disease skos:closeMatch MONDO:0005151 endocrine system disorder semapv:ManualMappingCuration +NANDO:2100110 Hypopituitarism skos:closeMatch MONDO:0005152 hypopituitarism semapv:ManualMappingCuration +NANDO:2100111 Pituitary gigantism skos:closeMatch MONDO:0020479 pituitary gigantism semapv:ManualMappingCuration +NANDO:2100112 Acromegaly skos:closeMatch MONDO:0019933 acromegaly semapv:ManualMappingCuration +NANDO:2100114 Growth hormone insensitivity skos:closeMatch MONDO:0015892 growth hormone insensitivity syndrome semapv:ManualMappingCuration +NANDO:2100115 Hyperprolactinemia skos:closeMatch MONDO:0005804 hyperprolactinemia semapv:ManualMappingCuration +NANDO:2100116 Syndrome of inappropriate secretion of antidiuretic hormone skos:closeMatch MONDO:0006802 inappropriate ADH syndrome semapv:ManualMappingCuration +NANDO:2100117 Diabetes insipidus skos:closeMatch MONDO:0004782 diabetes insipidus semapv:ManualMappingCuration +NANDO:2100119 Hyperthyroidism skos:closeMatch MONDO:0004425 hyperthyroidism semapv:ManualMappingCuration +NANDO:2100120 Hypothyroidism skos:closeMatch MONDO:0005420 hypothyroidism semapv:ManualMappingCuration +NANDO:2100121 Resistance to thyroid hormone skos:closeMatch MONDO:0001328 thyroid hormone resistance syndrome semapv:ManualMappingCuration +NANDO:2100121 Resistance to thyroid hormone skos:closeMatch MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive semapv:ManualMappingCuration +NANDO:2100123 Hyperparathyroidism skos:closeMatch MONDO:0001741 hyperparathyroidism semapv:ManualMappingCuration +NANDO:2100124 Hypoparathyroidism skos:closeMatch MONDO:0001220 hypoparathyroidism semapv:ManualMappingCuration +NANDO:2100124 Hypoparathyroidism skos:closeMatch MONDO:0015895 obsolete syndrome with hypoparathyroidism semapv:ManualMappingCuration +NANDO:2100125 Autoimmune polyendocrinopathy skos:closeMatch MONDO:0017278 autoimmune polyendocrinopathy semapv:ManualMappingCuration +NANDO:2100126 Pseudohypoparathyroidism skos:closeMatch MONDO:0019992 pseudohypoparathyroidism semapv:ManualMappingCuration +NANDO:2100130 Apparent mineralocorticoid excess syndrome skos:closeMatch MONDO:0006657 obsolete apparent mineralocorticoid excess syndrome semapv:ManualMappingCuration +NANDO:2100130 Apparent mineralocorticoid excess syndrome skos:closeMatch MONDO:0009025 apparent mineralocorticoid excess semapv:ManualMappingCuration +NANDO:2100131 Liddle syndrome skos:closeMatch MONDO:0008323 Liddle syndrome semapv:ManualMappingCuration +NANDO:2100132 Hypoaldosteronism skos:closeMatch MONDO:0015900 hypoaldosteronism disease semapv:ManualMappingCuration +NANDO:2100133 Pseudohypoaldosteronism skos:closeMatch MONDO:0018638 pseudohypoaldosteronism semapv:ManualMappingCuration +NANDO:2100134 Congenital adrenal hyperplasia skos:closeMatch MONDO:0018479 congenital adrenal hyperplasia semapv:ManualMappingCuration +NANDO:2100135 Precocious puberty skos:closeMatch MONDO:0000088 precocious puberty semapv:ManualMappingCuration +NANDO:2100138 Hypogonadotropic hypogonadism skos:closeMatch MONDO:0018555 hypogonadotropic hypogonadism semapv:ManualMappingCuration +NANDO:2100139 Hypergonadotropic hypogonadism skos:closeMatch MONDO:0005387 primary ovarian failure semapv:ManualMappingCuration +NANDO:2100140 Disorders of sex development skos:closeMatch MONDO:0002145 disorder of sexual differentiation semapv:ManualMappingCuration +NANDO:2100142 Glucagonoma skos:closeMatch MONDO:0019959 glucagonoma semapv:ManualMappingCuration +NANDO:2100143 Hyperinsulinemic hypoglycemia skos:closeMatch MONDO:0005803 hyperinsulinemic hypoglycemia semapv:ManualMappingCuration +NANDO:2100143 Hyperinsulinemic hypoglycemia skos:closeMatch MONDO:0017182 familial hyperinsulinism semapv:ManualMappingCuration +NANDO:2100144 Vitamin D-dependent rickets skos:closeMatch MONDO:0024299 vitamin D-dependent rickets semapv:ManualMappingCuration +NANDO:2100147 Lipodystrophy skos:closeMatch MONDO:0006573 lipodystrophy semapv:ManualMappingCuration +NANDO:2100148 Multiple endocrine neoplasia skos:closeMatch MONDO:0017169 multiple endocrine neoplasia semapv:ManualMappingCuration +NANDO:2100149 Polycystic ovary syndrome skos:closeMatch MONDO:0008487 polycystic ovary syndrome semapv:ManualMappingCuration +NANDO:2100151 Collagen disease skos:closeMatch MONDO:0005554 rheumatic disorder semapv:ManualMappingCuration +NANDO:2100152 Collagen disease skos:closeMatch MONDO:0005554 rheumatic disorder semapv:ManualMappingCuration +NANDO:2100154 Relapsing Polychondritis skos:closeMatch MONDO:0019125 relapsing polychondritis semapv:ManualMappingCuration +NANDO:2100156 Autoinflammatory disease skos:closeMatch MONDO:0019751 autoinflammatory syndrome semapv:ManualMappingCuration +NANDO:2100157 Diabetes skos:closeMatch MONDO:0005015 diabetes mellitus semapv:ManualMappingCuration +NANDO:2100158 Diabetes skos:closeMatch MONDO:0005015 diabetes mellitus semapv:ManualMappingCuration +NANDO:2100159 Inborn errors of metabolism skos:closeMatch MONDO:0019052 inborn errors of metabolism semapv:ManualMappingCuration +NANDO:2100160 Disorder of amino acid metabolism skos:closeMatch MONDO:0037871 amino acid metabolism disease semapv:ManualMappingCuration +NANDO:2100161 Disorder of organic acid metabolism skos:closeMatch MONDO:0045022 disorder of organic acid metabolism semapv:ManualMappingCuration +NANDO:2100162 Disorder of fatty-acid metabolism skos:closeMatch MONDO:0037858 inherited fatty acid metabolism disorder semapv:ManualMappingCuration +NANDO:2100163 Mitochondrial diseases skos:closeMatch MONDO:0004069 inborn mitochondrial metabolism disorder semapv:ManualMappingCuration +NANDO:2100163 Mitochondrial diseases skos:closeMatch MONDO:0044970 mitochondrial disease semapv:ManualMappingCuration +NANDO:2100164 Disorder of carbohydrate metabolism skos:closeMatch MONDO:0019214 inborn carbohydrate metabolic disorder semapv:ManualMappingCuration +NANDO:2100164 Disorder of carbohydrate metabolism skos:closeMatch MONDO:0037792 carbohydrate metabolism disease semapv:ManualMappingCuration +NANDO:2100165 Lysosomal storage disease skos:closeMatch MONDO:0002561 lysosomal storage disease semapv:ManualMappingCuration +NANDO:2100166 Peroxisomal disorder skos:closeMatch MONDO:0019053 peroxisomal disease semapv:ManualMappingCuration +NANDO:2100172 Connective tissue disorder skos:closeMatch MONDO:0003900 connective tissue disorder semapv:ManualMappingCuration +NANDO:2100174 Alpha-1-antitrypsin deficiency skos:closeMatch MONDO:0013282 alpha 1-antitrypsin deficiency semapv:ManualMappingCuration +NANDO:2100175 Blood disease skos:closeMatch MONDO:0005570 hematologic disorder semapv:ManualMappingCuration +NANDO:2100176 Megaloblastic anemia skos:closeMatch MONDO:0001700 megaloblastic anemia semapv:ManualMappingCuration +NANDO:2100177 Pure red cell aplasia skos:closeMatch MONDO:0001705 pure red-cell aplasia semapv:ManualMappingCuration +NANDO:2100178 Congenital dyserythropoietic anemia skos:closeMatch MONDO:0019403 congenital dyserythropoietic anemia semapv:ManualMappingCuration +NANDO:2100179 Sideroblastic anemia skos:closeMatch MONDO:0015194 sideroblastic anemia semapv:ManualMappingCuration +NANDO:2100180 Congenital atransferrinemia skos:closeMatch MONDO:0008846 atransferrinemia semapv:ManualMappingCuration +NANDO:2100181 Autoimmune hemolytic anemia skos:closeMatch MONDO:0020108 autoimmune hemolytic anemia semapv:ManualMappingCuration +NANDO:2100182 Paroxysmal nocturnal haemoglobinuria skos:closeMatch MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria semapv:ManualMappingCuration +NANDO:2100183 Hereditary hemolytic anemia skos:closeMatch MONDO:0003689 familial hemolytic anemia semapv:ManualMappingCuration +NANDO:2100186 Polycythemia vera skos:closeMatch MONDO:0009891 acquired polycythemia vera semapv:ManualMappingCuration +NANDO:2100187 Familial polycythemia skos:closeMatch MONDO:0001115 familial polycythemia semapv:ManualMappingCuration +NANDO:2100188 Thrombocytopenic purpura skos:closeMatch MONDO:0043768 thrombocytopenic purpura semapv:ManualMappingCuration +NANDO:2100189 Thrombotic thrombocytopenic purpura skos:closeMatch MONDO:0018896 thrombotic thrombocytopenic purpura semapv:ManualMappingCuration +NANDO:2100192 Cyclic thrombocytopenia skos:closeMatch MONDO:0008556 thrombocytopenia, cyclic semapv:ManualMappingCuration +NANDO:2100193 May-Hegglin anomaly skos:closeMatch MONDO:0007954 obsolete May-Hegglin anomaly semapv:ManualMappingCuration +NANDO:2100194 Essential thrombocythemia skos:closeMatch MONDO:0005029 essential thrombocythemia semapv:ManualMappingCuration +NANDO:2100197 Protein C deficiency skos:closeMatch MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency semapv:ManualMappingCuration +NANDO:2100198 Protein S deficiency skos:closeMatch MONDO:0002304 protein S deficiency semapv:ManualMappingCuration +NANDO:2100200 Myelofibrosis skos:closeMatch MONDO:0044903 myelofibrosis semapv:ManualMappingCuration +NANDO:2100201 Aplastic anemia skos:closeMatch MONDO:0015909 aplastic anemia semapv:ManualMappingCuration +NANDO:2100202 Immune system disease skos:closeMatch MONDO:0005046 immune system disorder semapv:ManualMappingCuration +NANDO:2100203 Combined immunodeficiency skos:closeMatch MONDO:0015131 combined immunodeficiency semapv:ManualMappingCuration +NANDO:2100203 Combined immunodeficiency skos:closeMatch MONDO:0018035 obsolete syndrome with combined immunodeficiency semapv:ManualMappingCuration +NANDO:2100204 Immunodeficiency skos:closeMatch MONDO:0003778 inborn error of immunity semapv:ManualMappingCuration +NANDO:2100204 Immunodeficiency skos:closeMatch MONDO:0021094 immunodeficiency disease semapv:ManualMappingCuration +NANDO:2100212 Acquired immune deficiency syndrome skos:closeMatch MONDO:0012268 AIDS semapv:ManualMappingCuration +NANDO:2100213 Chronic graft-versus-host disease skos:closeMatch MONDO:0020547 chronic graft versus host disease semapv:ManualMappingCuration +NANDO:2100214 Neuromuscular disease skos:closeMatch MONDO:0019056 neuromuscular disease semapv:ManualMappingCuration +NANDO:2100215 Myelomeningocele skos:closeMatch MONDO:0017069 spina bifida cystica semapv:ManualMappingCuration +NANDO:2100215 Myelomeningocele skos:closeMatch MONDO:0019773 myelomeningocele semapv:ManualMappingCuration +NANDO:2100216 Sacrococcygeal teratoma skos:closeMatch MONDO:0042727 sacrococcygeal teratoma semapv:ManualMappingCuration +NANDO:2100217 Brain malformation skos:closeMatch MONDO:0016054 cerebral malformation semapv:ManualMappingCuration +NANDO:2100218 Joubert syndrome related disorders skos:closeMatch MONDO:0015369 Joubert syndrome and related disorders semapv:ManualMappingCuration +NANDO:2100219 Rett syndrome skos:closeMatch MONDO:0010726 Rett syndrome semapv:ManualMappingCuration +NANDO:2100220 Neurocutaneous syndrome skos:closeMatch MONDO:0042983 neurocutaneous syndrome semapv:ManualMappingCuration +NANDO:2100221 Progeroid syndromes skos:closeMatch MONDO:0015333 progeroid syndrome semapv:ManualMappingCuration +NANDO:2100223 ATR-X syndrome skos:closeMatch MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome semapv:ManualMappingCuration +NANDO:2100224 Fragile X syndrome skos:closeMatch MONDO:0010383 fragile X syndrome semapv:ManualMappingCuration +NANDO:2100226 Cerebral creatine deficiency syndromes skos:closeMatch MONDO:0000456 cerebral creatine deficiency syndrome semapv:ManualMappingCuration +NANDO:2100227 Craniosynostosis skos:closeMatch MONDO:0015469 craniosynostosis semapv:ManualMappingCuration +NANDO:2100228 Moyamoya disease skos:closeMatch MONDO:0016820 Moyamoya disease semapv:ManualMappingCuration +NANDO:2100229 Cerebral arteriovenous malformation skos:closeMatch MONDO:0007154 arteriovenous malformations of the brain semapv:ManualMappingCuration +NANDO:2100231 Spinal muscular atrophy skos:closeMatch MONDO:0001516 spinal muscular atrophy semapv:ManualMappingCuration +NANDO:2100231 Spinal muscular atrophy skos:closeMatch MONDO:0019079 proximal spinal muscular atrophy semapv:ManualMappingCuration +NANDO:2100233 Muscular dystrophy skos:closeMatch MONDO:0020121 muscular dystrophy semapv:ManualMappingCuration +NANDO:2100234 Congenital myopathy skos:closeMatch MONDO:0019952 congenital myopathy semapv:ManualMappingCuration +NANDO:2100235 Schwartz-Jampel syndrome skos:closeMatch MONDO:0009717 Schwartz-Jampel syndrome semapv:ManualMappingCuration +NANDO:2100237 Progressive myoclonus epilepsy skos:closeMatch MONDO:0020074 progressive myoclonus epilepsy semapv:ManualMappingCuration +NANDO:2100238 Spinocerebellar degeneration skos:closeMatch MONDO:0000437 cerebellar ataxia semapv:ManualMappingCuration +NANDO:2100239 Alternating hemiplegia of childhood skos:closeMatch MONDO:0016241 alternating hemiplegia of childhood semapv:ManualMappingCuration +NANDO:2100240 Dystonia musculorum deformans skos:closeMatch MONDO:0007492 early-onset generalized limb-onset dystonia semapv:ManualMappingCuration +NANDO:2100241 Neurodegeneration with brain iron accumulation skos:closeMatch MONDO:0018307 neurodegeneration with brain iron accumulation semapv:ManualMappingCuration +NANDO:2100242 Infantile bilateral striatal necrosis skos:closeMatch MONDO:0015518 infantile bilateral striatal necrosis semapv:ManualMappingCuration +NANDO:2100244 Aicardi-Goutières Syndrome skos:closeMatch MONDO:0018866 Aicardi-Goutieres syndrome semapv:ManualMappingCuration +NANDO:2100245 Subacute sclerosing panencephalitis skos:closeMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:ManualMappingCuration +NANDO:2100246 Rasmussen's encephalitis skos:closeMatch MONDO:0016019 Rasmussen subacute encephalitis semapv:ManualMappingCuration +NANDO:2100247 Acute encephalopathy with biphasic seizures and late reduced diffusion skos:closeMatch MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion semapv:ManualMappingCuration +NANDO:2100248 Autoimmune encephalitis skos:closeMatch MONDO:0020640 autoimmune encephalitis semapv:ManualMappingCuration +NANDO:2100249 Acute encephalitis with refractory, repetitive partial seizures skos:closeMatch MONDO:0015584 febrile infection-related epilepsy syndrome semapv:ManualMappingCuration +NANDO:2100250 Multiple sclerosis skos:closeMatch MONDO:0005301 multiple sclerosis semapv:ManualMappingCuration +NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy skos:closeMatch MONDO:0002335 chronic inflammatory demyelinating polyneuritis semapv:ManualMappingCuration +NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy skos:closeMatch MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy semapv:ManualMappingCuration +NANDO:2100251 Chronic inflammatory demyelinating polyneuropathy skos:closeMatch MONDO:0007691 Guillain-Barre syndrome, familial semapv:ManualMappingCuration +NANDO:2100252 Myasthenia gravis skos:closeMatch MONDO:0009688 myasthenia gravis semapv:ManualMappingCuration +NANDO:2100255 Microvillus inclusion disease skos:closeMatch MONDO:0009635 microvillus inclusion disease semapv:ManualMappingCuration +NANDO:2100256 Intestinal lymphangiectasia skos:closeMatch MONDO:0018178 intestinal lymphangiectasia semapv:ManualMappingCuration +NANDO:2100257 Polyposis skos:closeMatch MONDO:0000147 polyposis semapv:ManualMappingCuration +NANDO:2100258 Cyclic vomiting syndrome skos:closeMatch MONDO:0010778 cyclic vomiting syndrome semapv:ManualMappingCuration +NANDO:2100259 Inflammatory bowel disease skos:closeMatch MONDO:0005265 inflammatory bowel disease semapv:ManualMappingCuration +NANDO:2100261 Chronic nonspecific multiple ulcers of the small intestine skos:closeMatch MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene semapv:ManualMappingCuration +NANDO:2100264 Autoimmune hepatitis skos:closeMatch MONDO:0016264 autoimmune hepatitis semapv:ManualMappingCuration +NANDO:2100265 Primary sclerosing cholangitis skos:closeMatch MONDO:0013433 primary sclerosing cholangitis semapv:ManualMappingCuration +NANDO:2100265 Primary sclerosing cholangitis skos:closeMatch MONDO:0018646 sclerosing cholangitis semapv:ManualMappingCuration +NANDO:2100267 Congenital hepatic fibrosis skos:closeMatch MONDO:0018840 isolated congenital hepatic fibrosis semapv:ManualMappingCuration +NANDO:2100268 Liver cirrhosis skos:closeMatch MONDO:0005155 cirrhosis of liver semapv:ManualMappingCuration +NANDO:2100272 Crigler-Najjar syndrome skos:closeMatch MONDO:0009044 Crigler-Najjar syndrome semapv:ManualMappingCuration +NANDO:2100274 Short bowel syndrome skos:closeMatch MONDO:0015183 short bowel syndrome semapv:ManualMappingCuration +NANDO:2100279 Chromosome abnormality skos:closeMatch MONDO:0019040 chromosomal disorder semapv:ManualMappingCuration +NANDO:2100280 Chromosome abnormality skos:closeMatch MONDO:0019040 chromosomal disorder semapv:ManualMappingCuration +NANDO:2100281 Skin disease skos:closeMatch MONDO:0005093 skin disorder semapv:ManualMappingCuration +NANDO:2100283 Congenital ichthyosis skos:closeMatch MONDO:0015947 inherited ichthyosis semapv:ManualMappingCuration +NANDO:2100284 Epidermolysis bullosa skos:closeMatch MONDO:0006541 epidermolysis bullosa semapv:ManualMappingCuration +NANDO:2100285 Pustular psoriasis skos:closeMatch MONDO:0022205 pustular psoriasis semapv:ManualMappingCuration +NANDO:2100286 Xeroderma pigmentosum skos:closeMatch MONDO:0019600 xeroderma pigmentosum semapv:ManualMappingCuration +NANDO:2100287 von Recklinghausen's disease skos:closeMatch MONDO:0018975 neurofibromatosis type 1 semapv:ManualMappingCuration +NANDO:2100288 Pachydermoperiostosis skos:closeMatch MONDO:0009799 obsolete pachydermoperiostosis semapv:ManualMappingCuration +NANDO:2100288 Pachydermoperiostosis skos:closeMatch MONDO:0016620 primary hypertrophic osteoarthropathy semapv:ManualMappingCuration +NANDO:2100290 Stevens-Johnson syndrome skos:closeMatch MONDO:0018229 Stevens-Johnson syndrome semapv:ManualMappingCuration +NANDO:2100291 Bone disease skos:closeMatch MONDO:0005381 bone disorder semapv:ManualMappingCuration +NANDO:2100293 Bone disease skos:closeMatch MONDO:0005381 bone disorder semapv:ManualMappingCuration +NANDO:2100294 Vascular disease skos:closeMatch MONDO:0005385 vascular disorder semapv:ManualMappingCuration +NANDO:2100295 Vascular malformation skos:closeMatch MONDO:0024291 vascular malformation semapv:ManualMappingCuration +NANDO:2100296 Hereditary hemorrhagic telangiectasia skos:closeMatch MONDO:0019180 hereditary hemorrhagic telangiectasia semapv:ManualMappingCuration +NANDO:2100297 Kasabach-Merritt syndrome skos:closeMatch MONDO:0007708 Kasabach-Merritt syndrome semapv:ManualMappingCuration +NANDO:2200001 B-cell precursor lymphoblastic leukemia skos:closeMatch MONDO:0020511 precursor B-cell acute lymphoblastic leukemia semapv:ManualMappingCuration +NANDO:2200002 Mature B-cell lymphoblastic leukemia skos:closeMatch MONDO:0000872 B-cell childhood acute lymphoblastic leukemia semapv:ManualMappingCuration +NANDO:2200003 T-cell lymphoblastic leukemia skos:closeMatch MONDO:0004963 T-cell acute lymphoblastic leukemia semapv:ManualMappingCuration +NANDO:2200004 Acute myeloid leukemia with minimal differentiation skos:closeMatch MONDO:0005223 acute myeloid leukemia with minimal differentiation semapv:ManualMappingCuration +NANDO:2200005 Acute myeloid leukemia without maturation skos:closeMatch MONDO:0005224 acute myeloblastic leukemia without maturation semapv:ManualMappingCuration +NANDO:2200006 Acute myeloid leukemia with maturation skos:closeMatch MONDO:0020320 acute myeloblastic leukemia with maturation semapv:ManualMappingCuration +NANDO:2200007 Acute promyelocytic leukemia skos:closeMatch MONDO:0012883 acute promyelocytic leukemia semapv:ManualMappingCuration +NANDO:2200008 Acute monocytic leukemia skos:closeMatch MONDO:0000875 adult acute monocytic leukemia semapv:ManualMappingCuration +NANDO:2200008 Acute monocytic leukemia skos:closeMatch MONDO:0007896 acute monocytic leukemia semapv:ManualMappingCuration +NANDO:2200009 Acute monocytic leukemia skos:closeMatch MONDO:0000875 adult acute monocytic leukemia semapv:ManualMappingCuration +NANDO:2200009 Acute monocytic leukemia skos:closeMatch MONDO:0007896 acute monocytic leukemia semapv:ManualMappingCuration +NANDO:2200010 Acute erythremia skos:closeMatch MONDO:0017858 acute erythroid leukemia semapv:ManualMappingCuration +NANDO:2200011 Acute megakaryoblastic leukemia skos:closeMatch MONDO:0018872 acute megakaryoblastic leukemia semapv:ManualMappingCuration +NANDO:2200012 NK cell leukemia skos:closeMatch MONDO:0019470 aggressive NK-cell leukemia semapv:ManualMappingCuration +NANDO:2200013 Chronic myeloid leukemia skos:closeMatch MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive semapv:ManualMappingCuration +NANDO:2200014 Chronic myelomonocytic leukemia skos:closeMatch MONDO:0011908 juvenile myelomonocytic leukemia semapv:ManualMappingCuration +NANDO:2200014 Chronic myelomonocytic leukemia skos:closeMatch MONDO:0020311 chronic myelomonocytic leukemia semapv:ManualMappingCuration +NANDO:2200015 Juvenile myelomonocytic leukemia skos:closeMatch MONDO:0011908 juvenile myelomonocytic leukemia semapv:ManualMappingCuration +NANDO:2200017 Acute undifferentiated leukemia skos:closeMatch MONDO:0019460 acute leukemia of ambiguous lineage semapv:ManualMappingCuration +NANDO:2200017 Acute undifferentiated leukemia skos:closeMatch MONDO:0020321 acute undifferentiated leukemia semapv:ManualMappingCuration +NANDO:2200018 Mixed phenotype acute leukemia skos:closeMatch MONDO:0019460 acute leukemia of ambiguous lineage semapv:ManualMappingCuration +NANDO:2200018 Mixed phenotype acute leukemia skos:closeMatch MONDO:0020743 mixed phenotype acute leukemia semapv:ManualMappingCuration +NANDO:2200019 Myelodysplastic syndrome skos:closeMatch MONDO:0018881 myelodysplastic syndrome semapv:ManualMappingCuration +NANDO:2200019 Myelodysplastic syndrome skos:closeMatch MONDO:0044873 childhood myelodysplastic syndrome semapv:ManualMappingCuration +NANDO:2200020 Mature B-cell lymphoma skos:closeMatch MONDO:0015759 B-cell non-Hodgkin lymphoma semapv:ManualMappingCuration +NANDO:2200021 Anaplastic large cell lymphoma skos:closeMatch MONDO:0020325 anaplastic large cell lymphoma semapv:ManualMappingCuration +NANDO:2200022 Precursor B lymphoblastic lymphoma skos:closeMatch MONDO:0020511 precursor B-cell acute lymphoblastic leukemia semapv:ManualMappingCuration +NANDO:2200023 Precursor T lymphoblastic lymphoma skos:closeMatch MONDO:0044917 T-lymphoblastic lymphoma semapv:ManualMappingCuration +NANDO:2200024 Hodgkin lymphoma skos:closeMatch MONDO:0004952 Hodgkins lymphoma semapv:ManualMappingCuration +NANDO:2200027 Extranodal NK/T-cell lymphoma, nasal type skos:closeMatch MONDO:0019472 extranodal nasal NK/T cell lymphoma semapv:ManualMappingCuration +NANDO:2200028 Peripheral T-cell lymphoma, not otherwise specified skos:closeMatch MONDO:0004964 peripheral T-cell lymphoma, not otherwise specified semapv:ManualMappingCuration +NANDO:2200029 Angioimmunoblastic T-cell lymphoma skos:closeMatch MONDO:0004977 angioimmunoblastic T-cell lymphoma semapv:ManualMappingCuration +NANDO:2200030 Sucutaneous panniculitis-like T-cell lymphoma skos:closeMatch MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma semapv:ManualMappingCuration +NANDO:2200031 Langerhans cell histiocytosis skos:closeMatch MONDO:0017025 Langerhans cell histiocytosis specific to childhood semapv:ManualMappingCuration +NANDO:2200031 Langerhans cell histiocytosis skos:closeMatch MONDO:0017029 Langerhans cell histiocytosis specific to adulthood semapv:ManualMappingCuration +NANDO:2200031 Langerhans cell histiocytosis skos:closeMatch MONDO:0018310 Langerhans cell histiocytosis semapv:ManualMappingCuration +NANDO:2200032 Hemophagocytic lymphohistiocytosis skos:closeMatch MONDO:0015540 hemophagocytic syndrome semapv:ManualMappingCuration +NANDO:2200034 Follicular dendritic cell sarcoma skos:closeMatch MONDO:0005764 follicular dendritic cell sarcoma semapv:ManualMappingCuration +NANDO:2200035 Interdigitating dendritic cell sarcoma skos:closeMatch MONDO:0005813 interdigitating dendritic cell sarcoma semapv:ManualMappingCuration +NANDO:2200036 Langerhans cell sarcoma skos:closeMatch MONDO:0019480 Langerhans cell sarcoma semapv:ManualMappingCuration +NANDO:2200037 Juvenile xanthogranuloma skos:closeMatch MONDO:0015534 juvenile xanthogranuloma semapv:ManualMappingCuration +NANDO:2200038 Erdheim-Chester disease skos:closeMatch MONDO:0018153 Erdheim-Chester disease semapv:ManualMappingCuration +NANDO:2200039 Rosai-Dorfman disease skos:closeMatch MONDO:0006412 sinus histiocytosis with massive lymphadenopathy semapv:ManualMappingCuration +NANDO:2200039 Rosai-Dorfman disease skos:closeMatch MONDO:0044354 obsolete Rosai-Dorfman disease semapv:ManualMappingCuration +NANDO:2200040 Neuroblastoma skos:closeMatch MONDO:0005072 neuroblastoma semapv:ManualMappingCuration +NANDO:2200041 Ganglioneuroblastoma skos:closeMatch MONDO:0005035 ganglioneuroblastoma semapv:ManualMappingCuration +NANDO:2200042 Retinoblastoma skos:closeMatch MONDO:0008380 retinoblastoma semapv:ManualMappingCuration +NANDO:2200043 Wilms tumour skos:closeMatch MONDO:0019004 kidney Wilms tumor semapv:ManualMappingCuration +NANDO:2200044 Clear cell sarcoma of the kidney skos:closeMatch MONDO:0005006 clear cell sarcoma of kidney semapv:ManualMappingCuration +NANDO:2200045 Renal cell carcinoma skos:closeMatch MONDO:0005086 renal cell carcinoma semapv:ManualMappingCuration +NANDO:2200045 Renal cell carcinoma skos:closeMatch MONDO:0005549 renal cell adenocarcinoma semapv:ManualMappingCuration +NANDO:2200046 Hepatoblastoma skos:closeMatch MONDO:0018666 hepatoblastoma semapv:ManualMappingCuration +NANDO:2200047 Hepatocellular carcinoma skos:closeMatch MONDO:0007256 hepatocellular carcinoma semapv:ManualMappingCuration +NANDO:2200048 Osteosarcoma skos:closeMatch MONDO:0002623 pediatric osteosarcoma semapv:ManualMappingCuration +NANDO:2200048 Osteosarcoma skos:closeMatch MONDO:0009807 osteosarcoma semapv:ManualMappingCuration +NANDO:2200049 Osteochondromatosis skos:closeMatch MONDO:0005508 hereditary multiple osteochondromas semapv:ManualMappingCuration +NANDO:2200049 Osteochondromatosis skos:closeMatch MONDO:0008145 Ollier disease semapv:ManualMappingCuration +NANDO:2200050 Chondrosarcoma skos:closeMatch MONDO:0008977 chondrosarcoma semapv:ManualMappingCuration +NANDO:2200051 Chondroblastoma skos:closeMatch MONDO:0004997 chondroblastoma semapv:ManualMappingCuration +NANDO:2200052 Malignancy in giant cell tumour of bone skos:closeMatch MONDO:0006287 malignancy in giant cell tumor of bone semapv:ManualMappingCuration +NANDO:2200053 Ewing's sarcoma skos:closeMatch MONDO:0012817 Ewing sarcoma semapv:ManualMappingCuration +NANDO:2200055 Peripheral primitive neuroectodermal tumors skos:closeMatch MONDO:0018271 peripheral primitive neuroectodermal tumor semapv:ManualMappingCuration +NANDO:2200056 Rhabdomyosarcoma skos:closeMatch MONDO:0005212 rhabdomyosarcoma semapv:ManualMappingCuration +NANDO:2200057 Malignant rhabdoid tumour skos:closeMatch MONDO:0002728 rhabdoid tumor semapv:ManualMappingCuration +NANDO:2200058 Undifferentiated sarcoma skos:closeMatch MONDO:0005102 undifferentiated (embryonal) sarcoma semapv:ManualMappingCuration +NANDO:2200059 Desmoplastic small round cell tumors skos:closeMatch MONDO:0019373 desmoplastic small round cell tumor semapv:ManualMappingCuration +NANDO:2200060 Fibrosarcoma skos:closeMatch MONDO:0002676 adult fibrosarcoma semapv:ManualMappingCuration +NANDO:2200060 Fibrosarcoma skos:closeMatch MONDO:0002678 pediatric fibrosarcoma semapv:ManualMappingCuration +NANDO:2200060 Fibrosarcoma skos:closeMatch MONDO:0005164 fibrosarcoma semapv:ManualMappingCuration +NANDO:2200061 Synovial sarcoma skos:closeMatch MONDO:0010434 synovial sarcoma semapv:ManualMappingCuration +NANDO:2200062 Clear cell sarcoma skos:closeMatch MONDO:0002926 clear cell sarcoma semapv:ManualMappingCuration +NANDO:2200063 Alveolar soft part sarcoma skos:closeMatch MONDO:0011655 alveolar soft part sarcoma semapv:ManualMappingCuration +NANDO:2200064 Leiomyosarcoma skos:closeMatch MONDO:0005058 leiomyosarcoma semapv:ManualMappingCuration +NANDO:2200065 Liposarcoma skos:closeMatch MONDO:0003585 adult liposarcoma semapv:ManualMappingCuration +NANDO:2200065 Liposarcoma skos:closeMatch MONDO:0003587 pediatric liposarcoma semapv:ManualMappingCuration +NANDO:2200065 Liposarcoma skos:closeMatch MONDO:0005060 liposarcoma semapv:ManualMappingCuration +NANDO:2200066 Dysgerminoma skos:closeMatch MONDO:0003002 dysgerminoma semapv:ManualMappingCuration +NANDO:2200067 Embryonal carcinoma skos:closeMatch MONDO:0005440 embryonal carcinoma semapv:ManualMappingCuration +NANDO:2200068 Polyembryoma skos:closeMatch MONDO:0015863 polyembryoma semapv:ManualMappingCuration +NANDO:2200069 Yolk sac tumour skos:closeMatch MONDO:0005744 yolk sac tumor semapv:ManualMappingCuration +NANDO:2200070 Choriocarcinoma skos:closeMatch MONDO:0005207 choriocarcinoma semapv:ManualMappingCuration +NANDO:2200071 Mixed germ cell tumour skos:closeMatch MONDO:0015864 mixed germ cell tumor semapv:ManualMappingCuration +NANDO:2200072 Sex-cord stromal tumour skos:closeMatch MONDO:0006055 sex cord-stromal tumor semapv:ManualMappingCuration +NANDO:2200073 Adrenocortical carcinoma skos:closeMatch MONDO:0006639 adrenal cortex carcinoma semapv:ManualMappingCuration +NANDO:2200074 Thyroid cancer skos:closeMatch MONDO:0002108 thyroid cancer semapv:ManualMappingCuration +NANDO:2200074 Thyroid cancer skos:closeMatch MONDO:0015075 thyroid gland carcinoma semapv:ManualMappingCuration +NANDO:2200076 Salivary grand carcinoma skos:closeMatch MONDO:0000521 salivary gland carcinoma semapv:ManualMappingCuration +NANDO:2200077 Malignant melanoma skos:closeMatch MONDO:0005105 melanoma semapv:ManualMappingCuration +NANDO:2200078 Pheochromocytoma skos:closeMatch MONDO:0004974 adrenal gland pheochromocytoma semapv:ManualMappingCuration +NANDO:2200079 Malignant thymoma skos:closeMatch MONDO:0006451 thymic carcinoma semapv:ManualMappingCuration +NANDO:2200080 Pleuropulmonaryblastoma skos:closeMatch MONDO:0011014 pleuropulmonary blastoma semapv:ManualMappingCuration +NANDO:2200081 Bronchial tumour skos:closeMatch MONDO:0002807 bronchial neoplasm semapv:ManualMappingCuration +NANDO:2200082 Pancreatoblastoma skos:closeMatch MONDO:0019035 pancreatoblastoma semapv:ManualMappingCuration +NANDO:2200084 Pilocytic astrocytoma skos:closeMatch MONDO:0004000 childhood pilocytic astrocytoma semapv:ManualMappingCuration +NANDO:2200084 Pilocytic astrocytoma skos:closeMatch MONDO:0016691 pilocytic astrocytoma semapv:ManualMappingCuration +NANDO:2200085 Diffuse astrocytoma skos:closeMatch MONDO:0016686 diffuse astrocytoma semapv:ManualMappingCuration +NANDO:2200086 Anaplastic astrocytoma skos:closeMatch MONDO:0016684 anaplastic astrocytoma semapv:ManualMappingCuration +NANDO:2200087 Glioblastoma skos:closeMatch MONDO:0018177 glioblastoma semapv:ManualMappingCuration +NANDO:2200087 Glioblastoma skos:closeMatch MONDO:0020690 adult glioblastoma semapv:ManualMappingCuration +NANDO:2200088 Ependymoma skos:closeMatch MONDO:0016698 ependymoma semapv:ManualMappingCuration +NANDO:2200089 Oligodendroglioma skos:closeMatch MONDO:0002540 childhood oligodendroglioma semapv:ManualMappingCuration +NANDO:2200089 Oligodendroglioma skos:closeMatch MONDO:0002543 adult oligodendroglioma semapv:ManualMappingCuration +NANDO:2200089 Oligodendroglioma skos:closeMatch MONDO:0016695 oligodendroglioma semapv:ManualMappingCuration +NANDO:2200090 Medulloblastoma skos:closeMatch MONDO:0002794 adult medulloblastoma semapv:ManualMappingCuration +NANDO:2200090 Medulloblastoma skos:closeMatch MONDO:0002797 childhood medulloblastoma semapv:ManualMappingCuration +NANDO:2200090 Medulloblastoma skos:closeMatch MONDO:0007959 medulloblastoma semapv:ManualMappingCuration +NANDO:2200091 Craniopharyngioma skos:closeMatch MONDO:0018907 craniopharyngioma semapv:ManualMappingCuration +NANDO:2200092 Pineocytoma skos:closeMatch MONDO:0016723 pineocytoma semapv:ManualMappingCuration +NANDO:2200093 Choroid plexus papilloma skos:closeMatch MONDO:0009837 choroid plexus papilloma semapv:ManualMappingCuration +NANDO:2200094 Meningioma skos:closeMatch MONDO:0003057 pediatric meningioma semapv:ManualMappingCuration +NANDO:2200094 Meningioma skos:closeMatch MONDO:0016642 meningioma semapv:ManualMappingCuration +NANDO:2200095 Pituitary adenoma skos:closeMatch MONDO:0006373 pituitary gland adenoma semapv:ManualMappingCuration +NANDO:2200096 Ganglioglioma skos:closeMatch MONDO:0016733 ganglioglioma semapv:ManualMappingCuration +NANDO:2200097 Gangliocytoma skos:closeMatch MONDO:0016730 gangliocytoma semapv:ManualMappingCuration +NANDO:2200098 Chordoma skos:closeMatch MONDO:0008978 chordoma semapv:ManualMappingCuration +NANDO:2200099 Primitive neuroectodermal tumour of the central nervous system skos:closeMatch MONDO:0000640 central nervous system primitive neuroectodermal neoplasm semapv:ManualMappingCuration +NANDO:2200100 Primitive neuroectodermal tumour of the central nervous system skos:closeMatch MONDO:0000640 central nervous system primitive neuroectodermal neoplasm semapv:ManualMappingCuration +NANDO:2200101 Atypical teratoid, rhabdoid tumour skos:closeMatch MONDO:0020560 atypical teratoid rhabdoid tumor semapv:ManualMappingCuration +NANDO:2200102 Malignant neurinoma skos:closeMatch MONDO:0017827 malignant peripheral nerve sheath tumor semapv:ManualMappingCuration +NANDO:2200103 Neurinoma skos:closeMatch MONDO:0002546 schwannoma semapv:ManualMappingCuration +NANDO:2200104 Teratoma of the central nervous system skos:closeMatch MONDO:0002718 central nervous system teratoma semapv:ManualMappingCuration +NANDO:2200105 Mature teratoma skos:closeMatch MONDO:0003517 mature teratoma semapv:ManualMappingCuration +NANDO:2200106 Immature teratoma skos:closeMatch MONDO:0024746 immature teratoma semapv:ManualMappingCuration +NANDO:2200107 Teratoma with malignant transformation skos:closeMatch MONDO:0006444 teratoma with malignant transformation semapv:ManualMappingCuration +NANDO:2200108 Intracranial germ cell tumour skos:closeMatch MONDO:0004218 childhood germ cell brain tumor semapv:ManualMappingCuration +NANDO:2200110 Congenital nephrotic syndrome of the Finnish type skos:closeMatch MONDO:0009732 congenital nephrotic syndrome, Finnish type semapv:ManualMappingCuration +NANDO:2200112 Minimal change nephrotic syndrome skos:closeMatch MONDO:0006835 lipoid nephrosis semapv:ManualMappingCuration +NANDO:2200113 Focal segmental glomerulosclerosis skos:closeMatch MONDO:0005363 inherited focal segmental glomerulosclerosis semapv:ManualMappingCuration +NANDO:2200114 Membranous nephropathy skos:closeMatch MONDO:0005376 membranous glomerulonephritis semapv:ManualMappingCuration +NANDO:2200116 Denys-Drash syndrome skos:closeMatch MONDO:0008682 Denys-Drash syndrome semapv:ManualMappingCuration +NANDO:2200117 Pierson syndrome skos:closeMatch MONDO:0012184 Pierson syndrome semapv:ManualMappingCuration +NANDO:2200118 Central nervous system malformation syndrome skos:closeMatch MONDO:0020022 central nervous system malformation semapv:ManualMappingCuration +NANDO:2200119 Herlitz junctional epidermolysis bullosa skos:closeMatch MONDO:0009182 junctional epidermolysis bullosa Herlitz type semapv:ManualMappingCuration +NANDO:2200120 Galloway-Mowat syndrome skos:closeMatch MONDO:0009627 Galloway-Mowat syndrome semapv:ManualMappingCuration +NANDO:2200121 IgA nephropathy skos:closeMatch MONDO:0005342 IgA glomerulonephritis semapv:ManualMappingCuration +NANDO:2200122 Mesangial proliferative glomerulonephritis skos:closeMatch MONDO:0003139 mesangial proliferative glomerulonephritis semapv:ManualMappingCuration +NANDO:2200123 Membranoproliferative glomerulonephritis skos:closeMatch MONDO:0002461 membranoproliferative glomerulonephritis semapv:ManualMappingCuration +NANDO:2200123 Membranoproliferative glomerulonephritis skos:closeMatch MONDO:0018904 primary membranoproliferative glomerulonephritis semapv:ManualMappingCuration +NANDO:2200125 Goodpasture syndrome skos:closeMatch MONDO:0009303 anti-glomerular basement membrane disease semapv:ManualMappingCuration +NANDO:2200126 Alport syndrome skos:closeMatch MONDO:0018965 Alport syndrome semapv:ManualMappingCuration +NANDO:2200127 Epstein syndrome skos:closeMatch MONDO:0007954 obsolete May-Hegglin anomaly semapv:ManualMappingCuration +NANDO:2200128 Lupus nephritis skos:closeMatch MONDO:0005556 lupus nephritis semapv:ManualMappingCuration +NANDO:2200131 Atypical hemolytic uremic syndrome skos:closeMatch MONDO:0016244 atypical hemolytic-uremic syndrome semapv:ManualMappingCuration +NANDO:2200132 Nail-patella syndrome skos:closeMatch MONDO:0008061 nail-patella syndrome semapv:ManualMappingCuration +NANDO:2200133 Glomerulopathy with fibronectin deposits, fibronectin nephropathy skos:closeMatch MONDO:0007671 fibronectin glomerulopathy semapv:ManualMappingCuration +NANDO:2200134 Lipoprotein glomerulopathy skos:closeMatch MONDO:0012725 lipoprotein glomerulopathy semapv:ManualMappingCuration +NANDO:2200136 Tubulointerstitial nephritis skos:closeMatch MONDO:0001085 interstitial nephritis semapv:ManualMappingCuration +NANDO:2200137 Chronic pyelonephritis skos:closeMatch MONDO:0001110 chronic pyelonephritis semapv:ManualMappingCuration +NANDO:2200138 Amyloid nephropathy skos:closeMatch MONDO:0019065 amyloidosis semapv:ManualMappingCuration +NANDO:2200139 Familial juvenile hyperuricemic nephropathy skos:closeMatch MONDO:0000608 familial juvenile hyperuricemic nephropathy semapv:ManualMappingCuration +NANDO:2200140 Nephronophthisis skos:closeMatch MONDO:0009728 nephronophthisis 1 semapv:ManualMappingCuration +NANDO:2200140 Nephronophthisis skos:closeMatch MONDO:0019005 nephronophthisis semapv:ManualMappingCuration +NANDO:2200141 Renovascular hypertension skos:closeMatch MONDO:0001105 renal hypertension semapv:ManualMappingCuration +NANDO:2200141 Renovascular hypertension skos:closeMatch MONDO:0006947 renovascular hypertension semapv:ManualMappingCuration +NANDO:2200144 Renal tubular acidosis skos:closeMatch MONDO:0001909 renal tubular acidosis semapv:ManualMappingCuration +NANDO:2200145 Gitelman syndrome skos:closeMatch MONDO:0009904 Gitelman syndrome semapv:ManualMappingCuration +NANDO:2200146 Bartter syndrome skos:closeMatch MONDO:0015231 Bartter syndrome semapv:ManualMappingCuration +NANDO:2200152 Polycystic kidney disease skos:closeMatch MONDO:0020642 polycystic kidney disease semapv:ManualMappingCuration +NANDO:2200153 Autosomal dominant polycystic kidney disease skos:closeMatch MONDO:0004691 autosomal dominant polycystic kidney disease semapv:ManualMappingCuration +NANDO:2200154 Autosomal recessive polycystic kidney disease skos:closeMatch MONDO:0009889 autosomal recessive polycystic kidney disease semapv:ManualMappingCuration +NANDO:2200155 Hypoplastic kidney skos:closeMatch MONDO:0019637 renal hypoplasia semapv:ManualMappingCuration +NANDO:2200156 Renal aplasia skos:closeMatch MONDO:0018470 renal agenesis semapv:ManualMappingCuration +NANDO:2200157 Potter syndrome skos:closeMatch MONDO:0001558 Potter sequence semapv:ManualMappingCuration +NANDO:2200158 Multicystic dysplastic kidney skos:closeMatch MONDO:0015988 multicystic dysplastic kidney semapv:ManualMappingCuration +NANDO:2200159 Oligomeganephronia skos:closeMatch MONDO:0016407 oligomeganephronia semapv:ManualMappingCuration +NANDO:2200161 Renal dysplasia skos:closeMatch MONDO:0019638 renal dysplasia semapv:ManualMappingCuration +NANDO:2200170 Medullary cystic kidney skos:closeMatch MONDO:0019005 nephronophthisis semapv:ManualMappingCuration +NANDO:2200171 Multilocular cysts of the kidney skos:closeMatch MONDO:0019983 multiloculated renal cyst semapv:ManualMappingCuration +NANDO:2200172 Simple renal cyst skos:closeMatch MONDO:0002473 cystic kidney disease semapv:ManualMappingCuration +NANDO:2200173 Medullary sponge kidney skos:closeMatch MONDO:0015268 medullary sponge kidney semapv:ManualMappingCuration +NANDO:2200176 Ureteropelvic junction obstruction skos:closeMatch MONDO:0007741 congenital hydronephrosis semapv:ManualMappingCuration +NANDO:2200177 Megacalycosis skos:closeMatch MONDO:0019639 congenital megacalycosis semapv:ManualMappingCuration +NANDO:2200178 Obstructive uropathy skos:closeMatch MONDO:0003330 urinary tract obstruction semapv:ManualMappingCuration +NANDO:2200179 Vesicoureteral reflux skos:closeMatch MONDO:0006007 vesicoureteral reflux semapv:ManualMappingCuration +NANDO:2200183 Ureteroceles skos:closeMatch MONDO:0008628 ureterocele semapv:ManualMappingCuration +NANDO:2200184 Megaureter skos:closeMatch MONDO:0018960 congenital primary megaureter semapv:ManualMappingCuration +NANDO:2200185 Prune belly syndrome skos:closeMatch MONDO:0007032 prune belly syndrome semapv:ManualMappingCuration +NANDO:2200187 Fanconi syndrome skos:closeMatch MONDO:0001083 Fanconi renotubular syndrome semapv:ManualMappingCuration +NANDO:2200188 Lowe syndrome skos:closeMatch MONDO:0010645 oculocerebrorenal syndrome semapv:ManualMappingCuration +NANDO:2200190 Laryngeal stenosis skos:closeMatch MONDO:0015395 congenital subglottic stenosis semapv:ManualMappingCuration +NANDO:2200194 Tracheal stenosis skos:closeMatch MONDO:0002568 tracheal stenosis semapv:ManualMappingCuration +NANDO:2200195 Tracheomalacia skos:closeMatch MONDO:0019804 tracheomalacia semapv:ManualMappingCuration +NANDO:2200198 Congenital central hypoventilation syndrome skos:closeMatch MONDO:0008852 obsolete congenital central hypoventilation syndrome semapv:ManualMappingCuration +NANDO:2200199 Idiopathic interstitial pneumonia skos:closeMatch MONDO:0002429 idiopathic interstitial pneumonia semapv:ManualMappingCuration +NANDO:2200200 Congenital alveolar proteinosis skos:closeMatch MONDO:0012580 hereditary pulmonary alveolar proteinosis semapv:ManualMappingCuration +NANDO:2200202 Pulmonary alveolar microlithiasis skos:closeMatch MONDO:0009928 pulmonary alveolar microlithiasis semapv:ManualMappingCuration +NANDO:2200203 Primary ciliary dyskinesia skos:closeMatch MONDO:0016575 primary ciliary dyskinesia semapv:ManualMappingCuration +NANDO:2200204 Kartagener syndrome skos:closeMatch MONDO:0016575 primary ciliary dyskinesia semapv:ManualMappingCuration +NANDO:2200205 Cystic fibrosis skos:closeMatch MONDO:0009061 cystic fibrosis semapv:ManualMappingCuration +NANDO:2200206 Bronchiectasis skos:closeMatch MONDO:0004822 bronchiectasis semapv:ManualMappingCuration +NANDO:2200207 Idiopathic pulmonary hemosiderosis skos:closeMatch MONDO:0008346 pulmonary hemosiderosis semapv:ManualMappingCuration +NANDO:2200209 Bronchiolitis obliterans skos:closeMatch MONDO:0015265 bronchiolitis obliterans syndrome semapv:ManualMappingCuration +NANDO:2200210 Congenital diaphragmatic hernia skos:closeMatch MONDO:0005711 congenital diaphragmatic hernia semapv:ManualMappingCuration +NANDO:2200212 Sick sinus syndrome skos:closeMatch MONDO:0001823 sick sinus syndrome semapv:ManualMappingCuration +NANDO:2200213 Mobitz type II second degree atrioventricular block skos:closeMatch MONDO:0001261 Mobitz type II atrioventricular block semapv:ManualMappingCuration +NANDO:2200214 Complete atrio-ventricular block skos:closeMatch MONDO:0000468 third-degree atrioventricular block semapv:ManualMappingCuration +NANDO:2200215 Bundle branch block skos:closeMatch MONDO:0020803 obsolete bundle branch block semapv:ManualMappingCuration +NANDO:2200216 Polymorphic ventricular premature beat skos:closeMatch MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia semapv:ManualMappingCuration +NANDO:2200217 Supraventricular tachycardia due to WPW syndrome skos:closeMatch MONDO:0008685 Wolff-Parkinson-White syndrome semapv:ManualMappingCuration +NANDO:2200218 Multiple atrial tachycardia skos:closeMatch MONDO:0005479 atrial tachycardia semapv:ManualMappingCuration +NANDO:2200221 Catecholaminergic polymorphic ventricular tachycardia skos:closeMatch MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia semapv:ManualMappingCuration +NANDO:2200225 Atrial flutter skos:closeMatch MONDO:0005310 atrial flutter semapv:ManualMappingCuration +NANDO:2200226 Atrial fibrillation skos:closeMatch MONDO:0004981 atrial fibrillation semapv:ManualMappingCuration +NANDO:2200227 Ventricular fibrillation skos:closeMatch MONDO:0000190 ventricular fibrillation semapv:ManualMappingCuration +NANDO:2200228 Long qt syndrome skos:closeMatch MONDO:0002442 long QT syndrome semapv:ManualMappingCuration +NANDO:2200228 Long qt syndrome skos:closeMatch MONDO:0019171 familial long QT syndrome semapv:ManualMappingCuration +NANDO:2200229 Hypertrophic cardiomyopathy skos:closeMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:ManualMappingCuration +NANDO:2200230 Arrhythmogenic right ventricular cardiomyopathy or dysplasia skos:closeMatch MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy semapv:ManualMappingCuration +NANDO:2200231 Non-compaction of the ventricle skos:closeMatch MONDO:0018901 left ventricular noncompaction semapv:ManualMappingCuration +NANDO:2200232 Dilated cardiomyopathy skos:closeMatch MONDO:0005021 dilated cardiomyopathy semapv:ManualMappingCuration +NANDO:2200233 Restrictive cardiomyopathy skos:closeMatch MONDO:0005201 restrictive cardiomyopathy semapv:ManualMappingCuration +NANDO:2200234 Aneurysm of ventricle skos:closeMatch MONDO:0006779 heart aneurysm semapv:ManualMappingCuration +NANDO:2200234 Aneurysm of ventricle skos:closeMatch MONDO:0015677 cardiac diverticulum semapv:ManualMappingCuration +NANDO:2200235 Endocardial fibroelastosis skos:closeMatch MONDO:0009169 endocardial fibroelastosis semapv:ManualMappingCuration +NANDO:2200236 Cardiac tumor skos:closeMatch MONDO:0021209 heart neoplasm semapv:ManualMappingCuration +NANDO:2200239 Constrictive pericarditis skos:closeMatch MONDO:0006711 constrictive pericarditis semapv:ManualMappingCuration +NANDO:2200242 Abnormal origin of left coronary artery from pulmonary artery skos:closeMatch MONDO:0000811 anomalous left coronary artery from the pulmonary artery semapv:ManualMappingCuration +NANDO:2200246 Stenosis or atresia of coronary artery skos:closeMatch MONDO:0006715 coronary stenosis semapv:ManualMappingCuration +NANDO:2200248 Myocardial infarction skos:closeMatch MONDO:0005068 myocardial infarction semapv:ManualMappingCuration +NANDO:2200249 Hypoplastic left heart syndrome skos:closeMatch MONDO:0004933 hypoplastic left heart syndrome semapv:ManualMappingCuration +NANDO:2200250 Single ventricle skos:closeMatch MONDO:0015451 univentricular heart semapv:ManualMappingCuration +NANDO:2200251 Tricuspid atresia skos:closeMatch MONDO:0011514 tricuspid atresia semapv:ManualMappingCuration +NANDO:2200252 Pulmonary atresia with ventricular septal defect skos:closeMatch MONDO:0008343 pulmonary atresia with ventricular septal defect semapv:ManualMappingCuration +NANDO:2200253 Pulmonary atresia with intact ventricular septum skos:closeMatch MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome semapv:ManualMappingCuration +NANDO:2200254 Tetralogy of Fallot skos:closeMatch MONDO:0008542 tetralogy of fallot semapv:ManualMappingCuration +NANDO:2200256 Double outlet right ventricle skos:closeMatch MONDO:0018089 double outlet right ventricle semapv:ManualMappingCuration +NANDO:2200257 Double-outlet left ventricle skos:closeMatch MONDO:0018090 double outlet left ventricle semapv:ManualMappingCuration +NANDO:2200258 Complete transposition of the great arteries skos:closeMatch MONDO:0000153 transposition of the great arteries semapv:ManualMappingCuration +NANDO:2200259 Congenitally corrected transposition of the great arteries skos:closeMatch MONDO:0016301 congenitally corrected transposition of the great arteries semapv:ManualMappingCuration +NANDO:2200260 Ebstein's anomaly skos:closeMatch MONDO:0009144 Ebstein anomaly semapv:ManualMappingCuration +NANDO:2200262 Aorto-pulmonary window skos:closeMatch MONDO:0021902 aortopulmonary window semapv:ManualMappingCuration +NANDO:2200263 Cor triatriatum skos:closeMatch MONDO:0015450 triatrial heart semapv:ManualMappingCuration +NANDO:2200264 Patent ductus arteriosus skos:closeMatch MONDO:0011827 patent ductus arteriosus semapv:ManualMappingCuration +NANDO:2200266 Atrial septal defect, ostium secundum type skos:closeMatch MONDO:0020434 atrial septal defect, ostium secundum type semapv:ManualMappingCuration +NANDO:2200266 Atrial septal defect, ostium secundum type skos:closeMatch MONDO:0020439 patent foramen ovale semapv:ManualMappingCuration +NANDO:2200267 Atrial septal defect, sinus venosus type skos:closeMatch MONDO:0020436 atrial septal defect, sinus venosus type semapv:ManualMappingCuration +NANDO:2200268 Incomplete atrioventricular septal defect skos:closeMatch MONDO:0015275 partial atrioventricular canal semapv:ManualMappingCuration +NANDO:2200269 Complete atrioventricular septal defect skos:closeMatch MONDO:0015273 complete atrioventricular canal semapv:ManualMappingCuration +NANDO:2200270 Ventricular septal defect skos:closeMatch MONDO:0002070 ventricular septal defect semapv:ManualMappingCuration +NANDO:2200271 Total anomalous pulmonary venous connection skos:closeMatch MONDO:0007130 congenital total pulmonary venous return anomaly semapv:ManualMappingCuration +NANDO:2200272 Partial anomalous pulmonary venous connection skos:closeMatch MONDO:0020453 congenital partial pulmonary venous return anomaly semapv:ManualMappingCuration +NANDO:2200273 Pulmonary venous obstruction skos:closeMatch MONDO:0017864 congenital pulmonary veins atresia or stenosis semapv:ManualMappingCuration +NANDO:2200274 Left ventricular-right atrial communication skos:closeMatch MONDO:0020428 congenital Gerbode defect semapv:ManualMappingCuration +NANDO:2200275 Double-chambered right ventricle skos:closeMatch MONDO:0016581 conotruncal heart malformations semapv:ManualMappingCuration +NANDO:2200276 Subvalvular pulmonary stenosis skos:closeMatch MONDO:0006935 pulmonary subvalvular stenosis semapv:ManualMappingCuration +NANDO:2200277 Subvalvular aortic stenosis skos:closeMatch MONDO:0006987 subvalvular aortic stenosis semapv:ManualMappingCuration +NANDO:2200278 Supravalvular pulmonary stenosis skos:closeMatch MONDO:0017870 supravalvular pulmonary stenosis semapv:ManualMappingCuration +NANDO:2200280 Absent pulmonary valve skos:closeMatch MONDO:0020064 pulmonary valve agenesis semapv:ManualMappingCuration +NANDO:2200281 Origin of pulmonary artery from ascending aorta skos:closeMatch MONDO:0020391 pulmonary artery coming from the aorta semapv:ManualMappingCuration +NANDO:2200282 Unilateral absence of a pulmonary artery skos:closeMatch MONDO:0020007 absence of the pulmonary artery semapv:ManualMappingCuration +NANDO:2200283 Coarctation of the aorta skos:closeMatch MONDO:0007345 aorta coarctation semapv:ManualMappingCuration +NANDO:2200284 Coarctation complex skos:closeMatch MONDO:0007345 aorta coarctation semapv:ManualMappingCuration +NANDO:2200285 Supravalvular aortic stenosis skos:closeMatch MONDO:0008504 supravalvular aortic stenosis semapv:ManualMappingCuration +NANDO:2200286 Williams syndrome skos:closeMatch MONDO:0008678 Williams syndrome semapv:ManualMappingCuration +NANDO:2200288 Interruption of aortic arch complex skos:closeMatch MONDO:0009010 aortic arch interruption semapv:ManualMappingCuration +NANDO:2200290 Double aortic arch disease skos:closeMatch MONDO:0020413 encircling double aortic arch semapv:ManualMappingCuration +NANDO:2200293 Aneurysm of sinus valsalva skos:closeMatch MONDO:0015197 aneurysm of sinus of Valsalva semapv:ManualMappingCuration +NANDO:2200294 Aortic aneurysm skos:closeMatch MONDO:0005160 aortic aneurysm semapv:ManualMappingCuration +NANDO:2200295 Pulmonary arteriovenous fistulae skos:closeMatch MONDO:0009930 obsolete pulmonary arteriovenous malformation semapv:ManualMappingCuration +NANDO:2200296 Coronary artery fistula skos:closeMatch MONDO:0016081 coronary arterial fistulas semapv:ManualMappingCuration +NANDO:2200298 Pulmonary arterial hypertension skos:closeMatch MONDO:0015924 pulmonary arterial hypertension semapv:ManualMappingCuration +NANDO:2200299 Chronic cor pulmonale skos:closeMatch MONDO:0001493 chronic pulmonary heart disease semapv:ManualMappingCuration +NANDO:2200300 Tricuspid valve stenosis skos:closeMatch MONDO:0005997 tricuspid valve stenosis semapv:ManualMappingCuration +NANDO:2200301 Tricuspid valve regurgitation skos:closeMatch MONDO:0002870 tricuspid valve insufficiency semapv:ManualMappingCuration +NANDO:2200302 Mitral valve stenosis skos:closeMatch MONDO:0005852 mitral valve stenosis semapv:ManualMappingCuration +NANDO:2200303 Mitral regurgitation skos:closeMatch MONDO:0001298 congenital mitral valve insufficiency semapv:ManualMappingCuration +NANDO:2200304 Pulmonary valve stenosis skos:closeMatch MONDO:0006936 pulmonary valve stenosis semapv:ManualMappingCuration +NANDO:2200305 Pulmonary valve regurgitation skos:closeMatch MONDO:0001927 pulmonary valve insufficiency semapv:ManualMappingCuration +NANDO:2200306 Aortic valve stenosis skos:closeMatch MONDO:0042981 aortic valve stenosis semapv:ManualMappingCuration +NANDO:2200307 Aortic valve regurgitation skos:closeMatch MONDO:0005648 aortic valve insufficiency semapv:ManualMappingCuration +NANDO:2200308 Supramitral ring skos:closeMatch MONDO:0020400 congenital supravalvular mitral ring semapv:ManualMappingCuration +NANDO:2200312 Congenital hypopituitarism skos:closeMatch MONDO:0018762 non-acquired combined pituitary hormone deficiency semapv:ManualMappingCuration +NANDO:2200313 Acquired hypopituitarism skos:closeMatch MONDO:0019832 acquired pituitary hormone deficiency semapv:ManualMappingCuration +NANDO:2200314 Pituitary gigantism skos:closeMatch MONDO:0020479 pituitary gigantism semapv:ManualMappingCuration +NANDO:2200315 Acromegaly skos:closeMatch MONDO:0019933 acromegaly semapv:ManualMappingCuration +NANDO:2200317 Congenital growth hormone deficiency skos:closeMatch MONDO:0000050 isolated congenital growth hormone deficiency semapv:ManualMappingCuration +NANDO:2200320 IGF1 insensitivity skos:closeMatch MONDO:0010038 growth delay due to insulin-like growth factor I resistance semapv:ManualMappingCuration +NANDO:2200321 Growth hormone insensitivity skos:closeMatch MONDO:0015892 growth hormone insensitivity syndrome semapv:ManualMappingCuration +NANDO:2200322 Hyperprolactinemia skos:closeMatch MONDO:0005804 hyperprolactinemia semapv:ManualMappingCuration +NANDO:2200323 Syndrome of inappropriate secretion of antidiuretic hormone skos:closeMatch MONDO:0006802 inappropriate ADH syndrome semapv:ManualMappingCuration +NANDO:2200324 Central diabetes insipidus skos:closeMatch MONDO:0015790 central diabetes insipidus semapv:ManualMappingCuration +NANDO:2200325 Adipsic hypernatremia skos:closeMatch MONDO:0018620 hypothalamic adipsic hypernatraemia syndrome semapv:ManualMappingCuration +NANDO:2200326 Nephrogenic diabetes insipidus skos:closeMatch MONDO:0016383 nephrogenic diabetes insipidus semapv:ManualMappingCuration +NANDO:2200328 Basedow disease skos:closeMatch MONDO:0005364 Graves disease semapv:ManualMappingCuration +NANDO:2200329 Hyperthyroidism skos:closeMatch MONDO:0004425 hyperthyroidism semapv:ManualMappingCuration +NANDO:2200330 Ectoic thyroid skos:closeMatch MONDO:0019854 thyroid ectopia semapv:ManualMappingCuration +NANDO:2200331 Thyroid agenesis skos:closeMatch MONDO:0019855 athyreosis semapv:ManualMappingCuration +NANDO:2200332 Thyroid-stimulating hormone deficiency skos:closeMatch MONDO:0016410 central congenital hypothyroidism semapv:ManualMappingCuration +NANDO:2200333 Congenital hypothyroidism skos:closeMatch MONDO:0018612 congenital hypothyroidism semapv:ManualMappingCuration +NANDO:2200335 Hashimoto disease skos:closeMatch MONDO:0007699 Hashimoto thyroiditis semapv:ManualMappingCuration +NANDO:2200336 Atrophic thyroiditis skos:closeMatch MONDO:0005624 atrophic thyroiditis semapv:ManualMappingCuration +NANDO:2200340 Central hypothyroidism skos:closeMatch MONDO:0016410 central congenital hypothyroidism semapv:ManualMappingCuration +NANDO:2200341 Resistance to thyroid hormone skos:closeMatch MONDO:0001328 thyroid hormone resistance syndrome semapv:ManualMappingCuration +NANDO:2200341 Resistance to thyroid hormone skos:closeMatch MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive semapv:ManualMappingCuration +NANDO:2200343 Hyperparathyroidism skos:closeMatch MONDO:0001741 hyperparathyroidism semapv:ManualMappingCuration +NANDO:2200345 Hypoparathyroidism skos:closeMatch MONDO:0001220 hypoparathyroidism semapv:ManualMappingCuration +NANDO:2200345 Hypoparathyroidism skos:closeMatch MONDO:0015895 obsolete syndrome with hypoparathyroidism semapv:ManualMappingCuration +NANDO:2200346 Autoimmune polyendocrinopathy type 1 skos:closeMatch MONDO:0009411 autoimmune polyendocrine syndrome type 1 semapv:ManualMappingCuration +NANDO:2200347 Autoimmune polyendocrinopathy type 2 skos:closeMatch MONDO:0010012 autoimmune polyendocrinopathy type 2 semapv:ManualMappingCuration +NANDO:2200348 Pseudopseudohypoparathyroidism skos:closeMatch MONDO:0012912 pseudopseudohypoparathyroidism semapv:ManualMappingCuration +NANDO:2200349 Pseudohypoparathyroidism skos:closeMatch MONDO:0019992 pseudohypoparathyroidism semapv:ManualMappingCuration +NANDO:2200350 Cushing disease skos:closeMatch MONDO:0009050 Cushing disease due to pituitary adenoma semapv:ManualMappingCuration +NANDO:2200351 Ectopic ACTH syndrome skos:closeMatch MONDO:0043472 ectopic ACTH secretion syndrome semapv:ManualMappingCuration +NANDO:2200352 Adrenal adenoma skos:closeMatch MONDO:0003924 adrenal cortex adenoma semapv:ManualMappingCuration +NANDO:2200357 Congenital adrenal hypoplasia skos:closeMatch MONDO:0010264 X-linked adrenal hypoplasia congenita semapv:ManualMappingCuration +NANDO:2200357 Congenital adrenal hypoplasia skos:closeMatch MONDO:0016241 alternating hemiplegia of childhood semapv:ManualMappingCuration +NANDO:2200358 Glucocorticoid resistance skos:closeMatch MONDO:0014421 glucocorticoid resistance semapv:ManualMappingCuration +NANDO:2200359 Other chronic adrenal insufficiency skos:closeMatch MONDO:0009410 obsolete Addison disease semapv:ManualMappingCuration +NANDO:2200359 Other chronic adrenal insufficiency skos:closeMatch MONDO:0015129 chronic primary adrenal insufficiency semapv:ManualMappingCuration +NANDO:2200360 Addison's disease skos:closeMatch MONDO:0009410 obsolete Addison disease semapv:ManualMappingCuration +NANDO:2200360 Addison's disease skos:closeMatch MONDO:0015129 chronic primary adrenal insufficiency semapv:ManualMappingCuration +NANDO:2200361 Aldosteronism skos:closeMatch MONDO:0001422 primary aldosteronism semapv:ManualMappingCuration +NANDO:2200362 Apparent mineralocorticoid excess syndrome skos:closeMatch MONDO:0006657 obsolete apparent mineralocorticoid excess syndrome semapv:ManualMappingCuration +NANDO:2200362 Apparent mineralocorticoid excess syndrome skos:closeMatch MONDO:0009025 apparent mineralocorticoid excess semapv:ManualMappingCuration +NANDO:2200363 Liddle syndrome skos:closeMatch MONDO:0008323 Liddle syndrome semapv:ManualMappingCuration +NANDO:2200365 Aldosterone synthase deficiency skos:closeMatch MONDO:0020489 familial hyperreninemic hypoaldosteronism type 1 semapv:ManualMappingCuration +NANDO:2200367 Pseudohypoaldosteronism skos:closeMatch MONDO:0018638 pseudohypoaldosteronism semapv:ManualMappingCuration +NANDO:2200368 Pseudohypoaldosteronism type I skos:closeMatch MONDO:0019161 pseudohypoaldosteronism type 1 semapv:ManualMappingCuration +NANDO:2200369 Pseudohypoaldosteronism type II skos:closeMatch MONDO:0019162 pseudohypoaldosteronism type 2 semapv:ManualMappingCuration +NANDO:2200370 Congenital lipoid adrenal hyperplasia skos:closeMatch MONDO:0018479 congenital adrenal hyperplasia semapv:ManualMappingCuration +NANDO:2200371 3 beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:2200372 11-β-Hydroxylase deficiency skos:closeMatch MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:ManualMappingCuration +NANDO:2200373 17 alpha-hydroxylase deficiency skos:closeMatch MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency semapv:ManualMappingCuration +NANDO:2200375 P450 oxidoreductase deficiency skos:closeMatch MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency semapv:ManualMappingCuration +NANDO:2200377 Gonadotropin-dependent precocious puberty skos:closeMatch MONDO:0019165 central precocious puberty semapv:ManualMappingCuration +NANDO:2200378 Non-gonadotropin-dependent precocious puberty skos:closeMatch MONDO:0015791 peripheral precocious puberty semapv:ManualMappingCuration +NANDO:2200379 Hyperestrogenism skos:closeMatch MONDO:0001946 obsolete hyperestrogenism semapv:ManualMappingCuration +NANDO:2200380 Hyperandrogenism skos:closeMatch MONDO:0001324 obsolete hyperandrogenism semapv:ManualMappingCuration +NANDO:2200381 Kallmann syndrome skos:closeMatch MONDO:0018800 Kallmann syndrome semapv:ManualMappingCuration +NANDO:2200382 Hypogonadotropic hypogonadism skos:closeMatch MONDO:0018555 hypogonadotropic hypogonadism semapv:ManualMappingCuration +NANDO:2200383 Testicular dysgenesis skos:closeMatch MONDO:0005437 testicular dysgenesis syndrome semapv:ManualMappingCuration +NANDO:2200386 Klinefelter syndrome skos:closeMatch MONDO:0006823 Klinefelter syndrome semapv:ManualMappingCuration +NANDO:2200387 Ovotesticular dsd skos:closeMatch MONDO:0016281 46,XX ovotesticular disorder of sex development semapv:ManualMappingCuration +NANDO:2200388 Mixed gonadal dysgenesis skos:closeMatch MONDO:0001969 mixed gonadal dysgenesis semapv:ManualMappingCuration +NANDO:2200388 Mixed gonadal dysgenesis skos:closeMatch MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis semapv:ManualMappingCuration +NANDO:2200390 17 beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency semapv:ManualMappingCuration +NANDO:2200391 Androgen insensitivity syndrome skos:closeMatch MONDO:0019154 androgen insensitivity syndrome semapv:ManualMappingCuration +NANDO:2200393 Disorders of sex development of 46,XX skos:closeMatch MONDO:0020040 46,XY disorder of sex development semapv:ManualMappingCuration +NANDO:2200393 Disorders of sex development of 46,XX skos:closeMatch MONDO:0020042 obsolete syndrome with 46,XY disorder of sex development semapv:ManualMappingCuration +NANDO:2200394 Vipoma skos:closeMatch MONDO:0019960 VIPoma semapv:ManualMappingCuration +NANDO:2200395 Gastrinoma skos:closeMatch MONDO:0003523 gastrin-producing neuroendocrine tumor semapv:ManualMappingCuration +NANDO:2200396 Carcinoid syndrome skos:closeMatch MONDO:0005369 carcinoid tumor semapv:ManualMappingCuration +NANDO:2200396 Carcinoid syndrome skos:closeMatch MONDO:0006689 obsolete carcinoid syndrome semapv:ManualMappingCuration +NANDO:2200397 Glucagonoma skos:closeMatch MONDO:0019959 glucagonoma semapv:ManualMappingCuration +NANDO:2200398 Insulinoma skos:closeMatch MONDO:0024677 pancreatic insulinoma semapv:ManualMappingCuration +NANDO:2200399 Congenital hyperinsulinemia skos:closeMatch MONDO:0005803 hyperinsulinemic hypoglycemia semapv:ManualMappingCuration +NANDO:2200399 Congenital hyperinsulinemia skos:closeMatch MONDO:0017182 familial hyperinsulinism semapv:ManualMappingCuration +NANDO:2200401 Vitamin D-dependent rickets skos:closeMatch MONDO:0024299 vitamin D-dependent rickets semapv:ManualMappingCuration +NANDO:2200402 Vitamin D-resistant osteomalacia skos:closeMatch MONDO:0024300 hypophosphatemic rickets semapv:ManualMappingCuration +NANDO:2200403 Primary hypophosphatemic rickets skos:closeMatch MONDO:0024300 hypophosphatemic rickets semapv:ManualMappingCuration +NANDO:2200404 Lipodystrophy skos:closeMatch MONDO:0006573 lipodystrophy semapv:ManualMappingCuration +NANDO:2200405 Multiple endocrine neoplasia type 1 skos:closeMatch MONDO:0007540 multiple endocrine neoplasia type 1 semapv:ManualMappingCuration +NANDO:2200406 Multiple endocrine neoplasia type 2 skos:closeMatch MONDO:0008234 multiple endocrine neoplasia type 2A semapv:ManualMappingCuration +NANDO:2200406 Multiple endocrine neoplasia type 2 skos:closeMatch MONDO:0019003 multiple endocrine neoplasia type 2 semapv:ManualMappingCuration +NANDO:2200408 Von Hippel-Lindau disease skos:closeMatch MONDO:0008667 von Hippel-Lindau disease semapv:ManualMappingCuration +NANDO:2200409 Polycystic ovary syndrome skos:closeMatch MONDO:0008487 polycystic ovary syndrome semapv:ManualMappingCuration +NANDO:2200410 Turner syndrome skos:closeMatch MONDO:0019499 Turner syndrome semapv:ManualMappingCuration +NANDO:2200411 Prader-Willi syndrome skos:closeMatch MONDO:0008300 Prader-Willi syndrome semapv:ManualMappingCuration +NANDO:2200412 McCune-Albright syndrome skos:closeMatch MONDO:0018919 McCune-Albright syndrome semapv:ManualMappingCuration +NANDO:2200413 Noonan syndrome skos:closeMatch MONDO:0018997 Noonan syndrome semapv:ManualMappingCuration +NANDO:2200414 Bardet-Biedl syndrome skos:closeMatch MONDO:0015229 Bardet-Biedl syndrome semapv:ManualMappingCuration +NANDO:2200415 Juvenile idiopathic arthritis skos:closeMatch MONDO:0011429 juvenile idiopathic arthritis semapv:ManualMappingCuration +NANDO:2200416 Systemic lupus erythematosus skos:closeMatch MONDO:0007915 systemic lupus erythematosus semapv:ManualMappingCuration +NANDO:2200418 Juvenile dermatomyositis skos:closeMatch MONDO:0008054 juvenile dermatomyositis semapv:ManualMappingCuration +NANDO:2200419 Juvenile polymyositis skos:closeMatch MONDO:0019734 juvenile polymyositis semapv:ManualMappingCuration +NANDO:2200420 Sjogren's syndrome skos:closeMatch MONDO:0010030 Sjogren syndrome semapv:ManualMappingCuration +NANDO:2200421 Anti-phospholipid antibody syndrome skos:closeMatch MONDO:0007140 obsolete antiphospholipid syndrome semapv:ManualMappingCuration +NANDO:2200422 Behcet's disease skos:closeMatch MONDO:0007191 Behcet disease semapv:ManualMappingCuration +NANDO:2200423 Takayasu arteritis skos:closeMatch MONDO:0006656 aortitis semapv:ManualMappingCuration +NANDO:2200423 Takayasu arteritis skos:closeMatch MONDO:0017991 Takayasu arteritis semapv:ManualMappingCuration +NANDO:2200424 Granulomatosis with polyangiitis skos:closeMatch MONDO:0012105 granulomatosis with polyangiitis semapv:ManualMappingCuration +NANDO:2200426 Microscopic polyangiitis skos:closeMatch MONDO:0019124 microscopic polyangiitis semapv:ManualMappingCuration +NANDO:2200427 Eosinophilic granulomatosis with polyangiitis skos:closeMatch MONDO:0015943 eosinophilic granulomatosis with polyangiitis semapv:ManualMappingCuration +NANDO:2200428 Relapsing polychondritis skos:closeMatch MONDO:0019125 relapsing polychondritis semapv:ManualMappingCuration +NANDO:2200429 Systemic sclerosis skos:closeMatch MONDO:0005100 systemic sclerosis semapv:ManualMappingCuration +NANDO:2200430 Mixed connective tissue disease skos:closeMatch MONDO:0005854 mixed connective tissue disease semapv:ManualMappingCuration +NANDO:2200431 Familial Mediterranean fever skos:closeMatch MONDO:0018088 familial Mediterranean fever semapv:ManualMappingCuration +NANDO:2200432 Cryopyrin-associated periodic syndrome skos:closeMatch MONDO:0016168 cryopyrin-associated periodic syndrome semapv:ManualMappingCuration +NANDO:2200433 TNF receptor-associated periodic fever syndrome skos:closeMatch MONDO:0007727 autosomal dominant familial periodic fever semapv:ManualMappingCuration +NANDO:2200434 Blau syndrome, early onset sarcoidosis skos:closeMatch MONDO:0008523 Blau syndrome semapv:ManualMappingCuration +NANDO:2200435 Nakajo-Nishimura syndrome skos:closeMatch MONDO:0009726 proteosome-associated autoinflammatory syndrome semapv:ManualMappingCuration +NANDO:2200436 Hyper IgD syndrome skos:closeMatch MONDO:0009849 hyperimmunoglobulinemia D with periodic fever semapv:ManualMappingCuration +NANDO:2200436 Hyper IgD syndrome skos:closeMatch MONDO:0017708 mevalonate kinase deficiency semapv:ManualMappingCuration +NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome skos:closeMatch MONDO:0004471 bacterial arthritis semapv:ManualMappingCuration +NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome skos:closeMatch MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome semapv:ManualMappingCuration +NANDO:2200437 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome skos:closeMatch MONDO:0018824 pyoderma gangrenosum semapv:ManualMappingCuration +NANDO:2200438 Chronic recurrent multifocal osteomyelitis skos:closeMatch MONDO:0009813 chronic recurrent multifocal osteomyelitis semapv:ManualMappingCuration +NANDO:2200439 Deficiency of the interleukin-1-receptor antagonist skos:closeMatch MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis semapv:ManualMappingCuration +NANDO:2200442 Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation skos:closeMatch MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation semapv:ManualMappingCuration +NANDO:2200443 CARD14 deficiency skos:closeMatch MONDO:0011269 psoriasis 2 semapv:ManualMappingCuration +NANDO:2200444 Cherubism skos:closeMatch MONDO:0007315 cherubism semapv:ManualMappingCuration +NANDO:2200446 IL10 deficiency skos:closeMatch MONDO:0016542 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome semapv:ManualMappingCuration +NANDO:2200447 IL-10RA deficiency skos:closeMatch MONDO:0013153 inflammatory bowel disease 28 semapv:ManualMappingCuration +NANDO:2200448 IL-10RB deficiency skos:closeMatch MONDO:0012941 inflammatory bowel disease 25 semapv:ManualMappingCuration +NANDO:2200449 NLRP12-associated periodic syndrome skos:closeMatch MONDO:0012724 familial cold autoinflammatory syndrome 2 semapv:ManualMappingCuration +NANDO:2200449 NLRP12-associated periodic syndrome skos:closeMatch MONDO:0018768 familial cold autoinflammatory syndrome semapv:ManualMappingCuration +NANDO:2200451 PLCg2 deficiency skos:closeMatch MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation semapv:ManualMappingCuration +NANDO:2200452 IL36RN deficiency skos:closeMatch MONDO:0013626 psoriasis 14, pustular semapv:ManualMappingCuration +NANDO:2200453 Majeed syndrome skos:closeMatch MONDO:0012316 Majeed syndrome semapv:ManualMappingCuration +NANDO:2200454 NLRP12-associated periodic syndrome skos:closeMatch MONDO:0012724 familial cold autoinflammatory syndrome 2 semapv:ManualMappingCuration +NANDO:2200454 NLRP12-associated periodic syndrome skos:closeMatch MONDO:0018768 familial cold autoinflammatory syndrome semapv:ManualMappingCuration +NANDO:2200455 PLCG2-associated antibody deficiency and immune dysregulation skos:closeMatch MONDO:0013766 familial cold autoinflammatory syndrome 3 semapv:ManualMappingCuration +NANDO:2200456 RBCK1 deficiency skos:closeMatch MONDO:0018348 obsolete polyglucosan body myopathy type 1 semapv:ManualMappingCuration +NANDO:2200457 SLC29A3 deficiency skos:closeMatch MONDO:0011273 H syndrome semapv:ManualMappingCuration +NANDO:2200458 A20 haploinsufficiency skos:closeMatch MONDO:0100222 A20 haploinsufficiency semapv:ManualMappingCuration +NANDO:2200460 Diabetes mellitus type 1 skos:closeMatch MONDO:0005147 type 1 diabetes mellitus semapv:ManualMappingCuration +NANDO:2200461 Diabetes mellitus type 2 skos:closeMatch MONDO:0005148 type 2 diabetes mellitus semapv:ManualMappingCuration +NANDO:2200461 Diabetes mellitus type 2 skos:closeMatch MONDO:0007452 maturity-onset diabetes of the young type 1 semapv:ManualMappingCuration +NANDO:2200462 Maturity-onset diabetes of the young skos:closeMatch MONDO:0018911 maturity-onset diabetes of the young semapv:ManualMappingCuration +NANDO:2200463 Neonatal diabetes mellitus skos:closeMatch MONDO:0016391 neonatal diabetes mellitus semapv:ManualMappingCuration +NANDO:2200465 Lipoatrophic diabetes skos:closeMatch MONDO:0005827 lipoatrophic diabetes semapv:ManualMappingCuration +NANDO:2200465 Lipoatrophic diabetes skos:closeMatch MONDO:0018883 Berardinelli-Seip congenital lipodystrophy semapv:ManualMappingCuration +NANDO:2200467 Phenylketonuria skos:closeMatch MONDO:0009861 phenylketonuria semapv:ManualMappingCuration +NANDO:2200468 Tyrosinemia type 1 skos:closeMatch MONDO:0010161 tyrosinemia type I semapv:ManualMappingCuration +NANDO:2200469 Tyrosinemia type 2 skos:closeMatch MONDO:0010160 tyrosinemia type II semapv:ManualMappingCuration +NANDO:2200470 Tyrosinemia type 3 skos:closeMatch MONDO:0010162 tyrosinemia type III semapv:ManualMappingCuration +NANDO:2200471 Hyperprolinemia skos:closeMatch MONDO:0023419 hyperprolinemia semapv:ManualMappingCuration +NANDO:2200472 Prolidase deficiency skos:closeMatch MONDO:0008221 prolidase deficiency semapv:ManualMappingCuration +NANDO:2200473 Maple syrup urine disease skos:closeMatch MONDO:0009563 maple syrup urine disease semapv:ManualMappingCuration +NANDO:2200474 Homocystinuria skos:closeMatch MONDO:0004737 homocystinuria semapv:ManualMappingCuration +NANDO:2200475 Hypermethioninemia skos:closeMatch MONDO:0000351 disorder of methionine catabolism semapv:ManualMappingCuration +NANDO:2200476 Nonketotic hyperglycinemia skos:closeMatch MONDO:0011612 glycine encephalopathy semapv:ManualMappingCuration +NANDO:2200477 N-acetylglutamate synthetase deficiency skos:closeMatch MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency semapv:ManualMappingCuration +NANDO:2200478 Carbamoylphosphate synthetase deficiency skos:closeMatch MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease semapv:ManualMappingCuration +NANDO:2200479 Ornithine transcarbamylase deficiency skos:closeMatch MONDO:0010703 ornithine carbamoyltransferase deficiency semapv:ManualMappingCuration +NANDO:2200480 Argininosuccinate synthetase deficiency skos:closeMatch MONDO:0008988 citrullinemia type I semapv:ManualMappingCuration +NANDO:2200481 Argininosuccinic aciduria skos:closeMatch MONDO:0008815 argininosuccinic aciduria semapv:ManualMappingCuration +NANDO:2200482 Hyperargininemia skos:closeMatch MONDO:0008814 hyperargininemia semapv:ManualMappingCuration +NANDO:2200483 Citrin deficiency skos:closeMatch MONDO:0016602 citrin deficiency semapv:ManualMappingCuration +NANDO:2200484 Hyperornithinemia skos:closeMatch MONDO:0009796 ornithine aminotransferase deficiency semapv:ManualMappingCuration +NANDO:2200485 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome skos:closeMatch MONDO:0009393 ornithine translocase deficiency semapv:ManualMappingCuration +NANDO:2200486 Gyrate atrophy of choroid and retina skos:closeMatch MONDO:0009796 ornithine aminotransferase deficiency semapv:ManualMappingCuration +NANDO:2200487 Hartnup disease skos:closeMatch MONDO:0009324 Hartnup disease semapv:ManualMappingCuration +NANDO:2200488 Lysinuric protein intolerance skos:closeMatch MONDO:0009109 lysinuric protein intolerance semapv:ManualMappingCuration +NANDO:2200489 Cystinuria skos:closeMatch MONDO:0009067 cystinuria semapv:ManualMappingCuration +NANDO:2200491 Methylmalonic acidemia skos:closeMatch MONDO:0002012 methylmalonic acidemia semapv:ManualMappingCuration +NANDO:2200492 Propionic acidemia skos:closeMatch MONDO:0011628 propionic acidemia semapv:ManualMappingCuration +NANDO:2200493 Beta-ketothiolase deficiency skos:closeMatch MONDO:0008760 beta-ketothiolase deficiency semapv:ManualMappingCuration +NANDO:2200494 Isovaleric acidemia skos:closeMatch MONDO:0009475 isovaleric acidemia semapv:ManualMappingCuration +NANDO:2200495 3-methylcrotonyl-CoA carboxylase deficiency skos:closeMatch MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency semapv:ManualMappingCuration +NANDO:2200496 Methylglutaconic aciduria skos:closeMatch MONDO:0017359 3-methylglutaconic aciduria semapv:ManualMappingCuration +NANDO:2200497 3-hydroxy-3-methylglutaric acidemia skos:closeMatch MONDO:0009520 3-hydroxy-3-methylglutaric aciduria semapv:ManualMappingCuration +NANDO:2200498 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:closeMatch MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency semapv:ManualMappingCuration +NANDO:2200499 Succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency semapv:ManualMappingCuration +NANDO:2200500 Multiple carboxylase deficiency skos:closeMatch MONDO:0015454 multiple carboxylase deficiency semapv:ManualMappingCuration +NANDO:2200501 Glutaric acidemia type 1 skos:closeMatch MONDO:0009281 glutaryl-CoA dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:2200502 Glutaric acidemia type 2 skos:closeMatch MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:2200503 Primary hyperoxaluria skos:closeMatch MONDO:0002474 primary hyperoxaluria semapv:ManualMappingCuration +NANDO:2200504 Alkaptonuria skos:closeMatch MONDO:0008753 alkaptonuria semapv:ManualMappingCuration +NANDO:2200505 Glycerol kinase deficiency skos:closeMatch MONDO:0010613 inborn glycerol kinase deficiency semapv:ManualMappingCuration +NANDO:2200506 Inborn errors of bile acid metabolism skos:closeMatch MONDO:0019218 inborn disorder of bile acid synthesis semapv:ManualMappingCuration +NANDO:2200508 Organic cation transporter 2 deficiency skos:closeMatch MONDO:0008919 systemic primary carnitine deficiency disease semapv:ManualMappingCuration +NANDO:2200509 Carnitine palmitoyltransferase I deficiency skos:closeMatch MONDO:0009705 carnitine palmitoyl transferase 1A deficiency semapv:ManualMappingCuration +NANDO:2200510 Carnitine palmitoyltransferase II deficiency skos:closeMatch MONDO:0015515 carnitine palmitoyltransferase II deficiency semapv:ManualMappingCuration +NANDO:2200511 Carnitine-acylcarnitine translocase deficiency skos:closeMatch MONDO:0008918 carnitine-acylcarnitine translocase deficiency semapv:ManualMappingCuration +NANDO:2200512 Very-long-chain acyl-CoA dehydrogenase deficiency skos:closeMatch MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:2200513 Medium-chain acyl-CoA dehydrogenase deficiency skos:closeMatch MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:2200514 Short-chain acyl-CoA dehydrogenase deficiency skos:closeMatch MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:2200515 Trifunctional protein deficiency skos:closeMatch MONDO:0012172 mitochondrial trifunctional protein deficiency semapv:ManualMappingCuration +NANDO:2200516 3-hydroxy acyl-CoA dehydrogenase deficiency skos:closeMatch MONDO:0009278 obsolete hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:2200518 Pyruvate dehydrogenase complex deficiency skos:closeMatch MONDO:0019169 pyruvate dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:2200519 Pyruvate carboxylase deficiency skos:closeMatch MONDO:0009949 pyruvate carboxylase deficiency disease semapv:ManualMappingCuration +NANDO:2200520 Fumarase deficiency skos:closeMatch MONDO:0011730 fumaric aciduria semapv:ManualMappingCuration +NANDO:2200522 Mitochondrial respiratory chain disorders skos:closeMatch MONDO:0017718 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes semapv:ManualMappingCuration +NANDO:2200523 Mitochondrial DNA depletion syndrome skos:closeMatch MONDO:0018158 mitochondrial DNA depletion syndrome semapv:ManualMappingCuration +NANDO:2200524 Diseases due to mitochondrial DNA mutation skos:closeMatch MONDO:0016793 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA semapv:ManualMappingCuration +NANDO:2200525 Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) skos:closeMatch MONDO:0010789 MELAS syndrome semapv:ManualMappingCuration +NANDO:2200526 Myoclonus epilepsy associated with ragged-red fibers skos:closeMatch MONDO:0010790 MERRF syndrome semapv:ManualMappingCuration +NANDO:2200527 Leigh syndrome skos:closeMatch MONDO:0009723 Leigh syndrome semapv:ManualMappingCuration +NANDO:2200528 Diseases due to mitochondrial DNA deletion skos:closeMatch MONDO:0018158 mitochondrial DNA depletion syndrome semapv:ManualMappingCuration +NANDO:2200529 Kearns-Sayre syndrome skos:closeMatch MONDO:0010787 Kearns-Sayre syndrome semapv:ManualMappingCuration +NANDO:2200531 Hereditary fructose intolerance skos:closeMatch MONDO:0009249 hereditary fructose intolerance semapv:ManualMappingCuration +NANDO:2200532 Galactose-1-phosphate uridyltransferase deficiency skos:closeMatch MONDO:0009258 classic galactosemia semapv:ManualMappingCuration +NANDO:2200533 Galactokinase deficiency skos:closeMatch MONDO:0009255 galactokinase deficiency semapv:ManualMappingCuration +NANDO:2200534 UDP-galactose-4-epimerase deficiency skos:closeMatch MONDO:0009257 galactose epimerase deficiency semapv:ManualMappingCuration +NANDO:2200535 Fructose-1,6-bisphosphatase deficiency skos:closeMatch MONDO:0009251 fructose-1,6-bisphosphatase deficiency semapv:ManualMappingCuration +NANDO:2200536 Phosphoenolpyruvate carboxykinase deficiency skos:closeMatch MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency semapv:ManualMappingCuration +NANDO:2200537 Glycogen synthase deficiency skos:closeMatch MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency semapv:ManualMappingCuration +NANDO:2200538 Glycogen storage disease type I skos:closeMatch MONDO:0002413 glycogen storage disease I semapv:ManualMappingCuration +NANDO:2200539 Glycogen storage disease type III skos:closeMatch MONDO:0009291 glycogen storage disease III semapv:ManualMappingCuration +NANDO:2200540 Glycogen storage disease type IV skos:closeMatch MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency semapv:ManualMappingCuration +NANDO:2200541 Glycogen storage disease type V skos:closeMatch MONDO:0009293 glycogen storage disease V semapv:ManualMappingCuration +NANDO:2200542 Glycogen storage disease type VI skos:closeMatch MONDO:0009294 glycogen storage disease VI semapv:ManualMappingCuration +NANDO:2200543 Glycogen storage disease type VII skos:closeMatch MONDO:0009295 glycogen storage disease VII semapv:ManualMappingCuration +NANDO:2200544 Glycogen storage disease type IX skos:closeMatch MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency semapv:ManualMappingCuration +NANDO:2200545 Glucose transporter 1 deficiency skos:closeMatch MONDO:0011724 encephalopathy due to GLUT1 deficiency semapv:ManualMappingCuration +NANDO:2200547 Mucopolysaccharidosis type I skos:closeMatch MONDO:0001586 mucopolysaccharidosis type 1 semapv:ManualMappingCuration +NANDO:2200548 Mucopolysaccharidosis type II skos:closeMatch MONDO:0010674 mucopolysaccharidosis type 2 semapv:ManualMappingCuration +NANDO:2200549 Mucopolysaccharidosis type III skos:closeMatch MONDO:0018937 mucopolysaccharidosis type 3 semapv:ManualMappingCuration +NANDO:2200550 Mucopolysaccharidosis type IV skos:closeMatch MONDO:0018938 mucopolysaccharidosis type 4 semapv:ManualMappingCuration +NANDO:2200551 Mucopolysaccharidosis type VI skos:closeMatch MONDO:0009661 mucopolysaccharidosis type 6 semapv:ManualMappingCuration +NANDO:2200552 Mucopolysaccharidosis type VII skos:closeMatch MONDO:0009662 mucopolysaccharidosis type 7 semapv:ManualMappingCuration +NANDO:2200553 Fucosidosis skos:closeMatch MONDO:0009254 fucosidosis semapv:ManualMappingCuration +NANDO:2200555 Aspartylglucosaminuria skos:closeMatch MONDO:0008830 aspartylglucosaminuria semapv:ManualMappingCuration +NANDO:2200556 Sialidosis skos:closeMatch MONDO:0017734 sialidosis semapv:ManualMappingCuration +NANDO:2200557 Galactosialidosis skos:closeMatch MONDO:0009737 galactosialidosis semapv:ManualMappingCuration +NANDO:2200558 GM1 Gangliosidosis skos:closeMatch MONDO:0018149 GM1 gangliosidosis semapv:ManualMappingCuration +NANDO:2200559 GM2 gangliosidosis skos:closeMatch MONDO:0017720 GM2 gangliosidosis semapv:ManualMappingCuration +NANDO:2200560 Metachromatic leukodystrophy skos:closeMatch MONDO:0018868 metachromatic leukodystrophy semapv:ManualMappingCuration +NANDO:2200561 Niemann-Pick disease skos:closeMatch MONDO:0001982 Niemann-Pick disease semapv:ManualMappingCuration +NANDO:2200562 Gaucher disease skos:closeMatch MONDO:0018150 Gaucher disease semapv:ManualMappingCuration +NANDO:2200563 Fabry disease skos:closeMatch MONDO:0010526 Fabry disease semapv:ManualMappingCuration +NANDO:2200564 Krabbe disease skos:closeMatch MONDO:0009499 Krabbe disease semapv:ManualMappingCuration +NANDO:2200565 Farber disease skos:closeMatch MONDO:0009218 Farber lipogranulomatosis semapv:ManualMappingCuration +NANDO:2200566 Multiple sulfatase deficiency skos:closeMatch MONDO:0010088 mucosulfatidosis semapv:ManualMappingCuration +NANDO:2200567 Mucolipidosis II skos:closeMatch MONDO:0009650 mucolipidosis type II semapv:ManualMappingCuration +NANDO:2200568 Mucolipidosis III skos:closeMatch MONDO:0018931 mucolipidosis type III, alpha/beta semapv:ManualMappingCuration +NANDO:2200569 Pompe disease skos:closeMatch MONDO:0009290 glycogen storage disease II semapv:ManualMappingCuration +NANDO:2200570 Acid lipase deficiency skos:closeMatch MONDO:0019148 Wolman disease semapv:ManualMappingCuration +NANDO:2200571 Cystinosis skos:closeMatch MONDO:0016239 cystinosis semapv:ManualMappingCuration +NANDO:2200572 Free Sialic Acid Storage Disease skos:closeMatch MONDO:0019366 free sialic acid storage disease semapv:ManualMappingCuration +NANDO:2200573 Neuronal ceroid lipofuscinoses skos:closeMatch MONDO:0016295 neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:2200575 Peroxisome biogenesis disorders skos:closeMatch MONDO:0019234 peroxisome biogenesis disorder semapv:ManualMappingCuration +NANDO:2200576 Adrenoleukodystrophy skos:closeMatch MONDO:0018544 adrenoleukodystrophy semapv:ManualMappingCuration +NANDO:2200577 Refsum disease skos:closeMatch MONDO:0009958 adult Refsum disease semapv:ManualMappingCuration +NANDO:2200579 Wilson disease skos:closeMatch MONDO:0010200 Wilson disease semapv:ManualMappingCuration +NANDO:2200580 Menkes disease skos:closeMatch MONDO:0010651 Menkes disease semapv:ManualMappingCuration +NANDO:2200581 Occipital horn syndrome skos:closeMatch MONDO:0010572 occipital horn syndrome semapv:ManualMappingCuration +NANDO:2200582 Aceruloplasminemia skos:closeMatch MONDO:0011426 aceruloplasminemia semapv:ManualMappingCuration +NANDO:2200583 Sulfite oxidase deficiency skos:closeMatch MONDO:0010089 isolated sulfite oxidase deficiency semapv:ManualMappingCuration +NANDO:2200584 Acrodermatitis enteropathica skos:closeMatch MONDO:0008713 acrodermatitis enteropathica semapv:ManualMappingCuration +NANDO:2200586 Lesch-Nyhan syndrome skos:closeMatch MONDO:0010298 Lesch-Nyhan syndrome semapv:ManualMappingCuration +NANDO:2200586 Lesch-Nyhan syndrome skos:closeMatch MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency semapv:ManualMappingCuration +NANDO:2200587 Adenine phosphoribosyltransferase deficiency skos:closeMatch MONDO:0013869 adenine phosphoribosyltransferase deficiency semapv:ManualMappingCuration +NANDO:2200588 Xanthinuria skos:closeMatch MONDO:0000721 xanthinuria semapv:ManualMappingCuration +NANDO:2200590 Orotic aciduria skos:closeMatch MONDO:0009797 orotic aciduria semapv:ManualMappingCuration +NANDO:2200592 Hereditary folate malabsorption skos:closeMatch MONDO:0009238 hereditary folate malabsorption semapv:ManualMappingCuration +NANDO:2200594 Tetrahydrobiopterin deficiency skos:closeMatch MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:ManualMappingCuration +NANDO:2200595 Tyrosine hydroxylase deficiency skos:closeMatch MONDO:0100064 tyrosine hydroxylase deficiency semapv:ManualMappingCuration +NANDO:2200596 Aromatic L-amino acid decarboxylase deficiency skos:closeMatch MONDO:0012084 aromatic L-amino acid decarboxylase deficiency semapv:ManualMappingCuration +NANDO:2200597 Dopamine beta hydroxylase deficiency skos:closeMatch MONDO:0009123 orthostatic hypotension 1 semapv:ManualMappingCuration +NANDO:2200598 Gamma-amino butyrate aminotransferase deficiency skos:closeMatch MONDO:0013166 GABA aminotransaminase deficiency semapv:ManualMappingCuration +NANDO:2200599 Succinic semialdehyde dehydrogenase deficiency skos:closeMatch MONDO:0010083 succinic semialdehyde dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:2200602 Familial hypercholesterolemia skos:closeMatch MONDO:0005439 familial hypercholesterolemia semapv:ManualMappingCuration +NANDO:2200602 Familial hypercholesterolemia skos:closeMatch MONDO:0007750 hypercholesterolemia, familial, 1 semapv:ManualMappingCuration +NANDO:2200602 Familial hypercholesterolemia skos:closeMatch MONDO:0016525 familial hyperaldosteronism semapv:ManualMappingCuration +NANDO:2200604 Abetalipoproteinemia skos:closeMatch MONDO:0008692 abetalipoproteinemia semapv:ManualMappingCuration +NANDO:2200605 HDL deficiency skos:closeMatch MONDO:0017773 hypoalphalipoproteinemia semapv:ManualMappingCuration +NANDO:2200607 Ehlers-Danlos syndrome skos:closeMatch MONDO:0020066 Ehlers-Danlos syndrome semapv:ManualMappingCuration +NANDO:2200608 Lipoid proteinosis skos:closeMatch MONDO:0009530 lipoid proteinosis semapv:ManualMappingCuration +NANDO:2200611 Alpha-1-antitrypsin deficiency skos:closeMatch MONDO:0013282 alpha 1-antitrypsin deficiency semapv:ManualMappingCuration +NANDO:2200612 Megaloblastic anemia skos:closeMatch MONDO:0001700 megaloblastic anemia semapv:ManualMappingCuration +NANDO:2200614 Congenital red cell aplasia skos:closeMatch MONDO:0015253 Diamond-Blackfan anemia semapv:ManualMappingCuration +NANDO:2200615 Congenital dyserythropoietic anemia skos:closeMatch MONDO:0019403 congenital dyserythropoietic anemia semapv:ManualMappingCuration +NANDO:2200616 Sideroblastic anemia skos:closeMatch MONDO:0015194 sideroblastic anemia semapv:ManualMappingCuration +NANDO:2200617 Congenital atransferrinemia skos:closeMatch MONDO:0008846 atransferrinemia semapv:ManualMappingCuration +NANDO:2200618 Cold agglutinin disease skos:closeMatch MONDO:0018922 cold agglutinin disease semapv:ManualMappingCuration +NANDO:2200619 Paroxysmal cold hemoglobinuria skos:closeMatch MONDO:0019533 paroxysmal cold hemoglobinuria semapv:ManualMappingCuration +NANDO:2200621 Paroxysmal nocturnal hemoglobinuria skos:closeMatch MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria semapv:ManualMappingCuration +NANDO:2200622 Hereditary spherocytosis skos:closeMatch MONDO:0019350 hereditary spherocytosis semapv:ManualMappingCuration +NANDO:2200623 Hereditary stomatocytosis skos:closeMatch MONDO:0020102 hereditary stomatocytosis semapv:ManualMappingCuration +NANDO:2200624 Sickle cell disease skos:closeMatch MONDO:0011382 sickle cell anemia semapv:ManualMappingCuration +NANDO:2200625 Unstable hemoglobin disease skos:closeMatch MONDO:0020459 unstable hemoglobin disease semapv:ManualMappingCuration +NANDO:2200626 Thalassemia skos:closeMatch MONDO:0000984 thalassemia semapv:ManualMappingCuration +NANDO:2200627 Glucose-6-phosphate dehydrogenase deficiency skos:closeMatch MONDO:0005775 G6PD deficiency semapv:ManualMappingCuration +NANDO:2200628 Hemolytic anemia due to red cell pyruvate kinase deficiency skos:closeMatch MONDO:0009950 pyruvate kinase deficiency of red cells semapv:ManualMappingCuration +NANDO:2200630 Hereditary elliptocytosis skos:closeMatch MONDO:0017319 hereditary elliptocytosis semapv:ManualMappingCuration +NANDO:2200631 Hereditary pyropoikilocytosis skos:closeMatch MONDO:0009948 pyropoikilocytosis, hereditary semapv:ManualMappingCuration +NANDO:2200633 Stomatocytic xerocytosis skos:closeMatch MONDO:0017910 dehydrated hereditary stomatocytosis semapv:ManualMappingCuration +NANDO:2200634 Xerocytosis with high phosphatidylcholine hemolytic anemia skos:closeMatch MONDO:0008367 red cell phospholipid defect with hemolysis semapv:ManualMappingCuration +NANDO:2200635 Hemoglobin C disease skos:closeMatch MONDO:0016242 hemoglobin C disease semapv:ManualMappingCuration +NANDO:2200636 Hemolytic anemia skos:closeMatch MONDO:0003664 hemolytic anemia semapv:ManualMappingCuration +NANDO:2200637 Hypersplenism skos:closeMatch MONDO:0006795 hypersplenism semapv:ManualMappingCuration +NANDO:2200639 Disseminated intravascular coagulation skos:closeMatch MONDO:0001243 disseminated intravascular coagulation semapv:ManualMappingCuration +NANDO:2200640 Shiga toxin-producing escherichia coli hemolytic uremic syndrome skos:closeMatch MONDO:0019536 Shiga toxin-associated hemolytic uremic syndrome semapv:ManualMappingCuration +NANDO:2200641 Atypical hemolytic uremic syndrome skos:closeMatch MONDO:0016244 atypical hemolytic-uremic syndrome semapv:ManualMappingCuration +NANDO:2200643 Polycythemia vera skos:closeMatch MONDO:0009891 acquired polycythemia vera semapv:ManualMappingCuration +NANDO:2200644 Familial polycythemia skos:closeMatch MONDO:0001115 familial polycythemia semapv:ManualMappingCuration +NANDO:2200645 Immune thrombocytopenic purpura skos:closeMatch MONDO:0008558 autoimmune thrombocytopenic purpura semapv:ManualMappingCuration +NANDO:2200647 Neonatal alloimmune thrombocytopenia skos:closeMatch MONDO:0019415 fetal and neonatal alloimmune thrombocytopenia semapv:ManualMappingCuration +NANDO:2200648 Heparin-induced thrombocytopenia skos:closeMatch MONDO:0018048 heparin-induced thrombocytopenia semapv:ManualMappingCuration +NANDO:2200649 Thrombotic thrombocytopenic purpura skos:closeMatch MONDO:0018896 thrombotic thrombocytopenic purpura semapv:ManualMappingCuration +NANDO:2200651 Congenital amegakaryocytic thrombocytopenia skos:closeMatch MONDO:0011469 congenital amegakaryocytic thrombocytopenia semapv:ManualMappingCuration +NANDO:2200652 Fanconi anemia skos:closeMatch MONDO:0019391 Fanconi anemia semapv:ManualMappingCuration +NANDO:2200653 Cyclic thrombocytopenia skos:closeMatch MONDO:0008556 thrombocytopenia, cyclic semapv:ManualMappingCuration +NANDO:2200654 May-Hegglin anomaly skos:closeMatch MONDO:0007954 obsolete May-Hegglin anomaly semapv:ManualMappingCuration +NANDO:2200655 Essential thrombocythemia skos:closeMatch MONDO:0005029 essential thrombocythemia semapv:ManualMappingCuration +NANDO:2200656 Bernard-Soulier syndrome skos:closeMatch MONDO:0009276 Bernard-Soulier syndrome semapv:ManualMappingCuration +NANDO:2200657 Thrombasthenia skos:closeMatch MONDO:0010119 obsolete Glanzmann's thrombasthenia semapv:ManualMappingCuration +NANDO:2200660 Congenital thrombocytopenia with radio-ulnar synostosis skos:closeMatch MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome semapv:ManualMappingCuration +NANDO:2200661 Thrombocytopenia with absent radii skos:closeMatch MONDO:0010121 thrombocytopenia-absent radius syndrome semapv:ManualMappingCuration +NANDO:2200662 Familial platelet disorder with propensity to myeloid. skos:closeMatch MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 semapv:ManualMappingCuration +NANDO:2200663 Autosomal dominant thrombocytopenia 2 skos:closeMatch MONDO:0008555 thrombocytopenia 2 semapv:ManualMappingCuration +NANDO:2200664 ITGA2B/ITGB3 mutations skos:closeMatch MONDO:0010119 obsolete Glanzmann's thrombasthenia semapv:ManualMappingCuration +NANDO:2200665 ACTN1 mutations skos:closeMatch MONDO:0014078 platelet-type bleeding disorder 15 semapv:ManualMappingCuration +NANDO:2200667 β-1 tubulin disorders skos:closeMatch MONDO:0013141 obsolete autosomal dominant macrothrombocytopenia TUBB1-related semapv:ManualMappingCuration +NANDO:2200668 Platelet-type von Willebrand disease skos:closeMatch MONDO:0008332 platelet-type von Willebrand disease semapv:ManualMappingCuration +NANDO:2200669 ADP receptor deficiencies skos:closeMatch MONDO:0012354 platelet-type bleeding disorder 8 semapv:ManualMappingCuration +NANDO:2200670 Abnormalities in platelet collagen receptors skos:closeMatch MONDO:0013623 platelet-type bleeding disorder 11 semapv:ManualMappingCuration +NANDO:2200671 Scott syndrome skos:closeMatch MONDO:0009885 Scott syndrome semapv:ManualMappingCuration +NANDO:2200674 Factor V deficiency skos:closeMatch MONDO:0020586 factor V deficiency semapv:ManualMappingCuration +NANDO:2200675 Factor VII deficiency skos:closeMatch MONDO:0002244 factor VII deficiency semapv:ManualMappingCuration +NANDO:2200676 Hemophilia A skos:closeMatch MONDO:0010602 hemophilia A semapv:ManualMappingCuration +NANDO:2200677 Hemophilia B skos:closeMatch MONDO:0010604 hemophilia B semapv:ManualMappingCuration +NANDO:2200678 Factor X deficiency skos:closeMatch MONDO:0002247 factor X deficiency semapv:ManualMappingCuration +NANDO:2200679 Factor XI deficiency skos:closeMatch MONDO:0020587 factor XI deficiency semapv:ManualMappingCuration +NANDO:2200680 Factor XII deficiency skos:closeMatch MONDO:0009315 congenital factor XII deficiency semapv:ManualMappingCuration +NANDO:2200681 Factor XIII deficiency skos:closeMatch MONDO:0002241 factor XIII deficiency semapv:ManualMappingCuration +NANDO:2200681 Factor XIII deficiency skos:closeMatch MONDO:0018029 congenital factor XIII deficiency semapv:ManualMappingCuration +NANDO:2200682 Von Willebrand disease skos:closeMatch MONDO:0024574 von Willebrand disease (hereditary or acquired) semapv:ManualMappingCuration +NANDO:2200684 Congenital prekallikrein deficiency skos:closeMatch MONDO:0012901 inherited prekallikrein deficiency semapv:ManualMappingCuration +NANDO:2200684 Congenital prekallikrein deficiency skos:closeMatch MONDO:0044744 prekallikrein deficiency semapv:ManualMappingCuration +NANDO:2200685 High molecular weight kininogen deficiency skos:closeMatch MONDO:0009234 congenital high-molecular-weight kininogen deficiency semapv:ManualMappingCuration +NANDO:2200686 Combined deficiency of coagulation factors V and VIII skos:closeMatch MONDO:0018175 combined deficiency of factor V and factor VIII semapv:ManualMappingCuration +NANDO:2200687 Alpha-2-plasmin inhibitor deficiency skos:closeMatch MONDO:0009883 alpha-2-plasmin inhibitor deficiency semapv:ManualMappingCuration +NANDO:2200688 Congenital plasminogen activator inhibitor-1 deficiency skos:closeMatch MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency semapv:ManualMappingCuration +NANDO:2200689 Protein C deficiency skos:closeMatch MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency semapv:ManualMappingCuration +NANDO:2200690 Protein S deficiency skos:closeMatch MONDO:0002304 protein S deficiency semapv:ManualMappingCuration +NANDO:2200692 Myelofibrosis skos:closeMatch MONDO:0044903 myelofibrosis semapv:ManualMappingCuration +NANDO:2200693 Aplastic anemia skos:closeMatch MONDO:0015909 aplastic anemia semapv:ManualMappingCuration +NANDO:2200694 X-linked severe combined immunodeficiency skos:closeMatch MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency semapv:ManualMappingCuration +NANDO:2200695 Reticular dysgenesis skos:closeMatch MONDO:0009973 reticular dysgenesis semapv:ManualMappingCuration +NANDO:2200696 Adenosine deaminase deficiency skos:closeMatch MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency semapv:ManualMappingCuration +NANDO:2200697 Omenn syndrome skos:closeMatch MONDO:0011338 Omenn syndrome semapv:ManualMappingCuration +NANDO:2200698 Purine nucleoside phosphorylase deficiency skos:closeMatch MONDO:0013171 purine nucleoside phosphorylase deficiency semapv:ManualMappingCuration +NANDO:2200699 CD8 deficiency skos:closeMatch MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation semapv:ManualMappingCuration +NANDO:2200701 MHC class I deficiency skos:closeMatch MONDO:0011476 MHC class I deficiency semapv:ManualMappingCuration +NANDO:2200702 MHC class II deficiency skos:closeMatch MONDO:0008855 MHC class II deficiency semapv:ManualMappingCuration +NANDO:2200704 Wiskott-Aldrich syndrome skos:closeMatch MONDO:0010518 Wiskott-Aldrich syndrome semapv:ManualMappingCuration +NANDO:2200705 Ataxia telangiectasia skos:closeMatch MONDO:0008840 ataxia telangiectasia semapv:ManualMappingCuration +NANDO:2200706 Nijmegen breakage syndrome skos:closeMatch MONDO:0009623 Nijmegen breakage syndrome semapv:ManualMappingCuration +NANDO:2200707 Bloom syndrome skos:closeMatch MONDO:0008876 Bloom syndrome semapv:ManualMappingCuration +NANDO:2200708 ICF syndrome skos:closeMatch MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome semapv:ManualMappingCuration +NANDO:2200710 RIDDLE syndrome skos:closeMatch MONDO:0012764 RIDDLE syndrome semapv:ManualMappingCuration +NANDO:2200711 Schimke syndrome skos:closeMatch MONDO:0009458 Schimke immuno-osseous dysplasia semapv:ManualMappingCuration +NANDO:2200712 Thymus hypoplasia skos:closeMatch MONDO:0008564 DiGeorge syndrome semapv:ManualMappingCuration +NANDO:2200712 Thymus hypoplasia skos:closeMatch MONDO:0008644 velocardiofacial syndrome semapv:ManualMappingCuration +NANDO:2200712 Thymus hypoplasia skos:closeMatch MONDO:0018923 22q11.2 deletion syndrome semapv:ManualMappingCuration +NANDO:2200713 Hyper-IgE syndrome skos:closeMatch MONDO:0018037 hyper-IgE syndrome semapv:ManualMappingCuration +NANDO:2200714 Hepatic veno-occlusive disease with immunodeficiency skos:closeMatch MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome semapv:ManualMappingCuration +NANDO:2200715 Dyskeratosis congenita skos:closeMatch MONDO:0015780 dyskeratosis congenita semapv:ManualMappingCuration +NANDO:2200716 X-linked agammaglobulinemia skos:closeMatch MONDO:0010421 Bruton-type agammaglobulinemia semapv:ManualMappingCuration +NANDO:2200717 Common variable immunodeficiency skos:closeMatch MONDO:0015517 common variable immunodeficiency semapv:ManualMappingCuration +NANDO:2200718 Hyper-IgM syndrome skos:closeMatch MONDO:0003947 hyper-IgM syndrome semapv:ManualMappingCuration +NANDO:2200719 Isolated IgG subclass deficiency skos:closeMatch MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency semapv:ManualMappingCuration +NANDO:2200720 Selective IgA deficiency skos:closeMatch MONDO:0001341 selective IgA deficiency disease semapv:ManualMappingCuration +NANDO:2200721 Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells skos:closeMatch MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells semapv:ManualMappingCuration +NANDO:2200722 Transient hypogammaglobulinemia of infancy with normal numbers of B cells skos:closeMatch MONDO:0015698 transient hypogammaglobulinemia of infancy semapv:ManualMappingCuration +NANDO:2200724 Chédiak-Higashi syndrome skos:closeMatch MONDO:0008963 Chediak-Higashi syndrome semapv:ManualMappingCuration +NANDO:2200725 X-linked lymphoproliferative syndrome skos:closeMatch MONDO:0010627 X-linked lymphoproliferative syndrome semapv:ManualMappingCuration +NANDO:2200726 Autoimmune lymphoproliferative syndrome skos:closeMatch MONDO:0017979 autoimmune lymphoproliferative syndrome semapv:ManualMappingCuration +NANDO:2200728 Perforin deficiency skos:closeMatch MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 semapv:ManualMappingCuration +NANDO:2200729 UNC13D/Munc13-4 deficiency skos:closeMatch MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 semapv:ManualMappingCuration +NANDO:2200730 Syntaxin 11 deficiency skos:closeMatch MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 semapv:ManualMappingCuration +NANDO:2200731 STXBP2/Munc18-2 deficiency skos:closeMatch MONDO:0013135 familial hemophagocytic lymphohistiocytosis 5 semapv:ManualMappingCuration +NANDO:2200732 Griscelli syndrome type 2 skos:closeMatch MONDO:0011872 Griscelli syndrome type 2 semapv:ManualMappingCuration +NANDO:2200733 Hermansky-Pudlak syndrome type 2 skos:closeMatch MONDO:0011997 Hermansky-Pudlak syndrome 2 semapv:ManualMappingCuration +NANDO:2200734 IL-2-inducible T-cell kinase deficiency skos:closeMatch MONDO:0013081 lymphoproliferative syndrome 1 semapv:ManualMappingCuration +NANDO:2200735 CD27 deficiency skos:closeMatch MONDO:0016536 autosomal recessive lymphoproliferative disease semapv:ManualMappingCuration +NANDO:2200736 Immunodeficiency 41 with lymphoproliferation and autoimmunity skos:closeMatch MONDO:0011664 immunodeficiency due to CD25 deficiency semapv:ManualMappingCuration +NANDO:2200738 Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy skos:closeMatch MONDO:0009411 autoimmune polyendocrine syndrome type 1 semapv:ManualMappingCuration +NANDO:2200739 Syndromic multisystem autoimmune disease due to Itch deficiency skos:closeMatch MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency semapv:ManualMappingCuration +NANDO:2200740 Caspase-8 deficiency skos:closeMatch MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B semapv:ManualMappingCuration +NANDO:2200741 Fas-associated death domain protein deficiency skos:closeMatch MONDO:0013408 FADD-related immunodeficiency semapv:ManualMappingCuration +NANDO:2200743 PKC-δ deficiency skos:closeMatch MONDO:0014253 obsolete autoimmune lymphoproliferative syndrome type 3 semapv:ManualMappingCuration +NANDO:2200744 Spondylo enchondro-dysplasiawith immune dysregulation skos:closeMatch MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation semapv:ManualMappingCuration +NANDO:2200745 Severe congenital neutropenia skos:closeMatch MONDO:0018542 severe congenital neutropenia semapv:ManualMappingCuration +NANDO:2200746 Cyclic neutropenia skos:closeMatch MONDO:0008090 cyclic hematopoiesis semapv:ManualMappingCuration +NANDO:2200749 Clericuzio-type poikiloderma with neutropenia syndrome skos:closeMatch MONDO:0011405 poikiloderma with neutropenia semapv:ManualMappingCuration +NANDO:2200750 Cohen syndrome skos:closeMatch MONDO:0008999 Cohen syndrome semapv:ManualMappingCuration +NANDO:2200751 Barth syndrome skos:closeMatch MONDO:0010543 Barth syndrome semapv:ManualMappingCuration +NANDO:2200752 P14 deficiency skos:closeMatch MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency semapv:ManualMappingCuration +NANDO:2200753 X linked severe congenital neutropenia skos:closeMatch MONDO:0010294 X-linked severe congenital neutropenia semapv:ManualMappingCuration +NANDO:2200754 Glycogen storage disease type 1b skos:closeMatch MONDO:0009288 glycogen storage disease Ib semapv:ManualMappingCuration +NANDO:2200755 Leukocyte adhesion deficiency skos:closeMatch MONDO:0017570 leukocyte adhesion deficiency semapv:ManualMappingCuration +NANDO:2200756 Shwachman-Diamond syndrome skos:closeMatch MONDO:0009833 Shwachman-Diamond syndrome semapv:ManualMappingCuration +NANDO:2200757 Chronic granulomatous disease skos:closeMatch MONDO:0018305 chronic granulomatous disease semapv:ManualMappingCuration +NANDO:2200758 Myeloperoxidase deficiency skos:closeMatch MONDO:0009694 myeloperoxidase deficiency semapv:ManualMappingCuration +NANDO:2200759 Mendelian susceptibility to mycobacterial disease skos:closeMatch MONDO:0019146 inherited susceptibility to mycobacterial diseases semapv:ManualMappingCuration +NANDO:2200761 Anhidrotic ectodermal dysplasia with immunodeficiency skos:closeMatch MONDO:0010293 ectodermal dysplasia and immune deficiency semapv:ManualMappingCuration +NANDO:2200762 IRAK4 deficiency skos:closeMatch MONDO:0011888 immunodeficiency 67 semapv:ManualMappingCuration +NANDO:2200763 MyD88 deficiency skos:closeMatch MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency semapv:ManualMappingCuration +NANDO:2200764 Chronic mucocutaneous candidiasis skos:closeMatch MONDO:0015279 chronic mucocutaneous candidiasis semapv:ManualMappingCuration +NANDO:2200766 HOIL-1 deficiency skos:closeMatch MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency semapv:ManualMappingCuration +NANDO:2200767 WHIM syndrome skos:closeMatch MONDO:0008674 obsolete WHIM syndrome semapv:ManualMappingCuration +NANDO:2200768 Epidermodysplasia verruciformis skos:closeMatch MONDO:0009176 epidermodysplasia verruciformis semapv:ManualMappingCuration +NANDO:2200770 STAT2 deficiency skos:closeMatch MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection semapv:ManualMappingCuration +NANDO:2200771 MCM4 mutation skos:closeMatch MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency semapv:ManualMappingCuration +NANDO:2200772 Herpes simplex encephalitis skos:closeMatch MONDO:0012521 herpes simplex encephalitis semapv:ManualMappingCuration +NANDO:2200774 Trypanosomiasis skos:closeMatch MONDO:0000940 trypanosomiasis semapv:ManualMappingCuration +NANDO:2200775 Isolated congenital asplenia skos:closeMatch MONDO:0010066 familial isolated congenital asplenia semapv:ManualMappingCuration +NANDO:2200776 Inherited deficiency of complement system skos:closeMatch MONDO:0003832 complement deficiency semapv:ManualMappingCuration +NANDO:2200777 C1q deficiency skos:closeMatch MONDO:0013343 C1Q deficiency semapv:ManualMappingCuration +NANDO:2200779 C1s deficiency skos:closeMatch MONDO:0013419 complement component C1s deficiency semapv:ManualMappingCuration +NANDO:2200781 C2 deficiency skos:closeMatch MONDO:0009006 complement component 2 deficiency semapv:ManualMappingCuration +NANDO:2200782 C3 deficiency skos:closeMatch MONDO:0013417 complement component 3 deficiency semapv:ManualMappingCuration +NANDO:2200783 C5 deficiency skos:closeMatch MONDO:0012295 complement component 5 deficiency semapv:ManualMappingCuration +NANDO:2200784 C6 deficiency skos:closeMatch MONDO:0012908 complement component 6 deficiency semapv:ManualMappingCuration +NANDO:2200785 C7 deficiency skos:closeMatch MONDO:0012412 complement component 7 deficiency semapv:ManualMappingCuration +NANDO:2200787 C9 deficiency skos:closeMatch MONDO:0013445 complement component 9 deficiency semapv:ManualMappingCuration +NANDO:2200789 Properdin deficiency skos:closeMatch MONDO:0010713 properdin deficiency, X-linked semapv:ManualMappingCuration +NANDO:2200791 Factor H deficiency skos:closeMatch MONDO:0012350 complement factor H deficiency semapv:ManualMappingCuration +NANDO:2200792 Malpuech-Michels-Mingarelli-Carnevale syndrome skos:closeMatch MONDO:0017398 3MC syndrome semapv:ManualMappingCuration +NANDO:2200795 Hereditary angioedema skos:closeMatch MONDO:0007361 C1 inhibitor deficiency semapv:ManualMappingCuration +NANDO:2200795 Hereditary angioedema skos:closeMatch MONDO:0019623 hereditary angioedema semapv:ManualMappingCuration +NANDO:2200797 Factor B deficiency skos:closeMatch MONDO:0014255 complement factor b deficiency semapv:ManualMappingCuration +NANDO:2200801 CD21 deficiency skos:closeMatch MONDO:0013862 immunodeficiency, common variable, 7 semapv:ManualMappingCuration +NANDO:2200803 CD46 deficiency skos:closeMatch MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly semapv:ManualMappingCuration +NANDO:2200804 Primary CD59 deficiency skos:closeMatch MONDO:0012858 primary CD59 deficiency semapv:ManualMappingCuration +NANDO:2200805 Hyper eosinophilic syndrome skos:closeMatch MONDO:0015691 hypereosinophilic syndrome semapv:ManualMappingCuration +NANDO:2200806 Hypereosinophilic syndrome skos:closeMatch MONDO:0015691 hypereosinophilic syndrome semapv:ManualMappingCuration +NANDO:2200807 Eosinophilic gastrointestinal disorders skos:closeMatch MONDO:0018438 eosinophilic gastrointestinal disease semapv:ManualMappingCuration +NANDO:2200808 Chronic active EB virus infection skos:closeMatch MONDO:0009194 immunodeficiency 32B semapv:ManualMappingCuration +NANDO:2200809 Acquired immune deficiency syndrome skos:closeMatch MONDO:0012268 AIDS semapv:ManualMappingCuration +NANDO:2200810 HIV infection skos:closeMatch MONDO:0005109 HIV infectious disease semapv:ManualMappingCuration +NANDO:2200812 Chronic graft-versus-host disease skos:closeMatch MONDO:0020547 chronic graft versus host disease semapv:ManualMappingCuration +NANDO:2200813 Meningoencephalocele skos:closeMatch MONDO:0017079 meningoencephalocele semapv:ManualMappingCuration +NANDO:2200814 Myelomeningocele skos:closeMatch MONDO:0017069 spina bifida cystica semapv:ManualMappingCuration +NANDO:2200814 Myelomeningocele skos:closeMatch MONDO:0019773 myelomeningocele semapv:ManualMappingCuration +NANDO:2200815 Spinal lipoma skos:closeMatch MONDO:0001790 spinal cord lipoma semapv:ManualMappingCuration +NANDO:2200816 Sacrococcygeal teratoma skos:closeMatch MONDO:0042727 sacrococcygeal teratoma semapv:ManualMappingCuration +NANDO:2200817 Lissencephaly skos:closeMatch MONDO:0018838 lissencephaly spectrum disorders semapv:ManualMappingCuration +NANDO:2200818 Schizencephaly skos:closeMatch MONDO:0010011 schizencephaly semapv:ManualMappingCuration +NANDO:2200819 Holoprosencephaly skos:closeMatch MONDO:0016296 holoprosencephaly semapv:ManualMappingCuration +NANDO:2200820 Septo-optic dysplasia skos:closeMatch MONDO:0008428 septooptic dysplasia semapv:ManualMappingCuration +NANDO:2200821 Dandy-Walker syndrome skos:closeMatch MONDO:0009072 Dandy-Walker syndrome semapv:ManualMappingCuration +NANDO:2200822 Congenital hydrocephalus skos:closeMatch MONDO:0016349 congenital hydrocephalus semapv:ManualMappingCuration +NANDO:2200823 Megalencephaly-capillary malformation syndrome skos:closeMatch MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome semapv:ManualMappingCuration +NANDO:2200824 Joubert syndrome related disorders skos:closeMatch MONDO:0015369 Joubert syndrome and related disorders semapv:ManualMappingCuration +NANDO:2200825 Rett syndrome skos:closeMatch MONDO:0010726 Rett syndrome semapv:ManualMappingCuration +NANDO:2200826 Tuberous sclerosis complex skos:closeMatch MONDO:0001734 tuberous sclerosis semapv:ManualMappingCuration +NANDO:2200826 Tuberous sclerosis complex skos:closeMatch MONDO:0019341 obsolete tuberous sclerosis complex semapv:ManualMappingCuration +NANDO:2200827 Neurocutaneous melanosis skos:closeMatch MONDO:0009578 neurocutaneous melanocytosis semapv:ManualMappingCuration +NANDO:2200828 Gorlin syndrome skos:closeMatch MONDO:0007187 nevoid basal cell carcinoma syndrome semapv:ManualMappingCuration +NANDO:2200829 von Hippel-Lindau disease skos:closeMatch MONDO:0008667 von Hippel-Lindau disease semapv:ManualMappingCuration +NANDO:2200830 Sturge-Weber syndrome skos:closeMatch MONDO:0008501 Sturge-Weber syndrome semapv:ManualMappingCuration +NANDO:2200831 Werner syndrome skos:closeMatch MONDO:0010196 Werner syndrome semapv:ManualMappingCuration +NANDO:2200832 Cockayne syndrome skos:closeMatch MONDO:0016006 Cockayne syndrome semapv:ManualMappingCuration +NANDO:2200833 Hutchinson-Gilford syndrome skos:closeMatch MONDO:0008310 Hutchinson-Gilford progeria syndrome semapv:ManualMappingCuration +NANDO:2200834 Canavan disease skos:closeMatch MONDO:0010079 Canavan disease semapv:ManualMappingCuration +NANDO:2200835 Alexander disease skos:closeMatch MONDO:0008752 Alexander disease semapv:ManualMappingCuration +NANDO:2200836 Congenital hypomyelinating leukodystrophy skos:closeMatch MONDO:0019046 leukodystrophy semapv:ManualMappingCuration +NANDO:2200837 Megaloencephalic leukoencephalopathy with subcortical cysts skos:closeMatch MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts semapv:ManualMappingCuration +NANDO:2200838 Vanishing white matter disease skos:closeMatch MONDO:0011380 obsolete leukoencephalopathy with vanishing white matter semapv:ManualMappingCuration +NANDO:2200839 ATR-X syndrome skos:closeMatch MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome semapv:ManualMappingCuration +NANDO:2200840 Fragile X syndrome skos:closeMatch MONDO:0010383 fragile X syndrome semapv:ManualMappingCuration +NANDO:2200842 Cerebral creatine deficiency syndrome skos:closeMatch MONDO:0000456 cerebral creatine deficiency syndrome semapv:ManualMappingCuration +NANDO:2200843 Non-syndromic craniosynostosis skos:closeMatch MONDO:0015337 isolated craniosynostosis semapv:ManualMappingCuration +NANDO:2200844 Apert syndrome skos:closeMatch MONDO:0007041 Apert syndrome semapv:ManualMappingCuration +NANDO:2200845 Crouzon disease skos:closeMatch MONDO:0007405 Crouzon syndrome semapv:ManualMappingCuration +NANDO:2200847 Carpenter syndrome skos:closeMatch MONDO:0019012 Carpenter syndrome semapv:ManualMappingCuration +NANDO:2200848 Saethre-Chotzen syndrome skos:closeMatch MONDO:0007042 Saethre-Chotzen syndrome semapv:ManualMappingCuration +NANDO:2200850 Moyamoya disease skos:closeMatch MONDO:0016820 Moyamoya disease semapv:ManualMappingCuration +NANDO:2200851 Cerebral arteriovenous malformation skos:closeMatch MONDO:0007154 arteriovenous malformations of the brain semapv:ManualMappingCuration +NANDO:2200852 Cavernous angioma of the brain and spinal cord skos:closeMatch MONDO:0002327 intracranial cavernous angioma semapv:ManualMappingCuration +NANDO:2200853 Spinal muscular atrophy skos:closeMatch MONDO:0001516 spinal muscular atrophy semapv:ManualMappingCuration +NANDO:2200854 Congenital insensitivity to pain with anhidrosis skos:closeMatch MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 semapv:ManualMappingCuration +NANDO:2200855 Hereditary Motor and Sensory Neuropathy skos:closeMatch MONDO:0015358 hereditary motor and sensory neuropathy semapv:ManualMappingCuration +NANDO:2200855 Hereditary Motor and Sensory Neuropathy skos:closeMatch MONDO:0015626 Charcot-Marie-Tooth disease semapv:ManualMappingCuration +NANDO:2200856 Duchenne muscular dystrophy skos:closeMatch MONDO:0010679 Duchenne muscular dystrophy semapv:ManualMappingCuration +NANDO:2200857 Emery-Dreifuss muscular dystrophy skos:closeMatch MONDO:0016830 Emery-Dreifuss muscular dystrophy semapv:ManualMappingCuration +NANDO:2200858 Limb-girdle muscular dystrophy skos:closeMatch MONDO:0016971 limb-girdle muscular dystrophy semapv:ManualMappingCuration +NANDO:2200859 Facioscapulohumeral muscular dystrophy skos:closeMatch MONDO:0001347 facioscapulohumeral muscular dystrophy semapv:ManualMappingCuration +NANDO:2200860 Fukuyama type congenital muscular dystrophy skos:closeMatch MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 semapv:ManualMappingCuration +NANDO:2200861 Merosin-deficient congenital muscular dystrophy skos:closeMatch MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A semapv:ManualMappingCuration +NANDO:2200862 Ullrich congenital muscular dystrophy skos:closeMatch MONDO:0000355 Ullrich congenital muscular dystrophy semapv:ManualMappingCuration +NANDO:2200864 Myotonic dystrophy skos:closeMatch MONDO:0016107 myotonic dystrophy semapv:ManualMappingCuration +NANDO:2200865 Becker muscular dystrophy skos:closeMatch MONDO:0010311 Becker muscular dystrophy semapv:ManualMappingCuration +NANDO:2200866 LMNA-related congenital muscular dystrophy skos:closeMatch MONDO:0013178 congenital muscular dystrophy due to LMNA mutation semapv:ManualMappingCuration +NANDO:2200867 Myotubular myopathy skos:closeMatch MONDO:0002921 congenital structural myopathy semapv:ManualMappingCuration +NANDO:2200867 Myotubular myopathy skos:closeMatch MONDO:0018947 centronuclear myopathy semapv:ManualMappingCuration +NANDO:2200868 Congenital fiber-type disproportion myopathy skos:closeMatch MONDO:0009711 congenital fiber-type disproportion myopathy semapv:ManualMappingCuration +NANDO:2200869 Nemaline myopathy skos:closeMatch MONDO:0018958 nemaline myopathy semapv:ManualMappingCuration +NANDO:2200870 Central core disease skos:closeMatch MONDO:0007294 central core myopathy semapv:ManualMappingCuration +NANDO:2200871 Multicore disease skos:closeMatch MONDO:0018948 multiminicore myopathy semapv:ManualMappingCuration +NANDO:2200875 Reducing body myopathy skos:closeMatch MONDO:0019948 reducing body myopathy semapv:ManualMappingCuration +NANDO:2200876 Schwartz-Jampel syndrome skos:closeMatch MONDO:0009717 Schwartz-Jampel syndrome semapv:ManualMappingCuration +NANDO:2200877 Severe myoclonic epilepsy in infancy skos:closeMatch MONDO:0100135 Dravet syndrome semapv:ManualMappingCuration +NANDO:2200878 West syndrome skos:closeMatch MONDO:0018097 West syndrome semapv:ManualMappingCuration +NANDO:2200879 Lennox-Gastaut syndrome skos:closeMatch MONDO:0016532 Lennox-Gastaut syndrome semapv:ManualMappingCuration +NANDO:2200880 Unverricht-Lundborg disease skos:closeMatch MONDO:0009698 Unverricht-Lundborg syndrome semapv:ManualMappingCuration +NANDO:2200881 Lafora disease skos:closeMatch MONDO:0009697 Lafora disease semapv:ManualMappingCuration +NANDO:2200882 Spinocerebellar degeneration skos:closeMatch MONDO:0000437 cerebellar ataxia semapv:ManualMappingCuration +NANDO:2200883 Alternating hemiplegia of childhood skos:closeMatch MONDO:0016241 alternating hemiplegia of childhood semapv:ManualMappingCuration +NANDO:2200884 Dystonia musculorum deformans skos:closeMatch MONDO:0007492 early-onset generalized limb-onset dystonia semapv:ManualMappingCuration +NANDO:2200885 Segawa syndrome skos:closeMatch MONDO:0016812 dopa-responsive dystonia semapv:ManualMappingCuration +NANDO:2200886 Pantothenate kinase-associated neurodegeneration skos:closeMatch MONDO:0009319 pantothenate kinase-associated neurodegeneration semapv:ManualMappingCuration +NANDO:2200887 Infantile neuroaxonal dystrophy skos:closeMatch MONDO:0009739 obsolete infantile neuroaxonal dystrophy semapv:ManualMappingCuration +NANDO:2200888 Infantile bilateral striatal necrosis skos:closeMatch MONDO:0015518 infantile bilateral striatal necrosis semapv:ManualMappingCuration +NANDO:2200889 Congenital herpes simplex virus infection skos:closeMatch MONDO:0017381 congenital herpes simplex virus infection semapv:ManualMappingCuration +NANDO:2200890 Congenital rubella syndrome skos:closeMatch MONDO:0005713 obsolete MONDO:0005713 semapv:ManualMappingCuration +NANDO:2200890 Congenital rubella syndrome skos:closeMatch MONDO:0017361 congenital rubella syndrome semapv:ManualMappingCuration +NANDO:2200891 Congenital cytomegalovirus infection skos:closeMatch MONDO:0017409 fetal cytomegalovirus syndrome semapv:ManualMappingCuration +NANDO:2200892 Congenital toxoplasmosis skos:closeMatch MONDO:0005715 congenital toxoplasmosis semapv:ManualMappingCuration +NANDO:2200893 Aicardi-Goutières Syndrome skos:closeMatch MONDO:0018866 Aicardi-Goutieres syndrome semapv:ManualMappingCuration +NANDO:2200894 Aicardi-Goutieres syndrome 2 skos:closeMatch MONDO:0012429 Aicardi-Goutieres syndrome 2 semapv:ManualMappingCuration +NANDO:2200895 Aicardi-Goutieres syndrome 3 skos:closeMatch MONDO:0012471 Aicardi-Goutieres syndrome 3 semapv:ManualMappingCuration +NANDO:2200897 Aicardi-Goutieres syndrome 5 skos:closeMatch MONDO:0013059 Aicardi-Goutieres syndrome 5 semapv:ManualMappingCuration +NANDO:2200898 Aicardi-Goutieres syndrome 6 skos:closeMatch MONDO:0014007 Aicardi-Goutieres syndrome 6 semapv:ManualMappingCuration +NANDO:2200899 Subacute sclerosing panencephalitis skos:closeMatch MONDO:0009835 subacute sclerosing panencephalitis semapv:ManualMappingCuration +NANDO:2200900 Rasmussen's encephalitis skos:closeMatch MONDO:0016019 Rasmussen subacute encephalitis semapv:ManualMappingCuration +NANDO:2200901 Acute encephalopathy with biphasic seizures and late reduced diffusion skos:closeMatch MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion semapv:ManualMappingCuration +NANDO:2200902 Autoimmune encephalitis skos:closeMatch MONDO:0020640 autoimmune encephalitis semapv:ManualMappingCuration +NANDO:2200903 Acute encephalitis with refractory, repetitive partial seizures skos:closeMatch MONDO:0015584 febrile infection-related epilepsy syndrome semapv:ManualMappingCuration +NANDO:2200904 Multiple sclerosis skos:closeMatch MONDO:0005301 multiple sclerosis semapv:ManualMappingCuration +NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy skos:closeMatch MONDO:0002335 chronic inflammatory demyelinating polyneuritis semapv:ManualMappingCuration +NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy skos:closeMatch MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy semapv:ManualMappingCuration +NANDO:2200905 Chronic inflammatory demyelinating polyneuropathy skos:closeMatch MONDO:0007691 Guillain-Barre syndrome, familial semapv:ManualMappingCuration +NANDO:2200906 Myasthenia gravis skos:closeMatch MONDO:0009688 myasthenia gravis semapv:ManualMappingCuration +NANDO:2200907 Lactose intolerance skos:closeMatch MONDO:0009116 obsolete lactose intolerance semapv:ManualMappingCuration +NANDO:2200908 Congenital sucrase-isomaltase deficiency skos:closeMatch MONDO:0009114 congenital sucrase-isomaltase deficiency semapv:ManualMappingCuration +NANDO:2200909 Glucose-galactose malabsorption skos:closeMatch MONDO:0011731 glucose-galactose malabsorption semapv:ManualMappingCuration +NANDO:2200910 Enterokinase deficiency skos:closeMatch MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency semapv:ManualMappingCuration +NANDO:2200911 Amylase deficiency skos:closeMatch MONDO:0015169 chronic diarrhea due to glucoamylase deficiency semapv:ManualMappingCuration +NANDO:2200912 Lipase deficiency skos:closeMatch MONDO:0013700 pancreatic triacylglycerol lipase deficiency semapv:ManualMappingCuration +NANDO:2200913 Microvillus inclusion disease skos:closeMatch MONDO:0009635 microvillus inclusion disease semapv:ManualMappingCuration +NANDO:2200914 Intestinal lymphangiectasia skos:closeMatch MONDO:0018178 intestinal lymphangiectasia semapv:ManualMappingCuration +NANDO:2200915 Familial adenomatous polyposis skos:closeMatch MONDO:0021055 classic familial adenomatous polyposis semapv:ManualMappingCuration +NANDO:2200916 Juvenile polyposis skos:closeMatch MONDO:0017380 juvenile polyposis syndrome semapv:ManualMappingCuration +NANDO:2200917 Peutz-Jeghers syndrome skos:closeMatch MONDO:0008280 Peutz-Jeghers syndrome semapv:ManualMappingCuration +NANDO:2200918 Cowden syndrome skos:closeMatch MONDO:0016063 Cowden disease semapv:ManualMappingCuration +NANDO:2200919 Cyclic vomiting syndrome skos:closeMatch MONDO:0010778 cyclic vomiting syndrome semapv:ManualMappingCuration +NANDO:2200920 Ulcerative colitis skos:closeMatch MONDO:0005101 ulcerative colitis semapv:ManualMappingCuration +NANDO:2200921 Crohn's disease skos:closeMatch MONDO:0005011 Crohn disease semapv:ManualMappingCuration +NANDO:2200923 Autoimmune enteropathy skos:closeMatch MONDO:0019787 autoimmune enteropathy semapv:ManualMappingCuration +NANDO:2200924 IPEX syndrome skos:closeMatch MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome semapv:ManualMappingCuration +NANDO:2200925 Chronic nonspecific multiple ulcers of the small intestine skos:closeMatch MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene semapv:ManualMappingCuration +NANDO:2200930 biliary atresia skos:closeMatch MONDO:0008867 biliary atresia semapv:ManualMappingCuration +NANDO:2200930 biliary atresia skos:closeMatch MONDO:0028737 obsolete biliary atresia disorder semapv:ManualMappingCuration +NANDO:2200931 Alagille syndrome skos:closeMatch MONDO:0007318 Alagille syndrome semapv:ManualMappingCuration +NANDO:2200933 Progressive familial intrahepatic cholestasis skos:closeMatch MONDO:0015762 progressive familial intrahepatic cholestasis semapv:ManualMappingCuration +NANDO:2200934 Caroli disease skos:closeMatch MONDO:0010913 Caroli disease semapv:ManualMappingCuration +NANDO:2200934 Caroli disease skos:closeMatch MONDO:0018808 Caroli syndrome semapv:ManualMappingCuration +NANDO:2200936 Congenital hepatic fibrosis skos:closeMatch MONDO:0018840 isolated congenital hepatic fibrosis semapv:ManualMappingCuration +NANDO:2200937 Liver cirrhosis skos:closeMatch MONDO:0005155 cirrhosis of liver semapv:ManualMappingCuration +NANDO:2200941 Crigler-Najjar syndrome skos:closeMatch MONDO:0009044 Crigler-Najjar syndrome semapv:ManualMappingCuration +NANDO:2200942 Hereditary pancreatitis skos:closeMatch MONDO:0008185 hereditary chronic pancreatitis semapv:ManualMappingCuration +NANDO:2200943 Autoimmune pancreatitis skos:closeMatch MONDO:0015175 autoimmune pancreatitis semapv:ManualMappingCuration +NANDO:2200944 Short bowel syndrome skos:closeMatch MONDO:0015183 short bowel syndrome semapv:ManualMappingCuration +NANDO:2200945 Hirschsprung disease skos:closeMatch MONDO:0018309 Hirschsprung disease semapv:ManualMappingCuration +NANDO:2200946 Chronic idiopathic intestinal pseudo-obstruction skos:closeMatch MONDO:0017574 chronic intestinal pseudoobstruction semapv:ManualMappingCuration +NANDO:2200947 Megacystis-microcolon-intestinal hypoperistalsis syndrome skos:closeMatch MONDO:0007960 obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:ManualMappingCuration +NANDO:2200948 Congenital Isolated Hypoganglionosis skos:closeMatch MONDO:0018309 Hirschsprung disease semapv:ManualMappingCuration +NANDO:2200950 Persistent cloaca skos:closeMatch MONDO:0009774 cloacal exstrophy semapv:ManualMappingCuration +NANDO:2200951 Cloacal exstrophy skos:closeMatch MONDO:0009774 cloacal exstrophy semapv:ManualMappingCuration +NANDO:2200952 Coffin-Lowry syndrome skos:closeMatch MONDO:0010561 Coffin-Lowry syndrome semapv:ManualMappingCuration +NANDO:2200953 Sotos syndrome skos:closeMatch MONDO:0019349 Sotos syndrome semapv:ManualMappingCuration +NANDO:2200954 Smith-Magenis syndrome skos:closeMatch MONDO:0008434 Smith-Magenis syndrome semapv:ManualMappingCuration +NANDO:2200955 Rubinstein-Taybi syndrome skos:closeMatch MONDO:0019188 Rubinstein-Taybi syndrome semapv:ManualMappingCuration +NANDO:2200956 Kabuki syndrome skos:closeMatch MONDO:0016512 Kabuki syndrome semapv:ManualMappingCuration +NANDO:2200957 Weaver syndrome skos:closeMatch MONDO:0010193 Weaver syndrome semapv:ManualMappingCuration +NANDO:2200958 Cornelia de Lange syndrome skos:closeMatch MONDO:0016033 Cornelia de Lange syndrome semapv:ManualMappingCuration +NANDO:2200959 Beckwith-Wiedemann syndrome skos:closeMatch MONDO:0007534 Beckwith-Wiedemann syndrome semapv:ManualMappingCuration +NANDO:2200960 Angelman syndrome skos:closeMatch MONDO:0007113 Angelman syndrome semapv:ManualMappingCuration +NANDO:2200961 5p- syndrome skos:closeMatch MONDO:0007404 Cri-du-chat syndrome semapv:ManualMappingCuration +NANDO:2200962 4p- Syndrome skos:closeMatch MONDO:0008684 Wolf-Hirschhorn syndrome semapv:ManualMappingCuration +NANDO:2200963 Trisomy 18 skos:closeMatch MONDO:0018071 trisomy 18 semapv:ManualMappingCuration +NANDO:2200964 Trisomy 13 skos:closeMatch MONDO:0018068 trisomy 13 semapv:ManualMappingCuration +NANDO:2200965 Down syndrome skos:closeMatch MONDO:0008608 Down syndrome semapv:ManualMappingCuration +NANDO:2200967 CFC Syndrome skos:closeMatch MONDO:0015280 cardiofaciocutaneous syndrome semapv:ManualMappingCuration +NANDO:2200968 Marfan syndrome skos:closeMatch MONDO:0007947 Marfan syndrome semapv:ManualMappingCuration +NANDO:2200969 Loeys-Dietz syndrome skos:closeMatch MONDO:0018954 Loeys-Dietz syndrome semapv:ManualMappingCuration +NANDO:2200970 Camurati-Engelmann disease skos:closeMatch MONDO:0007542 Camurati-Engelmann disease semapv:ManualMappingCuration +NANDO:2200971 Costello syndrome skos:closeMatch MONDO:0009026 Costello syndrome semapv:ManualMappingCuration +NANDO:2200972 CHARGE syndrome skos:closeMatch MONDO:0008965 CHARGE syndrome semapv:ManualMappingCuration +NANDO:2200973 Hallermann-Streiff syndrome skos:closeMatch MONDO:0009318 Hallermann-Streiff syndrome semapv:ManualMappingCuration +NANDO:2200974 Incontinentia pigmenti skos:closeMatch MONDO:0010631 incontinentia pigmenti semapv:ManualMappingCuration +NANDO:2200975 Antley-Bixler syndrome skos:closeMatch MONDO:0008803 Antley-Bixler syndrome semapv:ManualMappingCuration +NANDO:2200976 Pfeiffer syndrome skos:closeMatch MONDO:0005810 infectious mononucleosis semapv:ManualMappingCuration +NANDO:2200976 Pfeiffer syndrome skos:closeMatch MONDO:0007043 Pfeiffer syndrome semapv:ManualMappingCuration +NANDO:2200977 Coffin-Siris syndrome skos:closeMatch MONDO:0015452 Coffin-Siris syndrome semapv:ManualMappingCuration +NANDO:2200978 Simpson-Golabi-Behmel syndrome skos:closeMatch MONDO:0010731 Simpson-Golabi-Behmel syndrome semapv:ManualMappingCuration +NANDO:2200979 Smith-Lemli-Opitz syndrome skos:closeMatch MONDO:0010035 Smith-Lemli-Opitz syndrome semapv:ManualMappingCuration +NANDO:2200980 Moebius syndrome skos:closeMatch MONDO:0008006 Mobius syndrome semapv:ManualMappingCuration +NANDO:2200981 Mowat-Wilson syndrome skos:closeMatch MONDO:0009341 Mowat-Wilson syndrome semapv:ManualMappingCuration +NANDO:2200982 Young-Simpson syndrome skos:closeMatch MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type semapv:ManualMappingCuration +NANDO:2200983 VATER syndrome skos:closeMatch MONDO:0008642 VACTERL/vater association semapv:ManualMappingCuration +NANDO:2200984 MECP2 duplication syndrome skos:closeMatch MONDO:0010283 syndromic X-linked intellectual disability Lubs type semapv:ManualMappingCuration +NANDO:2200985 Takenouchi-Kosaki syndrome skos:closeMatch MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome semapv:ManualMappingCuration +NANDO:2200986 Oculocutaneous albinism skos:closeMatch MONDO:0018910 oculocutaneous albinism semapv:ManualMappingCuration +NANDO:2200987 Keratinopathic ichthyosis skos:closeMatch MONDO:0017266 keratinopathic ichthyosis semapv:ManualMappingCuration +NANDO:2200988 Autosomal dominant epidermolytic ichthyosis skos:closeMatch MONDO:0020702 autosomal dominant epidermolytic ichthyosis semapv:ManualMappingCuration +NANDO:2200989 Autosomal recessive epidermolytic ichthyosis skos:closeMatch MONDO:0044742 autosomal recessive epidermolytic ichthyosis semapv:ManualMappingCuration +NANDO:2200990 Superficial epidermolytic ichthyosis skos:closeMatch MONDO:0007813 superficial epidermolytic ichthyosis semapv:ManualMappingCuration +NANDO:2200991 Autosomal recessive congenital ichthyosis skos:closeMatch MONDO:0017265 autosomal recessive congenital ichthyosis semapv:ManualMappingCuration +NANDO:2200992 Harlequin ichthyosis skos:closeMatch MONDO:0009443 autosomal recessive congenital ichthyosis 4B semapv:ManualMappingCuration +NANDO:2200993 Netherton syndrome skos:closeMatch MONDO:0009735 Netherton syndrome semapv:ManualMappingCuration +NANDO:2200994 Sjögren-Larsson syndrome skos:closeMatch MONDO:0010031 Sjogren-Larsson syndrome semapv:ManualMappingCuration +NANDO:2200996 Keratitis-ichthyosis-deafness syndrome skos:closeMatch MONDO:0018781 KID syndrome semapv:ManualMappingCuration +NANDO:2200997 Dorfman-Chanarin syndrome skos:closeMatch MONDO:0010155 Dorfman-Chanarin disease semapv:ManualMappingCuration +NANDO:2200997 Dorfman-Chanarin syndrome skos:closeMatch MONDO:0015611 neutral lipid storage disease semapv:ManualMappingCuration +NANDO:2200998 CHILD syndrome skos:closeMatch MONDO:0010621 CHILD syndrome semapv:ManualMappingCuration +NANDO:2200999 Ichthyosis-follicularis-atrichia-photophobia syndrome skos:closeMatch MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome semapv:ManualMappingCuration +NANDO:2201000 Epidermolysis bullosa skos:closeMatch MONDO:0006541 epidermolysis bullosa semapv:ManualMappingCuration +NANDO:2201001 Pustular psoriasis skos:closeMatch MONDO:0022205 pustular psoriasis semapv:ManualMappingCuration +NANDO:2201002 Xeroderma pigmentosum skos:closeMatch MONDO:0019600 xeroderma pigmentosum semapv:ManualMappingCuration +NANDO:2201003 von Recklinghausen's disease skos:closeMatch MONDO:0018975 neurofibromatosis type 1 semapv:ManualMappingCuration +NANDO:2201003 von Recklinghausen's disease skos:closeMatch MONDO:0021061 neurofibromatosis semapv:ManualMappingCuration +NANDO:2201004 Pachydermoperiostosis skos:closeMatch MONDO:0009799 obsolete pachydermoperiostosis semapv:ManualMappingCuration +NANDO:2201004 Pachydermoperiostosis skos:closeMatch MONDO:0016620 primary hypertrophic osteoarthropathy semapv:ManualMappingCuration +NANDO:2201005 Anhidrotic ectodermal dysplasia skos:closeMatch MONDO:0016535 hypohidrotic ectodermal dysplasia semapv:ManualMappingCuration +NANDO:2201006 Stevens-Johnson syndrome skos:closeMatch MONDO:0018229 Stevens-Johnson syndrome semapv:ManualMappingCuration +NANDO:2201007 Toxic epidermal necrolysis skos:closeMatch MONDO:0019810 toxic epidermal necrolysis semapv:ManualMappingCuration +NANDO:2201008 Thoracic insufficiency syndrome skos:closeMatch MONDO:0015929 thoracic malformation semapv:ManualMappingCuration +NANDO:2201009 Achondroplasia skos:closeMatch MONDO:0007037 Achondroplasia semapv:ManualMappingCuration +NANDO:2201010 Hypochondroplasia skos:closeMatch MONDO:0007793 hypochondroplasia semapv:ManualMappingCuration +NANDO:2201011 Osteogenesis imperfecta skos:closeMatch MONDO:0019019 osteogenesis imperfecta semapv:ManualMappingCuration +NANDO:2201012 Hypophosphatasia skos:closeMatch MONDO:0018570 hypophosphatasia semapv:ManualMappingCuration +NANDO:2201013 Osteopetrosis skos:closeMatch MONDO:0017198 osteopetrosis semapv:ManualMappingCuration +NANDO:2201014 Multiple cartilaginous exostosis skos:closeMatch MONDO:0005508 hereditary multiple osteochondromas semapv:ManualMappingCuration +NANDO:2201015 Enchondromatosis skos:closeMatch MONDO:0005508 hereditary multiple osteochondromas semapv:ManualMappingCuration +NANDO:2201015 Enchondromatosis skos:closeMatch MONDO:0008145 Ollier disease semapv:ManualMappingCuration +NANDO:2201016 Type II collagenopathy skos:closeMatch MONDO:0015627 multiple epiphyseal dysplasia due to collagen 9 anomaly semapv:ManualMappingCuration +NANDO:2201016 Type II collagenopathy skos:closeMatch MONDO:0016068 fibrochondrogenesis semapv:ManualMappingCuration +NANDO:2201016 Type II collagenopathy skos:closeMatch MONDO:0022800 type 2 collagenopathy semapv:ManualMappingCuration +NANDO:2201017 Chondrodysplasia punctata skos:closeMatch MONDO:0019701 chondrodysplasia punctata semapv:ManualMappingCuration +NANDO:2201018 Pseudoachondroplasia skos:closeMatch MONDO:0008322 pseudoachondroplasia semapv:ManualMappingCuration +NANDO:2201019 Larsen syndrome skos:closeMatch MONDO:0007875 Larsen syndrome semapv:ManualMappingCuration +NANDO:2201020 Fibrodysplasia ossificans progressiva skos:closeMatch MONDO:0003964 myositis ossificans semapv:ManualMappingCuration +NANDO:2201020 Fibrodysplasia ossificans progressiva skos:closeMatch MONDO:0007606 fibrodysplasia ossificans progressiva semapv:ManualMappingCuration +NANDO:2201021 Transient receptor potential cation channel, vanilloid subfamily, member 4 -associated disorders skos:closeMatch MONDO:0018240 TRPV4-related bone disorder semapv:ManualMappingCuration +NANDO:2201022 Osteosclerotic diseases skos:closeMatch MONDO:0002933 osteosclerosis semapv:ManualMappingCuration +NANDO:2201023 Pycnodysostosis skos:closeMatch MONDO:0009940 pycnodysostosis semapv:ManualMappingCuration +NANDO:2201024 Osteopoikilosis skos:closeMatch MONDO:0001414 osteopoikilosis semapv:ManualMappingCuration +NANDO:2201026 Beals syndrome skos:closeMatch MONDO:0007363 congenital contractural arachnodactyly semapv:ManualMappingCuration +NANDO:2201027 Blue rubber bleb nevus syndrome skos:closeMatch MONDO:0007203 blue rubber bleb nevus semapv:ManualMappingCuration +NANDO:2201030 Klippel-Trenaunay-Weber syndrome skos:closeMatch MONDO:0007864 angioosteohypertrophic syndrome semapv:ManualMappingCuration +NANDO:2201031 Primary lymphedema skos:closeMatch MONDO:0019175 primary lymphedema semapv:ManualMappingCuration +NANDO:2201032 Lymphangioma skos:closeMatch MONDO:0002013 lymphangioma semapv:ManualMappingCuration +NANDO:2201033 Lymphangiomatosis skos:closeMatch MONDO:0015408 diffuse lymphatic malformation semapv:ManualMappingCuration +NANDO:2201034 Hereditary hemorrhagic telangiectasia skos:closeMatch MONDO:0019180 hereditary hemorrhagic telangiectasia semapv:ManualMappingCuration +NANDO:2201035 Kasabach-Merritt syndrome skos:closeMatch MONDO:0007708 Kasabach-Merritt syndrome semapv:ManualMappingCuration +NANDO:2201038 Bilateral retinoblastoma skos:closeMatch MONDO:0003075 bilateral retinoblastoma semapv:ManualMappingCuration +NANDO:2201040 Bronchomalacia skos:closeMatch MONDO:0008888 Williams-Campbell syndrome semapv:ManualMappingCuration +NANDO:2201042 Hypertrophic obstructive cardiomyopathy skos:closeMatch MONDO:0005045 hypertrophic cardiomyopathy semapv:ManualMappingCuration +NANDO:2201046 Idiopathic pulmonary arterial hypertension skos:closeMatch MONDO:0017147 idiopathic pulmonary arterial hypertension semapv:ManualMappingCuration +NANDO:2201047 Familial pulmonary arterial hypertension skos:closeMatch MONDO:0017148 heritable pulmonary arterial hypertension semapv:ManualMappingCuration +NANDO:2201048 Secondary pulmonary arterial hypertension skos:closeMatch MONDO:0017150 obsolete pulmonary arterial hypertension associated with another disease semapv:ManualMappingCuration +NANDO:2201050 Familial central diabetes insipidus skos:closeMatch MONDO:0007450 neurohypophyseal diabetes insipidus semapv:ManualMappingCuration +NANDO:2201052 Multiple endocrine neoplasia type 2A skos:closeMatch MONDO:0008234 multiple endocrine neoplasia type 2A semapv:ManualMappingCuration +NANDO:2201053 Multiple endocrine neoplasia type 2B skos:closeMatch MONDO:0008082 multiple endocrine neoplasia type 2B semapv:ManualMappingCuration +NANDO:2201054 Medullary thyroid carcinoma skos:closeMatch MONDO:0015277 medullary thyroid gland carcinoma semapv:ManualMappingCuration +NANDO:2201055 Systemic juvenile idiopathic arthritis skos:closeMatch MONDO:0019434 systemic-onset juvenile idiopathic arthritis semapv:ManualMappingCuration +NANDO:2201056 Oligoarticular juvenile idiopathic arthritis skos:closeMatch MONDO:0019433 oligoarticular juvenile idiopathic arthritis semapv:ManualMappingCuration +NANDO:2201057 Rheumatoid factor-negative juvenile idiopathic arthritis skos:closeMatch MONDO:0043152 negative rheumatoid factor polyarthritis semapv:ManualMappingCuration +NANDO:2201058 Rheumatoid factor-positive juvenile idiopathic arthritis skos:closeMatch MONDO:0019435 rheumatoid factor-positive polyarticular juvenile idiopathic arthritis semapv:ManualMappingCuration +NANDO:2201059 Psoriatic juvenile idiopathic arthritis skos:closeMatch MONDO:0011849 psoriatic arthritis semapv:ManualMappingCuration +NANDO:2201061 Unclassifiable Juvenile idiopathic arthritis skos:closeMatch MONDO:0019607 unspecified juvenile idiopathic arthritis semapv:ManualMappingCuration +NANDO:2201066 Chronic infantile neurological cutaneous articular syndrome skos:closeMatch MONDO:0011776 CINCA syndrome semapv:ManualMappingCuration +NANDO:2201067 Muckle-Wells syndrome skos:closeMatch MONDO:0008633 Muckle-Wells syndrome semapv:ManualMappingCuration +NANDO:2201068 familial cold autoinflammatory syndrome skos:closeMatch MONDO:0018768 familial cold autoinflammatory syndrome semapv:ManualMappingCuration +NANDO:2201069 Maturity-onset diabetes of the young type 1 skos:closeMatch MONDO:0007452 maturity-onset diabetes of the young type 1 semapv:ManualMappingCuration +NANDO:2201070 Maturity-onset diabetes of the young type 2 skos:closeMatch MONDO:0007453 maturity-onset diabetes of the young type 2 semapv:ManualMappingCuration +NANDO:2201071 Maturity-onset diabetes of the young type 3 skos:closeMatch MONDO:0010894 maturity-onset diabetes of the young type 3 semapv:ManualMappingCuration +NANDO:2201072 Maturity-onset diabetes of the young type 4 skos:closeMatch MONDO:0011667 maturity-onset diabetes of the young type 4 semapv:ManualMappingCuration +NANDO:2201073 Maturity-onset diabetes of the young type 5 skos:closeMatch MONDO:0007669 renal cysts and diabetes syndrome semapv:ManualMappingCuration +NANDO:2201075 Phenylalanine hydroxylase deficiency skos:closeMatch MONDO:0009861 phenylketonuria semapv:ManualMappingCuration +NANDO:2201076 BH4 deficiency skos:closeMatch MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:ManualMappingCuration +NANDO:2201077 BH4-responsive hyperphenylalaninemia skos:closeMatch MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria semapv:ManualMappingCuration +NANDO:2201078 Classic form maple syrup urine disease skos:closeMatch MONDO:0017051 classic maple syrup urine disease semapv:ManualMappingCuration +NANDO:2201079 Intermediate maple syrup urine disease skos:closeMatch MONDO:0017052 intermediate maple syrup urine disease semapv:ManualMappingCuration +NANDO:2201080 Intermittent maple syrup urine disease skos:closeMatch MONDO:0017053 intermittent maple syrup urine disease semapv:ManualMappingCuration +NANDO:2201081 Thiamine-responsive maple syrup urine disease skos:closeMatch MONDO:0017054 thiamine-responsive maple syrup urine disease semapv:ManualMappingCuration +NANDO:2201084 Presymptomatic N-acetylglutamate synthetase deficiency skos:closeMatch MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency semapv:ManualMappingCuration +NANDO:2201094 Neonatal-onset argininosuccinate synthetase deficiency skos:closeMatch MONDO:0016600 acute neonatal citrullinemia type I semapv:ManualMappingCuration +NANDO:2201095 Late-onset argininosuccinate synthetase deficiency skos:closeMatch MONDO:0016601 adult-onset citrullinemia type I semapv:ManualMappingCuration +NANDO:2201105 Methylmalonic acidemia cblA type skos:closeMatch MONDO:0009613 methylmalonic aciduria, cblA type semapv:ManualMappingCuration +NANDO:2201106 Methylmalonic acidemia cblB type skos:closeMatch MONDO:0009614 methylmalonic aciduria, cblB type semapv:ManualMappingCuration +NANDO:2201107 Methylmalonic aciduria and homocystinuria, cblC type skos:closeMatch MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC semapv:ManualMappingCuration +NANDO:2201108 Methylmalonic acidemia CblD type skos:closeMatch MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD semapv:ManualMappingCuration +NANDO:2201109 Methylcobalamin deficiency cblE type skos:closeMatch MONDO:0009354 methylcobalamin deficiency type cblE semapv:ManualMappingCuration +NANDO:2201110 Methylmalonic acidemia and homocystinuria cblF type skos:closeMatch MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF semapv:ManualMappingCuration +NANDO:2201111 Methylcobalamin deficiency cblG type skos:closeMatch MONDO:0009609 methylcobalamin deficiency type cblG semapv:ManualMappingCuration +NANDO:2201111 Methylcobalamin deficiency cblG type skos:closeMatch MONDO:0021915 arakawa syndrome 2 semapv:ManualMappingCuration +NANDO:2201119 Presymptomatic 3-hydroxy-3-methylglutaric acidemia skos:closeMatch MONDO:0009520 3-hydroxy-3-methylglutaric aciduria semapv:ManualMappingCuration +NANDO:2201132 Neonatal-onset carnitine palmitoyltransferase II deficiency skos:closeMatch MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form semapv:ManualMappingCuration +NANDO:2201133 Infantile-onset carnitine palmitoyl transferase II deficiency skos:closeMatch MONDO:0015515 carnitine palmitoyltransferase II deficiency semapv:ManualMappingCuration +NANDO:2201134 Late-onset carnitine palmitoyltransferase II deficiency skos:closeMatch MONDO:0015515 carnitine palmitoyltransferase II deficiency semapv:ManualMappingCuration +NANDO:2201139 Presymptomatic very-long-chain acyl-CoA dehydrogenase deficiency skos:closeMatch MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration +NANDO:2201147 Presymptomatic trifunctional protein deficiency skos:closeMatch MONDO:0012172 mitochondrial trifunctional protein deficiency semapv:ManualMappingCuration +NANDO:2201151 Glycogen storage disease type 0a skos:closeMatch MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency semapv:ManualMappingCuration +NANDO:2201152 Glycogen storage disease type 0b skos:closeMatch MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency semapv:ManualMappingCuration +NANDO:2201153 Glycogen storage disease type 1a skos:closeMatch MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA semapv:ManualMappingCuration +NANDO:2201154 Glycogen storage disease type 1b skos:closeMatch MONDO:0009288 glycogen storage disease Ib semapv:ManualMappingCuration +NANDO:2201159 Glycogen storage disease type IV, hepatic form skos:closeMatch MONDO:0017695 glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form semapv:ManualMappingCuration +NANDO:2201160 Glycogen storage disease type IV, non-progressive hepatic form skos:closeMatch MONDO:0017696 glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form semapv:ManualMappingCuration +NANDO:2201161 Glycogen storage disease type IV, fatal neuromuscular form skos:closeMatch MONDO:0017697 glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form semapv:ManualMappingCuration +NANDO:2201162 Glycogen storage disease type IV, childhood combined hepatic and myopathic form skos:closeMatch MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form semapv:ManualMappingCuration +NANDO:2201163 Glycogen storage disease type IV, adult form skos:closeMatch MONDO:0009897 adult polyglucosan body disease semapv:ManualMappingCuration +NANDO:2201164 Glycogen storage disease type IXa skos:closeMatch MONDO:0010598 glycogen storage disease IXa1 semapv:ManualMappingCuration +NANDO:2201165 Glycogen storage disease type IXb skos:closeMatch MONDO:0009868 glycogen storage disease IXb semapv:ManualMappingCuration +NANDO:2201166 Glycogen storage disease type IXc skos:closeMatch MONDO:0013091 glycogen storage disease IXc semapv:ManualMappingCuration +NANDO:2201167 Glycogen storage disease type IXd skos:closeMatch MONDO:0010362 glycogen storage disease IXd semapv:ManualMappingCuration +NANDO:2201168 Hurler Disease skos:closeMatch MONDO:0001586 mucopolysaccharidosis type 1 semapv:ManualMappingCuration +NANDO:2201168 Hurler Disease skos:closeMatch MONDO:0011758 Hurler syndrome semapv:ManualMappingCuration +NANDO:2201169 Scheie disease skos:closeMatch MONDO:0011760 Scheie syndrome semapv:ManualMappingCuration +NANDO:2201170 Hurler-Scheie disease skos:closeMatch MONDO:0011759 Hurler-Scheie syndrome semapv:ManualMappingCuration +NANDO:2201171 Mucopolysaccharidosis type II, attenuated form skos:closeMatch MONDO:0016316 mucopolysaccharidosis type 2, attenuated form semapv:ManualMappingCuration +NANDO:2201172 Mucopolysaccharidosis type II, intermediate form skos:closeMatch MONDO:0016316 mucopolysaccharidosis type 2, attenuated form semapv:ManualMappingCuration +NANDO:2201173 Mucopolysaccharidosis type II, severe form skos:closeMatch MONDO:0016315 mucopolysaccharidosis type 2, severe form semapv:ManualMappingCuration +NANDO:2201174 Mucopolysaccharidosis type III A skos:closeMatch MONDO:0009655 mucopolysaccharidosis type 3A semapv:ManualMappingCuration +NANDO:2201175 Mucopolysaccharidosis type III B skos:closeMatch MONDO:0009656 mucopolysaccharidosis type 3B semapv:ManualMappingCuration +NANDO:2201176 Mucopolysaccharidosis type III C skos:closeMatch MONDO:0009657 mucopolysaccharidosis type 3C semapv:ManualMappingCuration +NANDO:2201177 Mucopolysaccharidosis type III D skos:closeMatch MONDO:0009658 mucopolysaccharidosis type 3D semapv:ManualMappingCuration +NANDO:2201178 Mucopolysaccharidosis type IV A skos:closeMatch MONDO:0009659 mucopolysaccharidosis type 4A semapv:ManualMappingCuration +NANDO:2201179 Mucopolysaccharidosis type IV B skos:closeMatch MONDO:0009660 mucopolysaccharidosis type 4B semapv:ManualMappingCuration +NANDO:2201188 Alpha-mannosidosis, infantile form skos:closeMatch MONDO:0017732 alpha-mannosidosis, infantile form semapv:ManualMappingCuration +NANDO:2201188 Alpha-mannosidosis, infantile form skos:closeMatch MONDO:0022424 alpha-mannosidosis type 1 semapv:ManualMappingCuration +NANDO:2201189 Alpha-mannosidosis, adult form skos:closeMatch MONDO:0017733 alpha-mannosidosis, adult form semapv:ManualMappingCuration +NANDO:2201190 Beta-mannosidosis skos:closeMatch MONDO:0009562 beta-mannosidosis semapv:ManualMappingCuration +NANDO:2201191 Sialidosis type 1 skos:closeMatch MONDO:0019346 sialidosis type 1 semapv:ManualMappingCuration +NANDO:2201192 Sialidosis type 2 skos:closeMatch MONDO:0009738 sialidosis type 2 semapv:ManualMappingCuration +NANDO:2201193 Galactosialidosis, early infantile form skos:closeMatch MONDO:0009738 sialidosis type 2 semapv:ManualMappingCuration +NANDO:2201196 GM1 gangliosidosis, infantile form skos:closeMatch MONDO:0009260 GM1 gangliosidosis type 1 semapv:ManualMappingCuration +NANDO:2201197 GM1 gangliosidosis, juvenile form skos:closeMatch MONDO:0009261 GM1 gangliosidosis type 2 semapv:ManualMappingCuration +NANDO:2201198 GM1 gangliosidosis, adult form skos:closeMatch MONDO:0009262 GM1 gangliosidosis type 3 semapv:ManualMappingCuration +NANDO:2201199 Tay-Sachs disease skos:closeMatch MONDO:0010100 Tay-Sachs disease semapv:ManualMappingCuration +NANDO:2201200 Sandhoff disease skos:closeMatch MONDO:0010006 Sandhoff disease semapv:ManualMappingCuration +NANDO:2201201 GM2 gangliosidosis AB variant skos:closeMatch MONDO:0010099 Tay-Sachs disease AB variant semapv:ManualMappingCuration +NANDO:2201202 Metachromatic leukodystrophy, late infantile form skos:closeMatch MONDO:0017729 metachromatic leukodystrophy, late infantile form semapv:ManualMappingCuration +NANDO:2201203 Metachromatic leukodystrophy, juvenile form skos:closeMatch MONDO:0009591 metachromatic leukodystrophy, juvenile form semapv:ManualMappingCuration +NANDO:2201204 Metachromatic leukodystrophy, adult form skos:closeMatch MONDO:0017730 metachromatic leukodystrophy, adult form semapv:ManualMappingCuration +NANDO:2201205 Saposin B deficiency skos:closeMatch MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency semapv:ManualMappingCuration +NANDO:2201206 Niemann-Pick disease type A skos:closeMatch MONDO:0009756 Niemann-Pick disease type A semapv:ManualMappingCuration +NANDO:2201207 Niemann-Pick disease type B skos:closeMatch MONDO:0011871 Niemann-Pick disease type B semapv:ManualMappingCuration +NANDO:2201209 Adult-onset Niemann-Pick disease type C skos:closeMatch MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset semapv:ManualMappingCuration +NANDO:2201210 Gaucher disease type 1 skos:closeMatch MONDO:0009265 Gaucher disease type I semapv:ManualMappingCuration +NANDO:2201211 Gaucher disease type 2 skos:closeMatch MONDO:0009266 Gaucher disease type II semapv:ManualMappingCuration +NANDO:2201212 Gaucher disease type 3 skos:closeMatch MONDO:0009267 Gaucher disease type III semapv:ManualMappingCuration +NANDO:2201216 Infantile Krabbe disease skos:closeMatch MONDO:0016089 infantile Krabbe disease semapv:ManualMappingCuration +NANDO:2201219 Adult Krabbe disease skos:closeMatch MONDO:0016091 adult Krabbe disease semapv:ManualMappingCuration +NANDO:2201229 Classic infantile Pompe disease skos:closeMatch MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset semapv:ManualMappingCuration +NANDO:2201232 Wolman disease skos:closeMatch MONDO:0019148 Wolman disease semapv:ManualMappingCuration +NANDO:2201233 Cholesterol ester storage disease skos:closeMatch MONDO:0019149 cholesteryl ester storage disease semapv:ManualMappingCuration +NANDO:2201234 Nephropathic cystinosis skos:closeMatch MONDO:0018467 nephropathic infantile cystinosis semapv:ManualMappingCuration +NANDO:2201234 Nephropathic cystinosis skos:closeMatch MONDO:0100151 nephropathic cystinosis semapv:ManualMappingCuration +NANDO:2201235 Intermediate cystinosis skos:closeMatch MONDO:0009066 juvenile nephropathic cystinosis semapv:ManualMappingCuration +NANDO:2201236 Non-nephropathic cystinosis skos:closeMatch MONDO:0009064 ocular cystinosis semapv:ManualMappingCuration +NANDO:2201237 Infantile free sialic acid storage disease skos:closeMatch MONDO:0010027 free sialic acid storage disease, infantile form semapv:ManualMappingCuration +NANDO:2201238 Intermediate severe Salla disease skos:closeMatch MONDO:0017737 intermediate severe Salla disease semapv:ManualMappingCuration +NANDO:2201240 Congenital neuronal ceroid lipofuscinosis skos:closeMatch MONDO:0008956 obsolete congenital neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:2201241 Infantile neuronal ceroid lipofuscinosis skos:closeMatch MONDO:0009744 neuronal ceroid lipofuscinosis 1 semapv:ManualMappingCuration +NANDO:2201241 Infantile neuronal ceroid lipofuscinosis skos:closeMatch MONDO:0019261 infantile neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:2201242 Late infantile neuronal ceroid lipofuscinosis skos:closeMatch MONDO:0008769 neuronal ceroid lipofuscinosis 2 semapv:ManualMappingCuration +NANDO:2201242 Late infantile neuronal ceroid lipofuscinosis skos:closeMatch MONDO:0015674 late infantile neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:2201243 Juvenile neuronal ceroid lipofuscinosis skos:closeMatch MONDO:0019262 juvenile neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:2201244 Adult neuronal ceroid lipofuscinosis skos:closeMatch MONDO:0019260 adult neuronal ceroid lipofuscinosis semapv:ManualMappingCuration +NANDO:2201248 Adrenomyeloneuropathy skos:closeMatch MONDO:0015339 adrenomyeloneuropathy semapv:ManualMappingCuration +NANDO:2201255 Homozygous familial hypercholesterolemia skos:closeMatch MONDO:0018328 homozygous familial hypercholesterolemia semapv:ManualMappingCuration +NANDO:2201256 Ehlers-Danlos syndrome, classical type skos:closeMatch MONDO:0007522 Ehlers-Danlos syndrome, classic type semapv:ManualMappingCuration +NANDO:2201257 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type semapv:ManualMappingCuration +NANDO:2201258 Ehlers-Danlos syndrome, vascular type skos:closeMatch MONDO:0017314 Ehlers-Danlos syndrome, vascular type semapv:ManualMappingCuration +NANDO:2201259 Ehlers-Danlos syndrome, kyphoscoliotic type skos:closeMatch MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 semapv:ManualMappingCuration +NANDO:2201259 Ehlers-Danlos syndrome, kyphoscoliotic type skos:closeMatch MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome semapv:ManualMappingCuration +NANDO:2201260 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type semapv:ManualMappingCuration +NANDO:2201261 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type semapv:ManualMappingCuration +NANDO:2201262 Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome skos:closeMatch MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type semapv:ManualMappingCuration +NANDO:2201263 Acute intermittent porphyria skos:closeMatch MONDO:0008294 acute intermittent porphyria semapv:ManualMappingCuration +NANDO:2201264 Hereditary coproporphyria skos:closeMatch MONDO:0007369 hereditary coproporphyria semapv:ManualMappingCuration +NANDO:2201265 Variegate porphyria skos:closeMatch MONDO:0008297 variegate porphyria semapv:ManualMappingCuration +NANDO:2201266 Erythropoietic protoporphyria skos:closeMatch MONDO:0001676 erythropoietic protoporphyria semapv:ManualMappingCuration +NANDO:2201266 Erythropoietic protoporphyria skos:closeMatch MONDO:0008319 protoporphyria, erythropoietic, 1 semapv:ManualMappingCuration +NANDO:2201267 Porphyria cutanea tarda skos:closeMatch MONDO:0015104 porphyria cutanea tarda semapv:ManualMappingCuration +NANDO:2201269 X-linked dominant protoporphyria skos:closeMatch MONDO:0010420 X-linked erythropoietic protoporphyria semapv:ManualMappingCuration +NANDO:2201270 Hepatoerythropoietic porphyria skos:closeMatch MONDO:0019799 hepatoerythropoietic porphyria semapv:ManualMappingCuration +NANDO:2201273 α-thalassemia skos:closeMatch MONDO:0011399 alpha thalassemia semapv:ManualMappingCuration +NANDO:2201274 β-thalassemia skos:closeMatch MONDO:0019402 beta thalassemia semapv:ManualMappingCuration +NANDO:2201275 Congenital aplastic anemia skos:closeMatch MONDO:0001713 inherited aplastic anemia semapv:ManualMappingCuration +NANDO:2201276 Idiopathic aplastic anemia skos:closeMatch MONDO:0012197 idiopathic aplastic anemia semapv:ManualMappingCuration +NANDO:2201279 gp91phox-deficient chronic granulomatous disease skos:closeMatch MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency semapv:ManualMappingCuration +NANDO:2201280 p22phox-deficient chronic granulomatous disease skos:closeMatch MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative semapv:ManualMappingCuration +NANDO:2201281 p47phox-deficient chronic granulomatous disease skos:closeMatch MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 semapv:ManualMappingCuration +NANDO:2201282 p67phox-deficient chronic granulomatous disease skos:closeMatch MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 semapv:ManualMappingCuration +NANDO:2201283 p40phox-deficient chronic granulomatous disease skos:closeMatch MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 semapv:ManualMappingCuration +NANDO:2201287 Altman type IV sacrococcygeal teratoma skos:closeMatch MONDO:0042727 sacrococcygeal teratoma semapv:ManualMappingCuration +NANDO:2201288 Pelizaeus-Merzbacher disease skos:closeMatch MONDO:0010714 Pelizaeus-Merzbacher disease semapv:ManualMappingCuration +NANDO:2201289 Pelizaeus-Merzbacher like disease skos:closeMatch MONDO:0017226 Pelizaeus-Merzbacher-like disease semapv:ManualMappingCuration +NANDO:2201290 Hypomyelination with atrophy of the basal ganglia and cerebellum skos:closeMatch MONDO:0012905 hypomyelinating leukodystrophy 6 semapv:ManualMappingCuration +NANDO:2201291 18q-syndrome skos:closeMatch MONDO:0011147 chromosome 18q deletion syndrome semapv:ManualMappingCuration +NANDO:2201292 Allan-Herndon-Dudley syndrome skos:closeMatch MONDO:0010354 Allan-Herndon-Dudley syndrome semapv:ManualMappingCuration +NANDO:2201293 Mitochondrial Hsp60 chaperonopathy skos:closeMatch MONDO:0012824 hypomyelinating leukodystrophy 4 semapv:ManualMappingCuration +NANDO:2201294 Salla disease skos:closeMatch MONDO:0011449 Salla disease semapv:ManualMappingCuration +NANDO:2201295 Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum skos:closeMatch MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:ManualMappingCuration +NANDO:2201296 Hypomyelination and congenital cataract skos:closeMatch MONDO:0012514 hypomyelinating leukodystrophy 5 semapv:ManualMappingCuration +NANDO:2201297 Ataxia, delayed dentition, and hypomyelination syndrome skos:closeMatch MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome semapv:ManualMappingCuration +NANDO:2201298 Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease skos:closeMatch MONDO:0012198 PCWH syndrome semapv:ManualMappingCuration +NANDO:2201299 AGAT deficiency skos:closeMatch MONDO:0012996 AGAT deficiency semapv:ManualMappingCuration +NANDO:2201300 GAMT deficiency skos:closeMatch MONDO:0012999 guanidinoacetate methyltransferase deficiency semapv:ManualMappingCuration +NANDO:2201301 SLC6A8 deficiency skos:closeMatch MONDO:0010305 creatine transporter deficiency semapv:ManualMappingCuration +NANDO:2201302 Non-syndromic sagittal craniosynostosis skos:closeMatch MONDO:0018112 isolated scaphocephaly semapv:ManualMappingCuration +NANDO:2201305 Non-syndromic metopic craniosynostosis skos:closeMatch MONDO:0018065 isolated trigonocephaly semapv:ManualMappingCuration +NANDO:2201317 Anti-NMDA receptor encephalitis skos:closeMatch MONDO:0021081 anti-NMDA receptor encephalitis semapv:ManualMappingCuration +NANDO:2201319 Relapsing-remitting multiple sclerosis skos:closeMatch MONDO:0005314 relapsing-remitting multiple sclerosis semapv:ManualMappingCuration +NANDO:2201320 Primary progressive multiple sclerosis skos:closeMatch MONDO:0000451 primary progressive multiple sclerosis semapv:ManualMappingCuration +NANDO:2201321 Secondary progressive multiple sclerosis skos:closeMatch MONDO:0000450 secondary progressive multiple sclerosis semapv:ManualMappingCuration +NANDO:2201322 Neuromyelitis optica skos:closeMatch MONDO:0019100 neuromyelitis optica semapv:ManualMappingCuration +NANDO:2201341 Epidermolysis bullosa simplex skos:closeMatch MONDO:0017610 epidermolysis bullosa simplex semapv:ManualMappingCuration +NANDO:2201342 Junctional epidermolysis bullosa skos:closeMatch MONDO:0017612 junctional epidermolysis bullosa semapv:ManualMappingCuration +NANDO:2201343 Dystrophic epidermolysis bullosa skos:closeMatch MONDO:0017608 obsolete dystrophic epidermolysis bullosa semapv:ManualMappingCuration +NANDO:2201345 Achondrogenesis type 2 skos:closeMatch MONDO:0008702 achondrogenesis type II semapv:ManualMappingCuration +NANDO:2201345 Achondrogenesis type 2 skos:closeMatch MONDO:0008703 acromesomelic dysplasia 2A semapv:ManualMappingCuration +NANDO:2201346 Hypochondrogenesis skos:closeMatch MONDO:0008703 acromesomelic dysplasia 2A semapv:ManualMappingCuration +NANDO:2201346 Hypochondrogenesis skos:closeMatch MONDO:0019669 hypochondrogenesis semapv:ManualMappingCuration +NANDO:2201347 Platyspondylic dysplasia, Torrance type skos:closeMatch MONDO:0007895 platyspondylic dysplasia, Torrance type semapv:ManualMappingCuration +NANDO:2201348 Spondyloepiphyseal dysplasia congenita skos:closeMatch MONDO:0008471 spondyloepiphyseal dysplasia congenita semapv:ManualMappingCuration +NANDO:2201349 Spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type semapv:ManualMappingCuration +NANDO:2201350 Kniest dysplasia skos:closeMatch MONDO:0007987 Kniest dysplasia semapv:ManualMappingCuration +NANDO:2201352 Mild spondyloepiphyseal dysplasia with premature-onset arthrosis skos:closeMatch MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis semapv:ManualMappingCuration +NANDO:2201353 Spondyloepiphyseal dysplasia with metatarsal shortening skos:closeMatch MONDO:0012206 Czech dysplasia, metatarsal type semapv:ManualMappingCuration +NANDO:2201354 Stickler syndrome type 1 skos:closeMatch MONDO:0007160 Stickler syndrome type 1 semapv:ManualMappingCuration +NANDO:2201356 X-linked recessive brachytelephalangic chondrodysplasia punctata skos:closeMatch MONDO:0010555 X-linked chondrodysplasia punctata 1 semapv:ManualMappingCuration +NANDO:2201357 X-linked dominant chondrodysplasia Punctata, Conradi-Hunermann Type skos:closeMatch MONDO:0020603 X-linked chondrodysplasia punctata 2 semapv:ManualMappingCuration +NANDO:2201358 CHILD syndrome skos:closeMatch MONDO:0010621 CHILD syndrome semapv:ManualMappingCuration +NANDO:2201359 Chondrodysplasia punctata, tibial-metacarpal type skos:closeMatch MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type semapv:ManualMappingCuration +NANDO:2201360 Brachytelephalangic chondrodysplasia punctata skos:closeMatch MONDO:0010555 X-linked chondrodysplasia punctata 1 semapv:ManualMappingCuration +NANDO:2201361 Greenberg dysplasia skos:closeMatch MONDO:0008974 Greenberg dysplasia semapv:ManualMappingCuration +NANDO:2201362 Astley-Kendall dysplasia skos:closeMatch MONDO:0019408 Astley-Kendall dysplasia semapv:ManualMappingCuration +NANDO:2201364 Melorheostosis skos:closeMatch MONDO:0007970 melorheostosis semapv:ManualMappingCuration +NANDO:2201365 Dysosteosclerosis skos:closeMatch MONDO:0009138 dysosteosclerosis semapv:ManualMappingCuration +NANDO:2201366 Craniometaphyseal dysplasia skos:closeMatch MONDO:0015465 craniometaphyseal dysplasia semapv:ManualMappingCuration +NANDO:2201367 Metaphyseal dysplasias skos:closeMatch MONDO:0009943 Pyle disease semapv:ManualMappingCuration +NANDO:2201368 Craniodiaphyseal dysplasia skos:closeMatch MONDO:0009031 craniodiaphyseal dysplasia semapv:ManualMappingCuration +NANDO:2201369 Sclerosteosis skos:closeMatch MONDO:0017838 sclerosteosis semapv:ManualMappingCuration +NANDO:2201375 Autosomal dominant epidermolysis bullosa simplex skos:closeMatch MONDO:0017610 epidermolysis bullosa simplex semapv:ManualMappingCuration +NANDO:2201376 Epidermolysis bullosa simplex with muscular dystrophy skos:closeMatch MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy semapv:ManualMappingCuration +NANDO:2201378 Herlitz junctional epidermolysis bullosa skos:closeMatch MONDO:0009182 junctional epidermolysis bullosa Herlitz type semapv:ManualMappingCuration +NANDO:2201379 Non-Herlitz junctional epidermolysis bullosa skos:closeMatch MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type semapv:ManualMappingCuration +NANDO:2201380 Junctional epidermolysis bullosa with pyloric atresia skos:closeMatch MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia semapv:ManualMappingCuration +NANDO:2201383 Recessive dystrophic epidermolysis bullosa, generalized severe skos:closeMatch MONDO:0009179 recessive dystrophic epidermolysis bullosa semapv:ManualMappingCuration +NANDO:2200069 Yolk sac tumour skos:closeMatch MONDO:0003759 childhood ovarian yolk sac tumor semapv:ManualMappingCuration +NANDO:2200214 Complete atrio-ventricular block skos:closeMatch MONDO:0009326 congenital heart block semapv:ManualMappingCuration +NANDO:2200801 CD21 deficiency skos:closeMatch MONDO:0012584 systemic lupus erythematosus, susceptibility to, 9 semapv:ManualMappingCuration +NANDO:1200301 Borderline between aplastic anemia and MDS skos:closeMatch MONDO:0013851 autosomal dominant aplasia and myelodysplasia semapv:ManualMappingCuration +NANDO:1200701 Complete transposition of the great arteries (Group2) skos:closeMatch MONDO:0016303 congenitally uncorrected transposition of the great arteries with cardiac malformation semapv:ManualMappingCuration +NANDO:1200703 Complete transposition of the great arteries (Group4) skos:closeMatch MONDO:0020385 congenitally uncorrected transposition of the great arteries with coarctation semapv:ManualMappingCuration +NANDO:1200838 Hepatic glycogen storage disease skos:closeMatch MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency semapv:ManualMappingCuration +NANDO:1200881 Giant lymphatic malformation (cervicofacial lesion) skos:closeMatch MONDO:0019328 macrocystic lymphatic malformation semapv:ManualMappingCuration +NANDO:2200138 Amyloid nephropathy skos:closeMatch MONDO:0007099 familial visceral amyloidosis semapv:ManualMappingCuration +NANDO:2200190 Laryngeal stenosis skos:closeMatch MONDO:0007879 larynx atresia semapv:ManualMappingCuration +NANDO:2200218 Multiple atrial tachycardia skos:closeMatch MONDO:0005310 atrial flutter semapv:ManualMappingCuration +NANDO:2200284 Coarctation complex skos:closeMatch MONDO:0015446 atypical coarctation of aorta semapv:ManualMappingCuration +NANDO:2200605 HDL deficiency skos:closeMatch MONDO:0100189 apolipoprotein A-I deficiency semapv:ManualMappingCuration +NANDO:2200948 Congenital Isolated Hypoganglionosis skos:closeMatch MONDO:0008738 aganglionosis, total intestinal semapv:ManualMappingCuration +NANDO:2201246 Childhood cerebral adrenoleukodystrophy skos:closeMatch MONDO:0010247 X-linked cerebral adrenoleukodystrophy semapv:ManualMappingCuration +NANDO:1200174 Chronic progressive external ophthalmoplegia skos:closeMatch MONDO:0005181 progressive external ophthalmoplegia semapv:ManualMappingCuration +NANDO:1201032 Cerebral creatine deficiency syndromes skos:closeMatch MONDO:0000456 cerebral creatine deficiency syndrome semapv:ManualMappingCuration +NANDO:1201033 Arginine:glycine amidinotransferase deficiency skos:closeMatch MONDO:0012996 AGAT deficiency semapv:ManualMappingCuration +NANDO:1201034 Guanidinoacetate methyltransferase deficiency skos:closeMatch MONDO:0012999 guanidinoacetate methyltransferase deficiency semapv:ManualMappingCuration +NANDO:1201035 Creatine transporter deficiency skos:closeMatch MONDO:0010305 creatine transporter deficiency semapv:ManualMappingCuration +NANDO:1201036 Nephronophthisis skos:closeMatch MONDO:0009728 nephronophthisis 1 semapv:ManualMappingCuration +NANDO:1201036 Nephronophthisis skos:closeMatch MONDO:0019005 nephronophthisis semapv:ManualMappingCuration +NANDO:1201037 Homozygous familial hypobetalipoproteinemia 1 skos:closeMatch MONDO:0014252 familial hypobetalipoproteinemia 1 semapv:ManualMappingCuration +NANDO:1201038 Homocystinuria skos:closeMatch MONDO:0004737 homocystinuria semapv:ManualMappingCuration +NANDO:1201039 Homocystinuria type 1 skos:closeMatch MONDO:0009352 classic homocystinuria semapv:ManualMappingCuration +NANDO:1201040 Homocystinuria type 2 skos:closeMatch MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC semapv:ManualMappingCuration +NANDO:1201041 Homocystinuria type 3 skos:closeMatch MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency semapv:ManualMappingCuration +NANDO:1201042 Progressive familial intrahepatic cholestasis skos:closeMatch MONDO:0015762 progressive familial intrahepatic cholestasis semapv:ManualMappingCuration +NANDO:1201043 Progressive familial intrahepatic cholestasis type 1 skos:closeMatch MONDO:0008892 progressive familial intrahepatic cholestasis type 1 semapv:ManualMappingCuration +NANDO:1201044 Progressive familial intrahepatic cholestasis type 2 skos:closeMatch MONDO:0011156 progressive familial intrahepatic cholestasis type 2 semapv:ManualMappingCuration +NANDO:1201045 Progressive familial intrahepatic cholestasis type 3 skos:closeMatch MONDO:0011214 progressive familial intrahepatic cholestasis type 3 semapv:ManualMappingCuration +NANDO:1201046 Progressive familial intrahepatic cholestasis type 4 skos:closeMatch MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 semapv:ManualMappingCuration +NANDO:1201047 Progressive familial intrahepatic cholestasis type 5 skos:closeMatch MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 semapv:ManualMappingCuration +NANDO:1201048 Acquired factor X inhibitor skos:closeMatch MONDO:0021134 acquired factor X deficiency semapv:ManualMappingCuration +NANDO:1201049 Senior-Loken syndrome skos:closeMatch MONDO:0017842 Senior-Loken syndrome semapv:ManualMappingCuration +NANDO:1201050 COACH syndrome skos:closeMatch MONDO:0008996 obsolete COACH syndrome 1 semapv:ManualMappingCuration +NANDO:1201051 Oral-facial-digital syndrome skos:closeMatch MONDO:0015375 orofaciodigital syndrome semapv:ManualMappingCuration +NANDO:1201056 End-plate acetylcholine esterase deficiency skos:closeMatch MONDO:0011281 congenital myasthenic syndrome 5 semapv:ManualMappingCuration +NANDO:1201057 Congenital myasthenic syndrome with episodic apnoea skos:closeMatch MONDO:0009689 congenital myasthenic syndrome 6 semapv:ManualMappingCuration +NANDO:1201058 RAPADILINO syndrome skos:closeMatch MONDO:0009955 rapadilino syndrome semapv:ManualMappingCuration +NANDO:1201059 Baller-Gerold syndrome skos:closeMatch MONDO:0009039 Baller-Gerold syndrome semapv:ManualMappingCuration +NANDO:1201060 Familial amyloid polyneuropathy type 1 skos:closeMatch MONDO:0007100 familial amyloid neuropathy semapv:ManualMappingCuration +NANDO:1201062 Familial amyloid polyneuropathy type 3 skos:closeMatch MONDO:0019731 AApoAI amyloidosis semapv:ManualMappingCuration +NANDO:1201063 Familial amyloid polyneuropathy type 4 skos:closeMatch MONDO:0007097 Finnish type amyloidosis semapv:ManualMappingCuration +NANDO:1201064 Kearns-Sayre syndrome skos:closeMatch MONDO:0010787 Kearns-Sayre syndrome semapv:ManualMappingCuration +NANDO:1201065 Herlitz junctional epidermolysis bullosa skos:closeMatch MONDO:0009182 junctional epidermolysis bullosa Herlitz type semapv:ManualMappingCuration +NANDO:1201066 Non-Herlitz junctional epidermolysis bullosa skos:closeMatch MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type semapv:ManualMappingCuration +NANDO:1201067 Nodular lymphocyte predominance Hodgkin lymphoma skos:closeMatch MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma semapv:ManualMappingCuration +NANDO:1201068 Agyria skos:closeMatch MONDO:0015146 classic lissencephaly semapv:ManualMappingCuration +NANDO:1201068 Agyria skos:closeMatch MONDO:0022402 agyria-pachygyria type 1 semapv:ManualMappingCuration +NANDO:1201069 Pachygyria skos:closeMatch MONDO:0015146 classic lissencephaly semapv:ManualMappingCuration +NANDO:1201069 Pachygyria skos:closeMatch MONDO:0022402 agyria-pachygyria type 1 semapv:ManualMappingCuration +NANDO:1201070 Subcortical band heterotopia skos:closeMatch MONDO:0020491 subcortical band heterotopia semapv:ManualMappingCuration +NANDO:1201079 Periventricular nodular heterotopia skos:closeMatch MONDO:0020341 periventricular nodular heterotopia semapv:ManualMappingCuration +NANDO:1201071 Polymicrogyria skos:closeMatch MONDO:0000087 polymicrogyria semapv:ManualMappingCuration +NANDO:1201072 Cobblestone brain malformation skos:closeMatch MONDO:0018869 cobblestone lissencephaly semapv:ManualMappingCuration +NANDO:1201073 Schizencephaly skos:closeMatch MONDO:0010011 schizencephaly semapv:ManualMappingCuration +NANDO:1201074 Porencephaly skos:closeMatch MONDO:0017410 porencephaly semapv:ManualMappingCuration +NANDO:1201080 Protein C deficiency skos:closeMatch MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency semapv:ManualMappingCuration +NANDO:1201081 Protein S deficiency skos:closeMatch MONDO:0002304 protein S deficiency semapv:ManualMappingCuration +NANDO:1201083 Miller Dieker syndrome skos:closeMatch MONDO:0009532 Miller-Dieker lissencephaly syndrome semapv:ManualMappingCuration +NANDO:1201075 Pseudohypoparathyroidism type 1A skos:closeMatch MONDO:0007078 Pseudohypoparathyroidism type 1A semapv:ManualMappingCuration +NANDO:1201076 Pseudohypoparathyroidism type 1B skos:closeMatch MONDO:0011301 pseudohypoparathyroidism type 1B semapv:ManualMappingCuration +NANDO:1201077 Pseudohypoparathyroidism type 1C skos:closeMatch MONDO:0012911 pseudohypoparathyroidism type 1C semapv:ManualMappingCuration +NANDO:1201078 Pseudohypoparathyroidism type 2 skos:closeMatch MONDO:0008749 pseudohypoparathyroidism type 2 semapv:ManualMappingCuration +NANDO:2201385 Galloway-Mowat syndrome skos:closeMatch MONDO:0009627 Galloway-Mowat syndrome semapv:ManualMappingCuration +NANDO:1200892 Hereditary sideroblastic anemia skos:closeMatch MONDO:0020099 inherited sideroblastic anemia semapv:ManualMappingCuration +NANDO:1200079 Late infantile metachromatic leukodystrophy skos:closeMatch MONDO:0017729 metachromatic leukodystrophy, late infantile form semapv:ManualMappingCuration +NANDO:1200081 Adult metachromatic leukodystrophy skos:closeMatch MONDO:0017730 metachromatic leukodystrophy, adult form semapv:ManualMappingCuration +NANDO:1200359 Mendelian susceptibility to mycobacterial disease skos:closeMatch MONDO:0019146 inherited susceptibility to mycobacterial diseases semapv:ManualMappingCuration +NANDO:1200428 Pulmonary capillary hemangiomatosis skos:closeMatch MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis semapv:ManualMappingCuration +NANDO:1200480 Minicore myopathy skos:closeMatch MONDO:0018948 multiminicore myopathy semapv:ManualMappingCuration +NANDO:1200568 Focal cortical dysplasia type 2a skos:closeMatch MONDO:0017101 isolated focal cortical dysplasia type IIa semapv:ManualMappingCuration +NANDO:1200569 Focal cortical dysplasia type 2b skos:closeMatch MONDO:0017102 isolated focal cortical dysplasia type IIb semapv:ManualMappingCuration +NANDO:1200632 Pemphigoid (including Epidermolysis bullosa acquisita) skos:closeMatch MONDO:0019082 bullous pemphigoid semapv:ManualMappingCuration +NANDO:1200693 Truncus arteriosus communis skos:closeMatch MONDO:0018072 persistent truncus arteriosus semapv:ManualMappingCuration +NANDO:1200751 Alveolar hypoventilation syndrome skos:closeMatch MONDO:0008346 pulmonary hemosiderosis semapv:ManualMappingCuration +NANDO:1200817 Congenital erythropoietic porphyria skos:closeMatch MONDO:0009902 cutaneous porphyria semapv:ManualMappingCuration +NANDO:1200831 Phosphoglycerate kinase deficiency skos:closeMatch MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency semapv:ManualMappingCuration +NANDO:1200889 Acquired pure red cell aplasia skos:closeMatch MONDO:0020338 adult pure red cell aplasia semapv:ManualMappingCuration +NANDO:1200995 Adenosine deaminase 2 deficiency skos:closeMatch MONDO:0014306 vasculitis due to ADA2 deficiency semapv:ManualMappingCuration +NANDO:2200054 Primitive neuroectodermal tumors skos:closeMatch MONDO:0018271 peripheral primitive neuroectodermal tumor semapv:ManualMappingCuration +NANDO:2200111 Diffuse mesangial sclerosis skos:closeMatch MONDO:0019654 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis semapv:ManualMappingCuration +NANDO:2200197 Bronchial asthma skos:closeMatch MONDO:0010940 inherited susceptibility to asthma semapv:ManualMappingCuration +NANDO:2200261 Truncus arteriosus communis skos:closeMatch MONDO:0018072 persistent truncus arteriosus semapv:ManualMappingCuration +NANDO:2200353 ACTH-independent macronodular adrenal hyperplasia skos:closeMatch MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia semapv:ManualMappingCuration +NANDO:2200374 21-Hydroxylase deficiency skos:closeMatch MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency semapv:ManualMappingCuration +NANDO:2200384 Ovarian dysgenesis skos:closeMatch MONDO:0009299 46 XX gonadal dysgenesis semapv:ManualMappingCuration +NANDO:2200389 5 alpha-reductase deficiency skos:closeMatch MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency semapv:ManualMappingCuration +NANDO:2200425 Polyangiitis nodosa skos:closeMatch MONDO:0019170 polyarteritis nodosa semapv:ManualMappingCuration +NANDO:2200441 Adenosine deaminase 2 deficiency skos:closeMatch MONDO:0014306 vasculitis due to ADA2 deficiency semapv:ManualMappingCuration +NANDO:2200450 Deficiency of the enzyme ADA2 skos:closeMatch MONDO:0014306 vasculitis due to ADA2 deficiency semapv:ManualMappingCuration +NANDO:2200459 NLRC4 mutation skos:closeMatch MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome semapv:ManualMappingCuration +NANDO:2200603 Familial combined hyperlipidemia skos:closeMatch MONDO:0001336 familial hyperlipidemia semapv:ManualMappingCuration +NANDO:2200610 Congenital porphyria skos:closeMatch MONDO:0019142 inherited porphyria semapv:ManualMappingCuration +NANDO:2200613 Acquired pure red cell aplasia skos:closeMatch MONDO:0020338 adult pure red cell aplasia semapv:ManualMappingCuration +NANDO:2200672 Afibrinogenemia skos:closeMatch MONDO:0008737 congenital afibrinogenemia semapv:ManualMappingCuration +NANDO:2200673 Hypoprothrombinemia skos:closeMatch MONDO:0013361 congenital prothrombin deficiency semapv:ManualMappingCuration +NANDO:2200700 ZAP-70 deficiency skos:closeMatch MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency semapv:ManualMappingCuration +NANDO:2200737 STAT5b deficiency skos:closeMatch MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive semapv:ManualMappingCuration +NANDO:2200773 CARD9 deficiency skos:closeMatch MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency semapv:ManualMappingCuration +NANDO:2200788 Factor D deficiency skos:closeMatch MONDO:0013487 recurrent Neisseria infections due to factor D deficiency semapv:ManualMappingCuration +NANDO:2200790 Factor I deficiency skos:closeMatch MONDO:0012594 complement factor I deficiency semapv:ManualMappingCuration +NANDO:2200793 MASP2 deficiency skos:closeMatch MONDO:0013423 immunodeficiency due to MASP-2 deficiency semapv:ManualMappingCuration +NANDO:2200794 Ficolin 3 Deficiency skos:closeMatch MONDO:0013467 immunodeficiency due to ficolin3 deficiency semapv:ManualMappingCuration +NANDO:2200798 Factor I deficiency skos:closeMatch MONDO:0012594 complement factor I deficiency semapv:ManualMappingCuration +NANDO:2200872 Minicore myopathy skos:closeMatch MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia semapv:ManualMappingCuration +NANDO:2201060 Enthesitis-related juvenile idiopathic arthritis skos:closeMatch MONDO:0019437 enthesitis-related juvenile idiopathic arthritis semapv:ManualMappingCuration +NANDO:2201268 Congenital erythropoietic porphyria skos:closeMatch MONDO:0009902 cutaneous porphyria semapv:ManualMappingCuration +NANDO:2201277 Secondary aplastic anemia skos:closeMatch MONDO:0015610 acquired aplastic anemia semapv:ManualMappingCuration +NANDO:2201351 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NANDO:1200811 + + + MONDO:NANDO + + + + + + + + NANDO:2100216 + NANDO:2200816 + NANDO:2201287 + + + + + NANDO:2100216 + + + MONDO:NANDO + + + + + NANDO:2200816 + + + MONDO:NANDO + + + + + NANDO:2201287 + + + MONDO:NANDO + + + + + + + + NANDO:2200306 + + + + + NANDO:2200306 + + + MONDO:NANDO + + + + + + + + NANDO:2100220 + + + + + NANDO:2100220 + + + MONDO:NANDO + + + + + + + + NANDO:1200628 + + + + + NANDO:1200628 + + + MONDO:NANDO + + + + + + + + NANDO:2201057 + + + + + NANDO:2201057 + + + MONDO:NANDO + + + + + + + + NANDO:1200265 + + + + + NANDO:1200265 + + + MONDO:NANDO + + + + + + + + NANDO:1200275 + + + + + NANDO:1200275 + + + MONDO:NANDO + + + + + + + + NANDO:2200351 + + + + + NANDO:2200351 + + + MONDO:NANDO + + + + + + + + NANDO:2100188 + + + + + NANDO:2100188 + + + MONDO:NANDO + + + + + + + + NANDO:2200039 + + + + + NANDO:2200039 + + + MONDO:NANDO + + + + + + + + NANDO:1200612 + NANDO:2200989 + + + + + NANDO:1200612 + + + MONDO:NANDO + + + + + NANDO:2200989 + + + MONDO:NANDO + 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a/src/ontology/external/nando-mappings.robot.tsv b/src/ontology/external/nando-mappings.robot.tsv new file mode 100644 index 00000000..cd275f15 --- /dev/null +++ b/src/ontology/external/nando-mappings.robot.tsv @@ -0,0 +1,2347 @@ +subject_id subject_label object_id equivalence author_id mapping_provider object_label +ID A oboInOwl:hasDbXref >A oboInOwl:source >AI oboInOwl:source SPLIT=| >A oboInOwl:source +MONDO:0000050 isolated congenital growth hormone deficiency NANDO:2200317 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital growth hormone deficiency +MONDO:0000087 polymicrogyria NANDO:1201071 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Polymicrogyria +MONDO:0000088 precocious puberty NANDO:2100135 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Precocious puberty +MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome NANDO:1200334 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO ICF syndrome +MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome NANDO:2200708 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO ICF syndrome +MONDO:0000147 polyposis NANDO:2100257 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Polyposis +MONDO:0000153 transposition of the great arteries NANDO:2200258 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Complete transposition of the great arteries +MONDO:0000188 GLUT1 deficiency syndrome NANDO:1200799 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glucose transporter 1 deficiency +MONDO:0000190 ventricular fibrillation NANDO:2100052 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ventricular fibrillation +MONDO:0000190 ventricular fibrillation NANDO:2200227 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ventricular fibrillation +MONDO:0000351 disorder of methionine catabolism NANDO:2200475 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypermethioninemia +MONDO:0000355 Ullrich congenital muscular dystrophy NANDO:1200215 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ullrich disease +MONDO:0000355 Ullrich congenital muscular dystrophy NANDO:2200862 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ullrich congenital muscular dystrophy +MONDO:0000390 vitelliform macular dystrophy NANDO:1200932 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Vitelliform macular dystrophy +MONDO:0000437 cerebellar ataxia NANDO:1200037 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Spinocerebellar degeneration +MONDO:0000437 cerebellar ataxia NANDO:2100238 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Spinocerebellar degeneration +MONDO:0000437 cerebellar ataxia NANDO:2200882 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Spinocerebellar degeneration +MONDO:0000450 secondary progressive multiple sclerosis NANDO:1200026 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Secondary progressive multiple sclerosis +MONDO:0000450 secondary progressive multiple sclerosis NANDO:2201321 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Secondary progressive multiple sclerosis +MONDO:0000451 primary progressive multiple sclerosis NANDO:1200025 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Primary progressive multiple sclerosis +MONDO:0000451 primary progressive multiple sclerosis NANDO:2201320 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Primary progressive multiple sclerosis +MONDO:0000455 cone dystrophy NANDO:1200936 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cone dystrophy +MONDO:0000456 cerebral creatine deficiency syndrome NANDO:1201032 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cerebral creatine deficiency syndromes +MONDO:0000456 cerebral creatine deficiency syndrome NANDO:2100226 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cerebral creatine deficiency syndromes +MONDO:0000456 cerebral creatine deficiency syndrome NANDO:2200842 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cerebral creatine deficiency syndrome +MONDO:0000468 third-degree atrioventricular block NANDO:2200214 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Complete atrio-ventricular block +MONDO:0000521 salivary gland carcinoma NANDO:2200076 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Salivary grand carcinoma +MONDO:0000608 familial juvenile hyperuricemic nephropathy NANDO:2100014 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Familial juvenile hyperuricemic nephropathy +MONDO:0000608 familial juvenile hyperuricemic nephropathy NANDO:2200139 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Familial juvenile hyperuricemic nephropathy +MONDO:0000640 central nervous system primitive neuroectodermal neoplasm NANDO:2200099 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Primitive neuroectodermal tumour of the central nervous system +MONDO:0000640 central nervous system primitive neuroectodermal neoplasm NANDO:2200100 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Primitive neuroectodermal tumour of the central nervous system +MONDO:0000721 xanthinuria NANDO:2200588 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Xanthinuria +MONDO:0000811 anomalous left coronary artery from the pulmonary artery NANDO:2200242 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Abnormal origin of left coronary artery from pulmonary artery +MONDO:0000839 obsolete congenital abnormality NANDO:1200957 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital anomalies syndrome +MONDO:0000872 B-cell childhood acute lymphoblastic leukemia NANDO:2200002 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mature B-cell lymphoblastic leukemia +MONDO:0000875 adult acute monocytic leukemia NANDO:2200008 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acute monocytic leukemia +MONDO:0000875 adult acute monocytic leukemia NANDO:2200009 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acute monocytic leukemia +MONDO:0000903 myoclonus-dystonia syndrome NANDO:1200522 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dystonia 11 +MONDO:0000940 trypanosomiasis NANDO:2200774 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Trypanosomiasis +MONDO:0000984 thalassemia NANDO:2200626 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Thalassemia +MONDO:0000995 familial periodic paralysis NANDO:1200502 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary periodic paralysis +MONDO:0001083 Fanconi renotubular syndrome NANDO:2100027 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fanconi syndrome +MONDO:0001083 Fanconi renotubular syndrome NANDO:2200187 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fanconi syndrome +MONDO:0001085 interstitial nephritis NANDO:2200136 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tubulointerstitial nephritis +MONDO:0001105 renal hypertension NANDO:2100016 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Renovascular hypertension +MONDO:0001105 renal hypertension NANDO:2200141 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Renovascular hypertension +MONDO:0001110 chronic pyelonephritis NANDO:2100012 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic pyelonephritis +MONDO:0001110 chronic pyelonephritis NANDO:2200137 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic pyelonephritis +MONDO:0001115 familial polycythemia NANDO:2100187 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Familial polycythemia +MONDO:0001115 familial polycythemia NANDO:2200644 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Familial polycythemia +MONDO:0001220 hypoparathyroidism NANDO:1200775 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypoparathyroidism +MONDO:0001220 hypoparathyroidism NANDO:2100124 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypoparathyroidism +MONDO:0001220 hypoparathyroidism NANDO:2200345 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypoparathyroidism +MONDO:0001243 disseminated intravascular coagulation NANDO:2200639 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Disseminated intravascular coagulation +MONDO:0001261 Mobitz type II atrioventricular block NANDO:2100044 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mobitz type II second degree atrioventricular block +MONDO:0001261 Mobitz type II atrioventricular block NANDO:2200213 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mobitz type II second degree atrioventricular block +MONDO:0001298 congenital mitral valve insufficiency NANDO:2200303 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mitral regurgitation +MONDO:0001324 obsolete hyperandrogenism NANDO:2200380 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hyperandrogenism +MONDO:0001328 thyroid hormone resistance syndrome NANDO:1200395 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Resistance to thyroid hormone +MONDO:0001328 thyroid hormone resistance syndrome NANDO:2100121 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Resistance to thyroid hormone +MONDO:0001328 thyroid hormone resistance syndrome NANDO:2200341 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Resistance to thyroid hormone +MONDO:0001336 familial hyperlipidemia NANDO:2200603 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Familial combined hyperlipidemia +MONDO:0001341 selective IgA deficiency disease NANDO:1200347 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Selective IgA deficiency +MONDO:0001341 selective IgA deficiency disease NANDO:2200720 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Selective IgA deficiency +MONDO:0001347 facioscapulohumeral muscular dystrophy NANDO:1200491 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Facioscapulohumeral muscular dystrophy +MONDO:0001347 facioscapulohumeral muscular dystrophy NANDO:2200859 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Facioscapulohumeral muscular dystrophy +MONDO:0001414 osteopoikilosis NANDO:2201024 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Osteopoikilosis +MONDO:0001422 primary aldosteronism NANDO:2200361 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aldosteronism +MONDO:0001437 pulmonary alveolar proteinosis NANDO:1200746 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pulmonary alveolar proteinosis +MONDO:0001493 chronic pulmonary heart disease NANDO:2200299 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic cor pulmonale +MONDO:0001516 spinal muscular atrophy NANDO:1200003 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Spinal muscular atrophy +MONDO:0001516 spinal muscular atrophy NANDO:2100231 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Spinal muscular atrophy +MONDO:0001516 spinal muscular atrophy NANDO:2200853 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Spinal muscular atrophy +MONDO:0001558 Potter sequence NANDO:2200157 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Potter syndrome +MONDO:0001586 mucopolysaccharidosis type 1 NANDO:2200547 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mucopolysaccharidosis type I +MONDO:0001586 mucopolysaccharidosis type 1 NANDO:2201168 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hurler Disease +MONDO:0001645 crescentic glomerulonephritis NANDO:1200714 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Rapidly progressive glomerulonephritis +MONDO:0001645 crescentic glomerulonephritis NANDO:1200723 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Crescentic glomerulonephritis +MONDO:0001676 erythropoietic protoporphyria NANDO:1200815 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Erythropoietic protoporphyria +MONDO:0001676 erythropoietic protoporphyria NANDO:2201266 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Erythropoietic protoporphyria +MONDO:0001700 megaloblastic anemia NANDO:2100176 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Megaloblastic anemia +MONDO:0001700 megaloblastic anemia NANDO:2200612 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Megaloblastic anemia +MONDO:0001705 pure red-cell aplasia NANDO:2100177 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pure red cell aplasia +MONDO:0001713 inherited aplastic anemia NANDO:1200302 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital aplastic anemia +MONDO:0001713 inherited aplastic anemia NANDO:2201275 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital aplastic anemia +MONDO:0001734 tuberous sclerosis NANDO:1200607 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tuberous sclerosis complex +MONDO:0001734 tuberous sclerosis NANDO:2200826 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tuberous sclerosis complex +MONDO:0001741 hyperparathyroidism NANDO:2100123 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hyperparathyroidism +MONDO:0001741 hyperparathyroidism NANDO:2200343 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hyperparathyroidism +MONDO:0001790 spinal cord lipoma NANDO:2200815 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Spinal lipoma +MONDO:0001823 sick sinus syndrome NANDO:2100043 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sick sinus syndrome +MONDO:0001823 sick sinus syndrome NANDO:2200212 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sick sinus syndrome +MONDO:0001909 renal tubular acidosis NANDO:2100019 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Renal tubular acidosis +MONDO:0001909 renal tubular acidosis NANDO:2200144 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Renal tubular acidosis +MONDO:0001927 pulmonary valve insufficiency NANDO:2200305 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pulmonary valve regurgitation +MONDO:0001946 obsolete hyperestrogenism NANDO:2200379 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hyperestrogenism +MONDO:0001969 mixed gonadal dysgenesis NANDO:2200388 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mixed gonadal dysgenesis +MONDO:0001982 Niemann-Pick disease NANDO:2200561 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Niemann-Pick disease +MONDO:0002012 methylmalonic acidemia NANDO:1200793 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Methylmalonic acidemia +MONDO:0002012 methylmalonic acidemia NANDO:2200491 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Methylmalonic acidemia +MONDO:0002013 lymphangioma NANDO:2201032 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lymphangioma +MONDO:0002070 ventricular septal defect NANDO:2100087 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ventricular septal defect +MONDO:0002070 ventricular septal defect NANDO:2200270 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ventricular septal defect +MONDO:0002108 thyroid cancer NANDO:2200074 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Thyroid cancer +MONDO:0002145 disorder of sexual differentiation NANDO:2100140 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Disorders of sex development +MONDO:0002241 factor XIII deficiency NANDO:2200681 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Factor XIII deficiency +MONDO:0002244 factor VII deficiency NANDO:2200675 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Factor VII deficiency +MONDO:0002247 factor X deficiency NANDO:2200678 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Factor X deficiency +MONDO:0002304 protein S deficiency NANDO:1201081 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Protein S deficiency +MONDO:0002304 protein S deficiency NANDO:2100198 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Protein S deficiency +MONDO:0002304 protein S deficiency NANDO:2200690 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Protein S deficiency +MONDO:0002327 intracranial cavernous angioma NANDO:2200852 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cavernous angioma of the brain and spinal cord +MONDO:0002335 chronic inflammatory demyelinating polyneuritis NANDO:1200030 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic inflammatory demyelinating polyneuropathy +MONDO:0002335 chronic inflammatory demyelinating polyneuritis NANDO:2100251 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic inflammatory demyelinating polyneuropathy +MONDO:0002335 chronic inflammatory demyelinating polyneuritis NANDO:2200905 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic inflammatory demyelinating polyneuropathy +MONDO:0002412 disorder of glycogen metabolism NANDO:1200838 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hepatic glycogen storage disease +MONDO:0002413 glycogen storage disease I NANDO:1200840 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hepatic glycogen storage disease type Ia +MONDO:0002413 glycogen storage disease I NANDO:1201018 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hepatic glycogen storage disease type I +MONDO:0002413 glycogen storage disease I NANDO:2200538 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage disease type I +MONDO:0002429 idiopathic interstitial pneumonia NANDO:1200416 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Idiopathic interstitial pneumonia +MONDO:0002429 idiopathic interstitial pneumonia NANDO:2200199 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Idiopathic interstitial pneumonia +MONDO:0002442 long QT syndrome NANDO:2100053 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Long QT syndrome +MONDO:0002442 long QT syndrome NANDO:2200228 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Long qt syndrome +MONDO:0002461 membranoproliferative glomerulonephritis NANDO:1200737 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lobular membranoproliferative glomerulonephritis type I +MONDO:0002461 membranoproliferative glomerulonephritis NANDO:2200123 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Membranoproliferative glomerulonephritis +MONDO:0002470 photosensitive trichothiodystrophy NANDO:1200626 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature +MONDO:0002473 cystic kidney disease NANDO:2200172 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Simple renal cyst +MONDO:0002474 primary hyperoxaluria NANDO:2200503 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Primary hyperoxaluria +MONDO:0002540 childhood oligodendroglioma NANDO:2200089 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Oligodendroglioma +MONDO:0002543 adult oligodendroglioma NANDO:2200089 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Oligodendroglioma +MONDO:0002546 schwannoma NANDO:2200103 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neurinoma +MONDO:0002561 lysosomal storage disease NANDO:1200055 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lysosomal storage disease +MONDO:0002561 lysosomal storage disease NANDO:2100165 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lysosomal storage disease +MONDO:0002568 tracheal stenosis NANDO:2200194 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tracheal stenosis +MONDO:0002623 pediatric osteosarcoma NANDO:2200048 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Osteosarcoma +MONDO:0002637 histiocytosis NANDO:2100005 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Histiocytosis +MONDO:0002676 adult fibrosarcoma NANDO:2200060 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fibrosarcoma +MONDO:0002678 pediatric fibrosarcoma NANDO:2200060 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fibrosarcoma +MONDO:0002714 central nervous system cancer NANDO:2100007 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Central nervous system tumors +MONDO:0002718 central nervous system teratoma NANDO:2200104 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Teratoma of the central nervous system +MONDO:0002728 rhabdoid tumor NANDO:2200057 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Malignant rhabdoid tumour +MONDO:0002794 adult medulloblastoma NANDO:2200090 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Medulloblastoma +MONDO:0002797 childhood medulloblastoma NANDO:2200090 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Medulloblastoma +MONDO:0002807 bronchial neoplasm NANDO:2200081 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Bronchial tumour +MONDO:0002869 heart valve disorder NANDO:2100105 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Valvular heart disease +MONDO:0002870 tricuspid valve insufficiency NANDO:2200301 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tricuspid valve regurgitation +MONDO:0002921 congenital structural myopathy NANDO:1200482 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Centronuclear myopathy +MONDO:0002921 congenital structural myopathy NANDO:2200867 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myotubular myopathy +MONDO:0002926 clear cell sarcoma NANDO:2200062 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Clear cell sarcoma +MONDO:0002933 osteosclerosis NANDO:2201022 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Osteosclerotic diseases +MONDO:0003002 dysgerminoma NANDO:2200066 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dysgerminoma +MONDO:0003057 pediatric meningioma NANDO:2200094 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Meningioma +MONDO:0003075 bilateral retinoblastoma NANDO:2201038 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Bilateral retinoblastoma +MONDO:0003136 anti-basement membrane glomerulonephritis NANDO:1200717 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Anti-GBM rapidly progressive glomerulonephritis +MONDO:0003139 mesangial proliferative glomerulonephritis NANDO:1201029 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mesangial proliferative glomerulonephritis +MONDO:0003139 mesangial proliferative glomerulonephritis NANDO:2200122 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mesangial proliferative glomerulonephritis +MONDO:0003157 disappearing bone disease NANDO:1200878 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lymphangiomatosis / Gorham-Stout disease +MONDO:0003157 disappearing bone disease NANDO:1200880 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO obsolete Gorham disease +MONDO:0003330 urinary tract obstruction NANDO:2200178 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Obstructive uropathy +MONDO:0003517 mature teratoma NANDO:2200105 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mature teratoma +MONDO:0003523 gastrin-producing neuroendocrine tumor NANDO:2200395 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Gastrinoma +MONDO:0003585 adult liposarcoma NANDO:2200065 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Liposarcoma +MONDO:0003587 pediatric liposarcoma NANDO:2200065 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Liposarcoma +MONDO:0003659 pediatric lymphoma NANDO:2100004 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lymphoma +MONDO:0003660 adult lymphoma NANDO:2100004 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lymphoma +MONDO:0003664 hemolytic anemia NANDO:2200636 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hemolytic anemia +MONDO:0003689 familial hemolytic anemia NANDO:2100183 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary hemolytic anemia +MONDO:0003759 childhood ovarian yolk sac tumor NANDO:2200069 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Yolk sac tumour +MONDO:0003778 inborn error of immunity NANDO:1200320 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Primary immunodeficiency syndrome +MONDO:0003778 inborn error of immunity NANDO:2100204 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Immunodeficiency +MONDO:0003832 complement deficiency NANDO:1200364 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Inherited deficiency of complement system +MONDO:0003832 complement deficiency NANDO:2200776 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Inherited deficiency of complement system +MONDO:0003900 connective tissue disorder NANDO:2100172 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Connective tissue disorder +MONDO:0003924 adrenal cortex adenoma NANDO:2200352 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Adrenal adenoma +MONDO:0003947 hyper-IgM syndrome NANDO:1200345 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hyper-IgM syndrome +MONDO:0003947 hyper-IgM syndrome NANDO:2200718 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hyper-IgM syndrome +MONDO:0003964 myositis ossificans NANDO:1200871 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fibrodysplasia ossificans progressiva +MONDO:0003964 myositis ossificans NANDO:2201020 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fibrodysplasia ossificans progressiva +MONDO:0004000 childhood pilocytic astrocytoma NANDO:2200084 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pilocytic astrocytoma +MONDO:0004069 inborn mitochondrial metabolism disorder NANDO:1200173 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mitochondrial diseases +MONDO:0004069 inborn mitochondrial metabolism disorder NANDO:2100163 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mitochondrial diseases +MONDO:0004218 childhood germ cell brain tumor NANDO:2200108 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Intracranial germ cell tumour +MONDO:0004335 digestive system disorder NANDO:1100013 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Gastrointestinal disease +MONDO:0004355 childhood leukemia NANDO:2100002 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Leukemia +MONDO:0004425 hyperthyroidism NANDO:2100119 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hyperthyroidism +MONDO:0004425 hyperthyroidism NANDO:2200329 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hyperthyroidism +MONDO:0004471 bacterial arthritis NANDO:2200437 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pyogenic arthritis, pyoderma gangrenosum, acne syndrome +MONDO:0004591 impetigo herpetiformis NANDO:1200243 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Impetigo herpetiformis +MONDO:0004691 autosomal dominant polycystic kidney disease NANDO:1200368 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autosomal dominant polycystic kidney disease +MONDO:0004691 autosomal dominant polycystic kidney disease NANDO:2200153 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autosomal dominant polycystic kidney disease +MONDO:0004737 homocystinuria NANDO:1201038 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Homocystinuria +MONDO:0004737 homocystinuria NANDO:2200474 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Homocystinuria +MONDO:0004739 urea cycle disorder NANDO:1200802 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Urea cycle disorder +MONDO:0004782 diabetes insipidus NANDO:2100117 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Diabetes insipidus +MONDO:0004822 bronchiectasis NANDO:2100036 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Bronchiectasis +MONDO:0004822 bronchiectasis NANDO:2200206 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Bronchiectasis +MONDO:0004890 partial central choroid dystrophy NANDO:1200939 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Central areolar choroidal dystrophy +MONDO:0004933 hypoplastic left heart syndrome NANDO:1200705 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypoplastic left heart syndrome +MONDO:0004933 hypoplastic left heart syndrome NANDO:2100071 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypoplastic left heart syndrome +MONDO:0004933 hypoplastic left heart syndrome NANDO:2200249 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypoplastic left heart syndrome +MONDO:0004952 Hodgkins lymphoma NANDO:2200024 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hodgkin lymphoma +MONDO:0004955 obsolete metabolic syndrome NANDO:1100002 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Metabolic disease +MONDO:0004963 T-cell acute lymphoblastic leukemia NANDO:2200003 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO T-cell lymphoblastic leukemia +MONDO:0004964 peripheral T-cell lymphoma, not otherwise specified NANDO:2200028 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Peripheral T-cell lymphoma, not otherwise specified +MONDO:0004974 adrenal gland pheochromocytoma NANDO:2200078 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pheochromocytoma +MONDO:0004976 amyotrophic lateral sclerosis NANDO:1200002 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Amyotrophic lateral sclerosis +MONDO:0004977 angioimmunoblastic T-cell lymphoma NANDO:2200029 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Angioimmunoblastic T-cell lymphoma +MONDO:0004978 obsolete aortic stenosis NANDO:2100098 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aortic stenosis +MONDO:0004981 atrial fibrillation NANDO:2100051 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Atrial fibrillation +MONDO:0004981 atrial fibrillation NANDO:2200226 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Atrial fibrillation +MONDO:0004995 cardiovascular disorder NANDO:1100005 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cardiovascular disease +MONDO:0004997 chondroblastoma NANDO:2200051 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chondroblastoma +MONDO:0005006 clear cell sarcoma of kidney NANDO:2200044 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Clear cell sarcoma of the kidney +MONDO:0005011 Crohn disease NANDO:1200444 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Crohn's disease +MONDO:0005011 Crohn disease NANDO:1200446 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Colonic Crohn's disease +MONDO:0005011 Crohn disease NANDO:2200921 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Crohn's disease +MONDO:0005015 diabetes mellitus NANDO:2100157 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Diabetes +MONDO:0005015 diabetes mellitus NANDO:2100158 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Diabetes +MONDO:0005021 dilated cardiomyopathy NANDO:2100057 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dilated cardiomyopathy +MONDO:0005021 dilated cardiomyopathy NANDO:2200232 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dilated cardiomyopathy +MONDO:0005029 essential thrombocythemia NANDO:2100194 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Essential thrombocythemia +MONDO:0005029 essential thrombocythemia NANDO:2200655 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Essential thrombocythemia +MONDO:0005035 ganglioneuroblastoma NANDO:2200041 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ganglioneuroblastoma +MONDO:0005045 hypertrophic cardiomyopathy NANDO:1200286 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypertrophic cardiomyopathy +MONDO:0005045 hypertrophic cardiomyopathy NANDO:1200288 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypertrophic obstructive cardiomyopathy +MONDO:0005045 hypertrophic cardiomyopathy NANDO:2100054 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypertrophic cardiomyopathy +MONDO:0005045 hypertrophic cardiomyopathy NANDO:2200229 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypertrophic cardiomyopathy +MONDO:0005045 hypertrophic cardiomyopathy NANDO:2201042 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypertrophic obstructive cardiomyopathy +MONDO:0005046 immune system disorder NANDO:1100004 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Immune system disease +MONDO:0005046 immune system disorder NANDO:2100202 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Immune system disease +MONDO:0005058 leiomyosarcoma NANDO:2200064 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Leiomyosarcoma +MONDO:0005059 leukemia NANDO:2100002 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Leukemia +MONDO:0005060 liposarcoma NANDO:2200065 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Liposarcoma +MONDO:0005062 lymphoma NANDO:2100004 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lymphoma +MONDO:0005066 metabolic disease NANDO:1100002 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Metabolic disease +MONDO:0005068 myocardial infarction NANDO:2200248 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myocardial infarction +MONDO:0005072 neuroblastoma NANDO:2200040 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neuroblastoma +MONDO:0005086 renal cell carcinoma NANDO:2200045 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Renal cell carcinoma +MONDO:0005087 respiratory system disorder NANDO:1100010 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Respiratory disease +MONDO:0005093 skin disorder NANDO:2100281 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Skin disease +MONDO:0005100 systemic sclerosis NANDO:1200277 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Systemic sclerosis +MONDO:0005100 systemic sclerosis NANDO:2200429 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Systemic sclerosis +MONDO:0005101 ulcerative colitis NANDO:1200449 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ulcerative colitis +MONDO:0005101 ulcerative colitis NANDO:2200920 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ulcerative colitis +MONDO:0005102 undifferentiated (embryonal) sarcoma NANDO:2200058 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Undifferentiated sarcoma +MONDO:0005105 melanoma NANDO:2200077 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Malignant melanoma +MONDO:0005109 HIV infectious disease NANDO:2200810 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO HIV infection +MONDO:0005147 type 1 diabetes mellitus NANDO:2200460 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Diabetes mellitus type 1 +MONDO:0005148 type 2 diabetes mellitus NANDO:2200461 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Diabetes mellitus type 2 +MONDO:0005151 endocrine system disorder NANDO:1100009 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Endocrine disease +MONDO:0005151 endocrine system disorder NANDO:2100109 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Endocrine disease +MONDO:0005152 hypopituitarism NANDO:1200387 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypopituitarism syndrome +MONDO:0005152 hypopituitarism NANDO:2100110 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypopituitarism +MONDO:0005155 cirrhosis of liver NANDO:2100268 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Liver cirrhosis +MONDO:0005155 cirrhosis of liver NANDO:2200937 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Liver cirrhosis +MONDO:0005160 aortic aneurysm NANDO:2100101 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aortic aneurysm +MONDO:0005160 aortic aneurysm NANDO:2200294 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aortic aneurysm +MONDO:0005164 fibrosarcoma NANDO:2200060 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fibrosarcoma +MONDO:0005180 Parkinson disease NANDO:1200010 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Parkinson's disease +MONDO:0005181 progressive external ophthalmoplegia NANDO:1200174 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic progressive external ophthalmoplegia +MONDO:0005201 restrictive cardiomyopathy NANDO:1200292 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Restrictive cardiomyopathy +MONDO:0005201 restrictive cardiomyopathy NANDO:1200293 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Idiopathic restrictive cardiomyopathy +MONDO:0005201 restrictive cardiomyopathy NANDO:2100058 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Restrictive cardiomyopathy +MONDO:0005201 restrictive cardiomyopathy NANDO:2200233 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Restrictive cardiomyopathy +MONDO:0005204 primary antiphospholipid syndrome NANDO:1200267 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Primary antiphospholipid antibody syndrome +MONDO:0005207 choriocarcinoma NANDO:2200070 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Choriocarcinoma +MONDO:0005212 rhabdomyosarcoma NANDO:2200056 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Rhabdomyosarcoma +MONDO:0005223 acute myeloid leukemia with minimal differentiation NANDO:2200004 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acute myeloid leukemia with minimal differentiation +MONDO:0005224 acute myeloblastic leukemia without maturation NANDO:2200005 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acute myeloid leukemia without maturation +MONDO:0005265 inflammatory bowel disease NANDO:2100259 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Inflammatory bowel disease +MONDO:0005300 chronic kidney disease NANDO:2100008 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic kidney disease +MONDO:0005300 chronic kidney disease NANDO:2100023 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic renal failure +MONDO:0005301 multiple sclerosis NANDO:1200023 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Multiple sclerosis +MONDO:0005301 multiple sclerosis NANDO:2100250 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Multiple sclerosis +MONDO:0005301 multiple sclerosis NANDO:2200904 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Multiple sclerosis +MONDO:0005306 ankylosing spondylitis NANDO:1200870 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ankylosing spondylitis +MONDO:0005310 atrial flutter NANDO:2100050 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Atrial flutter +MONDO:0005310 atrial flutter NANDO:2200218 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Multiple atrial tachycardia +MONDO:0005310 atrial flutter NANDO:2200225 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Atrial flutter +MONDO:0005314 relapsing-remitting multiple sclerosis NANDO:1200024 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Relapsing-remitting multiple sclerosis +MONDO:0005314 relapsing-remitting multiple sclerosis NANDO:2201319 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Relapsing-remitting multiple sclerosis +MONDO:0005342 IgA glomerulonephritis NANDO:1200366 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO IgA nephropathy +MONDO:0005342 IgA glomerulonephritis NANDO:2200121 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO IgA nephropathy +MONDO:0005361 eosinophilic esophagitis NANDO:1200456 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Eosinophilic esophagitis +MONDO:0005363 inherited focal segmental glomerulosclerosis NANDO:1200722 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Focal segmental glomerulosclerosis +MONDO:0005363 inherited focal segmental glomerulosclerosis NANDO:2200113 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Focal segmental glomerulosclerosis +MONDO:0005364 Graves disease NANDO:2200328 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Basedow disease +MONDO:0005369 carcinoid tumor NANDO:2200396 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Carcinoid syndrome +MONDO:0005376 membranous glomerulonephritis NANDO:1200721 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Membranous nephropathy +MONDO:0005376 membranous glomerulonephritis NANDO:2200114 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Membranous nephropathy +MONDO:0005377 nephrotic syndrome NANDO:2100009 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Nephrotic syndrome +MONDO:0005381 bone disorder NANDO:2100291 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Bone disease +MONDO:0005381 bone disorder NANDO:2100293 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Bone disease +MONDO:0005385 vascular disorder NANDO:2100294 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Vascular disease +MONDO:0005387 primary ovarian failure NANDO:2100139 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypergonadotropic hypogonadism +MONDO:0005388 primary biliary cholangitis NANDO:1200439 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Primary biliary cholangitis +MONDO:0005420 hypothyroidism NANDO:2100120 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypothyroidism +MONDO:0005429 prion disease NANDO:1200186 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Prion disease +MONDO:0005437 testicular dysgenesis syndrome NANDO:2200383 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Testicular dysgenesis +MONDO:0005439 familial hypercholesterolemia NANDO:2200602 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Familial hypercholesterolemia +MONDO:0005440 embryonal carcinoma NANDO:2200067 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Embryonal carcinoma +MONDO:0005477 ventricular tachycardia NANDO:2100049 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ventricular tachycardia +MONDO:0005479 atrial tachycardia NANDO:2200218 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Multiple atrial tachycardia +MONDO:0005508 hereditary multiple osteochondromas NANDO:2200049 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Osteochondromatosis +MONDO:0005508 hereditary multiple osteochondromas NANDO:2201014 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Multiple cartilaginous exostosis +MONDO:0005508 hereditary multiple osteochondromas NANDO:2201015 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Enchondromatosis +MONDO:0005532 Crohn's colitis NANDO:1200446 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Colonic Crohn's disease +MONDO:0005533 distal colitis NANDO:1200451 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Left-sided colitis +MONDO:0005534 ileocolitis NANDO:1200447 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Crohn ileocolitis +MONDO:0005536 pancolitis NANDO:1200450 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pan-ulcerative colitis +MONDO:0005539 small bowel Crohn disease NANDO:1200445 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO small bowel Crohn disease +MONDO:0005549 renal cell adenocarcinoma NANDO:2200045 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Renal cell carcinoma +MONDO:0005554 rheumatic disorder NANDO:2100151 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Collagen disease +MONDO:0005554 rheumatic disorder NANDO:2100152 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Collagen disease +MONDO:0005556 lupus nephritis NANDO:2200128 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lupus nephritis +MONDO:0005570 hematologic disorder NANDO:1100006 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Blood disease +MONDO:0005570 hematologic disorder NANDO:2100175 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Blood disease +MONDO:0005624 atrophic thyroiditis NANDO:2200336 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Atrophic thyroiditis +MONDO:0005648 aortic valve insufficiency NANDO:2200307 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aortic valve regurgitation +MONDO:0005711 congenital diaphragmatic hernia NANDO:1200911 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital diaphragmatic hernia +MONDO:0005711 congenital diaphragmatic hernia NANDO:2100040 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital diaphragmatic hernia +MONDO:0005711 congenital diaphragmatic hernia NANDO:2200210 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital diaphragmatic hernia +MONDO:0005713 obsolete MONDO:0005713 NANDO:2200890 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital rubella syndrome +MONDO:0005715 congenital toxoplasmosis NANDO:2200892 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital toxoplasmosis +MONDO:0005744 yolk sac tumor NANDO:2200069 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Yolk sac tumour +MONDO:0005764 follicular dendritic cell sarcoma NANDO:2200034 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Follicular dendritic cell sarcoma +MONDO:0005775 G6PD deficiency NANDO:2200627 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glucose-6-phosphate dehydrogenase deficiency +MONDO:0005803 hyperinsulinemic hypoglycemia NANDO:2100143 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hyperinsulinemic hypoglycemia +MONDO:0005803 hyperinsulinemic hypoglycemia NANDO:2200399 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital hyperinsulinemia +MONDO:0005804 hyperprolactinemia NANDO:2100115 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hyperprolactinemia +MONDO:0005804 hyperprolactinemia NANDO:2200322 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hyperprolactinemia +MONDO:0005810 infectious mononucleosis NANDO:1200668 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pfeiffer syndrome +MONDO:0005810 infectious mononucleosis NANDO:2200976 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pfeiffer syndrome +MONDO:0005813 interdigitating dendritic cell sarcoma NANDO:2200035 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Interdigitating dendritic cell sarcoma +MONDO:0005827 lipoatrophic diabetes NANDO:2200465 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lipoatrophic diabetes +MONDO:0005852 mitral valve stenosis NANDO:1200963 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital mitral stenosis +MONDO:0005852 mitral valve stenosis NANDO:2200302 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mitral valve stenosis +MONDO:0005854 mixed connective tissue disease NANDO:1200278 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mixed connective tissue disease +MONDO:0005854 mixed connective tissue disease NANDO:2200430 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mixed connective tissue disease +MONDO:0005965 spinal stenosis NANDO:1200372 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Coexisting cervical and lumbar spinal stenosis +MONDO:0005997 tricuspid valve stenosis NANDO:2200300 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tricuspid valve stenosis +MONDO:0006007 vesicoureteral reflux NANDO:2200179 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Vesicoureteral reflux +MONDO:0006055 sex cord-stromal tumor NANDO:2200072 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sex-cord stromal tumour +MONDO:0006238 growth hormone-producing pituitary gland adenoma NANDO:1200385 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Growth hormone secreting pituitary adenoma +MONDO:0006238 growth hormone-producing pituitary gland adenoma NANDO:1200386 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Diencephalo-hypophysial dysfunction-syndrome of abnormal secretion of growth hormone +MONDO:0006287 malignancy in giant cell tumor of bone NANDO:2200052 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Malignancy in giant cell tumour of bone +MONDO:0006373 pituitary gland adenoma NANDO:2200095 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pituitary adenoma +MONDO:0006412 sinus histiocytosis with massive lymphadenopathy NANDO:2200039 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Rosai-Dorfman disease +MONDO:0006444 teratoma with malignant transformation NANDO:2200107 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Teratoma with malignant transformation +MONDO:0006451 thymic carcinoma NANDO:2200079 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Malignant thymoma +MONDO:0006536 congenital generalized lipodystrophy NANDO:1200859 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Generalized congenital lipodystrophy +MONDO:0006541 epidermolysis bullosa NANDO:1200234 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Epidermolysis bullosa +MONDO:0006541 epidermolysis bullosa NANDO:2100284 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Epidermolysis bullosa +MONDO:0006541 epidermolysis bullosa NANDO:2201000 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Epidermolysis bullosa +MONDO:0006573 lipodystrophy NANDO:1200858 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lipodystrophy +MONDO:0006573 lipodystrophy NANDO:2100147 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lipodystrophy +MONDO:0006573 lipodystrophy NANDO:2200404 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lipodystrophy +MONDO:0006594 pemphigus NANDO:1200228 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pemphigus +MONDO:0006639 adrenal cortex carcinoma NANDO:2200073 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Adrenocortical carcinoma +MONDO:0006656 aortitis NANDO:1200251 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Takayasu arteritis +MONDO:0006656 aortitis NANDO:2200423 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Takayasu arteritis +MONDO:0006657 obsolete apparent mineralocorticoid excess syndrome NANDO:2100130 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Apparent mineralocorticoid excess syndrome +MONDO:0006657 obsolete apparent mineralocorticoid excess syndrome NANDO:2200362 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Apparent mineralocorticoid excess syndrome +MONDO:0006664 atrial septal defect NANDO:2100085 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Atrial septal defect +MONDO:0006689 obsolete carcinoid syndrome NANDO:2200396 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Carcinoid syndrome +MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy NANDO:1200030 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic inflammatory demyelinating polyneuropathy +MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy NANDO:2100251 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic inflammatory demyelinating polyneuropathy +MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy NANDO:2200905 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic inflammatory demyelinating polyneuropathy +MONDO:0006711 constrictive pericarditis NANDO:2100064 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Constrictive pericarditis +MONDO:0006711 constrictive pericarditis NANDO:2200239 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Constrictive pericarditis +MONDO:0006715 coronary stenosis NANDO:2200246 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Stenosis or atresia of coronary artery +MONDO:0006779 heart aneurysm NANDO:2200234 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aneurysm of ventricle +MONDO:0006785 obsolete Henoch-Schoenlein purpura NANDO:1200741 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Henoch-Schonlein purpura nephritis +MONDO:0006795 hypersplenism NANDO:2200637 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypersplenism +MONDO:0006802 inappropriate ADH syndrome NANDO:1200376 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Syndrome of inappropriate secretion of antidiuretic hormone +MONDO:0006802 inappropriate ADH syndrome NANDO:2100116 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Syndrome of inappropriate secretion of antidiuretic hormone +MONDO:0006802 inappropriate ADH syndrome NANDO:2200323 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Syndrome of inappropriate secretion of antidiuretic hormone +MONDO:0006823 Klinefelter syndrome NANDO:2200386 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Klinefelter syndrome +MONDO:0006835 lipoid nephrosis NANDO:1200720 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Minimal change nephrotic syndrome +MONDO:0006835 lipoid nephrosis NANDO:2200112 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Minimal change nephrotic syndrome +MONDO:0006935 pulmonary subvalvular stenosis NANDO:2100092 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Subvalvular pulmonary stenosis +MONDO:0006935 pulmonary subvalvular stenosis NANDO:2200276 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Subvalvular pulmonary stenosis +MONDO:0006936 pulmonary valve stenosis NANDO:2200304 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pulmonary valve stenosis +MONDO:0006947 renovascular hypertension NANDO:2100016 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Renovascular hypertension +MONDO:0006947 renovascular hypertension NANDO:2200141 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Renovascular hypertension +MONDO:0006987 subvalvular aortic stenosis NANDO:2100093 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Subvalvular aortic stenosis +MONDO:0006987 subvalvular aortic stenosis NANDO:2200277 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Subvalvular aortic stenosis +MONDO:0007012 variant Creutzfeldt-Jakob disease NANDO:1200194 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Variant Creutzfeldt-Jakob disease +MONDO:0007029 branchio-oto-renal syndrome NANDO:1200675 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Branchio-oto-renal syndrome +MONDO:0007032 prune belly syndrome NANDO:2200185 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Prune belly syndrome +MONDO:0007037 Achondroplasia NANDO:1200877 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Achondroplasia +MONDO:0007037 Achondroplasia NANDO:2201009 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Achondroplasia +MONDO:0007039 neurofibromatosis type 2 NANDO:1200227 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neurofibromatosis type 2 +MONDO:0007041 Apert syndrome NANDO:1200667 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Apert syndrome +MONDO:0007041 Apert syndrome NANDO:2200844 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Apert syndrome +MONDO:0007042 Saethre-Chotzen syndrome NANDO:2200848 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Saethre-Chotzen syndrome +MONDO:0007043 Pfeiffer syndrome NANDO:1200668 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pfeiffer syndrome +MONDO:0007043 Pfeiffer syndrome NANDO:2200976 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pfeiffer syndrome +MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency NANDO:1200323 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Adenosine deaminase deficiency +MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency NANDO:2200696 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Adenosine deaminase deficiency +MONDO:0007078 Pseudohypoparathyroidism type 1A NANDO:1201075 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pseudohypoparathyroidism type 1A +MONDO:0007097 Finnish type amyloidosis NANDO:1201063 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Familial amyloid polyneuropathy type 4 +MONDO:0007099 familial visceral amyloidosis NANDO:2200138 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Amyloid nephropathy +MONDO:0007100 familial amyloid neuropathy NANDO:1200214 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Familial amyloid polyneuropathy +MONDO:0007100 familial amyloid neuropathy NANDO:1201060 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Familial amyloid polyneuropathy type 1 +MONDO:0007109 congenital dyserythropoietic anemia type 3 NANDO:1200888 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital dyserythropoietic anemia type III +MONDO:0007113 Angelman syndrome NANDO:1200686 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Angelman syndrome +MONDO:0007113 Angelman syndrome NANDO:2200960 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Angelman syndrome +MONDO:0007130 congenital total pulmonary venous return anomaly NANDO:2200271 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Total anomalous pulmonary venous connection +MONDO:0007140 obsolete antiphospholipid syndrome NANDO:1200271 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Antiphospholipid antibody-related disease +MONDO:0007140 obsolete antiphospholipid syndrome NANDO:2200421 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Anti-phospholipid antibody syndrome +MONDO:0007154 arteriovenous malformations of the brain NANDO:2100229 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cerebral arteriovenous malformation +MONDO:0007154 arteriovenous malformations of the brain NANDO:2200851 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cerebral arteriovenous malformation +MONDO:0007160 Stickler syndrome type 1 NANDO:2201354 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Stickler syndrome type 1 +MONDO:0007182 Machado-Joseph disease NANDO:1200041 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Spinocerebellar ataxia type 3 +MONDO:0007187 nevoid basal cell carcinoma syndrome NANDO:2200828 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Gorlin syndrome +MONDO:0007191 Behcet disease NANDO:1200284 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Behcet's disease +MONDO:0007191 Behcet disease NANDO:2200422 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Behcet's disease +MONDO:0007203 blue rubber bleb nevus NANDO:2201027 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Blue rubber bleb nevus syndrome +MONDO:0007256 hepatocellular carcinoma NANDO:2200047 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hepatocellular carcinoma +MONDO:0007294 central core myopathy NANDO:1200479 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Central core disease +MONDO:0007294 central core myopathy NANDO:2200870 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Central core disease +MONDO:0007296 spinocerebellar ataxia type 31 NANDO:1200044 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Spinocerebellar ataxia type 31 +MONDO:0007315 cherubism NANDO:2200444 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cherubism +MONDO:0007318 Alagille syndrome NANDO:1200918 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Alagille syndrome +MONDO:0007318 Alagille syndrome NANDO:1200919 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Typical Alagille syndrome +MONDO:0007318 Alagille syndrome NANDO:2200931 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Alagille syndrome +MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type NANDO:2201359 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chondrodysplasia punctata, tibial-metacarpal type +MONDO:0007326 obsolete paroxysmal nonkinesigenic dyskinesia 1 NANDO:1200519 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dystonia 8 +MONDO:0007345 aorta coarctation NANDO:2200283 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Coarctation of the aorta +MONDO:0007345 aorta coarctation NANDO:2200284 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Coarctation complex +MONDO:0007361 C1 inhibitor deficiency NANDO:1200365 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary angioedema +MONDO:0007361 C1 inhibitor deficiency NANDO:2200795 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary angioedema +MONDO:0007363 congenital contractural arachnodactyly NANDO:2201026 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Beals syndrome +MONDO:0007369 hereditary coproporphyria NANDO:1200813 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary coproporphyria +MONDO:0007369 hereditary coproporphyria NANDO:2201264 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary coproporphyria +MONDO:0007403 inherited Creutzfeldt-Jakob disease NANDO:1200189 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Familial Creutzfeldt-Jakob disease +MONDO:0007404 Cri-du-chat syndrome NANDO:1200684 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 5p deletion syndrome +MONDO:0007404 Cri-du-chat syndrome NANDO:2200961 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 5p- syndrome +MONDO:0007405 Crouzon syndrome NANDO:1200666 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Crouzon's syndrome +MONDO:0007405 Crouzon syndrome NANDO:2200845 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Crouzon disease +MONDO:0007414 Gorham-Stout disease NANDO:1200878 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lymphangiomatosis / Gorham-Stout disease +MONDO:0007414 Gorham-Stout disease NANDO:1200880 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO obsolete Gorham disease +MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy NANDO:1200545 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy +MONDO:0007435 dentatorubral-pallidoluysian atrophy NANDO:1200043 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dentatorubropallidoluysian atrophy +MONDO:0007450 neurohypophyseal diabetes insipidus NANDO:2201050 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Familial central diabetes insipidus +MONDO:0007452 maturity-onset diabetes of the young type 1 NANDO:2200461 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Diabetes mellitus type 2 +MONDO:0007452 maturity-onset diabetes of the young type 1 NANDO:2201069 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Maturity-onset diabetes of the young type 1 +MONDO:0007453 maturity-onset diabetes of the young type 2 NANDO:2201070 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Maturity-onset diabetes of the young type 2 +MONDO:0007492 early-onset generalized limb-onset dystonia NANDO:1200512 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dystonia 1 +MONDO:0007492 early-onset generalized limb-onset dystonia NANDO:2100240 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dystonia musculorum deformans +MONDO:0007492 early-onset generalized limb-onset dystonia NANDO:2200884 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dystonia musculorum deformans +MONDO:0007493 torsion dystonia 4 NANDO:1200515 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dystonia 4 +MONDO:0007494 obsolete episodic kinesigenic dyskinesia 1 NANDO:1200521 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dystonia 10 +MONDO:0007495 dystonia 5 NANDO:1200516 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dystonia 5 +MONDO:0007496 dystonia 12 NANDO:1200523 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dystonia 12 +MONDO:0007496 dystonia 12 NANDO:1200524 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Rapid-onset dystonia-parkinsonism +MONDO:0007522 Ehlers-Danlos syndrome, classic type NANDO:1200646 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ehlers-Danlos syndrome, classical type +MONDO:0007522 Ehlers-Danlos syndrome, classic type NANDO:2201256 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ehlers-Danlos syndrome, classical type +MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type NANDO:1200647 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ehlers-Danlos syndrome, hypermobility type +MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type NANDO:2201257 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ehlers-Danlos syndrome, hypermobility type +MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type NANDO:1200650 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ehlers-Danlos syndrome, arthrochalasis type +MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type NANDO:2201260 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ehlers-Danlos syndrome, arthrochalasis type +MONDO:0007534 Beckwith-Wiedemann syndrome NANDO:2200959 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Beckwith-Wiedemann syndrome +MONDO:0007540 multiple endocrine neoplasia type 1 NANDO:2200405 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Multiple endocrine neoplasia type 1 +MONDO:0007542 Camurati-Engelmann disease NANDO:2200970 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Camurati-Engelmann disease +MONDO:0007606 fibrodysplasia ossificans progressiva NANDO:1200871 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fibrodysplasia ossificans progressiva +MONDO:0007606 fibrodysplasia ossificans progressiva NANDO:2201020 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fibrodysplasia ossificans progressiva +MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome NANDO:1200190 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Gerstmann-Straussler-Scheinker syndrome +MONDO:0007669 renal cysts and diabetes syndrome NANDO:2201073 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Maturity-onset diabetes of the young type 5 +MONDO:0007671 fibronectin glomerulopathy NANDO:2200133 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glomerulopathy with fibronectin deposits, fibronectin nephropathy +MONDO:0007691 Guillain-Barre syndrome, familial NANDO:1200030 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic inflammatory demyelinating polyneuropathy +MONDO:0007691 Guillain-Barre syndrome, familial NANDO:2100251 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic inflammatory demyelinating polyneuropathy +MONDO:0007691 Guillain-Barre syndrome, familial NANDO:2200905 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic inflammatory demyelinating polyneuropathy +MONDO:0007699 Hashimoto thyroiditis NANDO:2200335 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hashimoto disease +MONDO:0007708 Kasabach-Merritt syndrome NANDO:2100297 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Kasabach-Merritt syndrome +MONDO:0007708 Kasabach-Merritt syndrome NANDO:2201035 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Kasabach-Merritt syndrome +MONDO:0007727 autosomal dominant familial periodic fever NANDO:1200472 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO TNF receptor-associated periodic fever syndrome +MONDO:0007727 autosomal dominant familial periodic fever NANDO:2200433 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO TNF receptor-associated periodic fever syndrome +MONDO:0007739 Huntington disease NANDO:1200012 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Huntington's disease +MONDO:0007741 congenital hydronephrosis NANDO:2200176 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ureteropelvic junction obstruction +MONDO:0007750 hypercholesterolemia, familial, 1 NANDO:2200602 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Familial hypercholesterolemia +MONDO:0007793 hypochondroplasia NANDO:2201010 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypochondroplasia +MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia NANDO:1200382 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Idiopathic hypogonadotropic hypogonadism +MONDO:0007803 multiple system atrophy NANDO:1200034 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Multiple system atrophy +MONDO:0007813 superficial epidermolytic ichthyosis NANDO:1200613 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Superficial epidermolytic ichthyosis +MONDO:0007813 superficial epidermolytic ichthyosis NANDO:2200990 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Superficial epidermolytic ichthyosis +MONDO:0007827 inclusion body myositis NANDO:1200032 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sporadic inclusion body myositis +MONDO:0007827 inclusion body myositis NANDO:1200218 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Distal myopathy with rimmed vacuoles +MONDO:0007864 angioosteohypertrophic syndrome NANDO:1200884 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Klippel-Trenaunay-Weber syndrome +MONDO:0007864 angioosteohypertrophic syndrome NANDO:2201030 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Klippel-Trenaunay-Weber syndrome +MONDO:0007875 Larsen syndrome NANDO:2201019 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Larsen syndrome +MONDO:0007879 larynx atresia NANDO:2200190 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Laryngeal stenosis +MONDO:0007895 platyspondylic dysplasia, Torrance type NANDO:2201347 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Platyspondylic dysplasia, Torrance type +MONDO:0007896 acute monocytic leukemia NANDO:2200008 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acute monocytic leukemia +MONDO:0007896 acute monocytic leukemia NANDO:2200009 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acute monocytic leukemia +MONDO:0007915 systemic lupus erythematosus NANDO:1200272 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Systemic lupus erythematosus +MONDO:0007915 systemic lupus erythematosus NANDO:2200416 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Systemic lupus erythematosus +MONDO:0007947 Marfan syndrome NANDO:1200644 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Marfan syndrome +MONDO:0007947 Marfan syndrome NANDO:2200968 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Marfan syndrome +MONDO:0007954 obsolete May-Hegglin anomaly NANDO:1200893 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Epstein syndrome +MONDO:0007954 obsolete May-Hegglin anomaly NANDO:2100193 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO May-Hegglin anomaly +MONDO:0007954 obsolete May-Hegglin anomaly NANDO:2200127 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Epstein syndrome +MONDO:0007954 obsolete May-Hegglin anomaly NANDO:2200654 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO May-Hegglin anomaly +MONDO:0007959 medulloblastoma NANDO:2200090 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Medulloblastoma +MONDO:0007960 obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome NANDO:1200459 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Megacystis-microcolon-intestinal hypoperistalsis syndrome +MONDO:0007960 obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome NANDO:2200947 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Megacystis-microcolon-intestinal hypoperistalsis syndrome +MONDO:0007970 melorheostosis NANDO:2201364 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Melorheostosis +MONDO:0007987 Kniest dysplasia NANDO:2201350 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Kniest dysplasia +MONDO:0008006 Mobius syndrome NANDO:1200559 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Moebius syndrome +MONDO:0008006 Mobius syndrome NANDO:2200980 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Moebius syndrome +MONDO:0008029 Bethlem myopathy NANDO:1200220 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Bethlem Myopathy +MONDO:0008039 tropical spastic paraparesis NANDO:1200206 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO HTLV-1-associated myelopathy +MONDO:0008054 juvenile dermatomyositis NANDO:2200418 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Juvenile dermatomyositis +MONDO:0008061 nail-patella syndrome NANDO:1200967 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Nail-patella syndrome +MONDO:0008061 nail-patella syndrome NANDO:2200132 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Nail-patella syndrome +MONDO:0008082 multiple endocrine neoplasia type 2B NANDO:2201053 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Multiple endocrine neoplasia type 2B +MONDO:0008090 cyclic hematopoiesis NANDO:1200354 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cyclic neutropenia +MONDO:0008090 cyclic hematopoiesis NANDO:2200746 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cyclic neutropenia +MONDO:0008116 oculopharyngeal muscular dystrophy NANDO:1200493 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Oculopharyngeal muscular dystrophy +MONDO:0008119 spinocerebellar ataxia type 1 NANDO:1200045 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Spinocerebellar ataxia type 1 +MONDO:0008120 obsolete spinocerebellar ataxia type 7 NANDO:1200047 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Spinocerebellar ataxia type 7 +MONDO:0008145 Ollier disease NANDO:2200049 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Osteochondromatosis +MONDO:0008145 Ollier disease NANDO:2201015 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Enchondromatosis +MONDO:0008185 hereditary chronic pancreatitis NANDO:1200921 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary pancreatitis +MONDO:0008185 hereditary chronic pancreatitis NANDO:2200942 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary pancreatitis +MONDO:0008195 paramyotonia congenita of Von Eulenburg NANDO:1200501 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Paramyotonia congenita +MONDO:0008201 Perry syndrome NANDO:1200547 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Perry syndrome +MONDO:0008218 Hailey-Hailey disease NANDO:1200631 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Benign familial pemphigus +MONDO:0008219 pemphigus vulgaris NANDO:1200229 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pemphigus vulgaris +MONDO:0008221 prolidase deficiency NANDO:2200472 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Prolidase deficiency +MONDO:0008222 Andersen-Tawil syndrome NANDO:1200827 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage diseases type IV +MONDO:0008223 hypokalemic periodic paralysis NANDO:1200503 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary hypokalemic periodic paralysis +MONDO:0008224 hyperkalemic periodic paralysis NANDO:1200504 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary hyperkalemic periodic paralysis +MONDO:0008234 multiple endocrine neoplasia type 2A NANDO:2200406 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Multiple endocrine neoplasia type 2 +MONDO:0008234 multiple endocrine neoplasia type 2A NANDO:2201052 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Multiple endocrine neoplasia type 2A +MONDO:0008260 Kindler syndrome NANDO:1200239 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Kindler syndrome +MONDO:0008280 Peutz-Jeghers syndrome NANDO:2200917 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Peutz-Jeghers syndrome +MONDO:0008283 Cronkhite-Canada syndrome NANDO:1200901 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cronkhite-Canada syndrome +MONDO:0008294 acute intermittent porphyria NANDO:1200812 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acute intermittent porphyria +MONDO:0008294 acute intermittent porphyria NANDO:2201263 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acute intermittent porphyria +MONDO:0008297 variegate porphyria NANDO:1200814 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Variegate porphyria +MONDO:0008297 variegate porphyria NANDO:2201265 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Variegate porphyria +MONDO:0008300 Prader-Willi syndrome NANDO:1200678 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Prader-Willi syndrome +MONDO:0008300 Prader-Willi syndrome NANDO:2200411 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Prader-Willi syndrome +MONDO:0008310 Hutchinson-Gilford progeria syndrome NANDO:1201007 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hutchinson-Gilford syndrome +MONDO:0008310 Hutchinson-Gilford progeria syndrome NANDO:2200833 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hutchinson-Gilford syndrome +MONDO:0008319 protoporphyria, erythropoietic, 1 NANDO:1200815 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Erythropoietic protoporphyria +MONDO:0008319 protoporphyria, erythropoietic, 1 NANDO:2201266 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Erythropoietic protoporphyria +MONDO:0008322 pseudoachondroplasia NANDO:2201018 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pseudoachondroplasia +MONDO:0008323 Liddle syndrome NANDO:2100131 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Liddle syndrome +MONDO:0008323 Liddle syndrome NANDO:2200363 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Liddle syndrome +MONDO:0008332 platelet-type von Willebrand disease NANDO:2200668 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Platelet-type von Willebrand disease +MONDO:0008343 pulmonary atresia with ventricular septal defect NANDO:1200708 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pulmonary atresia with ventricular septal defect +MONDO:0008343 pulmonary atresia with ventricular septal defect NANDO:2200252 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pulmonary atresia with ventricular septal defect +MONDO:0008345 obsolete idiopathic pulmonary fibrosis NANDO:1200417 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Idiopathic pulmonary fibrosis +MONDO:0008346 pulmonary hemosiderosis NANDO:1200751 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Alveolar hypoventilation syndrome +MONDO:0008346 pulmonary hemosiderosis NANDO:2100037 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Idiopathic pulmonary hemosiderosis +MONDO:0008346 pulmonary hemosiderosis NANDO:2200207 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Idiopathic pulmonary hemosiderosis +MONDO:0008367 red cell phospholipid defect with hemolysis NANDO:2200634 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Xerocytosis with high phosphatidylcholine hemolytic anemia +MONDO:0008380 retinoblastoma NANDO:2200042 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Retinoblastoma +MONDO:0008428 septooptic dysplasia NANDO:1200560 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Septo-optic dysplasia / De Morsier syndrome +MONDO:0008428 septooptic dysplasia NANDO:1200561 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Septo-optic dysplasia +MONDO:0008428 septooptic dysplasia NANDO:2200820 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Septo-optic dysplasia +MONDO:0008434 Smith-Magenis syndrome NANDO:1200687 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Smith-Magenis syndrome +MONDO:0008434 Smith-Magenis syndrome NANDO:2200954 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Smith-Magenis syndrome +MONDO:0008457 spinocerebellar ataxia type 6 NANDO:1200042 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Spinocerebellar ataxia type 6 +MONDO:0008458 spinocerebellar ataxia type 2 NANDO:1200046 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Spinocerebellar ataxia type 2 +MONDO:0008471 spondyloepiphyseal dysplasia congenita NANDO:2201348 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Spondyloepiphyseal dysplasia congenita +MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type NANDO:2201349 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Spondyloepimetaphyseal dysplasia, Strudwick type +MONDO:0008487 polycystic ovary syndrome NANDO:2100149 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Polycystic ovary syndrome +MONDO:0008487 polycystic ovary syndrome NANDO:2200409 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Polycystic ovary syndrome +MONDO:0008501 Sturge-Weber syndrome NANDO:1200606 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sturge-Weber syndrome +MONDO:0008501 Sturge-Weber syndrome NANDO:2200830 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sturge-Weber syndrome +MONDO:0008503 Worster-Drought syndrome NANDO:1200558 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital suprabulbar paresis +MONDO:0008504 supravalvular aortic stenosis NANDO:2200285 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Supravalvular aortic stenosis +MONDO:0008523 Blau syndrome NANDO:1200476 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Blau syndrome +MONDO:0008523 Blau syndrome NANDO:2200434 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Blau syndrome, early onset sarcoidosis +MONDO:0008538 temporal arteritis NANDO:1200258 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Giant cell arteritis +MONDO:0008538 temporal arteritis NANDO:1200259 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cranial giant cell arteritis +MONDO:0008538 temporal arteritis NANDO:1200260 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Large-vessel giant cell arteritis +MONDO:0008542 tetralogy of fallot NANDO:1200709 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tetralogy of Fallot +MONDO:0008542 tetralogy of fallot NANDO:2100075 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tetralogy of Fallot +MONDO:0008542 tetralogy of fallot NANDO:2200254 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tetralogy of Fallot +MONDO:0008546 thanatophoric dysplasia type 1 NANDO:1200875 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Thanatophoric dysplasia type 1 +MONDO:0008547 thanatophoric dysplasia type 2 NANDO:1200876 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Thanatophoric dysplasia type 2 +MONDO:0008555 thrombocytopenia 2 NANDO:2200663 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autosomal dominant thrombocytopenia 2 +MONDO:0008556 thrombocytopenia, cyclic NANDO:2100192 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cyclic thrombocytopenia +MONDO:0008556 thrombocytopenia, cyclic NANDO:2200653 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cyclic thrombocytopenia +MONDO:0008558 autoimmune thrombocytopenic purpura NANDO:1200315 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Idiopathic thrombocytopenic purpura +MONDO:0008558 autoimmune thrombocytopenic purpura NANDO:2200645 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Immune thrombocytopenic purpura +MONDO:0008564 DiGeorge syndrome NANDO:1200339 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Thymus hypoplasia +MONDO:0008564 DiGeorge syndrome NANDO:1200688 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 22q11.2 deletion syndrome +MONDO:0008564 DiGeorge syndrome NANDO:2200712 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Thymus hypoplasia +MONDO:0008608 Down syndrome NANDO:2200965 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Down syndrome +MONDO:0008628 ureterocele NANDO:2200183 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ureteroceles +MONDO:0008633 Muckle-Wells syndrome NANDO:1200467 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Muckle-Wells syndrome +MONDO:0008633 Muckle-Wells syndrome NANDO:2201067 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Muckle-Wells syndrome +MONDO:0008642 VACTERL/vater association NANDO:1200657 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO VATER syndrome +MONDO:0008642 VACTERL/vater association NANDO:2200983 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO VATER syndrome +MONDO:0008644 velocardiofacial syndrome NANDO:1200339 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Thymus hypoplasia +MONDO:0008644 velocardiofacial syndrome NANDO:1200688 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 22q11.2 deletion syndrome +MONDO:0008644 velocardiofacial syndrome NANDO:2200712 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Thymus hypoplasia +MONDO:0008667 von Hippel-Lindau disease NANDO:2200408 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Von Hippel-Lindau disease +MONDO:0008667 von Hippel-Lindau disease NANDO:2200829 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO von Hippel-Lindau disease +MONDO:0008674 obsolete WHIM syndrome NANDO:2200767 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO WHIM syndrome +MONDO:0008678 Williams syndrome NANDO:1200664 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Williams syndrome +MONDO:0008678 Williams syndrome NANDO:2200286 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Williams syndrome +MONDO:0008682 Denys-Drash syndrome NANDO:2200116 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Denys-Drash syndrome +MONDO:0008684 Wolf-Hirschhorn syndrome NANDO:1200683 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 4p deletion syndrome +MONDO:0008684 Wolf-Hirschhorn syndrome NANDO:2200962 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 4p- Syndrome +MONDO:0008685 Wolff-Parkinson-White syndrome NANDO:2200217 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Supraventricular tachycardia due to WPW syndrome +MONDO:0008692 abetalipoproteinemia NANDO:1200857 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Abetalipoproteinemia +MONDO:0008692 abetalipoproteinemia NANDO:2200604 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Abetalipoproteinemia +MONDO:0008695 chorea-acanthocytosis NANDO:1200014 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chorea-acanthocytosis +MONDO:0008702 achondrogenesis type II NANDO:2201345 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Achondrogenesis type 2 +MONDO:0008703 acromesomelic dysplasia 2A NANDO:2201345 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Achondrogenesis type 2 +MONDO:0008703 acromesomelic dysplasia 2A NANDO:2201346 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypochondrogenesis +MONDO:0008713 acrodermatitis enteropathica NANDO:2200584 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acrodermatitis enteropathica +MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency NANDO:2200513 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Medium-chain acyl-CoA dehydrogenase deficiency +MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency NANDO:2200514 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Short-chain acyl-CoA dehydrogenase deficiency +MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency NANDO:2200512 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Very-long-chain acyl-CoA dehydrogenase deficiency +MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency NANDO:2201139 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Presymptomatic very-long-chain acyl-CoA dehydrogenase deficiency +MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency NANDO:1200398 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 3-β-Hydroxysteroid dehydrogenase deficiency +MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency NANDO:2200371 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 3 beta-hydroxysteroid dehydrogenase deficiency +MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency NANDO:1200399 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 21-Hydroxylase deficiency +MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency NANDO:2200374 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 21-Hydroxylase deficiency +MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency NANDO:1200400 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 11-β-Hydroxylase deficiency +MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency NANDO:2200372 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 11-β-Hydroxylase deficiency +MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency NANDO:1200401 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 17-α-Hydroxylase deficiency +MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency NANDO:2200373 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 17 alpha-hydroxylase deficiency +MONDO:0008737 congenital afibrinogenemia NANDO:2200672 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Afibrinogenemia +MONDO:0008738 aganglionosis, total intestinal NANDO:1200460 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital isolated hypoganglionosis +MONDO:0008738 aganglionosis, total intestinal NANDO:2200948 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital Isolated Hypoganglionosis +MONDO:0008749 pseudohypoparathyroidism type 2 NANDO:1201078 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pseudohypoparathyroidism type 2 +MONDO:0008752 Alexander disease NANDO:1200554 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Alexander disease +MONDO:0008752 Alexander disease NANDO:2200835 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Alexander disease +MONDO:0008753 alkaptonuria NANDO:2200504 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Alkaptonuria +MONDO:0008760 beta-ketothiolase deficiency NANDO:1200987 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Beta-ketothiolase deficiency +MONDO:0008760 beta-ketothiolase deficiency NANDO:2200493 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Beta-ketothiolase deficiency +MONDO:0008769 neuronal ceroid lipofuscinosis 2 NANDO:1200153 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Late infantile neuronal ceroid lipofuscinosis +MONDO:0008769 neuronal ceroid lipofuscinosis 2 NANDO:2201242 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Late infantile neuronal ceroid lipofuscinosis +MONDO:0008777 gelatinous drop-like corneal dystrophy NANDO:1201006 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Gelatinous drop-like corneal dystrophy +MONDO:0008783 Tangier disease NANDO:1200854 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tangier disease +MONDO:0008803 Antley-Bixler syndrome NANDO:1200669 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Antley-Bixler syndrome +MONDO:0008803 Antley-Bixler syndrome NANDO:2200975 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Antley-Bixler syndrome +MONDO:0008814 hyperargininemia NANDO:1200807 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Argininemia +MONDO:0008814 hyperargininemia NANDO:2200482 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hyperargininemia +MONDO:0008815 argininosuccinic aciduria NANDO:1200806 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Argininosuccinic aciduria +MONDO:0008815 argininosuccinic aciduria NANDO:2200481 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Argininosuccinic aciduria +MONDO:0008830 aspartylglucosaminuria NANDO:1200133 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aspartylglucosaminuria +MONDO:0008830 aspartylglucosaminuria NANDO:2200555 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aspartylglucosaminuria +MONDO:0008840 ataxia telangiectasia NANDO:1200331 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ataxia telangiectasia +MONDO:0008840 ataxia telangiectasia NANDO:2200705 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ataxia telangiectasia +MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia NANDO:1200051 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ataxia-oculomotor apraxia type 1 +MONDO:0008846 atransferrinemia NANDO:2100180 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital atransferrinemia +MONDO:0008846 atransferrinemia NANDO:2200617 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital atransferrinemia +MONDO:0008852 obsolete congenital central hypoventilation syndrome NANDO:1200753 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital central hypoventilation syndrome +MONDO:0008852 obsolete congenital central hypoventilation syndrome NANDO:2100032 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital central hypoventilation syndrome +MONDO:0008852 obsolete congenital central hypoventilation syndrome NANDO:2200198 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital central hypoventilation syndrome +MONDO:0008855 MHC class II deficiency NANDO:1200329 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO MHC class II deficiency +MONDO:0008855 MHC class II deficiency NANDO:2200702 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO MHC class II deficiency +MONDO:0008863 sitosterolemia NANDO:1200853 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sitosterolemia +MONDO:0008867 biliary atresia NANDO:1200913 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Biliary atresia +MONDO:0008867 biliary atresia NANDO:2200930 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO biliary atresia +MONDO:0008876 Bloom syndrome NANDO:1200333 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Bloom syndrome +MONDO:0008876 Bloom syndrome NANDO:2200707 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Bloom syndrome +MONDO:0008888 Williams-Campbell syndrome NANDO:2201040 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Bronchomalacia +MONDO:0008889 thromboangiitis obliterans NANDO:1200266 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Buerger's disease +MONDO:0008892 progressive familial intrahepatic cholestasis type 1 NANDO:1201043 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Progressive familial intrahepatic cholestasis type 1 +MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency NANDO:2200773 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO CARD9 deficiency +MONDO:0008918 carnitine-acylcarnitine translocase deficiency NANDO:1200972 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Carnitine-acylcarnitine translocase deficiency +MONDO:0008918 carnitine-acylcarnitine translocase deficiency NANDO:2200511 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Carnitine-acylcarnitine translocase deficiency +MONDO:0008919 systemic primary carnitine deficiency disease NANDO:1200973 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Systemic primary carnitine deficiency +MONDO:0008919 systemic primary carnitine deficiency disease NANDO:2200508 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Organic cation transporter 2 deficiency +MONDO:0008947 bilateral striopallidodentate calcinosis NANDO:1200207 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Idiopathic basal ganglia calcification +MONDO:0008948 cerebrotendinous xanthomatosis NANDO:1200856 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cerebrotendinous xanthomatosis +MONDO:0008956 obsolete congenital neuronal ceroid lipofuscinosis NANDO:1200151 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital neuronal ceroid lipofuscinosis +MONDO:0008956 obsolete congenital neuronal ceroid lipofuscinosis NANDO:2201240 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital neuronal ceroid lipofuscinosis +MONDO:0008963 Chediak-Higashi syndrome NANDO:1200350 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chédiak-Higashi syndrome +MONDO:0008963 Chediak-Higashi syndrome NANDO:1200639 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chédiak-Higashi syndrome +MONDO:0008963 Chediak-Higashi syndrome NANDO:2200724 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chédiak-Higashi syndrome +MONDO:0008965 CHARGE syndrome NANDO:1200464 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO CHARGE syndrome +MONDO:0008965 CHARGE syndrome NANDO:2200972 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO CHARGE syndrome +MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 NANDO:1200763 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Rhizomelic chondrodysplasia punctata type 1 +MONDO:0008974 Greenberg dysplasia NANDO:2201361 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Greenberg dysplasia +MONDO:0008977 chondrosarcoma NANDO:2200050 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chondrosarcoma +MONDO:0008978 chordoma NANDO:2200098 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chordoma +MONDO:0008982 central areolar choroidal dystrophy NANDO:1200939 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Central areolar choroidal dystrophy +MONDO:0008988 citrullinemia type I NANDO:1200805 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Classic citrullinemia +MONDO:0008988 citrullinemia type I NANDO:2200480 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Argininosuccinate synthetase deficiency +MONDO:0008996 obsolete COACH syndrome 1 NANDO:1201050 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO COACH syndrome +MONDO:0008999 Cohen syndrome NANDO:2200750 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cohen syndrome +MONDO:0009006 complement component 2 deficiency NANDO:2200781 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO C2 deficiency +MONDO:0009010 aortic arch interruption NANDO:2200288 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Interruption of aortic arch complex +MONDO:0009025 apparent mineralocorticoid excess NANDO:2100130 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Apparent mineralocorticoid excess syndrome +MONDO:0009025 apparent mineralocorticoid excess NANDO:2200362 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Apparent mineralocorticoid excess syndrome +MONDO:0009026 Costello syndrome NANDO:1200463 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Costello syndrome +MONDO:0009026 Costello syndrome NANDO:2200971 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Costello syndrome +MONDO:0009031 craniodiaphyseal dysplasia NANDO:2201368 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Craniodiaphyseal dysplasia +MONDO:0009039 Baller-Gerold syndrome NANDO:1201059 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Baller-Gerold syndrome +MONDO:0009044 Crigler-Najjar syndrome NANDO:2100272 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Crigler-Najjar syndrome +MONDO:0009044 Crigler-Najjar syndrome NANDO:2200941 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Crigler-Najjar syndrome +MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia NANDO:2200353 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO ACTH-independent macronodular adrenal hyperplasia +MONDO:0009050 Cushing disease due to pituitary adenoma NANDO:1200379 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cushing disease +MONDO:0009050 Cushing disease due to pituitary adenoma NANDO:2200350 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cushing disease +MONDO:0009061 cystic fibrosis NANDO:1200922 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cystic fibrosis +MONDO:0009061 cystic fibrosis NANDO:1201021 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cystic fibrosis +MONDO:0009061 cystic fibrosis NANDO:2100035 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cystic fibrosis +MONDO:0009061 cystic fibrosis NANDO:2200205 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cystic fibrosis +MONDO:0009064 ocular cystinosis NANDO:1200164 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Non-nephropathic cystinosis +MONDO:0009064 ocular cystinosis NANDO:2201236 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Non-nephropathic cystinosis +MONDO:0009066 juvenile nephropathic cystinosis NANDO:1200163 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Intermediate cystinosis +MONDO:0009066 juvenile nephropathic cystinosis NANDO:2201235 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Intermediate cystinosis +MONDO:0009067 cystinuria NANDO:2200489 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cystinuria +MONDO:0009072 Dandy-Walker syndrome NANDO:2200821 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dandy-Walker syndrome +MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly NANDO:1200658 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Nasu-Hakola disease +MONDO:0009096 obsolete hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia NANDO:1200546 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary diffuse leukoencephalopathy with spheroid +MONDO:0009109 lysinuric protein intolerance NANDO:1200809 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lysinuric protein intolerance +MONDO:0009109 lysinuric protein intolerance NANDO:2200488 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lysinuric protein intolerance +MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 NANDO:1200771 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Rhizomelic chondrodysplasia punctata type 2 +MONDO:0009114 congenital sucrase-isomaltase deficiency NANDO:2200908 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital sucrase-isomaltase deficiency +MONDO:0009116 obsolete lactose intolerance NANDO:2200907 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lactose intolerance +MONDO:0009123 orthostatic hypotension 1 NANDO:2200597 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dopamine beta hydroxylase deficiency +MONDO:0009134 congenital dyserythropoietic anemia type 2 NANDO:1200887 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital dyserythropoietic anemia type II +MONDO:0009138 dysosteosclerosis NANDO:2201365 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dysosteosclerosis +MONDO:0009141 torsion dystonia 2 NANDO:1200513 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dystonia 2 +MONDO:0009144 Ebstein anomaly NANDO:1200711 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ebstein's anomaly +MONDO:0009144 Ebstein anomaly NANDO:2100080 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ebstein's anomaly +MONDO:0009144 Ebstein anomaly NANDO:2200260 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ebstein's anomaly +MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type NANDO:1200651 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ehlers-Danlos syndrome, dermatosparaxis type +MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type NANDO:2201261 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ehlers-Danlos syndrome, dermatosparaxis type +MONDO:0009169 endocardial fibroelastosis NANDO:2100060 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Endocardial fibroelastosis +MONDO:0009169 endocardial fibroelastosis NANDO:2200235 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Endocardial fibroelastosis +MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency NANDO:2200910 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Enterokinase deficiency +MONDO:0009176 epidermodysplasia verruciformis NANDO:2200768 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Epidermodysplasia verruciformis +MONDO:0009179 recessive dystrophic epidermolysis bullosa NANDO:1200238 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Recessive dystrophic epidermolysis bullosa +MONDO:0009179 recessive dystrophic epidermolysis bullosa NANDO:2201383 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Recessive dystrophic epidermolysis bullosa, generalized severe +MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type NANDO:1201066 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Non-Herlitz junctional epidermolysis bullosa +MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type NANDO:2201379 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Non-Herlitz junctional epidermolysis bullosa +MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy NANDO:2201376 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Epidermolysis bullosa simplex with muscular dystrophy +MONDO:0009182 junctional epidermolysis bullosa Herlitz type NANDO:1201065 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Herlitz junctional epidermolysis bullosa +MONDO:0009182 junctional epidermolysis bullosa Herlitz type NANDO:2200119 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Herlitz junctional epidermolysis bullosa +MONDO:0009182 junctional epidermolysis bullosa Herlitz type NANDO:2201378 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Herlitz junctional epidermolysis bullosa +MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia NANDO:2201380 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Junctional epidermolysis bullosa with pyloric atresia +MONDO:0009194 immunodeficiency 32B NANDO:2200808 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic active EB virus infection +MONDO:0009218 Farber lipogranulomatosis NANDO:1200086 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Farber disease +MONDO:0009218 Farber lipogranulomatosis NANDO:2200565 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Farber disease +MONDO:0009234 congenital high-molecular-weight kininogen deficiency NANDO:2200685 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO High molecular weight kininogen deficiency +MONDO:0009238 hereditary folate malabsorption NANDO:1200810 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary folate malabsorption +MONDO:0009238 hereditary folate malabsorption NANDO:2200592 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary folate malabsorption +MONDO:0009249 hereditary fructose intolerance NANDO:2200531 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary fructose intolerance +MONDO:0009251 fructose-1,6-bisphosphatase deficiency NANDO:2200535 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fructose-1,6-bisphosphatase deficiency +MONDO:0009254 fucosidosis NANDO:1200130 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fucosidosis +MONDO:0009254 fucosidosis NANDO:2200553 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fucosidosis +MONDO:0009255 galactokinase deficiency NANDO:2200533 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Galactokinase deficiency +MONDO:0009257 galactose epimerase deficiency NANDO:2200534 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO UDP-galactose-4-epimerase deficiency +MONDO:0009258 classic galactosemia NANDO:1200851 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Galactose-1-phosphate uridyltransferase deficiency +MONDO:0009258 classic galactosemia NANDO:2200532 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Galactose-1-phosphate uridyltransferase deficiency +MONDO:0009260 GM1 gangliosidosis type 1 NANDO:1200067 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Infantile GM1 gangliosidosis +MONDO:0009260 GM1 gangliosidosis type 1 NANDO:2201196 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO GM1 gangliosidosis, infantile form +MONDO:0009261 GM1 gangliosidosis type 2 NANDO:1200068 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Juvenile GM1 gangliosidosis +MONDO:0009261 GM1 gangliosidosis type 2 NANDO:2201197 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO GM1 gangliosidosis, juvenile form +MONDO:0009262 GM1 gangliosidosis type 3 NANDO:1200069 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Adult GM1 gangliosidosis +MONDO:0009262 GM1 gangliosidosis type 3 NANDO:2201198 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO GM1 gangliosidosis, adult form +MONDO:0009265 Gaucher disease type I NANDO:1200057 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Gaucher disease type 1 +MONDO:0009265 Gaucher disease type I NANDO:2201210 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Gaucher disease type 1 +MONDO:0009266 Gaucher disease type II NANDO:1200058 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Gaucher disease type 2 +MONDO:0009266 Gaucher disease type II NANDO:2201211 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Gaucher disease type 2 +MONDO:0009267 Gaucher disease type III NANDO:1200059 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Gaucher disease type 3 +MONDO:0009267 Gaucher disease type III NANDO:2201212 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Gaucher disease type 3 +MONDO:0009276 Bernard-Soulier syndrome NANDO:2200656 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Bernard-Soulier syndrome +MONDO:0009278 obsolete hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency NANDO:2200516 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 3-hydroxy acyl-CoA dehydrogenase deficiency +MONDO:0009279 triple-A syndrome NANDO:1200410 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Allgrove syndrome +MONDO:0009281 glutaryl-CoA dehydrogenase deficiency NANDO:1200800 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glutaric acidemia type 1 +MONDO:0009281 glutaryl-CoA dehydrogenase deficiency NANDO:2200501 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glutaric acidemia type 1 +MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency NANDO:1200801 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glutaric acidemia type 2 +MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency NANDO:2200502 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glutaric acidemia type 2 +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA NANDO:2201153 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage disease type 1a +MONDO:0009288 glycogen storage disease Ib NANDO:1200841 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hepatic glycogen storage disease type Ib +MONDO:0009288 glycogen storage disease Ib NANDO:2200754 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage disease type 1b +MONDO:0009288 glycogen storage disease Ib NANDO:2201154 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage disease type 1b +MONDO:0009290 glycogen storage disease II NANDO:1200138 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pompe disease +MONDO:0009290 glycogen storage disease II NANDO:1200825 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage diseases type II +MONDO:0009290 glycogen storage disease II NANDO:2200569 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pompe disease +MONDO:0009291 glycogen storage disease III NANDO:1200826 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage diseases type III +MONDO:0009291 glycogen storage disease III NANDO:1200844 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hepatic GSD type IIIc +MONDO:0009291 glycogen storage disease III NANDO:1201019 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hepatic glycogen storage disease type III +MONDO:0009291 glycogen storage disease III NANDO:2200539 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage disease type III +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency NANDO:1200827 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage diseases type IV +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency NANDO:1200850 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hepatic glycogen storage disease type IV +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency NANDO:2200540 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage disease type IV +MONDO:0009293 glycogen storage disease V NANDO:1200828 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage diseases type V +MONDO:0009293 glycogen storage disease V NANDO:2200541 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage disease type V +MONDO:0009294 glycogen storage disease VI NANDO:1200846 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hepatic glycogen storage disease type VI +MONDO:0009294 glycogen storage disease VI NANDO:2200542 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage disease type VI +MONDO:0009295 glycogen storage disease VII NANDO:1200823 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Muscle glycogen storage disease +MONDO:0009295 glycogen storage disease VII NANDO:1200829 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage diseases type VII +MONDO:0009295 glycogen storage disease VII NANDO:2200543 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage disease type VII +MONDO:0009299 46 XX gonadal dysgenesis NANDO:2200384 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ovarian dysgenesis +MONDO:0009303 anti-glomerular basement membrane disease NANDO:1200717 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Anti-GBM rapidly progressive glomerulonephritis +MONDO:0009303 anti-glomerular basement membrane disease NANDO:1200718 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Goodpasture syndrome +MONDO:0009303 anti-glomerular basement membrane disease NANDO:2200125 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Goodpasture syndrome +MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative NANDO:2201280 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO p22phox-deficient chronic granulomatous disease +MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 NANDO:2201281 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO p47phox-deficient chronic granulomatous disease +MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 NANDO:2201282 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO p67phox-deficient chronic granulomatous disease +MONDO:0009315 congenital factor XII deficiency NANDO:2200680 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Factor XII deficiency +MONDO:0009318 Hallermann-Streiff syndrome NANDO:2200973 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hallermann-Streiff syndrome +MONDO:0009319 pantothenate kinase-associated neurodegeneration NANDO:1200534 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neurodegeneration with brain iron accumulation type 1 +MONDO:0009319 pantothenate kinase-associated neurodegeneration NANDO:2200886 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pantothenate kinase-associated neurodegeneration +MONDO:0009324 Hartnup disease NANDO:2200487 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hartnup disease +MONDO:0009326 congenital heart block NANDO:2200214 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Complete atrio-ventricular block +MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome NANDO:1200341 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hepatic veno-occlusive disease with immunodeficiency +MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome NANDO:2200714 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hepatic veno-occlusive disease with immunodeficiency +MONDO:0009341 Mowat-Wilson syndrome NANDO:1200663 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mowat-Wilson syndrome +MONDO:0009341 Mowat-Wilson syndrome NANDO:2200981 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mowat-Wilson syndrome +MONDO:0009352 classic homocystinuria NANDO:1201039 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Homocystinuria type 1 +MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency NANDO:1201041 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Homocystinuria type 3 +MONDO:0009354 methylcobalamin deficiency type cblE NANDO:2201109 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Methylcobalamin deficiency cblE type +MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease NANDO:1200803 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Carbamoyl phosphate synthetase I deficiency +MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease NANDO:2200478 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Carbamoylphosphate synthetase deficiency +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency NANDO:1200808 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO NAGS deficiency +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency NANDO:2200477 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO N-acetylglutamate synthetase deficiency +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency NANDO:2201084 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Presymptomatic N-acetylglutamate synthetase deficiency +MONDO:0009393 ornithine translocase deficiency NANDO:2200485 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome +MONDO:0009410 obsolete Addison disease NANDO:1200411 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Addison's disease +MONDO:0009410 obsolete Addison disease NANDO:1200412 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autoimmune Addison's disease +MONDO:0009410 obsolete Addison disease NANDO:2200359 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Other chronic adrenal insufficiency +MONDO:0009410 obsolete Addison disease NANDO:2200360 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Addison's disease +MONDO:0009411 autoimmune polyendocrine syndrome type 1 NANDO:2200346 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autoimmune polyendocrinopathy type 1 +MONDO:0009411 autoimmune polyendocrine syndrome type 1 NANDO:2200738 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency NANDO:1200824 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage diseases type 0 +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency NANDO:1200838 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hepatic glycogen storage disease +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency NANDO:2200537 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen synthase deficiency +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency NANDO:2201151 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage disease type 0a +MONDO:0009443 autosomal recessive congenital ichthyosis 4B NANDO:1200614 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Harlequin ichthyosis +MONDO:0009443 autosomal recessive congenital ichthyosis 4B NANDO:2200992 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Harlequin ichthyosis +MONDO:0009458 Schimke immuno-osseous dysplasia NANDO:1200337 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Schimke syndrome +MONDO:0009458 Schimke immuno-osseous dysplasia NANDO:2200711 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Schimke syndrome +MONDO:0009475 isovaleric acidemia NANDO:1200798 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Isovaleric acidemia +MONDO:0009475 isovaleric acidemia NANDO:2200494 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Isovaleric acidemia +MONDO:0009480 Joubert syndrome with oculorenal defect NANDO:1200662 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Arima syndrome +MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency NANDO:2200499 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Succinyl-CoA:3-ketoacid CoA transferase deficiency +MONDO:0009499 Krabbe disease NANDO:1200074 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Krabbe disease +MONDO:0009499 Krabbe disease NANDO:2200564 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Krabbe disease +MONDO:0009509 Landau-Kleffner syndrome NANDO:1200602 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Landau-Kleffner syndrome +MONDO:0009515 Norum disease NANDO:1200852 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lecithin cholesterol acyltransferase deficiency +MONDO:0009520 3-hydroxy-3-methylglutaric aciduria NANDO:2200497 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 3-hydroxy-3-methylglutaric acidemia +MONDO:0009520 3-hydroxy-3-methylglutaric aciduria NANDO:2201119 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Presymptomatic 3-hydroxy-3-methylglutaric acidemia +MONDO:0009530 lipoid proteinosis NANDO:2200608 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lipoid proteinosis +MONDO:0009532 Miller-Dieker lissencephaly syndrome NANDO:1201083 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Miller Dieker syndrome +MONDO:0009537 lymphoid interstitial pneumonia NANDO:1200424 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lymphoid interstitial pneumonia +MONDO:0009561 alpha-mannosidosis NANDO:1200126 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Alpha-mannosidosis +MONDO:0009562 beta-mannosidosis NANDO:1200129 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Beta-mannosidosis +MONDO:0009562 beta-mannosidosis NANDO:2201190 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Beta-mannosidosis +MONDO:0009563 maple syrup urine disease NANDO:1200791 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Maple syrup urine disease +MONDO:0009563 maple syrup urine disease NANDO:2200473 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Maple syrup urine disease +MONDO:0009567 Marinesco-Sjogren syndrome NANDO:1200485 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Marinesco-Sjogren syndrome +MONDO:0009572 autosomal recessive familial Mediterranean fever NANDO:1200864 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Typical familial Mediterranean fever +MONDO:0009578 neurocutaneous melanocytosis NANDO:2200827 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neurocutaneous melanosis +MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency NANDO:1200082 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Saposin B deficiency +MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency NANDO:2201205 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Saposin B deficiency +MONDO:0009591 metachromatic leukodystrophy, juvenile form NANDO:1200080 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Juvenile ｍetachromatic leukodystrophy +MONDO:0009591 metachromatic leukodystrophy, juvenile form NANDO:2201203 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Metachromatic leukodystrophy, juvenile form +MONDO:0009609 methylcobalamin deficiency type cblG NANDO:2201111 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Methylcobalamin deficiency cblG type +MONDO:0009610 3-methylglutaconic aciduria type 1 NANDO:1200990 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 3-methylglutaconic aciduria type I +MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency NANDO:1200794 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Methylmalonyl-Coenzyme A mutase deficiency +MONDO:0009613 methylmalonic aciduria, cblA type NANDO:1200795 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Methylmalonic acidemia cblA type +MONDO:0009613 methylmalonic aciduria, cblA type NANDO:2201105 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Methylmalonic acidemia cblA type +MONDO:0009614 methylmalonic aciduria, cblB type NANDO:1200796 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Methylmalonic acidemia cblB type +MONDO:0009614 methylmalonic aciduria, cblB type NANDO:2201106 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Methylmalonic acidemia cblB type +MONDO:0009623 Nijmegen breakage syndrome NANDO:1200332 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Nijmegen breakage syndrome +MONDO:0009623 Nijmegen breakage syndrome NANDO:2200706 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Nijmegen breakage syndrome +MONDO:0009627 Galloway-Mowat syndrome NANDO:1200713 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Galloway-Mowat syndrome +MONDO:0009627 Galloway-Mowat syndrome NANDO:2200120 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Galloway-Mowat syndrome +MONDO:0009627 Galloway-Mowat syndrome NANDO:2201385 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Galloway-Mowat syndrome +MONDO:0009635 microvillus inclusion disease NANDO:2100255 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Microvillus inclusion disease +MONDO:0009635 microvillus inclusion disease NANDO:2200913 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Microvillus inclusion disease +MONDO:0009641 obsolete mitochondrial complex II deficiency NANDO:1200181 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mitochondrial complex II deficiency +MONDO:0009650 mucolipidosis type II NANDO:1200124 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mucolipidosis II +MONDO:0009650 mucolipidosis type II NANDO:2200567 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mucolipidosis II +MONDO:0009655 mucopolysaccharidosis type 3A NANDO:1200101 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sanfilippo disease type A +MONDO:0009655 mucopolysaccharidosis type 3A NANDO:2201174 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mucopolysaccharidosis type III A +MONDO:0009656 mucopolysaccharidosis type 3B NANDO:1200102 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sanfilippo disease type B +MONDO:0009656 mucopolysaccharidosis type 3B NANDO:2201175 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mucopolysaccharidosis type III B +MONDO:0009657 mucopolysaccharidosis type 3C NANDO:1200103 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sanfilippo disease type C +MONDO:0009657 mucopolysaccharidosis type 3C NANDO:2201176 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mucopolysaccharidosis type III C +MONDO:0009658 mucopolysaccharidosis type 3D NANDO:1200104 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sanfilippo disease type D +MONDO:0009658 mucopolysaccharidosis type 3D NANDO:2201177 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mucopolysaccharidosis type III D +MONDO:0009659 mucopolysaccharidosis type 4A NANDO:1200106 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Morquio syndrome type A +MONDO:0009659 mucopolysaccharidosis type 4A NANDO:2201178 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mucopolysaccharidosis type IV A +MONDO:0009660 mucopolysaccharidosis type 4B NANDO:1200107 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Morquio syndrome type B +MONDO:0009660 mucopolysaccharidosis type 4B NANDO:2201179 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mucopolysaccharidosis type IV B +MONDO:0009661 mucopolysaccharidosis type 6 NANDO:1200108 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Maroteaux-Lamy syndrome +MONDO:0009661 mucopolysaccharidosis type 6 NANDO:1200109 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Maroteaux Lamy syndrome, rapidly progressing form +MONDO:0009661 mucopolysaccharidosis type 6 NANDO:1200110 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Maroteaux Lamy syndrome, slowly progressing form +MONDO:0009661 mucopolysaccharidosis type 6 NANDO:2200551 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mucopolysaccharidosis type VI +MONDO:0009662 mucopolysaccharidosis type 7 NANDO:1200111 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sly syndrome +MONDO:0009662 mucopolysaccharidosis type 7 NANDO:2200552 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mucopolysaccharidosis type VII +MONDO:0009665 biotinidase deficiency NANDO:1200822 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Biotinidase deficiency +MONDO:0009666 holocarboxylase synthetase deficiency NANDO:1200821 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Holocarboxylase synthetase deficiency +MONDO:0009669 spinal muscular atrophy, type 1 NANDO:1200004 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Spinal muscular atrophy type I +MONDO:0009672 spinal muscular atrophy, type III NANDO:1200006 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Spinal muscular atrophy type III +MONDO:0009673 spinal muscular atrophy, type II NANDO:1200005 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Spinal muscular atrophy type II +MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 NANDO:1200494 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fukuyama type congenital muscular dystrophy +MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 NANDO:2200860 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fukuyama type congenital muscular dystrophy +MONDO:0009681 Ullrich congenital muscular dystrophy 1 NANDO:1200215 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ullrich disease +MONDO:0009685 Miyoshi myopathy NANDO:1200217 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Miyoshi myopathy +MONDO:0009688 myasthenia gravis NANDO:1200020 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myasthenia gravis +MONDO:0009688 myasthenia gravis NANDO:2100252 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myasthenia gravis +MONDO:0009688 myasthenia gravis NANDO:2200906 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myasthenia gravis +MONDO:0009689 congenital myasthenic syndrome 6 NANDO:1201057 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital myasthenic syndrome with episodic apnoea +MONDO:0009694 myeloperoxidase deficiency NANDO:1200358 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myeloperoxidase deficiency +MONDO:0009694 myeloperoxidase deficiency NANDO:2200758 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myeloperoxidase deficiency +MONDO:0009697 Lafora disease NANDO:1200955 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lafora disease +MONDO:0009697 Lafora disease NANDO:2200881 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lafora disease +MONDO:0009698 Unverricht-Lundborg syndrome NANDO:1200954 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Unverricht-Lundborg disease +MONDO:0009698 Unverricht-Lundborg syndrome NANDO:2200880 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Unverricht-Lundborg disease +MONDO:0009705 carnitine palmitoyl transferase 1A deficiency NANDO:1200970 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Carnitine palmitoyltransferase I deficiency +MONDO:0009705 carnitine palmitoyl transferase 1A deficiency NANDO:2200509 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Carnitine palmitoyltransferase I deficiency +MONDO:0009710 Thomsen and Becker disease NANDO:1200497 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myotonia congenita +MONDO:0009710 Thomsen and Becker disease NANDO:1200498 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Thomsen disease +MONDO:0009711 congenital fiber-type disproportion myopathy NANDO:1200483 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital fiber-type disproportion myopathy +MONDO:0009711 congenital fiber-type disproportion myopathy NANDO:2200868 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital fiber-type disproportion myopathy +MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia NANDO:2200872 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Minicore myopathy +MONDO:0009715 myotonia congenita, autosomal recessive NANDO:1200499 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Becker disease +MONDO:0009717 Schwartz-Jampel syndrome NANDO:1200224 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Schwartz-Jampel syndrome +MONDO:0009717 Schwartz-Jampel syndrome NANDO:2100235 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Schwartz-Jampel syndrome +MONDO:0009717 Schwartz-Jampel syndrome NANDO:2200876 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Schwartz-Jampel syndrome +MONDO:0009723 Leigh syndrome NANDO:1200175 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Leigh's encephalomyelopathy +MONDO:0009723 Leigh syndrome NANDO:2200527 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Leigh syndrome +MONDO:0009726 proteosome-associated autoinflammatory syndrome NANDO:1200867 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Nakajo-Nishimura syndrome +MONDO:0009726 proteosome-associated autoinflammatory syndrome NANDO:2200435 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Nakajo-Nishimura syndrome +MONDO:0009728 nephronophthisis 1 NANDO:1201036 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Nephronophthisis +MONDO:0009728 nephronophthisis 1 NANDO:2200140 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Nephronophthisis +MONDO:0009732 congenital nephrotic syndrome, Finnish type NANDO:2200110 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital nephrotic syndrome of the Finnish type +MONDO:0009735 Netherton syndrome NANDO:1200338 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Netherton syndrome +MONDO:0009735 Netherton syndrome NANDO:1200619 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Netherton syndrome +MONDO:0009735 Netherton syndrome NANDO:2200993 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Netherton syndrome +MONDO:0009737 galactosialidosis NANDO:1200119 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Galactosialidosis +MONDO:0009737 galactosialidosis NANDO:2200557 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Galactosialidosis +MONDO:0009738 sialidosis type 2 NANDO:1200118 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sialidosis type 2 +MONDO:0009738 sialidosis type 2 NANDO:1200120 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Galactosialidosis, early infantile form +MONDO:0009738 sialidosis type 2 NANDO:2201192 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sialidosis type 2 +MONDO:0009738 sialidosis type 2 NANDO:2201193 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Galactosialidosis, early infantile form +MONDO:0009739 obsolete infantile neuroaxonal dystrophy NANDO:2200887 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Infantile neuroaxonal dystrophy +MONDO:0009744 neuronal ceroid lipofuscinosis 1 NANDO:1200152 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Infantile neuronal ceroid lipofuscinosis +MONDO:0009744 neuronal ceroid lipofuscinosis 1 NANDO:2201241 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Infantile neuronal ceroid lipofuscinosis +MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 NANDO:1200553 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital insensitivity to pain with anhidrosis +MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 NANDO:2200854 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital insensitivity to pain with anhidrosis +MONDO:0009756 Niemann-Pick disease type A NANDO:1200061 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Niemann-Pick disease type A +MONDO:0009756 Niemann-Pick disease type A NANDO:2201206 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Niemann-Pick disease type A +MONDO:0009763 obesity-hypoventilation syndrome NANDO:1200752 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Obesity hypoventilation syndrome +MONDO:0009774 cloacal exstrophy NANDO:1200909 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cloacal exstrophy +MONDO:0009774 cloacal exstrophy NANDO:1200910 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Persistent cloaca +MONDO:0009774 cloacal exstrophy NANDO:2200950 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Persistent cloaca +MONDO:0009774 cloacal exstrophy NANDO:2200951 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cloacal exstrophy +MONDO:0009787 3-methylglutaconic aciduria type 3 NANDO:1200992 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 3-methylglutaconic aciduria type III +MONDO:0009796 ornithine aminotransferase deficiency NANDO:2200484 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hyperornithinemia +MONDO:0009796 ornithine aminotransferase deficiency NANDO:2200486 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Gyrate atrophy of choroid and retina +MONDO:0009797 orotic aciduria NANDO:2200590 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Orotic aciduria +MONDO:0009799 obsolete pachydermoperiostosis NANDO:1200642 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pachydermoperiostosis +MONDO:0009799 obsolete pachydermoperiostosis NANDO:2100288 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pachydermoperiostosis +MONDO:0009799 obsolete pachydermoperiostosis NANDO:2201004 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pachydermoperiostosis +MONDO:0009807 osteosarcoma NANDO:2200048 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Osteosarcoma +MONDO:0009813 chronic recurrent multifocal osteomyelitis NANDO:1200869 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic recurrent multifocal osteomyelitis +MONDO:0009813 chronic recurrent multifocal osteomyelitis NANDO:2200438 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic recurrent multifocal osteomyelitis +MONDO:0009823 primary hyperoxaluria type 1 NANDO:1200773 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Primary hyperoxaluria type 1 +MONDO:0009833 Shwachman-Diamond syndrome NANDO:1200356 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Shwachman-Diamond syndrome +MONDO:0009833 Shwachman-Diamond syndrome NANDO:2200756 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Shwachman-Diamond syndrome +MONDO:0009835 subacute sclerosing panencephalitis NANDO:1200195 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Subacute sclerosing panencephalitis +MONDO:0009835 subacute sclerosing panencephalitis NANDO:1200196 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Typical subacute sclerosing panencephalitis +MONDO:0009835 subacute sclerosing panencephalitis NANDO:1200198 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Subacute progressive sclerosing panencephalitis +MONDO:0009835 subacute sclerosing panencephalitis NANDO:2100245 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Subacute sclerosing panencephalitis +MONDO:0009835 subacute sclerosing panencephalitis NANDO:2200899 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Subacute sclerosing panencephalitis +MONDO:0009837 choroid plexus papilloma NANDO:2200093 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Choroid plexus papilloma +MONDO:0009849 hyperimmunoglobulinemia D with periodic fever NANDO:1200866 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hyper IgD syndrome +MONDO:0009849 hyperimmunoglobulinemia D with periodic fever NANDO:2200436 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hyper IgD syndrome +MONDO:0009855 d-bifunctional protein deficiency NANDO:1200766 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO D-bifunctional protein deficiency +MONDO:0009861 phenylketonuria NANDO:1200784 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Phenylketonuria +MONDO:0009861 phenylketonuria NANDO:1200785 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Phenylalanine hydroxylase deficiency +MONDO:0009861 phenylketonuria NANDO:2200467 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Phenylketonuria +MONDO:0009861 phenylketonuria NANDO:2201075 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Phenylalanine hydroxylase deficiency +MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency NANDO:1200832 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage diseases type X +MONDO:0009868 glycogen storage disease IXb NANDO:1200848 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hepatic glycogen storage disease type IXb +MONDO:0009868 glycogen storage disease IXb NANDO:2201165 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage disease type IXb +MONDO:0009883 alpha-2-plasmin inhibitor deficiency NANDO:2200687 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Alpha-2-plasmin inhibitor deficiency +MONDO:0009885 Scott syndrome NANDO:2200671 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Scott syndrome +MONDO:0009887 desquamative interstitial pneumonia NANDO:1200422 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Desquamative interstitial pneumonia +MONDO:0009887 desquamative interstitial pneumonia NANDO:1200423 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Respiratory bronchiolitis-associated interstitial lung disease +MONDO:0009889 autosomal recessive polycystic kidney disease NANDO:1200369 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autosomal recessive polycystic kidney disease +MONDO:0009889 autosomal recessive polycystic kidney disease NANDO:2200154 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autosomal recessive polycystic kidney disease +MONDO:0009891 acquired polycythemia vera NANDO:2100186 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Polycythemia vera +MONDO:0009891 acquired polycythemia vera NANDO:2200643 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Polycythemia vera +MONDO:0009897 adult polyglucosan body disease NANDO:2201163 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage disease type IV, adult form +MONDO:0009902 cutaneous porphyria NANDO:1200817 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital erythropoietic porphyria +MONDO:0009902 cutaneous porphyria NANDO:2201268 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital erythropoietic porphyria +MONDO:0009904 Gitelman syndrome NANDO:2100020 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Gitelman syndrome +MONDO:0009904 Gitelman syndrome NANDO:2200145 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Gitelman syndrome +MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency NANDO:2200390 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 17 beta-hydroxysteroid dehydrogenase deficiency +MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency NANDO:1200765 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Peroxisomal acyl-CoA oxidase deficiency +MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency NANDO:2200389 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 5 alpha-reductase deficiency +MONDO:0009924 vitamin D-dependent rickets, type 1 NANDO:1200782 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Vitamin D-dependent rickets, type 1 +MONDO:0009928 pulmonary alveolar microlithiasis NANDO:2200202 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pulmonary alveolar microlithiasis +MONDO:0009930 obsolete pulmonary arteriovenous malformation NANDO:2200295 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pulmonary arteriovenous fistulae +MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome NANDO:1200707 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pulmonary atresia with intact ventricular septum +MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome NANDO:2200253 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pulmonary atresia with intact ventricular septum +MONDO:0009937 pulmonary venoocclusive disease NANDO:1200427 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pulmonary veno-occlusive disease +MONDO:0009940 pycnodysostosis NANDO:2201023 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pycnodysostosis +MONDO:0009943 Pyle disease NANDO:2201367 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Metaphyseal dysplasias +MONDO:0009948 pyropoikilocytosis, hereditary NANDO:2200631 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary pyropoikilocytosis +MONDO:0009949 pyruvate carboxylase deficiency disease NANDO:2200519 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pyruvate carboxylase deficiency +MONDO:0009950 pyruvate kinase deficiency of red cells NANDO:2200628 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hemolytic anemia due to red cell pyruvate kinase deficiency +MONDO:0009955 rapadilino syndrome NANDO:1201058 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO RAPADILINO syndrome +MONDO:0009958 adult Refsum disease NANDO:1200769 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Refsum disease +MONDO:0009958 adult Refsum disease NANDO:2200577 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Refsum disease +MONDO:0009973 reticular dysgenesis NANDO:1200322 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Reticular dysgenesis +MONDO:0009973 reticular dysgenesis NANDO:2200695 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Reticular dysgenesis +MONDO:0010002 Rothmund-Thomson syndrome NANDO:1200671 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Rothmund-Thomson syndrome +MONDO:0010006 Sandhoff disease NANDO:1200072 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sandhoff disease +MONDO:0010006 Sandhoff disease NANDO:2201200 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sandhoff disease +MONDO:0010011 schizencephaly NANDO:1201073 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Schizencephaly +MONDO:0010011 schizencephaly NANDO:2200818 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Schizencephaly +MONDO:0010012 autoimmune polyendocrinopathy type 2 NANDO:2200347 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autoimmune polyendocrinopathy type 2 +MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency NANDO:1200327 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Zap-70 deficiency +MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency NANDO:2200700 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO ZAP-70 deficiency +MONDO:0010027 free sialic acid storage disease, infantile form NANDO:1200147 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Infantile free sialic acid storage disease +MONDO:0010027 free sialic acid storage disease, infantile form NANDO:2201237 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Infantile free sialic acid storage disease +MONDO:0010030 Sjogren syndrome NANDO:1200279 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sjogren's syndrome +MONDO:0010030 Sjogren syndrome NANDO:1200280 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Primary Sjogren's syndrome +MONDO:0010030 Sjogren syndrome NANDO:2200420 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sjogren's syndrome +MONDO:0010031 Sjogren-Larsson syndrome NANDO:1200620 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sjögren-Larsson syndrome +MONDO:0010031 Sjogren-Larsson syndrome NANDO:2200994 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sjögren-Larsson syndrome +MONDO:0010035 Smith-Lemli-Opitz syndrome NANDO:1200961 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Smith-lemli-opitz syndrome +MONDO:0010035 Smith-Lemli-Opitz syndrome NANDO:2200979 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Smith-Lemli-Opitz syndrome +MONDO:0010038 growth delay due to insulin-like growth factor I resistance NANDO:2200320 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO IGF1 insensitivity +MONDO:0010056 spinal muscular atrophy, type IV NANDO:1200007 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Spinal muscular atrophy type IV +MONDO:0010066 familial isolated congenital asplenia NANDO:2200775 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Isolated congenital asplenia +MONDO:0010078 spondyloperipheral dysplasia NANDO:2201351 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Spondyloperipheral dysplasia +MONDO:0010079 Canavan disease NANDO:1200948 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Canavan disease +MONDO:0010079 Canavan disease NANDO:2200834 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Canavan disease +MONDO:0010083 succinic semialdehyde dehydrogenase deficiency NANDO:2200599 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Succinic semialdehyde dehydrogenase deficiency +MONDO:0010088 mucosulfatidosis NANDO:1200083 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Multiple sulfatase deficiency +MONDO:0010088 mucosulfatidosis NANDO:1200624 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Multiple sulfatase deficiency +MONDO:0010088 mucosulfatidosis NANDO:2200566 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Multiple sulfatase deficiency +MONDO:0010089 isolated sulfite oxidase deficiency NANDO:2200583 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sulfite oxidase deficiency +MONDO:0010099 Tay-Sachs disease AB variant NANDO:1200073 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO GM2 gangliosidosis AB variant +MONDO:0010099 Tay-Sachs disease AB variant NANDO:2201201 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO GM2 gangliosidosis AB variant +MONDO:0010100 Tay-Sachs disease NANDO:1200071 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tay-Sachs disease +MONDO:0010100 Tay-Sachs disease NANDO:2201199 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tay-Sachs disease +MONDO:0010119 obsolete Glanzmann's thrombasthenia NANDO:2200657 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Thrombasthenia +MONDO:0010119 obsolete Glanzmann's thrombasthenia NANDO:2200664 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO ITGA2B/ITGB3 mutations +MONDO:0010121 thrombocytopenia-absent radius syndrome NANDO:2200661 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Thrombocytopenia with absent radii +MONDO:0010122 congenital thrombotic thrombocytopenic purpura NANDO:1200317 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital thrombotic thrombocytopenic purpura +MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive NANDO:1200395 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Resistance to thyroid hormone +MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive NANDO:2100121 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Resistance to thyroid hormone +MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive NANDO:2200341 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Resistance to thyroid hormone +MONDO:0010155 Dorfman-Chanarin disease NANDO:1200622 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dorfman-Chanarin syndrome +MONDO:0010155 Dorfman-Chanarin disease NANDO:1200623 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neutral lipid storage disease with ichthyosis +MONDO:0010155 Dorfman-Chanarin disease NANDO:2200997 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dorfman-Chanarin syndrome +MONDO:0010160 tyrosinemia type II NANDO:1200789 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tyrosinemia type 2 +MONDO:0010160 tyrosinemia type II NANDO:2200469 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tyrosinemia type 2 +MONDO:0010161 tyrosinemia type I NANDO:1200788 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tyrosinemia type 1 +MONDO:0010161 tyrosinemia type I NANDO:2200468 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tyrosinemia type 1 +MONDO:0010162 tyrosinemia type III NANDO:1200790 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tyrosinemia type 3 +MONDO:0010162 tyrosinemia type III NANDO:2200470 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tyrosinemia type 3 +MONDO:0010168 Usher syndrome type 1 NANDO:1200942 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Usher syndrome type I +MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF NANDO:2201110 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Methylmalonic acidemia and homocystinuria cblF type +MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC NANDO:1201040 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Homocystinuria type 2 +MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC NANDO:2201107 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Methylmalonic aciduria and homocystinuria, cblC type +MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD NANDO:1200797 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Methylmalonic acidemia CblD type +MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD NANDO:2201108 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Methylmalonic acidemia CblD type +MONDO:0010188 familial isolated deficiency of vitamin E NANDO:1200050 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ataxia with isolated vitamin E deficiency +MONDO:0010193 Weaver syndrome NANDO:1200659 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Weaver syndrome +MONDO:0010193 Weaver syndrome NANDO:2200957 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Weaver syndrome +MONDO:0010196 Werner syndrome NANDO:1200676 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Werner syndrome +MONDO:0010196 Werner syndrome NANDO:2200831 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Werner syndrome +MONDO:0010200 Wilson disease NANDO:1200655 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Wilson disease +MONDO:0010200 Wilson disease NANDO:2200579 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Wilson disease +MONDO:0010226 46,XY sex reversal 2 NANDO:1200404 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO DAX1 abnormality +MONDO:0010246 developmental and epileptic encephalopathy, 9 NANDO:1200599 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO PCDH19-related syndrome +MONDO:0010247 X-linked cerebral adrenoleukodystrophy NANDO:1200166 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Childhood cerebral adrenoleukodystrophy +MONDO:0010247 X-linked cerebral adrenoleukodystrophy NANDO:2201246 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Childhood cerebral adrenoleukodystrophy +MONDO:0010264 X-linked adrenal hypoplasia congenita NANDO:1200403 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital adrenal hypoplasia +MONDO:0010264 X-linked adrenal hypoplasia congenita NANDO:2200357 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital adrenal hypoplasia +MONDO:0010281 Danon disease NANDO:1200145 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Danon disease +MONDO:0010281 Danon disease NANDO:1200222 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Danon disease +MONDO:0010283 syndromic X-linked intellectual disability Lubs type NANDO:2200984 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO MECP2 duplication syndrome +MONDO:0010293 ectodermal dysplasia and immune deficiency NANDO:1200360 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Anhidrotic ectodermal dysplasia with immunodeficiency +MONDO:0010293 ectodermal dysplasia and immune deficiency NANDO:2200761 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Anhidrotic ectodermal dysplasia with immunodeficiency +MONDO:0010294 X-linked severe congenital neutropenia NANDO:2200753 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO X linked severe congenital neutropenia +MONDO:0010298 Lesch-Nyhan syndrome NANDO:2200586 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lesch-Nyhan syndrome +MONDO:0010305 creatine transporter deficiency NANDO:1201035 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Creatine transporter deficiency +MONDO:0010305 creatine transporter deficiency NANDO:2201301 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO SLC6A8 deficiency +MONDO:0010311 Becker muscular dystrophy NANDO:1200489 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Becker muscular dystrophy +MONDO:0010311 Becker muscular dystrophy NANDO:2200865 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Becker muscular dystrophy +MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency NANDO:1200321 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO X-linked severe combined immunodeficiency +MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency NANDO:2200694 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO X-linked severe combined immunodeficiency +MONDO:0010354 Allan-Herndon-Dudley syndrome NANDO:1200580 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Allan-Herndon-Dudley syndrome +MONDO:0010354 Allan-Herndon-Dudley syndrome NANDO:2201292 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Allan-Herndon-Dudley syndrome +MONDO:0010362 glycogen storage disease IXd NANDO:1200830 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage diseases type IXd +MONDO:0010362 glycogen storage disease IXd NANDO:2201167 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage disease type IXd +MONDO:0010382 fragile X-associated tremor/ataxia syndrome NANDO:1200690 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fragile X syndrome related diseases +MONDO:0010382 fragile X-associated tremor/ataxia syndrome NANDO:1200691 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fragile X tremor/ataxia syndrome +MONDO:0010383 fragile X syndrome NANDO:1200692 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fragile X syndrome +MONDO:0010383 fragile X syndrome NANDO:2100224 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fragile X syndrome +MONDO:0010383 fragile X syndrome NANDO:2200840 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fragile X syndrome +MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency NANDO:2201279 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO gp91phox-deficient chronic granulomatous disease +MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency NANDO:1200831 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Phosphoglycerate kinase deficiency +MONDO:0010420 X-linked erythropoietic protoporphyria NANDO:1200818 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO X-linked dominant protoporphyria +MONDO:0010420 X-linked erythropoietic protoporphyria NANDO:2201269 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO X-linked dominant protoporphyria +MONDO:0010421 Bruton-type agammaglobulinemia NANDO:1200343 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO X-linked agammaglobulinemia +MONDO:0010421 Bruton-type agammaglobulinemia NANDO:2200716 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO X-linked agammaglobulinemia +MONDO:0010434 synovial sarcoma NANDO:2200061 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Synovial sarcoma +MONDO:0010518 Wiskott-Aldrich syndrome NANDO:1200330 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Wiskott-Aldrich syndrome +MONDO:0010518 Wiskott-Aldrich syndrome NANDO:2200704 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Wiskott-Aldrich syndrome +MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome NANDO:1200665 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO ATR-X syndrome +MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome NANDO:2100223 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO ATR-X syndrome +MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome NANDO:2200839 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO ATR-X syndrome +MONDO:0010526 Fabry disease NANDO:1200157 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fabry disease +MONDO:0010526 Fabry disease NANDO:2200563 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fabry disease +MONDO:0010543 Barth syndrome NANDO:1200991 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 3-methylglutaconicaciduria type II +MONDO:0010543 Barth syndrome NANDO:2200751 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Barth syndrome +MONDO:0010555 X-linked chondrodysplasia punctata 1 NANDO:2201356 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO X-linked recessive brachytelephalangic chondrodysplasia punctata +MONDO:0010555 X-linked chondrodysplasia punctata 1 NANDO:2201360 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Brachytelephalangic chondrodysplasia punctata +MONDO:0010561 Coffin-Lowry syndrome NANDO:1200660 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Coffin-Lowry syndrome +MONDO:0010561 Coffin-Lowry syndrome NANDO:2200952 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Coffin-Lowry syndrome +MONDO:0010568 Aicardi syndrome NANDO:1200562 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aicardi syndrome +MONDO:0010572 occipital horn syndrome NANDO:1200654 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Occipital horn syndrome +MONDO:0010572 occipital horn syndrome NANDO:2200581 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Occipital horn syndrome +MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome NANDO:2200924 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO IPEX syndrome +MONDO:0010598 glycogen storage disease IXa1 NANDO:1200847 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hepatic glycogen storage disease type IXa +MONDO:0010598 glycogen storage disease IXa1 NANDO:2201164 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage disease type IXa +MONDO:0010602 hemophilia A NANDO:2200676 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hemophilia A +MONDO:0010604 hemophilia B NANDO:2200677 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hemophilia B +MONDO:0010613 inborn glycerol kinase deficiency NANDO:2200505 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycerol kinase deficiency +MONDO:0010619 X-linked dominant hypophosphatemic rickets NANDO:1200779 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Vitamin D-resistant rickets +MONDO:0010621 CHILD syndrome NANDO:1200629 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO CHILD syndrome +MONDO:0010621 CHILD syndrome NANDO:2200998 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO CHILD syndrome +MONDO:0010621 CHILD syndrome NANDO:2201358 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO CHILD syndrome +MONDO:0010622 recessive X-linked ichthyosis NANDO:1200625 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Recessive X-linked ichtyosis +MONDO:0010627 X-linked lymphoproliferative syndrome NANDO:1200351 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO X-linked lymphoproliferative syndrome +MONDO:0010627 X-linked lymphoproliferative syndrome NANDO:2200725 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO X-linked lymphoproliferative syndrome +MONDO:0010631 incontinentia pigmenti NANDO:2200974 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Incontinentia pigmenti +MONDO:0010645 oculocerebrorenal syndrome NANDO:2100028 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lowe syndrome +MONDO:0010645 oculocerebrorenal syndrome NANDO:2200188 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lowe syndrome +MONDO:0010651 Menkes disease NANDO:1200653 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Menkes disease +MONDO:0010651 Menkes disease NANDO:2200580 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Menkes disease +MONDO:0010674 mucopolysaccharidosis type 2 NANDO:1200097 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hunter syndrome +MONDO:0010674 mucopolysaccharidosis type 2 NANDO:2200548 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mucopolysaccharidosis type II +MONDO:0010679 Duchenne muscular dystrophy NANDO:1200488 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Duchenne muscular dystrophy +MONDO:0010679 Duchenne muscular dystrophy NANDO:2200856 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Duchenne muscular dystrophy +MONDO:0010684 X-linked myopathy with excessive autophagy NANDO:1200223 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO X-linked Myopathy with excessive autophagy +MONDO:0010703 ornithine carbamoyltransferase deficiency NANDO:1200804 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ornithine transcarbamylase deficiency +MONDO:0010703 ornithine carbamoyltransferase deficiency NANDO:2200479 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ornithine transcarbamylase deficiency +MONDO:0010713 properdin deficiency, X-linked NANDO:2200789 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Properdin deficiency +MONDO:0010714 Pelizaeus-Merzbacher disease NANDO:1200576 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pelizaeus-Merzbacher disease +MONDO:0010714 Pelizaeus-Merzbacher disease NANDO:2201288 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pelizaeus-Merzbacher disease +MONDO:0010725 X-linked retinoschisis NANDO:1200938 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO X-linked juvenile retinoschisis +MONDO:0010726 Rett syndrome NANDO:1200603 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Rett syndrome +MONDO:0010726 Rett syndrome NANDO:1200604 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Typical Rett syndrome +MONDO:0010726 Rett syndrome NANDO:2100219 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Rett syndrome +MONDO:0010726 Rett syndrome NANDO:2200825 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Rett syndrome +MONDO:0010731 Simpson-Golabi-Behmel syndrome NANDO:2200978 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Simpson-Golabi-Behmel syndrome +MONDO:0010735 Kennedy disease NANDO:1200001 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Spinal and bulbar muscular atrophy +MONDO:0010747 X-linked dystonia-parkinsonism NANDO:1200514 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dystonia 3 +MONDO:0010778 cyclic vomiting syndrome NANDO:2100258 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cyclic vomiting syndrome +MONDO:0010778 cyclic vomiting syndrome NANDO:2200919 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cyclic vomiting syndrome +MONDO:0010787 Kearns-Sayre syndrome NANDO:1201064 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Kearns-Sayre syndrome +MONDO:0010787 Kearns-Sayre syndrome NANDO:2200529 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Kearns-Sayre syndrome +MONDO:0010788 Leber hereditary optic neuropathy NANDO:1200178 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Leber hereditary optic neuropathy +MONDO:0010788 Leber hereditary optic neuropathy NANDO:1200940 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Leber hereditary optic neuropathy +MONDO:0010789 MELAS syndrome NANDO:1200176 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome +MONDO:0010789 MELAS syndrome NANDO:2200525 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) +MONDO:0010790 MERRF syndrome NANDO:1200177 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myoclonus epilepsy associated with ragged-red fibers +MONDO:0010790 MERRF syndrome NANDO:2200526 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myoclonus epilepsy associated with ragged-red fibers +MONDO:0010808 fatal familial insomnia NANDO:1200191 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fatal familial insomnia +MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 NANDO:1200772 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Rhizomelic chondrodysplasia punctata type 3 +MONDO:0010829 CARASIL syndrome NANDO:1200544 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy +MONDO:0010857 semantic dementia NANDO:1200550 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Semantic dementia +MONDO:0010894 maturity-onset diabetes of the young type 3 NANDO:2201071 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Maturity-onset diabetes of the young type 3 +MONDO:0010911 prolactin-producing pituitary gland adenoma NANDO:1200378 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Diencephalo-hypophysial insufficiency-inappropriate prolactin syndrome +MONDO:0010913 Caroli disease NANDO:2200934 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Caroli disease +MONDO:0010931 vitamin D-dependent rickets, type 2B NANDO:1200779 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Vitamin D-resistant rickets +MONDO:0010940 inherited susceptibility to asthma NANDO:2100031 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Bronchial asthma +MONDO:0010940 inherited susceptibility to asthma NANDO:2200197 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Bronchial asthma +MONDO:0010947 Budd-Chiari syndrome NANDO:1200437 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Budd-Chiari syndrome +MONDO:0010983 dystonia 9 NANDO:1200520 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dystonia 9 +MONDO:0011014 pleuropulmonary blastoma NANDO:2200080 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pleuropulmonaryblastoma +MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome NANDO:1200526 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss +MONDO:0011093 mucopolysaccharidosis type 9 NANDO:1200115 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hyaluronidase deficiency +MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type NANDO:1200652 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome +MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type NANDO:2201262 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome +MONDO:0011147 chromosome 18q deletion syndrome NANDO:1200579 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 18q-syndrome +MONDO:0011147 chromosome 18q deletion syndrome NANDO:2201291 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 18q-syndrome +MONDO:0011156 progressive familial intrahepatic cholestasis type 2 NANDO:1201044 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Progressive familial intrahepatic cholestasis type 2 +MONDO:0011200 torsion dystonia 7 NANDO:1200518 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dystonia 7 +MONDO:0011214 progressive familial intrahepatic cholestasis type 3 NANDO:1201045 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Progressive familial intrahepatic cholestasis type 3 +MONDO:0011230 ossification of the posterior longitudinal ligament of the spine NANDO:1200371 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ossification of posterior longitudinal ligament +MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome NANDO:2200823 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Megalencephaly-capillary malformation syndrome +MONDO:0011264 torsion dystonia 6 NANDO:1200517 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dystonia 6 +MONDO:0011269 psoriasis 2 NANDO:2200443 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO CARD14 deficiency +MONDO:0011273 H syndrome NANDO:2200457 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO SLC29A3 deficiency +MONDO:0011281 congenital myasthenic syndrome 5 NANDO:1201056 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO End-plate acetylcholine esterase deficiency +MONDO:0011301 pseudohypoparathyroidism type 1B NANDO:1201076 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pseudohypoparathyroidism type 1B +MONDO:0011326 citrullinemia, type II, adult-onset NANDO:1200980 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Adult-onset type II citrullinemia +MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 NANDO:2200730 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Syntaxin 11 deficiency +MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 NANDO:2200728 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Perforin deficiency +MONDO:0011338 Omenn syndrome NANDO:1200324 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Omenn syndrome +MONDO:0011338 Omenn syndrome NANDO:2200697 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Omenn syndrome +MONDO:0011340 congenital tracheal stenosis NANDO:1201003 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital tracheal stenosis +MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type NANDO:1200681 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Young-Simpson syndrome +MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type NANDO:2200982 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Young-Simpson syndrome +MONDO:0011380 obsolete leukoencephalopathy with vanishing white matter NANDO:1200951 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Vanishing white matter disease +MONDO:0011380 obsolete leukoencephalopathy with vanishing white matter NANDO:2200838 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Vanishing white matter disease +MONDO:0011382 sickle cell anemia NANDO:2200624 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sickle cell disease +MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts NANDO:1200950 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Megaloencephalic leukoencephalopathy with subcortical cysts +MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts NANDO:2200837 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Megaloencephalic leukoencephalopathy with subcortical cysts +MONDO:0011399 alpha thalassemia NANDO:2201273 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO α-thalassemia +MONDO:0011405 poikiloderma with neutropenia NANDO:2200749 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Clericuzio-type poikiloderma with neutropenia syndrome +MONDO:0011426 aceruloplasminemia NANDO:1200540 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neurodegeneration with brain iron accumulation type 4 +MONDO:0011426 aceruloplasminemia NANDO:2200582 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aceruloplasminemia +MONDO:0011429 juvenile idiopathic arthritis NANDO:1200469 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Juvenile idiopathic arthritis +MONDO:0011429 juvenile idiopathic arthritis NANDO:2200415 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Juvenile idiopathic arthritis +MONDO:0011449 Salla disease NANDO:1200149 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Salla disease +MONDO:0011449 Salla disease NANDO:1200582 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Salla disease +MONDO:0011449 Salla disease NANDO:2201294 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Salla disease +MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome NANDO:1200868 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pyogenic arthritis, pyoderma gangrenosum, acne syndrome +MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome NANDO:2200437 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pyogenic arthritis, pyoderma gangrenosum, acne syndrome +MONDO:0011469 congenital amegakaryocytic thrombocytopenia NANDO:2200651 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital amegakaryocytic thrombocytopenia +MONDO:0011476 MHC class I deficiency NANDO:1200328 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO MHC class I deficiency +MONDO:0011476 MHC class I deficiency NANDO:2200701 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO MHC class I deficiency +MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis NANDO:2201352 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mild spondyloepiphyseal dysplasia with premature-onset arthrosis +MONDO:0011514 tricuspid atresia NANDO:1200706 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tricuspid atresia +MONDO:0011514 tricuspid atresia NANDO:1200962 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital tricuspid stenosis +MONDO:0011514 tricuspid atresia NANDO:2100073 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tricuspid atresia +MONDO:0011514 tricuspid atresia NANDO:2200251 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tricuspid atresia +MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome NANDO:2200660 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital thrombocytopenia with radio-ulnar synostosis +MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency NANDO:1200979 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neonatal intrahepatic cholestasis caused by citrin deficiency +MONDO:0011603 GNE myopathy NANDO:1200218 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Distal myopathy with rimmed vacuoles +MONDO:0011612 glycine encephalopathy NANDO:1200984 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Nonketotic hyperglycinemia +MONDO:0011612 glycine encephalopathy NANDO:2200476 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Nonketotic hyperglycinemia +MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency NANDO:2200498 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 3-hydroxy-3-methylglutaryl-CoA synthase deficiency +MONDO:0011628 propionic acidemia NANDO:1200792 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Propionic acidemia +MONDO:0011628 propionic acidemia NANDO:2200492 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Propionic acidemia +MONDO:0011638 neuroferritinopathy NANDO:1200539 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neurodegeneration with brain iron accumulation type 3 +MONDO:0011638 neuroferritinopathy NANDO:1200542 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neuroferritinopathy +MONDO:0011655 alveolar soft part sarcoma NANDO:2200063 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Alveolar soft part sarcoma +MONDO:0011664 immunodeficiency due to CD25 deficiency NANDO:2200736 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Immunodeficiency 41 with lymphoproliferation and autoimmunity +MONDO:0011667 maturity-onset diabetes of the young type 4 NANDO:2201072 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Maturity-onset diabetes of the young type 4 +MONDO:0011705 lymphangioleiomyomatosis NANDO:1200430 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lymphangioleiomyomatosis +MONDO:0011724 encephalopathy due to GLUT1 deficiency NANDO:1200799 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glucose transporter 1 deficiency +MONDO:0011724 encephalopathy due to GLUT1 deficiency NANDO:2200545 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glucose transporter 1 deficiency +MONDO:0011730 fumaric aciduria NANDO:2200520 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fumarase deficiency +MONDO:0011731 glucose-galactose malabsorption NANDO:2200909 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glucose-galactose malabsorption +MONDO:0011758 Hurler syndrome NANDO:1200094 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hurler syndrome +MONDO:0011758 Hurler syndrome NANDO:2201168 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hurler Disease +MONDO:0011759 Hurler-Scheie syndrome NANDO:1200096 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hurler-Scheie syndrome +MONDO:0011759 Hurler-Scheie syndrome NANDO:2201170 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hurler-Scheie disease +MONDO:0011760 Scheie syndrome NANDO:1200095 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Scheie syndrome +MONDO:0011760 Scheie syndrome NANDO:2201169 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Scheie disease +MONDO:0011776 CINCA syndrome NANDO:1200468 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic infantile neurological cutaneous articular syndrome +MONDO:0011776 CINCA syndrome NANDO:2201066 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic infantile neurological cutaneous articular syndrome +MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B NANDO:2200740 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Caspase-8 deficiency +MONDO:0011826 glucocorticoid deficiency 2 NANDO:1200409 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO MRAP deficiency +MONDO:0011827 patent ductus arteriosus NANDO:2100084 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Patent ductus arteriosus +MONDO:0011827 patent ductus arteriosus NANDO:2200264 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Patent ductus arteriosus +MONDO:0011844 myoclonic dystonia 15 NANDO:1200528 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dystonia 15 +MONDO:0011849 psoriatic arthritis NANDO:2201059 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Psoriatic juvenile idiopathic arthritis +MONDO:0011871 Niemann-Pick disease type B NANDO:1200062 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Niemann-Pick disease type B +MONDO:0011871 Niemann-Pick disease type B NANDO:2201207 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Niemann-Pick disease type B +MONDO:0011872 Griscelli syndrome type 2 NANDO:2200732 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Griscelli syndrome type 2 +MONDO:0011886 torsion dystonia 13 NANDO:1200527 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dystonia 13 +MONDO:0011888 immunodeficiency 67 NANDO:1200361 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO IRAK4 deficiency +MONDO:0011888 immunodeficiency 67 NANDO:2200762 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO IRAK4 deficiency +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome NANDO:1200585 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ataxia, delayed dentition, and hypomyelination syndrome +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome NANDO:2201297 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ataxia, delayed dentition, and hypomyelination syndrome +MONDO:0011908 juvenile myelomonocytic leukemia NANDO:2200014 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic myelomonocytic leukemia +MONDO:0011908 juvenile myelomonocytic leukemia NANDO:2200015 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Juvenile myelomonocytic leukemia +MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A NANDO:2200861 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Merosin-deficient congenital muscular dystrophy +MONDO:0011929 chromosome 1p36 deletion syndrome NANDO:1200682 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 1p36 deletion syndrome +MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation NANDO:2200744 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Spondylo enchondro-dysplasiawith immune dysregulation +MONDO:0011975 paternal uniparental disomy of chromosome 14 NANDO:1200685 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Paternal uniparental disomy of chromosome 14 +MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive NANDO:2200013 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic myeloid leukemia +MONDO:0011997 Hermansky-Pudlak syndrome 2 NANDO:2200733 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hermansky-Pudlak syndrome type 2 +MONDO:0012084 aromatic L-amino acid decarboxylase deficiency NANDO:1200988 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aromatic L-amino acid decarboxylase deficiency +MONDO:0012084 aromatic L-amino acid decarboxylase deficiency NANDO:2200596 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aromatic L-amino acid decarboxylase deficiency +MONDO:0012104 acquired partial lipodystrophy NANDO:1200862 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acquired partial lipodystrophy +MONDO:0012105 granulomatosis with polyangiitis NANDO:1200263 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Granulomatosis with polyangiitis +MONDO:0012105 granulomatosis with polyangiitis NANDO:1201009 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Systemic granulomatosis with polyangiitis +MONDO:0012105 granulomatosis with polyangiitis NANDO:2200424 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Granulomatosis with polyangiitis +MONDO:0012126 familial avascular necrosis of femoral head NANDO:1200373 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Idiopathic osteonecrosis of femoral head +MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form NANDO:2201132 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neonatal-onset carnitine palmitoyltransferase II deficiency +MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 NANDO:2200729 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO UNC13D/Munc13-4 deficiency +MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation NANDO:1200326 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO CD8 deficiency +MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation NANDO:2200699 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO CD8 deficiency +MONDO:0012172 mitochondrial trifunctional protein deficiency NANDO:1200974 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Trifunctional protein deficiency +MONDO:0012172 mitochondrial trifunctional protein deficiency NANDO:2200515 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Trifunctional protein deficiency +MONDO:0012172 mitochondrial trifunctional protein deficiency NANDO:2201147 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Presymptomatic trifunctional protein deficiency +MONDO:0012176 Emanuel syndrome NANDO:1200689 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Emanuel syndrome +MONDO:0012184 Pierson syndrome NANDO:2200117 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pierson syndrome +MONDO:0012197 idiopathic aplastic anemia NANDO:1200296 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Idiopathic aplastic anemia +MONDO:0012197 idiopathic aplastic anemia NANDO:2201276 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Idiopathic aplastic anemia +MONDO:0012198 PCWH syndrome NANDO:1200586 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease +MONDO:0012198 PCWH syndrome NANDO:2201298 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease +MONDO:0012206 Czech dysplasia, metatarsal type NANDO:2201353 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Spondyloepiphyseal dysplasia with metatarsal shortening +MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 NANDO:1200135 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Schindler disease type I +MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 NANDO:1200136 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Schindler disease type 2 +MONDO:0012268 AIDS NANDO:2100212 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acquired immune deficiency syndrome +MONDO:0012268 AIDS NANDO:2200809 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acquired immune deficiency syndrome +MONDO:0012295 complement component 5 deficiency NANDO:2200783 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO C5 deficiency +MONDO:0012316 Majeed syndrome NANDO:2200453 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Majeed syndrome +MONDO:0012350 complement factor H deficiency NANDO:2200791 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Factor H deficiency +MONDO:0012354 platelet-type bleeding disorder 8 NANDO:2200669 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO ADP receptor deficiencies +MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency NANDO:2200771 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO MCM4 mutation +MONDO:0012412 complement component 7 deficiency NANDO:2200785 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO C7 deficiency +MONDO:0012429 Aicardi-Goutieres syndrome 2 NANDO:2200894 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aicardi-Goutieres syndrome 2 +MONDO:0012444 neurodegeneration with brain iron accumulation 2B NANDO:1200538 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neurodegeneration with brain iron accumulation type 2B +MONDO:0012455 Kleefstra syndrome NANDO:1200959 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 9q34 deletion syndrome +MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency NANDO:1200983 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Inherited glycosylphosphatidylinositol deficiency +MONDO:0012471 Aicardi-Goutieres syndrome 3 NANDO:2200895 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aicardi-Goutieres syndrome 3 +MONDO:0012481 mevalonic aciduria NANDO:1200866 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hyper IgD syndrome +MONDO:0012514 hypomyelinating leukodystrophy 5 NANDO:1200584 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypomyelination and congenital cataract +MONDO:0012514 hypomyelinating leukodystrophy 5 NANDO:2201296 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypomyelination and congenital cataract +MONDO:0012521 herpes simplex encephalitis NANDO:2200772 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Herpes simplex encephalitis +MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency NANDO:2200752 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO P14 deficiency +MONDO:0012579 autoimmune pulmonary alveolar proteinosis NANDO:1200747 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autoimmune pulmonary alveolar proteinosis +MONDO:0012579 autoimmune pulmonary alveolar proteinosis NANDO:1200748 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Idiopathic pulmonary alveolar proteinosis +MONDO:0012580 hereditary pulmonary alveolar proteinosis NANDO:1200746 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pulmonary alveolar proteinosis +MONDO:0012580 hereditary pulmonary alveolar proteinosis NANDO:1200750 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital alveolar proteinosis +MONDO:0012580 hereditary pulmonary alveolar proteinosis NANDO:2200200 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital alveolar proteinosis +MONDO:0012584 systemic lupus erythematosus, susceptibility to, 9 NANDO:2200801 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO CD21 deficiency +MONDO:0012594 complement factor I deficiency NANDO:2200790 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Factor I deficiency +MONDO:0012594 complement factor I deficiency NANDO:2200798 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Factor I deficiency +MONDO:0012603 episodic kinesigenic dyskinesia 2 NANDO:1200532 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dystonia 19 +MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 NANDO:1200533 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dystonia 20 +MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency NANDO:2201152 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage disease type 0b +MONDO:0012724 familial cold autoinflammatory syndrome 2 NANDO:2200449 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO NLRP12-associated periodic syndrome +MONDO:0012724 familial cold autoinflammatory syndrome 2 NANDO:2200454 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO NLRP12-associated periodic syndrome +MONDO:0012725 lipoprotein glomerulopathy NANDO:2200134 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lipoprotein glomerulopathy +MONDO:0012747 glycogen storage disease due to aldolase A deficiency NANDO:1200834 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage diseases type XII +MONDO:0012764 RIDDLE syndrome NANDO:1200336 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO RIDDLE syndrome +MONDO:0012764 RIDDLE syndrome NANDO:2200710 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO RIDDLE syndrome +MONDO:0012789 dystonia 16 NANDO:1200529 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dystonia 16 +MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 NANDO:1200531 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dystonia 18 +MONDO:0012817 Ewing sarcoma NANDO:2200053 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ewing's sarcoma +MONDO:0012824 hypomyelinating leukodystrophy 4 NANDO:1200581 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mitochondrial Hsp60 chaperonopathy +MONDO:0012824 hypomyelinating leukodystrophy 4 NANDO:2201293 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mitochondrial Hsp60 chaperonopathy +MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency NANDO:1200362 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO MyD88 deficiency +MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency NANDO:2200763 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO MyD88 deficiency +MONDO:0012858 primary CD59 deficiency NANDO:2200804 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Primary CD59 deficiency +MONDO:0012866 hereditary spastic paraplegia 35 NANDO:1200541 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fatty acid hydroxylase-associated neurodegeneration +MONDO:0012883 acute promyelocytic leukemia NANDO:2200007 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acute promyelocytic leukemia +MONDO:0012895 torsion dystonia 17 NANDO:1200530 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dystonia 17 +MONDO:0012901 inherited prekallikrein deficiency NANDO:2200684 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital prekallikrein deficiency +MONDO:0012905 hypomyelinating leukodystrophy 6 NANDO:1200578 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypomyelination with atrophy of the basal ganglia and cerebellum +MONDO:0012905 hypomyelinating leukodystrophy 6 NANDO:2201290 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypomyelination with atrophy of the basal ganglia and cerebellum +MONDO:0012908 complement component 6 deficiency NANDO:2200784 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO C6 deficiency +MONDO:0012911 pseudohypoparathyroidism type 1C NANDO:1201077 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pseudohypoparathyroidism type 1C +MONDO:0012912 pseudopseudohypoparathyroidism NANDO:2200348 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pseudopseudohypoparathyroidism +MONDO:0012941 inflammatory bowel disease 25 NANDO:2200448 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO IL-10RB deficiency +MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency NANDO:1200982 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sepiapterin reductase deficiency +MONDO:0012996 AGAT deficiency NANDO:1201033 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Arginine:glycine amidinotransferase deficiency +MONDO:0012996 AGAT deficiency NANDO:2201299 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO AGAT deficiency +MONDO:0012999 guanidinoacetate methyltransferase deficiency NANDO:1201034 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Guanidinoacetate methyltransferase deficiency +MONDO:0012999 guanidinoacetate methyltransferase deficiency NANDO:2201300 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO GAMT deficiency +MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis NANDO:2200439 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Deficiency of the interleukin-1-receptor antagonist +MONDO:0013024 chronic thromboembolic pulmonary hypertension NANDO:1200429 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic thromboembolic pulmonary hypertension +MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly NANDO:2200803 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO CD46 deficiency +MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency NANDO:1200835 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage diseases type XIII +MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency NANDO:1200833 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage diseases type XI +MONDO:0013059 Aicardi-Goutieres syndrome 5 NANDO:2200897 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aicardi-Goutieres syndrome 5 +MONDO:0013066 46,XY sex reversal 3 NANDO:1200405 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO SF-1 abnormality +MONDO:0013081 lymphoproliferative syndrome 1 NANDO:2200734 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO IL-2-inducible T-cell kinase deficiency +MONDO:0013091 glycogen storage disease IXc NANDO:1200849 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hepatic glycogen storage disease type IXc +MONDO:0013091 glycogen storage disease IXc NANDO:2201166 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage disease type IXc +MONDO:0013135 familial hemophagocytic lymphohistiocytosis 5 NANDO:2200731 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO STXBP2/Munc18-2 deficiency +MONDO:0013141 obsolete autosomal dominant macrothrombocytopenia TUBB1-related NANDO:2200667 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO β-1 tubulin disorders +MONDO:0013153 inflammatory bowel disease 28 NANDO:2200447 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO IL-10RA deficiency +MONDO:0013166 GABA aminotransaminase deficiency NANDO:2200598 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Gamma-amino butyrate aminotransferase deficiency +MONDO:0013171 purine nucleoside phosphorylase deficiency NANDO:1200325 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Purine nucleoside phosphorylase deficiency +MONDO:0013171 purine nucleoside phosphorylase deficiency NANDO:2200698 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Purine nucleoside phosphorylase deficiency +MONDO:0013178 congenital muscular dystrophy due to LMNA mutation NANDO:2200866 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO LMNA-related congenital muscular dystrophy +MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency NANDO:2200688 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital plasminogen activator inhibitor-1 deficiency +MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency NANDO:2200739 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Syndromic multisystem autoimmune disease due to Itch deficiency +MONDO:0013282 alpha 1-antitrypsin deficiency NANDO:1200755 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Alpha-1-antitrypsin deficiency +MONDO:0013282 alpha 1-antitrypsin deficiency NANDO:2100174 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Alpha-1-antitrypsin deficiency +MONDO:0013282 alpha 1-antitrypsin deficiency NANDO:2200611 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Alpha-1-antitrypsin deficiency +MONDO:0013291 glycogen storage disease XV NANDO:1200837 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage diseases type XV +MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency NANDO:1200402 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO P450 oxidoreductase deficiency +MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency NANDO:2200375 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO P450 oxidoreductase deficiency +MONDO:0013316 occult macular dystrophy NANDO:1200934 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Occult macular dystrophy +MONDO:0013343 C1Q deficiency NANDO:2200777 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO C1q deficiency +MONDO:0013361 congenital prothrombin deficiency NANDO:2200673 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypoprothrombinemia +MONDO:0013391 sterol carrier protein 2 deficiency NANDO:1200767 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sterol carrier protein 2 deficiency +MONDO:0013408 FADD-related immunodeficiency NANDO:2200741 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fas-associated death domain protein deficiency +MONDO:0013417 complement component 3 deficiency NANDO:2200782 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO C3 deficiency +MONDO:0013419 complement component C1s deficiency NANDO:2200779 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO C1s deficiency +MONDO:0013423 immunodeficiency due to MASP-2 deficiency NANDO:2200793 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO MASP2 deficiency +MONDO:0013433 primary sclerosing cholangitis NANDO:1200440 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Primary sclerosing cholangitis +MONDO:0013433 primary sclerosing cholangitis NANDO:2100265 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Primary sclerosing cholangitis +MONDO:0013445 complement component 9 deficiency NANDO:2200787 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO C9 deficiency +MONDO:0013467 immunodeficiency due to ficolin3 deficiency NANDO:2200794 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ficolin 3 Deficiency +MONDO:0013487 recurrent Neisseria infections due to factor D deficiency NANDO:2200788 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Factor D deficiency +MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 NANDO:2201283 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO p40phox-deficient chronic granulomatous disease +MONDO:0013571 acatalasia NANDO:1200774 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acatalasemia +MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency NANDO:2200719 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Isolated IgG subclass deficiency +MONDO:0013594 spinocerebellar ataxia type 36 NANDO:1200048 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Spinocerebellar ataxia type 36 +MONDO:0013623 platelet-type bleeding disorder 11 NANDO:2200670 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Abnormalities in platelet collagen receptors +MONDO:0013626 psoriasis 14, pustular NANDO:1200244 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acrodermatitis continua of Hallopeau +MONDO:0013626 psoriasis 14, pustular NANDO:2200452 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO IL36RN deficiency +MONDO:0013674 neurodegeneration with brain iron accumulation 4 NANDO:1200540 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neurodegeneration with brain iron accumulation type 4 +MONDO:0013681 alpha-methylacyl-CoA racemase deficiency NANDO:1200768 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Alpha-methylacyl-CoA racemase deficiency +MONDO:0013700 pancreatic triacylglycerol lipase deficiency NANDO:2200912 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lipase deficiency +MONDO:0013766 familial cold autoinflammatory syndrome 3 NANDO:2200455 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO PLCG2-associated antibody deficiency and immune dysregulation +MONDO:0013851 autosomal dominant aplasia and myelodysplasia NANDO:1200301 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Borderline between aplastic anemia and MDS +MONDO:0013862 immunodeficiency, common variable, 7 NANDO:2200801 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO CD21 deficiency +MONDO:0013869 adenine phosphoribosyltransferase deficiency NANDO:2200587 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Adenine phosphoribosyltransferase deficiency +MONDO:0013873 IMAGe syndrome NANDO:1200406 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO IMAge syndrome +MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation NANDO:2200442 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation +MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation NANDO:2200451 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO PLCg2 deficiency +MONDO:0013968 PGM1-congenital disorder of glycosylation NANDO:1200836 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage diseases type XIV +MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis NANDO:1200726 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Primary membranoproliferative glomerulonephritis type I +MONDO:0014007 Aicardi-Goutieres syndrome 6 NANDO:2200898 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aicardi-Goutieres syndrome 6 +MONDO:0014078 platelet-type bleeding disorder 15 NANDO:2200665 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO ACTN1 mutations +MONDO:0014252 familial hypobetalipoproteinemia 1 NANDO:1201037 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Homozygous familial hypobetalipoproteinemia 1 +MONDO:0014253 obsolete autoimmune lymphoproliferative syndrome type 3 NANDO:2200743 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO PKC-δ deficiency +MONDO:0014255 complement factor b deficiency NANDO:2200797 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Factor B deficiency +MONDO:0014306 vasculitis due to ADA2 deficiency NANDO:1200995 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Adenosine deaminase 2 deficiency +MONDO:0014306 vasculitis due to ADA2 deficiency NANDO:2200441 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Adenosine deaminase 2 deficiency +MONDO:0014306 vasculitis due to ADA2 deficiency NANDO:2200450 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Deficiency of the enzyme ADA2 +MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 NANDO:1201046 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Progressive familial intrahepatic cholestasis type 4 +MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure NANDO:1200952 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Leukoencephalopathy, progressive, with ovarian failure +MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency NANDO:2200766 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO HOIL-1 deficiency +MONDO:0014421 glucocorticoid resistance NANDO:2200358 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glucocorticoid resistance +MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome NANDO:1200994 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO NLRC4 mutation +MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome NANDO:2200459 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO NLRC4 mutation +MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection NANDO:2200770 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO STAT2 deficiency +MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome NANDO:2200985 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Takenouchi-Kosaki syndrome +MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 NANDO:1201047 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Progressive familial intrahepatic cholestasis type 5 +MONDO:0014945 myopathy, distal, with rimmed vacuoles NANDO:1200218 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Distal myopathy with rimmed vacuoles +MONDO:0015075 thyroid gland carcinoma NANDO:2200074 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Thyroid cancer +MONDO:0015104 porphyria cutanea tarda NANDO:1200816 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Porphyria cutanea tarda +MONDO:0015104 porphyria cutanea tarda NANDO:2201267 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Porphyria cutanea tarda +MONDO:0015129 chronic primary adrenal insufficiency NANDO:1200411 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Addison's disease +MONDO:0015129 chronic primary adrenal insufficiency NANDO:2200359 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Other chronic adrenal insufficiency +MONDO:0015129 chronic primary adrenal insufficiency NANDO:2200360 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Addison's disease +MONDO:0015131 combined immunodeficiency NANDO:2100203 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Combined immunodeficiency +MONDO:0015146 classic lissencephaly NANDO:1201068 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Agyria +MONDO:0015146 classic lissencephaly NANDO:1201069 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pachygyria +MONDO:0015149 pure hereditary spastic paraplegia NANDO:1200053 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pure hereditary spastic paraplegia +MONDO:0015150 complex hereditary spastic paraplegia NANDO:1200054 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Complex hereditary spastic paraplegia +MONDO:0015169 chronic diarrhea due to glucoamylase deficiency NANDO:2200911 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Amylase deficiency +MONDO:0015175 autoimmune pancreatitis NANDO:1200925 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autoimmune pancreatitis +MONDO:0015175 autoimmune pancreatitis NANDO:2200943 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autoimmune pancreatitis +MONDO:0015183 short bowel syndrome NANDO:2100274 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Short bowel syndrome +MONDO:0015183 short bowel syndrome NANDO:2200944 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Short bowel syndrome +MONDO:0015194 sideroblastic anemia NANDO:2100179 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sideroblastic anemia +MONDO:0015194 sideroblastic anemia NANDO:2200616 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sideroblastic anemia +MONDO:0015197 aneurysm of sinus of Valsalva NANDO:2200293 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aneurysm of sinus valsalva +MONDO:0015229 Bardet-Biedl syndrome NANDO:2200414 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Bardet-Biedl syndrome +MONDO:0015231 Bartter syndrome NANDO:2100021 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Bartter syndrome +MONDO:0015231 Bartter syndrome NANDO:2200146 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Bartter syndrome +MONDO:0015253 Diamond-Blackfan anemia NANDO:1200890 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Diamond-Blackfan anemia +MONDO:0015253 Diamond-Blackfan anemia NANDO:2200614 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital red cell aplasia +MONDO:0015264 cryptogenic organizing pneumonia NANDO:1200421 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cryptogenic organizing pneumonia +MONDO:0015265 bronchiolitis obliterans syndrome NANDO:1200745 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Bronchiolitis obliterans +MONDO:0015265 bronchiolitis obliterans syndrome NANDO:2100039 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Bronchiolitis obliterans +MONDO:0015265 bronchiolitis obliterans syndrome NANDO:2200209 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Bronchiolitis obliterans +MONDO:0015268 medullary sponge kidney NANDO:2200173 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Medullary sponge kidney +MONDO:0015273 complete atrioventricular canal NANDO:2100086 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Complete atrioventricular septal defect +MONDO:0015273 complete atrioventricular canal NANDO:2200269 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Complete atrioventricular septal defect +MONDO:0015275 partial atrioventricular canal NANDO:2200268 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Incomplete atrioventricular septal defect +MONDO:0015277 medullary thyroid gland carcinoma NANDO:2201054 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Medullary thyroid carcinoma +MONDO:0015279 chronic mucocutaneous candidiasis NANDO:1200363 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic mucocutaneous candidiasis +MONDO:0015279 chronic mucocutaneous candidiasis NANDO:2200764 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic mucocutaneous candidiasis +MONDO:0015280 cardiofaciocutaneous syndrome NANDO:1200462 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO CFC Syndrome +MONDO:0015280 cardiofaciocutaneous syndrome NANDO:2200967 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO CFC Syndrome +MONDO:0015285 Carney complex NANDO:1200756 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Carney complex +MONDO:0015333 progeroid syndrome NANDO:2100221 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Progeroid syndromes +MONDO:0015337 isolated craniosynostosis NANDO:2200843 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Non-syndromic craniosynostosis +MONDO:0015339 adrenomyeloneuropathy NANDO:1200168 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Adrenomyeloneuropathy +MONDO:0015339 adrenomyeloneuropathy NANDO:2201248 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Adrenomyeloneuropathy +MONDO:0015358 hereditary motor and sensory neuropathy NANDO:2200855 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary Motor and Sensory Neuropathy +MONDO:0015369 Joubert syndrome and related disorders NANDO:1200661 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Joubert syndrome and related disorders +MONDO:0015369 Joubert syndrome and related disorders NANDO:2100218 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Joubert syndrome related disorders +MONDO:0015369 Joubert syndrome and related disorders NANDO:2200824 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Joubert syndrome related disorders +MONDO:0015375 orofaciodigital syndrome NANDO:1201051 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Oral-facial-digital syndrome +MONDO:0015395 congenital subglottic stenosis NANDO:1201004 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital subglottic stenosis +MONDO:0015395 congenital subglottic stenosis NANDO:2200190 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Laryngeal stenosis +MONDO:0015408 diffuse lymphatic malformation NANDO:1200879 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO obsolete Lymphangiomatosis +MONDO:0015408 diffuse lymphatic malformation NANDO:2201033 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lymphangiomatosis +MONDO:0015436 ring chromosome 20 NANDO:1200597 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ring chromosome 20 syndrome +MONDO:0015446 atypical coarctation of aorta NANDO:2200284 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Coarctation complex +MONDO:0015450 triatrial heart NANDO:2100083 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cor triatriatum +MONDO:0015450 triatrial heart NANDO:2200263 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cor triatriatum +MONDO:0015451 univentricular heart NANDO:1200704 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Single ventricle +MONDO:0015451 univentricular heart NANDO:2200250 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Single ventricle +MONDO:0015452 Coffin-Siris syndrome NANDO:1200670 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Coffin-Siris syndrome +MONDO:0015452 Coffin-Siris syndrome NANDO:2200977 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Coffin-Siris syndrome +MONDO:0015454 multiple carboxylase deficiency NANDO:1200820 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Multiple carboxylase deficiency +MONDO:0015454 multiple carboxylase deficiency NANDO:2200500 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Multiple carboxylase deficiency +MONDO:0015465 craniometaphyseal dysplasia NANDO:2201366 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Craniometaphyseal dysplasia +MONDO:0015469 craniosynostosis NANDO:2100227 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Craniosynostosis +MONDO:0015515 carnitine palmitoyltransferase II deficiency NANDO:1200971 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Carnitine palmitoyltransferase II deficiency +MONDO:0015515 carnitine palmitoyltransferase II deficiency NANDO:2200510 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Carnitine palmitoyltransferase II deficiency +MONDO:0015515 carnitine palmitoyltransferase II deficiency NANDO:2201133 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Infantile-onset carnitine palmitoyl transferase II deficiency +MONDO:0015515 carnitine palmitoyltransferase II deficiency NANDO:2201134 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Late-onset carnitine palmitoyltransferase II deficiency +MONDO:0015517 common variable immunodeficiency NANDO:1200344 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Common variable immunodeficiency +MONDO:0015517 common variable immunodeficiency NANDO:2200717 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Common variable immunodeficiency +MONDO:0015518 infantile bilateral striatal necrosis NANDO:2100242 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Infantile bilateral striatal necrosis +MONDO:0015518 infantile bilateral striatal necrosis NANDO:2200888 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Infantile bilateral striatal necrosis +MONDO:0015534 juvenile xanthogranuloma NANDO:2200037 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Juvenile xanthogranuloma +MONDO:0015540 hemophagocytic syndrome NANDO:2200032 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hemophagocytic lymphohistiocytosis +MONDO:0015584 febrile infection-related epilepsy syndrome NANDO:1200600 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acute encephalitis with refractory, repetitive partial seizures +MONDO:0015584 febrile infection-related epilepsy syndrome NANDO:2100249 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acute encephalitis with refractory, repetitive partial seizures +MONDO:0015584 febrile infection-related epilepsy syndrome NANDO:2200903 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acute encephalitis with refractory, repetitive partial seizures +MONDO:0015610 acquired aplastic anemia NANDO:2201277 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Secondary aplastic anemia +MONDO:0015611 neutral lipid storage disease NANDO:1200622 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dorfman-Chanarin syndrome +MONDO:0015611 neutral lipid storage disease NANDO:2200997 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dorfman-Chanarin syndrome +MONDO:0015626 Charcot-Marie-Tooth disease NANDO:1200016 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Charcot-Marie-Tooth disease +MONDO:0015626 Charcot-Marie-Tooth disease NANDO:2200855 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary Motor and Sensory Neuropathy +MONDO:0015627 multiple epiphyseal dysplasia due to collagen 9 anomaly NANDO:2201016 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Type II collagenopathy +MONDO:0015674 late infantile neuronal ceroid lipofuscinosis NANDO:1200153 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Late infantile neuronal ceroid lipofuscinosis +MONDO:0015674 late infantile neuronal ceroid lipofuscinosis NANDO:2201242 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Late infantile neuronal ceroid lipofuscinosis +MONDO:0015677 cardiac diverticulum NANDO:2200234 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aneurysm of ventricle +MONDO:0015691 hypereosinophilic syndrome NANDO:2200805 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hyper eosinophilic syndrome +MONDO:0015691 hypereosinophilic syndrome NANDO:2200806 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypereosinophilic syndrome +MONDO:0015698 transient hypogammaglobulinemia of infancy NANDO:1200349 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Transient hypogammaglobulinemia of infancy with normal numbers of B cells +MONDO:0015698 transient hypogammaglobulinemia of infancy NANDO:2200722 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Transient hypogammaglobulinemia of infancy with normal numbers of B cells +MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells NANDO:1200348 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells +MONDO:0015711 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells NANDO:2200721 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells +MONDO:0015759 B-cell non-Hodgkin lymphoma NANDO:2200020 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mature B-cell lymphoma +MONDO:0015762 progressive familial intrahepatic cholestasis NANDO:1201042 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Progressive familial intrahepatic cholestasis +MONDO:0015762 progressive familial intrahepatic cholestasis NANDO:2200933 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Progressive familial intrahepatic cholestasis +MONDO:0015770 congenital hypogonadotropic hypogonadism NANDO:1200383 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital hypogonadotropic hypogonadism +MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis NANDO:2200388 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mixed gonadal dysgenesis +MONDO:0015780 dyskeratosis congenita NANDO:1200304 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dyskeratosis congenita +MONDO:0015780 dyskeratosis congenita NANDO:1200342 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dyskeratosis congenita +MONDO:0015780 dyskeratosis congenita NANDO:2200715 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dyskeratosis congenita +MONDO:0015790 central diabetes insipidus NANDO:1200375 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Central diabetes insipidus +MONDO:0015790 central diabetes insipidus NANDO:2200324 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Central diabetes insipidus +MONDO:0015791 peripheral precocious puberty NANDO:2200378 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Non-gonadotropin-dependent precocious puberty +MONDO:0015863 polyembryoma NANDO:2200068 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Polyembryoma +MONDO:0015864 mixed germ cell tumor NANDO:2200071 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mixed germ cell tumour +MONDO:0015892 growth hormone insensitivity syndrome NANDO:2100114 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Growth hormone insensitivity +MONDO:0015892 growth hormone insensitivity syndrome NANDO:2200321 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Growth hormone insensitivity +MONDO:0015895 obsolete syndrome with hypoparathyroidism NANDO:1200775 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypoparathyroidism +MONDO:0015895 obsolete syndrome with hypoparathyroidism NANDO:2100124 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypoparathyroidism +MONDO:0015895 obsolete syndrome with hypoparathyroidism NANDO:2200345 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypoparathyroidism +MONDO:0015900 hypoaldosteronism disease NANDO:2100132 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypoaldosteronism +MONDO:0015909 aplastic anemia NANDO:1200295 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aplastic anemia +MONDO:0015909 aplastic anemia NANDO:1200301 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Borderline between aplastic anemia and MDS +MONDO:0015909 aplastic anemia NANDO:2100201 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aplastic anemia +MONDO:0015909 aplastic anemia NANDO:2200693 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aplastic anemia +MONDO:0015924 pulmonary arterial hypertension NANDO:1200425 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pulmonary arterial hypertension +MONDO:0015924 pulmonary arterial hypertension NANDO:2100103 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pulmonary arterial hypertension +MONDO:0015924 pulmonary arterial hypertension NANDO:2200298 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pulmonary arterial hypertension +MONDO:0015929 thoracic malformation NANDO:2201008 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Thoracic insufficiency syndrome +MONDO:0015943 eosinophilic granulomatosis with polyangiitis NANDO:1200264 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Eosinophilic granulomatosis with polyangiitis +MONDO:0015943 eosinophilic granulomatosis with polyangiitis NANDO:2200427 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Eosinophilic granulomatosis with polyangiitis +MONDO:0015947 inherited ichthyosis NANDO:1200609 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital ichthyosis +MONDO:0015947 inherited ichthyosis NANDO:2100283 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital ichthyosis +MONDO:0015988 multicystic dysplastic kidney NANDO:2200158 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Multicystic dysplastic kidney +MONDO:0015993 cone-rod dystrophy NANDO:1200937 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cone-rod dystrophy +MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 NANDO:1200649 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ehlers-Danlos syndrome, kyphoscoliotic type +MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 NANDO:2201259 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ehlers-Danlos syndrome, kyphoscoliotic type +MONDO:0016006 Cockayne syndrome NANDO:1200677 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cockayne syndrome +MONDO:0016006 Cockayne syndrome NANDO:2200832 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cockayne syndrome +MONDO:0016019 Rasmussen subacute encephalitis NANDO:1200598 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Rasmussen's encephalitis +MONDO:0016019 Rasmussen subacute encephalitis NANDO:2100246 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Rasmussen's encephalitis +MONDO:0016019 Rasmussen subacute encephalitis NANDO:2200900 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Rasmussen's encephalitis +MONDO:0016022 early myoclonic encephalopathy NANDO:1200594 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Early myoclonic encephalopathy +MONDO:0016025 myoclonic-astatic epilepsy NANDO:1200590 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Epilepsy with myoclonic atonic seizures +MONDO:0016030 Evans syndrome NANDO:1200310 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Evans syndrome +MONDO:0016033 Cornelia de Lange syndrome NANDO:1200960 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cornelia de lange syndrome +MONDO:0016033 Cornelia de Lange syndrome NANDO:2200958 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cornelia de Lange syndrome +MONDO:0016054 cerebral malformation NANDO:2100217 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Brain malformation +MONDO:0016063 Cowden disease NANDO:2200918 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cowden syndrome +MONDO:0016068 fibrochondrogenesis NANDO:2201016 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Type II collagenopathy +MONDO:0016079 sporadic Creutzfeldt-Jakob disease NANDO:1200187 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sporadic Creutzfeldt-Jakob disease +MONDO:0016081 coronary arterial fistulas NANDO:2200296 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Coronary artery fistula +MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency NANDO:2200586 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lesch-Nyhan syndrome +MONDO:0016089 infantile Krabbe disease NANDO:1200075 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Infantile Krabbe disease +MONDO:0016089 infantile Krabbe disease NANDO:2201216 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Infantile Krabbe disease +MONDO:0016091 adult Krabbe disease NANDO:1200077 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Adult Krabbe disease +MONDO:0016091 adult Krabbe disease NANDO:2201219 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Adult Krabbe disease +MONDO:0016107 myotonic dystrophy NANDO:1200495 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myotonic dystrophy +MONDO:0016107 myotonic dystrophy NANDO:2200864 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myotonic dystrophy +MONDO:0016110 obsolete non-dystrophic myopathy NANDO:1200496 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Non-dystrophic myotonia +MONDO:0016113 bulbospinal muscular atrophy NANDO:1200001 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Spinal and bulbar muscular atrophy +MONDO:0016118 obsolete muscular glycogenosis NANDO:1200823 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Muscle glycogen storage disease +MONDO:0016129 eosinophilic gastroenteritis NANDO:1200457 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Eosinophilic gastroenteritis +MONDO:0016147 qualitative or quantitative defects of dystrophin NANDO:1200487 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dystrophinopathies +MONDO:0016168 cryopyrin-associated periodic syndrome NANDO:1200465 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cryopyrin-associated periodic syndrome +MONDO:0016168 cryopyrin-associated periodic syndrome NANDO:2200432 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cryopyrin-associated periodic syndrome +MONDO:0016233 obsolete rare lymphatic system malformation NANDO:1200881 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Giant lymphatic malformation (cervicofacial lesion) +MONDO:0016239 cystinosis NANDO:1200161 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cystinosis +MONDO:0016239 cystinosis NANDO:2200571 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cystinosis +MONDO:0016241 alternating hemiplegia of childhood NANDO:1200403 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital adrenal hypoplasia +MONDO:0016241 alternating hemiplegia of childhood NANDO:1200525 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Alternating hemiplegia of childhood +MONDO:0016241 alternating hemiplegia of childhood NANDO:2100239 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Alternating hemiplegia of childhood +MONDO:0016241 alternating hemiplegia of childhood NANDO:2200357 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital adrenal hypoplasia +MONDO:0016241 alternating hemiplegia of childhood NANDO:2200883 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Alternating hemiplegia of childhood +MONDO:0016242 hemoglobin C disease NANDO:2200635 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hemoglobin C disease +MONDO:0016244 atypical hemolytic-uremic syndrome NANDO:1200473 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Atypical hemolytic uremic syndrome +MONDO:0016244 atypical hemolytic-uremic syndrome NANDO:1200474 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital atypical hemolytic uremic syndrome +MONDO:0016244 atypical hemolytic-uremic syndrome NANDO:2200131 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Atypical hemolytic uremic syndrome +MONDO:0016244 atypical hemolytic-uremic syndrome NANDO:2200641 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Atypical hemolytic uremic syndrome +MONDO:0016264 autoimmune hepatitis NANDO:1200441 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autoimmune hepatitis +MONDO:0016264 autoimmune hepatitis NANDO:1200442 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Typical autoimmune hepatitis +MONDO:0016264 autoimmune hepatitis NANDO:2100264 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autoimmune hepatitis +MONDO:0016281 46,XX ovotesticular disorder of sex development NANDO:2200387 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ovotesticular dsd +MONDO:0016295 neuronal ceroid lipofuscinosis NANDO:1200150 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neuronal ceroid-lipofuscinosis +MONDO:0016295 neuronal ceroid lipofuscinosis NANDO:2200573 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neuronal ceroid lipofuscinoses +MONDO:0016296 holoprosencephaly NANDO:2200819 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Holoprosencephaly +MONDO:0016301 congenitally corrected transposition of the great arteries NANDO:1200699 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Complete transposition of the great arteries +MONDO:0016301 congenitally corrected transposition of the great arteries NANDO:1200701 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Complete transposition of the great arteries (Group2) +MONDO:0016301 congenitally corrected transposition of the great arteries NANDO:1200703 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Complete transposition of the great arteries (Group4) +MONDO:0016301 congenitally corrected transposition of the great arteries NANDO:2100079 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenitally corrected transposition of the great arteries +MONDO:0016301 congenitally corrected transposition of the great arteries NANDO:2200259 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenitally corrected transposition of the great arteries +MONDO:0016303 congenitally uncorrected transposition of the great arteries with cardiac malformation NANDO:1200701 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Complete transposition of the great arteries (Group2) +MONDO:0016304 classic pantothenate kinase-associated neurodegeneration NANDO:1200535 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Classic pantothenate kinase-associated neurodegeneration +MONDO:0016305 atypical pantothenate kinase-associated neurodegeneration NANDO:1200536 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Atypical pantothenate kinase-associated neurodegeneration +MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset NANDO:1200065 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Adult-onset Niemann-Pick disease type C +MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset NANDO:2201209 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Adult-onset Niemann-Pick disease type C +MONDO:0016315 mucopolysaccharidosis type 2, severe form NANDO:1200098 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hunter syndrome type A +MONDO:0016315 mucopolysaccharidosis type 2, severe form NANDO:2201173 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mucopolysaccharidosis type II, severe form +MONDO:0016316 mucopolysaccharidosis type 2, attenuated form NANDO:1200099 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hunter syndrome type B +MONDO:0016316 mucopolysaccharidosis type 2, attenuated form NANDO:2201171 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mucopolysaccharidosis type II, attenuated form +MONDO:0016316 mucopolysaccharidosis type 2, attenuated form NANDO:2201172 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mucopolysaccharidosis type II, intermediate form +MONDO:0016318 progressive multifocal leukoencephalopathy NANDO:1200205 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Progressive multifocal leukoencephalopathy +MONDO:0016345 non-familial restrictive cardiomyopathy NANDO:1200294 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Secondary restrictive cardiomyopathy +MONDO:0016349 congenital hydrocephalus NANDO:2200822 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital hydrocephalus +MONDO:0016356 diffuse cutaneous systemic sclerosis NANDO:1201010 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Diffuse cutaneous systemic sclerosis +MONDO:0016358 limited cutaneous systemic sclerosis NANDO:1201011 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Limited cutaneous systemic sclerosis +MONDO:0016367 dermatomyositis NANDO:1200274 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dermatomyositis +MONDO:0016383 nephrogenic diabetes insipidus NANDO:1200742 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital nephrogenic diabetes insipidus +MONDO:0016383 nephrogenic diabetes insipidus NANDO:2200326 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Nephrogenic diabetes insipidus +MONDO:0016391 neonatal diabetes mellitus NANDO:2200463 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neonatal diabetes mellitus +MONDO:0016407 oligomeganephronia NANDO:2200159 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Oligomeganephronia +MONDO:0016410 central congenital hypothyroidism NANDO:1200390 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Thyroid-stimulating hormone deficiency +MONDO:0016410 central congenital hypothyroidism NANDO:2200332 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Thyroid-stimulating hormone deficiency +MONDO:0016410 central congenital hypothyroidism NANDO:2200340 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Central hypothyroidism +MONDO:0016418 multiple system atrophy, cerebellar type NANDO:1200035 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Multiple system atrophy, cerebellar type +MONDO:0016430 Balo concentric sclerosis NANDO:1200028 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Baló concentric sclerosis +MONDO:0016484 Usher syndrome type 2 NANDO:1200943 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Usher syndrome Type II +MONDO:0016485 Usher syndrome type 3 NANDO:1200944 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Usher syndrome Type III +MONDO:0016512 Kabuki syndrome NANDO:1200672 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Kabuki syndrome +MONDO:0016512 Kabuki syndrome NANDO:2200956 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Kabuki syndrome +MONDO:0016525 familial hyperaldosteronism NANDO:2200602 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Familial hypercholesterolemia +MONDO:0016532 Lennox-Gastaut syndrome NANDO:1200591 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lennox-Gastaut syndrome +MONDO:0016532 Lennox-Gastaut syndrome NANDO:2200879 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lennox-Gastaut syndrome +MONDO:0016535 hypohidrotic ectodermal dysplasia NANDO:2201005 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Anhidrotic ectodermal dysplasia +MONDO:0016536 autosomal recessive lymphoproliferative disease NANDO:2200735 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO CD27 deficiency +MONDO:0016542 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome NANDO:2200446 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO IL10 deficiency +MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency NANDO:1200786 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tetrahydrobiopterin deficiency +MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency NANDO:2200594 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tetrahydrobiopterin deficiency +MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency NANDO:2201076 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO BH4 deficiency +MONDO:0016575 primary ciliary dyskinesia NANDO:2100034 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Primary ciliary dyskinesia +MONDO:0016575 primary ciliary dyskinesia NANDO:2200203 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Primary ciliary dyskinesia +MONDO:0016575 primary ciliary dyskinesia NANDO:2200204 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Kartagener syndrome +MONDO:0016581 conotruncal heart malformations NANDO:2200275 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Double-chambered right ventricle +MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy NANDO:2100055 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Arrhythmogenic right ventricular cardiomyopathy or dysplasia +MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy NANDO:2200230 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Arrhythmogenic right ventricular cardiomyopathy or dysplasia +MONDO:0016594 superficial siderosis NANDO:1200543 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Superficial siderosis +MONDO:0016597 obsolete generalized pustular psoriasis NANDO:1200240 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pustular psoriasis +MONDO:0016600 acute neonatal citrullinemia type I NANDO:2201094 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neonatal-onset argininosuccinate synthetase deficiency +MONDO:0016601 adult-onset citrullinemia type I NANDO:2201095 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Late-onset argininosuccinate synthetase deficiency +MONDO:0016602 citrin deficiency NANDO:1200978 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Citrin deficiency +MONDO:0016602 citrin deficiency NANDO:2200483 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Citrin deficiency +MONDO:0016603 citrullinemia type II NANDO:1200980 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Adult-onset type II citrullinemia +MONDO:0016620 primary hypertrophic osteoarthropathy NANDO:1200642 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pachydermoperiostosis +MONDO:0016620 primary hypertrophic osteoarthropathy NANDO:2100288 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pachydermoperiostosis +MONDO:0016620 primary hypertrophic osteoarthropathy NANDO:2201004 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pachydermoperiostosis +MONDO:0016642 meningioma NANDO:2200094 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Meningioma +MONDO:0016684 anaplastic astrocytoma NANDO:2200086 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Anaplastic astrocytoma +MONDO:0016686 diffuse astrocytoma NANDO:2200085 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Diffuse astrocytoma +MONDO:0016691 pilocytic astrocytoma NANDO:2200084 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pilocytic astrocytoma +MONDO:0016695 oligodendroglioma NANDO:2200089 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Oligodendroglioma +MONDO:0016698 ependymoma NANDO:2200088 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ependymoma +MONDO:0016723 pineocytoma NANDO:2200092 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pineocytoma +MONDO:0016730 gangliocytoma NANDO:2200097 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Gangliocytoma +MONDO:0016733 ganglioglioma NANDO:2200096 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ganglioglioma +MONDO:0016793 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA NANDO:2200524 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Diseases due to mitochondrial DNA mutation +MONDO:0016812 dopa-responsive dystonia NANDO:1200516 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dystonia 5 +MONDO:0016812 dopa-responsive dystonia NANDO:2200885 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Segawa syndrome +MONDO:0016820 Moyamoya disease NANDO:1200183 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Moyamoya disease +MONDO:0016820 Moyamoya disease NANDO:2100228 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Moyamoya disease +MONDO:0016820 Moyamoya disease NANDO:2200850 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Moyamoya disease +MONDO:0016830 Emery-Dreifuss muscular dystrophy NANDO:1200492 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Emery-Dreifuss muscular dystrophy +MONDO:0016830 Emery-Dreifuss muscular dystrophy NANDO:2200857 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Emery-Dreifuss muscular dystrophy +MONDO:0016952 partial duplication of the long arm of chromosome 1 NANDO:1200958 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Partial trisomy 1q +MONDO:0016971 limb-girdle muscular dystrophy NANDO:1200490 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Limb-girdle muscular dystrophy +MONDO:0016971 limb-girdle muscular dystrophy NANDO:2200858 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Limb-girdle muscular dystrophy +MONDO:0016987 neuroacanthocytosis NANDO:1200013 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neuroacanthocytosis +MONDO:0017025 Langerhans cell histiocytosis specific to childhood NANDO:2200031 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Langerhans cell histiocytosis +MONDO:0017029 Langerhans cell histiocytosis specific to adulthood NANDO:2200031 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Langerhans cell histiocytosis +MONDO:0017042 thanatophoric dysplasia NANDO:1200874 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Thanatophoric dysplasia +MONDO:0017051 classic maple syrup urine disease NANDO:2201078 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Classic form maple syrup urine disease +MONDO:0017052 intermediate maple syrup urine disease NANDO:2201079 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Intermediate maple syrup urine disease +MONDO:0017053 intermittent maple syrup urine disease NANDO:2201080 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Intermittent maple syrup urine disease +MONDO:0017054 thiamine-responsive maple syrup urine disease NANDO:2201081 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Thiamine-responsive maple syrup urine disease +MONDO:0017069 spina bifida cystica NANDO:1200509 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myelomeningocele +MONDO:0017069 spina bifida cystica NANDO:2100215 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myelomeningocele +MONDO:0017069 spina bifida cystica NANDO:2200814 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myelomeningocele +MONDO:0017079 meningoencephalocele NANDO:2200813 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Meningoencephalocele +MONDO:0017096 isolated focal cortical dysplasia type Ia NANDO:1200565 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Focal cortical dysplasia type 1a +MONDO:0017097 isolated focal cortical dysplasia type Ib NANDO:1200566 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Focal cortical dysplasia type 1b +MONDO:0017098 isolated focal cortical dysplasia type Ic NANDO:1200567 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Focal cortical dysplasia type 1c +MONDO:0017101 isolated focal cortical dysplasia type IIa NANDO:1200568 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Focal cortical dysplasia type 2a +MONDO:0017102 isolated focal cortical dysplasia type IIb NANDO:1200569 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Focal cortical dysplasia type 2b +MONDO:0017147 idiopathic pulmonary arterial hypertension NANDO:2201046 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Idiopathic pulmonary arterial hypertension +MONDO:0017148 heritable pulmonary arterial hypertension NANDO:2201047 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Familial pulmonary arterial hypertension +MONDO:0017150 obsolete pulmonary arterial hypertension associated with another disease NANDO:2201048 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Secondary pulmonary arterial hypertension +MONDO:0017160 behavioral variant of frontotemporal dementia NANDO:1200549 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Behavioral variant frontotemporal dementia +MONDO:0017169 multiple endocrine neoplasia NANDO:2100148 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Multiple endocrine neoplasia +MONDO:0017182 familial hyperinsulinism NANDO:2100143 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hyperinsulinemic hypoglycemia +MONDO:0017182 familial hyperinsulinism NANDO:2200399 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital hyperinsulinemia +MONDO:0017198 osteopetrosis NANDO:1200998 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Osteopetrosis +MONDO:0017198 osteopetrosis NANDO:2201013 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Osteopetrosis +MONDO:0017226 Pelizaeus-Merzbacher-like disease NANDO:1200577 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pelizaeus-Merzbacher like disease +MONDO:0017226 Pelizaeus-Merzbacher-like disease NANDO:2201289 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pelizaeus-Merzbacher like disease +MONDO:0017234 inherited prion disease NANDO:1200188 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Genetic prion diseases +MONDO:0017236 rapidly progressive glomerulonephritis NANDO:1200714 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Rapidly progressive glomerulonephritis +MONDO:0017236 rapidly progressive glomerulonephritis NANDO:1200723 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Crescentic glomerulonephritis +MONDO:0017265 autosomal recessive congenital ichthyosis NANDO:1200615 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autosomal recessive congenital ichthyosis excluding harlequin ichthyosis +MONDO:0017265 autosomal recessive congenital ichthyosis NANDO:2200991 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autosomal recessive congenital ichthyosis +MONDO:0017266 keratinopathic ichthyosis NANDO:1200610 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Keratinopathic ichthyosis +MONDO:0017266 keratinopathic ichthyosis NANDO:2200987 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Keratinopathic ichthyosis +MONDO:0017276 frontotemporal dementia NANDO:1200548 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Frontotemporal lobar degeneration +MONDO:0017278 autoimmune polyendocrinopathy NANDO:2100125 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autoimmune polyendocrinopathy +MONDO:0017287 IgG4-related disease NANDO:1200923 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO IgG4-related disease +MONDO:0017287 IgG4-related disease NANDO:1200924 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO IgG4-related disease +MONDO:0017314 Ehlers-Danlos syndrome, vascular type NANDO:1200648 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ehlers-Danlos syndrome, vascular type +MONDO:0017314 Ehlers-Danlos syndrome, vascular type NANDO:2201258 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ehlers-Danlos syndrome, vascular type +MONDO:0017319 hereditary elliptocytosis NANDO:2200630 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary elliptocytosis +MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency NANDO:2200536 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Phosphoenolpyruvate carboxykinase deficiency +MONDO:0017353 neonatal glycine encephalopathy NANDO:1200985 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neonatal nonketotic hyperglycinemia +MONDO:0017354 infantile glycine encephalopathy NANDO:1200986 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Infantile nonketotic hyperglycinemia +MONDO:0017359 3-methylglutaconic aciduria NANDO:1200989 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Methylglutaconic aciduria +MONDO:0017359 3-methylglutaconic aciduria NANDO:2200496 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Methylglutaconic aciduria +MONDO:0017361 congenital rubella syndrome NANDO:2200890 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital rubella syndrome +MONDO:0017364 POEMS syndrome NANDO:1200033 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Crow-Fukase syndrome +MONDO:0017380 juvenile polyposis syndrome NANDO:2200916 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Juvenile polyposis +MONDO:0017381 congenital herpes simplex virus infection NANDO:2200889 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital herpes simplex virus infection +MONDO:0017385 malignant migrating partial seizures of infancy NANDO:1200595 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Epilepsy of infancy with migrating focal seizures +MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria NANDO:1200787 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tetrahydrobiopterin-responsive hyperphenylalaninemia +MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria NANDO:2201077 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO BH4-responsive hyperphenylalaninemia +MONDO:0017398 3MC syndrome NANDO:2200792 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Malpuech-Michels-Mingarelli-Carnevale syndrome +MONDO:0017409 fetal cytomegalovirus syndrome NANDO:2200891 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital cytomegalovirus infection +MONDO:0017410 porencephaly NANDO:1201074 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Porencephaly +MONDO:0017570 leukocyte adhesion deficiency NANDO:1200355 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Leukocyte adhesion deficiency +MONDO:0017570 leukocyte adhesion deficiency NANDO:2200755 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Leukocyte adhesion deficiency +MONDO:0017574 chronic intestinal pseudoobstruction NANDO:1200458 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic idiopathic intestinal pseudo-obstruction +MONDO:0017574 chronic intestinal pseudoobstruction NANDO:2200946 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic idiopathic intestinal pseudo-obstruction +MONDO:0017608 obsolete dystrophic epidermolysis bullosa NANDO:2201343 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dystrophic epidermolysis bullosa +MONDO:0017610 epidermolysis bullosa simplex NANDO:1200235 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Epidermolysis bullosa simplex +MONDO:0017610 epidermolysis bullosa simplex NANDO:2201341 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Epidermolysis bullosa simplex +MONDO:0017610 epidermolysis bullosa simplex NANDO:2201375 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autosomal dominant epidermolysis bullosa simplex +MONDO:0017612 junctional epidermolysis bullosa NANDO:1200236 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Junctional epidermolysis bullosa +MONDO:0017612 junctional epidermolysis bullosa NANDO:2201342 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Junctional epidermolysis bullosa +MONDO:0017693 obsolete glycogen storage disease due to glycogen synthase deficiency NANDO:1200824 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage diseases type 0 +MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset NANDO:1200139 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Classic infantile Pompe disease +MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset NANDO:2201229 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Classic infantile Pompe disease +MONDO:0017695 glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form NANDO:2201159 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage disease type IV, hepatic form +MONDO:0017696 glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form NANDO:2201160 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage disease type IV, non-progressive hepatic form +MONDO:0017697 glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form NANDO:2201161 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage disease type IV, fatal neuromuscular form +MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form NANDO:2201162 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage disease type IV, childhood combined hepatic and myopathic form +MONDO:0017708 mevalonate kinase deficiency NANDO:2200436 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hyper IgD syndrome +MONDO:0017716 disorder of carnitine cycle and carnitine transport NANDO:1200969 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Carnitine cycle disorders +MONDO:0017718 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes NANDO:2200522 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mitochondrial respiratory chain disorders +MONDO:0017720 GM2 gangliosidosis NANDO:1200070 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO GM2 gangliosidosis +MONDO:0017720 GM2 gangliosidosis NANDO:2200559 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO GM2 gangliosidosis +MONDO:0017729 metachromatic leukodystrophy, late infantile form NANDO:1200079 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Late infantile metachromatic leukodystrophy +MONDO:0017729 metachromatic leukodystrophy, late infantile form NANDO:2201202 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Metachromatic leukodystrophy, late infantile form +MONDO:0017730 metachromatic leukodystrophy, adult form NANDO:1200081 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Adult metachromatic leukodystrophy +MONDO:0017730 metachromatic leukodystrophy, adult form NANDO:2201204 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Metachromatic leukodystrophy, adult form +MONDO:0017732 alpha-mannosidosis, infantile form NANDO:1200127 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Alpha-mannosidosis, infantile form +MONDO:0017732 alpha-mannosidosis, infantile form NANDO:2201188 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Alpha-mannosidosis, infantile form +MONDO:0017733 alpha-mannosidosis, adult form NANDO:1200128 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Alpha-mannosidosis, adult form +MONDO:0017733 alpha-mannosidosis, adult form NANDO:2201189 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Alpha-mannosidosis, adult form +MONDO:0017734 sialidosis NANDO:1200116 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sialidosis +MONDO:0017734 sialidosis NANDO:2200556 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sialidosis +MONDO:0017737 intermediate severe Salla disease NANDO:1200148 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Intermediate severe Salla disease +MONDO:0017737 intermediate severe Salla disease NANDO:2201238 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Intermediate severe Salla disease +MONDO:0017746 atypical Rett syndrome NANDO:1200605 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Atypical Rett syndrome +MONDO:0017773 hypoalphalipoproteinemia NANDO:2200605 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO HDL deficiency +MONDO:0017778 lamellar ichthyosis NANDO:1200617 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lamellar ichthyosis +MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency NANDO:1200134 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Schindler disease +MONDO:0017816 primary systemic amyloidosis NANDO:1200209 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Systemic amyloidosis +MONDO:0017827 malignant peripheral nerve sheath tumor NANDO:2200102 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Malignant neurinoma +MONDO:0017838 sclerosteosis NANDO:2201369 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sclerosteosis +MONDO:0017842 Senior-Loken syndrome NANDO:1201049 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Senior-Loken syndrome +MONDO:0017858 acute erythroid leukemia NANDO:2200010 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acute erythremia +MONDO:0017864 congenital pulmonary veins atresia or stenosis NANDO:1200964 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital pulmonary vein stenosis +MONDO:0017864 congenital pulmonary veins atresia or stenosis NANDO:2200273 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pulmonary venous obstruction +MONDO:0017870 supravalvular pulmonary stenosis NANDO:2200278 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Supravalvular pulmonary stenosis +MONDO:0017910 dehydrated hereditary stomatocytosis NANDO:2200633 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Stomatocytic xerocytosis +MONDO:0017979 autoimmune lymphoproliferative syndrome NANDO:1200352 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autoimmune lymphoproliferative syndrome +MONDO:0017979 autoimmune lymphoproliferative syndrome NANDO:2200726 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autoimmune lymphoproliferative syndrome +MONDO:0017986 disorder of plasmalogens biosynthesis NANDO:1200770 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Plasmalogen biosynthesis enzyme deficiency +MONDO:0017987 syringomyelia NANDO:1200506 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Syringomyelia +MONDO:0017987 syringomyelia NANDO:1200507 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Symptomatic syringomyelia +MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia NANDO:2200216 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Polymorphic ventricular premature beat +MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia NANDO:2200221 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Catecholaminergic polymorphic ventricular tachycardia +MONDO:0017991 Takayasu arteritis NANDO:1200251 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Takayasu arteritis +MONDO:0017991 Takayasu arteritis NANDO:2200423 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Takayasu arteritis +MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration NANDO:1200541 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fatty acid hydroxylase-associated neurodegeneration +MONDO:0018018 wild type ATTR amyloidosis NANDO:1200212 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Transthyretin-related senile systemic amyloidosis +MONDO:0018029 congenital factor XIII deficiency NANDO:2200681 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Factor XIII deficiency +MONDO:0018035 obsolete syndrome with combined immunodeficiency NANDO:2100203 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Combined immunodeficiency +MONDO:0018037 hyper-IgE syndrome NANDO:1200340 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hyper-IgE syndrome +MONDO:0018037 hyper-IgE syndrome NANDO:2200713 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hyper-IgE syndrome +MONDO:0018048 heparin-induced thrombocytopenia NANDO:2200648 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Heparin-induced thrombocytopenia +MONDO:0018053 trichothiodystrophy NANDO:1200627 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Trichothiodystrophy +MONDO:0018065 isolated trigonocephaly NANDO:2201305 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Non-syndromic metopic craniosynostosis +MONDO:0018068 trisomy 13 NANDO:2200964 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Trisomy 13 +MONDO:0018071 trisomy 18 NANDO:2200963 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Trisomy 18 +MONDO:0018072 persistent truncus arteriosus NANDO:1200693 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Truncus arteriosus communis +MONDO:0018072 persistent truncus arteriosus NANDO:2200261 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Truncus arteriosus communis +MONDO:0018088 familial Mediterranean fever NANDO:1200863 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Familial Mediterranean fever +MONDO:0018088 familial Mediterranean fever NANDO:2200431 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Familial Mediterranean fever +MONDO:0018089 double outlet right ventricle NANDO:1200710 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Double outlet right ventricle +MONDO:0018089 double outlet right ventricle NANDO:2100076 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Double outlet right ventricle +MONDO:0018089 double outlet right ventricle NANDO:2200256 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Double outlet right ventricle +MONDO:0018090 double outlet left ventricle NANDO:2100077 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Double-outlet left ventricle +MONDO:0018090 double outlet left ventricle NANDO:2200257 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Double-outlet left ventricle +MONDO:0018097 West syndrome NANDO:1200592 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO West syndrome +MONDO:0018097 West syndrome NANDO:2200878 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO West syndrome +MONDO:0018105 Wolfram syndrome NANDO:1200757 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Wolfram syndrome +MONDO:0018112 isolated scaphocephaly NANDO:2201302 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Non-syndromic sagittal craniosynostosis +MONDO:0018149 GM1 gangliosidosis NANDO:1200066 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO GM1 gangliosidosis +MONDO:0018149 GM1 gangliosidosis NANDO:2200558 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO GM1 Gangliosidosis +MONDO:0018150 Gaucher disease NANDO:1200056 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Gaucher disease +MONDO:0018150 Gaucher disease NANDO:2200562 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Gaucher disease +MONDO:0018153 Erdheim-Chester disease NANDO:2200038 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Erdheim-Chester disease +MONDO:0018155 lateral sclerosis NANDO:1200008 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Primary lateral sclerosis +MONDO:0018158 mitochondrial DNA depletion syndrome NANDO:2200523 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mitochondrial DNA depletion syndrome +MONDO:0018158 mitochondrial DNA depletion syndrome NANDO:2200528 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Diseases due to mitochondrial DNA deletion +MONDO:0018170 idiopathic nephrotic syndrome NANDO:1200719 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Primary nephrotic syndrome +MONDO:0018175 combined deficiency of factor V and factor VIII NANDO:2200686 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Combined deficiency of coagulation factors V and VIII +MONDO:0018177 glioblastoma NANDO:2200087 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glioblastoma +MONDO:0018178 intestinal lymphangiectasia NANDO:2100256 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Intestinal lymphangiectasia +MONDO:0018178 intestinal lymphangiectasia NANDO:2200914 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Intestinal lymphangiectasia +MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion NANDO:1200552 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acute encephalopathy with biphasic seizures and late reduced diffusion +MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion NANDO:2100247 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acute encephalopathy with biphasic seizures and late reduced diffusion +MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion NANDO:2200901 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acute encephalopathy with biphasic seizures and late reduced diffusion +MONDO:0018209 Alexander disease type I NANDO:1200555 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Alexander disease type I +MONDO:0018210 Alexander disease type II NANDO:1200556 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Alexander disease type II +MONDO:0018229 Stevens-Johnson syndrome NANDO:1200245 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Stevens-Johnson syndrome +MONDO:0018229 Stevens-Johnson syndrome NANDO:2100290 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Stevens-Johnson syndrome +MONDO:0018229 Stevens-Johnson syndrome NANDO:2201006 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Stevens-Johnson syndrome +MONDO:0018240 TRPV4-related bone disorder NANDO:2201021 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Transient receptor potential cation channel, vanilloid subfamily, member 4 -associated disorders +MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency NANDO:1201020 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hepatic glycogen storage disease type IX +MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency NANDO:2200544 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glycogen storage disease type IX +MONDO:0018271 peripheral primitive neuroectodermal tumor NANDO:2200054 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Primitive neuroectodermal tumors +MONDO:0018271 peripheral primitive neuroectodermal tumor NANDO:2200055 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Peripheral primitive neuroectodermal tumors +MONDO:0018301 interstitial cystitis NANDO:1200743 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Interstitial cystitis (Hunner type) +MONDO:0018305 chronic granulomatous disease NANDO:1200357 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic granulomatous disease +MONDO:0018305 chronic granulomatous disease NANDO:2200757 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic granulomatous disease +MONDO:0018306 Griscelli syndrome NANDO:1200640 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Griscelli syndrome +MONDO:0018307 neurodegeneration with brain iron accumulation NANDO:2100241 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neurodegeneration with brain iron accumulation +MONDO:0018309 Hirschsprung disease NANDO:1200903 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hirschsprung disease +MONDO:0018309 Hirschsprung disease NANDO:2200945 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hirschsprung disease +MONDO:0018309 Hirschsprung disease NANDO:2200948 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital Isolated Hypoganglionosis +MONDO:0018310 Langerhans cell histiocytosis NANDO:2200031 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Langerhans cell histiocytosis +MONDO:0018328 homozygous familial hypercholesterolemia NANDO:1200394 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Homozygous familial hypercholesterolemia +MONDO:0018328 homozygous familial hypercholesterolemia NANDO:2201255 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Homozygous familial hypercholesterolemia +MONDO:0018348 obsolete polyglucosan body myopathy type 1 NANDO:2200456 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO RBCK1 deficiency +MONDO:0018438 eosinophilic gastrointestinal disease NANDO:1200454 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Eosinophilic gastrointestinal disorders +MONDO:0018438 eosinophilic gastrointestinal disease NANDO:2200807 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Eosinophilic gastrointestinal disorders +MONDO:0018467 nephropathic infantile cystinosis NANDO:1200162 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Nephropathic cystinosis +MONDO:0018467 nephropathic infantile cystinosis NANDO:2201234 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Nephropathic cystinosis +MONDO:0018470 renal agenesis NANDO:2200156 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Renal aplasia +MONDO:0018479 congenital adrenal hyperplasia NANDO:1200396 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital adrenal enzyme deficiency +MONDO:0018479 congenital adrenal hyperplasia NANDO:1200397 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital lipoid adrenal hyperplasia +MONDO:0018479 congenital adrenal hyperplasia NANDO:2100134 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital adrenal hyperplasia +MONDO:0018479 congenital adrenal hyperplasia NANDO:2200370 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital lipoid adrenal hyperplasia +MONDO:0018483 secondary pulmonary alveolar proteinosis NANDO:1200749 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Secondary Pulmonary Alveolar Proteinosis +MONDO:0018542 severe congenital neutropenia NANDO:1200353 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Severe congenital neutropenia +MONDO:0018542 severe congenital neutropenia NANDO:2200745 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Severe congenital neutropenia +MONDO:0018544 adrenoleukodystrophy NANDO:1200165 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Adrenoleukodystrophy +MONDO:0018544 adrenoleukodystrophy NANDO:2200576 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Adrenoleukodystrophy +MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis NANDO:1200426 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pulmonary veno-occlusive disease / pulmonary capillary hemangiomatosis +MONDO:0018554 pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis NANDO:1200428 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pulmonary capillary hemangiomatosis +MONDO:0018555 hypogonadotropic hypogonadism NANDO:1200388 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypogonadotropic hypogonadism +MONDO:0018555 hypogonadotropic hypogonadism NANDO:2100138 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypogonadotropic hypogonadism +MONDO:0018555 hypogonadotropic hypogonadism NANDO:2200382 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypogonadotropic hypogonadism +MONDO:0018570 hypophosphatasia NANDO:1200656 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypophosphatasia +MONDO:0018570 hypophosphatasia NANDO:2201012 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypophosphatasia +MONDO:0018598 obsolete neonatal adrenoleukodystrophy NANDO:1200761 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neonatal adrenoleukodystrophy +MONDO:0018612 congenital hypothyroidism NANDO:2200333 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital hypothyroidism +MONDO:0018620 hypothalamic adipsic hypernatraemia syndrome NANDO:2200325 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Adipsic hypernatremia +MONDO:0018638 pseudohypoaldosteronism NANDO:2100133 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pseudohypoaldosteronism +MONDO:0018638 pseudohypoaldosteronism NANDO:2200367 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pseudohypoaldosteronism +MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria NANDO:1200300 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aplastic anemia-paroxysmal nocturnal hemoglobinuria syndrome +MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria NANDO:1200311 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Paroxysmal nocturnal hemoglobinuria +MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria NANDO:2100182 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Paroxysmal nocturnal haemoglobinuria +MONDO:0018641 obsolete paroxysmal nocturnal hemoglobinuria NANDO:2200621 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Paroxysmal nocturnal hemoglobinuria +MONDO:0018645 IgG4-related sclerosing cholangitis NANDO:1200928 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO IgG4-related sclerosing cholangitis +MONDO:0018646 sclerosing cholangitis NANDO:1200440 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Primary sclerosing cholangitis +MONDO:0018646 sclerosing cholangitis NANDO:2100265 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Primary sclerosing cholangitis +MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome NANDO:1200583 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum +MONDO:0018655 hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome NANDO:2201295 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum +MONDO:0018666 hepatoblastoma NANDO:2200046 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hepatoblastoma +MONDO:0018671 IgG4-related kidney disease NANDO:1200930 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO IgG4-related kidney disease +MONDO:0018686 acquired Creutzfeldt-Jakob disease NANDO:1200192 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Environmentally acquired Creutzfeldt-Jakob disease +MONDO:0018737 catastrophic antiphospholipid syndrome NANDO:1200270 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Catastrophic antiphospholipid syndrome +MONDO:0018746 mucous membrane pemphigoid NANDO:1200634 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mucous membrane pemphigoid +MONDO:0018747 acquired epidermolysis bullosa NANDO:1200635 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Epidermolysis bullosa acquisita +MONDO:0018762 non-acquired combined pituitary hormone deficiency NANDO:2200312 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital hypopituitarism +MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene NANDO:2100261 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic nonspecific multiple ulcers of the small intestine +MONDO:0018766 chronic enteropathy associated with SLCO2A1 gene NANDO:2200925 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic nonspecific multiple ulcers of the small intestine +MONDO:0018768 familial cold autoinflammatory syndrome NANDO:1200466 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Familial cold autoinflammatorysyndrome +MONDO:0018768 familial cold autoinflammatory syndrome NANDO:2200449 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO NLRP12-associated periodic syndrome +MONDO:0018768 familial cold autoinflammatory syndrome NANDO:2200454 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO NLRP12-associated periodic syndrome +MONDO:0018768 familial cold autoinflammatory syndrome NANDO:2201068 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO familial cold autoinflammatory syndrome +MONDO:0018778 intermediate Charcot-Marie-Tooth disease NANDO:1200019 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Intermediate Charcot-Marie-Tooth disease +MONDO:0018781 KID syndrome NANDO:1200621 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Keratitis-ichthyosis-deafness syndrome +MONDO:0018781 KID syndrome NANDO:2200996 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Keratitis-ichthyosis-deafness syndrome +MONDO:0018800 Kallmann syndrome NANDO:2200381 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Kallmann syndrome +MONDO:0018808 Caroli syndrome NANDO:2200934 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Caroli disease +MONDO:0018824 pyoderma gangrenosum NANDO:2200437 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pyogenic arthritis, pyoderma gangrenosum, acne syndrome +MONDO:0018838 lissencephaly spectrum disorders NANDO:1200574 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neuronal migration defects +MONDO:0018838 lissencephaly spectrum disorders NANDO:2200817 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lissencephaly +MONDO:0018840 isolated congenital hepatic fibrosis NANDO:2100267 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital hepatic fibrosis +MONDO:0018840 isolated congenital hepatic fibrosis NANDO:2200936 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital hepatic fibrosis +MONDO:0018866 Aicardi-Goutieres syndrome NANDO:1200996 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aicardi-Goutières Syndrome +MONDO:0018866 Aicardi-Goutieres syndrome NANDO:2100244 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aicardi-Goutières Syndrome +MONDO:0018866 Aicardi-Goutieres syndrome NANDO:2200893 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aicardi-Goutières Syndrome +MONDO:0018868 metachromatic leukodystrophy NANDO:1200078 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Metachromatic leukodystrophy +MONDO:0018868 metachromatic leukodystrophy NANDO:2200560 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Metachromatic leukodystrophy +MONDO:0018869 cobblestone lissencephaly NANDO:1201072 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cobblestone brain malformation +MONDO:0018872 acute megakaryoblastic leukemia NANDO:2200011 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acute megakaryoblastic leukemia +MONDO:0018878 branchiootic syndrome NANDO:1200675 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Branchio-oto-renal syndrome +MONDO:0018881 myelodysplastic syndrome NANDO:2100003 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myelodysplastic syndrome +MONDO:0018881 myelodysplastic syndrome NANDO:2200019 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myelodysplastic syndrome +MONDO:0018883 Berardinelli-Seip congenital lipodystrophy NANDO:1200859 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Generalized congenital lipodystrophy +MONDO:0018883 Berardinelli-Seip congenital lipodystrophy NANDO:2200465 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lipoatrophic diabetes +MONDO:0018896 thrombotic thrombocytopenic purpura NANDO:1200316 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Thrombotic thrombocytopenic purpura +MONDO:0018896 thrombotic thrombocytopenic purpura NANDO:2100189 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Thrombotic thrombocytopenic purpura +MONDO:0018896 thrombotic thrombocytopenic purpura NANDO:2200649 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Thrombotic thrombocytopenic purpura +MONDO:0018901 left ventricular noncompaction NANDO:2200231 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Non-compaction of the ventricle +MONDO:0018904 primary membranoproliferative glomerulonephritis NANDO:1200725 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Primary membranoproliferative glomerulonephritis +MONDO:0018904 primary membranoproliferative glomerulonephritis NANDO:2200123 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Membranoproliferative glomerulonephritis +MONDO:0018907 craniopharyngioma NANDO:2200091 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Craniopharyngioma +MONDO:0018910 oculocutaneous albinism NANDO:1200637 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Oculocutaneous albinism +MONDO:0018910 oculocutaneous albinism NANDO:1200641 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Non-syndromic oculocutaneous albinism +MONDO:0018910 oculocutaneous albinism NANDO:2200986 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Oculocutaneous albinism +MONDO:0018911 maturity-onset diabetes of the young NANDO:2200462 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Maturity-onset diabetes of the young +MONDO:0018919 McCune-Albright syndrome NANDO:2200412 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO McCune-Albright syndrome +MONDO:0018922 cold agglutinin disease NANDO:1200307 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cold agglutinin disease +MONDO:0018922 cold agglutinin disease NANDO:2200618 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cold agglutinin disease +MONDO:0018923 22q11.2 deletion syndrome NANDO:1200339 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Thymus hypoplasia +MONDO:0018923 22q11.2 deletion syndrome NANDO:1200688 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 22q11.2 deletion syndrome +MONDO:0018923 22q11.2 deletion syndrome NANDO:2200712 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Thymus hypoplasia +MONDO:0018931 mucolipidosis type III, alpha/beta NANDO:1200125 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mucolipidosis III +MONDO:0018931 mucolipidosis type III, alpha/beta NANDO:2200568 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mucolipidosis III +MONDO:0018937 mucopolysaccharidosis type 3 NANDO:1200100 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sanfilippo disease +MONDO:0018937 mucopolysaccharidosis type 3 NANDO:2200549 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mucopolysaccharidosis type III +MONDO:0018938 mucopolysaccharidosis type 4 NANDO:1200105 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Morquio syndrome +MONDO:0018938 mucopolysaccharidosis type 4 NANDO:2200550 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mucopolysaccharidosis type IV +MONDO:0018940 congenital myasthenic syndrome NANDO:1200021 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital myasthenic syndrome +MONDO:0018945 McLeod neuroacanthocytosis syndrome NANDO:1200015 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO McLeod syndrome +MONDO:0018947 centronuclear myopathy NANDO:1200481 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myotubular myopathy +MONDO:0018947 centronuclear myopathy NANDO:1200482 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Centronuclear myopathy +MONDO:0018947 centronuclear myopathy NANDO:2200867 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myotubular myopathy +MONDO:0018948 multiminicore myopathy NANDO:1200480 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Minicore myopathy +MONDO:0018948 multiminicore myopathy NANDO:2200871 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Multicore disease +MONDO:0018949 distal myopathy NANDO:1200216 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Distal myopathy +MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency NANDO:2200495 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO 3-methylcrotonyl-CoA carboxylase deficiency +MONDO:0018954 Loeys-Dietz syndrome NANDO:2200969 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Loeys-Dietz syndrome +MONDO:0018958 nemaline myopathy NANDO:1200478 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Nemaline myopathy +MONDO:0018958 nemaline myopathy NANDO:2200869 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Nemaline myopathy +MONDO:0018959 potassium-aggravated myotonia NANDO:1200500 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sodium channel myotonia +MONDO:0018960 congenital primary megaureter NANDO:2200184 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Megaureter +MONDO:0018965 Alport syndrome NANDO:1200712 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Alport's syndrome +MONDO:0018965 Alport syndrome NANDO:2200126 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Alport syndrome +MONDO:0018974 paraneoplastic pemphigus NANDO:1200231 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Paraneoplastic pemphigus +MONDO:0018975 neurofibromatosis type 1 NANDO:1200225 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neurofibromatosis +MONDO:0018975 neurofibromatosis type 1 NANDO:1200226 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neurofibromatosis type 1 +MONDO:0018975 neurofibromatosis type 1 NANDO:2100287 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO von Recklinghausen's disease +MONDO:0018975 neurofibromatosis type 1 NANDO:2201003 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO von Recklinghausen's disease +MONDO:0018979 multifocal motor neuropathy NANDO:1200031 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Multifocal motor neuropathy +MONDO:0018982 Niemann-Pick disease type C NANDO:1200063 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Niemann-Pick disease type C +MONDO:0018993 Charcot-Marie-Tooth disease type 2 NANDO:1200018 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Charcot-Marie-Tooth disease type 2 +MONDO:0018997 Noonan syndrome NANDO:1200680 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Noonan syndrome +MONDO:0018997 Noonan syndrome NANDO:2200413 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Noonan syndrome +MONDO:0018999 LCAT deficiency NANDO:1200852 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lecithin cholesterol acyltransferase deficiency +MONDO:0019003 multiple endocrine neoplasia type 2 NANDO:2200406 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Multiple endocrine neoplasia type 2 +MONDO:0019004 kidney Wilms tumor NANDO:2200043 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Wilms tumour +MONDO:0019005 nephronophthisis NANDO:1201036 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Nephronophthisis +MONDO:0019005 nephronophthisis NANDO:2100015 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Nephronophthisis +MONDO:0019005 nephronophthisis NANDO:2200140 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Nephronophthisis +MONDO:0019005 nephronophthisis NANDO:2200170 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Medullary cystic kidney +MONDO:0019009 isolated focal cortical dysplasia NANDO:1200564 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Focal cortical dysplasia +MONDO:0019011 Charcot-Marie-Tooth disease type 1 NANDO:1200017 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Charcot-Marie-Tooth disease type 1 +MONDO:0019012 Carpenter syndrome NANDO:2200847 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Carpenter syndrome +MONDO:0019019 osteogenesis imperfecta NANDO:1200873 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Osteogenesis imperfecta +MONDO:0019019 osteogenesis imperfecta NANDO:2201011 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Osteogenesis imperfecta +MONDO:0019029 segmental odontomaxillary dysplasia NANDO:1200561 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Septo-optic dysplasia +MONDO:0019035 pancreatoblastoma NANDO:2200082 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pancreatoblastoma +MONDO:0019037 progressive supranuclear palsy NANDO:1200009 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Progressive supranuclear palsy +MONDO:0019040 chromosomal disorder NANDO:1100014 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chromosome abnormality +MONDO:0019040 chromosomal disorder NANDO:2100279 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chromosome abnormality +MONDO:0019040 chromosomal disorder NANDO:2100280 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chromosome abnormality +MONDO:0019046 leukodystrophy NANDO:1200575 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital hypomyelinating leukodystrophy +MONDO:0019046 leukodystrophy NANDO:2200836 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital hypomyelinating leukodystrophy +MONDO:0019052 inborn errors of metabolism NANDO:2100159 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Inborn errors of metabolism +MONDO:0019053 peroxisomal disease NANDO:1200758 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Peroxisomal disorder +MONDO:0019053 peroxisomal disease NANDO:2100166 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Peroxisomal disorder +MONDO:0019056 neuromuscular disease NANDO:1100001 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neuromuscular disease +MONDO:0019056 neuromuscular disease NANDO:2100214 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neuromuscular disease +MONDO:0019064 hereditary spastic paraplegia NANDO:1200052 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary spastic paraplegia +MONDO:0019065 amyloidosis NANDO:2200138 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Amyloid nephropathy +MONDO:0019079 proximal spinal muscular atrophy NANDO:2100231 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Spinal muscular atrophy +MONDO:0019082 bullous pemphigoid NANDO:1200632 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pemphigoid (including Epidermolysis bullosa acquisita) +MONDO:0019082 bullous pemphigoid NANDO:1200633 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Bullous pemphigoid +MONDO:0019100 neuromyelitis optica NANDO:1200027 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neuromyelitis optica spectrum disorders +MONDO:0019100 neuromyelitis optica NANDO:2201322 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neuromyelitis optica +MONDO:0019123 continuous spikes and waves during sleep NANDO:1200601 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Epileptic encephalopathy with continuous spike-and-wave during sleep +MONDO:0019124 microscopic polyangiitis NANDO:1200262 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Microscopic polyangiitis +MONDO:0019124 microscopic polyangiitis NANDO:2200426 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Microscopic polyangiitis +MONDO:0019125 relapsing polychondritis NANDO:1200283 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Relapsing polychondritis +MONDO:0019125 relapsing polychondritis NANDO:2100154 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Relapsing Polychondritis +MONDO:0019125 relapsing polychondritis NANDO:2200428 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Relapsing polychondritis +MONDO:0019127 polymyositis NANDO:1200276 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Polymyositis +MONDO:0019139 acquired hemophilia NANDO:1200898 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acquired hemophilia A +MONDO:0019142 inherited porphyria NANDO:2200610 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital porphyria +MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency NANDO:1201080 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Protein C deficiency +MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency NANDO:2100197 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Protein C deficiency +MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency NANDO:2200689 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Protein C deficiency +MONDO:0019146 inherited susceptibility to mycobacterial diseases NANDO:1200359 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mendelian susceptibility to mycobacterial disease +MONDO:0019146 inherited susceptibility to mycobacterial diseases NANDO:2200759 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mendelian susceptibility to mycobacterial disease +MONDO:0019148 Wolman disease NANDO:1200142 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acid lipase deficiency +MONDO:0019148 Wolman disease NANDO:1200143 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Wolman disease +MONDO:0019148 Wolman disease NANDO:2200570 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acid lipase deficiency +MONDO:0019148 Wolman disease NANDO:2201232 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Wolman disease +MONDO:0019149 cholesteryl ester storage disease NANDO:1200144 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cholesterol ester storage disease +MONDO:0019149 cholesteryl ester storage disease NANDO:2201233 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cholesterol ester storage disease +MONDO:0019154 androgen insensitivity syndrome NANDO:2200391 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Androgen insensitivity syndrome +MONDO:0019161 pseudohypoaldosteronism type 1 NANDO:2200368 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pseudohypoaldosteronism type I +MONDO:0019162 pseudohypoaldosteronism type 2 NANDO:2200369 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pseudohypoaldosteronism type II +MONDO:0019165 central precocious puberty NANDO:1200381 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Central precocious puberty +MONDO:0019165 central precocious puberty NANDO:2200377 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Gonadotropin-dependent precocious puberty +MONDO:0019169 pyruvate dehydrogenase deficiency NANDO:2200518 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pyruvate dehydrogenase complex deficiency +MONDO:0019170 polyarteritis nodosa NANDO:1200261 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Polyarteritis nodosa +MONDO:0019170 polyarteritis nodosa NANDO:2200425 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Polyangiitis nodosa +MONDO:0019171 familial long QT syndrome NANDO:2200228 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Long qt syndrome +MONDO:0019172 aniridia NANDO:1201001 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aniridia +MONDO:0019174 obsolete infantile Refsum disease NANDO:1200762 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Infantile Refsum disease +MONDO:0019175 primary lymphedema NANDO:2201031 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Primary lymphedema +MONDO:0019180 hereditary hemorrhagic telangiectasia NANDO:1200744 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Osler disease +MONDO:0019180 hereditary hemorrhagic telangiectasia NANDO:2100296 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary hemorrhagic telangiectasia +MONDO:0019180 hereditary hemorrhagic telangiectasia NANDO:2201034 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary hemorrhagic telangiectasia +MONDO:0019188 Rubinstein-Taybi syndrome NANDO:1200461 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Rubinstein-Taybi syndrome +MONDO:0019188 Rubinstein-Taybi syndrome NANDO:2200955 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Rubinstein-Taybi syndrome +MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis NANDO:1200929 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO IgG4-related dacryoadenitis and sialadenitis +MONDO:0019193 acquired generalized lipodystrophy NANDO:1200860 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acquired generalized lipodystrophy +MONDO:0019200 retinitis pigmentosa NANDO:1200431 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Retinitis pigmentosa +MONDO:0019203 acute interstitial pneumonia NANDO:1200420 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acute interstitial pneumonia +MONDO:0019208 Bickerstaff brainstem encephalitis NANDO:1200551 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Bickerstaff's brainstem encephalitis +MONDO:0019214 inborn carbohydrate metabolic disorder NANDO:2100164 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Disorder of carbohydrate metabolism +MONDO:0019218 inborn disorder of bile acid synthesis NANDO:2200506 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Inborn errors of bile acid metabolism +MONDO:0019233 disorder of peroxisomal beta oxidation NANDO:1200764 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Peroxisomal beta-oxidation enzyme deficiency +MONDO:0019234 peroxisome biogenesis disorder NANDO:1200759 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Peroxisome biogenesis disorders +MONDO:0019234 peroxisome biogenesis disorder NANDO:2200575 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Peroxisome biogenesis disorders +MONDO:0019260 adult neuronal ceroid lipofuscinosis NANDO:1200155 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Adult neuronal ceroid lipofuscinosis +MONDO:0019260 adult neuronal ceroid lipofuscinosis NANDO:2201244 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Adult neuronal ceroid lipofuscinosis +MONDO:0019261 infantile neuronal ceroid lipofuscinosis NANDO:1200152 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Infantile neuronal ceroid lipofuscinosis +MONDO:0019261 infantile neuronal ceroid lipofuscinosis NANDO:2201241 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Infantile neuronal ceroid lipofuscinosis +MONDO:0019262 juvenile neuronal ceroid lipofuscinosis NANDO:1200154 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Juvenile neuronal ceroid lipofuscinosis +MONDO:0019262 juvenile neuronal ceroid lipofuscinosis NANDO:2201243 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Juvenile neuronal ceroid lipofuscinosis +MONDO:0019263 autosomal erythropoietic protoporphyria NANDO:1200815 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Erythropoietic protoporphyria +MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 NANDO:1200137 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Schindler disease type 3 +MONDO:0019269 ichthyosis NANDO:1200618 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ichthyosis syndrome +MONDO:0019306 congenital non-bullous ichthyosiform erythroderma NANDO:1200616 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital ichthyosiform erythroderma +MONDO:0019306 congenital non-bullous ichthyosiform erythroderma NANDO:1200617 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Lamellar ichthyosis +MONDO:0019312 Hermansky-Pudlak syndrome NANDO:1200638 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hermansky-Pudlak syndrome +MONDO:0019322 pemphigus vegetans NANDO:1200232 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pemphigus vegetans +MONDO:0019323 pemphigus erythematosus NANDO:1200233 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pemphigus erythematosus +MONDO:0019324 pemphigus foliaceus NANDO:1200230 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pemphigus foliaceus +MONDO:0019328 macrocystic lymphatic malformation NANDO:1200881 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Giant lymphatic malformation (cervicofacial lesion) +MONDO:0019338 sarcoidosis NANDO:1200415 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sarcoidosis +MONDO:0019341 obsolete tuberous sclerosis complex NANDO:1200607 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tuberous sclerosis complex +MONDO:0019341 obsolete tuberous sclerosis complex NANDO:2200826 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tuberous sclerosis complex +MONDO:0019346 sialidosis type 1 NANDO:1200117 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sialidosis type 1 +MONDO:0019346 sialidosis type 1 NANDO:2201191 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sialidosis type 1 +MONDO:0019349 Sotos syndrome NANDO:1200679 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sotos syndrome +MONDO:0019349 Sotos syndrome NANDO:2200953 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sotos syndrome +MONDO:0019350 hereditary spherocytosis NANDO:2200622 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary spherocytosis +MONDO:0019353 Stargardt disease NANDO:1200933 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Stargardt disease +MONDO:0019355 adult-onset Still disease NANDO:1200282 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Adult Still's disease +MONDO:0019366 free sialic acid storage disease NANDO:1200146 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Free sialic acid storage disease +MONDO:0019366 free sialic acid storage disease NANDO:2200572 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Free Sialic Acid Storage Disease +MONDO:0019373 desmoplastic small round cell tumor NANDO:2200059 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Desmoplastic small round cell tumors +MONDO:0019391 Fanconi anemia NANDO:1200303 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fanconi anemia +MONDO:0019391 Fanconi anemia NANDO:1200891 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fanconi anemia +MONDO:0019391 Fanconi anemia NANDO:2200652 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Fanconi anemia +MONDO:0019399 Isaac syndrome NANDO:1200510 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Isaacs syndrome +MONDO:0019402 beta thalassemia NANDO:2201274 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO β-thalassemia +MONDO:0019403 congenital dyserythropoietic anemia NANDO:1200885 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital dyserythropoietic anemia +MONDO:0019403 congenital dyserythropoietic anemia NANDO:2100178 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital dyserythropoietic anemia +MONDO:0019403 congenital dyserythropoietic anemia NANDO:2200615 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital dyserythropoietic anemia +MONDO:0019408 Astley-Kendall dysplasia NANDO:2201362 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Astley-Kendall dysplasia +MONDO:0019415 fetal and neonatal alloimmune thrombocytopenia NANDO:2200647 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neonatal alloimmune thrombocytopenia +MONDO:0019433 oligoarticular juvenile idiopathic arthritis NANDO:1200471 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Articular-type juvenile idiopathic arthritis +MONDO:0019433 oligoarticular juvenile idiopathic arthritis NANDO:2201056 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Oligoarticular juvenile idiopathic arthritis +MONDO:0019434 systemic-onset juvenile idiopathic arthritis NANDO:1200470 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Systemic juvenile idiopathic arthritis +MONDO:0019434 systemic-onset juvenile idiopathic arthritis NANDO:2201055 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Systemic juvenile idiopathic arthritis +MONDO:0019435 rheumatoid factor-positive polyarticular juvenile idiopathic arthritis NANDO:2201058 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Rheumatoid factor-positive juvenile idiopathic arthritis +MONDO:0019437 enthesitis-related juvenile idiopathic arthritis NANDO:2201060 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Enthesitis-related juvenile idiopathic arthritis +MONDO:0019438 AL amyloidosis NANDO:1200211 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Amyloid light-chain amyloidosis +MONDO:0019443 dextro-looped transposition of the great arteries NANDO:1200698 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Corrected transposition of great arteries +MONDO:0019448 benign adult familial myoclonic epilepsy NANDO:1200956 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Benign adult familial myoclonus epilepsy +MONDO:0019460 acute leukemia of ambiguous lineage NANDO:2200017 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acute undifferentiated leukemia +MONDO:0019460 acute leukemia of ambiguous lineage NANDO:2200018 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mixed phenotype acute leukemia +MONDO:0019470 aggressive NK-cell leukemia NANDO:2200012 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO NK cell leukemia +MONDO:0019472 extranodal nasal NK/T cell lymphoma NANDO:2200027 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Extranodal NK/T-cell lymphoma, nasal type +MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma NANDO:2200030 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sucutaneous panniculitis-like T-cell lymphoma +MONDO:0019480 Langerhans cell sarcoma NANDO:2200036 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Langerhans cell sarcoma +MONDO:0019485 idiopathic hemiconvulsion-hemiplegia syndrome NANDO:1200596 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hemiconvulsion-hemiplegia-epilepsy syndrome +MONDO:0019487 epilepsy with myoclonic absences NANDO:1200589 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myoclonic absence epilepsy +MONDO:0019499 Turner syndrome NANDO:2200410 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Turner syndrome +MONDO:0019501 Usher syndrome NANDO:1200941 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Usher syndrome +MONDO:0019503 anterior segment dysgenesis NANDO:1201000 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Anterior segment dysgenesis +MONDO:0019532 autoimmune hemolytic anemia, warm type NANDO:1200306 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Warm antibody hemolytic anemia +MONDO:0019533 paroxysmal cold hemoglobinuria NANDO:1200308 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Paroxysmal cold hemoglobinuria +MONDO:0019533 paroxysmal cold hemoglobinuria NANDO:2200619 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Paroxysmal cold hemoglobinuria +MONDO:0019534 mixed-type autoimmune hemolytic anemia NANDO:1200309 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mixed-type autoimmune hemolytic anemia +MONDO:0019536 Shiga toxin-associated hemolytic uremic syndrome NANDO:2200640 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Shiga toxin-producing escherichia coli hemolytic uremic syndrome +MONDO:0019563 CREST syndrome NANDO:1201011 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Limited cutaneous systemic sclerosis +MONDO:0019600 xeroderma pigmentosum NANDO:1200608 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Xeroderma pigmentosum +MONDO:0019600 xeroderma pigmentosum NANDO:2100286 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Xeroderma pigmentosum +MONDO:0019600 xeroderma pigmentosum NANDO:2201002 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Xeroderma pigmentosum +MONDO:0019607 unspecified juvenile idiopathic arthritis NANDO:2201061 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Unclassifiable Juvenile idiopathic arthritis +MONDO:0019609 Zellweger spectrum disorders NANDO:1200760 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Zellweger syndrome +MONDO:0019611 TSH-secreting pituitary adenoma NANDO:1200377 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Diencephalo-hypophysial insufficiency-inappropriate thyroid stimulating hormone syndrome +MONDO:0019622 non-specific interstitial pneumonia NANDO:1200419 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Non-specific interstitial pneumonia +MONDO:0019623 hereditary angioedema NANDO:1200365 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary angioedema +MONDO:0019623 hereditary angioedema NANDO:2200795 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary angioedema +MONDO:0019637 renal hypoplasia NANDO:2200155 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypoplastic kidney +MONDO:0019638 renal dysplasia NANDO:2200161 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Renal dysplasia +MONDO:0019639 congenital megacalycosis NANDO:2200177 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Megacalycosis +MONDO:0019642 vitamin D-dependent rickets, type 2 NANDO:1200783 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Vitamin D-dependent rickets, type 2 +MONDO:0019654 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis NANDO:2200111 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Diffuse mesangial sclerosis +MONDO:0019669 hypochondrogenesis NANDO:2201346 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hypochondrogenesis +MONDO:0019701 chondrodysplasia punctata NANDO:2201017 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chondrodysplasia punctata +MONDO:0019731 AApoAI amyloidosis NANDO:1201062 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Familial amyloid polyneuropathy type 3 +MONDO:0019734 juvenile polymyositis NANDO:2200419 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Juvenile polymyositis +MONDO:0019736 dense deposit disease NANDO:1200739 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Primary membranoproliferative glomerulonephritis type II +MONDO:0019740 acquired thrombotic thrombocytopenic purpura NANDO:1200318 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acquired idiopathic thrombotic thrombocytopenic purpura +MONDO:0019740 acquired thrombotic thrombocytopenic purpura NANDO:1200319 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Secondary thrombotic thrombocytopenic purpura +MONDO:0019751 autoinflammatory syndrome NANDO:2100156 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autoinflammatory disease +MONDO:0019773 myelomeningocele NANDO:1200509 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myelomeningocele +MONDO:0019773 myelomeningocele NANDO:2100215 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myelomeningocele +MONDO:0019773 myelomeningocele NANDO:2200814 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myelomeningocele +MONDO:0019787 autoimmune enteropathy NANDO:2200923 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autoimmune enteropathy +MONDO:0019799 hepatoerythropoietic porphyria NANDO:1200819 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hepatoerythropoietic porphyria +MONDO:0019799 hepatoerythropoietic porphyria NANDO:2201270 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hepatoerythropoietic porphyria +MONDO:0019804 tracheomalacia NANDO:2200195 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tracheomalacia +MONDO:0019810 toxic epidermal necrolysis NANDO:1200246 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Toxic epidermal necrolysis +MONDO:0019810 toxic epidermal necrolysis NANDO:2201007 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Toxic epidermal necrolysis +MONDO:0019813 congenital tricuspid stenosis NANDO:1200962 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital tricuspid stenosis +MONDO:0019832 acquired pituitary hormone deficiency NANDO:2200313 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acquired hypopituitarism +MONDO:0019854 thyroid ectopia NANDO:2200330 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ectoic thyroid +MONDO:0019855 athyreosis NANDO:2200331 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Thyroid agenesis +MONDO:0019933 acromegaly NANDO:2100112 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acromegaly +MONDO:0019933 acromegaly NANDO:2200315 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acromegaly +MONDO:0019948 reducing body myopathy NANDO:2200875 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Reducing body myopathy +MONDO:0019952 congenital myopathy NANDO:1200477 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital myopathy +MONDO:0019952 congenital myopathy NANDO:2100234 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital myopathy +MONDO:0019959 glucagonoma NANDO:2100142 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glucagonoma +MONDO:0019959 glucagonoma NANDO:2200397 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glucagonoma +MONDO:0019960 VIPoma NANDO:2200394 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Vipoma +MONDO:0019983 multiloculated renal cyst NANDO:2200171 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Multilocular cysts of the kidney +MONDO:0019992 pseudohypoparathyroidism NANDO:1200776 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pseudohypoparathyroidism +MONDO:0019992 pseudohypoparathyroidism NANDO:2100126 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pseudohypoparathyroidism +MONDO:0019992 pseudohypoparathyroidism NANDO:2200349 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pseudohypoparathyroidism +MONDO:0020007 absence of the pulmonary artery NANDO:2200282 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Unilateral absence of a pulmonary artery +MONDO:0020022 central nervous system malformation NANDO:2200118 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Central nervous system malformation syndrome +MONDO:0020040 46,XY disorder of sex development NANDO:2200393 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Disorders of sex development of 46,XX +MONDO:0020042 obsolete syndrome with 46,XY disorder of sex development NANDO:2200393 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Disorders of sex development of 46,XX +MONDO:0020064 pulmonary valve agenesis NANDO:2100095 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Absent pulmonary valve +MONDO:0020064 pulmonary valve agenesis NANDO:2200280 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Absent pulmonary valve +MONDO:0020066 Ehlers-Danlos syndrome NANDO:1200645 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ehlers-Danlos Syndrome +MONDO:0020066 Ehlers-Danlos syndrome NANDO:2200607 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ehlers-Danlos syndrome +MONDO:0020074 progressive myoclonus epilepsy NANDO:1200953 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Progressive myoclonus epilepsy +MONDO:0020074 progressive myoclonus epilepsy NANDO:2100237 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Progressive myoclonus epilepsy +MONDO:0020088 familial partial lipodystrophy NANDO:1200861 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Familial partial lipodystrophy +MONDO:0020099 inherited sideroblastic anemia NANDO:1200892 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary sideroblastic anemia +MONDO:0020102 hereditary stomatocytosis NANDO:2200623 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary stomatocytosis +MONDO:0020108 autoimmune hemolytic anemia NANDO:1200305 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autoimmune hemolytic anemia +MONDO:0020108 autoimmune hemolytic anemia NANDO:2100181 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autoimmune hemolytic anemia +MONDO:0020121 muscular dystrophy NANDO:1200486 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Muscular dystrophy +MONDO:0020121 muscular dystrophy NANDO:2100233 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Muscular dystrophy +MONDO:0020242 hereditary macular dystrophy NANDO:1200931 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Macular dystrophy +MONDO:0020311 chronic myelomonocytic leukemia NANDO:2200014 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic myelomonocytic leukemia +MONDO:0020320 acute myeloblastic leukemia with maturation NANDO:2200006 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acute myeloid leukemia with maturation +MONDO:0020321 acute undifferentiated leukemia NANDO:2200017 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acute undifferentiated leukemia +MONDO:0020325 anaplastic large cell lymphoma NANDO:2200021 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Anaplastic large cell lymphoma +MONDO:0020337 congenital dyserythropoietic anemia type 1 NANDO:1200886 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital dyserythropoietic anemia type I +MONDO:0020338 adult pure red cell aplasia NANDO:1200889 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acquired pure red cell aplasia +MONDO:0020338 adult pure red cell aplasia NANDO:2200613 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acquired pure red cell aplasia +MONDO:0020341 periventricular nodular heterotopia NANDO:1201079 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Periventricular nodular heterotopia +MONDO:0020352 multiple system atrophy, parkinsonian type NANDO:1200036 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Multiple system atrophy, Parkinsonian type +MONDO:0020385 congenitally uncorrected transposition of the great arteries with coarctation NANDO:1200703 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Complete transposition of the great arteries (Group4) +MONDO:0020391 pulmonary artery coming from the aorta NANDO:2200281 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Origin of pulmonary artery from ascending aorta +MONDO:0020398 congenital mitral stenosis NANDO:1200963 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital mitral stenosis +MONDO:0020400 congenital supravalvular mitral ring NANDO:2200308 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Supramitral ring +MONDO:0020413 encircling double aortic arch NANDO:2200290 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Double aortic arch disease +MONDO:0020428 congenital Gerbode defect NANDO:2100090 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Left ventricular-right atrial communication +MONDO:0020428 congenital Gerbode defect NANDO:2200274 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Left ventricular-right atrial communication +MONDO:0020434 atrial septal defect, ostium secundum type NANDO:2200266 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Atrial septal defect, ostium secundum type +MONDO:0020436 atrial septal defect, sinus venosus type NANDO:2200267 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Atrial septal defect, sinus venosus type +MONDO:0020439 patent foramen ovale NANDO:2200266 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Atrial septal defect, ostium secundum type +MONDO:0020453 congenital partial pulmonary venous return anomaly NANDO:2200272 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Partial anomalous pulmonary venous connection +MONDO:0020459 unstable hemoglobin disease NANDO:2200625 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Unstable hemoglobin disease +MONDO:0020460 acquired von willebrand syndrome NANDO:1200899 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acquired von Willebrand disease +MONDO:0020476 mesial temporal lobe epilepsy with hippocampal sclerosis NANDO:1200588 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mesial temporal lobe epilepsy with bilateral hippocampal sclerosis +MONDO:0020479 pituitary gigantism NANDO:2100111 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pituitary gigantism +MONDO:0020479 pituitary gigantism NANDO:2200314 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pituitary gigantism +MONDO:0020489 familial hyperreninemic hypoaldosteronism type 1 NANDO:2200365 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aldosterone synthase deficiency +MONDO:0020491 subcortical band heterotopia NANDO:1201070 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Subcortical band heterotopia +MONDO:0020492 hemimegalencephaly NANDO:1200563 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hemimegalencephaly +MONDO:0020511 precursor B-cell acute lymphoblastic leukemia NANDO:2200001 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO B-cell precursor lymphoblastic leukemia +MONDO:0020511 precursor B-cell acute lymphoblastic leukemia NANDO:2200022 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Precursor B lymphoblastic lymphoma +MONDO:0020547 chronic graft versus host disease NANDO:2100213 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic graft-versus-host disease +MONDO:0020547 chronic graft versus host disease NANDO:2200812 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic graft-versus-host disease +MONDO:0020560 atypical teratoid rhabdoid tumor NANDO:2200101 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Atypical teratoid, rhabdoid tumour +MONDO:0020586 factor V deficiency NANDO:2200674 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Factor V deficiency +MONDO:0020587 factor XI deficiency NANDO:2200679 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Factor XI deficiency +MONDO:0020599 acquired coagulation factor deficiency NANDO:1200896 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autoimmune acquired coagulation factor deficiency +MONDO:0020603 X-linked chondrodysplasia punctata 2 NANDO:1200630 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Conradi Hünermann Happle syndrome +MONDO:0020603 X-linked chondrodysplasia punctata 2 NANDO:2201357 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO X-linked dominant chondrodysplasia Punctata, Conradi-Hunermann Type +MONDO:0020640 autoimmune encephalitis NANDO:2100248 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autoimmune encephalitis +MONDO:0020640 autoimmune encephalitis NANDO:2200902 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autoimmune encephalitis +MONDO:0020642 polycystic kidney disease NANDO:1200367 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Polycystic kidney disease +MONDO:0020642 polycystic kidney disease NANDO:2200152 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Polycystic kidney disease +MONDO:0020690 adult glioblastoma NANDO:2200087 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Glioblastoma +MONDO:0020702 autosomal dominant epidermolytic ichthyosis NANDO:1200611 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autosomal dominant epidermolytic ichthyosis +MONDO:0020702 autosomal dominant epidermolytic ichthyosis NANDO:2200988 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autosomal dominant epidermolytic ichthyosis +MONDO:0020743 mixed phenotype acute leukemia NANDO:2200018 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mixed phenotype acute leukemia +MONDO:0020793 oculopharyngodistal myopathy 1 NANDO:1200219 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Oculopharyngodistal myopathy +MONDO:0020803 obsolete bundle branch block NANDO:2100046 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Bundle branch block +MONDO:0020803 obsolete bundle branch block NANDO:2200215 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Bundle branch block +MONDO:0021055 classic familial adenomatous polyposis NANDO:2200915 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Familial adenomatous polyposis +MONDO:0021061 neurofibromatosis NANDO:1200225 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neurofibromatosis +MONDO:0021061 neurofibromatosis NANDO:1200226 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neurofibromatosis type 1 +MONDO:0021061 neurofibromatosis NANDO:1200227 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neurofibromatosis type 2 +MONDO:0021061 neurofibromatosis NANDO:2201003 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO von Recklinghausen's disease +MONDO:0021081 anti-NMDA receptor encephalitis NANDO:2201317 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Anti-NMDA receptor encephalitis +MONDO:0021094 immunodeficiency disease NANDO:2100204 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Immunodeficiency +MONDO:0021133 acquired factor XIII deficiency NANDO:1200897 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autoimmune hemorrhaphilia XIII/13 +MONDO:0021134 acquired factor X deficiency NANDO:1201048 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Acquired factor X inhibitor +MONDO:0021209 heart neoplasm NANDO:2100061 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cardiac tumor +MONDO:0021209 heart neoplasm NANDO:2200236 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Cardiac tumor +MONDO:0021902 aortopulmonary window NANDO:2100082 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aorto-pulmonary window +MONDO:0021902 aortopulmonary window NANDO:2200262 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aorto-pulmonary window +MONDO:0021915 arakawa syndrome 2 NANDO:2201111 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Methylcobalamin deficiency cblG type +MONDO:0021969 Banti syndrome NANDO:1200438 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Idiopathic portal hypertension +MONDO:0022205 pustular psoriasis NANDO:1200240 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pustular psoriasis +MONDO:0022205 pustular psoriasis NANDO:2100285 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pustular psoriasis +MONDO:0022205 pustular psoriasis NANDO:2201001 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pustular psoriasis +MONDO:0022308 corticobasal degeneration disorder NANDO:1200011 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Corticobasal degeneration +MONDO:0022402 agyria-pachygyria type 1 NANDO:1201068 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Agyria +MONDO:0022402 agyria-pachygyria type 1 NANDO:1201069 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pachygyria +MONDO:0022424 alpha-mannosidosis type 1 NANDO:1200127 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Alpha-mannosidosis, infantile form +MONDO:0022424 alpha-mannosidosis type 1 NANDO:2201188 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Alpha-mannosidosis, infantile form +MONDO:0022800 type 2 collagenopathy NANDO:2201016 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Type II collagenopathy +MONDO:0022858 continuous spike-wave during slow sleep syndrome NANDO:1200601 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Epileptic encephalopathy with continuous spike-and-wave during sleep +MONDO:0022880 obsolete corticobasal degeneration NANDO:1200011 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Corticobasal degeneration +MONDO:0023258 glycogen storage disease type 1 due to SLC37A4 mutation NANDO:1200841 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hepatic glycogen storage disease type Ib +MONDO:0023419 hyperprolinemia NANDO:2200471 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hyperprolinemia +MONDO:0024291 vascular malformation NANDO:2100295 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Vascular malformation +MONDO:0024299 vitamin D-dependent rickets NANDO:1200781 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Vitamin D-dependent rickets / Osteomalacia +MONDO:0024299 vitamin D-dependent rickets NANDO:2100144 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Vitamin D-dependent rickets +MONDO:0024299 vitamin D-dependent rickets NANDO:2200401 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Vitamin D-dependent rickets +MONDO:0024300 hypophosphatemic rickets NANDO:1200778 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Vitamin D-resistant rickets/Vitamin D-resistant osteomalacia +MONDO:0024300 hypophosphatemic rickets NANDO:1200780 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Vitamin D-resistant osteomalacia +MONDO:0024300 hypophosphatemic rickets NANDO:2200402 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Vitamin D-resistant osteomalacia +MONDO:0024300 hypophosphatemic rickets NANDO:2200403 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Primary hypophosphatemic rickets +MONDO:0024308 pseudoxanthoma elasticum (inherited or acquired) NANDO:1200643 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Pseudoxanthoma elasticum +MONDO:0024327 chronic renal failure syndrome NANDO:2100023 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Chronic renal failure +MONDO:0024457 neurodegeneration with brain iron accumulation 2A NANDO:1200537 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neurodegeneration with brain iron accumulation type 2A +MONDO:0024536 glucocorticoid deficiency 1 NANDO:1200408 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO MC2R deficiency +MONDO:0024538 basal ganglia calcification, idiopathic, 1 NANDO:1200208 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Familial idiopathic basal ganglia calcification +MONDO:0024574 von Willebrand disease (hereditary or acquired) NANDO:2200682 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Von Willebrand disease +MONDO:0024623 otorhinolaryngologic disease NANDO:1100015 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Otorhinolaryngological disease +MONDO:0024644 myocardial ischemia NANDO:2100070 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ischemic heart disease +MONDO:0024677 pancreatic insulinoma NANDO:2200398 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Insulinoma +MONDO:0024746 immature teratoma NANDO:2200106 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Immature teratoma +MONDO:0025193 oculopharyngodistal myopathy NANDO:1200219 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Oculopharyngodistal myopathy +MONDO:0028737 obsolete biliary atresia disorder NANDO:1200913 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Biliary atresia +MONDO:0028737 obsolete biliary atresia disorder NANDO:2200930 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO biliary atresia +MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome NANDO:1200649 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ehlers-Danlos syndrome, kyphoscoliotic type +MONDO:0034024 kyphoscoliotic Ehlers-Danlos syndrome NANDO:2201259 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ehlers-Danlos syndrome, kyphoscoliotic type +MONDO:0034976 iatrogenic Creutzfeldt-Jakob disease NANDO:1200193 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Iatrogenic Creutzfeldt-Jakob disease +MONDO:0037792 carbohydrate metabolism disease NANDO:2100164 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Disorder of carbohydrate metabolism +MONDO:0037858 inherited fatty acid metabolism disorder NANDO:2100162 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Disorder of fatty-acid metabolism +MONDO:0037871 amino acid metabolism disease NANDO:2100160 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Disorder of amino acid metabolism +MONDO:0037939 porphyria NANDO:1200811 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Porphyria +MONDO:0042727 sacrococcygeal teratoma NANDO:2100216 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sacrococcygeal teratoma +MONDO:0042727 sacrococcygeal teratoma NANDO:2200816 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Sacrococcygeal teratoma +MONDO:0042727 sacrococcygeal teratoma NANDO:2201287 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Altman type IV sacrococcygeal teratoma +MONDO:0042981 aortic valve stenosis NANDO:2200306 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Aortic valve stenosis +MONDO:0042983 neurocutaneous syndrome NANDO:2100220 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Neurocutaneous syndrome +MONDO:0043094 ichthyosis, follicular NANDO:1200628 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ichthyosis follicularis +MONDO:0043152 negative rheumatoid factor polyarthritis NANDO:2201057 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Rheumatoid factor-negative juvenile idiopathic arthritis +MONDO:0043267 rheumatoid vasculitis NANDO:1200265 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Rheumatoid vasculitis +MONDO:0043317 amyopathic dermatomyositis NANDO:1200275 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Amyopathic dermatomyositis +MONDO:0043472 ectopic ACTH secretion syndrome NANDO:2200351 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ectopic ACTH syndrome +MONDO:0043768 thrombocytopenic purpura NANDO:2100188 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Thrombocytopenic purpura +MONDO:0044354 obsolete Rosai-Dorfman disease NANDO:2200039 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Rosai-Dorfman disease +MONDO:0044742 autosomal recessive epidermolytic ichthyosis NANDO:1200612 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autosomal recessive epidermolytic ichthyosis +MONDO:0044742 autosomal recessive epidermolytic ichthyosis NANDO:2200989 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Autosomal recessive epidermolytic ichthyosis +MONDO:0044744 prekallikrein deficiency NANDO:2200684 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Congenital prekallikrein deficiency +MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma NANDO:1201067 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Nodular lymphocyte predominance Hodgkin lymphoma +MONDO:0044807 inherited dystonia NANDO:1200511 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Hereditary dystonia +MONDO:0044808 obsolete early onset primary dystonia NANDO:1200512 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dystonia 1 +MONDO:0044873 childhood myelodysplastic syndrome NANDO:2100003 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myelodysplastic syndrome +MONDO:0044873 childhood myelodysplastic syndrome NANDO:2200019 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myelodysplastic syndrome +MONDO:0044903 myelofibrosis NANDO:2100200 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myelofibrosis +MONDO:0044903 myelofibrosis NANDO:2200692 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Myelofibrosis +MONDO:0044917 T-lymphoblastic lymphoma NANDO:2200023 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Precursor T lymphoblastic lymphoma +MONDO:0044970 mitochondrial disease NANDO:1200173 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mitochondrial diseases +MONDO:0044970 mitochondrial disease NANDO:2100163 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mitochondrial diseases +MONDO:0045022 disorder of organic acid metabolism NANDO:2100161 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Disorder of organic acid metabolism +MONDO:0045045 selective IgG immunodeficiency NANDO:1200346 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO IgG subclass deficiency +MONDO:0100025 epilepsy of infancy with migrating focal seizures NANDO:1200595 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Epilepsy of infancy with migrating focal seizures +MONDO:0100062 developmental and epileptic encephalopathy NANDO:1200593 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ohtahara syndrome +MONDO:0100064 tyrosine hydroxylase deficiency NANDO:2200595 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Tyrosine hydroxylase deficiency +MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 NANDO:2200662 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Familial platelet disorder with propensity to myeloid. +MONDO:0100133 mitochondrial complex I deficiency NANDO:1200180 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mitochondrial complex I deficiency +MONDO:0100135 Dravet syndrome NANDO:1200587 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Dravet syndrome +MONDO:0100135 Dravet syndrome NANDO:2200877 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Severe myoclonic epilepsy in infancy +MONDO:0100151 nephropathic cystinosis NANDO:1200162 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Nephropathic cystinosis +MONDO:0100151 nephropathic cystinosis NANDO:2201234 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Nephropathic cystinosis +MONDO:0100189 apolipoprotein A-I deficiency NANDO:2200605 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO HDL deficiency +MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive NANDO:2200737 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO STAT5b deficiency +MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome NANDO:2200999 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Ichthyosis-follicularis-atrichia-photophobia syndrome +MONDO:0100222 A20 haploinsufficiency NANDO:1200997 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO A20 haploinsufficiency +MONDO:0100222 A20 haploinsufficiency NANDO:2200458 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO A20 haploinsufficiency +MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 NANDO:1200180 orcid:0000-0003-0011-764X|orcid:0000-0002-0170-9172 MONDO:NANDO Mitochondrial complex I deficiency diff --git a/src/ontology/external/nord.robot.owl b/src/ontology/external/nord.robot.owl index ca0873b3..dba1fa6c 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#"> - + @@ -81019,8 +81019,15 @@ + DNM1-Encephalopathy and Neurodevelopmental Disorder + + + + DNM1-Encephalopathy and Neurodevelopmental Disorder + http://purl.obolibrary.org/obo/mondo#NORD_LABEL + @@ -153692,6 +153699,41 @@ + + + + DNM1-Encephalopathy and Neurodevelopmental Disorder + + + + + + DNM1-Encephalopathy and Neurodevelopmental Disorder + http://purl.obolibrary.org/obo/mondo#NORD_LABEL + + + + + + MONDO:NORD + + + + + + + + + + + + + + MONDO:NORD + + + + diff --git a/src/ontology/external/nord.robot.tsv b/src/ontology/external/nord.robot.tsv index 61f4cc0b..63204c6a 100644 --- a/src/ontology/external/nord.robot.tsv +++ b/src/ontology/external/nord.robot.tsv @@ -1,5 +1,7 @@ mondo_id report_ref report_ref_source preferred_name preferred_name_source synonym_type subset subset_source subset_source2 ID A oboInOwl:hasDbXref >A oboInOwl:source A oboInOwl:hasExactSynonym >A oboInOwl:hasDbXref >A oboInOwl:hasSynonymType AI oboInOwl:inSubset >A oboInOwl:source >A oboInOwl:source +MONDO:0958329 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0957248 DNM1-Encephalopathy and Neurodevelopmental Disorder http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0859190 ZMYM2-related neurodevelopmental disorder with multiple anomalies http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0800459 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014017 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -4835,7 +4837,7 @@ MONDO:0014602 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0014600 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014601 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014599 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0014598 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014598 DNM1-Encephalopathy and Neurodevelopmental Disorder http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014595 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014596 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014594 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD diff --git a/src/ontology/imports/omo_import.owl b/src/ontology/imports/omo_import.owl index 863f62f2..0ca3c11b 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 "2024-05-28") +Annotation(owl:versionInfo "2024-06-01") Declaration(Class()) Declaration(Class()) diff --git a/src/ontology/imports/ro_import.owl b/src/ontology/imports/ro_import.owl index 3c7ac684..af9771f5 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 "2024-05-28") +Annotation(owl:versionInfo "2024-06-01") Declaration(Class()) Declaration(Class()) diff --git a/src/ontology/lexmatch/README.md b/src/ontology/lexmatch/README.md index 157c0ff4..b918ef9d 100644 --- a/src/ontology/lexmatch/README.md +++ b/src/ontology/lexmatch/README.md @@ -3,12 +3,12 @@ * 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): 5 - * Number of mappings in [`unmapped_doid_lex_exact`](unmapped_doid_lex.tsv): 2 - * 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_doid_lex`](unmapped_doid_lex.tsv): 31 + * Number of mappings in [`unmapped_doid_lex_exact`](unmapped_doid_lex.tsv): 17 + * Number of mappings in [`unmapped_doid_mondo`](mondo-only/unmapped_doid_mondo.tsv): 36 + * Number of mappings in [`unmapped_doid_mondo_exact`](mondo-only/unmapped_doid_mondo.tsv): 36 * Number of mappings in [`unmapped_icd10cm_lex`](unmapped_icd10cm_lex.tsv): 1956 - * Number of mappings in [`unmapped_icd10cm_lex_exact`](unmapped_icd10cm_lex.tsv): 1553 + * Number of mappings in [`unmapped_icd10cm_lex_exact`](unmapped_icd10cm_lex.tsv): 1554 * Number of mappings in [`unmapped_icd10cm_mondo`](mondo-only/unmapped_icd10cm_mondo.tsv): 3 * Number of mappings in [`unmapped_icd10cm_mondo_exact`](mondo-only/unmapped_icd10cm_mondo.tsv): 3 * Number of mappings in [`unmapped_icd10who_lex`](unmapped_icd10who_lex.tsv): 1224 @@ -25,32 +25,33 @@ * Number of mappings in [`unmapped_ncit_mondo_exact`](mondo-only/unmapped_ncit_mondo.tsv): 26 * 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): 119 - * Number of mappings in [`unmapped_omim_mondo_exact`](mondo-only/unmapped_omim_mondo.tsv): 119 + * Number of mappings in [`unmapped_omim_mondo`](mondo-only/unmapped_omim_mondo.tsv): 124 + * Number of mappings in [`unmapped_omim_mondo_exact`](mondo-only/unmapped_omim_mondo.tsv): 124 * 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): 881 * Number of mappings in [`unmapped_ordo_mondo_exact`](mondo-only/unmapped_ordo_mondo.tsv): 881 ## mondo_XXXXmatch_ontology - * 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): 880 - * Number of mappings in [`mondo_closematch_doid`](split-mapping-set/mondo_closematch_doid.tsv): 23 - * Number of mappings in [`mondo_exactmatch_doid`](split-mapping-set/mondo_exactmatch_doid.tsv): 37 - * Number of mappings in [`mondo_narrowmatch_doid`](split-mapping-set/mondo_narrowmatch_doid.tsv): 1 * Number of mappings in [`mondo_closematch_icd11.foundation`](split-mapping-set/mondo_closematch_icd11.foundation.tsv): 3021 * Number of mappings in [`mondo_broadmatch_icd11.foundation`](split-mapping-set/mondo_broadmatch_icd11.foundation.tsv): 179 * Number of mappings in [`mondo_exactmatch_icd11.foundation`](split-mapping-set/mondo_exactmatch_icd11.foundation.tsv): 8826 - * 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_exactmatch_icd10who`](split-mapping-set/mondo_exactmatch_icd10who.tsv): 1224 - * Number of mappings in [`mondo_narrowmatch_icd10who`](split-mapping-set/mondo_narrowmatch_icd10who.tsv): 25 * Number of mappings in [`mondo_closematch_ncit`](split-mapping-set/mondo_closematch_ncit.tsv): 75 * Number of mappings in [`mondo_broadmatch_ncit`](split-mapping-set/mondo_broadmatch_ncit.tsv): 10 * Number of mappings in [`mondo_exactmatch_ncit`](split-mapping-set/mondo_exactmatch_ncit.tsv): 145 - * Number of mappings in [`mondo_exactmatch_omimps`](split-mapping-set/mondo_exactmatch_omimps.tsv): 6 - * Number of mappings in [`mondo_closematch_omim`](split-mapping-set/mondo_closematch_omim.tsv): 4 - * Number of mappings in [`mondo_exactmatch_omim`](split-mapping-set/mondo_exactmatch_omim.tsv): 114 - * Number of mappings in [`mondo_closematch_icd10cm`](split-mapping-set/mondo_closematch_icd10cm.tsv): 5995 + * Number of mappings in [`mondo_closematch_doid`](split-mapping-set/mondo_closematch_doid.tsv): 64 + * Number of mappings in [`mondo_broadmatch_doid`](split-mapping-set/mondo_broadmatch_doid.tsv): 2 + * 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): 65 + * 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_icd10cm`](split-mapping-set/mondo_closematch_icd10cm.tsv): 5997 * Number of mappings in [`mondo_broadmatch_icd10cm`](split-mapping-set/mondo_broadmatch_icd10cm.tsv): 69 - * Number of mappings in [`mondo_exactmatch_icd10cm`](split-mapping-set/mondo_exactmatch_icd10cm.tsv): 1957 * 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_omim`](split-mapping-set/mondo_closematch_omim.tsv): 4 + * Number of mappings in [`mondo_exactmatch_omim`](split-mapping-set/mondo_exactmatch_omim.tsv): 118 + * 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): 880 + * Number of mappings in [`mondo_exactmatch_omimps`](split-mapping-set/mondo_exactmatch_omimps.tsv): 7 diff --git a/src/ontology/lexmatch/all_exact.robot.tsv b/src/ontology/lexmatch/all_exact.robot.tsv index 86e71797..56933546 100644 --- a/src/ontology/lexmatch/all_exact.robot.tsv +++ b/src/ontology/lexmatch/all_exact.robot.tsv @@ -90,7 +90,6 @@ MONDO:0001950 MONDO:equivalentTo ICD10CM:H18.71 corneal ectasia Corneal ectasia MONDO:0001965 MONDO:equivalentTo ICD10CM:H16.33 sclerosing keratitis Sclerosing keratitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sclerosing keratitis MONDO:0001982 MONDO:equivalentTo ICD10CM:E75.24 Niemann-Pick disease Niemann-Pick disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label niemann-pick disease MONDO:0001998 MONDO:equivalentTo ICD10CM:H47.14 Foster-Kennedy syndrome Foster-Kennedy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label foster-kennedy syndrome -MONDO:0002003 MONDO:equivalentTo ICD10CM:H47.1 papilledema Papilledema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label papilledema MONDO:0002046 MONDO:equivalentTo ICD10CM:F10.1 alcohol abuse Alcohol abuse semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alcohol abuse MONDO:0002070 MONDO:equivalentTo ICD10CM:Q21.0 ventricular septal defect Ventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ventricular septal defect MONDO:0002127 MONDO:equivalentTo ICD10CM:N35 urethral stricture Urethral stricture semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label urethral stricture @@ -3905,6 +3904,17 @@ MONDO:0958303 MONDO:equivalentTo NCIT:C189242 childhood renal cell carcinoma wit MONDO:0005641 MONDO:equivalentTo DOID:2934 aleutian mink disease aleutian mink disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aleutian mink disease MONDO:0005676 MONDO:equivalentTo DOID:5154 borna disease borna disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label borna disease 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:0014563 MONDO:equivalentTo DOID:0070540 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency mitochondrial short-chain enoyl-CoA hydratase 1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial short-chain enoyl-coa hydratase 1 deficiency +MONDO:0014654 MONDO:equivalentTo DOID:0060948 Ullrich congenital muscular dystrophy 2 Ullrich congenital muscular dystrophy 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ullrich congenital muscular dystrophy 2 +MONDO:0014936 MONDO:equivalentTo DOID:0060953 ZTTK syndrome ZTTK syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label zttk syndrome +MONDO:0026763 MONDO:equivalentTo DOID:0060954 holoprosencephaly 13, X-linked Holoprosencephaly 13, X-linked semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label holoprosencephaly 13, x-linked +MONDO:0030105 MONDO:equivalentTo DOID:0060969 galactosemia 4 galactosemia 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label galactosemia 4 +MONDO:0030500 MONDO:equivalentTo DOID:0060964 Loeys-Dietz syndrome 6 Loeys-Dietz syndrome 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label loeys-dietz syndrome 6 +MONDO:0030866 MONDO:equivalentTo DOID:0070543 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities +MONDO:0031062 MONDO:equivalentTo DOID:0060952 polycystic kidney disease 7 polycystic kidney disease 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polycystic kidney disease 7 +MONDO:0100058 MONDO:equivalentTo DOID:0060950 hypervalinemia and hyperleucine-isoleucinemia hypervalinemia and hyperleucine-isoleucinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypervalinemia and hyperleucine-isoleucinemia +MONDO:0859341 MONDO:equivalentTo DOID:0060968 hypotrichosis 15 hypotrichosis 15 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypotrichosis 15 +MONDO:0957921 MONDO:equivalentTo DOID:0060970 Cornelia de Lange syndrome 6 Cornelia de Lange syndrome 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cornelia de lange syndrome 6 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_doid_mondo.tsv b/src/ontology/lexmatch/mondo-only/unmapped_doid_mondo.tsv index 0fd8859a..aabac194 100644 --- a/src/ontology/lexmatch/mondo-only/unmapped_doid_mondo.tsv +++ b/src/ontology/lexmatch/mondo-only/unmapped_doid_mondo.tsv @@ -25,11 +25,13 @@ MONDO:0004398 mediastinal schwannoma DOID:7922 MONDO:equivalentTo obsolete benig MONDO:0005128 obsolete sensory system disease DOID:0050155 MONDO:equivalentTo sensory system disease semapv:UnspecifiedMatching MONDO:0005862 obsolete multiple chemical sensitivity DOID:4661 MONDO:equivalentTo multiple chemical sensitivity semapv:UnspecifiedMatching MONDO:0012144 Waardenburg syndrome type 2D DOID:0110952 MONDO:equivalentTo obsolete Waardenburg syndrome type 2D semapv:UnspecifiedMatching +MONDO:0012233 obsolete Li-Fraumeni syndrome 2 DOID:0111504 MONDO:equivalentTo Li-Fraumeni syndrome 2 semapv:UnspecifiedMatching MONDO:0017841 obsolete autoimmune disease with skin involvement DOID:0060039 MONDO:equivalentTo autoimmune disease of skin and connective tissue semapv:UnspecifiedMatching MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency DOID:0050594 MONDO:equivalentTo glycogen storage disease IX semapv:UnspecifiedMatching MONDO:0021199 obsolete disease by anatomical system DOID:7 MONDO:equivalentTo disease of anatomical entity semapv:UnspecifiedMatching MONDO:0021668 obsolete disorder involving pain DOID:0060164 MONDO:equivalentTo pain disorder semapv:UnspecifiedMatching MONDO:0024657 obsolete macrocystic neurilemmoma DOID:3203 MONDO:equivalentTo macrocystic neurilemmoma semapv:UnspecifiedMatching +MONDO:0026768 obsolete warfarin sensitivity, X-linked DOID:0080839 MONDO:equivalentTo X-linked warfarin sensitivity semapv:UnspecifiedMatching MONDO:0100140 obsolete mild COVID-19 infection DOID:0081014 MONDO:equivalentTo non-severe COVID-19 semapv:UnspecifiedMatching MONDO:0100142 obsolete severe COVID-19 infection DOID:0081013 MONDO:equivalentTo severe COVID-19 semapv:UnspecifiedMatching MONDO:0100143 obsolete critical COVID-19 infection DOID:0081012 MONDO:equivalentTo critical COVID-19 semapv:UnspecifiedMatching diff --git a/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv b/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv index 547aa020..4ad5f2ca 100644 --- a/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv +++ b/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv @@ -1,6 +1,7 @@ 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:0000049 obsolete invasive pneumococcal disease, recurrent isolated OMIMPS:610799 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0000204 obsolete skin creases, congenital symmetric circumferential OMIMPS:156610 MONDO:equivalentTo Skin creases, congenital symmetric circumferential semapv:UnspecifiedMatching MONDO:0000218 obsolete preimplantation embryonic lethality OMIMPS:616814 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0000911 obsolete dilated cardiomyopathy 1T OMIM:613740 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0007061 obsolete acylase, cobalt-activated OMIM:102590 MONDO:equivalentTo semapv:UnspecifiedMatching @@ -44,6 +45,7 @@ MONDO:0010859 obsolete atrioventricular septal defect 3 OMIM:600309 MONDO:equiva MONDO:0011111 obsolete horns in sheep OMIM:601563 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0011543 obsolete BRCA3 OMIM:605365 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0011554 obsolete deafness, nonsyndromic, modifier 1 OMIM:605429 MONDO:equivalentTo deafness, autosomal recessive 26, modifier of semapv:UnspecifiedMatching +MONDO:0011704 obsolete glaucoma 1, open angle, B OMIM:606689 MONDO:equivalentTo glaucoma 1, open angle, B semapv:UnspecifiedMatching MONDO:0011798 hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration OMIM:607236 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0011809 obsolete mammographic density OMIM:607308 MONDO:equivalentTo mammographic density semapv:UnspecifiedMatching MONDO:0011910 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C OMIM:607801 MONDO:equivalentTo semapv:UnspecifiedMatching @@ -51,9 +53,12 @@ MONDO:0012140 obsolete pulmonary function OMIM:608852 MONDO:equivalentTo pulmona MONDO:0012144 Waardenburg syndrome type 2D OMIM:608890 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0012148 obsolete drug metabolism, poor, CYP2D6-related OMIM:608902 MONDO:equivalentTo drug metabolism, poor, cyp2d6-related semapv:UnspecifiedMatching MONDO:0012294 obsolete drug metabolism, poor, Cyp2C19-related OMIM:609535 MONDO:equivalentTo drug metabolism, poor, cyp2c19-related semapv:UnspecifiedMatching +MONDO:0012337 obsolete glaucoma 1, open angle, I OMIM:609745 MONDO:equivalentTo glaucoma 1, open angle, 1 semapv:UnspecifiedMatching +MONDO:0012357 obsolete glaucoma 1, open angle, G OMIM:609887 MONDO:equivalentTo glaucoma 1, open angle, g semapv:UnspecifiedMatching MONDO:0012461 obsolete bulimia nervosa, susceptibility to, 2 OMIM:610269 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0012501 obsolete mutagen sensitivity OMIM:610452 MONDO:equivalentTo mutagen sensitivity semapv:UnspecifiedMatching MONDO:0012560 obsolete invasive pneumococcal disease, recurrent isolated, 1 OMIM:610799 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0012646 obsolete glaucoma 1, open angle, H OMIM:611276 MONDO:equivalentTo glaucoma 1, open angle, h semapv:UnspecifiedMatching MONDO:0012663 obsolete Plasmodium falciparum fever episodes quantitative trait locus 1 OMIM:611384 MONDO:equivalentTo plasmodium falciparum fever episodes quantitative trait locus 1 semapv:UnspecifiedMatching MONDO:0013001 obsolete synesthesia OMIM:612759 MONDO:equivalentTo synesthesia semapv:UnspecifiedMatching MONDO:0013586 obsolete Chitotriosidase deficiency OMIM:614122 MONDO:equivalentTo chitotriosidase deficiency semapv:UnspecifiedMatching diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_doid.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_doid.tsv new file mode 100644 index 00000000..033e9ca4 --- /dev/null +++ b/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_doid.tsv @@ -0,0 +1,3 @@ +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:0015612 Dent disease skos:broadMatch DOID:0081453 Dent disease 1 semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym rdfs:label dent disease 1 LEXMATCH +MONDO:0015612 Dent disease skos:broadMatch DOID:0081454 Dent disease 2 semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym rdfs:label dent disease 2 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 9b0cd8d7..472c3566 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_doid.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_doid.tsv @@ -1,4 +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:0000355 Ullrich congenital muscular dystrophy skos:closeMatch DOID:0060948 Ullrich congenital muscular dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:4769 LEXMATCH +MONDO:0001516 spinal muscular atrophy skos:closeMatch DOID:0060160 childhood spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:7674 LEXMATCH +MONDO:0004037 retinal edema skos:closeMatch DOID:146 papilledema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010211 LEXMATCH MONDO:0005641 aleutian mink disease skos:closeMatch DOID:2934 aleutian mink disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000453 LEXMATCH MONDO:0005641 aleutian mink disease skos:closeMatch DOID:2934 aleutian mink disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch mesh:d000453 LEXMATCH MONDO:0005641 aleutian mink disease skos:closeMatch DOID:2934 aleutian mink disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aleutian disease LEXMATCH @@ -14,6 +17,44 @@ 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 oio:hasRelatedSynonym rdfs:label chronic inflammatory demyelinating polyneuritis LEXMATCH MONDO:0006702 chronic inflammatory demyelinating polyradiculoneuropathy skos:closeMatch DOID:2536 chronic inflammatory demyelinating polyneuritis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref icd10cm:g61.81 LEXMATCH 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:0006879 optic papillitis skos:closeMatch DOID:146 papilledema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010211 LEXMATCH +MONDO:0006879 optic papillitis skos:closeMatch DOID:146 papilledema semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:d010211 LEXMATCH +MONDO:0008227 peripheral dysostosis skos:closeMatch DOID:14669 acrodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:2015 LEXMATCH +MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:8387 LEXMATCH +MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538324 LEXMATCH +MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch gard:8387 LEXMATCH +MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch mesh:c538324 LEXMATCH +MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmg-coa lyase deficiency LEXMATCH +MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmgcl deficiency LEXMATCH +MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasRelatedSynonym hl deficiency LEXMATCH +MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c538324 LEXMATCH +MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:closeMatch DOID:0060949 3-hydroxyisobutryl-CoA hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:13202 LEXMATCH +MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:closeMatch DOID:0060949 3-hydroxyisobutryl-CoA hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym valine metabolic defect LEXMATCH +MONDO:0009642 orofaciodigital syndrome type II skos:closeMatch DOID:0060959 orofaciodigital syndrome II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:3701 LEXMATCH +MONDO:0009642 orofaciodigital syndrome type II skos:closeMatch DOID:0060959 orofaciodigital syndrome II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome ii LEXMATCH +MONDO:0009727 atelosteogenesis type II skos:closeMatch DOID:14687 diastrophic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icd10cm:q77.5 LEXMATCH +MONDO:0010225 Dent disease type 1 skos:closeMatch DOID:0081453 Dent disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dent disease 1 LEXMATCH +MONDO:0010359 Dent disease type 2 skos:closeMatch DOID:0081454 Dent disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564487 LEXMATCH +MONDO:0010359 Dent disease type 2 skos:closeMatch DOID:0081454 Dent disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dent disease 2 LEXMATCH +MONDO:0010359 Dent disease type 2 skos:closeMatch DOID:0081454 Dent disease 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c564487 LEXMATCH +MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency skos:closeMatch DOID:0070544 congenital glutamine deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:9848 LEXMATCH +MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency skos:closeMatch DOID:0070544 congenital glutamine deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch gard:9848 LEXMATCH +MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency skos:closeMatch DOID:0070544 congenital glutamine deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital glutamine deficiency LEXMATCH +MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency skos:closeMatch DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasRelatedSynonym hl deficiency LEXMATCH +MONDO:0014413 orofaciodigital syndrome type 14 skos:closeMatch DOID:0060958 orofaciodigital syndrome XIV semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:13655 LEXMATCH +MONDO:0014413 orofaciodigital syndrome type 14 skos:closeMatch DOID:0060958 orofaciodigital syndrome XIV semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome xiv LEXMATCH +MONDO:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency skos:closeMatch DOID:0070540 mitochondrial short-chain enoyl-CoA hydratase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:13019 LEXMATCH +MONDO:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency skos:closeMatch DOID:0070540 mitochondrial short-chain enoyl-CoA hydratase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch gard:13019 LEXMATCH +MONDO:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency skos:closeMatch DOID:0070540 mitochondrial short-chain enoyl-CoA hydratase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial short-chain enoyl-coa hydratase 1 deficiency LEXMATCH +MONDO:0014936 ZTTK syndrome skos:closeMatch DOID:0060953 ZTTK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:13489 LEXMATCH +MONDO:0014936 ZTTK syndrome skos:closeMatch DOID:0060953 ZTTK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zhu-tokita-takenouchi-kim syndrome LEXMATCH +MONDO:0014936 ZTTK syndrome skos:closeMatch DOID:0060953 ZTTK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zttk multiple congenital anomalies-mental retardation syndrome LEXMATCH +MONDO:0018116 galactosemia skos:closeMatch DOID:14695 galactokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005693 LEXMATCH +MONDO:0018116 galactosemia skos:closeMatch DOID:14695 galactokinase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:d005693 LEXMATCH +MONDO:0019287 ectodermal dysplasia syndrome skos:closeMatch DOID:14693 Clouston syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004476 LEXMATCH +MONDO:0019287 ectodermal dysplasia syndrome skos:closeMatch DOID:14693 Clouston syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:d004476 LEXMATCH +MONDO:0026763 holoprosencephaly 13, X-linked skos:closeMatch DOID:0060954 Holoprosencephaly 13, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label holoprosencephaly 13, x-linked LEXMATCH +MONDO:0054770 orofaciodigital syndrome 18 skos:closeMatch DOID:0060961 orofaciodigital syndrome XVIII semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome xviii LEXMATCH MONDO:0957421 borna virus encephalitis skos:closeMatch DOID:5154 borna disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001890 LEXMATCH MONDO:0957421 borna virus encephalitis skos:closeMatch DOID:5154 borna disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch mesh:d001890 LEXMATCH MONDO:0957421 borna virus encephalitis skos:closeMatch DOID:5154 borna disease semapv:LexicalMatching oaklib 0.5 skos:relatedMatch oio:hasDbXref mesh:d001890 LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd10cm.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd10cm.tsv index 8b22f56e..80b1193c 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd10cm.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd10cm.tsv @@ -832,8 +832,6 @@ MONDO:0001988 external pathological resorption skos:closeMatch ICD10CM:K03.3 Pat MONDO:0001988 external pathological resorption skos:closeMatch ICD10CM:K03.3 Pathological resorption of teeth semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:14529 LEXMATCH MONDO:0001998 Foster-Kennedy syndrome skos:closeMatch ICD10CM:H47.14 Foster-Kennedy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:14555 LEXMATCH MONDO:0001998 Foster-Kennedy syndrome skos:closeMatch ICD10CM:H47.14 Foster-Kennedy syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:14555 LEXMATCH -MONDO:0002003 papilledema skos:closeMatch ICD10CM:H47.1 Papilledema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:146 LEXMATCH -MONDO:0002003 papilledema skos:closeMatch ICD10CM:H47.1 Papilledema semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:146 LEXMATCH MONDO:0002009 major depressive disorder skos:closeMatch ICD10CM:F33.9 Major depressive disorder, recurrent, unspecified semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:1470 LEXMATCH MONDO:0002009 major depressive disorder skos:closeMatch ICD10CM:F33.9 Major depressive disorder, recurrent, unspecified semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:1470 LEXMATCH MONDO:0002013 lymphangioma skos:closeMatch ICD10CM:D18.1 Lymphangioma, any site semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:1475 LEXMATCH @@ -2618,7 +2616,9 @@ MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch ICD10C MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch ICD10CM:G24.1 Genetic torsion dystonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0060730 LEXMATCH MONDO:0007493 torsion dystonia 4 skos:closeMatch ICD10CM:G24.1 Genetic torsion dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0090041 LEXMATCH MONDO:0007493 torsion dystonia 4 skos:closeMatch ICD10CM:G24.1 Genetic torsion dystonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0090041 LEXMATCH +MONDO:0007495 dystonia 5 skos:closeMatch ICD10CM:G24.1 Genetic torsion dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0060963 LEXMATCH MONDO:0007495 dystonia 5 skos:closeMatch ICD10CM:G24.1 Genetic torsion dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0090043 LEXMATCH +MONDO:0007495 dystonia 5 skos:closeMatch ICD10CM:G24.1 Genetic torsion dystonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0060963 LEXMATCH MONDO:0007495 dystonia 5 skos:closeMatch ICD10CM:G24.1 Genetic torsion dystonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0090043 LEXMATCH MONDO:0007496 dystonia 12 skos:closeMatch ICD10CM:G24.1 Genetic torsion dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0090056 LEXMATCH MONDO:0007496 dystonia 12 skos:closeMatch ICD10CM:G24.1 Genetic torsion dystonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0090056 LEXMATCH @@ -5042,6 +5042,8 @@ MONDO:0014871 retinitis pigmentosa 75 skos:closeMatch ICD10CM:H35.5 Hereditary r MONDO:0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y skos:closeMatch ICD10CM:G71.0 Muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0110289 LEXMATCH MONDO:0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y skos:closeMatch ICD10CM:G71.0 Muscular dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0110289 LEXMATCH MONDO:0014920 patterned macular dystrophy 3 skos:closeMatch ICD10CM:H35.5 Hereditary retinal dystrophy semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0014920 LEXMATCH +MONDO:0015004 dystonia 28, childhood-onset skos:closeMatch ICD10CM:G24.8 Other dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0060936 LEXMATCH +MONDO:0015004 dystonia 28, childhood-onset skos:closeMatch ICD10CM:G24.8 Other dystonia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0060936 LEXMATCH MONDO:0015013 retinitis pigmentosa 77 skos:closeMatch ICD10CM:H35.5 Hereditary retinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0080350 LEXMATCH MONDO:0015013 retinitis pigmentosa 77 skos:closeMatch ICD10CM:H35.5 Hereditary retinal dystrophy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0080350 LEXMATCH MONDO:0015043 extramedullary soft tissue plasmacytoma skos:closeMatch ICD10CM:C90.2 Extramedullary plasmacytoma semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0015043 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 834c1099..212930fb 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv @@ -25,14 +25,42 @@ MONDO:0005128 obsolete sensory system disease skos:exactMatch DOID:0050155 senso MONDO:0005641 aleutian mink disease skos:exactMatch DOID:2934 aleutian mink disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aleutian mink disease LEXMATCH MONDO:0005676 borna disease skos:exactMatch DOID:5154 borna disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label borna disease LEXMATCH MONDO:0005862 obsolete multiple chemical sensitivity skos:exactMatch DOID:4661 multiple chemical sensitivity semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0006879 optic papillitis skos:exactMatch DOID:146 papilledema semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label papilledema LEXMATCH 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:0009520 3-hydroxy-3-methylglutaric aciduria skos:exactMatch DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c538324 LEXMATCH +MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:exactMatch DOID:0060949 3-hydroxyisobutryl-CoA hydrolase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hibch deficiency LEXMATCH +MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:exactMatch DOID:0060949 3-hydroxyisobutryl-CoA hydrolase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym methacrylic aciduria LEXMATCH +MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:exactMatch DOID:0060949 3-hydroxyisobutryl-CoA hydrolase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 3-hydroxyisobutryl-coa hydrolase deficiency LEXMATCH +MONDO:0009642 orofaciodigital syndrome type II skos:exactMatch DOID:0060959 orofaciodigital syndrome II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mohr syndrome LEXMATCH +MONDO:0009642 orofaciodigital syndrome type II skos:exactMatch DOID:0060959 orofaciodigital syndrome II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oral-facial-digital syndrome type 2 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:0012144 Waardenburg syndrome type 2D skos:exactMatch DOID:0110952 obsolete Waardenburg syndrome type 2D semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012233 obsolete Li-Fraumeni syndrome 2 skos:exactMatch DOID:0111504 Li-Fraumeni syndrome 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency skos:exactMatch DOID:0070540 mitochondrial short-chain enoyl-CoA hydratase 1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial short-chain enoyl-coa hydratase 1 deficiency LEXMATCH +MONDO:0014567 glutamate pyruvate transaminase 2 deficiency skos:exactMatch DOID:0070542 neurodevelopmental disorder with spastic paraplegia and microcephaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glutamate pyruvate transaminase 2 deficiency LEXMATCH +MONDO:0014567 glutamate pyruvate transaminase 2 deficiency skos:exactMatch DOID:0070542 neurodevelopmental disorder with spastic paraplegia and microcephaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gpt2 deficiency LEXMATCH +MONDO:0014567 glutamate pyruvate transaminase 2 deficiency skos:exactMatch DOID:0070542 neurodevelopmental disorder with spastic paraplegia and microcephaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrt49 LEXMATCH +MONDO:0014567 glutamate pyruvate transaminase 2 deficiency skos:exactMatch DOID:0070542 neurodevelopmental disorder with spastic paraplegia and microcephaly semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glutamate pyruvate transaminase 2 deficiency LEXMATCH +MONDO:0014654 Ullrich congenital muscular dystrophy 2 skos:exactMatch DOID:0060948 Ullrich congenital muscular dystrophy 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ullrich congenital muscular dystrophy 2 LEXMATCH +MONDO:0014936 ZTTK syndrome skos:exactMatch DOID:0060953 ZTTK syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label zttk syndrome 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: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:0026763 holoprosencephaly 13, X-linked skos:exactMatch DOID:0060954 Holoprosencephaly 13, X-linked semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label holoprosencephaly 13, x-linked LEXMATCH +MONDO:0026768 obsolete warfarin sensitivity, X-linked skos:exactMatch DOID:0080839 X-linked warfarin sensitivity semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0030105 galactosemia 4 skos:exactMatch DOID:0060969 galactosemia 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label galactosemia 4 LEXMATCH +MONDO:0030500 Loeys-Dietz syndrome 6 skos:exactMatch DOID:0060964 Loeys-Dietz syndrome 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label loeys-dietz syndrome 6 LEXMATCH +MONDO:0030866 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities skos:exactMatch DOID:0070543 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities LEXMATCH +MONDO:0031062 polycystic kidney disease 7 skos:exactMatch DOID:0060952 polycystic kidney disease 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polycystic kidney disease 7 LEXMATCH +MONDO:0034823 oral-facial-digital syndrome with short stature and brachymesophalangy skos:exactMatch DOID:0060961 orofaciodigital syndrome XVIII semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oral-facial-digital syndrome type 18 LEXMATCH +MONDO:0034823 oral-facial-digital syndrome with short stature and brachymesophalangy skos:exactMatch DOID:0060961 orofaciodigital syndrome XVIII semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym orofaciodigital syndrome type 18 LEXMATCH +MONDO:0034823 oral-facial-digital syndrome with short stature and brachymesophalangy skos:exactMatch DOID:0060961 orofaciodigital syndrome XVIII semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym oral-facial-digital syndrome with short stature and brachymesophalangy LEXMATCH +MONDO:0100058 hypervalinemia and hyperleucine-isoleucinemia skos:exactMatch DOID:0060950 hypervalinemia and hyperleucine-isoleucinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypervalinemia and hyperleucine-isoleucinemia LEXMATCH 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:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:exactMatch DOID:14671 multiple intestinal atresia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial intestinal polyatresia syndrome LEXMATCH +MONDO:0859341 hypotrichosis 15 skos:exactMatch DOID:0060968 hypotrichosis 15 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypotrichosis 15 LEXMATCH +MONDO:0957921 Cornelia de Lange syndrome 6 skos:exactMatch DOID:0060970 Cornelia de Lange syndrome 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cornelia de lange syndrome 6 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 69df9105..41f22bca 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10cm.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10cm.tsv @@ -337,7 +337,6 @@ MONDO:0001979 dumping syndrome skos:exactMatch ICD10CM:K91.1 Postgastric surgery MONDO:0001982 Niemann-Pick disease skos:exactMatch ICD10CM:E75.24 Niemann-Pick disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label niemann-pick disease LEXMATCH MONDO:0001984 candidal paronychia skos:exactMatch ICD10CM:B37.2 Candidiasis of skin and nail semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym candidal paronychia LEXMATCH MONDO:0001998 Foster-Kennedy syndrome skos:exactMatch ICD10CM:H47.14 Foster-Kennedy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label foster-kennedy syndrome LEXMATCH -MONDO:0002003 papilledema skos:exactMatch ICD10CM:H47.1 Papilledema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label papilledema LEXMATCH MONDO:0002033 cecum cancer skos:exactMatch ICD10CM:C18.0 Malignant neoplasm of cecum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant neoplasm of cecum LEXMATCH MONDO:0002043 ectropion skos:exactMatch ICD10CM:H02.1 Ectropion of eyelid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ectropion of eyelid LEXMATCH MONDO:0002046 alcohol abuse skos:exactMatch ICD10CM:F10.1 Alcohol abuse semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alcohol abuse LEXMATCH @@ -859,6 +858,7 @@ MONDO:0006865 necrotizing ulcerative gingivitis skos:exactMatch ICD10CM:A69.1 Ot MONDO:0006865 necrotizing ulcerative gingivitis skos:exactMatch ICD10CM:A69.1 Other Vincent's infections semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vincent's angina LEXMATCH MONDO:0006875 ocular hypertension skos:exactMatch ICD10CM:H40.05 Ocular hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ocular hypertension LEXMATCH MONDO:0006879 optic papillitis skos:exactMatch ICD10CM:H46.0 Optic papillitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label optic papillitis LEXMATCH +MONDO:0006879 optic papillitis skos:exactMatch ICD10CM:H47.1 Papilledema semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label papilledema LEXMATCH MONDO:0006879 optic papillitis skos:exactMatch ICD10CM:H47.11 Papilledema associated with increased intracranial pressure semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label papilledema associated with increased intracranial pressure LEXMATCH MONDO:0006884 panophthalmitis skos:exactMatch ICD10CM:H44.01 Panophthalmitis (acute) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym panophthalmitis LEXMATCH MONDO:0006896 peptic esophagitis skos:exactMatch ICD10CM:K21.00 Gastro-esophageal reflux disease with esophagitis, without bleeding semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym reflux esophagitis 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 462e7d85..ae81a2b5 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 @@ -999,7 +999,6 @@ MONDO:0001999 primary pulmonary hypertension skos:exactMatch icd11.foundation:19 MONDO:0001999 primary pulmonary hypertension skos:exactMatch icd11.foundation:1931148955 Pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym primary pulmonary hypertension LEXMATCH MONDO:0002002 postsurgical hypothyroidism skos:exactMatch icd11.foundation:441607893 Postprocedural hypothyroidism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym postoperative hypothyroidism LEXMATCH MONDO:0002002 postsurgical hypothyroidism skos:exactMatch icd11.foundation:441607893 Postprocedural hypothyroidism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym postsurgical hypothyroidism LEXMATCH -MONDO:0002003 papilledema skos:exactMatch icd11.foundation:385461984 Papilloedema semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label papilloedema LEXMATCH MONDO:0002008 labyrinthitis skos:exactMatch icd11.foundation:901550793 Labyrinthitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label labyrinthitis LEXMATCH MONDO:0002009 major depressive disorder skos:exactMatch icd11.foundation:1669279433 Single episode depressive disorder, severe, without psychotic symptoms semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym major depression LEXMATCH MONDO:0002009 major depressive disorder skos:exactMatch icd11.foundation:1669279433 Single episode depressive disorder, severe, without psychotic symptoms semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym major depressive disorder LEXMATCH @@ -3138,6 +3137,7 @@ MONDO:0006874 obstructive jaundice skos:exactMatch icd11.foundation:54922189 Obs MONDO:0006875 ocular hypertension skos:exactMatch icd11.foundation:535283437 Ocular hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ocular hypertension LEXMATCH MONDO:0006876 ocular tuberculosis skos:exactMatch icd11.foundation:1074723013 Tuberculosis of eye semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ocular tuberculosis LEXMATCH MONDO:0006877 oophoritis skos:exactMatch icd11.foundation:1249127955 Inflammation of ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label inflammation of ovary LEXMATCH +MONDO:0006879 optic papillitis skos:exactMatch icd11.foundation:385461984 Papilloedema semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label papilloedema LEXMATCH MONDO:0006879 optic papillitis skos:exactMatch icd11.foundation:754770308 Anterior optic neuritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym optic papillitis LEXMATCH MONDO:0006879 optic papillitis skos:exactMatch icd11.foundation:754770308 Anterior optic neuritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym optic papillitis LEXMATCH MONDO:0006881 orbital cellulitis skos:exactMatch icd11.foundation:1330743591 Orbital cellulitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label orbital cellulitis 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 ca9d15c4..4af1b68f 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv @@ -41,6 +41,7 @@ MONDO:0010859 obsolete atrioventricular septal defect 3 skos:exactMatch OMIM:600 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:0011704 obsolete glaucoma 1, open angle, B skos:exactMatch OMIM:606689 glaucoma 1, open angle, B 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 @@ -48,9 +49,12 @@ MONDO:0012140 obsolete pulmonary function skos:exactMatch OMIM:608852 pulmonary 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:0012337 obsolete glaucoma 1, open angle, I skos:exactMatch OMIM:609745 glaucoma 1, open angle, 1 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0012357 obsolete glaucoma 1, open angle, G skos:exactMatch OMIM:609887 glaucoma 1, open angle, g 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:0012646 obsolete glaucoma 1, open angle, H skos:exactMatch OMIM:611276 glaucoma 1, open angle, h 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 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 d573f747..d182983e 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omimps.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omimps.tsv @@ -1,5 +1,6 @@ subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment MONDO:0000049 obsolete invasive pneumococcal disease, recurrent isolated skos:exactMatch OMIMPS:610799 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0000204 obsolete skin creases, congenital symmetric circumferential skos:exactMatch OMIMPS:156610 Skin creases, congenital symmetric circumferential semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0000218 obsolete preimplantation embryonic lethality skos:exactMatch OMIMPS:616814 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0011476 MHC class I deficiency skos:exactMatch OMIMPS:604571 MHC class I deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mhc class i deficiency LEXMATCH MONDO:0033196 obsolete skin/hair/eye pigmentation, variation in skos:exactMatch OMIMPS:227220 Skin/hair/eye pigmentation, variation in semapv:UnspecifiedMatching MONDO_MAPPINGS diff --git a/src/ontology/lexmatch/unmapped_doid_lex.tsv b/src/ontology/lexmatch/unmapped_doid_lex.tsv index 8673660b..0cfde325 100644 --- a/src/ontology/lexmatch/unmapped_doid_lex.tsv +++ b/src/ontology/lexmatch/unmapped_doid_lex.tsv @@ -1,3 +1,18 @@ 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:0006879 optic papillitis DOID:146 MONDO:equivalentTo papilledema semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label papilledema +MONDO:0009520 3-hydroxy-3-methylglutaric aciduria DOID:0070541 MONDO:equivalentTo 3-hydroxy-3-methylglutaryl-CoA lyase deficiency semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c538324 +MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency DOID:0060949 MONDO:equivalentTo 3-hydroxyisobutryl-CoA hydrolase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hibch deficiency +MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency DOID:0060949 MONDO:equivalentTo 3-hydroxyisobutryl-CoA hydrolase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym methacrylic aciduria +MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency DOID:0060949 MONDO:equivalentTo 3-hydroxyisobutryl-CoA hydrolase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 3-hydroxyisobutryl-coa hydrolase deficiency +MONDO:0009642 orofaciodigital syndrome type II DOID:0060959 MONDO:equivalentTo orofaciodigital syndrome II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mohr syndrome +MONDO:0009642 orofaciodigital syndrome type II DOID:0060959 MONDO:equivalentTo orofaciodigital syndrome II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oral-facial-digital syndrome type 2 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:0014567 glutamate pyruvate transaminase 2 deficiency DOID:0070542 MONDO:equivalentTo neurodevelopmental disorder with spastic paraplegia and microcephaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glutamate pyruvate transaminase 2 deficiency +MONDO:0014567 glutamate pyruvate transaminase 2 deficiency DOID:0070542 MONDO:equivalentTo neurodevelopmental disorder with spastic paraplegia and microcephaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gpt2 deficiency +MONDO:0014567 glutamate pyruvate transaminase 2 deficiency DOID:0070542 MONDO:equivalentTo neurodevelopmental disorder with spastic paraplegia and microcephaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrt49 +MONDO:0014567 glutamate pyruvate transaminase 2 deficiency DOID:0070542 MONDO:equivalentTo neurodevelopmental disorder with spastic paraplegia and microcephaly semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glutamate pyruvate transaminase 2 deficiency +MONDO:0034823 oral-facial-digital syndrome with short stature and brachymesophalangy DOID:0060961 MONDO:equivalentTo orofaciodigital syndrome XVIII semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oral-facial-digital syndrome type 18 +MONDO:0034823 oral-facial-digital syndrome with short stature and brachymesophalangy DOID:0060961 MONDO:equivalentTo orofaciodigital syndrome XVIII semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym orofaciodigital syndrome type 18 +MONDO:0034823 oral-facial-digital syndrome with short stature and brachymesophalangy DOID:0060961 MONDO:equivalentTo orofaciodigital syndrome XVIII semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym oral-facial-digital syndrome with short stature and brachymesophalangy +MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 DOID:14671 MONDO:equivalentTo multiple intestinal atresia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial intestinal polyatresia syndrome diff --git a/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv b/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv index bab9455e..b4f11800 100644 --- a/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv +++ b/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv @@ -3,3 +3,14 @@ ID A oboInOwl:hasDbXref >A oboInOwl:source MONDO:0005641 aleutian mink disease DOID:2934 MONDO:equivalentTo aleutian mink disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aleutian mink disease MONDO:0005676 borna disease DOID:5154 MONDO:equivalentTo borna disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label borna disease 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:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency DOID:0070540 MONDO:equivalentTo mitochondrial short-chain enoyl-CoA hydratase 1 deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial short-chain enoyl-coa hydratase 1 deficiency +MONDO:0014654 Ullrich congenital muscular dystrophy 2 DOID:0060948 MONDO:equivalentTo Ullrich congenital muscular dystrophy 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ullrich congenital muscular dystrophy 2 +MONDO:0014936 ZTTK syndrome DOID:0060953 MONDO:equivalentTo ZTTK syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label zttk syndrome +MONDO:0026763 holoprosencephaly 13, X-linked DOID:0060954 MONDO:equivalentTo Holoprosencephaly 13, X-linked semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label holoprosencephaly 13, x-linked +MONDO:0030105 galactosemia 4 DOID:0060969 MONDO:equivalentTo galactosemia 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label galactosemia 4 +MONDO:0030500 Loeys-Dietz syndrome 6 DOID:0060964 MONDO:equivalentTo Loeys-Dietz syndrome 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label loeys-dietz syndrome 6 +MONDO:0030866 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities DOID:0070543 MONDO:equivalentTo neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities +MONDO:0031062 polycystic kidney disease 7 DOID:0060952 MONDO:equivalentTo polycystic kidney disease 7 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polycystic kidney disease 7 +MONDO:0100058 hypervalinemia and hyperleucine-isoleucinemia DOID:0060950 MONDO:equivalentTo hypervalinemia and hyperleucine-isoleucinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypervalinemia and hyperleucine-isoleucinemia +MONDO:0859341 hypotrichosis 15 DOID:0060968 MONDO:equivalentTo hypotrichosis 15 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypotrichosis 15 +MONDO:0957921 Cornelia de Lange syndrome 6 DOID:0060970 MONDO:equivalentTo Cornelia de Lange syndrome 6 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cornelia de lange syndrome 6 diff --git a/src/ontology/lexmatch/unmapped_icd10cm_lex.tsv b/src/ontology/lexmatch/unmapped_icd10cm_lex.tsv index 85f7545f..da798e1b 100644 --- a/src/ontology/lexmatch/unmapped_icd10cm_lex.tsv +++ b/src/ontology/lexmatch/unmapped_icd10cm_lex.tsv @@ -658,6 +658,7 @@ MONDO:0006862 myofascial pain syndrome ICD10CM:M79.1 MONDO:equivalentTo Myalgia MONDO:0006864 necrotizing sialometaplasia ICD10CM:K11.8 MONDO:equivalentTo Other diseases of salivary glands semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym necrotizing sialometaplasia MONDO:0006865 necrotizing ulcerative gingivitis ICD10CM:A69.1 MONDO:equivalentTo Other Vincent's infections semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trench mouth MONDO:0006865 necrotizing ulcerative gingivitis ICD10CM:A69.1 MONDO:equivalentTo Other Vincent's infections semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vincent's angina +MONDO:0006879 optic papillitis ICD10CM:H47.1 MONDO:equivalentTo Papilledema semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label papilledema MONDO:0006879 optic papillitis ICD10CM:H47.11 MONDO:equivalentTo Papilledema associated with increased intracranial pressure semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label papilledema associated with increased intracranial pressure MONDO:0006884 panophthalmitis ICD10CM:H44.01 MONDO:equivalentTo Panophthalmitis (acute) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym panophthalmitis MONDO:0006896 peptic esophagitis ICD10CM:K21.00 MONDO:equivalentTo Gastro-esophageal reflux disease with esophagitis, without bleeding semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym reflux esophagitis diff --git a/src/ontology/lexmatch/unmapped_icd10cm_lex_exact.tsv b/src/ontology/lexmatch/unmapped_icd10cm_lex_exact.tsv index 93a3a63f..100171ff 100644 --- a/src/ontology/lexmatch/unmapped_icd10cm_lex_exact.tsv +++ b/src/ontology/lexmatch/unmapped_icd10cm_lex_exact.tsv @@ -88,7 +88,6 @@ MONDO:0001950 corneal ectasia ICD10CM:H18.71 MONDO:equivalentTo Corneal ectasia MONDO:0001965 sclerosing keratitis ICD10CM:H16.33 MONDO:equivalentTo Sclerosing keratitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sclerosing keratitis MONDO:0001982 Niemann-Pick disease ICD10CM:E75.24 MONDO:equivalentTo Niemann-Pick disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label niemann-pick disease MONDO:0001998 Foster-Kennedy syndrome ICD10CM:H47.14 MONDO:equivalentTo Foster-Kennedy syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label foster-kennedy syndrome -MONDO:0002003 papilledema ICD10CM:H47.1 MONDO:equivalentTo Papilledema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label papilledema MONDO:0002046 alcohol abuse ICD10CM:F10.1 MONDO:equivalentTo Alcohol abuse semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alcohol abuse MONDO:0002070 ventricular septal defect ICD10CM:Q21.0 MONDO:equivalentTo Ventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ventricular septal defect MONDO:0002127 urethral stricture ICD10CM:N35 MONDO:equivalentTo Urethral stricture semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label urethral stricture diff --git a/src/ontology/lexmatch/unmapped_icd11foundation_lex.tsv b/src/ontology/lexmatch/unmapped_icd11foundation_lex.tsv index 65e09a13..974be5bc 100644 --- a/src/ontology/lexmatch/unmapped_icd11foundation_lex.tsv +++ b/src/ontology/lexmatch/unmapped_icd11foundation_lex.tsv @@ -677,7 +677,6 @@ MONDO:0001999 primary pulmonary hypertension icd11.foundation:1931148955 MONDO:e MONDO:0001999 primary pulmonary hypertension icd11.foundation:1931148955 MONDO:equivalentTo Pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym primary pulmonary hypertension MONDO:0002002 postsurgical hypothyroidism icd11.foundation:441607893 MONDO:equivalentTo Postprocedural hypothyroidism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym postoperative hypothyroidism MONDO:0002002 postsurgical hypothyroidism icd11.foundation:441607893 MONDO:equivalentTo Postprocedural hypothyroidism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym postsurgical hypothyroidism -MONDO:0002003 papilledema icd11.foundation:385461984 MONDO:equivalentTo Papilloedema semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label papilloedema MONDO:0002009 major depressive disorder icd11.foundation:1669279433 MONDO:equivalentTo Single episode depressive disorder, severe, without psychotic symptoms semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym major depression MONDO:0002009 major depressive disorder icd11.foundation:1669279433 MONDO:equivalentTo Single episode depressive disorder, severe, without psychotic symptoms semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym major depressive disorder MONDO:0002009 major depressive disorder icd11.foundation:1669279433 MONDO:equivalentTo Single episode depressive disorder, severe, without psychotic symptoms semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym major depressive disorder @@ -2295,6 +2294,7 @@ MONDO:0006874 obstructive jaundice icd11.foundation:54922189 MONDO:equivalentTo MONDO:0006874 obstructive jaundice icd11.foundation:54922189 MONDO:equivalentTo Obstruction of bile duct semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obstructive jaundice MONDO:0006876 ocular tuberculosis icd11.foundation:1074723013 MONDO:equivalentTo Tuberculosis of eye semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ocular tuberculosis MONDO:0006877 oophoritis icd11.foundation:1249127955 MONDO:equivalentTo Inflammation of ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label inflammation of ovary +MONDO:0006879 optic papillitis icd11.foundation:385461984 MONDO:equivalentTo Papilloedema semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label papilloedema MONDO:0006879 optic papillitis icd11.foundation:754770308 MONDO:equivalentTo Anterior optic neuritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym optic papillitis MONDO:0006879 optic papillitis icd11.foundation:754770308 MONDO:equivalentTo Anterior optic neuritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym optic papillitis MONDO:0006882 orchitis icd11.foundation:1484511712 MONDO:equivalentTo Inflammation of testis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym orchitis diff --git a/src/ontology/metadata/doid-metrics.json b/src/ontology/metadata/doid-metrics.json index f4a09988..b8429780 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": 115971, - "axiom_count_incl": 115971, - "class_count": 13099, - "class_count_incl": 13099, + "axiom_count": 110948, + "axiom_count_incl": 110948, + "class_count": 13124, + "class_count_incl": 13124, "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": 16110, - "logical_axiom_count_incl": 16110, - "obj_property_count": 2, - "obj_property_count_incl": 2, + "logical_axiom_count": 16161, + "logical_axiom_count_incl": 16161, + "obj_property_count": 0, + "obj_property_count_incl": 0, "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/2024-05-28/doid.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-06-01/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": 13130, - "signature_entity_count_incl": 13130, + "signature_entity_count": 13153, + "signature_entity_count_incl": 13153, "syntax": "RDF/XML Syntax", - "tbox_axiom_count": 16110, - "tbox_axiom_count_incl": 16110, - "tboxrbox_axiom_count": 16110, - "tboxrbox_axiom_count_incl": 16110, + "tbox_axiom_count": 16161, + "tbox_axiom_count_incl": 16161, + "tboxrbox_axiom_count": 16161, + "tboxrbox_axiom_count_incl": 16161, "axiom_types": [ "AnnotationAssertion", "SubAnnotationPropertyOf", @@ -67,24 +67,24 @@ "valid_imports": [], "valid_imports_incl": [], "axiom_type_count": { - "AnnotationAssertion": 86733, + "AnnotationAssertion": 81636, "SubAnnotationPropertyOf": 1, "DisjointClasses": 26, - "Declaration": 13127, - "SubClassOf": 16084 + "Declaration": 13150, + "SubClassOf": 16135 }, "axiom_type_count_incl": { - "AnnotationAssertion": 86733, + "AnnotationAssertion": 81636, "SubAnnotationPropertyOf": 1, "DisjointClasses": 26, - "Declaration": 13127, - "SubClassOf": 16084 + "Declaration": 13150, + "SubClassOf": 16135 }, "class_expression_count": { - "Class": 45479 + "Class": 45606 }, "class_expression_count_incl": { - "Class": 45479 + "Class": 45606 }, "curie_map": { "oboInOwl": "http://www.geneontology.org/formats/oboInOwl#", @@ -95,7 +95,6 @@ "skos": "http://www.w3.org/2004/02/skos/core#", "CL": "http://purl.obolibrary.org/obo/CL_", "rdfs": "http://www.w3.org/2000/01/rdf-schema#", - "BFO": "http://purl.obolibrary.org/obo/BFO_", "FOODON": "http://purl.obolibrary.org/obo/FOODON_", "NCBITaxon": "http://purl.obolibrary.org/obo/NCBITaxon_", "TRANS": "http://purl.obolibrary.org/obo/TRANS_", @@ -111,21 +110,20 @@ "dc": "http://purl.org/dc/terms/" }, "namespace_axiom_count": { - "oboInOwl": 57634, + "oboInOwl": 57715, "owl": 2484, - "DOID": 43932, + "DOID": 44059, "HP": 118, - "skos": 5906, + "skos": 693, "CL": 63, - "rdfs": 19758, - "BFO": 2, + "rdfs": 19787, "FOODON": 24, "NCBITaxon": 322, "TRANS": 13, "SYMP": 306, "dc11": 2, "rdf": 61, - "IAO": 2211, + "IAO": 2216, "CHEBI": 90, "UBERON": 394, "SO": 17, @@ -134,21 +132,20 @@ "dc": 1 }, "namespace_axiom_count_incl": { - "oboInOwl": 57634, + "oboInOwl": 57715, "owl": 2484, - "DOID": 43932, + "DOID": 44059, "HP": 118, - "skos": 5906, + "skos": 693, "CL": 63, - "rdfs": 19758, - "BFO": 2, + "rdfs": 19787, "FOODON": 24, "NCBITaxon": 322, "TRANS": 13, "SYMP": 306, "dc11": 2, "rdf": 61, - "IAO": 2211, + "IAO": 2216, "CHEBI": 90, "UBERON": 394, "SO": 17, @@ -159,12 +156,11 @@ "namespace_entity_count": { "oboInOwl": 12, "owl": 2, - "DOID": 11552, + "DOID": 11577, "HP": 118, "xsd": 1, "CL": 63, "skos": 5, - "BFO": 2, "rdfs": 2, "FOODON": 24, "NCBITaxon": 322, @@ -183,12 +179,11 @@ "namespace_entity_count_incl": { "oboInOwl": 12, "owl": 2, - "DOID": 11552, + "DOID": 11577, "HP": 118, "xsd": 1, "CL": 63, "skos": 5, - "BFO": 2, "rdfs": 2, "FOODON": 24, "NCBITaxon": 322, diff --git a/src/ontology/metadata/gard-metrics.json b/src/ontology/metadata/gard-metrics.json index 181c64d2..85a171e3 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/2024-05-28/gard.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-06-01/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 4fe05cc3..8bd0b208 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/2024-05-28/icd10cm.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-06-01/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 2360c709..1ec29b36 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/2024-05-28/icd10who.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-06-01/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 f73f108b..c5163876 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/2024-05-28/icd11foundation.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-06-01/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 dcf4a436..7ffa3e15 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/2024-05-28/ncit.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-06-01/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 8b40a4a7..8928836e 100644 --- a/src/ontology/metadata/omim-metrics.json +++ b/src/ontology/metadata/omim-metrics.json @@ -26,7 +26,7 @@ "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/2024-05-28/omim.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-06-01/omim.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/ordo-metrics.json b/src/ontology/metadata/ordo-metrics.json index 24f7de15..c51c5987 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/2024-05-28/ordo.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-06-01/ordo.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/mondo-ingest.Makefile b/src/ontology/mondo-ingest.Makefile index 3e20a434..cf56c515 100644 --- a/src/ontology/mondo-ingest.Makefile +++ b/src/ontology/mondo-ingest.Makefile @@ -189,8 +189,9 @@ $(TMPDIR)/component-%.json: $(COMPONENTSDIR)/%.owl $(ROBOT) convert -i $< -f json -o $@ .PRECIOUS: $(TMPDIR)/component-%.json -$(MAPPINGSDIR)/%.sssom.tsv: $(TMPDIR)/component-%.json metadata/mondo.sssom.config.yml - sssom parse $< -I obographs-json --prefix-map-mode merged -m metadata/mondo.sssom.config.yml -o $@ +$(MAPPINGSDIR)/%.sssom.tsv: + $(MAKE) $(TMPDIR)/component-$*.json metadata/mondo.sssom.config.yml + sssom parse $(TMPDIR)/component-$*.json -I obographs-json --prefix-map-mode merged -m metadata/mondo.sssom.config.yml -o $@ sssom sort $@ -o $@ $(MAPPINGSDIR)/ordo.sssom.tsv: $(TMPDIR)/component-ordo.json @@ -205,6 +206,9 @@ $(MAPPINGSDIR)/omim.sssom.tsv: $(TMPDIR)/component-omim.json sssom parse $< -I obographs-json --prefix-map-mode merged -m metadata/omim.metadata.sssom.yml -o $@ sssom sort $@ -o $@ +$(MAPPINGSDIR)/nando-mondo.sssom.tsv: + @echo "$@ is manually curated" + mappings: $(ALL_MAPPINGS) #################################### @@ -553,7 +557,9 @@ $(TMPDIR)/nord.tsv: wget "https://rdbdev.wpengine.com/wp-content/uploads/mondo-export/rare_export.tsv" -O $@ $(EXTERNAL_CONTENT_DIR)/%.robot.owl: $(EXTERNAL_CONTENT_DIR)/%.robot.tsv - $(ROBOT) template --template $< \ + $(ROBOT) template \ + --template $< \ + --prefix "orcid: https://orcid.org/" \ annotate \ --ontology-iri $(URIBASE)/mondo/external/nord.robot.owl \ --version-iri $(URIBASE)/mondo/external/$(TODAY)/nord.robot.owl \ @@ -563,12 +569,22 @@ $(EXTERNAL_CONTENT_DIR)/%.robot.owl: $(EXTERNAL_CONTENT_DIR)/%.robot.tsv $(EXTERNAL_CONTENT_DIR)/nord.robot.tsv: $(TMPDIR)/nord.tsv config/external-content-robot-headers.json mkdir -p $(EXTERNAL_CONTENT_DIR) python ../scripts/add-robot-template-header.py $^ > $@ -.PRECIOUS: $(EXTERNAL_CONTENT_DIR)/nord.robot.owl +.PRECIOUS: $(EXTERNAL_CONTENT_DIR)/nord.robot.tsv + +$(MAPPINGSDIR)/mondo-nando.sssom.tsv: $(MAPPINGSDIR)/nando-mondo.sssom.tsv + sssom invert $(MAPPINGSDIR)/nando-mondo.sssom.tsv --no-merge-inverted -o $@ + sssom annotate $@ --mapping_provider "MONDO:NANDO" -o $@ + +$(EXTERNAL_CONTENT_DIR)/nando-mappings.robot.tsv: $(MAPPINGSDIR)/mondo-nando.sssom.tsv + mkdir -p $(EXTERNAL_CONTENT_DIR) + python ../scripts/sssom_to_robot_template.py --inpath $< --outpath $@ +.PRECIOUS: $(EXTERNAL_CONTENT_DIR)/nando-mappings.robot.tsv -.PHONY: external-content-nord +.PHONY: external-content-nord external-content-nando external-content-nord: $(EXTERNAL_CONTENT_DIR)/nord.robot.owl +external-content-nando: $(EXTERNAL_CONTENT_DIR)/nando-mappings.robot.owl -update-externally-managed-content: external-content-nord +update-externally-managed-content: external-content-nord external-content-nando ############################# ######### Analysis ########## diff --git a/src/ontology/reports/component_signature-doid.tsv b/src/ontology/reports/component_signature-doid.tsv index ed610bf7..568a137c 100644 --- a/src/ontology/reports/component_signature-doid.tsv +++ b/src/ontology/reports/component_signature-doid.tsv @@ -1732,12 +1732,29 @@ + + + + + + + + + + + + + + + + + @@ -2262,6 +2279,12 @@ + + + + + + @@ -3645,6 +3668,8 @@ + + diff --git a/src/ontology/reports/doid.subclass.added.robot.tsv b/src/ontology/reports/doid.subclass.added.robot.tsv index 24ae501a..96d80726 100644 --- a/src/ontology/reports/doid.subclass.added.robot.tsv +++ b/src/ontology/reports/doid.subclass.added.robot.tsv @@ -150,7 +150,6 @@ MONDO:0001558 Potter sequence MONDO:0018470 DOID:12594 DOID:14766 renal agenesis MONDO:0001561 pyloric stenosis MONDO:0001561 DOID:12639 DOID:3122 pyloric stenosis MONDO:0001564 binocular vision disease MONDO:0003432 DOID:12667 DOID:540 strabismus MONDO:0001584 ocular motility disease MONDO:0005328 DOID:1279 DOID:5614 eye disorder -MONDO:0001606 central nervous system leukemia MONDO:0002714 DOID:12969 DOID:3620 central nervous system cancer 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 @@ -2495,6 +2494,7 @@ MONDO:0012921 type 1 diabetes mellitus 22 MONDO:0005147 DOID:0110759 DOID:9744 t MONDO:0012924 Diamond-Blackfan anemia 4 MONDO:0000426 DOID:0111890 DOID:0050736 autosomal dominant disease MONDO:0012925 Diamond-Blackfan anemia 5 MONDO:0000426 DOID:0111883 DOID:0050736 autosomal dominant disease MONDO:0012926 amelogenesis imperfecta hypomaturation type 2A2 MONDO:0006025 DOID:0110060 DOID:0050737 autosomal recessive disease +MONDO:0012927 chromosome 1q41-q42 deletion syndrome MONDO:0000429 DOID:0060412 DOID:0050739 autosomal genetic disease MONDO:0012928 hereditary spastic paraplegia 42 MONDO:0000426 DOID:0110794 DOID:0050736 autosomal dominant disease MONDO:0012929 Compton-North congenital myopathy MONDO:0006025 DOID:0080101 DOID:0050737 autosomal recessive disease MONDO:0012937 Diamond-Blackfan anemia 6 MONDO:0000426 DOID:0111879 DOID:0050736 autosomal dominant disease @@ -3172,6 +3172,8 @@ MONDO:0014650 familial temporal lobe epilepsy 8 MONDO:0000426 DOID:0060754 DOID: MONDO:0014651 acrofacial dysostosis Cincinnati type MONDO:0000426 DOID:0060353 DOID:0050736 autosomal dominant disease MONDO:0014652 exudative vitreoretinopathy 6 MONDO:0000426 DOID:0111410 DOID:0050736 autosomal dominant disease MONDO:0014653 retinitis pigmentosa 72 MONDO:0006025 DOID:0110395 DOID:0050737 autosomal recessive disease +MONDO:0014654 Ullrich congenital muscular dystrophy 2 MONDO:0000426 DOID:0060944 DOID:0050736 autosomal dominant disease +MONDO:0014654 Ullrich congenital muscular dystrophy 2 MONDO:0003441 DOID:0060944 DOID:543 dystonic disorder MONDO:0014656 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 MONDO:0006025 DOID:0111515 DOID:0050737 autosomal recessive disease MONDO:0014658 severe achondroplasia-developmental delay-acanthosis nigricans syndrome MONDO:0002254 DOID:0111158 DOID:225 syndromic disease MONDO:0014662 congenital insensitivity to pain-hypohidrosis syndrome MONDO:0006025 DOID:0070153 DOID:0050737 autosomal recessive disease diff --git a/src/ontology/reports/doid.subclass.confirmed.robot.tsv b/src/ontology/reports/doid.subclass.confirmed.robot.tsv index 4dcdd8d2..71da35f8 100644 --- a/src/ontology/reports/doid.subclass.confirmed.robot.tsv +++ b/src/ontology/reports/doid.subclass.confirmed.robot.tsv @@ -93,7 +93,6 @@ MONDO:0000408 fetal alcohol spectrum disorder MONDO:0000592 DOID:0050696 DOID:00 MONDO:0000411 electroclinical syndrome MONDO:0005027 DOID:0050701 DOID:1826 epilepsy MONDO:0000412 neonatal period electroclinical syndrome MONDO:0000411 DOID:0050702 DOID:0050701 electroclinical syndrome MONDO:0000413 infancy electroclinical syndrome MONDO:0000411 DOID:0050703 DOID:0050701 electroclinical syndrome -MONDO:0000417 early onset absence epilepsy MONDO:0000414 DOID:0050708 DOID:0050704 childhood electroclinical syndrome MONDO:0000424 inborn vitamin B12 deficiency MONDO:0005528 DOID:0050731 DOID:0050718 inborn vitamin metabolic disorder MONDO:0000426 autosomal dominant disease MONDO:0000429 DOID:0050736 DOID:0050739 autosomal genetic disease MONDO:0000430 mature T-cell and NK-cell non-Hodgkin lymphoma MONDO:0015760 DOID:0050743 DOID:0081312 T-cell non-Hodgkin lymphoma @@ -875,6 +874,7 @@ MONDO:0001601 Plasmodium ovale malaria MONDO:0005136 DOID:12919 DOID:12365 malar MONDO:0001602 labia minora carcinoma MONDO:0005215 DOID:1293 DOID:1294 vulvar carcinoma MONDO:0001603 paralytic lagophthalmos MONDO:0001604 DOID:12958 DOID:12959 lagophthalmos MONDO:0001604 lagophthalmos MONDO:0003382 DOID:12959 DOID:530 eyelid disorder +MONDO:0001606 central nervous system leukemia MONDO:0003641 DOID:12969 DOID:5772 central nervous system hematopoietic neoplasm MONDO:0001607 intrapelvic lymph node leukemic reticuloendotheliosis MONDO:0001082 DOID:12972 DOID:10619 lymph node cancer MONDO:0001609 agranulocytosis MONDO:0003785 DOID:12987 DOID:615 leukopenia MONDO:0001610 acute dacryocystitis MONDO:0004926 DOID:12996 DOID:9938 dacryocystitis @@ -1180,11 +1180,9 @@ MONDO:0001994 sphenoidal sinus cancer MONDO:0000380 DOID:14546 DOID:0050619 para MONDO:0001995 sphenoid sinus squamous cell carcinoma MONDO:0001994 DOID:14547 DOID:14546 sphenoidal sinus cancer MONDO:0001996 steroid-induced glaucoma - borderline MONDO:0004744 DOID:14548 DOID:9283 borderline glaucoma MONDO:0001997 root resorption MONDO:0001670 DOID:14550 DOID:13240 tooth resorption -MONDO:0001998 Foster-Kennedy syndrome MONDO:0002003 DOID:14555 DOID:146 papilledema MONDO:0001999 primary pulmonary hypertension MONDO:0001493 DOID:14557 DOID:12326 chronic pulmonary heart disease MONDO:0002000 anaerobic meningitis MONDO:0006670 DOID:14559 DOID:9470 bacterial meningitis MONDO:0002002 postsurgical hypothyroidism MONDO:0005420 DOID:1458 DOID:1459 hypothyroidism -MONDO:0002003 papilledema MONDO:0002135 DOID:146 DOID:1891 optic nerve disorder MONDO:0002004 atheroembolism of kidney MONDO:0005240 DOID:1460 DOID:557 kidney disorder MONDO:0002004 atheroembolism of kidney MONDO:0005568 DOID:1460 DOID:1461 cholesterol embolism MONDO:0002006 serous labyrinthitis MONDO:0002008 DOID:1467 DOID:1468 labyrinthitis @@ -1416,6 +1414,7 @@ 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 @@ -5215,6 +5214,7 @@ MONDO:0010818 retinitis pigmentosa 12 MONDO:0019200 DOID:0110358 DOID:10584 reti MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 MONDO:0017279 DOID:0060368 DOID:0060894 young-onset Parkinson disease MONDO:0010822 Warburg micro syndrome 1 MONDO:0016649 DOID:0110716 DOID:0060237 Warburg micro syndrome MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 MONDO:0015776 DOID:0110853 DOID:2580 rhizomelic chondrodysplasia punctata +MONDO:0010826 childhood absence epilepsy MONDO:0000414 DOID:0050708 DOID:0050704 childhood electroclinical syndrome MONDO:0010826 childhood absence epilepsy MONDO:0000414 DOID:1825 DOID:0050704 childhood electroclinical syndrome MONDO:0010827 retinitis pigmentosa 14 MONDO:0019200 DOID:0110381 DOID:10584 retinitis pigmentosa MONDO:0010828 retinitis pigmentosa 11 MONDO:0019200 DOID:0110408 DOID:10584 retinitis pigmentosa @@ -5888,6 +5888,7 @@ MONDO:0012918 primary ciliary dyskinesia 10 MONDO:0016575 DOID:0110612 DOID:9562 MONDO:0012923 congenital generalized lipodystrophy type 3 MONDO:0006536 DOID:0111137 DOID:0050585 congenital generalized lipodystrophy MONDO:0012924 Diamond-Blackfan anemia 4 MONDO:0015253 DOID:0111890 DOID:1339 Diamond-Blackfan anemia MONDO:0012925 Diamond-Blackfan anemia 5 MONDO:0015253 DOID:0111883 DOID:1339 Diamond-Blackfan anemia +MONDO:0012927 chromosome 1q41-q42 deletion syndrome MONDO:0016296 DOID:0060412 DOID:4621 holoprosencephaly MONDO:0012929 Compton-North congenital myopathy MONDO:0019952 DOID:0080101 DOID:0081337 congenital myopathy MONDO:0012937 Diamond-Blackfan anemia 6 MONDO:0015253 DOID:0111879 DOID:1339 Diamond-Blackfan anemia MONDO:0012938 Diamond-Blackfan anemia 7 MONDO:0015253 DOID:0111878 DOID:1339 Diamond-Blackfan anemia @@ -6564,7 +6565,6 @@ MONDO:0014650 familial temporal lobe epilepsy 8 MONDO:0005115 DOID:0060754 DOID: MONDO:0014651 acrofacial dysostosis Cincinnati type MONDO:0018237 DOID:0060353 DOID:0060379 acrofacial dysostosis MONDO:0014652 exudative vitreoretinopathy 6 MONDO:0019516 DOID:0111410 DOID:0050535 exudative vitreoretinopathy MONDO:0014653 retinitis pigmentosa 72 MONDO:0019200 DOID:0110395 DOID:10584 retinitis pigmentosa -MONDO:0014654 Ullrich congenital muscular dystrophy 2 MONDO:0000355 DOID:0060944 DOID:0050558 Ullrich congenital muscular dystrophy MONDO:0014657 primary ciliary dyskinesia 32 MONDO:0016575 DOID:0110603 DOID:9562 primary ciliary dyskinesia MONDO:0014658 severe achondroplasia-developmental delay-acanthosis nigricans syndrome MONDO:0000426 DOID:0111158 DOID:0050736 autosomal dominant disease MONDO:0014660 microcephaly 15, primary, autosomal recessive MONDO:0016660 DOID:0070277 DOID:0070296 autosomal recessive primary microcephaly diff --git a/src/ontology/reports/doid_mapping_status.tsv b/src/ontology/reports/doid_mapping_status.tsv index 8d63b74f..50b3ac5e 100644 --- a/src/ontology/reports/doid_mapping_status.tsv +++ b/src/ontology/reports/doid_mapping_status.tsv @@ -1,7 +1,33 @@ 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:0060948 Ullrich congenital muscular dystrophy 2 False False False +DOID:0060949 3-hydroxyisobutryl-CoA hydrolase deficiency False False False +DOID:0060950 hypervalinemia and hyperleucine-isoleucinemia False False False +DOID:0060951 polycystic kidney disease 6 False False False +DOID:0060952 polycystic kidney disease 7 False False False +DOID:0060953 ZTTK syndrome False False False +DOID:0060954 Holoprosencephaly 13, X-linked False False False +DOID:0060958 orofaciodigital syndrome XIV False False False +DOID:0060959 orofaciodigital syndrome II False False False +DOID:0060960 orofaciodigital syndrome XIX False False False +DOID:0060961 orofaciodigital syndrome XVIII False False False +DOID:0060962 orofaciodigital syndrome XX False False False +DOID:0060964 Loeys-Dietz syndrome 6 False False False +DOID:0060965 episodic ataxia type 9 False False False +DOID:0060968 hypotrichosis 15 False False False +DOID:0060969 galactosemia 4 False False False +DOID:0060970 Cornelia de Lange syndrome 6 False False False +DOID:0070540 mitochondrial short-chain enoyl-CoA hydratase 1 deficiency False False False +DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency False False False +DOID:0070542 neurodevelopmental disorder with spastic paraplegia and microcephaly False False False +DOID:0070543 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities False False False +DOID:0070544 congenital glutamine deficiency False False False +DOID:0070545 developmental and epileptic encephalopathy 116 False False False +DOID:0081453 Dent disease 1 False False False +DOID:0081454 Dent disease 2 False False False DOID:0111368 cholesterol-ester transfer protein deficiency False False False +DOID:146 papilledema False False False DOID:2536 chronic inflammatory demyelinating polyneuritis False False False DOID:2934 aleutian mink disease False False False DOID:4668 congenital kyphosis False False False @@ -4035,7 +4061,7 @@ DOID:0060940 dystonia 33 True False False DOID:0060941 interstitial lung disease 1 True False False DOID:0060942 Ullrich congenital muscular dystrophy 1B True False False DOID:0060943 Ullrich congenital muscular dystrophy 1C True False False -DOID:0060944 Ullrich congenital muscular dystrophy 2 True False False +DOID:0060944 episodic kinesigenic dyskinesia 3 True False False DOID:0060945 amelogenesis imperfecta type 1K True False False DOID:0060946 Ullrich congenital muscular dystrophy 1A True False False DOID:0060947 autosomal recessive intellectual developmental disorder 82 True False False @@ -5428,7 +5454,7 @@ DOID:0080913 cerebrooculofacioskeletal syndrome 3 True False False DOID:0080914 cerebrooculofacioskeletal syndrome 4 True False False DOID:0080915 histiocytic sarcoma True False False DOID:0080916 erythroleukemia True False False -DOID:0080917 sporatic amyotrophic lateral sclerosis True False False +DOID:0080917 sporadic amyotrophic lateral sclerosis True False False DOID:0080918 polymicrogyria True False False DOID:0080919 unilateral focal polymicrogyria True False False DOID:0080920 bilateral generalized polymicrogyria True False False @@ -10009,7 +10035,6 @@ DOID:1456 glossitis True False False DOID:14566 disease of cellular proliferation True False False DOID:1458 postsurgical hypothyroidism True False False DOID:1459 hypothyroidism True False False -DOID:146 papilledema True False False DOID:1460 atheroembolism of kidney True False False DOID:1461 cholesterol embolism True False False DOID:14654 prostatitis True False False diff --git a/src/ontology/reports/doid_unmapped_terms.tsv b/src/ontology/reports/doid_unmapped_terms.tsv index 8fef67d4..49ee6967 100644 --- a/src/ontology/reports/doid_unmapped_terms.tsv +++ b/src/ontology/reports/doid_unmapped_terms.tsv @@ -1,9 +1,35 @@ subject_id subject_label +DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency +DOID:0060949 3-hydroxyisobutryl-CoA hydrolase deficiency +DOID:0060970 Cornelia de Lange syndrome 6 +DOID:0081453 Dent disease 1 +DOID:0081454 Dent disease 2 +DOID:0060954 Holoprosencephaly 13, X-linked +DOID:0060964 Loeys-Dietz syndrome 6 +DOID:0060948 Ullrich congenital muscular dystrophy 2 +DOID:0060953 ZTTK syndrome DOID:2934 aleutian mink disease DOID:5154 borna disease DOID:0060160 childhood spinal muscular atrophy DOID:0111368 cholesterol-ester transfer protein deficiency DOID:2536 chronic inflammatory demyelinating polyneuritis +DOID:0070544 congenital glutamine deficiency DOID:4668 congenital kyphosis +DOID:0070545 developmental and epileptic encephalopathy 116 +DOID:0060965 episodic ataxia type 9 +DOID:0060969 galactosemia 4 +DOID:0060950 hypervalinemia and hyperleucine-isoleucinemia +DOID:0060968 hypotrichosis 15 DOID:0060333 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 +DOID:0070540 mitochondrial short-chain enoyl-CoA hydratase 1 deficiency +DOID:0070543 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities +DOID:0070542 neurodevelopmental disorder with spastic paraplegia and microcephaly +DOID:0060959 orofaciodigital syndrome II +DOID:0060958 orofaciodigital syndrome XIV +DOID:0060960 orofaciodigital syndrome XIX +DOID:0060961 orofaciodigital syndrome XVIII +DOID:0060962 orofaciodigital syndrome XX +DOID:146 papilledema +DOID:0060951 polycystic kidney disease 6 +DOID:0060952 polycystic kidney disease 7 DOID:9373 postural kyphosis diff --git a/src/ontology/reports/mirror_signature-doid.tsv b/src/ontology/reports/mirror_signature-doid.tsv index 806f3c5b..16921376 100644 --- a/src/ontology/reports/mirror_signature-doid.tsv +++ b/src/ontology/reports/mirror_signature-doid.tsv @@ -67,6 +67,7 @@ + @@ -377,6 +378,7 @@ + @@ -2472,12 +2474,29 @@ + + + + + + + + + + + + + + + + + @@ -3018,6 +3037,12 @@ + + + + + + @@ -4424,6 +4449,8 @@ + + @@ -14630,7 +14657,6 @@ - @@ -14656,11 +14682,9 @@ - - @@ -14680,6 +14704,9 @@ + + + @@ -16624,6 +16651,11 @@ + + + + + @@ -18208,7 +18240,6 @@ - diff --git a/src/ontology/reports/ncit_excluded_terms_in_mondo_xrefs.tsv b/src/ontology/reports/ncit_excluded_terms_in_mondo_xrefs.tsv index ae4f932f..67608aa0 100644 --- a/src/ontology/reports/ncit_excluded_terms_in_mondo_xrefs.tsv +++ b/src/ontology/reports/ncit_excluded_terms_in_mondo_xrefs.tsv @@ -1036,7 +1036,6 @@ NCIT:C93045 Paralytic Ileus True False True True NCIT:C84995 Paragonimiasis True False True True NCIT:C34891 Paracoccidioidomycosis True False True True NCIT:C84992 Papillon-Lefevre Syndrome True False True True -NCIT:C3307 Papilledema True False True True NCIT:C27879 Papillary Urothelial Hyperplasia True False True True NCIT:C35616 Papillary Conjunctivitis True False True True NCIT:C84989 Panuveitis True False True True diff --git a/src/ontology/reports/ncit_excluded_terms_in_mondo_xrefs_summary.tsv b/src/ontology/reports/ncit_excluded_terms_in_mondo_xrefs_summary.tsv index 6943bf7b..cbc2ffa7 100644 --- a/src/ontology/reports/ncit_excluded_terms_in_mondo_xrefs_summary.tsv +++ b/src/ontology/reports/ncit_excluded_terms_in_mondo_xrefs_summary.tsv @@ -1,2 +1,2 @@ n_in1_notIn2_in3 pct_in1_notIn2_in3__over_in1 -3479 0.0187 +3478 0.0187 diff --git a/src/ontology/reports/ncit_mapping_status.tsv b/src/ontology/reports/ncit_mapping_status.tsv index c18be74b..11f9c4b8 100644 --- a/src/ontology/reports/ncit_mapping_status.tsv +++ b/src/ontology/reports/ncit_mapping_status.tsv @@ -126241,6 +126241,7 @@ NCIT:C33066 Medial Lenticulostriate Artery False True False NCIT:C33067 Medial Orbitofrontal Artery False True False NCIT:C33068 Medial Rectus Muscle False True False NCIT:C33069 Medial Vestibular Nucleus False True False +NCIT:C3307 Papilledema False True False NCIT:C33070 Median Basilic Vein False True False NCIT:C33071 Median Cephalic Vein False True False NCIT:C33072 Median Vein False True False @@ -189207,7 +189208,6 @@ NCIT:C3293 Osteoarthritis True True False NCIT:C3298 Osteoporosis True True False NCIT:C3299 Infectious Otitis Externa True True False NCIT:C3306 Pancreatitis True True False -NCIT:C3307 Papilledema True True False NCIT:C3311 Paraneoplastic Syndrome True True False NCIT:C3312 Parapsoriasis True True False NCIT:C3318 Peptic Ulcer True True False diff --git a/src/ontology/reports/omim.subclass.confirmed.robot.tsv b/src/ontology/reports/omim.subclass.confirmed.robot.tsv index 124e41a6..5c624975 100644 --- a/src/ontology/reports/omim.subclass.confirmed.robot.tsv +++ b/src/ontology/reports/omim.subclass.confirmed.robot.tsv @@ -3516,6 +3516,7 @@ MONDO:0800047 macrothrombocytopenia, isolated, 1, autosomal dominant MONDO:00314 MONDO:0800104 immunodeficiency 105 MONDO:0031520 OMIM:619924 OMIMPS:601457 familial severe combined immunodeficiency MONDO:0800131 hyper-IgE recurrent infection syndrome 4A, autosomal dominant MONDO:0018037 OMIM:619752 OMIMPS:147060 hyper-IgE syndrome MONDO:0800167 Knobloch syndrome 1 MONDO:0800166 OMIM:267750 OMIMPS:267750 Knobloch syndrome +MONDO:0800306 myoclonic epilepsy of Lafora 2 MONDO:0009697 OMIM:620681 OMIMPS:254780 Lafora disease MONDO:0800341 congenital myopathy 4A, autosomal dominant MONDO:0019952 OMIM:255310 OMIMPS:117000 congenital myopathy MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 MONDO:0031329 OMIM:213980 OMIMPS:213980 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome MONDO:0800437 Carey-Fineman-Ziter syndrome 1 MONDO:0031415 OMIM:254940 OMIMPS:254940 Carey-Fineman-Ziter syndrome @@ -3746,7 +3747,6 @@ MONDO:0958196 epilepsy, early-onset, 3, with or without developmental delay MOND MONDO:0958197 Leber-like hereditary optic neuropathy, autosomal recessive 2 MONDO:0030309 OMIM:620569 OMIMPS:619382 Leber hereditary optic neuropathy, autosomal recessive MONDO:0958199 myoclonic epilepsy of Lafora 1 MONDO:0009697 OMIM:254780 OMIMPS:254780 Lafora disease MONDO:0958200 intellectual developmental disorder, x-linked 113 MONDO:0019181 OMIM:301116 OMIMPS:309530 non-syndromic X-linked intellectual disability -MONDO:0958201 myoclonic epilepsy of Lafora 2 MONDO:0009697 OMIM:620681 OMIMPS:254780 Lafora disease MONDO:0958202 moyamoya disease 7 MONDO:0016820 OMIM:620687 OMIMPS:252350 Moyamoya disease MONDO:0958203 intellectual developmental disorder, autosomal dominant 74 MONDO:0100172 OMIM:620688 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0958204 intellectual developmental disorder, autosomal recessive 81 MONDO:0019502 OMIM:620700 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability diff --git a/src/ontology/reports/omim_mapping_status.tsv b/src/ontology/reports/omim_mapping_status.tsv index eb6f2a4d..ecc99041 100644 --- a/src/ontology/reports/omim_mapping_status.tsv +++ b/src/ontology/reports/omim_mapping_status.tsv @@ -2393,6 +2393,7 @@ OMIM:142994 MNX1 False True False OMIM:142995 HLX False True False OMIM:142996 EVX1 False True False OMIM:143010 HLA-E False True False +OMIM:143020 hpa 1 recognition polymorphism, beta-globin-related False True False OMIM:143023 RASSF7 False True False OMIM:143024 GNL1 False True False OMIM:143025 HRES1 False True False @@ -27998,7 +27999,6 @@ OMIM:142625 hirsutism, skeletal dysplasia, and impaired intellectual development OMIM:142630 histiocytosis, progressive mucinous True True False OMIM:142730 histiocytic dermatoarthritis True True False OMIM:142770 hla modifier True True False -OMIM:143020 hpa 1 recognition polymorphism, beta-globin-related True True False OMIM:143050 humeroradial synostosis True True False OMIM:143460 5-hydroxytryptamine oxygenase regulator True True False OMIM:144020 hypercholesterolemia suppressor True True False 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 dc0ac3ea..3116280e 100644 --- a/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv +++ b/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv @@ -126,8 +126,6 @@ MONDO:0000412 MONDO:0000411 True neonatal period electroclinical syndrome electr MONDO:0000413 MONDO:0000411 True infancy electroclinical syndrome electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000414 MONDO:0000411 True childhood electroclinical syndrome electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000415 MONDO:0000411 True adolescence-adult electroclinical syndrome electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000417 MONDO:0000414 True early onset absence epilepsy childhood electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0000417 MONDO:0850093 True early onset absence epilepsy absence epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000424 MONDO:0005528 True inborn vitamin B12 deficiency inborn vitamin metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000425 MONDO:0003847 True X-linked disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000426 MONDO:0000429 True autosomal dominant disease autosomal genetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -1079,7 +1077,7 @@ MONDO:0001602 MONDO:0001526 True labia minora carcinoma labia minora cancer UNSU MONDO:0001602 MONDO:0005215 True labia minora carcinoma vulvar carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001603 MONDO:0001604 True paralytic lagophthalmos lagophthalmos UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001604 MONDO:0003382 True lagophthalmos eyelid disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001606 MONDO:0003641 True central nervous system leukemia central nervous system hematopoietic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001606 MONDO:0003641 True central nervous system leukemia central nervous system hematopoietic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001606 MONDO:0005059 True central nervous system leukemia leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001607 MONDO:0001082 True intrapelvic lymph node leukemic reticuloendotheliosis lymph node cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001608 MONDO:0001535 True vagus nerve neoplasm vagus nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -1444,11 +1442,9 @@ MONDO:0001995 MONDO:0001994 True sphenoid sinus squamous cell carcinoma sphenoid MONDO:0001995 MONDO:0044705 True sphenoid sinus squamous cell carcinoma paranasal sinus squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001996 MONDO:0004744 True steroid-induced glaucoma - borderline borderline glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001997 MONDO:0001670 True root resorption tooth resorption UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001998 MONDO:0002003 True Foster-Kennedy syndrome papilledema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001999 MONDO:0001493 True primary pulmonary hypertension chronic pulmonary heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002000 MONDO:0006670 True anaerobic meningitis bacterial meningitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002002 MONDO:0005420 True postsurgical hypothyroidism hypothyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0002003 MONDO:0002135 True papilledema optic nerve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002004 MONDO:0005240 True atheroembolism of kidney kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002004 MONDO:0005568 True atheroembolism of kidney cholesterol embolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0002006 MONDO:0002008 True serous labyrinthitis labyrinthitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -1802,6 +1798,7 @@ 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 @@ -10878,7 +10875,7 @@ MONDO:0012922 MONDO:0100239 True pyloric stenosis, infantile hypertrophic, 5 inh MONDO:0012923 MONDO:0006536 True congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012924 MONDO:0015253 True Diamond-Blackfan anemia 4 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012925 MONDO:0015253 True Diamond-Blackfan anemia 5 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012927 MONDO:0016296 True chromosome 1q41-q42 deletion syndrome holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0012927 MONDO:0016296 True chromosome 1q41-q42 deletion syndrome holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012927 MONDO:0022756 True chromosome 1q41-q42 deletion syndrome chromosome 1q deletion UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012928 MONDO:0015149 True hereditary spastic paraplegia 42 pure hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012929 MONDO:0019952 True Compton-North congenital myopathy congenital myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED @@ -12334,7 +12331,7 @@ MONDO:0014650 MONDO:0005115 True familial temporal lobe epilepsy 8 temporal lobe MONDO:0014651 MONDO:0018237 True acrofacial dysostosis Cincinnati type acrofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0014652 MONDO:0019516 True exudative vitreoretinopathy 6 exudative vitreoretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014653 MONDO:0019200 True retinitis pigmentosa 72 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014654 MONDO:0000355 True Ullrich congenital muscular dystrophy 2 Ullrich congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014654 MONDO:0000355 True Ullrich congenital muscular dystrophy 2 Ullrich congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0014656 MONDO:0000090 True progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 progressive external ophthalmoplegia with mitochondrial DNA deletions UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014657 MONDO:0016575 True primary ciliary dyskinesia 32 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014658 MONDO:0000426 True severe achondroplasia-developmental delay-acanthosis nigricans syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -18343,6 +18340,7 @@ MONDO:0800047 MONDO:0031447 True macrothrombocytopenia, isolated, 1, autosomal d MONDO:0800104 MONDO:0031520 True immunodeficiency 105 familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0800131 MONDO:0018037 True hyper-IgE recurrent infection syndrome 4A, autosomal dominant hyper-IgE syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0800167 MONDO:0800166 True Knobloch syndrome 1 Knobloch syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0800306 MONDO:0009697 True myoclonic epilepsy of Lafora 2 Lafora disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0800341 MONDO:0019952 True congenital myopathy 4A, autosomal dominant congenital myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0800366 MONDO:0015780 True dyskeratosis congenita, autosomal dominant 4 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0800372 MONDO:0018772 True Joubert syndrome 29 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -18354,6 +18352,7 @@ MONDO:0800448 MONDO:0019046 True leukoencephalopathy with vanishing white matter MONDO:0800449 MONDO:0015905 True lysosomal acid lipase deficiency syndromic dyslipidemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800449 MONDO:0019245 True lysosomal acid lipase deficiency lysosomal lipid storage disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0800452 MONDO:0800451 True congenital amegakaryocytic thrombocytopenia 1 congenital amegakaryocytic thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0800453 MONDO:0850093 True juvenile absence epilepsy absence epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0800455 MONDO:0800444 True Birt-Hogg-Dube syndrome 2 Birt-Hogg-Dube syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0850001 MONDO:0016295 True congenital neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850053 MONDO:0019751 True F12-associated cold autoinflammatory syndrome autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -18850,7 +18849,6 @@ MONDO:0958196 MONDO:0957599 True epilepsy, early-onset, 3, with or without devel MONDO:0958197 MONDO:0030309 True Leber-like hereditary optic neuropathy, autosomal recessive 2 Leber hereditary optic neuropathy, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0958199 MONDO:0009697 True myoclonic epilepsy of Lafora 1 Lafora disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0958200 MONDO:0019181 True intellectual developmental disorder, x-linked 113 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0958201 MONDO:0009697 True myoclonic epilepsy of Lafora 2 Lafora disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0958202 MONDO:0016820 True moyamoya disease 7 Moyamoya disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0958203 MONDO:0100172 True intellectual developmental disorder, autosomal dominant 74 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0958204 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 81 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -19715,6 +19713,7 @@ MONDO:0001982 MONDO:0015531 False Niemann-Pick disease non-Langerhans cell histi MONDO:0001987 MONDO:0005559 False senile degeneration of brain neurodegenerative disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001992 MONDO:0005447 False rete testis adenocarcinoma testicular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001993 MONDO:0005447 False seminal vesicle adenocarcinoma testicular cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0001998 MONDO:0005328 False Foster-Kennedy syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0002000 MONDO:0024389 False anaerobic meningitis anaerobic bacteria infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002008 MONDO:0021166 False labyrinthitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0002013 MONDO:0036976 False lymphangioma benign epithelial neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -19821,7 +19820,6 @@ 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 @@ -22301,7 +22299,6 @@ MONDO:0007730 MONDO:0003847 False histiocytic dermatoarthritis hereditary diseas MONDO:0007732 MONDO:0019713 False Holt-Oram syndrome non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007732 MONDO:0100547 False Holt-Oram syndrome cardiogenetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007735 MONDO:0001294 False congenital Horner syndrome Horner syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007736 MONDO:0003847 False HPA 1 Recognition polymorphism, beta-globin-related hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007737 MONDO:0003847 False humeroradial synostosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007738 MONDO:0000226 False spondyloepiphyseal dysplasia with congenital joint dislocations mineral metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007739 MONDO:0000167 False Huntington disease Huntington disease and related disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26102,8 +26099,8 @@ MONDO:0012907 MONDO:0005328 False blindness - scoliosis - arachnodactyly syndrom MONDO:0012908 MONDO:0000015 False complement component 6 deficiency classic complement early component deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012908 MONDO:0015700 False complement component 6 deficiency immunodeficiency due to a late component of complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012909 MONDO:0003847 False skeletal defects, genital hypoplasia, and intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012910 MONDO:0005562 False age-related hearing impairment 1 age-related hearing impairment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012910 MONDO:0037940 False age-related hearing impairment 1 inherited auditory system disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012910 MONDO:0043765 False age-related hearing impairment 1 presbycusis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012910 MONDO:0100545 False age-related hearing impairment 1 hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012911 MONDO:0018379 False pseudohypoparathyroidism type 1C primary avascular necrosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012911 MONDO:0018383 False pseudohypoparathyroidism type 1C osteonecrosis of genetic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26185,8 +26182,8 @@ MONDO:0013059 MONDO:0700260 False Aicardi-Goutieres syndrome 5 SAMHD1-related ty MONDO:0013063 MONDO:0100234 False ventricular fibrillation, paroxysmal familial, 2 paroxysmal familial ventricular fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013063 MONDO:0100547 False ventricular fibrillation, paroxysmal familial, 2 cardiogenetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013066 MONDO:0016674 False 46,XY sex reversal 3 46,XY partial gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013068 MONDO:0005562 False age-related hearing impairment 2 age-related hearing impairment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013068 MONDO:0037940 False age-related hearing impairment 2 inherited auditory system disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013068 MONDO:0043765 False age-related hearing impairment 2 presbycusis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013068 MONDO:0100545 False age-related hearing impairment 2 hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013071 MONDO:0020336 False Emery-Dreifuss muscular dystrophy 4, autosomal dominant autosomal dominant Emery-Dreifuss muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013072 MONDO:0020336 False Emery-Dreifuss muscular dystrophy 5, autosomal dominant autosomal dominant Emery-Dreifuss muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32283,7 +32280,7 @@ MONDO:0043735 MONDO:0043459 False osteoradionecrosis radiation-induced disorder MONDO:0043759 MONDO:0000755 False abdominal ectopic pregnancy ectopic pregnancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043762 MONDO:0000755 False tubal pregnancy ectopic pregnancy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043762 MONDO:0002156 False tubal pregnancy fallopian tube disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0043765 MONDO:0005365 False presbycusis hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0043765 MONDO:0020678 False presbycusis sensorineural hearing loss disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043768 MONDO:0002049 False thrombocytopenic purpura thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043768 MONDO:0002610 False thrombocytopenic purpura purpura UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0043768 MONDO:0005046 False thrombocytopenic purpura immune system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS 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 9a34e2aa..bb0cc495 100644 --- a/src/ontology/slurp/doid.tsv +++ b/src/ontology/slurp/doid.tsv @@ -8,3 +8,29 @@ MONDO:0958359 childhood spinal muscular atrophy DOID:0060160 MONDO:equivalentTo MONDO:0958360 cholesterol-ester transfer protein deficiency DOID:0111368 MONDO:equivalentTo cholesterol-ester transfer protein deficiency MONDO:0002525 MONDO:0968993 aleutian mink disease DOID:2934 MONDO:equivalentTo aleutian mink disease MONDO:0005108 MONDO:0968994 borna disease DOID:5154 MONDO:equivalentTo borna disease MONDO:0005108|MONDO:0002602 +MONDO:0970966 ullrich congenital muscular dystrophy 2 DOID:0060948 MONDO:equivalentTo Ullrich congenital muscular dystrophy 2 MONDO:0000355 +MONDO:0970967 3-hydroxyisobutryl-coa hydrolase deficiency DOID:0060949 MONDO:equivalentTo 3-hydroxyisobutryl-CoA hydrolase deficiency MONDO:0006025|MONDO:0004736 +MONDO:0970968 hypervalinemia and hyperleucine-isoleucinemia DOID:0060950 MONDO:equivalentTo hypervalinemia and hyperleucine-isoleucinemia An amino acid metabolic characterized by highly elevated plasma valine and leucine concentrations that has_material_basis_in compound heterozygous mutation in the BCAT2 gene on chromosome 19q13. MONDO:0004736|MONDO:0006025 +MONDO:0970969 polycystic kidney disease 6 DOID:0060951 MONDO:equivalentTo polycystic kidney disease 6 An autosomal dominant polycystic kidney disease characterized by the development of multiple small renal cysts and progression to renal insufficiency or end-stage renal disease (ESRD) most often after the sixth decade that has_material_basis_in heterozygous mutation in the DNAJB11 gene on chromosome 3q27. MONDO:0004691 +MONDO:0970970 polycystic kidney disease 7 DOID:0060952 MONDO:equivalentTo polycystic kidney disease 7 A autosomal dominant polycystic kidney disease characterized by the development of small kidney cysts and renal interstitial fibrosis causing adult-onset progressive loss of kidney function leading to end-stage kidney disease after around 60 years of age that has_material_basis_in heterozygous mutation in the ALG5 gene on chromosome 13q13. MONDO:0004691 +MONDO:0970971 zttk syndrome DOID:0060953 MONDO:equivalentTo ZTTK syndrome MONDO:0000426|MONDO:0002254 +MONDO:0970972 holoprosencephaly 13, x-linked DOID:0060954 MONDO:equivalentTo Holoprosencephaly 13, X-linked MONDO:0016296|MONDO:0020605|MONDO:0020604 +MONDO:0970973 orofaciodigital syndrome xiv DOID:0060958 MONDO:equivalentTo orofaciodigital syndrome XIV MONDO:0015375|MONDO:0006025 +MONDO:0970974 orofaciodigital syndrome ii DOID:0060959 MONDO:equivalentTo orofaciodigital syndrome II MONDO:0015375|MONDO:0006025 +MONDO:0970975 orofaciodigital syndrome xix DOID:0060960 MONDO:equivalentTo orofaciodigital syndrome XIX MONDO:0015375|MONDO:0006025 +MONDO:0970976 orofaciodigital syndrome xviii DOID:0060961 MONDO:equivalentTo orofaciodigital syndrome XVIII MONDO:0015375|MONDO:0006025 +MONDO:0970977 orofaciodigital syndrome xx DOID:0060962 MONDO:equivalentTo orofaciodigital syndrome XX MONDO:0015375|MONDO:0006025 +MONDO:0970978 loeys-dietz syndrome 6 DOID:0060964 MONDO:equivalentTo Loeys-Dietz syndrome 6 MONDO:0018954 +MONDO:0970979 episodic ataxia type 9 DOID:0060965 MONDO:equivalentTo episodic ataxia type 9 MONDO:0016227|MONDO:0000426 +MONDO:0970980 hypotrichosis 15 DOID:0060968 MONDO:equivalentTo hypotrichosis 15 MONDO:0003037|MONDO:0006025 +MONDO:0970981 galactosemia 4 DOID:0060969 MONDO:equivalentTo galactosemia 4 MONDO:0018116 +MONDO:0970982 cornelia de lange syndrome 6 DOID:0060970 MONDO:equivalentTo Cornelia de Lange syndrome 6 MONDO:0016033|MONDO:0000426 +MONDO:0970983 mitochondrial short-chain enoyl-coa hydratase 1 deficiency DOID:0070540 MONDO:equivalentTo mitochondrial short-chain enoyl-CoA hydratase 1 deficiency MONDO:0004736|MONDO:0002525|MONDO:0004069|MONDO:0006025 +MONDO:0970984 3-hydroxy-3-methylglutaryl-coa lyase deficiency DOID:0070541 MONDO:equivalentTo 3-hydroxy-3-methylglutaryl-CoA lyase deficiency MONDO:0004736|MONDO:0006025 +MONDO:0970985 neurodevelopmental disorder with spastic paraplegia and microcephaly DOID:0070542 MONDO:equivalentTo neurodevelopmental disorder with spastic paraplegia and microcephaly MONDO:0019502|MONDO:0004736 +MONDO:0970986 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities DOID:0070543 MONDO:equivalentTo neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities MONDO:0004736|MONDO:0004069|MONDO:0006025 +MONDO:0970987 congenital glutamine deficiency DOID:0070544 MONDO:equivalentTo congenital glutamine deficiency MONDO:0004736|MONDO:0006025 +MONDO:0970988 developmental and epileptic encephalopathy 116 DOID:0070545 MONDO:equivalentTo developmental and epileptic encephalopathy 116 MONDO:0004736|MONDO:0100062|MONDO:0000426 +MONDO:0970989 dent disease 1 DOID:0081453 MONDO:equivalentTo Dent disease 1 A Dent disease that is characterized by manifestations of complex proximal tubule dysfunction with low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure and that has_material_basis_in mutation in the CLCN5 gene on chromosome Xp11. Extra-renal involvement is absent. MONDO:0015612 +MONDO:0970990 dent disease 2 DOID:0081454 MONDO:equivalentTo Dent disease 2 A Dent disease that is characterized by low molecular weight proteinuria and other features of Fanconi syndrome but typically do not include proximal renal tubular acidosis and that has_material_basis_in mutation in the OCRL gene on chromosome Xq26. MONDO:0015612 +MONDO:0970991 papilledema DOID:146 MONDO:equivalentTo papilledema MONDO:0002135 diff --git a/src/ontology/slurp/ncit.tsv b/src/ontology/slurp/ncit.tsv index 261472b8..3307640f 100644 --- a/src/ontology/slurp/ncit.tsv +++ b/src/ontology/slurp/ncit.tsv @@ -870,7 +870,7 @@ 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:0044743|MONDO:0021244 +MONDO:0856716 malignant submandibular gland neoplasm NCIT:C3526 MONDO:equivalentTo Malignant Submandibular Gland Neoplasm MONDO:0021244|MONDO:0044743 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/unmapped/doid-unmapped.owl b/src/ontology/unmapped/doid-unmapped.owl index 950e2704..3027ff72 100644 --- a/src/ontology/unmapped/doid-unmapped.owl +++ b/src/ontology/unmapped/doid-unmapped.owl @@ -33,12 +33,168 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + diff --git a/src/scripts/sssom_to_robot_template.py b/src/scripts/sssom_to_robot_template.py new file mode 100644 index 00000000..8a0fd622 --- /dev/null +++ b/src/scripts/sssom_to_robot_template.py @@ -0,0 +1,57 @@ +"""Convert SSSOM to ROBOT template.""" +from argparse import ArgumentParser +from pathlib import Path +from typing import Dict, Union + +import pandas as pd +from sssom import MappingSetDataFrame +from sssom.parsers import parse_sssom_table + +ROBOT_ROW = { + 'subject_id': 'ID', + 'subject_label': '', + 'object_id': 'A oboInOwl:hasDbXref', + 'equivalence': '>A oboInOwl:source', + 'author_id': '>AI oboInOwl:source SPLIT=|', + 'mapping_provider': '>A oboInOwl:source', + 'object_label': '', +} +PRED_MAP = { + 'skos:relatedMatch': 'MONDO:relatedTo', + 'skos:exactMatch': 'MONDO:equivalentTo', + 'skos:broadMatch': 'MONDO:mondoIsNarrowerThanSource', +} + + +def sssom_to_robot_template(inpath: Union[str, Path], outpath: Union[str, Path]): + """Convert SSSOM to ROBOT template.""" + msdf: MappingSetDataFrame = parse_sssom_table(inpath) + df: pd.DataFrame = msdf.df + + # Conversion + df['equivalence'] = df['predicate_id'].map(lambda pred: PRED_MAP.get(pred, '')) + df = df[['subject_id', 'subject_label', 'object_id', 'equivalence', 'object_label']]\ + .sort_values(['subject_id', 'object_id']) + df['author_id'] = '|'.join(msdf.metadata['creator_id']) + df['mapping_provider'] = msdf.metadata['mapping_provider'] + df = pd.concat([pd.DataFrame([ROBOT_ROW]), df]) + + # Write + df.to_csv(outpath, sep='\t', index=False) + + +def cli(): + """Command line interface""" + parser = ArgumentParser( + prog='sssom-to-robot-template', + description='Convert SSSOM to ROBOT template.') + parser.add_argument( + '-i', '--inpath', required=True, help='Path to input SSSOM TSV.') + parser.add_argument( + '-o', '--outpath', required=True, help='Path to output ROBOT template TSV.') + d: Dict = vars(parser.parse_args()) + sssom_to_robot_template(**d) + + +if __name__ == '__main__': + cli() \ No newline at end of file