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Add preaxial polydactyly I
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@csbjohnson
csbjohnson committed Sep 6, 2024
1 parent 25ff0f3 commit 063fbe9
Showing 1 changed file with 13 additions and 0 deletions.
13 changes: 13 additions & 0 deletions src/ontology/doid-edit.owl
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Original file line number Diff line number Diff line change
Expand Up @@ -1963,6 +1963,7 @@ Declaration(Class(obo:DOID_0060983))
Declaration(Class(obo:DOID_0060984))
Declaration(Class(obo:DOID_0060985))
Declaration(Class(obo:DOID_0060986))
Declaration(Class(obo:DOID_0060987))
Declaration(Class(obo:DOID_0070000))
Declaration(Class(obo:DOID_0070001))
Declaration(Class(obo:DOID_0070002))
Expand Down Expand Up @@ -41597,6 +41598,18 @@ AnnotationAssertion(rdfs:label obo:DOID_0060986 "preaxial polydactyly II"@en)
SubClassOf(obo:DOID_0060986 obo:DOID_1148)
SubClassOf(obo:DOID_0060986 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))

# Class: obo:DOID_0060987 (preaxial polydactyly I)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/15405667/") obo:IAO_0000115 obo:DOID_0060987 "A polydactyly characterized by the duplication of one or more skeletal components of a biphalangeal thumb and/or hallux that has_material_basis_in homozygous mutation in the GLI1 gene (165220) on chromosome 12q13."@en)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060987 "GARD:4417")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060987 "MIM:174400")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060987 "ORDO:93339")
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0060987 "disease_ontology")
AnnotationAssertion(oboInOwl:id obo:DOID_0060987 "DOID:0060987")
AnnotationAssertion(rdfs:label obo:DOID_0060987 "preaxial polydactyly I"@en)
SubClassOf(obo:DOID_0060987 obo:DOID_1148)
SubClassOf(obo:DOID_0060987 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))

# Class: obo:DOID_0070000 (3-methylglutaconic aciduria type 8)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27208207") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/27696117") obo:IAO_0000115 obo:DOID_0070000 "A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the HTRA2 gene on chromosome 2p13."@en)
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#1375

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