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Add preaxial polydactyly II
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@csbjohnson
csbjohnson committed Sep 5, 2024
1 parent 2d57c2c commit 25ff0f3
Showing 1 changed file with 14 additions and 1 deletion.
15 changes: 14 additions & 1 deletion src/ontology/doid-edit.owl
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Original file line number Diff line number Diff line change
Expand Up @@ -1962,6 +1962,7 @@ Declaration(Class(obo:DOID_0060982))
Declaration(Class(obo:DOID_0060983))
Declaration(Class(obo:DOID_0060984))
Declaration(Class(obo:DOID_0060985))
Declaration(Class(obo:DOID_0060986))
Declaration(Class(obo:DOID_0070000))
Declaration(Class(obo:DOID_0070001))
Declaration(Class(obo:DOID_0070002))
Expand Down Expand Up @@ -41583,6 +41584,19 @@ AnnotationAssertion(rdfs:label obo:DOID_0060985 "preaxial polydactyly type IV"@e
SubClassOf(obo:DOID_0060985 obo:DOID_1148)
SubClassOf(obo:DOID_0060985 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))

# Class: obo:DOID_0060986 (preaxial polydactyly II)

AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/8012392/") obo:IAO_0000115 obo:DOID_0060986 "A polydactyly characterized by the presence of 3 phalanges within the thumb that has_material_basis_in heterozygous mutation in the ZRS, a regulatory element of SHH, on chromosome 7q36.")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060986 "GARD:5289")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060986 "MIM:174500")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060986 "ORDO:93336")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060986 "polydactyly of a triphalangeal thumb")
AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0060986 "disease_ontology")
AnnotationAssertion(oboInOwl:id obo:DOID_0060986 "DOID:0060986")
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_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)
Expand Down Expand Up @@ -113306,7 +113320,6 @@ AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_1148 "ICD9CM:755.0")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_1148 "MESH:C562429")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_1148 "MESH:D017689")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_1148 "MIM:174200")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_1148 "MIM:174500")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_1148 "MIM:174700")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_1148 "MIM:603596")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_1148 "NCI:C87110")
Expand Down

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#1375

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