diff --git a/src/ontology/doid-edit.owl b/src/ontology/doid-edit.owl index 94d9973a..f47e907a 100644 --- a/src/ontology/doid-edit.owl +++ b/src/ontology/doid-edit.owl @@ -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)) @@ -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)