diff --git a/src/ontology/doid-edit.owl b/src/ontology/doid-edit.owl index b19715a75..1137f1181 100644 --- a/src/ontology/doid-edit.owl +++ b/src/ontology/doid-edit.owl @@ -41531,9 +41531,11 @@ SubClassOf(obo:DOID_0070276 obo:DOID_3883) # Class: obo:DOID_0070277 (primary autosomal recessive microcephaly 15) -AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26005868"^^xsd:string) obo:IAO_0000115 obo:DOID_0070277 "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the MFSD2A gene on chromosome 1p34."^^xsd:string) +AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30043326/"^^xsd:string) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26005868"^^xsd:string) obo:IAO_0000115 obo:DOID_0070277 "A primary autosomal recessive microcephaly characterized by impaired intellectual development with poor speech, progressive microcephaly, and appendicular spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the MFSD2A gene on chromosome 1p34."^^xsd:string) AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070277 "OMIM:616486"^^xsd:string) AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070277 "MCPH15"@en) +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070277 "NEDMISBA"^^xsd:string) +AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0070277 "neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities"^^xsd:string) AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070277 "disease_ontology"^^xsd:string) AnnotationAssertion(oboInOwl:id obo:DOID_0070277 "DOID:0070277"^^xsd:string) AnnotationAssertion(rdfs:label obo:DOID_0070277 "primary autosomal recessive microcephaly 15"^^xsd:string)