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lschriml committed Aug 10, 2020
2 parents 083ab60 + 06dce96 commit 36a3a6a
Showing 1 changed file with 3 additions and 1 deletion.
4 changes: 3 additions & 1 deletion src/ontology/doid-edit.owl
Original file line number Diff line number Diff line change
Expand Up @@ -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)
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