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Update definition of primary autosomal recessive microcephaly 9
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src/ontology/doid-edit.owl

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@@ -47384,7 +47384,7 @@ SubClassOf(obo:DOID_0070291 obo:DOID_0070296)
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# Class: obo:DOID_0070292 (primary autosomal recessive microcephaly 9)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20598275") obo:IAO_0000115 obo:DOID_0070292 "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21.")
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20598275") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/15806441/") obo:IAO_0000115 obo:DOID_0070292 "A primary autosomal recessive microcephaly characterized by head circumference more than 3 standard deviations below the age- and sex-matched population mean and impaired intellectual development, with no other associated malformations and with no apparent etiology that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070292 "MIM:614852")
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AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0070292 "MCPH9")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070292 "disease_ontology")

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