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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/15784703/") obo:IAO_0000115 obo:DOID_0061172 "A neonatal diabetes that has_material_basis_in heterozygous mutation in the KCNJ11 gene on chromosome 11p15.")
# Class: obo:DOID_0070000 (3-methylglutaconic aciduria type 8)
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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.")
AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4252") obo:IAO_0000115 obo:DOID_5692 "A liposarcoma characterized by the presence of solid sheets of primitive round mesenchymal cells and the absence of myxoid stroma.")
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