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Add autosomal dominant intellectual developmental disorder 60 with seizures
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src/ontology/doid-edit.owl

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@@ -2073,6 +2073,7 @@ Declaration(Class(obo:DOID_0061046))
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Declaration(Class(obo:DOID_0061047))
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Declaration(Class(obo:DOID_0061048))
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Declaration(Class(obo:DOID_0061049))
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Declaration(Class(obo:DOID_0061050))
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Declaration(Class(obo:DOID_0070000))
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Declaration(Class(obo:DOID_0070001))
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Declaration(Class(obo:DOID_0070002))
@@ -42864,6 +42865,16 @@ AnnotationAssertion(rdfs:label obo:DOID_0061049 "autosomal dominant intellectual
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SubClassOf(obo:DOID_0061049 obo:DOID_0060307)
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SubClassOf(obo:DOID_0061049 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
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# Class: obo:DOID_0061050 (autosomal dominant intellectual developmental disorder 60 with seizures)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31104773/") obo:IAO_0000115 obo:DOID_0061050 "An autosomal dominant intellectual developmental disorder characterized by global developmental delay apparent in infancy, followed by onset of seizures in the first years of life that has_material_basis_in heterozygous mutation in the AP2M1 gene on chromosome 3q27.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061050 "MIM:618587")
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AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0061050 "MRD60")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061050 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0061050 "DOID:0061050")
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AnnotationAssertion(rdfs:label obo:DOID_0061050 "autosomal dominant intellectual developmental disorder 60 with seizures")
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SubClassOf(obo:DOID_0061050 obo:DOID_0060307)
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# 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.")
@@ -56187,8 +56198,8 @@ SubClassOf(obo:DOID_0080408 obo:DOID_0050567)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007637) Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://ghr.nlm.nih.gov/condition/familial-adenomatous-polyposis") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/1651563") obo:IAO_0000115 obo:DOID_0080409 "A familial adenomatous polyposis that is characterized by predisposition to cancer and that has_material_basis_in heterozygous mutation in the APC gene on chromosome 5q22. Affected individuals usually develop hundreds to thousands of adenomatous polyps of the colon and rectum, a small proportion of which will progress to colorectal carcinoma if not surgically treated.")
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AnnotationAssertion(oboInOwl:hasAlternativeId obo:DOID_0080409 "DOID:8269")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080409 "MIM:175100")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080409 "ICDO:8220/3")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080409 "MIM:175100")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0080409 "adenocarcinoma in adenomatous polyposis coli")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0080409 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0080409 "DOID:0080409")

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