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Add developmental and epileptic encephalopathy 118
Issue #1517
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src/ontology/doid-edit.owl

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@@ -2207,6 +2207,7 @@ Declaration(Class(obo:DOID_0061172))
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Declaration(Class(obo:DOID_0061173))
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Declaration(Class(obo:DOID_0061174))
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Declaration(Class(obo:DOID_0061175))
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Declaration(Class(obo:DOID_0061176))
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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))
@@ -44607,6 +44608,16 @@ AnnotationAssertion(oboInOwl:id obo:DOID_0061175 "DOID:0061175")
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AnnotationAssertion(rdfs:label obo:DOID_0061175 "Gollop-Wolfgang complex")
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SubClassOf(obo:DOID_0061175 obo:DOID_0080015)
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# Class: obo:DOID_0061176 (developmental and epileptic encephalopathy 118)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/37421948/") obo:IAO_0000115 obo:DOID_0061176 "A developmental and epileptic encephalopathy characterized by early-onset refractory epilepsy, severe global developmental delay usually with absent speech, hypotonia evolving to spastic quadriparesis, nystagmus, cortical visual impairment, and hematologic abnormalities that has_material_basis_in heterozygous mutation in the TMEM63B gene on chromosome 6p21.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061176 "MIM:621250")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061176 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0061176 "DOID:0061176")
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AnnotationAssertion(rdfs:label obo:DOID_0061176 "developmental and epileptic encephalopathy 118")
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SubClassOf(obo:DOID_0061176 obo:DOID_0112202)
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SubClassOf(obo:DOID_0061176 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
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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.")

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