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Add maple syrup urine disease type IA
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src/ontology/doid-edit.owl

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@@ -2237,6 +2237,7 @@ Declaration(Class(obo:DOID_0061199))
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Declaration(Class(obo:DOID_0061200))
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Declaration(Class(obo:DOID_0061201))
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Declaration(Class(obo:DOID_0061202))
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Declaration(Class(obo:DOID_0061203))
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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))
@@ -45024,6 +45025,16 @@ AnnotationAssertion(rdfs:label obo:DOID_0061202 "congenital muscular dystrophy w
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SubClassOf(obo:DOID_0061202 obo:DOID_0050663)
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SubClassOf(obo:DOID_0061202 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
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# Class: obo:DOID_0061203 (maple syrup urine disease type IA)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/7182976/") obo:IAO_0000115 obo:DOID_0061203 "A maple syrup urine disease characterized by mental and physical retardation, feeding problems, and a maple syrup odor to the urine that has_material_basis_in homozygous or compound heterozygous mutation in the BCKDHA gene, which encodes the E1-alpha subunit of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), on chromosome 19q13.")
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AnnotationAssertion(oboInOwl:created_by obo:DOID_0061203 "claudiasbj")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061203 "MIM:248600")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061203 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0061203 "DOID:0061203")
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AnnotationAssertion(rdfs:label obo:DOID_0061203 "maple syrup urine disease type IA")
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SubClassOf(obo:DOID_0061203 obo:DOID_9269)
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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.")
@@ -208108,7 +208119,6 @@ AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_9269 "GARD:3228")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_9269 "ICD10CM:E71.0")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_9269 "MESH:D008375")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_9269 "MIM:246900")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_9269 "MIM:248600")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_9269 "MIM:615135")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_9269 "NCI:C34806")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_9269 "ORDO:511")

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