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lschriml
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added new AD distal hereditary motor neuronopathy 15
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src/ontology/doid-edit.owl

Lines changed: 12 additions & 1 deletion
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@@ -1101,6 +1101,7 @@ Declaration(Class(obo:DOID_0051038))
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Declaration(Class(obo:DOID_0051039))
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Declaration(Class(obo:DOID_0051040))
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Declaration(Class(obo:DOID_0051041))
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Declaration(Class(obo:DOID_0051042))
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Declaration(Class(obo:DOID_0060000))
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Declaration(Class(obo:DOID_0060001))
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Declaration(Class(obo:DOID_0060002))
@@ -28463,6 +28464,16 @@ AnnotationAssertion(rdfs:label obo:DOID_0051041 "primary autosomal recessive mic
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SubClassOf(obo:DOID_0051041 obo:DOID_0070296)
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SubClassOf(obo:DOID_0051041 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
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# Class: obo:DOID_0051042 (autosomal dominant distal hereditary motor neuronopathy 15)
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AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/37907725/") obo:IAO_0000115 obo:DOID_0051042 "An autosomal dominant distal hereditary motor neuronopathy that is characterized by adult onset of slowly progressive distal weakness and atrophy of the lower limbs associated with absent reflexes and that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0051042 "MIM:621094")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0051042 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0051042 "DOID:0051042")
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AnnotationAssertion(rdfs:label obo:DOID_0051042 "autosomal dominant distal hereditary motor neuronopathy 15")
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SubClassOf(obo:DOID_0051042 obo:DOID_0111198)
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SubClassOf(obo:DOID_0051042 ObjectSomeValuesFrom(obo:RO_0002488 obo:HP_0003581))
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# Class: obo:DOID_0060000 (infective endocarditis)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007638) Annotation(oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Endocarditis") Annotation(oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Infective_endocarditis") obo:IAO_0000115 obo:DOID_0060000 "An endocarditis that is characterized by inflammation of the endocardium caused by infectious agents.")
@@ -129015,9 +129026,9 @@ AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_13515 "UMLS_CUI:C0041341")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_13515 "Bourneville's disease")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_13515 "Epiloia")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_13515 "Tuberose sclerosis")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_13515 "Tuberous sclerosis complex")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_13515 "Tuberous sclerosis syndrome")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_13515 "cerebral sclerosis")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_13515 "Tuberous sclerosis complex")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_13515 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_13515 "DOID:13515")
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AnnotationAssertion(oboInOwl:inSubset obo:DOID_13515 doid:DO_FlyBase_slim)

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