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Add complex cortical dysplasia with other brain malformations 9
#1472
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src/ontology/doid-edit.owl

Lines changed: 14 additions & 1 deletion
Original file line numberDiff line numberDiff line change
@@ -2168,6 +2168,7 @@ Declaration(Class(obo:DOID_0061134))
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Declaration(Class(obo:DOID_0061135))
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Declaration(Class(obo:DOID_0061136))
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Declaration(Class(obo:DOID_0061137))
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Declaration(Class(obo:DOID_0061138))
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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))
@@ -14399,6 +14400,7 @@ Declaration(Class(obo:DOID_999))
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Declaration(Class(obo:DOID_9993))
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Declaration(Class(obo:DOID_9995))
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Declaration(Class(obo:DOID_9997))
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Declaration(Class(obo:NCBITaxon_3050297))
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Declaration(ObjectProperty(obo:IDO_0000664))
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Declaration(ObjectProperty(<http://purl.obolibrary.org/obo/RO#_is_a>))
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Declaration(AnnotationProperty(obo:IAO_0000115))
@@ -39490,7 +39492,7 @@ SubClassOf(obo:DOID_0060777 ObjectSomeValuesFrom(obo:RO_0004019 obo:HP_0001197))
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# Class: obo:DOID_0060778 (congenital diarrhea 7 with exudative enteropathy)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23114594") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31778854/") obo:IAO_0000115 obo:DOID_0060778 "A congenital diarrhea characterized by early-onset nonbloody watery diarrhea and unresponsiveness to soy-based or elemental formulas that has_material_basis_in homozygous or compound heterozygous mutation in the DGAT1 gene on chromosome 8q24.")
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/31778854/") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/23114594") obo:IAO_0000115 obo:DOID_0060778 "A congenital diarrhea characterized by early-onset nonbloody watery diarrhea and unresponsiveness to soy-based or elemental formulas that has_material_basis_in homozygous or compound heterozygous mutation in the DGAT1 gene on chromosome 8q24.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060778 "ICD10CM:P78.3")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060778 "MIM:615863")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060778 "ORDO:329242")
@@ -44071,6 +44073,17 @@ AnnotationAssertion(oboInOwl:id obo:DOID_0061137 "DOID:0061137")
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AnnotationAssertion(rdfs:label obo:DOID_0061137 "spinocerebellar ataxia type 27B")
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SubClassOf(obo:DOID_0061137 obo:DOID_1441)
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# Class: obo:DOID_0061138 (complex cortical dysplasia with other brain malformations 9)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/30013181/") obo:IAO_0000115 obo:DOID_0061138 "A complex cortical dysplasia with other brain malformations characterized by profoundly impaired motor and cognitive development apparent from early infancy that has_material_basis_in homozygous mutation in the CTNNA2 gene on chromosome 2p12.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061138 "MIM:618174")
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AnnotationAssertion(Annotation(oboInOwl:hasSynonymType obo:OMO_0003012) oboInOwl:hasExactSynonym obo:DOID_0061138 "CDCBM9")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061138 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0061138 "DOID:0061138")
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AnnotationAssertion(rdfs:label obo:DOID_0061138 "complex cortical dysplasia with other brain malformations 9")
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SubClassOf(obo:DOID_0061138 obo:DOID_0090131)
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SubClassOf(obo:DOID_0061138 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
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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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