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Add Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2
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src/ontology/doid-edit.owl

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@@ -2270,6 +2270,7 @@ Declaration(Class(obo:DOID_0061224))
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Declaration(Class(obo:DOID_0061225))
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Declaration(Class(obo:DOID_0061226))
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Declaration(Class(obo:DOID_0061227))
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Declaration(Class(obo:DOID_0061228))
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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))
@@ -44725,6 +44726,16 @@ AnnotationAssertion(rdfs:label obo:DOID_0061227 "autosomal recessive cerebral ar
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SubClassOf(obo:DOID_0061227 obo:DOID_13945)
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SubClassOf(obo:DOID_0061227 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
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# Class: obo:DOID_0061228 (autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/19387015/") obo:IAO_0000115 obo:DOID_0061228 "A CADASIL characterized by alopecia, spondylosis, and progressive motor dysfunction and dementia. Onset is usually in the second or third decade that has_material_basis_in homozygous or compound heterozygous mutation in the HTRA1 gene on chromosome 10q26.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061228 "MIM:600142")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061228 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0061228 "DOID:0061228")
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AnnotationAssertion(rdfs:label obo:DOID_0061228 "autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2")
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SubClassOf(obo:DOID_0061228 obo:DOID_13945)
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SubClassOf(obo:DOID_0061228 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.")
@@ -86479,20 +86490,20 @@ SubClassOf(obo:DOID_0111034 ObjectSomeValuesFrom(obo:RO_0004029 obo:DOID_0090070
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SubClassOf(obo:DOID_0111034 ObjectSomeValuesFrom(obo:RO_0004029 obo:DOID_381))
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SubClassOf(obo:DOID_0111034 ObjectSomeValuesFrom(obo:RO_0004029 obo:DOID_5082))
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# Class: obo:DOID_0111035 (autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1)
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# Class: obo:DOID_0111035 (autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/10476042") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/8878478") obo:IAO_0000115 obo:DOID_0111035 "A CADASIL characterized by migraine, strokes, and white matter lesions that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111035 "ICD10CM:F01.1")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111035 "MIM:125310")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0111035 "CADASIL 1")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0111035 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0111035 "DOID:0111035")
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AnnotationAssertion(rdfs:label obo:DOID_0111035 "autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1")
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AnnotationAssertion(rdfs:label obo:DOID_0111035 "autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1")
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SubClassOf(obo:DOID_0111035 obo:DOID_13945)
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SubClassOf(obo:DOID_0111035 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
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DisjointClasses(obo:DOID_0111035 obo:DOID_0111036)
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# Class: obo:DOID_0111036 (autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2)
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# Class: obo:DOID_0111036 (autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/26063658") obo:IAO_0000115 obo:DOID_0111036 "A CADASIL characterized by stroke, transient ischemic attacks, cognitive impairment, dementia, balance impairment, gait disturbance, headaches, and/or seizures associated with early confluent or confluent diffuse white matter hyperintensities that has_material_basis_in heterozygous mutation in the HTRA1 gene on chromosome 10q26.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111036 "ICD10CM:F01.1")
@@ -86501,7 +86512,7 @@ AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0111036 "autosomal dominan
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0111036 "CADASIL 2")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0111036 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0111036 "DOID:0111036")
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AnnotationAssertion(rdfs:label obo:DOID_0111036 "autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2")
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AnnotationAssertion(rdfs:label obo:DOID_0111036 "autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2")
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SubClassOf(obo:DOID_0111036 obo:DOID_13945)
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SubClassOf(obo:DOID_0111036 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
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