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Add autosomal recessive congenital nystagmus 8
Ticket #1519
1 parent d6141a4 commit 2c63216

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src/ontology/doid-edit.owl

Lines changed: 12 additions & 1 deletion
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@@ -2209,6 +2209,7 @@ 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_0061177))
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Declaration(Class(obo:DOID_0061178))
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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))
@@ -44629,6 +44630,17 @@ AnnotationAssertion(rdfs:label obo:DOID_0061177 "X-linked spermatogenic failure
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SubClassOf(obo:DOID_0061177 obo:DOID_0111910)
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SubClassOf(obo:DOID_0061177 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000149))
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# Class: obo:DOID_0061178 (autosomal recessive congenital nystagmus 8)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/35348658/") obo:IAO_0000115 obo:DOID_0061178 "A congenital nystagmus that has_material_basis_in mutation in the FRMD7 gene on chromosome Xq26.2.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061178 "MIM:257400")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061178 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0061178 "DOID:0061178")
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AnnotationAssertion(rdfs:label obo:DOID_0061178 "autosomal recessive congenital nystagmus 8")
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SubClassOf(obo:DOID_0061178 obo:DOID_0111797)
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SubClassOf(obo:DOID_0061178 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000934))
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SubClassOf(obo:DOID_0061178 ObjectSomeValuesFrom(obo:RO_0004019 obo:HP_0001197))
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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.")
@@ -97590,7 +97602,6 @@ SubClassOf(obo:DOID_0111796 ObjectSomeValuesFrom(obo:RO_0004019 obo:HP_0001197))
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://europepmc.org/article/med/305814") obo:IAO_0000115 obo:DOID_0111797 "A congenital nystagmus characterized by autosomal recessive inheritance.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111797 "GARD:9609")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0111797 "MIM:257400")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0111797 "autosomal recessive congenital motor nystagmus")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0111797 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0111797 "DOID:0111797")

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