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Add autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia
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src/ontology/doid-edit.owl

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@@ -2216,6 +2216,7 @@ Declaration(Class(obo:DOID_0061181))
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Declaration(Class(obo:DOID_0061182))
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Declaration(Class(obo:DOID_0061183))
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Declaration(Class(obo:DOID_0061184))
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Declaration(Class(obo:DOID_0061185))
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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))
@@ -44716,6 +44717,17 @@ AnnotationAssertion(rdfs:label obo:DOID_0061184 "myopathy with myalgia, increase
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SubClassOf(obo:DOID_0061184 obo:DOID_0080000)
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SubClassOf(obo:DOID_0061184 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
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# Class: obo:DOID_0061185 (autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007638) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/26025129/") obo:IAO_0000115 obo:DOID_0061185 "A vitamin metabolic disorder characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin that has_material_basis_in heterozygous mutation in the PSTPIP1 gene on chromosome 15q24.")
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AnnotationAssertion(oboInOwl:created_by obo:DOID_0061185 "claudiasbj")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061185 "MIM:601979")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061185 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0061185 "DOID:0061185")
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AnnotationAssertion(rdfs:label obo:DOID_0061185 "autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia")
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SubClassOf(obo:DOID_0061185 obo:DOID_0050718)
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SubClassOf(obo:DOID_0061185 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000147))
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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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