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Add kyphomelic dysplasia
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src/ontology/doid-edit.owl

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@@ -2186,6 +2186,7 @@ Declaration(Class(obo:DOID_0061151))
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Declaration(Class(obo:DOID_0061152))
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Declaration(Class(obo:DOID_0061153))
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Declaration(Class(obo:DOID_0061154))
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Declaration(Class(obo:DOID_0061155))
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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))
@@ -44366,6 +44367,16 @@ AnnotationAssertion(oboInOwl:id obo:DOID_0061154 "DOID:0061154")
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AnnotationAssertion(rdfs:label obo:DOID_0061154 "Mulvihill-Smith syndrome")
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SubClassOf(obo:DOID_0061154 obo:DOID_0081332)
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# Class: obo:DOID_0061155 (kyphomelic dysplasia)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/39506047/") obo:IAO_0000115 obo:DOID_0061155 "A bone remodeling disease characterized by bowing of the limbs, primarily affecting the femurs that has_material_basis_in homozygous mutation in the CCN2 gene on chromosome 6q23.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0061155 "MIM:211350")
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AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0061155 "pseudocampomelia")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0061155 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0061155 "DOID:0061155")
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AnnotationAssertion(rdfs:label obo:DOID_0061155 "kyphomelic dysplasia")
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SubClassOf(obo:DOID_0061155 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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