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Add Nil-Deshwan neurodevelopmental syndrome (DOID:0070652)
May need to be renamed with "Nil-Deshwar" (pending OMIM changes). Closes #1516
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src/ontology/doid-edit.owl

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@@ -2868,6 +2868,7 @@ Declaration(Class(obo:DOID_0070648))
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Declaration(Class(obo:DOID_0070649))
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Declaration(Class(obo:DOID_0070650))
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Declaration(Class(obo:DOID_0070651))
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Declaration(Class(obo:DOID_0070652))
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Declaration(Class(obo:DOID_0070653))
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Declaration(Class(obo:DOID_0080000))
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Declaration(Class(obo:DOID_0080001))
@@ -53574,6 +53575,17 @@ AnnotationAssertion(skos:exactMatch obo:DOID_0070651 "MIM:619323")
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SubClassOf(obo:DOID_0070651 obo:DOID_225)
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SubClassOf(obo:DOID_0070651 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
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# Class: obo:DOID_0070652 (Nil-Deshwan neurodevelopmental syndrome)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pmc.ncbi.nlm.nih.gov/articles/PMC10645550/") obo:IAO_0000115 obo:DOID_0070652 "A syndromic intellectual disability characterized by a range of congenital anomalies and central nervous system dysfunction, including global developmental delay, feeding difficulties, hypotonia, and impaired intellectual development that has_material_basis_in heterozygous mutation in the DOT1L gene on chromosome 19p13.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0070652 "MIM:621265")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0070652 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0070652 "DOID:0070652")
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AnnotationAssertion(oboInOwl:inSubset obo:DOID_0070652 doid:DO_rare_slim)
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AnnotationAssertion(rdfs:label obo:DOID_0070652 "Nil-Deshwan neurodevelopmental syndrome")
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AnnotationAssertion(skos:exactMatch obo:DOID_0070652 "MIM:621265")
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SubClassOf(obo:DOID_0070652 obo:DOID_0050888)
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# Class: obo:DOID_0070653 (Fliedner-Zweier syndrome)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32730804/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/36333968/") Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/37394306/") obo:IAO_0000115 obo:DOID_0070653 "A syndromic intellectual disability characterized by variable manifestations including mild intellectual disability, seizures, behavioral abnormalities, and skeletal and structural anomalies that has_material_basis_in heterozygous mutation in the SCAF4 gene on chromosome 21q22.")

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