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Update definition Cornelia de Lange syndrome 1
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src/ontology/doid-edit.owl

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@@ -57978,7 +57978,7 @@ SubClassOf(obo:DOID_0080504 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_000014
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# Class: obo:DOID_0080505 (Cornelia de Lange syndrome 1)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20583156") obo:IAO_0000115 obo:DOID_0080505 "A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the NIPBL gene, which encodes a component of the cohesin complex, on chromosome 5p13.")
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/20583156") obo:IAO_0000115 obo:DOID_0080505 "A Cornelia de Lange syndrome characterized by facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, impaired intellectual development, and, in many cases, upper limb anomalies that has_material_basis_in heterozygous mutation in the NIPBL gene, which encodes a component of the cohesin complex, on chromosome 5p13.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0080505 "MIM:122470")
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0080505 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0080505 "DOID:0080505")

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