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Nomenclature update of intellectual developmental disorder with cardiac arrhythmia
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src/ontology/doid-edit.owl

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@@ -65869,7 +65869,7 @@ AnnotationAssertion(rdfs:label obo:DOID_0081007 "RNASET2-deficient cystic leukoe
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SubClassOf(obo:DOID_0081007 obo:DOID_10579)
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SubClassOf(obo:DOID_0081007 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
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# Class: obo:DOID_0081008 (intellectual developmental disorder with cardiac arrhythmia)
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# Class: obo:DOID_0081008 (Lodder-Merla syndrome type 1 with impaired intellectual development and cardiac arrhythmia)
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AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/27523599/") obo:IAO_0000115 obo:DOID_0081008 "A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias and that has_material_basis_in homozygous or compound heterozygous mutation in the GNB5 gene on chromosome 15q21.")
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AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0081008 "MIM:617173")
@@ -65878,7 +65878,9 @@ AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0081008 "GNB5-related inte
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AnnotationAssertion(oboInOwl:hasOBONamespace obo:DOID_0081008 "disease_ontology")
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AnnotationAssertion(oboInOwl:id obo:DOID_0081008 "DOID:0081008")
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AnnotationAssertion(oboInOwl:inSubset obo:DOID_0081008 doid:DO_rare_slim)
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AnnotationAssertion(rdfs:label obo:DOID_0081008 "intellectual developmental disorder with cardiac arrhythmia")
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AnnotationAssertion(rdfs:comment obo:DOID_0081008 "Nomenclature update on Nov 2025 (claudiasbj)")
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AnnotationAssertion(rdfs:label obo:DOID_0081008 "Lodder-Merla syndrome type 1 with impaired intellectual development and cardiac arrhythmia")
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AnnotationAssertion(skos:exactMatch obo:DOID_0081008 "intellectual developmental disorder with cardiac arrhythmia")
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SubClassOf(obo:DOID_0081008 obo:DOID_225)
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SubClassOf(obo:DOID_0081008 ObjectSomeValuesFrom(obo:IDO_0000664 obo:GENO_0000148))
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