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DO Term : intellectual developmental disorder with cardiac arrhythmia [DOID:0081008] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • OMIM:617173,
  • GNB5-related intellectual disability-cardiac arrhythmia syndrome,
  • 617173,
  • ORDO:542306
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Ontology

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Ontology Term --> Direct children

Ontology Term --> Direct parents