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DO Term : atrial heart septal defect 7 [DOID:0110112] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An atrial heart septal defect that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35.
  • synonyms:
  • OMIM:108900,
  • atrial septal defect-atrioventricular conduction defects syndrome,
  • ORDO:1479,
  • ICD10CM:Q21.1,
  • atrial septal defect 7, with or without AV conduction defects,
  • 108900,
  • ASD with or without atrioventricular conduction defects
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