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DO Term : right atrial isomerism [DOID:0060856] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A visceral heterotaxy that is characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and that has_material_basis_in homozygous mutation in the GDF1 gene on chromosome 19p12.
  • synonyms:
  • Ivemark syndrome,
  • OMIM:208530,
  • 208530,
  • ICD10CM:Q20.6,
  • asplenia with cardiovascular anomalies,
  • ORDO:97548
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