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Atrioventricular septal defect 5
rareAny atrioventricular septal defect in which the cause of the disease is a mutation in the GATA6 gene.
- Identifiers
- MONDO:0013769 OMIM:614474
- Part of
- GATA6-related congenital heart disease with or without pancreatic hypoplasia or diabetesFamilial atrioventricular septal defect
- Also known as
- atrioventricular septal defect caused by mutation in GATA6 · atrioventricular septal defect type 5 · AVSD5 · GATA6 atrioventricular septal defect
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