Atrioventricular septal defect 5

Definition

Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA6 gene.

Also known as atrioventricular septal defect 5, atrioventricular septal defect caused by mutation in GATA6, atrioventricular septal defect type 5, GATA6 atrioventricular septal defect — per MONDO

Also identified as

• OMIM 614474 per MONDO
• UMLS C3280939 per MONDO