atrioventricular septal defect 5
Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA6 gene.
MONDO:0020290
familial atrioventricular septal defect
is_a
MONDO:0100540
GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes
is_a
AVSD5
related
GATA6 atrioventricular septal defect
exact
atrioventricular septal defect 5
exact
atrioventricular septal defect caused by mutation in GATA6
exact
atrioventricular septal defect type 5
exact
SPCC1902.01