familial atrioventricular septal defect
MONDO:0020290Mondo
Findings
No curated finding names familial atrioventricular septal defect yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A spectrum of septal defects involving the atrial septum; ventricular septum; and the atrioventricular valves (tricuspid valve; bicuspid valve). These defects are due to incomplete growth and fusion of the endocardial cushions which are important in the formation of two atrioventricular canals, site of future atrioventricular valves.
Definition from the Mondo Disease Ontology (MONDO:0020290), read 2026-09-29. CC BY 4.0.
Where it sits
Other names
1 name
Resolves to: familial atrioventricular septal defect
- Also called
- Atrioventricular Septal Defect