Disease association ontology term - MONDO:0020290 - familial atrioventricular septal defect
Term summary
- ID
- MONDO:0020290
- Name
- familial atrioventricular septal defect
- Ontology or CV name
- Disease association
- 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.