familial atrioventricular septal defect
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.
MONDO:0002078
heart septal defect
is_a
MONDO:0100547
cardiogenetic disease
is_a
AV septal defect
narrow
AVCD
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AVSD
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Atrioventricular Septal Defect
exact
ECD
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atrioventricular canal defect
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atrioventricular septal defect
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common AV canal
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common atrioventricular canal
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endocardial cushion defect
narrow
SPCC1902.01