Disease-gene associations mined from literature

Human genes for atrioventricular septal defect

Atrioventricular septal defect [DOID:0050651]

Atrioventricular septal defect (AVSD) or atrioventricular canal defect (AVCD), previously known as "common atrioventricular canal" (CAVC) or "endocardial cushion defect", is characterized by a deficiency of the atrioventricular septum of the heart. It is caused by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum.

Synonyms:  atrioventricular septal defect,  DOID:0050651,  Atrioventricular canal defect

Linkouts:  OMIM #1 #2 #3 #4