Disease-gene associations mined from literature

Human genes for atrioventricular septal defect

Atrioventricular septal defect [DOID:0050651]

A congenital heart septal defect characterized 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, thus allowing extra blood to circulate the lungs.

Synonyms:  atrioventricular septal defect,  DOID:0050651,  AVCD,  AVSD,  atrioventricular canal defect ...

Linkouts:  OMIM #1 #2 #3 #4