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Summary Literature (1)
DOID:0050651 - atrioventricular septal defect

Disease Ontology Definition: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: AVCD, AVSD, ECD, atrioventricular canal defect, endocardial cushion defect,

Xenbase Genes : hand1, gata6, gata4, gja1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0020290 - familial atrioventricular septal defect


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): heart septal defect (is_a)