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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 : gata6, gata4, gja1

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

OMIM:
OMIM:600309 - ATRIOVENTRICULAR SEPTAL DEFECT 3; AVSD3
OMIM:606215 - ATRIOVENTRICULAR SEPTAL DEFECT; AVSD
OMIM:614430 - ATRIOVENTRICULAR SEPTAL DEFECT 4; AVSD4
OMIM:614474 - ATRIOVENTRICULAR SEPTAL DEFECT 5; AVSD5

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)