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Disease Ontology Browser
atrioventricular septal defect (DOID:0050651)
Alliance: disease page
Synonyms: atrioventricular canal defect; AVCD; AVSD; ECD; endocardial cushion defect
Alt IDs: OMIM:606215, OMIM:614430, OMIM:614474, ICD10CM:Q21.2, ICD9CM:745.6, ICD9CM:745.60, MESH:D004694, ORDO:98722, UMLS_CUI:C0014116
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.

Disease References using Mouse Models (6)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
03/25/2025
MGI 6.24 		The Jackson Laboratory