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DO Term : atrioventricular septal defect [DOID:0050651] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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:
614430,
ICD9CM:745.6,
endocardial cushion defect,
atrioventricular canal defect,
OMIM:614430,
606215,
AVCD,
GARD:802,
ORDO:98722,
ICD10CM:Q21.2,
SNOMEDCT_US_2023_03_01:204322008,
MESH:D004694,
614474,
UMLS_CUI:C0014116,
AVSD,
OMIM:606215,
ECD,
OMIM:614474

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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