OBO ID: DOID:0050651
Term Name: atrioventricular septal defect Search Ontology:
Synonyms:
  • atrioventricular canal defect
  • AVCD
  • AVSD
  • ECD
  • endocardial cushion defect
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. (2)
References:
Ontology: Human Disease   (DOID:0050651)
OTHER atrioventricular septal defect PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GATA4 Atrioventricular septal defect 4 614430
GATA6 Atrioventricular septal defect 5 614474
GJA1 Atrioventricular septal defect 3 600309
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)