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atrial septal defect 2

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA4 gene.
Uniprot Description A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. Patients show other heart abnormalities including ventricular and atrioventricular septal defects, pulmonary valve thickening or insufficiency of the cardiac valves. The disease is not associated with defects in the cardiac conduction system or non-cardiac abnormalities.
Mondo Term and Equivalent IDs
MONDO:0011938:  atrial septal defect 2
MESH:C538263: 
UMLS:C1842778: