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congenital heart defects, multiple types, 4

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description Any congenital heart defects, multiple types in which the cause of the disease is a mutation in the NR2F2 gene.
Uniprot Description A disorder characterized by congenital developmental abnormalities involving structures of the heart. Common defects include transposition of the great arteries, aortic stenosis, atrial septal defect, ventricular septal defect, pulmonic stenosis, and patent ductus arteriosus. Some patients also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions.
Mondo Term and Equivalent IDs
MONDO:0014344:  congenital heart defects, multiple types, 4
UMLS:C4014310: