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hypoplastic left heart syndrome 2

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the NKX2-5 gene.
Uniprot Description A syndrome due to defective development of the aorta proximal to the entrance of the ductus arteriosus, and hypoplasia of the left ventricle and mitral valve. As a result of the abnormal circulation, the ductus arteriosus and foramen ovale are patent and the right atrium, right ventricle, and pulmonary artery are enlarged.
Mondo Term and Equivalent IDs
MONDO:0013752:  hypoplastic left heart syndrome 2
UMLS:C3280795: