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patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome

Disease Summary
Associated Targets ()

Mondo Description Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant.
Mondo Term and Equivalent IDs
MONDO:0011454:  patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
MESH:C565782: 
Orphanet:228190: 
UMLS:C1858420: