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congenital heart defects, multiple types, 5

Disease Summary
Associated Targets (1)
Tbio

1


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, patent ductus arteriosus, and tetralogy of Fallot. Some patients also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions. CHTD5 inheritance can be autosomal dominant or recessive.
Mondo Term and Equivalent IDs
MONDO:0060663:  congenital heart defects, multiple types, 5
UMLS:CN873437: