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congenital heart defects, multiple types, 2

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any congenital heart malformation in which the cause of the disease is a mutation in the TAB2 gene.
Uniprot Description A disease characterized by congenital developmental abnormalities involving structures of the heart. CHTD2 patients have left ventricular outflow tract obstruction, subaortic stenosis, residual aortic regurgitation, atrial fibrillation, bicuspid aortic valve and aortic dilation.
Mondo Term and Equivalent IDs
MONDO:0014000:  congenital heart defects, multiple types, 2
UMLS:C3554279: