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aortic valve disease 2

Disease Summary
Associated Targets (2)
Tbio

2


Mondo Description Any aortic valve disease in which the cause of the disease is a mutation in the SMAD6 gene.
Uniprot Description A common defect in the aortic valve in which two rather than three leaflets are present. It is often associated with aortic valve calcification, stenosis and insufficiency. In extreme cases, the blood flow may be so restricted that the left ventricle fails to grow, resulting in hypoplastic left heart syndrome.
Disease Ontology Description A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the SMAD6 gene on chromosome 15q22.
Mondo Term and Equivalent IDs
MONDO:0013902:  aortic valve disease 2
UMLS:C3542024: