/aortic valve disease 2

aortic valve disease 2

Rare Disease

MONDO:0013902

Also Known As

SMAD6 aortic valve diseaseaortic valve disease 2aortic valve disease caused by mutation in SMAD6aortic valve disease type 2AOVD2aortic valve stenosisbicuspid aortic valve

Definition

Any aortic valve disease in which the cause of the disease is a mutation in the SMAD6 gene.

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Associated Genes

SMAD6 ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:614823 ↗

GARD

GARD:18471 ↗

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