" /> Aortic valve disease 2 - CISMeF





Preferred Label : Aortic valve disease 2;

Symbol : AOVD2;

CISMeF acronym : AOVD2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Bicuspid aortic valve; Aortic valve stenosis;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the mothers against decapentaplegic, Drosophila, homolog of, 6 gene (SMAD6, 602931.0001);

Prefixed ID : #614823;

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28/07/2025


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