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Aortic Valve Disease 2 (MONDO:0013902)

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

Overview

Category

Ontology ID

Internal:14914

Synonyms

SMAD6 aortic valve disease

aortic valve disease 2

aortic valve disease caused by mutation in SMAD6

aortic valve disease type 2

AOVD2

aortic valve stenosis

bicuspid aortic valve

Mapped terms

DOID:0080334

GARD:0018471

MEDGEN:762200

OMIM:614823

UMLS:C3542024

Child terms

Unknown children.