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Summary Literature (0)
DOID:0080334 - aortic valve disease 2

Disease Ontology Definition:A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the SMAD6 gene on chromosome 15q22.

Synonyms:

Xenbase Genes : smad6, smad6.2



Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a)