Term Name: aortic valve disease 2
Synonyms:
Definition: A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the SMAD6 gene on chromosome 15q22.
Ontology: Human Disease [DOID:0080334]   ( DOID:0080334 )

Relationships
is a type of: autosomal dominant disease bicuspid aortic valve disease