Term Name: aortic valve disease 3
Synonyms:
Definition: A bicuspid aortic valve disease that is characterized by aortic stenosis and/or bicuspid aortic valve, associated in some patients with aneurysm of the aortic root and/or ascending aorta and that has_material_basis_in heterozygous mutation in the ROBO4 gene on chromosome 11q24.
Ontology: Human Disease [DOID:0080977]   ( DOID:0080977 )

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