aortic valve disease 3 (DOID:0080977)
Alliance: disease page
Alt IDs: OMIM:618496
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.