Term Name: | aortic valve disease 3 |
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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 ) |