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| Term | aortic valve disease 3 | ID (Ontology) | DOID:0080977 (Human Disease) |
| 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. | ||
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autosomal genetic disease |__autosomal dominant disease_____ aortic valve disease | |__bicuspid aortic valve disease__| aortic valve disease 3 |
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| Is a |
autosomal dominant disease bicuspid aortic valve disease |
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| MIM:618496 | |||