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aortic valve disease 3
Summary
- 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.
- Super Class
- autosomal dominant disease bicuspid aortic valve disease
External Links
- Disease Ontology
- DOID:0080977
- Mondo Disease Ontology
- OMIM
