Aortic Valve Disease 3
Disease ID: disease_node_20107
Connections displayed (default: 10).
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| Dbxref | MIM:618496 |
|---|---|
| Subclassof | DOID_0050736, DOID_0080332 |
| Data Source | DOID |
| Doid Label | aortic valve disease 3 |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20107 |
| Doid Id | DOID_0080977 |
| Label | Aortic Valve Disease 3 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Bicuspid Aortic Valve Disease(ID:disease_node_550) (Disease)