DISEASE NAME | Familial bicuspid aortic valve |
DISEASE CATEGORY (ICD10) | Congenital malformations, deformations and chromosomal abnormalities |
DISEASE ID (ICD10) | Q23.1 |
DISEASE ID (OMIM) | 109730; 614823 |
5 combinations linked to 402075 | OLI1472; OLI1473; OLI1742; OLI1743; OLI1744 |
5 gene combinations linked to 402075 | ROBO2; ROBO4; ROBO4; SLIT1; SLIT1; SLIT2; CELSR1; SPTBN1; CELSR1; PLXND1 |
ORPHANET ID | 402075 |