DISEASE NAME | CHARGE syndrome |
DISEASE CATEGORY (ICD10) | Congenital malformations, deformations and chromosomal abnormalities |
DISEASE ID (ICD10) | Q87.8 |
DISEASE ID (OMIM) | 618841; 616030; 147950; 244200; 308700; 610628; 612370; 612702; 614837; 614838; 614840; 614858; 614880; 614897; 615266; 615267; 615269; 615270; 615271 |
3 combinations linked to 138 | OLI1111; OLI1112; OLI1113 |
3 gene combinations linked to 138 | CHD7; SEMA3A; CHD7; SEMA3E; CHD7; NSMF |
ORPHANET ID | 138 |