| DISEASE NAME | Epidermolysis bullosa simplex |
| DISEASE CATEGORY (ICD10) | Congenital malformations, deformations and chromosomal abnormalities |
| DISEASE ID (ICD10) | Q81.0 |
| DISEASE ID (OMIM) | N.A. |
| 6 combinations linked to 304 | OLI240; OLI250; OLI414; OLI443; OLI517; OLI1248 |
| 3 gene combinations linked to 304 | ENPP1; EXPH5; KRT14; KRT5; COL17A1; EXPH5 |
| ORPHANET ID | 304 |