| DISEASE NAME | Osteopetrosis and related disorders |
| DISEASE CATEGORY (ICD10) | Congenital malformations, deformations and chromosomal abnormalities |
| DISEASE ID (ICD10) | Q78.2 |
| DISEASE ID (OMIM) | N.A. |
| 1 combination linked to 2781 | OLI515 |
| 1 gene combination linked to 2781 | CLCN7; TCIRG1 |
| ORPHANET ID | 2781 |