Source: GENOMICS_ENGLAND
| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes |
|---|---|---|---|---|---|---|---|
| C1854465 | TUBEROUS SCLEROSIS 1 (disorder) | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | Disease or Syndrome | genetic disease | 1 |