Source: GENOMICS_ENGLAND
| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes |
|---|---|---|---|---|---|---|---|
| C0268135 | Xeroderma pigmentosum, group A | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | Disease or Syndrome | genetic disease | 1 |