| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C2752147 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | Disease or Syndrome; Congenital Abnormality | genetic disease | 1 | 58 |