Source: BEFREE
CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
---|---|---|---|---|---|---|---|---|
C0268138 | Xeroderma Pigmentosum, Complementation Group D | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | Disease or Syndrome | genetic disease | 70 | 94 |