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 1 15