Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0007097 Carcinoma group Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 2462 103
C0000889 Acanthosis Nigricans disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument 64 11
C1868678 THANATOPHORIC DYSPLASIA, TYPE I (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity 20 18
C1300257 Thanatophoric dysplasia, type 2 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity 11 17
C2674173 Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality genetic disease 3 9