Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0019562 Von Hippel-Lindau Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity; disease of cellular proliferation 174 187
C0027672 Neoplastic Syndromes, Hereditary group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 88 6387
C1837915 ERYTHROCYTOSIS, FAMILIAL, 2 disease Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 54