CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0031269 Peutz-Jeghers Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity; disease of cellular proliferation 71 79