Source: GENOMICS_ENGLAND

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0008350 Cholelithiasis disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 1
C0268312 Progressive intrahepatic cholestasis (disorder) disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity 3
C4551898 Cholestasis, progressive familial intrahepatic 1 disease Digestive System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 2
C0947622 Cholecystolithiasis disease Digestive System Diseases Disease or Syndrome disease of anatomical entity 1
C1865643 Cholestasis, progressive familial intrahepatic 3 disease Digestive System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1
C2609268 Low phospholipid-associated cholelithiasis disease Digestive System Diseases Disease or Syndrome disease of anatomical entity 1
C3554241 CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 disease Disease or Syndrome genetic disease; disease of anatomical entity 1