Source: GENOMICS_ENGLAND

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
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
C0008350 Cholelithiasis disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 1
C3554241 CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 disease Disease or Syndrome genetic disease; 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