- Intrahepatic cholestasis (HP:0001406): Impairment of bile flow due to obstruction in the small bile ducts within the liver. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:69663)
- Abdominal colic (HP:0011848): A type of abdominal pain that comes and goes in waves, most often starting and ending suddenly and being of severe intensity. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:69663)
- Cholelithiasis (HP:0001081): Hard, pebble-like deposits that form within the gallbladder. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:69663)
- Elevated circulating hepatic transaminase concentration (HP:0002910): Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:69663)
- Overweight (HP:0025502): Increased body weight with a body mass index of 25-29.9 kg per square meter. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:69663)
- Elevated gamma-glutamyltransferase level (HP:0030948): Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:69663)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:69663)
- Cholecystitis (HP:0001082): The presence of inflammatory changes in the gallbladder. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:69663)
- Hepatocellular carcinoma (HP:0001402): A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:69663)
- Obesity (HP:0001513): Accumulation of substantial excess body fat. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:69663)
- Pancreatitis (HP:0001733): The presence of inflammation in the pancreas. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:69663)
- Neoplasm of the liver (HP:0002896): A tumor (abnormal growth of tissue) of the liver. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:69663)
- Hypercholesterolemia (HP:0003124): An increased concentration of cholesterol in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:69663)
- Biliary tract obstruction (HP:0005230): Obstruction affecting the biliary tree. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:69663)
- Cholangitis (HP:0030151): Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:69663)
- Diabetes mellitus (HP:0000819): A group of abnormalities characterized by hyperglycemia and glucose intolerance. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:69663)
- Biliary cirrhosis (HP:0002613): Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:69663)
- Sclerosing cholangitis (HP:0030991): Cholangitis associated with evident ductal fibrosis that develops as a consequence of long-standing bile duct inflammatory, obstruction, or ischemic injury; it can be obliterative or nonobliterative. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:69663)
- Liver abscess (HP:0100523): A localized, circumscribed collection of purulent material (pus) within the liver parenchyma, typically resulting from a bacterial, parasitic, or fungal infection. Unlike hepatitis, which is often diffuse, an abscess is a focal lesion. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:69663)
These phenotypes are associated with the disease Low phospholipid-associated cholelithiasis (ORPHA:69663).