- Cholestasis (HP:0001396): Impairment of bile flow due to obstruction in bile ducts. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:209902)
- Hepatic steatosis (HP:0001397): Steatosis is a term used to denote lipid accumulation within hepatocytes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:209902)
- Macrovesicular hepatic steatosis (HP:0001403): A form of hepatic steatosis characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:209902)
- Hypertriglyceridemia (HP:0002155): An abnormal increase in the level of triglycerides in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:209902)
- Hypercholesterolemia (HP:0003124): An increased concentration of cholesterol in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:209902)
- Elevated circulating LDL-C concentration (HP:0003141): The concentration of low-density lipoprotein cholesterol in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:209902)
- Acute hepatic steatosis (HP:0006573): An acute form of hepatic steatosis. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:209902)
- Cholesterol gallstones (HP:0011980): Gallstones composed primarily of cholesterol, usually about 2-3 cm in length with an oval form and a yellow or green/brown color. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:209902)
- Hepatitis (HP:0012115): Inflammation of the liver. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:209902)
- Obesity (HP:0001513): Accumulation of substantial excess body fat. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:209902)
- Coronary artery atherosclerosis (HP:0001677): Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:209902)
- Accelerated atherosclerosis (HP:0004943): Atherosclerosis which occurs in a person with certain risk factors (e.g., SLE, diabetes, smoking, hypertension, hypercholesterolaemia, family history of early heart disease) at an earlier age than would occur in another person without those risk factors. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:209902)
- Abnormal circulating vitamin A concentration (HP:0008372): Concentration of vitamin A in the blood circulation outside limits of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:209902)
- Aortic atherosclerotic lesion (HP:0012397): The presence of atheromas or atherosclerotic plaques in the aorta. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:209902)
- Abnormal circulating vitamin E concentration (HP:0100514): Concentration of vitamin E in the blood circulation outside of normal limits. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:209902)
These phenotypes are associated with the disease Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency (ORPHA:209902).