- Atherosclerosis (HP:0002621): A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:425)
- Abnormal circulating lipid concentration (HP:0003119): Any deviation from the normal concentration of a lipid in the blood circulation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:425)
- Decreased circulating HDL-C concentration (HP:0003233): The concentration of high-density lipoprotein cholesterol in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:425)
- Opacification of the corneal stroma (HP:0007759): Reduced transparency of the stroma of cornea. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:425)
- Blurred vision (HP:0000622): Lack of sharpness of vision resulting in the inability to see fine detail. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:425)
- Xanthomatosis (HP:0000991): The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:425)
- Xanthelasma (HP:0001114): The presence of xanthomata in the skin of the eyelid. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:425)
- Angina pectoris (HP:0001681): Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:425)
- Premature coronary artery atherosclerosis (HP:0005181): Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:425)
These phenotypes are associated with the disease Apolipoprotein A-I deficiency (ORPHA:425).