- Hypertriglyceridemia (HP:0002155, a Human Phenotype Ontology term): An abnormal increase in the level of triglycerides in the blood. Evidence: TAS. Frequency: Obligate (HP:0040280, a Human Phenotype Ontology term). (ORPHA:140905)
- Elevated circulating HDL-C concentration (HP:0012184, a Human Phenotype Ontology term): The concentration of high-density lipoprotein cholesterol in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Obligate (HP:0040280, a Human Phenotype Ontology term). (ORPHA:140905)
- Eruptive xanthomas (HP:0001013, a Human Phenotype Ontology term): Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:140905)
- Angina pectoris (HP:0001681, a Human Phenotype Ontology term): Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:140905)
- Premature coronary artery atherosclerosis (HP:0005181, a Human Phenotype Ontology term): 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, a Human Phenotype Ontology term). (ORPHA:140905)
These phenotypes are associated with the disease Hyperlipidemia due to hepatic triacylglycerol lipase deficiency (ORPHA:140905, an Orphanet rare-disease identifier).