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Results: 4

1.

Hypercholesterolemia

A laboratory test result indicating an increased amount of cholesterol in the blood. [from NCI]

MedGen UID:
312004
Concept ID:
C1522133
Finding
2.

Fredrickson type IIa hyperlipoproteinemia

Hypercholesterolemia that is caused by mutation in the LOW DENSITY LIPOPROTEIN RECEPTOR gene. This receptor defect prevents LDL binding to the cell membrane and uptake of cholesterol which normally suppresses further cholesterol synthesis. [from MeSH]

MedGen UID:
152875
Concept ID:
C0745103
Disease or Syndrome
3.

Familial hypercholesterolemia

Familial hypercholesterolemia is an autosomal dominant disorder characterized by elevation of serum cholesterol bound to low density lipoprotein (LDL), which promotes deposition of cholesterol in the skin (xanthelasma), tendons (xanthomas), and coronary arteries (atherosclerosis). The disorder occurs in 2 clinical forms: homozygous and heterozygous (summary by Hobbs et al., 1992). [from OMIM]

MedGen UID:
5688
Concept ID:
C0020445
Disease or Syndrome
4.

Hypercholesterolaemia

A condition with abnormally high levels of CHOLESTEROL in the blood. It is defined as a cholesterol value exceeding the 95th percentile for the population. [from MeSH]

MedGen UID:
5687
Concept ID:
C0020443
Disease or Syndrome

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