C123416Level 8
Hyperlipoproteinemia, Type IIa
**Semantic type:** Disease or Syndrome
**Definition:** An autosomal dominant inherited disorder characterized by very high levels of low-density lipoprotein cholesterol (LDL-C) and total cholesterol in the blood. It is usually caused by mutations in the LDLR gene which is located on the short arm of chromosome 19.
**Synonyms:** - FH - Familial Hypercholesterolemia - Hyperlipidemia Type IIa - Type IIa Hyperlipidemia
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