Hypercholesterolemia, Familial, 2

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant condition caused by mutation(s) in the APOB gene, encoding apolipoprotein B-100. It is characterized by hypercholesterolemia and abnormal low-density lipoproteins.

**Synonyms:** - Autosomal Dominant Hypercholesterolemia - FCHL2 - Familial Hypercholesterolemia 2