Hypercholesterolemia, autosomal dominant, 3

Definition

Any familial hypercholesterolemia in which the cause of the disease is a mutation in the PCSK9 gene.

Also known as familial hypercholesterolemia caused by mutation in PCSK9, hypercholesterolemia, autosomal dominant, 3, hypercholesterolemia, autosomal dominant, type 3, hypercholesterolemia, familial, 3, low density lipoprotein cholesterol level QTL 1, PCSK9 familial hypercholesterolemia — per MONDO

Also identified as

• MESH C566337 per MONDO
• OMIM 603776 per MONDO
• UMLS C1863551 per MONDO