Familial hypobetalipoproteinemia 2
Familial hypobetalipoproteinemia 2
Definition
Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the ANGPTL3 gene.
Also known as ANGPTL3 hypobetalipoproteinemia, familial hypobetalipoproteinemia 2, familial hypobetalipoproteinemia type 2, FHBL2, hypobetalipoproteinemia caused by mutation in ANGPTL3, hypobetalipoproteinemia, familial, type 2 — per MONDO