Mondo Description Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the ANGPTL3 gene.

Uniprot Description A disorder of lipid metabolism characterized by less than 5th percentile age- and sex-specific levels of low density lipoproteins, and dietary fat malabsorption. Affected individuals present with combined hypolipidemia, consisting of extremely low plasma levels of LDL cholesterol, HDL cholesterol, and triglycerides.