familial GPIHBP1 deficiency (DOID:0111420)
Alliance: disease page
Synonyms: familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency; hyperlipoproteinemia type 1D; hyperlipoproteinemia type ID
Alt IDs: OMIM:615947, ORDO:535458
Definition: A familial chylomicronemia syndrome characterized by refactory fasting hyperchylomicronemia, and elevated plasma triglyceride levels that has_material_basis_in homozygous or compound heterozygous mutation in the GPIHBP1 gene on chromosome 8q24.3.