familial apolipoprotein C-II deficiency (DOID:0111418)
Alliance: disease page
Synonyms: C-II anapolipoproteinemia; familial APOC2 deficiency; familial apoC-II deficiency; hyperlipoproteinemia, type 1b; hyperlipoproteinemia, type Ib
Alt IDs: OMIM:207750, MESH:D008072, ORDO:309020, UMLS_CUI:C0268199, UMLS_CUI:C1720779
Definition: A familial chylomicronemia syndrome characterized by onset in adolescence or adulthood of hypertriglyceridemia and fasting chylomicronemia that has_material_basis_in homozygous or compound heterozygous mutation in the APOC2 gene on chromosome 19q13.32.