Term Name: | familial apolipoprotein C-II deficiency |
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Synonyms: | C-II anapolipoproteinemia, familial apoC-II deficiency, familial APOC2 deficiency, hyperlipoproteinemia, type 1b, hyperlipoproteinemia, type Ib |
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. |
Ontology: | Human Disease [DOID:0111418] ( DOID:0111418 ) |