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| Term | familial apolipoprotein C-II deficiency | ID (Ontology) | DOID:0111418 (Human Disease) |
| 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. | ||
| Also Known As | "C-II anapolipoproteinemia" ; "familial apoC-II deficiency" ; "familial APOC2 deficiency" (for all, see Synonyms field below) | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease________ familial hyperlipidemia | |__familial chylomicronemia syndrome__| familial apolipoprotein C-II deficiency |
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| Is a |
autosomal recessive disease familial chylomicronemia syndrome |
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External Crossreferences & Linkouts
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MESH:D008072 MIM:207750 ORDO:309020 SNOMEDCT_US_2023_03_01:33513003 UMLS_CUI:C0268199 UMLS_CUI:C1720779 |
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