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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, 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 APOC2 on chromosome 19q13.32.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
11/26/2019
MGI 6.14
The Jackson Laboratory