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Disease Ontology Browser
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.

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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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory