familial apolipoprotein C-II deficiency

Summary

DOID:0111418 - familial apolipoprotein C-II deficiency

Disease Ontology 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.

Synonyms: C-II anapolipoproteinemia, familial APOC2 deficiency, familial apoC-II deficiency, hyperlipoproteinemia, type 1b, hyperlipoproteinemia, type Ib

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: apoc2

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), familial chylomicronemia syndrome (is_a)