Search Ontology:
Human Disease

familial apolipoprotein C-II deficiency

Term ID
DOID:0111418
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. https://www.ncbi.nlm.nih.gov/pubmed/3467353
References
Ontology
Human Disease   ( DOID:0111418 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models