| Metadata | |
|---|---|
| ID | DOID:0111418 |
| Name | familial apolipoprotein C-II deficiency |
| 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 |
| Xrefs |
SNOMEDCT_US_2023_03_01:33513003 |
| Subsets |
DO_rare_slim |
| Synonyms |
C-II anapolipoproteinemia [EXACT] familial apoC-II deficiency [EXACT] familial APOC2 deficiency [EXACT] hyperlipoproteinemia, type 1b [EXACT] hyperlipoproteinemia, type Ib [EXACT] |
| Parent Relationships |