| Metadata | |
|---|---|
| ID | DOID:0111421 |
| Name | familial apolipoprotein A5 deficiency |
| Definition | A familial chylomicronemia syndrome characterized by hyperchylomicronemia, elevated levels of very low density lipoprotein, and decreased LDL and HDL levels after fasting that has_material_basis_in heterozygous mutation in the APOA5 gene on chromosome 11q23.3. https://www.ncbi.nlm.nih.gov/pubmed/16200213, https://www.ncbi.nlm.nih.gov/pubmed/23525082 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
familial APOA5 deficiency [EXACT] familial apolipoprotein A-V deficiency [EXACT] |
| Parent Relationships |