| Metadata | |
|---|---|
| ID | DOID:14118 |
| Name | familial lipoprotein lipase deficiency |
| Definition | A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides. https://pubmed.ncbi.nlm.nih.gov/35415234/, https://rarediseases.org/rare-diseases/familial-lipoprotein-lipase-deficiency/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:34171006 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
familial chylomicronemia syndrome [EXACT] familial hyperlipoproteinemia type I [EXACT] familial LPL deficiency [EXACT] Fredrickson type I hyperlipoproteinemia [EXACT] Fredrickson type I lipaemia [EXACT] hypercholesterinaemic xanthomatosis [EXACT] hyperchylomicronemia [EXACT] mixed hyperglyceridemia [EXACT] |
| Parent Relationships |