Metadata | |
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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 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 |