Search Ontology:
Human Disease
familial lipoprotein lipase deficiency
- Term ID
- DOID:14118
- Synonyms
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- familial hyperlipoproteinemia type I
- familial LPL deficiency
- Fredrickson type I hyperlipoproteinemia
- 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. (2)
- References
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- GARD:12241
- ICD10CM:E78.3
- ICD9CM:272.3
- Ontology
- Human Disease ( DOID:14118 )
- is a type of
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