Search Ontology:
Human Disease

familial lipoprotein lipase deficiency

Term ID
DOID:14118
Synonyms
  • familial hyperlipoproteinemia type I
  • familial LPL deficiency
  • Fredrickson type I hyperlipoproteinemia
  • Fredrickson type I lipaemia
  • hypercholesterinaemic xanthomatosis
  • hyperchylomicronemia
  • mixed hyperglyceridemia
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
  • GARD:12241
  • ICD10CM:E78.3
  • ICD9CM:272.3
  • MESH:D008072
  • MIM:238600
  • NCI:C84771
  • ORDO:309015
  • SNOMEDCT_US_2023_03_01:34171006
  • UMLS_CUI:C0023817
Ontology
Human Disease   ( DOID:14118 )
Relationships
is a type of
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Genes Involved
Zebrafish Models