OBO ID: DOID:14118
Term Name: familial lipoprotein lipase deficiency Search Ontology:
Synonyms:
  • familial chylomicronemia syndrome
  • 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
  • NCI:C84771
  • OMIM:238600
  • ORDO:309015
  • SNOMEDCT_US_2021_03_01:34171006
  • UMLS_CUI:C0023817
Ontology: Human Disease   (DOID:14118)
OTHER familial lipoprotein lipase deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
LPL Lipoprotein lipase deficiency 238600
[High density lipoprotein cholesterol level QTL 11] 238600
ZEBRAFISH MODELS
Fish Conditions Citations
apoc2sd38/sd38(AB) standard conditions Liu et al., 2017
PHENOTYPE No data available

CITATIONS (1)