OBO ID: DOID:0111422
Term Name: familial lipase maturation factor 1 deficiency Search Ontology:
Synonyms:
  • combined lipase deficiency
  • familial LMF1 deficiency
  • lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency
  • LPL and HL deficiency
  • LPL and HTGL deficiency
Definition: A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, and decreased lipase activity that has_material_basis_in homozygous mutation in LMF1 on chromosome 16p13.3. (2)
References:
Ontology: Human Disease   (DOID:0111422)
OTHER familial lipase maturation factor 1 deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
LMF1 Lipase deficiency, combined 246650
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None