ZFIN Human Disease: familial lipase maturation factor 1 deficiency

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 the LMF1 gene on chromosome 16p13.3. (2)
References:	OMIM:246650 ORDO:535453
Ontology:	Human Disease ( DOID:0111422 )

Relationships

is a type of:	autosomal recessive disease familial chylomicronemia syndrome autosomal recessive disease familial chylomicronemia syndrome Show first 5 Terms

OTHER familial lipase maturation factor 1 deficiency PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
LMF1	lmf1	Lipase deficiency, combined	246650

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None