Term Name: familial lipase maturation factor 1 deficiency
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.
Ontology: Human Disease [DOID:0111422]   ( DOID:0111422 )

Relationships
is a type of: autosomal recessive disease familial chylomicronemia syndrome