Human genes for familial lipase maturation factor 1 deficiency
Familial lipase maturation factor 1 deficiency [DOID:0111422]
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.
Synonyms: familial lipase maturation factor 1 deficiency, DOID:0111422, hereditary lipase maturation factor 1 deficiency, combined lipase deficiency, familial LMF1 deficiency ...