Term Name: | familial lipase maturation factor 1 deficiency |
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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 ) |