Search Ontology:
Human Disease
familial lipase maturation factor 1 deficiency
- Term ID
- DOID:0111422
- Synonyms
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- 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
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- MIM:246650
- ORDO:535453
- Ontology
- Human Disease ( DOID:0111422 )
- is a type of
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