| Metadata | |
|---|---|
| ID | DOID:0111422 |
| Name | familial lipase maturation factor 1 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. https://www.ncbi.nlm.nih.gov/pubmed/17994020, https://www.ncbi.nlm.nih.gov/pubmed/23525082 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
combined lipase deficiency [EXACT] familial LMF1 deficiency [EXACT] lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency [EXACT] LPL and HL deficiency [EXACT] LPL and HTGL deficiency [EXACT] |
| Parent Relationships |