Familial Lipase Maturation Factor 1 Deficiency
Disease ID: disease_node_16846
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| Dbxref | MIM:246650, ORDO:535453 |
|---|---|
| Subclassof | DOID_0050737, DOID_0111417 |
| Data Source | DOID |
| Synonyms | LPL and HL deficiency, LPL and HTGL deficiency, combined lipase deficiency, familial LMF1 deficiency, lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency |
| Doid Label | familial lipase maturation factor 1 deficiency |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16846 |
| Doid Id | DOID_0111422 |
| Label | Familial Lipase Maturation Factor 1 Deficiency |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Familial Chylomicronemia Syndrome(ID:disease_node_16845) (Disease)