|
| General Information | |||
|---|---|---|---|
| Term | familial lipase maturation factor 1 deficiency | ID (Ontology) | DOID:0111422 (Human Disease) |
| 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. | ||
| Also Known As | "combined lipase deficiency" ; "familial LMF1 deficiency" ; "lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency" (for all, see Synonyms field below) | ||
| Comment | |||
| Links to External Ontologies | |||
| DO.org | |||
| Annotations | |||
| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
|||
|
No relevant statements available
|
|||
|
||||||
autosomal genetic disease |__autosomal recessive disease________ familial hyperlipidemia | |__familial chylomicronemia syndrome__| familial lipase maturation factor 1 deficiency |
| Spanning Tree View Settings | |||
|---|---|---|---|
| Parents/Children View Depth |
|||
Relationships
|
|||
| Is a |
autosomal recessive disease familial chylomicronemia syndrome |
||
| Part of | |||
|
Synonyms & Secondary IDs
|
|||
| Synonyms | |||
|
|||
| Secondary IDs | |||
|
|
|||
|
External Crossreferences & Linkouts
|
|||
|
MIM:246650 ORDO:535453 |
|||