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DO Term : familial lipase maturation factor 1 deficiency [DOID:0111422] Disease Ontology

Namespace

disease_ontology

Obsolete

false

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.

synonyms:
familial LMF1 deficiency,
246650,
OMIM:246650,
LPL and HTGL deficiency,
lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency,
combined lipase deficiency,
LPL and HL deficiency,
ORDO:535453

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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