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DO Term : familial lipoprotein lipase deficiency [DOID:14118] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides.

synonyms:
Fredrickson type I lipaemia,
mixed hyperglyceridemia,
ICD9CM:272.3,
238600,
MESH:D008072,
ORDO:309015,
NCI:C84771,
ICD10CM:E78.3,
hyperchylomicronemia,
SNOMEDCT_US_2023_03_01:34171006,
hypercholesterinaemic xanthomatosis,
OMIM:238600,
familial hyperlipoproteinemia type I,
GARD:12241,
UMLS_CUI:C0023817,
Fredrickson type I hyperlipoproteinemia,
familial LPL deficiency

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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