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Metadata
ID DOID:14118
Name familial lipoprotein lipase deficiency
Definition 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.
http://fcs.raredr.com, https://rarediseases.org/rare-diseases/familial-lipoprotein-lipase-deficiency/
Xrefs

GARD:12241

ICD10CM:E78.3

ICD9CM:272.3

MESH:D008072

NCI:C84771

OMIM:238600

ORDO:309015

SNOMEDCT_US_2020_03_01:34171006

UMLS_CUI:C0023817

Subsets

NCIthesaurus

Synonyms

familial chylomicronemia syndrome [EXACT]

familial hyperlipoproteinemia type I [EXACT]

familial LPL deficiency [EXACT]

Fredrickson type I hyperlipoproteinemia [EXACT]

Fredrickson type I lipaemia [EXACT]

hypercholesterinaemic xanthomatosis [EXACT]

hyperchylomicronemia [EXACT]

mixed hyperglyceridemia [EXACT]

Parent Relationships

is_a familial chylomicronemia syndrome

is_a autosomal recessive disease

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