Preferred Name |
familial lipoprotein lipase deficiency |
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Synonyms |
familial chylomicronemia syndrome |
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Definitions |
OMIM mapping confirmed by DO. [SN]. 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. |
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ID |
http://purl.obolibrary.org/obo/DOID_14118 |
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comment |
OMIM mapping confirmed by DO. [SN]. |
|
database_cross_reference |
ICD9CM:272.3 ORDO:309015 SNOMEDCT_US_2023_03_01:34171006 OMIM:238600 UMLS_CUI:C0023817 MESH:D008072 ICD10CM:E78.3 GARD:12241 NCI:C84771 |
|
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. |
|
has exact synonym |
familial chylomicronemia syndrome mixed hyperglyceridemia Fredrickson type I hyperlipoproteinemia familial hyperlipoproteinemia type I familial LPL deficiency hypercholesterinaemic xanthomatosis Fredrickson type I lipaemia hyperchylomicronemia |
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has material basis in | ||
has_obo_namespace |
disease_ontology |
|
id |
DOID:14118 |
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in_subset | ||
label |
familial lipoprotein lipase deficiency |
|
notation |
DOID:14118 |
|
prefLabel |
familial lipoprotein lipase deficiency |
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subClassOf |