loading...| Preferred Name |
familial lipoprotein lipase deficiency |
|
| Synonyms |
familial chylomicronemia syndrome |
|
| 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. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_14118 |
|
| comment |
OMIM mapping confirmed by DO. [SN]. |
|
| database_cross_reference |
SNOMEDCT_US_2020_03_01:34171006 ICD9CM:272.3 ORDO:309015 OMIM:238600 UMLS_CUI:C0023817 MESH:D008072 ICD10CM:E78.3 GARD:12241 NCI:C84771 |
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| 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 |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:14118 |
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| imported from | ||
| in_subset | ||
| label |
familial lipoprotein lipase deficiency |
|
| notation |
DOID:14118 |
|
| prefLabel |
familial lipoprotein lipase deficiency |
|
| textual 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. |
|
| subClassOf |
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