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| Term | familial lipoprotein lipase deficiency | ID (Ontology) | DOID:14118 (Human Disease) |
| 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. | ||
| Also Known As | "familial hyperlipoproteinemia type I" ; "familial LPL deficiency" ; "Fredrickson type I hyperlipoproteinemia" (for all, see Synonyms field below) | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease________ familial hyperlipidemia | |__familial chylomicronemia syndrome__| familial lipoprotein lipase deficiency 17 rec. |
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| Is a |
autosomal recessive disease familial chylomicronemia syndrome |
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GARD:12241 ICD10CM:E78.3 ICD9CM:272.3 MESH:D008072 MIM:238600 NCI:C84771 ORDO:309015 SNOMEDCT_US_2023_03_01:34171006 UMLS_CUI:C0023817 |
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