FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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Term familial chylomicronemia syndrome ID (Ontology) DOID:0111417 (Human Disease)
Definition A familial hyperlipidemia characterized by hypertriglyceridemia and fasting chylomicronemia.
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  lipid metabolism disorder
   |__familial hyperlipidemia
       |__familial chylomicronemia syndrome  17 rec.
           |__familial apolipoprotein A5 deficiency
           |__familial apolipoprotein C-II deficiency
           |__familial chylomicronemia due to inhibition of lipoprotein lipase activity
           |__familial GPIHBP1 deficiency
           |__familial lipase maturation factor 1 deficiency
           |__familial lipoprotein lipase deficiency 17 rec.
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Is a familial hyperlipidemia
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ORDO:444490