FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term familial hyperlipidemia ID (Ontology) DOID:1168 (Human Disease)
Definition
Also Known As "familial hyperlipoproteinemia" ; "hyperlipemia"
Comment
Links to External Ontologies
DO.org
Annotations
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Spanning Tree (Parents/Children)
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  inherited metabolic disorder
   |__lipid metabolism disorder
       |__familial hyperlipidemia  21 rec.
           |__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.
           |__familial combined hyperlipidemia 17 rec.
           |__familial hypercholesterolemia 4 rec.
           |   |__autosomal recessive hypercholesterolemia 1 rec.
           |__hyperlipoproteinemia type III
           |__hyperlipoproteinemia type IV
           |__hyperlipoproteinemia type V
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Is a lipid metabolism disorder
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Synonyms
  • "familial hyperlipoproteinemia" EXACT
    "hyperlipemia" EXACT
    "hyperlipidaemia" RELATED
Secondary IDs
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ICD10CM:E78.5
MESH:D006949
MESH:D006951
NCI:C34707
NCI:C34709
SNOMEDCT_US_2023_03_01:154739000
SNOMEDCT_US_2023_03_01:3744001
UMLS_CUI:C0020473
UMLS_CUI:C0020476