FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term familial hypercholesterolemia ID (Ontology) DOID:13810 (Human Disease)
Definition A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease.
Also Known As "familial hyperbetalipoproteinaemia" ; "familial hypercholesteremia" ; "Fredrickson type IIa hyperlipoproteinemia" (for all, see Synonyms field below)
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 Genes
 familial hypercholesterolemia       3
 for disease ribbon | familial hypercholesterolemia       3
 model of | familial hypercholesterolemia       3
Spanning Tree (Parents/Children)
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  lipid metabolism disorder
   |__familial hyperlipidemia
       |__familial hypercholesterolemia  4 rec.
           |__autosomal recessive hypercholesterolemia 1 rec.
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Is a familial hyperlipidemia
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Synonyms
  • "familial hyperbetalipoproteinaemia" EXACT
    "familial hypercholesteremia" EXACT
    "Fredrickson type IIa hyperlipoproteinemia" EXACT
    "Fredrickson type IIa lipidaemia" EXACT
    "hyperbetalipoproteinemia" EXACT
    "type II hyperlipidemia" EXACT
Secondary IDs
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GARD:10416
ICD10CM:E78.01
MESH:D006938
MIM:143890
NCI:C34704
ORDO:406
SNOMEDCT_US_2023_03_01:190772003
UMLS_CUI:C0020445