FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term autosomal recessive hypercholesterolemia ID (Ontology) DOID:0090105 (Human Disease)
Definition A familial hypercholesterolemia that is characterized by very high levels of low-density lipoprotein (LDL) cholesterol (usually above 400 mg/dl) and increased risk of premature atherosclerotic cardiovascular disease, and has_material_basis_in autosomal recessive homozygous mutation in the low density lipoprotein receptor adaptor protein 1 gene (LDLRAP1) on chromosome 1p36.
Also Known As "ARH" ; "ARH1" ; "ARH2" (for all, see Synonyms field below)
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 Genes
 autosomal recessive hypercholesterolemia       1
 for disease ribbon | autosomal recessive hypercholesterolemia       1
 model of | autosomal recessive hypercholesterolemia       1
Spanning Tree (Parents/Children)
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  familial hyperlipidemia
   |__familial hypercholesterolemia
       |__autosomal recessive hypercholesterolemia  1 rec.
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Is a familial hypercholesterolemia
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Synonyms
  • "ARH" EXACT OMO:0003012
    "ARH1" EXACT OMO:0003012
    "ARH2" EXACT OMO:0003012
    "autosomal recessive hypercholesterolemia 1" EXACT
    "autosomal recessive hypercholesterolemia 2" EXACT
    "familial autosomal recessive hypercholesterolemia" EXACT
    "FHCB1" EXACT OMO:0003012
    "FHCB2" EXACT OMO:0003012
Secondary IDs
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ICD10CM:E78.0
MIM:603813
ORDO:391665