Search Ontology:
Human Disease
autosomal recessive hypercholesterolemia
- Term ID
- DOID:0090105
- Synonyms
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- ARH
- ARH1
- ARH2
- autosomal recessive hypercholesterolemia 1
- autosomal recessive hypercholesterolemia 2
- familial autosomal recessive hypercholesterolemia
- FHCB1
- FHCB2
- 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. (2)
- References
-
- ICD10CM:E78.0
- MIM:603813
- ORDO:391665
- Ontology
- Human Disease ( DOID:0090105 )
- is a type of
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Genes Involved
Zebrafish Models