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Metadata
ID DOID:0090105
Name autosomal recessive hypercholesterolemia
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.
https://ghr.nlm.nih.gov/condition/hypercholesterolemia, https://www.omim.org/entry/603813
Xrefs

ICD10CM:E78.0

OMIM:603813

ORDO:391665

Synonyms

ARH [EXACT]

ARH1 [EXACT]

ARH2 [EXACT]

autosomal recessive hypercholesterolemia 1 [EXACT]

autosomal recessive hypercholesterolemia 2 [EXACT]

familial autosomal recessive hypercholesterolemia [EXACT]

FHCB1 [EXACT]

FHCB2 [EXACT]

Parent Relationships

is_a familial hypercholesterolemia

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