autosomal recessive hypercholesterolemia Disease Ontology Browser

Disease Ontology Browser

autosomal recessive hypercholesterolemia (DOID:0090105)
Alliance: disease page
Synonyms: ARH; ARH1; ARH2; autosomal recessive hypercholesterolemia 1; autosomal recessive hypercholesterolemia 2; familial autosomal recessive hypercholesterolemia; FHCB1; FHCB2
Alt IDs: OMIM:603813, ICD10CM:E78.0, ORDO:391665
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.

Disease References using Mouse Models (2)

Allelic Composition	Genetic Background	Reference	Phenotypes
Ldlrap1tm1Her/Ldlrap1tm1Her	involves: 129S6/SvEvTac	J:84694	View
Ldlrap1Gt(OST149604)Lex/Ldlrap1Gt(OST149604)Lex	involves: 129S5/SvEvBrd * C57BL/6	J:102291	View

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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