OBO ID: DOID:0090105 |
Term Name: | autosomal recessive hypercholesterolemia | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0090105 ) |
OTHER autosomal recessive hypercholesterolemia PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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