| 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 | |
| Subsets |
DO_rare_slim |
| 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 | |
| Subclass Logical Relationships |
disease has basis in some structural_variant |