Autosomal Recessive Hypercholesterolemia
Disease ID: disease_node_16844
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| Dbxref | ICD10CM:E78.0, MIM:603813, ORDO:391665 |
|---|---|
| Subclassof | DOID_13810 |
| Data Source | DOID |
| Synonyms | ARH, ARH1, ARH2, FHCB1, FHCB2, autosomal recessive hypercholesterolemia 1, autosomal recessive hypercholesterolemia 2, familial autosomal recessive hypercholesterolemia |
| Doid Label | autosomal recessive hypercholesterolemia |
| Doid Description | 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 Node Id | disease_node_16844 |
| Doid Id | DOID_0090105 |
| Disease Has Basis In | SO_0001537 |
| Label | Autosomal Recessive Hypercholesterolemia |
- Outgoing r'ship
SUBCLASS_OFto/from Hyperlipoproteinemia Type Ii(ID:disease_node_4084) (Disease)