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familial hypercholesterolemia
Disease Summary
Associated Targets (23)
Tbio
11
Tchem
7
Tclin
5
Mondo Description An inheritable form of hyperlipidemia, in which there are excess lipids in the blood.
Uniprot Description A common autosomal dominant disorder characterized by elevated serum low-density lipoprotein (LDL) cholesterol levels, which result in excess deposition of cholesterol in tissues and leads to xanthelasma, xanthomas, accelerated atherosclerosis and increased risk of premature coronary heart disease. The disorder occurs in 2 clinical forms: a mild form that becomes evident in the fourth or fifth decade in individuals carrying heterozygous LDLR mutations; a more severe form that usually manifests in the first two decades of life in individuals with homozygous LDLR mutations.
Disease Ontology Description A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:13810
EFO:0004911
NCIT:C34704
OMIMPS:143890
SCTID:190773008
UMLS:CN118841
MONDO:0005439
High level summary of knowledge for a disease, including descriptions and datasource references.