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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.
Mondo Term and Equivalent IDs
MONDO:0005439:  familial hypercholesterolemia
EFO:0004911: 
NCIT:C34704: 
OMIMPS:143890: 
SCTID:190773008: 
UMLS:CN118841: