Term Name: | familial hypercholesterolemia |
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Synonyms: | familial hyperbetalipoproteinaemia, familial hypercholesteremia, Fredrickson type IIa hyperlipoproteinemia, Fredrickson type IIa lipidaemia, hyperbetalipoproteinemia, type II hyperlipidemia |
Definition: | A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease. |
Ontology: | Human Disease [DOID:13810] ( DOID:13810 ) |