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Disease Ontology Browser
familial hypercholesterolemia (DOID:13810)
Alliance: disease page
Synonyms: familial hyperbetalipoproteinaemia; familial hypercholesteremia; Fredrickson type IIa hyperlipoproteinemia; Fredrickson type IIa lipidaemia; hyperbetalipoproteinemia; type II hyperlipidemia
Alt IDs: OMIM:143890, ICD10CM:E78.01, MESH:D006938, NCI:C34704, ORDO:406, UMLS_CUI:C0020445
Definition: A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease.

Disease References using Mouse Models (10)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
04/16/2024
MGI 6.23 		The Jackson Laboratory