Id http://purl.bioontology.org/ontology/CSP/1849-4634
http://purl.bioontology.org/ontology/CSP/1849-4634
Preferred Name

familial hyperlipoproteinemia type II

Definitions
characterized by increased plasma concentration of cholesterol carried in low density lipoproteins (LDL) and by a deficiency in a cell surface receptor which regulates LDL degradation and cholesterol synthesis.
Synonyms
familial hypercholesteremia
familial hyperbetalipoproteinemia
xanthoma tuberosum multiplex
Type http://www.w3.org/2002/07/owl#Class
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