Cerebrotendinous xanthomatosis.
D001921:Brain / Q000378:metabolism; D002784:Cholesterol / Q000378:metabolism; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000378:metabolism*; D013710:Tendons / Q000378:metabolism; D014973:Xanthomatosis / Q000378:metabolism*
D002784:Cholesterol