. . . . . . . "[Lesch-Nyhan syndrome (LSN, McKusick 300322) is an X-linked genetic disease due, in its typical form, to the complete absence of hypoxanthine-guanine phosphoribosyltransferase (HPRT, EC 2.4.2.8) enzyme activity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2017-02-19"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:16:24+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .