Lesch-Nyhan syndrome

created [InstanceEdit:9734161] D'Eustachio, Peter, 2021-06-15
databaseName DOID
dbId 9734170
displayName Lesch-Nyhan syndrome
identifier 1919
name
  • Lesch-Nyhan syndrome
referenceDatabase [ReferenceDatabase:1247631] DOID
schemaClass Disease
synonym
  • Lesch - Nyhan syndrome
  • X-linked hyperuricemia
  • hypoxanthine guanine phosphoribosyltransferase deficiency
  • HG-PRT deficiency
  • deficiency of IMP pyrophosphorylase
  • Complete hypoxanthine-guanine phosphoribosyltransferase deficiency
  • Hypoxanthine-guanine phosphoribosyltransferase deficiency
  • Hypoxanthine-guanine-phosphoribosyltransferase deficiency
url https://www.ebi.ac.uk/ols/ontologies/doid/terms?obo_id=DOID:1919
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