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GENATLAS PHENOTYPE
last update : 31/05/2006
Symbol XDH1
Location 2p23.1
Name xanthinuria type I
Other name(s) xanthine dehydrogenase deficiency
Corresponding gene XDH
Main clinical features
  • by excretion of large amounts of xanthine in the urine and a tendency to form xanthine stones
  • Genetic determination
    Function/system disorder metabolism/purine or pyrimidine
    Type disease
    Gene product
    Name xanthine dehydrogenase (XDH)
    Remark(s)