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ENPurine-Pyrimidine Metabolic Disorder
Alias:
Inborn Errors of Purine-Pyrimidine Metabolism
Disorder of Purine or Pyrimidine Metabolism
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Purine-Pyrimidine Metabolic Disorder, also known as inborn errors of purine-pyrimidine metabolism, is related to dihydropyrimidine dehydrogenase deficiency and lesch-nyhan syndrome. An important gene associated with Purine-Pyrimidine Metabolic Disorder is HPRT1 (Hypoxanthine Phosphoribosyltransferase 1), and among its related pathways/superpathways are Metabolism and Metabolism of nucleotides. Related phenotypes are renal/urinary system and homeostasis/metabolism
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MALACARDS
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MGI
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