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Disease Purine-Pyrimidine Metabolism, Inborn Errors

Name Purine-Pyrimidine Metabolism, Inborn Errors
Synonym Purine Pyrimidine Metabolism, Inborn Errors
Definition Dysfunctions in the metabolism of PURINES or PYRIMIDINES resulting from inborn genetic mutations that are inherited or acquired in utero.
Categories Genetic disease (inborn) | Metabolic disease
MeSH® ID D011686

Top ↑ Ancestors

1. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Purine-Pyrimidine Metabolism, Inborn Errors Has associated chemicals Has associated genes
2. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Purine-Pyrimidine Metabolism, Inborn Errors Has associated chemicals Has associated genes

Top ↑ Descendants

Purine-Pyrimidine Metabolism, Inborn Errors Has associated chemicals Has associated genes
  Adenosine monophosphate deaminase deficiency Has associated chemicals Has associated genes
  Adenylosuccinate lyase deficiency Has associated chemicals Has associated genes
  Beta-Ureidopropionase Deficiency Has associated chemicals Has associated genes
View node Dihydropyrimidine Dehydrogenase Deficiency Has associated chemicals Has associated genes
View node Gout Has associated chemicals Has associated genes
  Hyperuricemia, Infantile, with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase
View node Lesch-Nyhan Syndrome Has associated chemicals Has associated genes
  Methylmalonate Semialdehyde Dehydrogenase Deficiency Has associated chemicals Has associated genes
  Oroticaciduria 1 Has associated chemicals Has associated genes
  Orotic Aciduria II
  Phosphoribosylpyrophosphate synthetase deficiency
  Phosphoribosylpyrophosphate Synthetase Superactivity Has associated chemicals Has associated genes
  Pseudouridinuria and Mental Defect
  Purine Nucleoside Phosphorylase Deficiency Has associated chemicals Has associated genes
  Thiopurine S methyltranferase deficiency Has associated chemicals Has associated genes
  Xanthinuria, Type II Has associated chemicals Has associated genes