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Standards Ontologies Notations
purine-pyrimidine metabolic disorder

Summary
Synonym
  • inborn errors of purine-pyrimidine metabolism
Definition
An inherited metabolic disorder involving dysfunction of purine and pyrimidine metabolism.
Super Class
inherited metabolic disorder
Disease Ontology
DOID:653
UMLS
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
471 ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
4860 PNP purine nucleoside phosphorylase
7372 UMPS uridine monophosphate synthetase
Displaying all 3 entries
Gene ID Gene Symbol Description Source
18950 Pnp purine-nucleoside phosphorylase
22247 Umps uridine monophosphate synthetase
64705 Dpys dihydropyrimidinase
Displaying 1 entry
Gene ID Gene Symbol Description Source
42493 r-l rudimentary-like
Displaying all 2 entries
Gene ID Gene Symbol Description Source
172008 R12E2.11 Orotate phosphoribosyltransferase
176453 umps-1 Orotidine 5'-phosphate decarboxylase
Displaying 1 entry
Gene ID Gene Symbol Description Source
850906 PNP1 purine-nucleoside phosphorylase
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024