FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term purine-pyrimidine metabolic disorder ID (Ontology) DOID:653 (Human Disease)
Definition An inherited metabolic disorder involving dysfunction of purine and pyrimidine metabolism.
Also Known As "inborn errors of purine-pyrimidine metabolism"
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Data Class Field Records
Human Disease Models (FBhh)  DOID       1
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 Genes Human Disease Models
 purine-pyrimidine metabolic disorder       1      1
Spanning Tree (Parents/Children)
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disease of metabolism__
genetic disease________|
                       inherited metabolic disorder
                        |__purine-pyrimidine metabolic disorder  26 rec.
                            |__adenine phosphoribosyltransferase deficiency 1 rec.
                            |__dihydropyrimidine dehydrogenase deficiency 1 rec.
                            |__Lesch-Nyhan syndrome 5 rec.
                            |__xanthinuria 19 rec.
                                |__xanthinuria type I 6 rec.
                                |__xanthinuria type II 1 rec.
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Is a inherited metabolic disorder
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Synonyms
  • "inborn errors of purine-pyrimidine metabolism" EXACT
Secondary IDs
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ICD10CM:E79.8
ICD9CM:277.2
SNOMEDCT_US_2023_03_01:190917005
UMLS_CUI:C0029595