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Pathways
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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
adenosine monophosphate deaminase deficiency pathway  
adenylosuccinate lyase deficiency pathway  
dihydropyrimidinase deficiency pathway  
dihydropyrimidine dehydrogenase deficiency pathway  
Lesch-Nyhan syndrome pathway  
methylmalonate semialdehyde dehydrogenase deficiency pathway  
orotic aciduria pathway +   
purine nucleoside phosphorylase deficiency pathway  
xanthinuria pathway +   
Xanthinuria is a rare genetic disorder due to alterations in the purine metabolic pathway causing accumulation of xanthine and resulting in a range of symptoms. There are two types of disorders with similar clinical manifestations.

Synonyms
Exact Synonyms: xanthine dehydrogenase deficiency pathway ;   xanthinuria disease pathway
Related Synonyms: SMP:00220 ;   xanthine oxidase deficiency
Definition Sources: PMID:23203137

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