Preferred Name |
Dihydropyrimidine Dehydrogenase Deficiency |
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Synonyms |
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ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Dihydropyrimidine_Dehydrogenase_Deficiency |
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DEFINITION |
A rare disorder characterized by an inborn error in pyrimidine metabolism. It results in the deficiency or complete absence of the enzyme dihydropyrimidine dehydrogenase. Individuals with this disorder may develop a severe toxicity reaction if they are exposed to the chemotherapeutic agent 5-fluorouracil. |
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FULL_SYN |
DPD Deficiency |
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isDefinedBy |
A rare disorder characterized by an inborn error in pyrimidine metabolism. It results in the deficiency or complete absence of the enzyme dihydropyrimidine dehydrogenase. Individuals with this disorder may develop a severe toxicity reaction if they are exposed to the chemotherapeutic agent 5-fluorouracil. |
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label |
Dihydropyrimidine Dehydrogenase Deficiency |
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prefixIRI |
Thesaurus:Dihydropyrimidine_Dehydrogenase_Deficiency |
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prefLabel |
Dihydropyrimidine Dehydrogenase Deficiency |
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Synonym |
DPD Deficiency |
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subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Rare_Non-Neoplastic_Disorder http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Inborn_Errors_of_Metabolism |