loading...| Preferred Name |
Dihydropyrimidine Dehydrogenase Deficiency |
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| Synonyms |
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|
| Definitions |
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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| ID |
http://purl.obolibrary.org/obo/NCIT_C84672 |
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| code |
C84672 |
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| Contributing_Source |
CTRP |
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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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| Display_Name |
Dihydropyrimidine Dehydrogenase Deficiency |
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| in_subset |
http://purl.obolibrary.org/obo/NCIT_C116977 |
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| label |
Dihydropyrimidine Dehydrogenase Deficiency |
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| Preferred_Name |
Dihydropyrimidine Dehydrogenase Deficiency |
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| prefixIRI |
NCIT:C84672 |
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| prefLabel |
Dihydropyrimidine Dehydrogenase Deficiency |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C1959620 |
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| subClassOf |