loading...| Preferred Name |
Dihydropyrimidine dehydrogenase deficiency |
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| Synonyms |
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| Definitions |
(DPYDD): A metabolic disorder with large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and mental retardation. It is characterized by persistent urinary excretion of excessive amounts of uracil, thymine and 5-hydroxymethyluracil. Patients suffering from this disease show a severe reaction to the anticancer drug 5- fluorouracil. |
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| ID |
http://purl.obolibrary.org/obo/OMIM_274270 |
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| definition |
(DPYDD): A metabolic disorder with large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and mental retardation. It is characterized by persistent urinary excretion of excessive amounts of uracil, thymine and 5-hydroxymethyluracil. Patients suffering from this disease show a severe reaction to the anticancer drug 5- fluorouracil. |
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| has_obo_namespace |
cell_cycle_ontology |
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| id |
OMIM:274270 |
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| label |
Dihydropyrimidine dehydrogenase deficiency |
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| notation |
OMIM:274270 |
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| prefLabel |
Dihydropyrimidine dehydrogenase deficiency |
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| subClassOf |