loading...| Preferred Name |
Dihydropyrimidine Dehydrogenase Deficiency [Disease/Finding] |
|
| Synonyms |
Pyrimidinemia, Familial |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000181263 |
|
| altLabel |
Pyrimidinemia, Familial Thymine-Uraciluria, Hereditary DPD Deficiency Familial Pyrimidinemia Dihydropyrimidine Dehydrogenase Deficiency Familial Pyrimidemia Hereditary Thymine-Uraciluria |
|
| cui |
C1959620 |
|
| MESH DEFINITION |
An autosomal recessive disorder affecting DIHYDROPYRIMIDINE DEHYDROGENASE and causing familial pyrimidinemia. It is characterized by thymine-uraciluria in homozygous deficient patients. Even a partial deficiency in the enzyme leaves individuals at risk for developing severe 5-FLUOROURACIL-associated toxicity. |
|
| MESH DUI |
D054067 |
|
| MeSH name |
Dihydropyrimidine Dehydrogenase Deficiency |
|
| MESH UI |
M0500884 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000181263 |
|
| NUI |
N0000181263 |
|
| prefLabel |
Dihydropyrimidine Dehydrogenase Deficiency [Disease/Finding] |
|
| tui |
T047 |
|
| subClassOf |