loading...| Preferred Name |
dihydropyrimidine dehydrogenase deficiency |
|
| Synonyms |
thymine-uracilurea |
|
| Definitions |
A purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_14218 |
|
| database_cross_reference |
UMLS_CUI:C3495551 UMLS_CUI:C1959620 SNOMEDCT_US_2023_03_01:238016000 MESH:D054067 GARD:19 MIM:274270 NCI:C84672 |
|
| definition |
A purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine. |
|
| has exact synonym |
thymine-uracilurea Dihydrouracil Dehydrogenase deficiency familial pyrimidinaemia |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:14218 |
|
| in_subset | ||
| label |
dihydropyrimidine dehydrogenase deficiency |
|
| notation |
DOID:14218 |
|
| prefLabel |
dihydropyrimidine dehydrogenase deficiency |
|
| subClassOf |