Dihydropyrimidine Dehydrogenase Deficiency
Disease ID: disease_node_11819
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| Dbxref | GARD:19, MESH:D054067, MIM:274270, NCI:C84672, SNOMEDCT_US_2023_03_01:238016000, UMLS_CUI:C1959620, UMLS_CUI:C3495551 |
|---|---|
| Subclassof | DOID_653 |
| Data Source | DOID, MESH |
| Synonyms | Dihydrouracil Dehydrogenase deficiency, familial pyrimidinaemia, thymine-uracilurea |
| Mesh Id | D054067 |
| Mesh Label | Dihydropyrimidine Dehydrogenase Deficiency |
| Mesh Subclassof | D011686 |
| Doid Label | dihydropyrimidine dehydrogenase deficiency |
| Doid Description | 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. |
| Disease Node Id | disease_node_11819 |
| Doid Id | DOID_14218 |
| Label | Dihydropyrimidine Dehydrogenase Deficiency |
- Outgoing r'ship
SUBCLASS_OFto/from Purine-Pyrimidine Metabolic Disorder(ID:disease_node_17499) (Disease)