dihydropyrimidine dehydrogenase deficiency
Information
- Disease name
- dihydropyrimidine dehydrogenase deficiency
- Disease ID
- DOID:14218
- 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." [url:http\://en.wikipedia.org/wiki/Dihydropyrimidine_dehydrogenase_deficiency]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT04541381 | Recruiting | N/A | The PhOCus Trial: Implementation of Pharmacogenomic Testing in Oncology Care | February 7, 2022 | March 31, 2028 |
- Disase is a (Disease Ontology)
- DOID:653
- Cross Reference ID (Disease Ontology)
- GARD:19
- Cross Reference ID (Disease Ontology)
- MESH:D054067
- Cross Reference ID (Disease Ontology)
- MIM:274270
- Cross Reference ID (Disease Ontology)
- NCI:C84672
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:238016000
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1959620
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C3495551
- Exact Synonym (Disease Ontology)
- Dihydrouracil Dehydrogenase deficiency
- Exact Synonym (Disease Ontology)
- familial pyrimidinaemia
- Exact Synonym (Disease Ontology)
- thymine-uracilurea
- MeSH unique ID (MeSH (Medical Subject Headings))
- D054067