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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
orotic aciduria
Summary
- Definition
- A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine.
- Super Class
- pyrimidine metabolic disorder
External Links
- Disease Ontology
- DOID:0050833
- Mondo Disease Ontology
- OMIM
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P11172 | Uridine 5'-monophosphate synthase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003355 | Aminoaciduria |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0005435 | Impaired T cell function |
| HP:0001385 | Hip dysplasia |
| HP:0000368 | Low-set, posteriorly rotated ears |
| HP:0002205 | Recurrent respiratory infections |
| HP:0003267 | Reduced orotidine 5-prime phosphate decarboxylase level |
| HP:0001508 | Failure to thrive |
| HP:0004826 | Folate-unresponsive megaloblastic anemia |
| HP:0000790 | Hematuria |
