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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:0011273 | Anisocytosis |
| HP:0001631 | Atrial septal defect |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0004447 | Poikilocytosis |
| HP:0001629 | Ventricular septal defect |
| HP:0003339 | Pyrimidine-responsive megaloblastic anemia |
