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Standards Ontologies Notations
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
Disease Ontology
DOID:0050833
Mondo Disease Ontology
OMIM
WikiPathways (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
790 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
7372 UMPS uridine monophosphate synthetase
Displaying all 2 entries
Gene ID Gene Symbol Description Source
22247 Umps uridine monophosphate synthetase
69719 Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
Displaying 1 entry
Gene ID Gene Symbol Description Source
42493 r-l rudimentary-like
Displaying all 2 entries
Gene ID Gene Symbol Description Source
172008 R12E2.11 Orotate phosphoribosyltransferase
176453 umps-1 Orotidine 5'-phosphate decarboxylase
The Human Phenotype Ontology
Displaying entries 1 - 10 of 26 in total
HPO ID HPO Term
HP:0001643 Patent ductus arteriosus
HP:0008388 Abnormal toenail morphology
HP:0000431 Wide nasal bridge
HP:0003218 Oroticaciduria
HP:0000316 Hypertelorism
HP:0001903 Anemia
HP:0003526 Orotic acid crystalluria
HP:0001263 Global developmental delay
HP:0000069 Abnormality of the ureter
HP:0001744 Splenomegaly
Displaying 1 entry
Gene ID Gene Symbol Description
7372 UMPS uridine monophosphate synthetase
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024