Welcome
{{ username}}
Message Center
{{ messageCount }} Messages
Go to Message Center
Watched Genes
{{$index + 1}}.
{{ watchedObject.symbol }} (RGD ID:{{watchedObject.rgdId}})
Modify Subscription
Unsubscribe
Watched Ontology Terms
{{$index + 1}}.
{{ watchedTerm.term }} ({{watchedTerm.accId}})
Modify Subscription
Unsubscribe
{{gene.symbol}}:
{{ gene.description }}
×
Save List to My RGD
Create Name:
Description:
You must be logged in to use this feature
{{ loginError }}
{{ watchLinkText }}
Select categories you would like to watch. Updates to this gene will be sent to {{ username }}
{{geneWatchAttr}}
Analyze
Gene
Strain
QTL
List
×
Gene Annotator (Functional Annotation)
unavailable
Gene Annotator (Annotation Distribution)
unavailable
Variant Visualizer (Genomic Variants)
unavailble
Variant Visualizer (Genomic Variants)
unavailable
Gene Annotator (Functional Annotation)
Gene Annotator (Annotation Distribution)
Variant Visualizer (Genomic Variants)
InterViewer (Protein-Protein Interactions)
unavailable
Gviewer (Genome Viewer)
unavailable
Variant Visualizer (Damaging Variants) unavailble
Variant Visualizer (Damaging Variants)
unavailable
InterViewer (Protein-Protein Interactions)
GViewer (Genome Viewer)
Variant Visualizer (Damaging Variants)
Gene Annotator (Annotation Comparison)
unavailable
OLGA (Gene List Generator)
unavailable
Gene Annotator (Annotation Comparison)
OLGA (Gene List Generator)
Excel (Download)
MOET (Multi-Ontology Enrichement)
unavailable
GOLF (Gene-Ortholog Location Finder)
unavailable
MOET (Multi-Ontology Enrichement)
GOLF (Gene-Ortholog Location Finder)
x
Send Message
x
Send us a Message
Your email
Message
Send
Submit Data
|
Help
|
Video Tutorials
|
News
|
Publications
|
Download
|
REST API
|
Citing RGD
|
Contact
Home
Search RGD
Grant Resources
Citing RGD
About Us
Contact Us
Data
Genes
Variants
Community Projects
QTLs
Strains
Markers
Genome Information
Ontologies
Cell Lines
References
Download
Submit Data
Analysis & Visualization
OntoMate (Literature Search)
JBrowse (Genome Browser)
Synteny Browser (VCMap)
Variant Visualizer
Multi-Ontology Enrichment (MOET)
Gene-Ortholog Location Finder (GOLF)
InterViewer (Protein-Protein Interactions)
PhenoMiner (Quatitative Phenotypes)
Gene Annotator
OLGA (Gene List Generator)
AllianceMine
GViewer (Genome Viewer)
Diseases
Aging & Age-Related Disease
Cancer & Neoplastic Disease
Cardiovascular Disease
Coronavirus Disease
Developmental Disease
Diabetes
Hematologic Disease
Immune & Inflammatory Disease
Infectious Disease
Liver Disease
Neurological Disease
Obesity & Metabolic Syndrome
Renal Disease
Respiratory Disease
Sensory Organ Disease
Phenotypes & Models
Find Models
new
Genetic Models
Autism Models
Rat PhenoMiner (Quantitative Phenotypes)
Chinchilla PhenoMiner
Expected Ranges (Quantitative Phenotype)
PhenoMiner Term Comparison
Hybrid Rat Diversity Panel
Phenotypes
Phenotypes in Other Animal Models
Animal Husbandry
Strain Medical Records
Phylogenetics
Strain Availability
Calendar
Rats 101
Submissions
Photo Archive
Pathways
Community
Rat Community Forum
Directory of Rat Laboratories
Video Tutorials
News
RGD Publications
RGD Presentations Archive
Nomenclature Guidelines
Resource Links
Laboratory Resources
Employment Resources
Advanced Search (OLGA)
Ontology Browser
Term:
orotic aciduria
(DOID:0050833)
Annotations:
Rat: (1)
Mouse: (1)
Human: (1)
Chinchilla: (1)
Bonobo: (1)
Dog: (1)
Squirrel: (1)
Pig: (1)
Naked Mole-rat: (1)
Green Monkey: (1)
Parent Terms
Term With Siblings
Child Terms
purine-pyrimidine metabolic disorder
+
pyrimidine metabolic disorder
+
adenine phosphoribosyltransferase deficiency
adenosine deaminase deficiency
Adenosine Monophosphate Deaminase Deficiency
+
adenylosuccinase lyase deficiency
Beta-Ureidopropionase Deficiency
dihydropyrimidinase deficiency
dihydropyrimidine dehydrogenase deficiency
+
gout
+
Infantile Hyperuricemia with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase
Lesch-Nyhan syndrome
+
Methylmalonate Semialdehyde Dehydrogenase Deficiency
orotic aciduria
A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine. (DO)
Orotic Aciduria II
Phosphoribosylpyrophosphate Synthetase Deficiency
phosphoribosylpyrophosphate synthetase superactivity
Pseudouridinuria and Mental Defect
purine nucleoside phosphorylase deficiency
thiopurine S-methyltransferase deficiency
+
xanthinuria
+
Synonyms
Exact Synonyms:
OPRT AND ODC DEFICIENCY ; OROTATE PHOSPHORIBOSYLTRANSFERASE AND OROTIDYLIC DECARBOXYLASE DEFICIENCY ; OROTIC ACIDURIA I ; Orotate phosphoribosyltransferase and omp decarboxylase deficiency ; Oroticaciduria 1 ; Orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency ; UMP SYNTHASE DEFICIENCY ; UMPS-RELATED CONDITION ; Uridine monophosphate synthase deficiency ; hereditary orotic aciduria ; hereditary orotic aciduria, type 1 ; uridine monophosphate synthetase deficiency
Narrow Synonyms:
OAWA ; UMPS DEFICIENCY OROTIC ACIDURIA WITHOUT MEGALOBLASTIC ANEMIA
Primary IDs:
MESH:C537136
Alternate IDs:
OMIM:258900
Xrefs:
NCI:C98944
;
ORDO:30
Definition Sources:
http://en.wikipedia.org/wiki/Orotic_aciduria
"DO" "DO",
http://www.omim.org/entry/258900
"DO" "DO"