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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
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"

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