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Ontology Browser

Term:
dihydropyrimidine dehydrogenase deficiency (DOID:14218)
Annotations: Rat: (2) Mouse: (2) Human: (4) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2) Naked Mole-rat: (1) Green Monkey: (2)
Parent Terms Term With Siblings Child Terms
adenine phosphoribosyltransferase deficiency  
adenosine deaminase deficiency  
Adenosine Monophosphate Deaminase Deficiency +   
adenylosuccinase lyase deficiency  
Beta-Ureidopropionase Deficiency  
dihydropyrimidine dehydrogenase deficiency +   
A purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine. (DO)
gout +   
Infantile Hyperuricemia with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase 
Lesch-Nyhan syndrome +   
Methylmalonate Semialdehyde Dehydrogenase Deficiency  
orotic aciduria  
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: DPD Deficiencies ;   DPD Deficiency ;   DPYD DEFICIENCY ;   Dihydropyrimidinuria ;   Dihydropyrimidinurias ;   Familial Pyrimidemia ;   Familial Pyrimidemias ;   Familial Pyrimidinemia ;   Familial Pyrimidinemias ;   Hereditary Thymine Uraciluria ;   Hereditary Thymine-Uracilurias ;   dihydropyrimidine dehydrogenase deficiencies ;   dihydrouracil dehydrogenase deficiency ;   familial pyrimidinaemia ;   thymine-uracilurea
Narrow Synonyms: 5-fluorouracil toxicity
Primary IDs: MESH:D054067
Alternate IDs: OMIM:274270
Xrefs: GARD:19 ;   NCI:C3964 ;   NCI:C84672
Definition Sources: http://en.wikipedia.org/wiki/Dihydropyrimidine_dehydrogenase_deficiency "DO" "DO"

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