Id http://purl.bioontology.org/ontology/CSP/1849-8113
http://purl.bioontology.org/ontology/CSP/1849-8113
Preferred Name

orotic aciduria

Definitions
excess of orotic acid in the urine occurring in several metabolic disorders and also resulting from the administration of some drugs; one disorder is an autosomal recessive defect of pyrimidine metabolism due to deficiency of orate phosphoribosyltransferate or orotidine 5'-phosphatae decarboxylase.
Synonyms
orotate phosphoribosyltransferase deficiency
Type http://www.w3.org/2002/07/owl#Class
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