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Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/1849-8113
http://purl.bioontology.org/ontology/CSP/1849-8113
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|---|---|
| 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.
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| Synonyms |
orotate phosphoribosyltransferase deficiency
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | 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. |
|---|---|
| altLabel | orotate phosphoribosyltransferase deficiency
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| prefLabel | orotic aciduria
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| type | |
| tui | T033
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| notation | 1849-8113
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| Semantic type UMLS property | |
| DID | 1849-8113
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| cui | C0268128
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| Inverse of RB | |
| subClassOf |
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