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Last uploaded:
August 28, 2024
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| Preferred Name | orotic aciduria | |
| Synonyms |
orotate phosphoribosyltransferase deficiency |
|
| 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. |
|
| ID |
http://purl.bioontology.org/ontology/CSP/1849-8113 |
|
| altLabel |
orotate phosphoribosyltransferase deficiency
|
|
| cui |
C0268128
|
|
| 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.
|
|
| DID |
1849-8113
|
|
| Inverse of RB |
http://purl.bioontology.org/ontology/CSP/1840-2225 http://purl.bioontology.org/ontology/CSP/4001-0049 |
|
| notation |
1849-8113
|
|
| prefLabel |
orotic aciduria
|
|
| tui |
T033
|
|
| subClassOf |
http://purl.bioontology.org/ontology/CSP/1840-2225 http://purl.bioontology.org/ontology/CSP/4001-0049 |
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