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 |