loading...| Preferred Name | urea cycle disorder | |
| Synonyms |
disorder of urea cycle metabolism and ammonia detoxification UCD inborn urea cycle disorder urea cycle defect inborn disorder of urea cycle metabolism and ammonia detoxification disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia urea cycle metabolism disorder disorder of urea cycle metabolism urea cycle disorders |
|
| Definitions |
A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0004739 |
|
| altLabel |
disorder of urea cycle metabolism and ammonia detoxification UCD inborn urea cycle disorder urea cycle defect inborn disorder of urea cycle metabolism and ammonia detoxification disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia urea cycle metabolism disorder disorder of urea cycle metabolism urea cycle disorders |
|
| definition |
A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body. |
|
| has_exact_synonym |
inborn urea cycle disorder urea cycle defect inborn disorder of urea cycle metabolism and ammonia detoxification disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia urea cycle metabolism disorder disorder of urea cycle metabolism urea cycle disorders |
|
| has_related_synonym |
disorder of urea cycle metabolism and ammonia detoxification UCD |
|
| label |
urea cycle disorder |
|
| prefixIRI |
MONDO:0004739 |
|
| prefLabel |
urea cycle disorder |
|
| textual definition |
A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body. |
|
| subClassOf |