loading...| Preferred Name | urea cycle disorder | |
| Synonyms |
disorder of urea cycle metabolism disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia urea cycle defect |
|
| Definitions |
An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_9267 |
|
| alternative label |
disorder of urea cycle metabolism disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia urea cycle defect |
|
| database_cross_reference |
MESH:D056806 SNOMEDCT_US_2023_03_01:36444000 ICD10CM:E72.2 UMLS_CUI:C0154246 ICD9CM:270.6 GARD:7837 NCI:C84785 |
|
| definition |
An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream. |
|
| has exact synonym |
disorder of urea cycle metabolism disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia urea cycle defect |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:9267 |
|
| in_subset | ||
| label |
urea cycle disorder |
|
| notation |
DOID:9267 |
|
| note |
An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream. |
|
| preferred label |
urea cycle disorder |
|
| prefLabel |
urea cycle disorder |
|
| subClassOf |