Metadata | |
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ID | DOID:9267 |
Name | urea cycle disorder |
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. http://en.wikipedia.org/wiki/Urea_cycle_disorder |
Xrefs |
SNOMEDCT_US_2023_03_01:36444000 |
Subsets |
DO_rare_slim NCIthesaurus |
Synonyms |
disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia [EXACT] disorder of urea cycle metabolism [EXACT] urea cycle defect [EXACT] |
Parent Relationships |