| Metadata | |
|---|---|
| ID | DOID:9271 |
| Name | ornithine carbamoyltransferase deficiency |
| Definition | An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase. http://en.wikipedia.org/wiki/Ornithine_carbamoyltransferase_deficiency |
| Xrefs |
SNOMEDCT_US_2023_03_01:80908008 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
deficiency of citrulline phosphorylase [EXACT] ornithine transcarbamylase deficiency [EXACT] |
| Parent Relationships |
is_a urea cycle disorder |