urea cycle disorder
MONDO:0004739Mondo
Findings
No curated finding names urea cycle disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0004739), read 2026-09-29. CC BY 4.0.
Where it sits
Other names
5 names
Resolves to: urea cycle disorder
- Also called
- disorder of urea cycle metabolisminborn disorder of urea cycle metabolism and ammonia detoxificationinborn urea cycle disorderurea cycle disordersurea cycle metabolism disorder