Disease association ontology term - MONDO:0010703 - ornithine carbamoyltransferase deficiency
Term summary
- ID
- MONDO:0010703
- Name
- ornithine carbamoyltransferase deficiency
- Ontology or CV name
- Disease association
- Definition
- Ornithine transcarbamylase deficiency (OTCD) is a disorder of urea cycle metabolism and ammonia detoxification characterized by either a severe, neonatal-onset disease found almost exclusively in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological complications.
