Disease association ontology term - MONDO:0009393 - ornithine translocase deficiency
Term summary
- ID
- MONDO:0009393
- Name
- ornithine translocase deficiency
- Ontology or CV name
- Disease association
- Definition
- A rare, genetic disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or coagulation defects or other chronic liver dysfunction.
