Disease association ontology term - MONDO:0017909 - inherited glutathione synthetase deficiency
Term summary
- ID
- MONDO:0017909
- Name
- inherited glutathione synthetase deficiency
- Ontology or CV name
- Disease association
- Definition
- Glutathione synthetase deficiency is characterized by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms.
