Disease association ontology term - MONDO:0008814 - arginase deficiency
Term summary
- ID
- MONDO:0008814
- Name
- arginase deficiency
- Ontology or CV name
- Disease association
- Definition
- Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.
