Disease association ontology term - MONDO:0013171 - purine nucleoside phosphorylase deficiency
Term summary
- ID
- MONDO:0013171
- Name
- purine nucleoside phosphorylase deficiency
- Ontology or CV name
- Disease association
- Definition
- Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.
