Disease association ontology term - MONDO:0016088 - hypoxanthine-guanine phosphoribosyltransferase deficiency
Term summary
- ID
- MONDO:0016088
- Name
- hypoxanthine-guanine phosphoribosyltransferase deficiency
- Ontology or CV name
- Disease association
- Definition
- Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency.
