hypoxanthine-guanine phosphoribosyltransferase deficiency
MONDO:0016088Mondo
Findings
No curated finding names hypoxanthine-guanine phosphoribosyltransferase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0016088), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
Other names
3 names
Resolves to: hypoxanthine-guanine phosphoribosyltransferase deficiency
- Also called
- HPRT deficiencyHPRT1 deficiencyhypoxanthine-guanine phosphoribosyltransferase 1 deficiency