Disease association ontology term - MONDO:0010298 - Lesch-Nyhan syndrome
Term summary
- ID
- MONDO:0010298
- Name
- Lesch-Nyhan syndrome
- Ontology or CV name
- Disease association
- Definition
- Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems.
