| Disease ID | Source | Name | Description |
| 300322 | OMIM | Lesch-Nyhan syndrome (LNS) | Characterized by complete lack of enzymatic activity that results in hyperuricemia, choreoathetosis, mental retardation, and compulsive self-mutilation. The disease is caused by variants affecting the gene represented in this entry. |
| 300323 | OMIM | Gout HPRT-related (GOUT-HPRT) | Characterized by partial enzyme activity and hyperuricemia. The disease is caused by variants affecting the gene represented in this entry. |