OMIA:002855 : Hypoxanthine guanine phosphoribosyltransferase deficiency |
Categories: Renal / urinary system phene
Possible human homologues (MIM numbers): 300322 (trait) , 308000 (gene)
Cross-species summary: Variants in the HPRT gene result in a defective purine metabolism; in humans called Lesch-Nyhan syndrome.
Species in which this phene is found:
rabbit (Oryctolagus cuniculus)
Edit History
- Created by Imke Tammen2 on 21 May 2024
- Changed by Imke Tammen2 on 21 May 2024