- TypeDisease
- External link(s)
- Gene product
- Disease group(s)
- Child entries
- Phosphoribosylpyrophosphate synthetase superactivity, severe form
- Phosphoribosylpyrophosphate synthetase superactivity, attenuated form
- PRPS1-related non-syndromic sensorineural deafness
- X linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency
- X-linked Charcot-Marie-Tooth disease type 5
- Phosphoribosylpyrophosphate synthetase superactivity