Disease Term Disease ID Gene Symbol References
Phosphoribosylpyrophosphate Synthetase Superactivity C1970827 PRPS1 7593598, 8968763, 24896178, 23509005, 10066814, 12847698, 8253776, 22246954, 27604308, 28742244, 8498830
Severe phosphoribosylpyrophosphate synthetase superactivity 411543 PRPS1