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Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.
Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"
Phosphoribosylpyrophosphate synthetase superactivity
PRPP synthetase superactivity · PRPS1 superactivity
Mild phosphoribosylpyrophosphate synthetase superactivity
Mild PRPP synthetase superactivity · Mild PRPS1 superactivity
Severe phosphoribosylpyrophosphate synthetase superactivity
Severe PRPP synthetase superactivity · Severe PRPS1 superactivity