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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"
RFT1-CDG
CDG1N · Carbohydrate deficient glycoprotein syndrome type In
DPM1-CDG
CDG syndrome type Ie · CDG-Ie
Fructose-1,6-bisphosphatase deficiency
FBPase deficiency · Fructose-1,6-diphosphatase deficiency
Purine nucleoside phosphorylase deficiency
PNP deficiency · PNPase deficiency