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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"
GM3 synthase deficiency
ST3GAL5-CDG
ST3GAL3-CDG
ST3GAL3-related congenital disorder of glycosylation · ST3GAL3-related carbohydrate deficient glycoprotein syndrome
STT3A-CDG
CDG syndrome type Iw · CDG-Iw
STT3B-CDG
CDG syndrome type Ix · CDG-Ix