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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"
Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
Disorder of glycosphingolipid and GPI-anchored proteins glycosylation
Congenital disorder of glycosylation
CDG · Carbohydrate deficient glycoprotein syndrome
Disorder of multiple glycosylation
Disorder of protein N-glycosylation
Disorder of protein O-glycosylation