Rare Disease Library

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"

5 matching diseasesClear search ×

Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation

Disorder of glycosphingolipid and GPI-anchored proteins glycosylation

ORPHA:309515

Congenital disorder of glycosylation

CDG · Carbohydrate deficient glycoprotein syndrome

ORPHA:137

Disorder of multiple glycosylation

ORPHA:309526

Disorder of protein N-glycosylation

ORPHA:309347

Disorder of protein O-glycosylation

ORPHA:309447