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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"
Staphylococcal scalded skin syndrome
Generalized exfoliative disease · SSSS
Autosomal dominant generalized dystrophic epidermolysis bullosa
Generalized DDEB
Generalized galactose epimerase deficiency
Generalized GALE deficiency · Generalized GALE-D
Genetic neurodegenerative disease
Peeling skin syndrome type B
Generalized peeling skin syndrome type B · Inflammatory peeling skin syndrome