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 ×

Staphylococcal scalded skin syndrome

Generalized exfoliative disease · SSSS

ORPHA:36236

Autosomal dominant generalized dystrophic epidermolysis bullosa

Generalized DDEB

ORPHA:231568

Generalized galactose epimerase deficiency

Generalized GALE deficiency · Generalized GALE-D

ORPHA:308487

Genetic neurodegenerative disease

ORPHA:183500

Peeling skin syndrome type B

Generalized peeling skin syndrome type B · Inflammatory peeling skin syndrome

ORPHA:263553