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"

3 matching diseasesClear search ×

Epidermolytic palmoplantar keratoderma

Diffuse erythrodermic palmoplantar keratoderma, Voerner type · Diffuse erythrodermic palmoplantar keratoderma, Vörner type

ORPHA:2199

Autosomal erythropoietic protoporphyria

EPP

ORPHA:79278

Erythropoietic porphyria

EPP

ORPHA:659681