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"

4 matching diseasesClear search ×

Peeling skin syndrome

Deciduous skin · Familial continuous skin peeling syndrome

ORPHA:817

Congenital ptosis

ORPHA:91411

Dyskeratosis congenita

DC · DKC

ORPHA:1775

Exfoliative ichthyosis

Autosomal recessive exfoliative ichthyosis · Ichthyosis exfoliativa

ORPHA:289586