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 ×

Exfoliative ichthyosis

Autosomal recessive exfoliative ichthyosis · Ichthyosis exfoliativa

ORPHA:289586

Autosomal dominant epidermolytic ichthyosis

BCIE · Bullous congenital ichthyosiform erythroderma

ORPHA:312

Ichthyosis

ORPHA:79354

Inherited ichthyosis

Genetic ichthyosis

ORPHA:183435

Peeling skin syndrome

Deciduous skin · Familial continuous skin peeling syndrome

ORPHA:817