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 ×

Autosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine type

DDEB, Cockayne-Touraine type

ORPHA:79407

Cockayne syndrome type 1

Cockayne syndrome type I

ORPHA:90321

Cockayne syndrome type 2

Cockayne syndrome type II

ORPHA:90322

Cockayne syndrome type 3

Cockayne syndrome type III

ORPHA:90324