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"

15 matching diseasesClear search ×

Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form

Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis · Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type

ORPHA:79408

Autosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine type

DDEB, Cockayne-Touraine type

ORPHA:79407

Autosomal dominant dystrophic epidermolysis bullosa, Pasini type

DDEB, Pasini type

ORPHA:216989

Autosomal dominant generalized dystrophic epidermolysis bullosa

Generalized DDEB

ORPHA:231568

Autosomal recessive epidermolytic ichthyosis

AREI

ORPHA:512103

Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form

Generalized RDEB, intermediate form · Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis

ORPHA:89842

Autosomal recessive generalized epidermolysis bullosa simplex

Autosomal recessive generalized EBS

ORPHA:89838

Dystrophic epidermolysis bullosa

DEB · Dermolytic epidermolysis bullosa

ORPHA:303

Dystrophic epidermolysis bullosa pruriginosa

DEB pruriginosa · DEB-Pr

ORPHA:89843

Junctional epidermolysis bullosa

Epidermolysis bullosa atrophicans · JEB

ORPHA:305

Localized dystrophic epidermolysis bullosa

Localized DEB

ORPHA:595356

Localized dystrophic epidermolysis bullosa, acral form

Localized DEB, acral form

ORPHA:158673

OBSOLETE: Centripetalis recessive dystrophic epidermolysis bullosa

OBSOLETE: Centripetal dystrophic epidermolysis bullosa · OBSOLETE: Centripetal recessive dystrophic epidermolysis bullosa

ORPHA:89841

Recessive dystrophic epidermolysis bullosa inversa

RDEB inversa · RDEB-I

ORPHA:79409

Self-improving dystrophic epidermolysis bullosa

Self-improving DEB · Transient bullous dermolysis of the newborn

ORPHA:79411