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"

6 matching diseasesClear search ×

Late-onset junctional epidermolysis bullosa

JEB-lo · Epidermolysis bullosa progressiva

ORPHA:79406

Junctional epidermolysis bullosa

Epidermolysis bullosa atrophicans · JEB

ORPHA:305

Junctional epidermolysis bullosa inversa

JEB inversa · JEB-I

ORPHA:79405

Junctional epidermolysis bullosa with pyloric atresia

Carmi syndrome · JEB-PA

ORPHA:79403

Localized junctional epidermolysis bullosa

JEB-nH loc · Junctional epidermolysis bullosa, non-Herlitz localized type

ORPHA:251393

Severe generalized junctional epidermolysis bullosa

Epidermolysis bullosa letalis · JEB-H

ORPHA:79404