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"

17 matching diseasesClear search ×

Severe generalized junctional epidermolysis bullosa

Epidermolysis bullosa letalis · JEB-H

ORPHA:79404

Autosomal dominant generalized dystrophic epidermolysis bullosa

Generalized DDEB

ORPHA:231568

Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form

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

ORPHA:89842

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 recessive generalized epidermolysis bullosa simplex

Autosomal recessive generalized EBS

ORPHA:89838

Dystrophic epidermolysis bullosa

DEB · Dermolytic epidermolysis bullosa

ORPHA:303

Epidermolysis bullosa acquisita

Acquired epidermolysis bullosa

ORPHA:46487

Epidermolysis bullosa simplex

EBS

ORPHA:304

Inherited epidermolysis bullosa

Epidermolysis bullosa hereditaria · Hereditary epidermolysis bullosa

ORPHA:79361

Intermediate generalized junctional epidermolysis bullosa

Generalized junctional epidermolysis bullosa, non-Herlitz type · Intermediate generalized JEB

ORPHA:79402

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

Kindler epidermolysis bullosa

Kindler syndrome · Poikiloderma of Kindler

ORPHA:2908

Late-onset junctional epidermolysis bullosa

JEB-lo · Epidermolysis bullosa progressiva

ORPHA:79406

Localized junctional epidermolysis bullosa

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

ORPHA:251393

OBSOLETE: Junctional epidermolysis bullosa, non-Herlitz type

OBSOLETE: JEN-nH

ORPHA:89840