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 ×

Intermediate generalized junctional epidermolysis bullosa

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

ORPHA:79402

Autosomal dominant generalized dystrophic epidermolysis bullosa

Generalized DDEB

ORPHA:231568

Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form

Epidermolysis bullosa simplex, Koebner type · Epidermolysis bullosa simplex, Köbner type

ORPHA:79399

Autosomal dominant generalized epidermolysis bullosa simplex, severe form

Epidermolysis bullosa simplex, Dowling-Meara type · Autosomal dominant generalized EBS, severe form

ORPHA:79396

Autosomal recessive generalized epidermolysis bullosa simplex

Autosomal recessive generalized EBS

ORPHA:89838

Inherited epidermolysis bullosa

Epidermolysis bullosa hereditaria · Hereditary epidermolysis bullosa

ORPHA:79361

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

Late-onset junctional epidermolysis bullosa

JEB-lo · Epidermolysis bullosa progressiva

ORPHA:79406

Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome

Late-onset localized JEB-intellectual disability syndrome

ORPHA:231556

Localized epidermolysis bullosa simplex

EBS-loc · Epidermolysis bullosa simplex of palms and soles

ORPHA:79400

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

Severe generalized junctional epidermolysis bullosa

Epidermolysis bullosa letalis · JEB-H

ORPHA:79404