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"

27 matching diseasesClear search ×

Late-onset junctional epidermolysis bullosa

JEB-lo · Epidermolysis bullosa progressiva

ORPHA:79406

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

Dystrophic epidermolysis bullosa

DEB · Dermolytic epidermolysis bullosa

ORPHA:303

Dystrophic epidermolysis bullosa pruriginosa

DEB pruriginosa · DEB-Pr

ORPHA:89843

Epidermolysis bullosa acquisita

Acquired epidermolysis bullosa

ORPHA:46487

Epidermolysis bullosa simplex

EBS

ORPHA:304

Epidermolysis bullosa simplex due to BP230 deficiency

DST-related epidermolysis bullosa simplex · EBS due to BP230 deficiency

ORPHA:412181

Epidermolysis bullosa simplex with anodontia/hypodontia

Kallin syndrome · EBS with anodontia/hypodontia

ORPHA:2325

Epidermolysis bullosa simplex with pyloric atresia

EBS with pyloric atresia · EBS-PA

ORPHA:158684

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

Localized dystrophic epidermolysis bullosa

Localized DEB

ORPHA:595356

Localized dystrophic epidermolysis bullosa, pretibial form

DEB-Pt · Localized DEB, pretibial form

ORPHA:79410

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

Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome

Epidermolysis bullosa simplex with nephropathy · Nephrotic syndrome-hearing loss-epidermolysis bullosa syndrome

ORPHA:300333

OBSOLETE: Basal epidermolysis bullosa simplex

ORPHA:158665

OBSOLETE: Suprabasal epidermolysis bullosa simplex

ORPHA:158661

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

Severe generalized junctional epidermolysis bullosa

Epidermolysis bullosa letalis · JEB-H

ORPHA:79404