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"

10 matching diseasesClear search ×

Localized junctional epidermolysis bullosa

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

ORPHA:251393

Acral peeling skin syndrome

Acral PSS · Peeling skin syndrome 2

ORPHA:263534

Late-onset junctional epidermolysis bullosa

JEB-lo · Epidermolysis bullosa progressiva

ORPHA:79406

Localized dystrophic epidermolysis bullosa

Localized DEB

ORPHA:595356

Localized dystrophic epidermolysis bullosa, acral form

Localized DEB, acral form

ORPHA:158673

Localized dystrophic epidermolysis bullosa, nails only

Localized DEB, nails only

ORPHA:158676

Localized epidermolysis bullosa simplex

EBS-loc · Epidermolysis bullosa simplex of palms and soles

ORPHA:79400

Localized lipodystrophy

ORPHA:79088

Localized scleroderma

Localized fibrosing scleroderma

ORPHA:90289

Primary localized amyloidosis

Localized AL amyloidosis

ORPHA:314709