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"

9 matching diseasesClear search ×

Acral peeling skin syndrome

Acral PSS · Peeling skin syndrome 2

ORPHA:263534

Generalized peeling skin syndrome

Generalized PSS · Generalized deciduous skin

ORPHA:263543

Localized dystrophic epidermolysis bullosa

Localized DEB

ORPHA:595356

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

Localized lipodystrophy

ORPHA:79088

Localized scleroderma

Localized fibrosing scleroderma

ORPHA:90289

Primary localized amyloidosis

Localized AL amyloidosis

ORPHA:314709

Pustulosis palmaris et plantaris

LPP · Localized pustular psoriasis

ORPHA:163927