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 ×

Naxos disease

KWWH type I · Keratoderma with woolly hair type I

ORPHA:34217

Aquagenic palmoplantar keratoderma

Aquagenic keratoderma · Transient reactive papulotranslucent acrokeratoderma

ORPHA:498359

Carvajal syndrome

Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome · Wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome

ORPHA:65282

Diffuse palmoplantar keratoderma

Diffuse PPK · Diffuse keratosis palmoplantaris

ORPHA:307141

Diffuse palmoplantar keratoderma with painful fissures

ORPHA:369999

Epidermolytic palmoplantar keratoderma

Diffuse erythrodermic palmoplantar keratoderma, Voerner type · Diffuse erythrodermic palmoplantar keratoderma, Vörner type

ORPHA:2199

Focal palmoplantar keratoderma

Focal PPK · Focal keratosis palmoplantaris

ORPHA:307837

Focal palmoplantar keratoderma with joint keratoses

ORPHA:370002

Hereditary palmoplantar keratoderma

Hereditary PPK · Hereditary keratosis palmoplantaris

ORPHA:79357

Inherited arrhythmogenic cardiomyopathy

Arrhythmogenic cardiomyopathy · ACM

ORPHA:247

Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant

ALVC · Arrhythmogenic cardiomyopathy dominant-left variant

ORPHA:293888

Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant

Arrhythmogenic cardiomyopathy dominant-right variant · Arrhythmogenic cardiomyopathy with right ventricular involvement

ORPHA:293910

Leukoencephalopathy-palmoplantar keratoderma syndrome

ORPHA:2386

Palmoplantar keratoderma with tonotubular keratin

ORPHA:89833

Punctate palmoplantar keratoderma

Punctate PPK · Punctate keratosis palmoplantaris

ORPHA:307967

Striate palmoplantar keratoderma

Keratosis palmoplantaris striata et areata · Keratosis palmoplantaris varians of Wachters

ORPHA:50942

Thost-Unna palmoplantar keratoderma

ORPHA:496