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"

25 matching diseasesClear search ×

Naxos disease

KWWH type I · Keratoderma with woolly hair type I

ORPHA:34217

Acrokeratoelastoidosis of Costa

AKE · PPKP3

ORPHA:38

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

Disease with diffuse palmoplantar keratoderma as a major feature

Disease with diffuse palmoplantar hyperkeratosis as a major feature

ORPHA:307711

Disease with focal palmoplantar keratoderma as a major feature

Disease with focal palmoplantar hyperkeratosis as a major feature

ORPHA:307871

Disease with punctate palmoplantar keratoderma as a major feature

Disease with punctate palmoplantar hyperkeratosis as a major feature

ORPHA:308023

Focal acral hyperkeratosis

Punctate palmoplantar hyperkeratosis type 3 without elastoidosis · Punctate palmoplantar keratoderma type 3 without elastoidosis

ORPHA:308013

Focal palmoplantar and gingival keratoderma

Focal palmoplantar and gingival hyperkeratosis

ORPHA:2200

Focal palmoplantar keratoderma

Focal PPK · Focal keratosis palmoplantaris

ORPHA:307837

Glycogen storage disease with hypertrophic cardiomyopathy

GSD with hypertrophic cardiomyopathy · Glycogenosis with hypertrophic cardiomyopathy

ORPHA:217572

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

Isolated diffuse palmoplantar keratoderma

Isolated diffuse PPK · Isolated diffuse keratosis palmoplantaris

ORPHA:307148

Isolated focal palmoplantar keratoderma

Isolated focal PPK · Isolated focal keratosis palmoplantaris

ORPHA:307846

Isolated punctate palmoplantar keratoderma

Isolated punctate PPK · Isolated punctate palmoplantar hyperkeratosis

ORPHA:2338

Marginal papular palmoplantar keratoderma

Marginal papular palmoplantar hyperkeratosis

ORPHA:307995

Mutilating palmoplantar keratoderma with periorificial keratotic plaques

Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques · Olmsted syndrome

ORPHA:659

Palmoplantar keratoderma-deafness syndrome

PPK-deafness syndrome · Palmoplantar hyperkeratosis-deafness syndrome

ORPHA:2202

Palmoplantar keratoderma, Nagashima type

PPK, Nagashima type · Palmoplantar hyperkeratosis, Nagashima type

ORPHA:140966

Punctate palmoplantar keratoderma

Punctate PPK · Punctate keratosis palmoplantaris

ORPHA:307967

Punctate palmoplantar keratoderma type 2

PPKP2 · PPPP

ORPHA:79502

Woolly hair-palmoplantar keratoderma syndrome

Woolly hair-palmoplantar hyperkeratosis syndrome · KWWH type IV

ORPHA:420686