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"

22 matching diseasesClear search ×

Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome

HOPP syndrome · Hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome

ORPHA:307936

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

Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome

ORPHA:352662

Diffuse palmoplantar keratoderma

Diffuse PPK · Diffuse keratosis palmoplantaris

ORPHA:307141

Diffuse palmoplantar keratoderma-acrocyanosis syndrome

Diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome

ORPHA:86918

Focal palmoplantar keratoderma

Focal PPK · Focal keratosis palmoplantaris

ORPHA:307837

Haim-Munk syndrome

Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome · Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome

ORPHA:2342

Hereditary palmoplantar keratoderma

Hereditary PPK · Hereditary keratosis palmoplantaris

ORPHA:79357

Huriez syndrome

Palmoplantar keratoderma-sclerodactyly syndrome · Palmoplantar hyperkeratosis-sclerodactyly syndrome

ORPHA:384

Isolated focal palmoplantar keratoderma

Isolated focal PPK · Isolated focal keratosis palmoplantaris

ORPHA:307846

Marginal papular palmoplantar keratoderma

Marginal papular palmoplantar hyperkeratosis

ORPHA:307995

Palmoplantar keratoderma-deafness syndrome

PPK-deafness syndrome · Palmoplantar hyperkeratosis-deafness syndrome

ORPHA:2202

Palmoplantar keratoderma-esophageal carcinoma syndrome

Bennion-Patterson syndrome · Howell-Evans syndrome

ORPHA:2198

Palmoplantar keratoderma-spastic paralysis syndrome

Palmoplantar hyperkeratosis-spastic paralysis syndrome · Powell-Venencie-Gordon syndrome

ORPHA:2201

Palmoplantar keratoderma, Nagashima type

PPK, Nagashima type · Palmoplantar hyperkeratosis, Nagashima type

ORPHA:140966

Papillon-Lefèvre syndrome

Keratosis palmoplantar-periodontopathy syndrome · PLS

ORPHA:678

Punctate palmoplantar keratoderma

Punctate PPK · Punctate keratosis palmoplantaris

ORPHA:307967

Punctate palmoplantar keratoderma type 2

PPKP2 · PPPP

ORPHA:79502

Schöpf-Schulz-Passarge syndrome

Eccrine tumors-ectodermal dysplasia · Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome

ORPHA:50944

Skin fragility-woolly hair-palmoplantar keratoderma syndrome

Skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome

ORPHA:293165

Woolly hair-palmoplantar keratoderma syndrome

Woolly hair-palmoplantar hyperkeratosis syndrome · KWWH type IV

ORPHA:420686