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"

31 matching diseasesClear search ×

Disease with focal palmoplantar keratoderma as a major feature

Disease with focal palmoplantar hyperkeratosis as a major feature

ORPHA:307871

Acrokeratoelastoidosis of Costa

AKE · PPKP3

ORPHA:38

Autosomal dominant diffuse mutilating palmoplantar keratoderma

Autosomal dominant diffuse mutilating palmoplantar hyperkeratosis

ORPHA:307773

Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature

Autosomal dominant disease associated with punctate palmoplantar hyperkeratosis as a major feature

ORPHA:308031

Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature

Autosomal recessive disease associated with punctate palmoplantar hyperkeratosis as a major feature

ORPHA:308041

Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature

Autosomal recessive disease with diffuse palmoplantar hyperkeratosis as a major feature

ORPHA:307804

Diffuse palmoplantar keratoderma

Diffuse PPK · Diffuse keratosis palmoplantaris

ORPHA:307141

Diffuse palmoplantar keratoderma-acrocyanosis syndrome

Diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome

ORPHA:86918

Disease with diffuse palmoplantar keratoderma as a major feature

Disease with diffuse palmoplantar hyperkeratosis as a major feature

ORPHA:307711

Disease with punctate palmoplantar keratoderma as a major feature

Disease with punctate palmoplantar hyperkeratosis as a major feature

ORPHA:308023

Focal palmoplantar and gingival keratoderma

Focal palmoplantar and gingival hyperkeratosis

ORPHA:2200

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

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

Naxos disease

KWWH type I · Keratoderma with woolly hair type I

ORPHA:34217

OBSOLETE: Heredodegenerative disease with dystonia as a major feature

ORPHA:98204

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

Rare disease with adrenal Cushing syndrome as a major feature

ORPHA:314749

Rare disease with glaucoma as a major feature

ORPHA:98638

Rare disease with myoclonus as a major feature

ORPHA:306753

Rare disorder with Hirschsprung disease as a major feature

ORPHA:557866

Rare genetic disease with myoclonus as a major feature

ORPHA:307067

Systemic disease with glomerulopathy as a major feature

ORPHA:567554