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"

14 matching diseasesClear search ×

Autosomal dominant palmoplantar keratoderma and congenital alopecia

Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia · PPK-CA, Stevanovic type

ORPHA:1010

Acrokeratoelastoidosis of Costa

AKE · PPKP3

ORPHA:38

Aquagenic palmoplantar keratoderma

Aquagenic keratoderma · Transient reactive papulotranslucent acrokeratoderma

ORPHA:498359

Autosomal recessive palmoplantar keratoderma and congenital alopecia

Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia · Cataract-alopecia-sclerodactyly syndrome

ORPHA:1366

Diffuse palmoplantar keratoderma, Bothnian type

Diffuse palmoplantar keratoderma, Bothnia type · NEPPK, Bothnian type

ORPHA:2337

Focal palmoplantar and gingival keratoderma

Focal palmoplantar and gingival hyperkeratosis

ORPHA:2200

Focal palmoplantar keratoderma

Focal PPK · Focal keratosis palmoplantaris

ORPHA:307837

Hereditary palmoplantar keratoderma

Hereditary PPK · Hereditary keratosis palmoplantaris

ORPHA:79357

Mutilating palmoplantar keratoderma with periorificial keratotic plaques

Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques · Olmsted syndrome

ORPHA:659

Palmoplantar keratoderma, Nagashima type

PPK, Nagashima type · Palmoplantar hyperkeratosis, Nagashima type

ORPHA:140966

Punctate palmoplantar keratoderma type 1

Buschke-Fischer-Brauer syndrome · Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type

ORPHA:79501

Punctate palmoplantar keratoderma type 2

PPKP2 · PPPP

ORPHA:79502

Striate palmoplantar keratoderma

Keratosis palmoplantaris striata et areata · Keratosis palmoplantaris varians of Wachters

ORPHA:50942

Thost-Unna palmoplantar keratoderma

ORPHA:496