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"

97 matching diseasesClear search ×

Infantile neuroaxonal dystrophy

INAD · INAD1

ORPHA:35069

PLA2G6-associated neurodegeneration

PLAN

ORPHA:329303

Distal arthrogryposis type 10

DA10 · Plantar flexion contracture

ORPHA:251515

Ledderhose disease

Plantar fibromatosis

ORPHA:199251

Pierpont syndrome

Plantar lipomatosis-facial dysmorphism-developmental delay syndrome · Plantar lipomatosis-unusual facies-developmental delay syndrome

ORPHA:487825

Actinic lichen planus

Actinic LP · Lichen planus actinus

ORPHA:254395

Annular atrophic lichen planus

Annular atrophic LP

ORPHA:254411

Annular lichen planus

Annular LP

ORPHA:254424

Aquagenic palmoplantar keratoderma

Aquagenic keratoderma · Transient reactive papulotranslucent acrokeratoderma

ORPHA:498359

Atrophic lichen planus

Atrophic LP

ORPHA:254449

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 dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering

ORPHA:402003

Autosomal dominant palmoplantar keratoderma and congenital alopecia

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

ORPHA:1010

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

Autosomal recessive palmoplantar keratoderma and congenital alopecia

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

ORPHA:1366

Breast implant-associated anaplastic large cell lymphoma

Breast implant-associated ALCL · Seroma-associated ALCL

ORPHA:667662

Bullous lichen planus

ORPHA:33408

Circumscribed palmoplantar hypokeratosis

Circumscribed acral hypokeratosis

ORPHA:69744

Complication after organ transplantation

ORPHA:306644

Complications after hematopoietic stem cell transplantation

Complications after HSCT

ORPHA:90053

Congenital cornea plana

ORPHA:53691

Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome

ORPHA:352662

De novo thrombotic microangiopathy after kidney transplantation

ORPHA:244275

Diffuse palmoplantar keratoderma

Diffuse PPK · Diffuse keratosis palmoplantaris

ORPHA:307141

Diffuse palmoplantar keratoderma with painful fissures

ORPHA:369999

Diffuse palmoplantar keratoderma-acrocyanosis syndrome

Diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome

ORPHA:86918

Diffuse palmoplantar keratoderma, Bothnian type

Diffuse palmoplantar keratoderma, Bothnia type · NEPPK, Bothnian type

ORPHA:2337

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

Ectodermal dysplasia-natal teeth-skin abscesses-plantar hyperkeratosis-hearing impairment

ORPHA:708014

Epidermolytic palmoplantar keratoderma

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

ORPHA:2199

Female infertility due to an implantation defect of genetic origin

ORPHA:400025

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

Hepatitis B reinfection following liver transplantation

ORPHA:90073

Hereditary palmoplantar keratoderma

Hereditary PPK · Hereditary keratosis palmoplantaris

ORPHA:79357

Hereditary palmoplantar keratoderma, Gamborg-Nielsen type

Hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type · PPK, Gamborg-Nielsen type

ORPHA:86923

Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome

Shaheen syndrome

ORPHA:363523

Hypopigmentation-punctate palmoplantar keratoderma syndrome

Cole disease · Guttate hypopigmentation and punctate palmoplantar keratoderma

ORPHA:324561

Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome

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

ORPHA:307936

Isolated diffuse palmoplantar keratoderma

Isolated diffuse PPK · Isolated diffuse keratosis palmoplantaris

ORPHA:307148

Isolated focal non-epidermolytic palmoplantar keratoderma

ORPHA:448264

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