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 ×

Keratosis palmaris et plantaris-clinodactyly syndrome

Palmoplantar keratoderma-clinodactyly syndrome

ORPHA:86919

Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome

Bart-Pumphrey syndrome · Knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome

ORPHA:2698

Leukoencephalopathy-palmoplantar keratoderma syndrome

ORPHA:2386

Lichen planopilaris

Follicular lichen planus · LPP

ORPHA:525

Lichen planus pemphigoides

LP pemphigoides

ORPHA:254478

Lichen planus pigmentosus

LP pigmentosa · LP pigmentosus

ORPHA:254463

Linear lichen planus

Blaschkoid LP · Blaschkoid lichen planus

ORPHA:254379

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

Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome

Ectodermal dysplasia-short stature syndrome · Short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome

ORPHA:423454

Non-transplant-related bronchiolitis obliterans

ORPHA:658612

OBSOLETE: Graft rejection after lung transplantation

ORPHA:91128

OBSOLETE: Rejection after corneal transplantation

ORPHA:90055

Palmoplantar keratoderma with tonotubular keratin

ORPHA:89833

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-hereditary motor and sensory neuropathy syndrome

Palmoplantar keratoderma-Charcot-Marie-Tooth syndrome

ORPHA:538574

Palmoplantar keratoderma-spastic paralysis syndrome

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

ORPHA:2201

Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome

Palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome

ORPHA:85112

Palmoplantar keratoderma, Nagashima type

PPK, Nagashima type · Palmoplantar hyperkeratosis, Nagashima type

ORPHA:140966

Palmoplantar porokeratosis of Mantoux

ORPHA:736

Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome

ORPHA:447961

Porokeratosis plantaris palmaris et disseminata

Palmar, plantar and disseminated porokeratosis

ORPHA:737

Post-transplant lymphoproliferative disease

PTLD

ORPHA:70568

Posttransplant acute limbic encephalitis

PALE

ORPHA:163921

Punctate palmoplantar keratoderma

Punctate PPK · Punctate keratosis palmoplantaris

ORPHA:307967

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

Pustulosis palmaris et plantaris

LPP · Localized pustular psoriasis

ORPHA:163927

Rare cutaneous lichen planus

Rare cutaneous LP

ORPHA:254370

Rare disorder potentially indicated for bowel transplant

ORPHA:506216

Rare disorder potentially indicated for heart transplant

ORPHA:506225

Rare disorder potentially indicated for hematopoietic stem cell transplant

ORPHA:506219

Rare disorder potentially indicated for kidney transplant

ORPHA:506213

Rare disorder potentially indicated for liver transplant

ORPHA:506210

Rare disorder potentially indicated for lung transplant

ORPHA:506222

Rare disorder potentially indicated for transplant

ORPHA:506207

Rare disorder potentially indicated for transplant or complication after transplantation

ORPHA:565779

Rare female infertility due to an implantation defect

ORPHA:399882

Rare lichen planus

Rare LP

ORPHA:254367

Rare mucosal lichen planus

Rare mucosal LP

ORPHA:254373

Recurrent hepatitis C virus induced liver disease in liver transplant recipients

ORPHA:90052

Skin fragility-woolly hair-palmoplantar keratoderma syndrome

Skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome

ORPHA:293165

Striate palmoplantar keratoderma

Keratosis palmoplantaris striata et areata · Keratosis palmoplantaris varians of Wachters

ORPHA:50942

Thost-Unna palmoplantar keratoderma

ORPHA:496

Transgrediens et progrediens palmoplantar keratoderma

Greither disease · Keratosis extremitatum hereditaria progrediens

ORPHA:495

Transplant-related bronchiolitis obliterans

Bronchiolitis obliterans syndrome · BOS

ORPHA:658602

Woolly hair-palmoplantar keratoderma syndrome

Woolly hair-palmoplantar hyperkeratosis syndrome · KWWH type IV

ORPHA:420686