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"

146 matching diseasesClear search ×

Neurofibromatosis-Noonan syndrome

NFNS · Neurofibromatosis type 1-Noonan syndrome

ORPHA:638

Neurofibromatosis/schwannomatosis

NF/SWN

ORPHA:634518

Neurolymphomatosis

ORPHA:206586

Nodular lichen myxedematosus

Atypical tuberous myxedema of Jadassohn-Dosseker

ORPHA:90393

Non-HFE-related hemochromatosis

ORPHA:648569

OBSOLETE: Acute cutaneous lupus erythematosus

ORPHA:163528

OBSOLETE: Bullous systemic lupus erythematosus

OBSOLETE: BSLE

ORPHA:46489

OBSOLETE: Familial segmental neurofibromatosis

ORPHA:79428

OBSOLETE: Familial spinal neurofibromatosis

ORPHA:79429

OBSOLETE: Genodermatosis with ocular features

ORPHA:98696

OBSOLETE: Hemochromatosis type 4

OBSOLETE: Ferroportin disease · OBSOLETE: Hemochromatosis due to defect in ferroportin

ORPHA:139491

OBSOLETE: Hemochromatosis type 5

ORPHA:447792

OBSOLETE: Neurofibromatosis

ORPHA:68388

OBSOLETE: Phakomatosis with eye involvement

ORPHA:98701

Odontomatosis-aortae esophagus stenosis syndrome

Bader syndrome

ORPHA:2724

Palmoplantar porokeratosis of Mantoux

ORPHA:736

Paraplegia-intellectual disability-hyperkeratosis syndrome

Fitzsimmons-McLachlan-Gilbert syndrome

ORPHA:2824

Pediatric systemic lupus erythematosus

Disseminated lupus erythematosus · Lupus

ORPHA:93552

Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome

PLACK syndrome

ORPHA:444138

Pemphigus erythematosus

Seborrheic pemphigus · Senear-Usher syndrome

ORPHA:79480

Phakomatosis cesioflammea

Phakomatosis pigmentovascularis type 2

ORPHA:79483

Phakomatosis cesiomarmorata

Phakomatosis pigmentovascularis type 5

ORPHA:79484

Phakomatosis pigmentokeratotica

ORPHA:2874

Phakomatosis pigmentovascularis

ORPHA:2875

Phakomatosis spilorosea

Phakomatosis pigmentovascularis type 3

ORPHA:79485

Porokeratosis

ORPHA:79358

Porokeratosis of Mibelli

ORPHA:735

Porokeratosis plantaris palmaris et disseminata

Palmar, plantar and disseminated porokeratosis

ORPHA:737

Pulmonary capillary hemangiomatosis

ORPHA:199241

Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis

ORPHA:431353

Rare cutaneous lupus erythematosus

ORPHA:535

Rare hereditary hemochromatosis

Iron overload disease

ORPHA:220489

Rare photodermatosis

Rare skin photosensitivity

ORPHA:79390

Reactive angioendotheliomatosis

RA · Cutaneous reactive dermatoses

ORPHA:673574

Recurrent respiratory papillomatosis

ORPHA:60032

Roch-Leri mesosomatous lipomatosis

ORPHA:529

Sebocystomatosis

Steatocystoma multiplex

ORPHA:841

Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome

SOLAMEN syndrome

ORPHA:137608

SLC40A1-related hemochromatosis

ORPHA:647834

Somatostatinoma

ORPHA:97283

Subacute cutaneous lupus erythematosus

ORPHA:163525

Subcorneal pustular dermatosis

Subcorneal pustular dermatitis · Pustulosis subcornealis

ORPHA:48377

Superficial fibromatosis

ORPHA:199257

Symptomatic form of HFE-related hemochromatosis

Symptomatic form of classic hemochromatosis · Symptomatic form of hemochromatosis type 1

ORPHA:465508

Systemic cystic angiomatosis-Seip syndrome

Brunzell syndrome

ORPHA:1060

Systemic lupus erythematosus

Disseminated lupus erythematosus · Lupus

ORPHA:536

TFR2-related hemochromatosis

Hereditary hemochromatosis type 3

ORPHA:225123

Toxic dermatosis

ORPHA:293815