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"

33 matching diseasesClear search ×

Lelis syndrome

Ectodermal dysplasia-acanthosis nigricans syndrome

ORPHA:140936

Alveolar synechia-ankyloblepharon-ectodermal dysplasia syndrome

ORPHA:99694

AREDYLD syndrome

Acrorenal defect-ectodermal dysplasia-diabetes syndrome

ORPHA:1133

Arthrogryposis-ectodermal dysplasia syndrome

Stoll-Alembik-Finck syndrome

ORPHA:3200

Cerebellar ataxia-ectodermal dysplasia syndrome

ORPHA:1174

Cleft lip/palate-ectodermal dysplasia syndrome

CLPED1 · Cleft lip/palate-syndactyly-pili torti syndrome

ORPHA:3253

Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome

Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome · TEBC syndrome

ORPHA:708019

Contractures-ectodermal dysplasia-cleft lip/palate syndrome

Ladda-Zonana-Ramer syndrome

ORPHA:1484

Crouzon syndrome-acanthosis nigricans syndrome

Crouzon-dermoskeletal syndrome

ORPHA:93262

Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome

Beare-Stevenson cutis gyrata syndrome

ORPHA:1555

Ectodermal dysplasia syndrome

Ectodermal dysplasia

ORPHA:79373

Ectodermal dysplasia-blindness syndrome

ORPHA:1806

Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome

ORPHA:247827

Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome

ORPHA:247820

Ectodermal dysplasia-sensorineural deafness syndrome

Ectodermal dysplasia-sensorineural hearing loss syndrome

ORPHA:1883

Ectodermal dysplasia-skin fragility syndrome

McGrath syndrome

ORPHA:158668

Ectrodactyly-ectodermal dysplasia without clefting syndrome

EEC syndrome without cleft lip/palate

ORPHA:1888

EEC syndrome

Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome

ORPHA:1896

EEM syndrome

Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome

ORPHA:1897

Ellis Van Creveld syndrome

Chondroectodermal dysplasia · Mesodermic dysplasia

ORPHA:289

Hidrotic ectodermal dysplasia

Clouston syndrome

ORPHA:189

Hypohidrotic ectodermal dysplasia

HED

ORPHA:238468

Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome

ORPHA:210133

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

OBSOLETE: Cleft lip/palate-ectodermal dysplasia syndrome

ORPHA:320317

OBSOLETE: Ectodermal dysplasia-absent dermatoglyphs syndrome

OBSOLETE: Basan syndrome

ORPHA:1235

OBSOLETE: Tricho-oculo-dermo-vertebral syndrome

OBSOLETE: Ectodermal dysplasia-cataracts-kyphoscoliosis syndrome · OBSOLETE: Alves-dos Santos-Castelo syndrome

ORPHA:3354

Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome

Ectodermal dysplasia-adrenal cyst syndrome · Tuffli-Laxova syndrome

ORPHA:3391

Oligodontia-cancer predisposition syndrome

Autosomal dominant ectodermal dysplasia-cancer predisposition syndrome

ORPHA:300576

Pilodental dysplasia-refractive errors syndrome

Euhidrotic ectodermal dysplasia · Kopysc-Barczyk-Krol syndrome

ORPHA:2892

Pure hair and nail ectodermal dysplasia

HNED · Hair-nail ectodermal dysplasia

ORPHA:69084

Rapp-Hodgkin syndrome

Ectodermal dysplasia syndrome, Rapp-Hodgkin type · Ectodermal dysplasia, Rapp-Hodgkin type

ORPHA:3022

Severe achondroplasia-developmental delay-acanthosis nigricans syndrome

SADDAN

ORPHA:85165