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"

23 matching diseasesClear search ×

Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome

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

ORPHA:708019

AREDYLD syndrome

Acrorenal defect-ectodermal dysplasia-diabetes syndrome

ORPHA:1133

Arthrogryposis-ectodermal dysplasia syndrome

Stoll-Alembik-Finck syndrome

ORPHA:3200

Brachydactyly-elbow wrist dysplasia syndrome

Brachydactyly-joint dysplasia syndrome · Liebenberg syndrome

ORPHA:1275

Cerebellar ataxia-ectodermal dysplasia syndrome

ORPHA:1174

Cleft lip/palate-ectodermal dysplasia syndrome

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

ORPHA:3253

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-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

EEC syndrome and related disorders

EEC syndrome and related syndrome · Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome and related disorders

ORPHA:98609

EEM syndrome

Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome

ORPHA:1897

Exostoses-anetodermia-brachydactyly type E syndrome

ORPHA:1962

Kumar-Levick syndrome

Nail dysplasia-camptodactyly-brachydactyly type B syndrome

ORPHA:2355

Lelis syndrome

Ectodermal dysplasia-acanthosis nigricans syndrome

ORPHA:140936

Mononen-Karnes-Senac syndrome

Skeletal dysplasia-brachydactyly syndrome

ORPHA:2565

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

Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome

Ectodermal dysplasia-adrenal cyst syndrome · Tuffli-Laxova syndrome

ORPHA:3391

Rapp-Hodgkin syndrome

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

ORPHA:3022

Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome

SED-BDS · Tattoo dysplasia

ORPHA:163654