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"

44 matching diseasesClear search ×

Rapp-Hodgkin syndrome

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

ORPHA:3022

Amelo-onycho-hypohidrotic syndrome

Ameloonychohypohidrotic ectodermal dysplasia · Ameloonychohypohidrotic syndrome

ORPHA:1028

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

AEC syndrome · Hay-Wells syndrome

ORPHA:1071

AREDYLD syndrome

Acrorenal defect-ectodermal dysplasia-diabetes syndrome

ORPHA:1133

Arthrogryposis-ectodermal dysplasia syndrome

Stoll-Alembik-Finck syndrome

ORPHA:3200

Autosomal dominant hypohidrotic ectodermal dysplasia

AD-HED

ORPHA:1810

Autosomal recessive hypohidrotic ectodermal dysplasia

AR-HED

ORPHA:248

Bamforth-Lazarus syndrome

Athyroidal hypothyroidism-spiky hair-cleft palate syndrome · Bamforth syndrome

ORPHA:1226

Blepharo-cheilo-odontic syndrome

BCD syndrome · Blepharocheilodontic syndrome

ORPHA:1997

Cerebellar ataxia-ectodermal dysplasia syndrome

ORPHA:1174

Cleft lip/palate

Alveolar cleft lip and palate · Cleft lip and palate

ORPHA:199306

Cleft lip/palate-deafness-sacral lipoma syndrome

Cleft lip/palate-hearing loss-sacral lipoma syndrome · Lowry-Yong syndrome

ORPHA:2003

Cleft lip/palate-ectodermal dysplasia syndrome

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

ORPHA:3253

Cleft palate-lateral synechia syndrome

CPLS syndrome

ORPHA:2016

Contractures-ectodermal dysplasia-cleft lip/palate syndrome

Ladda-Zonana-Ramer syndrome

ORPHA:1484

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-cleft palate syndrome

ECP syndrome

ORPHA:1889

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

Hartsfield syndrome

Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome

ORPHA:2117

Hidrotic ectodermal dysplasia

Clouston syndrome

ORPHA:189

Hidrotic ectodermal dysplasia, Christianson-Fourie type

Christianson-Fourie syndrome

ORPHA:1808

Hidrotic ectodermal dysplasia, Halal type

Halal-Setton-Wang syndrome · Trichodysplasia-abnormal dermatoglyphics-intellectual disability syndrome

ORPHA:1809

Hypohidrotic ectodermal dysplasia

HED

ORPHA:238468

Hypohidrotic ectodermal dysplasia with immunodeficiency

HED-ID

ORPHA:98813

Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome

HEDH syndrome · ANOTHER syndrome

ORPHA:1882

Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome

OL-HED-ID

ORPHA:69088

Hypopituitarism-micropenis-cleft lip/palate syndrome

ORPHA:2243

Lelis syndrome

Ectodermal dysplasia-acanthosis nigricans syndrome

ORPHA:140936

Lewis-Pashayan syndrome

Cleft lip/palate-ectrodactyly syndrome

ORPHA:2389

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

Pilodental dysplasia-refractive errors syndrome

Euhidrotic ectodermal dysplasia · Kopysc-Barczyk-Krol syndrome

ORPHA:2892

X-linked hypohidrotic ectodermal dysplasia

Christ-Siemens-Touraine syndrome · XHED

ORPHA:181