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"

135 matching diseasesClear search ×

X-linked intellectual disability-seizures-psoriasis syndrome

Tranebjaerg-Svejgaard syndrome

ORPHA:3052

X-linked intellectual disability-short stature-overweight syndrome

ORPHA:457240

X-linked intellectual disability-spastic paraplegia with iron deposits syndrome

Arena syndrome

ORPHA:85333

X-linked intellectual disability-spastic quadriparesis syndrome

ORPHA:163982

X-linked intellectual disability, Abidi type

ORPHA:85273

X-linked intellectual disability, Armfield type

Armfield syndrome

ORPHA:85276

X-linked intellectual disability, Brooks type

ORPHA:3056

X-linked intellectual disability, Cabezas type

Cabezas syndrome

ORPHA:85293

X-linked intellectual disability, Cantagrel type

ORPHA:85277

X-linked intellectual disability, Cilliers type

X-linked intellectual disability-microcephaly-testicular failure syndrome

ORPHA:163971

X-linked intellectual disability, Fichera type

ORPHA:93944

X-linked intellectual disability, Golabi-Ito-Hall type

ORPHA:93947

X-linked intellectual disability, Gu type

MRX35

ORPHA:3059

X-linked intellectual disability, Hedera type

MRXSH

ORPHA:93952

X-linked intellectual disability, Miles-Carpenter type

ORPHA:85283

X-linked intellectual disability, Najm type

MICPCH · X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome

ORPHA:163937

X-linked intellectual disability, Nascimento type

X-linked intellectual disability-nail dystrophy-seizures syndrome

ORPHA:163956

X-linked intellectual disability, Pai type

ORPHA:85322

X-linked intellectual disability, Porteous type

ORPHA:93945

X-linked intellectual disability, Raymond type

ORPHA:163953

X-linked intellectual disability, Schimke type

ORPHA:85285

X-linked intellectual disability, Seemanova type

ORPHA:85323

X-linked intellectual disability, Shashi type

Syndromic X-linked intellectual disability type 11

ORPHA:85286

X-linked intellectual disability, Shrimpton type

MRXS9

ORPHA:85324

X-linked intellectual disability, Siderius type

ORPHA:85287

X-linked intellectual disability, Snyder type

Snyder-Robinson syndrome

ORPHA:3063

X-linked intellectual disability, Stevenson type

ORPHA:85325

X-linked intellectual disability, Stocco Dos Santos type

ORPHA:85288

X-linked intellectual disability, Stoll type

ORPHA:85326

X-linked intellectual disability, Sutherland-Haan type

ORPHA:93950

X-linked intellectual disability, Turner type

ORPHA:85328

X-linked intellectual disability, Van Esch type

ORPHA:163976

X-linked intellectual disability, Vitale type

ORPHA:85289

X-linked intellectual disability, Wilson type

ORPHA:85290

X-linked intellectual disability, Wittwer type

Wittwer syndrome

ORPHA:85291

X-linked intellectual disability, Zorick type

ORPHA:85337

X-linked non-syndromic intellectual disability

ORPHA:777

X-linked skeletal dysplasia-intellectual disability syndrome

Christian syndrome

ORPHA:1436

X-linked spasticity-intellectual disability-epilepsy syndrome

ORPHA:3175