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"

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X-linked intellectual disability-cerebellar hypoplasia syndrome

OPHN1 syndrome · Oligophrenin-1 syndrome

ORPHA:137831

X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome

ORPHA:459070

X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome

ORPHA:85330

X-linked intellectual disability-craniofacioskeletal syndrome

ORPHA:163979

X-linked intellectual disability-cubitus valgus-dysmorphism syndrome

ORPHA:85280

X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome

Prieto-Badia-Mulas syndrome

ORPHA:2958

X-linked intellectual disability-epilepsy syndrome

ORPHA:2076

X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome

ORPHA:85319

X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome

Young-Hughes syndrome

ORPHA:3055

X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome

ORPHA:85329

X-linked intellectual disability-hypotonia-movement disorder syndrome

ORPHA:457260

X-linked intellectual disability-hypotonic face syndrome

ORPHA:73220

X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency

X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome

ORPHA:423479

X-linked intellectual disability-macrocephaly-macroorchidism syndrome

Johnson syndrome

ORPHA:85320

X-linked intellectual disability-monoamine oxidase A metabolism anomaly syndrome

ORPHA:3065

X-linked intellectual disability-plagiocephaly syndrome

Hyde Forster-McCarthy-Berry syndrome

ORPHA:2898

X-linked intellectual disability-psychosis-macroorchidism syndrome

Lindsay-Burn syndrome · PPM-X

ORPHA:3077

X-linked intellectual disability-retinitis pigmentosa syndrome

Aldred syndrome · Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion

ORPHA:85332

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