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"

180 matching diseasesClear search ×

Woodhouse-Sakati syndrome

Diabetes-hypogonadism-deafness-intellectual disability syndrome · Diabetes-hypogonadism-hearing loss-intellectual disability syndrome

ORPHA:3464

X-linked alpha-thalassemia-intellectual disability syndrome

ATR-X syndrome

ORPHA:847

X-linked cerebral-cerebellar-coloboma syndrome

X-linked intellectual disability, Kroes type

ORPHA:163961

X-linked intellectual disability-acromegaly-hyperactivity syndrome

ORPHA:85327

X-linked intellectual disability-ataxia-apraxia syndrome

ORPHA:85338

X-linked intellectual disability-epilepsy syndrome

ORPHA:2076

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

ORPHA:85319

X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome

ORPHA:85317

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

ORPHA:85329

X-linked intellectual disability-hypotonic face syndrome

ORPHA:73220

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-spastic quadriparesis syndrome

ORPHA:163982

X-linked intellectual disability, Abidi type

ORPHA:85273

X-linked intellectual disability, Cantagrel type

ORPHA:85277

X-linked intellectual disability, Fichera type

ORPHA:93944

X-linked intellectual disability, Gu type

MRX35

ORPHA:3059

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, 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, Stoll type

ORPHA:85326

X-linked intellectual disability, Turner type

ORPHA:85328

X-linked intellectual disability, Van Esch type

ORPHA:163976

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