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"

123 matching diseasesClear search ×

OBSOLETE: X-linked dominant intellectual disability-epilepsy syndrome

ORPHA:93951

OBSOLETE: X-linked intellectual disability-obesity-short stature syndrome

ORPHA:85331

OBSOLETE: X-linked intellectual disability-precocious puberty-obesity syndrome

ORPHA:85318

OBSOLETE: X-linked intellectual disability, Martinez type

ORPHA:775

OBSOLETE: X-linked intellectual disability, Raynaud type

ORPHA:3061

OBSOLETE: X-linked intellectual disability, Schutz type

ORPHA:3062

OBSOLETE: X-linked intellectual disability, Wittner type

ORPHA:3064

OBSOLETE: X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome

ORPHA:83648

Partington syndrome

Partington-Mulley syndrome · X-linked intellectual disability-dystonia-dysarthria syndrome

ORPHA:94083

Proximal Xq28 duplication syndrome

MECP2 duplication syndrome · X-linked intellectual disability syndrome, Lubs type

ORPHA:1762

Rare genetic intellectual disability

ORPHA:183757

Rare intellectual disability

ORPHA:87277

Rare syndromic intellectual disability

ORPHA:102369

Renpenning syndrome

X-linked intellectual disability due to PQBP1 mutations · X-linked intellectual disability, Renpenning type

ORPHA:3242

Severe X-linked intellectual disability, Gustavson type

Gustavson syndrome

ORPHA:3078

Syndromic X-linked intellectual disability 7

MRXS7 · X-linked intellectual disability, Ahmad type

ORPHA:85274

Vasquez-Hurst-Sotos syndrome

Hypogonadism-gynecomastia-X-linked intellectual disability syndrome

ORPHA:3423

Wilson-Turner syndrome

WTS · X-linked intellectual disability-gynecomastia-obesity syndrome

ORPHA:3459

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 due to GRIA3 mutations

ORPHA:364028

X-linked intellectual disability with isolated growth hormone deficiency

MRGH

ORPHA:67045

X-linked intellectual disability-acromegaly-hyperactivity syndrome

ORPHA:85327

X-linked intellectual disability-ataxia-apraxia syndrome

ORPHA:85338

X-linked intellectual disability-cerebellar hypoplasia syndrome

OPHN1 syndrome · Oligophrenin-1 syndrome

ORPHA:137831

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-hypogonadism-ichthyosis-obesity-short stature syndrome

Young-Hughes syndrome

ORPHA:3055

X-linked intellectual disability-hypotonia-movement disorder syndrome

ORPHA:457260

X-linked intellectual disability-hypotonic face syndrome

ORPHA:73220

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 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