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"

26 matching diseasesClear search ×

Deaf blind hypopigmentation syndrome, Yemenite type

Warburg-Thomsen syndrome · Yemenite deaf-blind hypopigmentation syndrome

ORPHA:3214

Deafness-opticoacoustic nerve atrophy-dementia syndrome

Jensen syndrome · hearing loss-opticoacoustic nerve atrophy-dementia syndrome

ORPHA:3213

Early-onset parkinsonism-intellectual disability syndrome

Laxova-Opitz syndrome · Waisman syndrome

ORPHA:2379

External auditory canal atresia-vertical talus-hypertelorism syndrome

Rasmussen-Johnsen-Thomsen syndrome

ORPHA:3023

IBIDS syndrome

Tay syndrome · Trichothiodystrophy type E

ORPHA:453

Larsen syndrome

ORPHA:503

Micro syndrome

WARBM · Warburg micro syndrome

ORPHA:2510

Mosaic trisomy 8 syndrome

Warkany syndrome · Trisomy 8 mosaicism

ORPHA:96061

Mosaic variegated aneuploidy syndrome

Warburton-Anyane-Yeboa syndrome

ORPHA:1052

Multiple synostoses syndrome

Deafness-Hermann type symphalangism syndrome · Facio-audio-symphalangism

ORPHA:3237

Romano-Ward syndrome

Romano-Ward long QT syndrome

ORPHA:101016

Rothmund-Thomson syndrome

Poikiloderma of Rothmund-Thomson · RTS

ORPHA:2909

Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome

Synactyly-camptodactyly and clinodactyly of fifth fingers-bifid halluces syndrome · Wahab syndrome

ORPHA:357332

Thomas syndrome

Potter sequence-cleft lip/palate-cardiopathy syndrome

ORPHA:3316

Thrombocytopenia-absent radius syndrome

TAR syndrome

ORPHA:3320

Tricho-dento-osseous syndrome

TDO syndrome

ORPHA:3352

W syndrome

Pallister-W syndrome

ORPHA:2804

Waardenburg syndrome

ORPHA:3440

Waardenburg syndrome type 1

WS1 · Waardenburg syndrome type I

ORPHA:894

Waardenburg syndrome type 2

WS2 · Waardenburg syndrome type II

ORPHA:895

Waardenburg syndrome type 3

Klein-Waardenburg syndrome · WS3

ORPHA:896

Waardenburg-Shah syndrome

Shah-Waardenburg syndrome · WS4

ORPHA:897

Wagner disease

Dominant hyaloideoretinal dystrophy of Wagner · VCAN-related vitreoretinopathy

ORPHA:898

WAGR syndrome

Del(11)(p13) · Deletion 11p13

ORPHA:893

Walker-Warburg syndrome

HARD syndrome · Hydrocephalus-agyria-retinal dysplasia syndrome

ORPHA:899

Watson syndrome

Pulmonic stenosis with 'café-au-lait' spots

ORPHA:3444