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"

27 matching diseasesClear search ×

Waardenburg-Shah syndrome

Shah-Waardenburg syndrome · WS4

ORPHA:897

Deaf blind hypopigmentation syndrome, Yemenite type

Warburg-Thomsen syndrome · Yemenite deaf-blind hypopigmentation syndrome

ORPHA:3214

Early-onset parkinsonism-intellectual disability syndrome

Laxova-Opitz syndrome · Waisman syndrome

ORPHA:2379

Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome

Ferlini-Ragno-Calzolari syndrome · Waaler-Aarskog syndrome

ORPHA:2180

Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome

Shaheen syndrome

ORPHA:363523

Laryngo-onycho-cutaneous syndrome

LOGIC syndrome · Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome

ORPHA:2407

Marden-Walker syndrome

ORPHA:2461

Micro syndrome

WARBM · Warburg micro syndrome

ORPHA:2510

Microphthalmia with limb anomalies

Anophthalmia-syndactyly syndrome · OAS

ORPHA:1106

Mixed connective tissue disease

MCTD · Sharp syndrome

ORPHA:809

Mosaic trisomy 8 syndrome

Warkany syndrome · Trisomy 8 mosaicism

ORPHA:96061

Multiple synostoses syndrome

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

ORPHA:3237

Ocular albinism with congenital sensorineural deafness

Waardenburg syndrome type 2 with ocular albinism · Ocular albinism with congenital sensorineural hearing loss

ORPHA:352740

Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease

Neurologic Waardenburg-Shah syndrome · PCWH

ORPHA:163746

Romano-Ward syndrome

Romano-Ward long QT syndrome

ORPHA:101016

Spontaneous periodic hypothermia

Episodic spontaneous hypothermia · Shapiro syndrome

ORPHA:29822

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

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

ORPHA:357332

Van den Ende-Gupta syndrome

Marden-Walker-like syndrome · VDEGS

ORPHA:2460

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

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