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"

20 matching diseasesClear search ×

Waardenburg syndrome type 3

Klein-Waardenburg syndrome · WS3

ORPHA:896

Deaf blind hypopigmentation syndrome, Yemenite type

Warburg-Thomsen syndrome · Yemenite deaf-blind hypopigmentation syndrome

ORPHA:3214

Hallux varus-preaxial polysyndactyly syndrome

Kleiner-Holmes syndrome

ORPHA:2110

Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome

KLICK syndrome

ORPHA:281201

Kleefstra syndrome

ORPHA:261494

Kleine-Levin syndrome

ORPHA:33543

Marden-Walker syndrome

ORPHA:2461

Micro syndrome

WARBM · Warburg micro syndrome

ORPHA:2510

Microphthalmia with limb anomalies

Anophthalmia-syndactyly syndrome · OAS

ORPHA:1106

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

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

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

ORPHA:357332

Treacher-Collins syndrome

Franceschetti-Klein syndrome · Mandibulofacial dysostosis without limb anomalies

ORPHA:861

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-Shah syndrome

Shah-Waardenburg syndrome · WS4

ORPHA:897

WAGR syndrome

Del(11)(p13) · Deletion 11p13

ORPHA:893

Walker-Warburg syndrome

HARD syndrome · Hydrocephalus-agyria-retinal dysplasia syndrome

ORPHA:899