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"

9 matching diseasesClear search ×

Ocular albinism with congenital sensorineural deafness

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

ORPHA:352740

Autosomal dominant otospondylomegaepiphyseal dysplasia

AD OSMED · Stickler syndrome type 3

ORPHA:166100

Microphthalmia with limb anomalies

Anophthalmia-syndactyly syndrome · OAS

ORPHA:1106

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

X-linked recessive ocular albinism

OA1 · Ocular albinism type 1

ORPHA:54