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"

12 matching diseasesClear search ×

Waardenburg syndrome type 3

Klein-Waardenburg syndrome · WS3

ORPHA:896

B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome

EDS with short stature and limb anomalies · EDS progeroid type 1

ORPHA:75496

Microphthalmia with limb anomalies

Anophthalmia-syndactyly syndrome · OAS

ORPHA:1106

Müllerian duct anomalies-limb anomalies syndrome

ORPHA:2491

Ocular albinism with congenital sensorineural deafness

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

ORPHA:352740

Oromandibular-limb anomalies syndrome

ORPHA:156215

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

Neurologic Waardenburg-Shah syndrome · PCWH

ORPHA:163746

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

Zellweger-like syndrome without peroxisomal anomalies

Ahn-Lerman-Sagie syndrome

ORPHA:50812