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"

11 matching diseasesClear search ×

Waardenburg-Shah syndrome

Shah-Waardenburg syndrome · WS4

ORPHA:897

Haddad syndrome

Congenital central alveolar hypoventilation-Hirschsprung disease syndrome · Ondine-Hirschsprung disease

ORPHA:99803

Hirschsprung disease-deafness-polydactyly syndrome

Hirschsprung disease-hearing loss-polydactyly syndrome · Santos-Mateus-Leal syndrome

ORPHA:2155

Hirschsprung disease-type D brachydactyly syndrome

ORPHA:2150

Microphthalmia with limb anomalies

Anophthalmia-syndactyly syndrome · OAS

ORPHA:1106

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 syndrome type 3

Klein-Waardenburg syndrome · WS3

ORPHA:896

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

ORPHA:280