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Waardenburg syndrome

Disease Summary
Associated Targets (10)
Tbio

6

Tclin

2

Tchem

1

Tdark

1


GARD Rare
Mondo Description Waardenburg syndrome (WS) is a disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes.
Disease Ontology Description An autosomal disease characterized by varying degrees of deafness, minor defects in structures arising from the neural crest and pigmentation anomalies of the hair, the skin and/or the iris of both eyes.
Mondo Term and Equivalent IDs
MONDO:0018094:  Waardenburg syndrome
GARD:0005525: 
NCIT:C85222: 
OMIMPS:193500: 
Orphanet:3440: 
SCTID:715952000: