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Waardenburg-Shah syndrome

Disease Summary
Associated Targets (4)
Tbio

3

Tclin

1


GARD Rare
Mondo Description Waardenburg-Shah syndrome (WSS) is a neurocristopathy characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease.
Mondo Term and Equivalent IDs
MONDO:0019518:  Waardenburg-Shah syndrome
GARD:0005524: 
NCIT:C124842: 
Orphanet:897: 
UMLS:CN206330: