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Waardenburg syndrome type 2D

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SNAI2 gene.
Uniprot Description WS2 is a genetically heterogeneous, autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, and absence of dystopia canthorum. The frequency of deafness is higher in WS2 than in WS1.
Mondo Term and Equivalent IDs
MONDO:0012144:  Waardenburg syndrome type 2D
MESH:C563839: 
UMLS:C1837203: