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Waardenburg syndrome type 2E
Disease Summary
Associated Targets (3)
Tbio
2
Tchem
1
Mondo Description Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SOX10 gene.
Uniprot Description An autosomal dominant auditory-pigmentary disorder characterized by sensorineural deafness, pigmentary disturbances of the hair, skin and eyes, and absence of dystopia canthorum which is the lateral displacement of the inner canthus of each eye. Individuals with WS2E may have neurologic abnormalities, including mental impairment, myelination defects, and ataxia. Some patients can manifest features of Kallmann syndrome.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0110956
OMIM:611584
UMLS:C2700405
MONDO:0012698
High level summary of knowledge for a disease, including descriptions and datasource references.