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branchiootorenal syndrome 2

Disease Summary
Associated Targets (4)


Mondo Description Any branchio-oto-renal syndrome in which the cause of the disease is a mutation in the SIX5 gene.
Uniprot Description A syndrome characterized by branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, structural defects of the outer, middle or inner ear, and renal malformations.
Mondo Term and Equivalent IDs
MONDO:0012575:  branchiootorenal syndrome 2