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branchiootorenal syndrome 2
Disease Summary
Associated Targets (4)
Tbio
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.
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:0111424
OMIM:610896
UMLS:C1970479
MONDO:0012575
High level summary of knowledge for a disease, including descriptions and datasource references.