# branchiootic syndrome

> syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. Mutations of the EYA1, SIX1 and SIX5 genes are associated with the syndrome

**Wikidata**: [Q18966109](https://www.wikidata.org/wiki/Q18966109)  
**Source**: https://4ort.xyz/entity/branchiootic-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000126778/Orphanet_52429)
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000104313/Orphanet_52429)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)