# branchiootorenal syndrome

> autosomal dominant genetic disorder involving the kidneys, ears, and neck

**Wikidata**: [Q2280106](https://www.wikidata.org/wiki/Q2280106)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Branchio-oto-renal_syndrome)  
**Source**: https://4ort.xyz/entity/branchiootorenal-syndrome


## References

1. [Source](https://ddrare.nibiohn.go.jp/)
2. Disease Ontology
3. Monarch Disease Ontology release 2018-06-29
4. Freebase Data Dumps. 2013
5. Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000177045/Orphanet_107)
7. A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family
8. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/dca41ef6-ee63-4b1f-93d3-8b114dafcc58--2018-08-30T14:48:02)
9. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_dca41ef6-ee63-4b1f-93d3-8b114dafcc58-2018-08-30T144802.507Z)
10. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000104313/Orphanet_107)
11. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/e2587f3b-52e1-4765-a9ac-82d8cc5ae45b--2017-06-22T16:00:00)
12. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e2587f3b-52e1-4765-a9ac-82d8cc5ae45b-2017-06-22T160000.000Z)
13. [Identifiers.org](https://registry.identifiers.org/registry/doid)