# otofaciocervical syndrome

> medical condition

**Wikidata**: [Q55781325](https://www.wikidata.org/wiki/Q55781325)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Otofaciocervical_syndrome)  
**Source**: https://4ort.xyz/entity/otofaciocervical-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome
3. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000125813/MONDO_0008163)
4. Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000104313/MONDO_0008163)