# branchiooculofacial syndrome

> autosomal dominant disease that is characterized by low birth weight and growth retardation, bilateral branchial clefts

**Wikidata**: [Q9390211](https://www.wikidata.org/wiki/Q9390211)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Branchio-oculo-facial_syndrome)  
**Source**: https://4ort.xyz/entity/branchiooculofacial-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. TFAP2A mutations result in branchio-oculo-facial syndrome
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000137203/MONDO_0007235)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)