# mandibulofacial dysostosis with alopecia

> syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia

**Wikidata**: [Q21124526](https://www.wikidata.org/wiki/Q21124526)  
**Source**: https://4ort.xyz/entity/mandibulofacial-dysostosis-with-alopecia


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000151617/MONDO_0014608)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)