# Kabuki syndrome

> rare disease

**Wikidata**: [Q1538227](https://www.wikidata.org/wiki/Q1538227)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Kabuki_syndrome)  
**Source**: https://4ort.xyz/entity/kabuki-syndrome


## References

1. [Source](http://www.nanbyou.or.jp/entry/4663)
2. [Source](https://ddrare.nibiohn.go.jp/)
3. Disease Ontology
4. Monarch Disease Ontology release 2018-06-29
5. Freebase Data Dumps. 2013
6. Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000147050/MONDO_0016512)
8. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
9. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000167548/MONDO_0016512)
10. [Identifiers.org](https://registry.identifiers.org/registry/doid)
11. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)