# Young-Simpson syndrome

> Human disease

**Wikidata**: [Q8058422](https://www.wikidata.org/wiki/Q8058422)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Young–Simpson_syndrome)  
**Source**: https://4ort.xyz/entity/young-simpson-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. [Source](https://ddrare.nibiohn.go.jp/)
3. Disease Ontology
4. UniProt
5. Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000156650/MONDO_0011365)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000156650/Orphanet_3047)
8. [Identifiers.org](https://registry.identifiers.org/registry/doid)