# Rubinstein-Taybi syndrome

> rare disease

**Wikidata**: [Q666980](https://www.wikidata.org/wiki/Q666980)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Rubinstein–Taybi_syndrome)  
**Source**: https://4ort.xyz/entity/rubinstein-taybi-syndrome


## References

1. [Source](http://www.nanbyou.or.jp/entry/4068)
2. [Source](https://ddrare.nibiohn.go.jp/)
3. Disease Ontology
4. Monarch Disease Ontology release 2018-06-29
5. Freebase Data Dumps. 2013
6. Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease
7. Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP
8. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000005339/MONDO_0019188)
9. [Identifiers.org](https://registry.identifiers.org/registry/doid)
10. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)