# Treacher Collins syndrome

> human genetic disorder

**Wikidata**: [Q744790](https://www.wikidata.org/wiki/Q744790)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Treacher_Collins_syndrome)  
**Source**: https://4ort.xyz/entity/treacher-collins-syndrome


## References

1. [Nuovo soggettario](https://thes.bncf.firenze.sbn.it/termine.php?id=54618)
2. Disease Ontology
3. Monarch Disease Ontology release 2018-06-29
4. Freebase Data Dumps. 2013
5. Treacher Collins syndrome
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/3f91c5fe-8e58-4c98-9878-e428e2e41dd7--2019-09-17T16:00:00)
7. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3f91c5fe-8e58-4c98-9878-e428e2e41dd7-2019-09-17T160000.000Z)
8. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000070814/MONDO_0002457)
9. Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.
10. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000171453/MONDO_0002457)
11. [Identifiers.org](https://registry.identifiers.org/registry/doid)
12. Human Phenotype Ontology release 2018-03-08
13. KBpedia
14. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)