# Crouzon syndrome

> Congenital disorder of the skull and face

**Wikidata**: [Q779250](https://www.wikidata.org/wiki/Q779250)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Crouzon_syndrome)  
**Source**: https://4ort.xyz/entity/crouzon-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. [Source](https://ddrare.nibiohn.go.jp/)
3. [Source](https://github.com/JohnMarkOckerbloom/ftl/blob/master/data/wikimap)
4. Disease Ontology
5. Freebase Data Dumps. 2013
6. UniProt
7. Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome
8. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c2cfa70a-750f-4357-98b9-f5c30ca4dc26-2021-12-23T165345.170Z)
9. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000066468/MONDO_0007405)
10. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000066468/Orphanet_207)
11. YSO-Wikidata mapping project
12. [Identifiers.org](https://registry.identifiers.org/registry/doid)
13. Human Phenotype Ontology release 2018-03-08
14. Great Norwegian Encyclopedia
15. National Library of Israel Names and Subjects Authority File
16. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)