# Chediak-Higashi syndrome

> rare autosomal recessive disorder related to lysossomal function and the CHS1 gene

**Wikidata**: [Q934034](https://www.wikidata.org/wiki/Q934034)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Chédiak–Higashi_syndrome)  
**Source**: https://4ort.xyz/entity/chediak-higashi-syndrome


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. Freebase Data Dumps. 2013
4. [Source](http://www.patient.co.uk/patientplus/c.htm)
5. UniProt
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/5d752f7c-43d2-4ba9-910f-f286f5443012--2020-05-27T16:00:00)
7. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5d752f7c-43d2-4ba9-910f-f286f5443012-2020-05-27T160000.000Z)
8. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000143669/MONDO_0008963)
9. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000143669/Orphanet_167)
10. [Identifiers.org](https://registry.identifiers.org/registry/doid)
11. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)