# Marinesco-Sjogren syndrome

> Marinesco-Sjogren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.

**Wikidata**: [Q2628677](https://www.wikidata.org/wiki/Q2628677)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Marinesco–Sjögren_syndrome)  
**Source**: https://4ort.xyz/entity/marinesco-sjogren-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. [Source](https://ddrare.nibiohn.go.jp/)
3. Disease Ontology
4. Freebase Data Dumps. 2013
5. UniProt
6. The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000120725/MONDO_0009567)
8. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000120725/Orphanet_559)
9. YSO-Wikidata mapping project
10. [Identifiers.org](https://registry.identifiers.org/registry/doid)