# Spondylo-ocular syndrome

> medical condition

**Wikidata**: [Q25344755](https://www.wikidata.org/wiki/Q25344755)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Spondylo-ocular_syndrome)  
**Source**: https://4ort.xyz/entity/spondylo-ocular-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. UniProt
3. Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000015532/MONDO_0011604)
5. [Source](https://cdn.who.int/media/docs/default-source/classification/icd/icd-10/icd-10-to-meddra-map---june-2023---codes-mapping.xlsx)