# COACH Syndrome

> a rare autosomal recessive disorder characterised by Cerebellar vermis hypoplasia, Oligophrenia (developmental delay/mental retardation), Ataxia, Coloboma, and Hepatic fibrosis.

**Wikidata**: [Q25326623](https://www.wikidata.org/wiki/Q25326623)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/COACH_syndrome)  
**Source**: https://4ort.xyz/entity/coach-syndrome


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000048342/Orphanet_1454)
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000103494/Orphanet_1454)
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000164953/Orphanet_1454)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)