# MYH9-related disorder

> blood platelet disease that has material basis in mutations in the MYH9 gene. It is characterized by thrombocytopenia, enlarged platelets, sensorineural hearing loss and presenile cataract

**Wikidata**: [Q3843790](https://www.wikidata.org/wiki/Q3843790)  
**Source**: https://4ort.xyz/entity/myh9-related-disorder


## References

1. Disease Ontology
2. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000100345/EFO_0009646)
3. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000100345/Orphanet_182050)
4. [Identifiers.org](https://registry.identifiers.org/registry/doid)
5. UMLS 2023