# isolated microphthalmia 3

> microphthalmia characterized by clinical anophthalmia and/or microphthalmia that has material basis in compound heterozygous mutation in the RAX gene on chromosome 18q21

**Wikidata**: [Q28065646](https://www.wikidata.org/wiki/Q28065646)  
**Source**: https://4ort.xyz/entity/isolated-microphthalmia-3


## References

1. Disease Ontology
2. Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea
3. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000134438/Orphanet_2542)
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000119614/Orphanet_2542)
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000156466/Orphanet_2542)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000237412/Orphanet_2542)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)
8. UMLS 2023