# isolated microphthalmia 5

> Human disease

**Wikidata**: [Q28065641](https://www.wikidata.org/wiki/Q28065641)  
**Source**: https://4ort.xyz/entity/isolated-microphthalmia-5


## References

1. Disease Ontology
2. A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation
3. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000235718/Orphanet_251279)
4. [Identifiers.org](https://registry.identifiers.org/registry/doid)
5. UMLS 2023