# Cataract-microcornea syndrome

> Cataract-microcornea syndrome is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism

**Wikidata**: [Q18589315](https://www.wikidata.org/wiki/Q18589315)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Cataract-microcornea_syndrome)  
**Source**: https://4ort.xyz/entity/cataract-microcornea-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2
3. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000244752/Orphanet_1377)
4. Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000160202/Orphanet_1377)
6. Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000121634/Orphanet_1377)