# cataract 12 multiple types

> cataract that has material basis in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22

**Wikidata**: [Q27674880](https://www.wikidata.org/wiki/Q27674880)  
**Source**: https://4ort.xyz/entity/cataract-12-multiple-types


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2
5. A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000170819/MONDO_0012701)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)