# osteogenesis imperfecta type 12

> osteogenesis imperfecta that has material basis in mutation in the SP7 gene on chromosome 12q13

**Wikidata**: [Q27677746](https://www.wikidata.org/wiki/Q27677746)  
**Source**: https://4ort.xyz/entity/osteogenesis-imperfecta-type-12


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta.
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)