# choroideremia

> rare, X-linked recessive form of hereditary retinal degeneration

**Wikidata**: [Q2397009](https://www.wikidata.org/wiki/Q2397009)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Choroideremia)  
**Source**: https://4ort.xyz/entity/choroideremia


## References

1. Disease Ontology
2. Human Phenotype Ontology release 2018-03-08
3. Freebase Data Dumps. 2013
4. Aberrant splicing of the CHM gene is a significant cause of choroideremia
5. Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)
7. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)