# coloboma

> eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc

**Wikidata**: [Q1462309](https://www.wikidata.org/wiki/Q1462309)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Coloboma)  
**Source**: https://4ort.xyz/entity/coloboma


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. Nuovo soggettario
4. Freebase Data Dumps. 2013
5. [Source](http://www.patient.co.uk/patientplus/c.htm)
6. Mutations of the PAX6 Gene Detected in Patients with a Variety of Optic-Nerve Malformations
7. Mutation of SALL2 causes recessive ocular coloboma in humans and mice
8. BabelNet
9. [Identifiers.org](https://registry.identifiers.org/registry/doid)
10. Human Phenotype Ontology release 2018-03-08
11. UMLS 2023
12. Quora
13. Great Norwegian Encyclopedia
14. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)