# familial cavitary optic disc anomaly

> human disease

**Wikidata**: [Q55783820](https://www.wikidata.org/wiki/Q55783820)  
**Source**: https://4ort.xyz/entity/familial-cavitary-optic-disc-anomaly


## References

1. Monarch Disease Ontology release 2018-06-29
2. UniProt
3. Heterozygous triplication of upstream regulatory sequences leads to dysregulation of matrix metalloproteinase 19 in patients with cavitary optic disc anomaly