# congenital hereditary endothelial dystrophy of cornea

> Human disease

**Wikidata**: [Q4127191](https://www.wikidata.org/wiki/Q4127191)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Congenital_hereditary_endothelial_dystrophy)  
**Source**: https://4ort.xyz/entity/congenital-hereditary-endothelial-dystrophy-of-cornea


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2).
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000088836/MONDO_0009019)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)