# Harboyan syndrome

> human disease

**Wikidata**: [Q9390246](https://www.wikidata.org/wiki/Q9390246)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Corneal_dystrophy-perceptive_deafness_syndrome)  
**Source**: https://4ort.xyz/entity/harboyan-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000088836/MONDO_0009015)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)