# Tietz syndrome

> monogenic disease that is characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair that has material basis in mutation in the MITF gene on chromosome 3p13

**Wikidata**: [Q7801152](https://www.wikidata.org/wiki/Q7801152)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Tietz_syndrome)  
**Source**: https://4ort.xyz/entity/tietz-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. The mutational spectrum in Waardenburg syndrome.
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000187098/MONDO_0007077)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)
7. [Source](https://cdn.who.int/media/docs/default-source/classification/icd/icd-10/icd-10-to-meddra-map---june-2023---codes-mapping.xlsx)