# Usher syndrome type 1C

> Usher syndrome type 1 that has material basis in homozygous or compound heterozygous mutation in the USH1C gene on chromosome 11p15

**Wikidata**: [Q32143522](https://www.wikidata.org/wiki/Q32143522)  
**Source**: https://4ort.xyz/entity/usher-syndrome-type-1c


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000006611/MONDO_0010171)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)