# Usher syndrome type 2D

> human disease

**Wikidata**: [Q32143660](https://www.wikidata.org/wiki/Q32143660)  
**Source**: https://4ort.xyz/entity/usher-syndrome-type-2d


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/8151)
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8151)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)