# Usher syndrome type 2C

> Usher syndrome type 2 that has material basis in homozygous or compound heterozygous mutation in the ADGRV1 gene on chromosome 5q14

**Wikidata**: [Q32143643](https://www.wikidata.org/wiki/Q32143643)  
**Source**: https://4ort.xyz/entity/usher-syndrome-type-2c


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II
5. PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/5663)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)