Usher syndrome type 2C

Term ID

DOID:0110839

Synonyms

• USH2C
• Usher syndrome IIC
• Usher syndrome type IIC

Definition

An Usher syndrome type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the ADGRV1 gene on chromosome 5q14. https://www.ncbi.nlm.nih.gov/pubmed/14740321

References

• ICD10CM:H35.5
• OMIM:605472

Ontology

Human Disease   ( DOID:0110839 )