Mondo Description Any Usher syndrome in which the cause of the disease is a mutation in the CIB2 gene.

Uniprot Description USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness.

Disease Ontology Description An Usher syndrome type 1 that has_material_basis_in caused by homozygous mutation in the CIB2 gene on chromosome 15q24.