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Usher syndrome type 3A

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any Usher syndrome in which the cause of the disease is a mutation in the CLRN1 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). USH3 is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life.
Disease Ontology Description An Usher syndrome type 3 that has_material_basis_in homozygous or compound heterozygous mutation in the CLRN1 gene on chromosome 3q25.
Mondo Term and Equivalent IDs
MONDO:0010170:  Usher syndrome type 3A