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| http://purl.uniprot.org/keywords/836 | http://www.w3.org/2000/01/rdf-schema#comment | "Protein which, if defective, causes Usher syndrome, an autosomal recessive disorder characterized by sensorineural hearing loss and retinitis pigmentosa leading to visual impairment. There are three clinical subtypes: Usher syndrome type 1 (USH1), characterized by congenital profound deafness, constant vestibular dysfunction, and prepubertal onset of retinitis pigmentosa; Usher syndrome type 2 (USH2), associated with moderate to severe hearing loss, normal vestibular function, and onset of retinitis pigmentosa during the second decade of life; and Usher syndrome type 3 (USH3), characterized by progressive hearing loss, variable vestibular function, and adult onset retinitis pigmentosa."xsd:string |
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