Usher syndrome
cv_term_accession
KW-0836
canonical
uniprot_keyword
KW-0836
canonical
name
Usher syndrome
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synonym
Sensorineural deafness with retinitis pigmentosa
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synonym
Usher's syndrome
uniprot
definition
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.
uniprot
keywords
is_obsolete
false
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keywords
ontology_id
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uniprot
keywords