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Usher syndrome type 3B
Disease Summary
Associated Targets (1)
Tchem
1
Mondo Description Any Usher syndrome in which the cause of the disease is a mutation in the HARS gene.
Uniprot Description A syndrome characterized by progressive vision and hearing loss during early childhood. Some patients have the so-called 'Charles Bonnet syndrome,' involving decreased visual acuity and vivid visual hallucinations. 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 mutation in the HARS gene on chromosome 5q31.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0110842
OMIM:614504
UMLS:C3281066
MONDO:0013788
High level summary of knowledge for a disease, including descriptions and datasource references.