Term Name: | Usher syndrome type 2A |
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Synonyms: | USH2A, Usher syndrome type IIA |
Definition: | An Usher syndrome type 2 characterized by moderate to severe sensorineural hearing loss, mainly affecting perception of high frequency sounds and progressive retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the USH2A gene on chromosome 1q41. |
Ontology: | Human Disease [DOID:0110838] ( DOID:0110838 ) |