Term Name: Usher syndrome type 2A
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 )

Relationships
is a type of: Usher syndrome type 2