|OBO ID: DOID:0110838|
|Term Name:||Usher syndrome type 2A||Search Ontology:|
|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. https://www.ncbi.nlm.nih.gov/pubmed/9624053|
|Ontology:||Human Disease (DOID:0110838)|
|is a type of:||
OTHER Usher syndrome type 2A PAGES
PHENOTYPE No data available
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