FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Usher syndrome type 2A ID (Ontology) DOID:0110838 (Human Disease)
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.
Also Known As "USH2A" ; "Usher syndrome type IIA"
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 Genes
 Usher syndrome type 2A       2
 for disease ribbon | Usher syndrome type 2A       2
 model of | Usher syndrome type 2A       2
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  Usher syndrome
   |__Usher syndrome type 2
       |__Usher syndrome type 2A  2 rec.
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Is a Usher syndrome type 2
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Synonyms
  • "USH2A" EXACT OMO:0003012
    "Usher syndrome type IIA" EXACT
Secondary IDs
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GARD:5440
ICD10CM:H35.5
MIM:276901