FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term bestrophinopathy ID (Ontology) DOID:0050662 (Human Disease)
Definition A macular degeneration that is characterized by central vision loss, an absent electrooculogram light rise and a reduced electroretinogram, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the BEST1 gene on chromosome 11q12.
Also Known As "autosomal recessive bestrophinopathy"
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 bestrophinopathy       4
 for disease ribbon | bestrophinopathy       4
 model of | bestrophinopathy       4
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  retinal degeneration
   |__macular degeneration
       |__bestrophinopathy  4 rec.
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Is a macular degeneration
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Synonyms
  • "autosomal recessive bestrophinopathy" EXACT
Secondary IDs
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MESH:C567518
MIM:611809