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DO Term : bestrophinopathy [DOID:0050662] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • OMIM:611809,
  • autosomal recessive bestrophinopathy,
  • 611809,
  • MESH:C567518
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