ONTOLOGY REPORT - ANNOTATIONS


Term:bestrophinopathy
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Accession:DOID:0050662 term browser browse the term
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. (DO)
Synonyms:exact_synonym: ARB;   Bestrophinopathy, Autosomal Recessive
 narrow_synonym: Multifocal retinopathy 1;   Multifocal retinopathy 2;   Multifocal retinopathy 3
 primary_id: MESH:C567518;   OMIM:611809;   RDO:0009564
 alt_id: OMIA:001444;   OMIA:001553;   OMIA:001554;   RDO:0015578
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bestrophinopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Best1 bestrophin 1 JBrowse link 1 226,033,146 226,049,893 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
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  disease 14823
    Diseases of the Aged 1152
      macular degeneration 138
        bestrophinopathy 1
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        sensory system disease 4244
          eye and adnexa disease 1985
            eye disease 1985
              retinal disease 719
                retinal degeneration 410
                  macular degeneration 138
                    bestrophinopathy 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.