ONTOLOGY REPORT - ANNOTATIONS


Term:Bothnia retinal dystrophy
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Accession:DOID:0050683 term browser browse the term
Definition:A fundus dystrophy that is characterized by early onset of night blindness and decreased visual acuity that progresses to blindness in early adulthood, has_material_basis_in mutation in RLBP1 gene. (DO)
Synonyms:exact_synonym: Vasterbotten Dystrophy
 primary_id: MESH:C564392;   RDO:0013373
 alt_id: OMIM:607475
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Bothnia retinal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rlbp1 retinaldehyde binding protein 1 JBrowse link 1 141,097,789 141,111,375 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    sensory system disease 4246
      eye and adnexa disease 1985
        eye disease 1985
          Hereditary Eye Diseases 503
            Bothnia retinal dystrophy 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          eye and adnexa disease 1985
            eye disease 1985
              retinal disease 719
                retinal degeneration 410
                  fundus dystrophy 264
                    Bothnia retinal dystrophy 1
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