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ONTOLOGY REPORT - ANNOTATIONS


Term:retinitis pigmentosa 20
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Accession:DOID:0110353 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the RPE65 gene on chromosome 1p31. (DO)
Synonyms:exact_synonym: RP20
 broad_synonym: RPE65-RELATED DISORDER
 primary_id: MESH:C566718
 alt_id: OMIM:613794;   RDO:0014993
For additional species annotation, visit the Alliance of Genome Resources.


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retinitis pigmentosa 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rpe65 retinoid isomerohydrolase RPE65 JBrowse link 2 266,141,581 266,169,197 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    sensory system disease 4674
      eye and adnexa disease 2242
        eye disease 2242
          Hereditary Eye Diseases 507
            retinitis pigmentosa 242
              retinitis pigmentosa 20 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        sensory system disease 4674
          eye and adnexa disease 2242
            eye disease 2242
              retinal disease 715
                retinal degeneration 407
                  fundus dystrophy 264
                    retinitis pigmentosa 242
                      retinitis pigmentosa 20 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.