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ONTOLOGY REPORT - ANNOTATIONS


Term:optic atrophy 8
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Accession:DOID:0111439 term browser browse the term
Definition:An optic atrophy characterized by progressive visual loss during the first or second decade of life that has_material_basis_in heterozygous mutation in a region on chromosome 16q21-q22. (DO)
Synonyms:exact_synonym: OPA8
 primary_id: OMIM:616648
 alt_id: DOID:9006954;   RDO:9000435
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optic atrophy 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aco2 aconitase 2 JBrowse link 7 123,102,493 123,145,608 RGD:8554872
G Polr3h RNA polymerase III subunit H JBrowse link 7 123,146,248 123,156,558 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      nervous system disease 10167
        neurodegenerative disease 2941
          Nervous System Heredodegenerative Disorders 1728
            Hereditary Optic Atrophies 58
              optic atrophy 8 2
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      nervous system disease 10167
        peripheral nervous system disease 2164
          neuropathy 1988
            cranial nerve disease 366
              optic nerve disease 193
                optic atrophy 94
                  Hereditary Optic Atrophies 58
                    optic atrophy 8 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.