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ONTOLOGY REPORT - ANNOTATIONS


Term:optic atrophy 5
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Accession:DOID:0111438 term browser browse the term
Definition:An optic atrophy characterized by degeneration of retinal ganglion cells resulting in slowly progressive visual loss with variable onset from the first to third decades that has_material_basis_in heterozygous of mutation in DNM1L on chromosome 12p11.21. (DO)
Synonyms:exact_synonym: OPA5
 primary_id: MESH:C537126
 alt_id: DOID:9000810;   OMIM:610708;   RDO:0002899
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optic atrophy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnm1l dynamin 1-like JBrowse link 11 88,830,968 88,882,271 RGD:8554872
RGD:7240710
G Yars2 tyrosyl-tRNA synthetase 2 JBrowse link 11 88,882,615 88,888,377 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    disease of anatomical entity 14933
      nervous system disease 10260
        neurodegenerative disease 2706
          Nervous System Heredodegenerative Disorders 1728
            Hereditary Optic Atrophies 58
              optic atrophy 5 2
Path 2
Term Annotations click to browse term
  disease 15602
    disease of anatomical entity 14933
      nervous system disease 10260
        peripheral nervous system disease 2163
          neuropathy 1987
            cranial nerve disease 366
              optic nerve disease 193
                optic atrophy 94
                  Hereditary Optic Atrophies 58
                    optic atrophy 5 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.