ONTOLOGY REPORT - ANNOTATIONS


Term:Leber hereditary optic neuropathy
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Accession:DOID:705 term browser browse the term
Definition:A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision loss leading to central scotoma and blindness. The disease has been associated with missense mutations in the mtDNA, in genes for Complex I, III, and IV polypeptides, that can act autonomously or in association with each other to cause the disease. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim/, MIM#535000 (April 17, 2001))
Synonyms:exact_synonym: Hereditary Optic Neuroretinopathies;   Hereditary Optic Neuroretinopathy;   LEBER HEREDITARY OPTIC NEUROPATHY, MODIFIER OF;   LEBER OPTIC ATROPHY, SUSCEPTIBILITY TO;   LEBER PLUS DISEASE;   LHON;   LHON, MODIFIER OF;   LOAS;   Leber Disease;   Leber Optic Atrophy;   Leber Optic Atrophy and Dystonia;   Leber Optic Neuropathy;   Leber's Disease;   Leber's Diseases;   Leber's Hereditary Optic Atrophy;   Leber's Hereditary Optic Neuropathy;   Leber's Optic Atrophy;   Leber's Optic Neuropathy;   Lebers Disease;   Lebers Optic Neuropathy;   Optic Atrophy, Hereditary, Leber;   Optic Atrophy, Leber Type
 primary_id: MESH:D029242;   RDO:0001436
 alt_id: OMIM:308905;   OMIM:535000
 xref: GARD:6870
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Leber hereditary optic neuropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apoa4 apolipoprotein A4 JBrowse link 8 50,536,983 50,539,371 RGD:5685659
G Ephx1 epoxide hydrolase 1 JBrowse link 13 99,271,390 99,300,580 RGD:5688732
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:11554173
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11554173
G Lrat lecithin retinol acyltransferase JBrowse link 2 181,896,304 181,905,366 RGD:11554173
G Mt-atp6 mitochondrially encoded ATP synthase 6 JBrowse link MT 7,919 8,599 RGD:5490293
RGD:11554173
RGD:8554872
RGD:5508187
G Mt-co1 mitochondrially encoded cytochrome c oxidase I JBrowse link MT 5,323 6,867 RGD:8554872
G Mt-co3 mitochondrially encoded cytochrome c oxidase III JBrowse link MT 8,599 9,382 RGD:8554872
RGD:11554173
G Mt-cyb mitochondrially encoded cytochrome b JBrowse link MT 14,136 15,278 RGD:8554872
RGD:11554173
G Mt-nd1 mitochondrially encoded NADH dehydrogenase 1 JBrowse link MT 2,740 3,694 RGD:5508685
RGD:8554872
RGD:11554173
RGD:8657118
RGD:8657116
RGD:5508712
RGD:5508689
RGD:5508187
G Mt-nd2 mitochondrially encoded NADH dehydrogenase 2 JBrowse link MT 3,904 4,942 RGD:5508187
RGD:11554173
RGD:8554872
G Mt-nd3 mitochondrially encoded NADH dehydrogenase 3 JBrowse link MT 9,451 9,798 RGD:5508703
RGD:8554872
G Mt-nd4 mitochondrially encoded NADH dehydrogenase 4 JBrowse link MT 10,160 11,537 RGD:1581057
RGD:8554872
RGD:11554173
RGD:5508187
RGD:5507829
RGD:5491183
RGD:1581058
RGD:1581059
G Mt-nd4l mitochondrially encoded NADH 4L dehydrogenase JBrowse link MT 9,870 10,166 RGD:5686339
RGD:11554173
RGD:8554872
RGD:5686341
G Mt-nd5 mitochondrially encoded NADH dehydrogenase 5 JBrowse link MT 11,736 13,565 RGD:1581060
RGD:11554173
RGD:8554872
RGD:5507826
RGD:5491202
RGD:5491183
RGD:5491172
G Mt-nd6 mitochondrially encoded NADH dehydrogenase 6 JBrowse link MT 13,543 14,061 RGD:8657119
RGD:11554173
RGD:8554872
RGD:8657127
RGD:8657125
RGD:8657123
G Ndufaf5 NADH:ubiquinone oxidoreductase complex assembly factor 5 JBrowse link 3 133,232,412 133,261,932 RGD:8554872
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 JBrowse link 13 89,606,848 89,623,506 RGD:8554872
G Parl presenilin associated, rhomboid-like JBrowse link 11 84,517,368 84,544,463 RGD:12902617
RGD:12902618
G Rdh12 retinol dehydrogenase 12 JBrowse link 6 102,392,828 102,405,750 RGD:1599415
G Rpe65 retinoid isomerohydrolase RPE65 JBrowse link 2 266,141,581 266,169,197 RGD:11554173
G Rpgrip1 RPGR interacting protein 1 JBrowse link 15 28,521,287 28,575,046 RGD:1599580
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:8158101
RGD:8158104
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:5688732
Marsden Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mt-nd1 mitochondrially encoded NADH dehydrogenase 1 JBrowse link MT 2,740 3,694 RGD:8554872
G Mt-nd3 mitochondrially encoded NADH dehydrogenase 3 JBrowse link MT 9,451 9,798 RGD:8554872
G Mt-nd4 mitochondrially encoded NADH dehydrogenase 4 JBrowse link MT 10,160 11,537 RGD:8554872
G Mt-nd6 mitochondrially encoded NADH dehydrogenase 6 JBrowse link MT 13,543 14,061 RGD:8554872

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Path 1
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  disease 14920
    Nutritional and Metabolic Diseases 4265
      disease of metabolism 4265
        mitochondrial metabolism disease 330
          Leber hereditary optic neuropathy 24
            Marsden Syndrome 4
Path 2
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      nervous system disease 9150
        peripheral nervous system disease 2017
          neuropathy 1838
            cranial nerve disease 360
              optic nerve disease 189
                optic atrophy 91
                  Hereditary Optic Atrophies 57
                    Leber hereditary optic neuropathy 24
                      Marsden Syndrome 4
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.