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ONTOLOGY REPORT - ANNOTATIONS


Term:optic atrophy 1
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Accession:DOID:0111441 term browser browse the term
Definition:Dominant optic atrophy is a hereditary optic neuropathy causing decreased visual acuity, color vision deficits, a centrocecal scotoma, and optic nerve pallor (Hum. Genet. 1998; 102: 79-86). Mutations leading to this condition have been mapped to the OPA1 gene at chromosome 3q28-q29. OPA1 codes for a dynamin-related GTPase that localizes to mitochondria.
Synonyms:exact_synonym: Autosomal Dominant Optic Atrophy Kjer Type;   DOMINANT HEREDITARY OPTIC ATROPHY;   Dominant Optic Atrophies;   Dominant Optic Atrophy;   Juvenile Optic Atrophies;   Juvenile Optic Atrophy;   Kjer Optic Atrophy;   Kjer Type Optic Atrophy;   Kjer's Optic Atrophy;   Kjer-Type Optic Atrophies;   Kjers Optic Atrophy;   OAK;   OPA1;   Optic Atrophy Type 1;   Optic Atrophy, Autosomal Dominant;   Optic Atrophy, Hereditary, Autosomal Dominant
 primary_id: MESH:D029241
 alt_id: DOID:9003387;   OMIM:165500;   RDO:0002896
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optic atrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Opa1 OPA1, mitochondrial dynamin like GTPase JBrowse link 11 74,717,600 74,793,902 RGD:7240710
RGD:8554872
RGD:7800686
RGD:7800699
RGD:7800704
RGD:7800706
RGD:7800708
RGD:7800709
RGD:7800715
RGD:7800716
RGD:11554173
G Opa3 OPA3, outer mitochondrial membrane lipid metabolism regulator JBrowse link 1 80,141,630 80,160,145 RGD:8554872
G Wfs1 wolframin ER transmembrane glycoprotein JBrowse link 14 78,640,707 78,665,224 RGD:7800683

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    Nutritional and Metabolic Diseases 4396
      disease of metabolism 4396
        mitochondrial metabolism disease 310
          optic atrophy 1 3
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 1 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.