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ONTOLOGY REPORT - ANNOTATIONS


Term:optic atrophy 10
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Accession:DOID:0111434 term browser browse the term
Definition:An optic atrophy characterized by early-onset optic neuropathy and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in RTN4IP1 on chromosome 6q21. (DO)
Synonyms:exact_synonym: OPA10;   optic atrophy 10 with or without ataxia, mental retardation, and seizures
 primary_id: OMIM:616732
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optic atrophy 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rtn4ip1 reticulon 4 interacting protein 1 JBrowse link 20 48,881,124 48,924,921 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      Neurodevelopmental Disorders 4095
        intellectual disability 1721
          optic atrophy 10 1
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 10 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.