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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Auditory Neuropathy and Optic Atrophy
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Accession:DOID:9003451 term browser browse the term
Definition:An autosomal recessive neurologic disorder characterized by onset of visual and hearing impairment in the first or second decades. (OMIM)
Synonyms:exact_synonym: ANOA;   FDXR-RELATED CONDITION
 primary_id: MIM:617717


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Auditory Neuropathy and Optic Atrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fdxr ferredoxin reductase ISO ClinVar Annotator: match by term: AUDITORY NEUROPATHY AND OPTIC ATROPHY | ClinVar Annotator: match by term: FDXR-related condition OMIM
ClinVar		 PMID:6766943 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28965846 More... NCBI chr10:100,507,863...100,516,649
Ensembl chr10:100,507,865...100,516,658 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18973
    sensory system disease 7036
      eye disease 3498
        Hereditary Eye Diseases 1104
          Hereditary Optic Atrophies 83
            Auditory Neuropathy and Optic Atrophy 1
Path 2
Term Annotations click to browse term
  disease 18973
    Pathological Conditions, Signs and Symptoms 13385
      Signs and Symptoms 10876
        Neurologic Manifestations 10114
          sensory system disease 7036
            Otorhinolaryngologic Diseases 1741
              auditory system disease 995
                Hearing Disorders 821
                  Hearing Loss 816
                    sensorineural hearing loss 627
                      cortical deafness 39
                        Auditory Neuropathy 36
                          Auditory Neuropathy and Optic Atrophy 1
paths to the root