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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
 primary_id: OMIM:617717
For additional species annotation, visit the Alliance of Genome Resources.



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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 OMIM
ClinVar
PMID:6766943 PMID:24033266 PMID:25741868 PMID:28965846 PMID:29040572 NCBI chr10:100,507,863...100,516,649
Ensembl chr10:100,507,865...100,516,658
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    sensory system disease 6410
      eye disease 2936
        Hereditary Eye Diseases 758
          Hereditary Optic Atrophies 73
            Auditory Neuropathy and Optic Atrophy 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        central nervous system disease 11323
          brain disease 10618
            disease of mental health 7532
              developmental disorder of mental health 4892
                specific developmental disorder 4152
                  communication disorder 297
                    agnosia 49
                      cortical deafness 15
                        Auditory Neuropathy 11
                          Auditory Neuropathy and Optic Atrophy 1
paths to the root