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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:Neurodegeneration with Ataxia and Late-Onset Optic Atrophy
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Accession:DOID:9007959 term browser browse the term
Synonyms:exact_synonym: NDAXOA
 primary_id: MIM:619259


show annotations for term's descendants           Sort by:
Neurodegeneration with Ataxia and Late-Onset Optic Atrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Neurodegeneration with ataxia and late-onset optic atrophy OMIM
ClinVar		 PMID:1492653 PMID:7550341 PMID:8967754 PMID:10746566 PMID:10976639 More... NCBI chr 1:30,764,553...30,789,523
Ensembl chr 1:28,940,164...28,961,535 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      nervous system disease 14354
        neurodegenerative disease 5069
          Neurodegeneration with Ataxia and Late-Onset Optic Atrophy 1
Path 2
Term Annotations click to browse term
  disease 19134
    Pathological Conditions, Signs and Symptoms 13617
      Signs and Symptoms 11204
        Neurologic Manifestations 10440
          sensory system disease 7375
            eye disease 3725
              optic nerve disease 500
                optic atrophy 322
                  Neurodegeneration with Ataxia and Late-Onset Optic Atrophy 1
paths to the root