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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:adult-onset ataxia and polyneuropathy
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Accession:DOID:0111750 term browser browse the term
Definition:A mitochondrial metabolism disease characterized by adult-onset of ataxia and polyneuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6. (DO)
Synonyms:primary_id: MESH:C564020
 alt_id: OMIM:500010
For additional species annotation, visit the Alliance of Genome Resources.


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adult-onset ataxia and polyneuropathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Ataxia and polyneuropathy, adult-onset ClinVar PMID:3612192, PMID:8190310, PMID:8395787, PMID:8602753, PMID:8644724, PMID:8750605, PMID:9568930, PMID:9762610, PMID:11916326, PMID:16049925, PMID:18055910 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        mitochondrial metabolism disease 333
          adult-onset ataxia and polyneuropathy 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          brain disease 8330
            movement disease 1156
              Dyskinesias 867
                Ataxia 393
                  adult-onset ataxia and polyneuropathy 1
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.