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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:autosomal dominant sensory ataxia 1
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Accession:DOID:0111170 term browser browse the term
Definition:A hereditary ataxia characterized by gait difficulty and instability especially in dark conditions resulting from sensory loss in the extremities and without cerebellar involvement that has_material_basis_in heterozygous mutations in the RNF170 gene on chromosome 8. (DO)
Synonyms:exact_synonym: ADSA;   SNAX1
 primary_id: OMIM:608984
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal dominant sensory ataxia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf170 ring finger protein 170 ISO OMIM NCBI chr16:70,684,886...70,710,147
Ensembl chr16:70,687,487...70,705,128
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        neurodegenerative disease 3216
          hereditary ataxia 221
            autosomal dominant sensory ataxia 1 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          brain disease 8372
            movement disease 1094
              Dyskinesias 797
                Ataxia 338
                  hereditary ataxia 221
                    autosomal dominant sensory ataxia 1 1
paths to the root