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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: MIM:608984


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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 ClinVar Annotator: match by term: Autosomal dominant sensory ataxia 1 OMIM
ClinVar		 PMID:17190954 PMID:18414213 PMID:21115467 PMID:25741868 PMID:25882839 More... NCBI chr16:65,928,886...65,954,092
Ensembl chr16:65,928,895...65,954,083 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14333
        neurodegenerative disease 5005
          hereditary ataxia 629
            autosomal dominant sensory ataxia 1 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14333
        central nervous system disease 12605
          brain disease 11834
            movement disease 2626
              Dyskinesias 2228
                Ataxia 952
                  hereditary ataxia 629
                    autosomal dominant sensory ataxia 1 1
paths to the root