ONTOLOGY REPORT - ANNOTATIONS


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
 alt_id: DOID:9008002;   RDO:0009266
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autosomal dominant sensory ataxia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnf170 ring finger protein 170 JBrowse link 16 70,684,886 70,710,147 RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        neurodegenerative disease 2091
          hereditary ataxia 142
            autosomal dominant sensory ataxia 1 1
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        central nervous system disease 6908
          brain disease 6412
            movement disease 991
              Dyskinesias 711
                Ataxia 304
                  hereditary ataxia 142
                    autosomal dominant sensory ataxia 1 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.