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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        neurodegenerative disease 2691
          hereditary ataxia 186
            autosomal dominant sensory ataxia 1 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          brain disease 7561
            movement disease 1000
              Dyskinesias 710
                Ataxia 300
                  hereditary ataxia 186
                    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.