Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:Sensory Ataxia, Autosomal Dominant
go back to main search page
Accession:DOID:9004720 term browser browse the term
Synonyms:primary_id: MESH:C563818
 alt_id: RDO:0012981
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Sensory Ataxia, Autosomal Dominant 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: Ataxia, sensory, autosomal dominant 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 17435
    Pathological Conditions, Signs and Symptoms 10360
      Signs and Symptoms 6553
        Neurologic Manifestations 5497
          Dyskinesias 1078
            Ataxia 510
              Sensory Ataxia, Autosomal Dominant 1
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      nervous system disease 12209
        central nervous system disease 10477
          brain disease 9840
            movement disease 1416
              Dyskinesias 1078
                Ataxia 510
                  Sensory Ataxia, Autosomal Dominant 1
paths to the root