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:spinocerebellar ataxia type 6
go back to main search page
Accession:DOID:0050956 term browser browse the term
Definition:An autosomal dominant cerebellar ataxia that is characterized by progresive ataxia, has_material_basis_in mutation in the CACNA1A gene. (DO)
Synonyms:exact_synonym: SCA6;   spinocerebellar ataxia 6
 primary_id: RDO:9003727
 alt_id: OMIM:183086
 xref: GARD:10351;   NCI:C142838
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      nervous system disease 12209
        neurodegenerative disease 3536
          hereditary ataxia 368
            cerebellar ataxia 277
              autosomal dominant cerebellar ataxia 72
                spinocerebellar ataxia type 6 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
                  Spinocerebellar Ataxias 349
                    cerebellar ataxia 277
                      autosomal dominant cerebellar ataxia 72
                        spinocerebellar ataxia type 6 1
paths to the root