Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP 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:Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy 3
go back to main search page
Accession:DOID:9008083 term browser browse the term
Synonyms:exact_synonym: SCAN3
 primary_id: OMIM:618387
For additional species annotation, visit the Alliance of Genome Resources.


GViewer not supported for chinchilla.
show annotations for term's descendants           Sort by:
 
Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC102016246 cytochrome c oxidase assembly factor 7 ISO OMIM NCBI chrNW_004955464:6,472,158...6,490,618
Ensembl chrNW_004955464:6,472,053...6,497,526
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11876
    disease of anatomical entity 11432
      nervous system disease 9351
        peripheral nervous system disease 2219
          neuropathy 2068
            axonal neuropathy 25
              Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy 4
                Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy 3 1
Path 2
Term Annotations click to browse term
  disease 11876
    disease of anatomical entity 11432
      nervous system disease 9351
        central nervous system disease 7910
          brain disease 7304
            movement disease 957
              Dyskinesias 709
                Ataxia 299
                  Spinocerebellar Ataxias 208
                    cerebellar ataxia 174
                      autosomal recessive cerebellar ataxia 62
                        Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy 4
                          Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy 3 1
paths to the root