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:autosomal recessive spinocerebellar ataxia 25
go back to main search page
Accession:DOID:0080259 term browser browse the term
Definition:An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the ATG5 gene on chromosome 6q21. (DO)
Synonyms:exact_synonym: SCAR25
 primary_id: OMIM:617584
 alt_id: DOID:9008646
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
autosomal recessive spinocerebellar ataxia 25 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atg5 autophagy related 5 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 25 ClinVar
OMIM
PMID:15981765 PMID:26812546 NCBI chr20:47,798,222...47,889,216
Ensembl chr20:47,798,290...47,889,209
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    disease of anatomical entity 17576
      nervous system disease 13207
        neurodegenerative disease 3928
          hereditary ataxia 407
            cerebellar ataxia 282
              autosomal recessive cerebellar ataxia 159
                autosomal recessive spinocerebellar ataxia 25 1
Path 2
Term Annotations click to browse term
  disease 18215
    disease of anatomical entity 17576
      nervous system disease 13207
        central nervous system disease 11364
          brain disease 10660
            movement disease 1744
              Dyskinesias 1401
                Ataxia 549
                  Spinocerebellar Ataxias 357
                    cerebellar ataxia 282
                      autosomal recessive cerebellar ataxia 159
                        autosomal recessive spinocerebellar ataxia 25 1
paths to the root