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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:X-linked spinocerebellar ataxia 4
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Accession:DOID:0111832 term browser browse the term
Definition:An X-linked cerebellar ataxia characterized by ataxia, pyramidal tract signs and adult-onset dementia with X-linked inheritance. (DO)
Synonyms:exact_synonym: SCAX4;   X-linked ataxia-dementia syndrome;   X-linked spinocerebellar ataxia type 4
 primary_id: MESH:C537316
 alt_id: OMIM:301840
 xref: GARD:9980;   ORDO:85292
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11834
    disease of anatomical entity 11389
      nervous system disease 9331
        neurodegenerative disease 2809
          primary cerebellar degeneration 293
            Spinocerebellar Ataxias 270
              X-linked spinocerebellar ataxia 4 0
Path 2
Term Annotations click to browse term
  disease 11834
    disease of anatomical entity 11389
      nervous system disease 9331
        central nervous system disease 7910
          brain disease 7316
            movement disease 1025
              Dyskinesias 785
                Ataxia 353
                  hereditary ataxia 267
                    X-linked hereditary ataxia 9
                      X-linked cerebellar ataxia 7
                        X-linked spinocerebellar ataxia 4 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.