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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 12770
    disease of anatomical entity 12302
      nervous system disease 10063
        neurodegenerative disease 2994
          primary cerebellar degeneration 301
            Spinocerebellar Ataxias 278
              X-linked spinocerebellar ataxia 4 0
Path 2
Term Annotations click to browse term
  disease 12770
    disease of anatomical entity 12302
      nervous system disease 10063
        central nervous system disease 8519
          brain disease 7896
            movement disease 1066
              Dyskinesias 805
                Ataxia 363
                  hereditary ataxia 273
                    X-linked hereditary ataxia 10
                      X-linked cerebellar ataxia 8
                        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.