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X-linked spinocerebellar ataxia 5 - Ontology Report - Rat Genome Database

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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 5
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Accession:DOID:0111833 term browser browse the term
Definition:An X-linked cerebellar ataxia characterized by neonatal hypotonia, delayed motor development, nonprogressive ataxia, nystagmus, and dysarthria that has_material_basis_in hemizygous mutation in region of chromosome Xq25-q27.1. (DO)
Synonyms:exact_synonym: SCAX5;   X-linked non progressive cerebellar ataxia
 xref: MESH:C567478;   MIM:300703;   MONDO:0010404;   ORDO:314978

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Path 1
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      nervous system disease 190640
        neurodegenerative disease 56131
          primary cerebellar degeneration 6040
            Spinocerebellar Ataxias 5706
              X-linked spinocerebellar ataxia 5 0
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      nervous system disease 190640
        central nervous system disease 157774
          brain disease 148547
            movement disease 27194
              Dyskinesias 22111
                Ataxia 9551
                  hereditary ataxia 6438
                    X-linked hereditary ataxia 93
                      X-linked cerebellar ataxia 72
                        X-linked spinocerebellar ataxia 5 0
paths to the root