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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:torsion dystonia 13
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Accession:DOID:0090037 term browser browse the term
Definition:A dystonia that is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 1p36.32-p36.13. (DO)
Synonyms:exact_synonym: DYT13;   torsion dystonia 13, autosomal dominant
 primary_id: MESH:C564354
 alt_id: OMIM:607671;   RDO:0013349
 xref: ORDO:98807
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 17251
    Pathological Conditions, Signs and Symptoms 10261
      Anatomical Pathological Conditions 2003
        Torsion Abnormality 76
          torsion dystonia 13 0
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      nervous system disease 12130
        central nervous system disease 10402
          brain disease 9763
            movement disease 1401
              Dyskinesias 1068
                dystonia 190
                  generalized dystonia 6
                    Dystonia Musculorum Deformans 4
                      torsion dystonia 13 0
paths to the root