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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
 xref: ORDO:98807

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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    Pathological Conditions, Signs and Symptoms 11054
      Anatomical Pathological Conditions 2309
        Torsion Abnormality 71
          torsion dystonia 13 0
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        central nervous system disease 10855
          brain disease 10186
            movement disease 2340
              Dyskinesias 2003
                dystonia 407
                  generalized dystonia 24
                    Dystonia Musculorum Deformans 20
                      torsion dystonia 13 0
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