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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 with onset in infancy
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Accession:DOID:0090058 term browser browse the term
Definition:A generalized dystonia that is characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy. (DO)
Synonyms:exact_synonym: autosomal dominant torsion dystonia with onset in infancy
 primary_id: MESH:C536969
 alt_id: OMIM:602554;   RDO:0002704
 xref: ORDO:256
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 17289
    sensory system disease 5680
      eye disease 2766
        Eye Abnormalities 401
          torsion dystonia with onset in infancy 0
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            movement disease 1404
              Dyskinesias 1073
                dystonia 190
                  generalized dystonia 6
                    torsion dystonia with onset in infancy 0
paths to the root