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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


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6962
      eye disease 3491
        Eye Abnormalities 781
          torsion dystonia with onset in infancy 0
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        central nervous system disease 12430
          brain disease 11668
            movement disease 2583
              Dyskinesias 2196
                dystonia 435
                  generalized dystonia 25
                    torsion dystonia with onset in infancy 0
paths to the root