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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:episodic kinesigenic dyskinesia 2
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Accession:DOID:0090054 term browser browse the term
Definition:A dystonia that is characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 16q13-q22.1. (DO)
Synonyms:exact_synonym: DYT19;   EKD2;   dystonia 19
 primary_id: MESH:C567026
 alt_id: MIM:611031


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14334
        Neurologic Manifestations 10420
          Dyskinesias 2228
            dystonia 503
              Episodic Kinesigenic Dyskinesia 26
                episodic kinesigenic dyskinesia 2 0
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14334
        central nervous system disease 12604
          brain disease 11833
            movement disease 2626
              Dyskinesias 2228
                dystonia 503
                  Episodic Kinesigenic Dyskinesia 26
                    episodic kinesigenic dyskinesia 2 0
paths to the root