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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:myoclonic dystonia 34
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Accession:DOID:0060957 term browser browse the term
Definition:A dystonia characterized by childhood-onset dystonia primarily involving the hands and neck, with a fast tremor with superimposed myoclonus that has_material_basis_in heterozygous mutation in the KCNN2 gene on chromosome 5q22. (DO)
Synonyms:exact_synonym: DYT34
 broad_synonym: KCNN2-RELATED CONDITION
 primary_id: OMIM:619724
 alt_id: DOID:9004834


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myoclonic dystonia 34 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnn2 potassium calcium-activated channel subfamily N member 2 ISO ClinVar Annotator: match by term: Dystonia 34, myoclonic OMIM
ClinVar		 PMID:25741868 PMID:32212350 NCBI chr18:37,817,966...38,258,347
Ensembl chr18:37,817,957...38,258,347 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        Neurologic Manifestations 10055
          Dyskinesias 2197
            dystonia 435
              myoclonic dystonia 56
                myoclonic dystonia 34 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            movement disease 2584
              Dyskinesias 2197
                dystonia 435
                  myoclonic dystonia 56
                    myoclonic dystonia 34 1
paths to the root