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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 26
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Accession:DOID:0090036 term browser browse the term
Definition:An autosomal dominant neurologic disorder characterized by onset of myoclonic jerks affecting the upper limbs in the first or second decade of life. (OMIM)
Synonyms:exact_synonym: DYT26
 primary_id: OMIM:616398
 alt_id: RDO:9001436
For additional species annotation, visit the Alliance of Genome Resources.


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myoclonic dystonia 26 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kctd17 potassium channel tetramerization domain containing 17 ISO ClinVar Annotator: match by term: Dystonia 26, myoclonic ClinVar
OMIM
PMID:25741868 PMID:25983243 PMID:28492532 NCBI chr 7:119,647,301...119,658,148
Ensembl chr 7:119,647,375...119,658,148
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        Neurologic Manifestations 4136
          Dyskinesias 797
            dystonia 132
              myoclonic dystonia 5
                myoclonic dystonia 26 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          brain disease 8372
            movement disease 1094
              Dyskinesias 797
                dystonia 132
                  myoclonic dystonia 5
                    myoclonic dystonia 26 1
paths to the root