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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 3
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Accession:DOID:9008127 term browser browse the term
Definition:A dystonia characterized by dystonia, chorea, athetosis, and other hyperkinetic movements that has_material_basis_in heterozygous mutation in the TMEM151A gene on chromosome 11q13. (DO)
Synonyms:exact_synonym: DYT36;   EKD3;   dystonia 36
 alt_id: DOID:0060944;   DOID:9002567
 xref: MONDO:0859380;   OMIM:620245


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Episodic Kinesigenic Dyskinesia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem151a transmembrane protein 151A ISO ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia 3 OMIM
ClinVar		 PMID:34518509 PMID:34820915 PMID:34970790 PMID:35587630 PMID:35727387 More... NCBI chr 1:202,387,397...202,392,182
Ensembl chr 1:202,388,240...202,392,182 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        Neurologic Manifestations 10102
          Dyskinesias 2197
            dystonia 435
              Episodic Kinesigenic Dyskinesia 26
                Episodic Kinesigenic Dyskinesia 3 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        central nervous system disease 12429
          brain disease 11666
            movement disease 2584
              Dyskinesias 2197
                dystonia 435
                  Episodic Kinesigenic Dyskinesia 26
                    Episodic Kinesigenic Dyskinesia 3 1
paths to the root