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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:Generalized Epilepsy and Paroxysmal Dyskinesia
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Accession:DOID:9002672 term browser browse the term
Synonyms:exact_synonym: Epilepsy, Generalized, with Paroxysmal Dyskinesia;   GEPD;   PAROXYSMAL NONKINESIGENIC DYSKINESIA, 3, WITH OR WITHOUT GENERALIZED EPILEPSY;   PNKD3
 primary_id: MESH:C563719;   RDO:0012906
 alt_id: OMIM:609446
For additional species annotation, visit the Alliance of Genome Resources.


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Generalized Epilepsy and Paroxysmal Dyskinesia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO ClinVar Annotator: match by OMIM:609446
ClinVar Annotator: match by term: Generalized epilepsy and paroxysmal dyskinesia
ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy
OMIM
ClinVar
PMID:15937479, PMID:16946189, PMID:18414213, PMID:20430843, PMID:25326635, PMID:25326637, PMID:25741868, PMID:26195193, PMID:26467025, PMID:28492532, PMID:29330545, PMID:29933521 NCBI chr15:344,204...1,048,849
Ensembl chr15:344,360...1,047,956
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          movement disease 1156
            choreatic disease 175
              Generalized Epilepsy and Paroxysmal Dyskinesia 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          brain disease 8330
            movement disease 1156
              Dyskinesias 867
                choreatic disease 175
                  Generalized Epilepsy and Paroxysmal Dyskinesia 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.