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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:Myokymia
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Accession:DOID:9003935 term browser browse the term
Definition:Successive and rapid contractions of motor units associated with chronic nerve injury. The discharges arise from the peripheral aspects of regenerating nerves, and clinically impart a nearly continuous undulation of the body surface overlying the muscle. (Adams et al., Principles of Neurology, 6th ed, p1491)
Synonyms:exact_synonym: Fibrillary Chorea;   Fibrillary Choreas;   Generalized Myokymia;   Generalized Myokymias;   Kymatism;   Kymatisms;   Morvan Chorea;   Morvan Choreas;   Morvan Fibrillary Chorea;   Morvan's Chorea;   Morvan's Choreas;   Morvan's Fibrillary Chorea;   Morvans Chorea;   Morvans Fibrillary Chorea;   Myokymias
 primary_id: MESH:D020385


show annotations for term's descendants           Sort by:
Myokymia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcna1 potassium voltage-gated channel subfamily A member 1 IAGP
ISO 		ClinVar Annotator: match by term: Myokymia ClinVar
RGD		 PMID:25741868 PMID:26467025 PMID:28492532 PMID:22206926 RGD:10047237 NCBI chr 4:161,150,378...161,160,051
Ensembl chr 4:159,464,188...159,472,682 		JBrowse link
G Kcna1Adms potassium voltage-gated channel subfamily A member 1;autosomal dominant myokymia and seizures IAGP RGD PMID:22206926 RGD:10047237
Benign Familial Neonatal Seizures, 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1 ClinVar NCBI chr 1:89,700,645...89,729,782
Ensembl chr 1:80,572,796...80,601,918 		JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: KCNQ2-related condition | ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1 | ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1, and/or myokymia OMIM
ClinVar		 PMID:2753503 PMID:2847176 PMID:3360469 PMID:4055306 PMID:7980108 More... NCBI chr 3:188,572,345...188,631,391
Ensembl chr 3:168,195,357...168,275,071 		JBrowse link
Dyskinesia with Orofacial Involvement term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy5 adenylate cyclase 5 ISO ClinVar Annotator: match by term: Dyskinesia, familial, with facial myokymia
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD		 PMID:24700542 PMID:25741868 PMID:26085604 PMID:26537056 PMID:28492532 More... NCBI chr11:65,471,612...65,618,877
Ensembl chr11:65,471,612...65,618,974 		JBrowse link
Dyskinesia with Orofacial Involvement, Autosomal Dominant term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy5 adenylate cyclase 5 ISO ClinVar Annotator: match by term: Dyskinesia with orofacial involvement, autosomal dominant OMIM
ClinVar		 PMID:152174 PMID:1003446 PMID:11310626 PMID:11445636 PMID:16199547 More... NCBI chr11:65,471,612...65,618,877
Ensembl chr11:65,471,612...65,618,974 		JBrowse link
Dyskinesia with Orofacial Involvement, Autosomal Recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy5 adenylate cyclase 5 ISO ClinVar Annotator: match by term: Dyskinesia with orofacial involvement, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28971144 PMID:30975617 NCBI chr11:65,471,612...65,618,877
Ensembl chr11:65,471,612...65,618,974 		JBrowse link
episodic ataxia type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap3 A-kinase anchoring protein 3 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 4:161,374,198...161,400,062
Ensembl chr 4:159,699,289...159,713,903 		JBrowse link
G Ano2 anoctamin 2 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 4:158,514,200...158,855,639
Ensembl chr 4:158,496,014...158,855,651 		JBrowse link
G Ccnd2 cyclin D2 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 4:161,653,048...161,675,422
Ensembl chr 4:159,962,363...159,989,495 		JBrowse link
G Dyrk4 dual specificity tyrosine phosphorylation regulated kinase 4 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 4:159,715,658...159,757,660
Ensembl chr 4:159,715,417...159,757,627 		JBrowse link
G Ferry3 FERRY endosomal RAB5 effector complex subunit 3 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 4:159,772,693...159,809,322
Ensembl chr 4:159,772,786...159,806,382 		JBrowse link
G Fgf23 fibroblast growth factor 23 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 4:161,600,439...161,609,991
Ensembl chr 4:159,914,272...159,923,821 		JBrowse link
G Fgf6 fibroblast growth factor 6 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 4:161,541,089...161,549,624
Ensembl chr 4:159,854,913...159,863,447 		JBrowse link
G Galnt8 polypeptide N-acetylgalactosaminyltransferase 8 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 4:159,626,438...159,650,327 JBrowse link
G Kcna1 potassium voltage-gated channel subfamily A member 1 ISO
ISS
IAGP 		ClinVar Annotator: match by term: Episodic ataxia type 1 | ClinVar Annotator: match by term: Myokymia 1 with hypomagnesemia | ClinVar Annotator: match by term: PAROXYSMAL ATAXIA WITH NEUROMYOTONIA, HEREDITARY
OMIM:160120
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:2245301 PMID:7842011 PMID:8541859 PMID:8845167 PMID:9526001 More... RGD:10047237 NCBI chr 4:161,150,378...161,160,051
Ensembl chr 4:159,464,188...159,472,682 		JBrowse link
G Kcna1Adms potassium voltage-gated channel subfamily A member 1;autosomal dominant myokymia and seizures IAGP RGD PMID:22206926 RGD:10047237
G Kcna5 potassium voltage-gated channel subfamily A member 5 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:21858020 PMID:28492532 NCBI chr 4:161,040,853...161,044,311
Ensembl chr 4:159,350,097...159,357,697 		JBrowse link
G Kcna6 potassium voltage-gated channel subfamily A member 6 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 4:161,229,103...161,262,352
Ensembl chr 4:159,542,615...159,576,189 		JBrowse link
G Ndufa9 NADH:ubiquinone oxidoreductase subunit A9 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 4:159,659,242...159,688,034
Ensembl chr 4:159,659,242...159,688,018 		JBrowse link
G Ntf3 neurotrophin 3 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 4:160,601,161...160,670,623
Ensembl chr 4:158,914,957...158,984,596 		JBrowse link
G Rad51ap1 RAD51 associated protein 1 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 4:161,445,610...161,458,661
Ensembl chr 4:159,759,459...159,772,524 		JBrowse link
G Tigar TP53 induced glycolysis regulatory phosphatase ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 4:161,613,306...161,632,248
Ensembl chr 4:159,927,139...159,946,029
Ensembl chr 6:159,927,139...159,946,029 		JBrowse link
G Vwf von Willebrand factor ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 4:160,042,900...160,177,757
Ensembl chr 4:158,360,152...158,491,539 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19145
    Pathological Conditions, Signs and Symptoms 13623
      Signs and Symptoms 11219
        Neurologic Manifestations 10461
          Neuromuscular Manifestations 816
            Myokymia 21
              Benign Familial Neonatal Seizures, 1 2
              Continuous Muscle Fiber Activity, Hereditary 0
              Dyskinesia with Orofacial Involvement + 1
              Myokymia with Neonatal Epilepsy 0
              episodic ataxia type 1 18
paths to the root