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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 ISO ClinVar Annotator: match by term: Myokymia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:65,556,837...65,565,880
Ensembl chr 5:65,561,962...65,565,116
JBrowse link
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 6:49,905,851...49,927,437
Ensembl chr 6:49,905,847...49,927,633
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:2847176 PMID:3360469 PMID:4055306 PMID:7980108 PMID:9425895 More... NCBI chr17:62,459,277...62,506,403
Ensembl chr17:62,459,281...62,506,424
JBrowse link
Benign Neonatal Epilepsy 1, and/or Myokymia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Epilepsy, benign neonatal, 1, and/or myokymia ClinVar PMID:24375629 PMID:25741868 NCBI chr17:62,459,277...62,506,403
Ensembl chr17:62,459,281...62,506,424
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 ClinVar PMID:24700542 PMID:25741868 PMID:26085604 PMID:26537056 PMID:28492532 More... NCBI chr13:136,965,746...137,133,795
Ensembl chr13:136,972,801...137,135,347
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 chr13:136,965,746...137,133,795
Ensembl chr13:136,972,801...137,135,347
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 chr13:136,965,746...137,133,795
Ensembl chr13:136,972,801...137,135,347
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 5:65,788,744...65,816,031
Ensembl chr 5:65,797,376...65,819,765
JBrowse link
G CCND2 cyclin D2 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 5:66,092,483...66,114,575
Ensembl chr 5:66,087,379...66,114,571
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 5:65,815,063...65,877,804
Ensembl chr 5:65,812,243...65,870,092
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 5:65,896,750...65,944,183
Ensembl chr 5:65,897,537...65,944,179
JBrowse link
G FGF23 fibroblast growth factor 23 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 5:66,028,591...66,038,078
Ensembl chr 5:66,028,776...66,038,740
JBrowse link
G FGF6 fibroblast growth factor 6 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 5:65,975,807...65,990,035
Ensembl chr 5:65,975,838...65,990,029
JBrowse link
G GALNT8 polypeptide N-acetylgalactosaminyltransferase 8 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 5:65,697,120...65,735,521
Ensembl chr 5:65,696,868...65,735,536
JBrowse link
G KCNA1 potassium voltage-gated channel subfamily A member 1 ISO 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
ClinVar
PMID:2245301 PMID:7842011 PMID:8541859 PMID:8845167 PMID:9526001 More... NCBI chr 5:65,556,837...65,565,880
Ensembl chr 5:65,561,962...65,565,116
JBrowse link
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 5:65,439,336...65,442,207
Ensembl chr 5:65,439,336...65,442,207
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 5:65,625,581...65,659,557
Ensembl chr 5:65,657,225...65,658,835
JBrowse link
G NDUFA9 NADH:ubiquinone oxidoreductase subunit A9 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 5:65,760,078...65,788,703
Ensembl chr 5:65,759,727...65,788,646
JBrowse link
G NTF3 neurotrophin 3 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 5:65,052,608...65,122,645
Ensembl chr 5:65,052,519...65,123,788
JBrowse link
G RAD51AP1 RAD51 associated protein 1 ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 5:65,872,277...65,897,210
Ensembl chr 5:65,872,539...65,897,212
JBrowse link
G TIGAR TP53 induced glycolysis regulatory phosphatase ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 5:66,044,679...66,067,571
Ensembl chr 5:66,044,686...66,067,377
JBrowse link
G VWF von Willebrand factor ISO ClinVar Annotator: match by term: Episodic ataxia type 1 ClinVar PMID:28492532 NCBI chr 5:64,516,627...64,655,938
Ensembl chr 5:64,519,186...65,002,452
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17416
    Pathological Conditions, Signs and Symptoms 11770
      Signs and Symptoms 9715
        Neurologic Manifestations 9396
          Neuromuscular Manifestations 756
            Myokymia 18
              Benign Familial Neonatal Seizures, 1 2
              Benign Neonatal Epilepsy 1, and/or Myokymia 1
              Continuous Muscle Fiber Activity, Hereditary 0
              Dyskinesia with Orofacial Involvement + 1
              Myokymia with Neonatal Epilepsy 0
              episodic ataxia type 1 15
paths to the root