Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:Potassium Aggravated Myotonia
go back to main search page
Accession:DOID:9005884 term browser browse the term
Synonyms:exact_synonym: MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE;   Myotonia congenita, acetazolamide-responsive;   Myotonia congenita, atypical;   SODIUM CHANNEL MUSCLE DISEASE;   Sodium Channel Myotonia;   myotonia fluctuans;   myotonia permanens
 narrow_synonym: MYOTONIA CONGENITA, ATYPICAL LARYNGOSPASM, SEVERE NEONATAL EPISODIC;   SNEL
 primary_id: MESH:C538353
 alt_id: OMIM:608390;   RDO:0004322
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Potassium Aggravated Myotonia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by OMIM:608390
CTD Direct Evidence: marker/mechanism
DNA: missense mutation: exon : p.L1436P
ClinVar Annotator: match by term: Potassium aggravated myotonia
ClinVar Annotator: match by term: Myotonia congenita, atypical, acetazolamide-responsive
ClinVar Annotator: match by term: Potassium-aggravated myotonia
ClinVar Annotator: match by term: Sodium channel muscle disease
OMIM
ClinVar
CTD
PMID:1310898 PMID:1338909 PMID:3822145 PMID:7473241 PMID:7695243 PMID:7965854 PMID:7980103 PMID:8044656 PMID:8058156 PMID:8242056 PMID:8308722 PMID:8580427 PMID:9266738 PMID:9336185 PMID:9392583 PMID:9660885 PMID:9771789 PMID:10218481 PMID:11744749 PMID:12898257 PMID:15037716 PMID:15534250 PMID:15774523 PMID:16392038 PMID:16624558 PMID:16786525 PMID:16832098 PMID:17334961 PMID:17823953 PMID:18046642 PMID:18166706 PMID:18337100 PMID:18337730 PMID:18414213 PMID:19840739 PMID:20445432 PMID:20522878 PMID:20681998 PMID:20713951 PMID:20981092 PMID:21664816 PMID:21698652 PMID:22094069 PMID:22653516 PMID:22759684 PMID:23516313 PMID:23771340 PMID:23810313 PMID:23884711 PMID:24939454 PMID:25088311 PMID:25311598 PMID:25348405 PMID:25724373 PMID:25741868 PMID:25755818 PMID:25839108 PMID:26036855 PMID:26080010 PMID:26423924 PMID:26467025 PMID:26885337 PMID:26944947 PMID:27415035 PMID:27486940 PMID:27714768 PMID:27858759 PMID:28150151 PMID:28166811 PMID:28492532 PMID:28877545 PMID:29606556, PMID:21664816 RGD:13208523 NCBI chr10:94,505,026...94,557,803
Ensembl chr10:94,505,026...94,557,764
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    physical disorder 2960
      congenital myopathy 32
        myotonia congenita 10
          Potassium Aggravated Myotonia 1
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        peripheral nervous system disease 2431
          neuropathy 2235
            neuromuscular disease 1779
              muscular disease 1190
                muscle tissue disease 813
                  myopathy 649
                    muscular dystrophy 315
                      myotonic disease 20
                        myotonia congenita 10
                          Potassium Aggravated Myotonia 1
paths to the root