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RGD uses the Human Disease Ontology (DO, 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:Myotonia Congenita, Autosomal Recessive
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Accession:DOID:9009057 term browser browse the term
Definition:A nondystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. (OMIM)
 primary_id: OMIM:255700
For additional species annotation, visit the Alliance of Genome Resources.

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Myotonia Congenita, Autosomal Recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn1 chloride voltage-gated channel 1 ISO ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form ClinVar
PMID:1379744 PMID:7581380 PMID:7874130 PMID:7951215 PMID:7951242 PMID:7981750 PMID:8112288 PMID:8301644 PMID:8533761 PMID:8571958 PMID:8845168 PMID:8857727 PMID:8857733 PMID:9040658 PMID:9040760 PMID:9122265 PMID:9158157 PMID:9536098 PMID:9566422 PMID:9736066 PMID:9736777 PMID:10051520 PMID:10215406 PMID:10430417 PMID:10533075 PMID:10619717 PMID:10644771 PMID:10665666 PMID:10690989 PMID:10737121 PMID:10962018 PMID:11113225 PMID:11408615 PMID:11840191 PMID:11933197 PMID:12163078 PMID:12390967 PMID:12456816 PMID:12566541 PMID:12661046 PMID:14639587 PMID:15116370 PMID:15162127 PMID:15241802 PMID:15311340 PMID:15786415 PMID:15980168 PMID:16027167 PMID:16629771 PMID:16786525 PMID:17042925 PMID:17097617 PMID:17107341 PMID:17576681 PMID:17654559 PMID:17932099 PMID:17990293 PMID:18035046 PMID:18220014 PMID:18263754 PMID:18337100 PMID:18337730 PMID:18807109 PMID:18816629 PMID:19697366 PMID:19882638 PMID:19949657 PMID:20047568 PMID:20181190 PMID:20301529 PMID:20398785 PMID:21045501 PMID:21204798 PMID:21221019 PMID:21387378 PMID:21520333 PMID:21698652 PMID:22094069 PMID:22197187 PMID:22246887 PMID:22346025 PMID:22407275 PMID:22521272 PMID:22641783 PMID:22649220 PMID:22790975 PMID:22921319 PMID:22987687 PMID:22995991 PMID:23097607 PMID:23113340 PMID:23152584 PMID:23225051 PMID:23408874 PMID:23417379 PMID:23424641 PMID:23456831 PMID:23516313 PMID:23603549 PMID:23739125 PMID:23810313 PMID:23893571 PMID:23933576 PMID:24033266 PMID:24037712 PMID:24064982 PMID:24088041 PMID:24304580 PMID:24349310 PMID:24452722 PMID:24515601 PMID:24530047 PMID:24625573 PMID:24705798 PMID:24920213 PMID:25036107 PMID:25065301 PMID:25088311 PMID:25438602 PMID:25487368 PMID:25741868 PMID:25749817 PMID:25852444 PMID:26007199 PMID:26021757 PMID:26036855 PMID:26042048 PMID:26096614 PMID:26260254 PMID:26467025 PMID:26471370 PMID:26502825 PMID:26510092 PMID:26633545 PMID:27066551 PMID:27098784 PMID:27118449 PMID:27142102 PMID:27199537 PMID:27266866 PMID:27296017 PMID:27415035 PMID:27580824 PMID:27614575 PMID:27653901 PMID:27666773 PMID:27927941 PMID:28166811 PMID:28427807 PMID:28492532 PMID:28662944 PMID:28706458 PMID:29405036 PMID:29424939 PMID:29480456 PMID:29606556 PMID:29935101 PMID:30243293 PMID:31054297 PMID:31544778 PMID:31567646 PMID:32117024 PMID:32214227 PMID:85337161 PMID:111113225 NCBI chr 4:71,674,218...71,704,318
Ensembl chr 4:71,675,383...71,702,819
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    physical disorder 2960
      congenital myopathy 32
        myotonia congenita 10
          Myotonia Congenita, Autosomal Recessive 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
                          Myotonia Congenita, Autosomal Recessive 1
paths to the root