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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:Myotonia Congenita, Autosomal Dominant
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Accession:DOID:9001336 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)
Synonyms:exact_synonym: THD;   THOMSEN DISEASE;   Thomsen Generalized Myotonia;   Thomsen's Disease;   Thomsens disease;   congenital myotonia, autosomal dominant form;   generalized myotonia of Thomsen
 primary_id: OMIM:160800
 alt_id: RDO:0008077
For additional species annotation, visit the Alliance of Genome Resources.


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Myotonia Congenita, Autosomal Dominant term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCN1 chloride voltage-gated channel 1 IAGP ClinVar Annotator: match by term: Congenital myotonia, autosomal dominant form OMIM
ClinVar
PMID:1379744 PMID:7581380 PMID:7874130 PMID:7951215 PMID:7981750 PMID:8112288 PMID:8301644 PMID:8533761 PMID:8571958 PMID:8845168 PMID:8857727 PMID:8857733 PMID:9040760 PMID:9122265 PMID:9158157 PMID:9736777 PMID:10051520 PMID:10430417 PMID:10533075 PMID:10644771 PMID:10665666 PMID:10690989 PMID:10737121 PMID:10962018 PMID:11840191 PMID:11933197 PMID:12163078 PMID:12390967 PMID:12456816 PMID:12661046 PMID:14639587 PMID:15162127 PMID:15786415 PMID:15980168 PMID:17107341 PMID:17654559 PMID:17932099 PMID:17990293 PMID:18220014 PMID:18263754 PMID:18337100 PMID:18337730 PMID:18807109 PMID:18816629 PMID:19949657 PMID:20301529 PMID:21045501 PMID:21204798 PMID:21221019 PMID:21387378 PMID:21698652 PMID:22094069 PMID:22197187 PMID:22407275 PMID:22521272 PMID:22641783 PMID:22649220 PMID:22995991 PMID:23097607 PMID:23113340 PMID:23408874 PMID:23739125 PMID:23893571 PMID:23933576 PMID:24033266 PMID:24037712 PMID:24088041 PMID:24304580 PMID:24349310 PMID:24452722 PMID:24625573 PMID:24920213 PMID:25036107 PMID:25088311 PMID:25741868 PMID:25749817 PMID:26096614 PMID:26260254 PMID:26467025 PMID:26510092 PMID:26633545 PMID:27118449 PMID:27142102 PMID:27199537 PMID:27266866 PMID:27296017 PMID:27415035 PMID:27614575 PMID:28166811 PMID:28427807 PMID:28492532 PMID:28662944 PMID:28706458 PMID:29606556 PMID:31544778 PMID:31567646 PMID:32117034 NCBI chr 7:143,316,111...143,352,083
Ensembl chr 7:143,316,111...143,352,083
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20158
    physical disorder 3476
      congenital myopathy 38
        myotonia congenita 14
          Myotonia Congenita, Autosomal Dominant 1
Path 2
Term Annotations click to browse term
  disease 20158
    disease of anatomical entity 18756
      nervous system disease 14794
        peripheral nervous system disease 2758
          neuropathy 2553
            neuromuscular disease 2034
              muscular disease 1360
                muscle tissue disease 907
                  myopathy 739
                    muscular dystrophy 359
                      myotonic disease 26
                        myotonia congenita 14
                          Myotonia Congenita, Autosomal Dominant 1
paths to the root