Send us a Message

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


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 Dominant
go back to main search page
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.

show annotations for term's descendants           Sort by:
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 ISO OMIM NCBI chr18:6,902,540...6,941,530
Ensembl chr18:6,902,542...6,966,092
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13489
    physical disorder 2836
      congenital myopathy 29
        myotonia congenita 10
          Myotonia Congenita, Autosomal Dominant 1
Path 2
Term Annotations click to browse term
  disease 13489
    disease of anatomical entity 13152
      nervous system disease 10902
        peripheral nervous system disease 2348
          neuropathy 2171
            neuromuscular disease 1726
              muscular disease 1138
                muscle tissue disease 770
                  myopathy 607
                    muscular dystrophy 291
                      myotonic disease 18
                        myotonia congenita 10
                          Myotonia Congenita, Autosomal Dominant 1
paths to the root