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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.


GViewer not supported for chinchilla.
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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 ISO OMIM NCBI chrNW_004955494:318,137...349,568
Ensembl chrNW_004955494:319,738...348,511
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12680
    physical disorder 2860
      congenital myopathy 28
        myotonia congenita 10
          Myotonia Congenita, Autosomal Dominant 1
Path 2
Term Annotations click to browse term
  disease 12680
    disease of anatomical entity 12357
      nervous system disease 10304
        peripheral nervous system disease 2289
          neuropathy 2122
            neuromuscular disease 1671
              muscular disease 1121
                muscle tissue disease 743
                  myopathy 587
                    muscular dystrophy 287
                      myotonic disease 17
                        myotonia congenita 10
                          Myotonia Congenita, Autosomal Dominant 1
paths to the root