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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 ISO OMIM NCBI chr 7:135,308,966...135,346,734
Ensembl chr 7:147,801,440...147,836,701
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13774
    physical disorder 2958
      congenital myopathy 30
        myotonia congenita 10
          Myotonia Congenita, Autosomal Dominant 1
Path 2
Term Annotations click to browse term
  disease 13774
    disease of anatomical entity 13429
      nervous system disease 11162
        peripheral nervous system disease 2386
          neuropathy 2210
            neuromuscular disease 1746
              muscular disease 1165
                muscle tissue disease 770
                  myopathy 609
                    muscular dystrophy 300
                      myotonic disease 18
                        myotonia congenita 10
                          Myotonia Congenita, Autosomal Dominant 1
paths to the root