ONTOLOGY REPORT - ANNOTATIONS


Term:Myotonia
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Accession:DOID:9008993 term browser browse the term
Definition:Prolonged failure of muscle relaxation after contraction. This may occur after voluntary contractions, muscle percussion, or electrical stimulation of the muscle. Myotonia is a characteristic feature of MYOTONIC DISORDERS.
Synonyms:exact_synonym: Myotonias;   Myotonic Phenomenon;   Myotonic Phenomenons;   Percussion Myotonia;   Percussion Myotonias
 primary_id: MESH:D009222;   RDO:0001745
 alt_id: OMIA:000698
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Myotonia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcn1 chloride voltage-gated channel 1 JBrowse link 4 71,674,218 71,704,318 RGD:8554872
G Dmpk DM1 protein kinase JBrowse link 1 79,988,096 79,999,358 RGD:11554173
G Mbnl1 muscleblind-like splicing regulator 1 JBrowse link 2 150,698,248 150,867,791 RGD:11554173
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
G Scn4a sodium voltage-gated channel alpha subunit 4 JBrowse link 10 94,505,026 94,557,803 RGD:11554173
RGD:8554872

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  disease 14926
    Pathological Conditions, Signs and Symptoms 7756
      Signs and Symptoms 4477
        Neurologic Manifestations 3392
          Neuromuscular Manifestations 328
            Myotonia 5
              Myopathy, Granulovacuolar Lobular, with Electrical Myotonia 0
              Nondystrophic Myotonia 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.