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ONTOLOGY REPORT - ANNOTATIONS


Term:myotonic disease
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Accession:DOID:450 term browser browse the term
Definition:Diseases characterized by MYOTONIA, which may be inherited or acquired. Myotonia may be restricted to certain muscles (e.g., intrinsic hand muscles) or occur as a generalized condition.
Synonyms:exact_synonym: Myotonic Disorder;   Myotonic Disorders;   Myotonic Myopathies;   Myotonic Myopathy
 primary_id: MESH:D020967
 alt_id: RDO:0000512;   RDO:0004543
 xref: NCI:C84913;   OMIM:PS160900
For additional species annotation, visit the Alliance of Genome Resources.


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myotonic disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mbnl1 muscleblind-like splicing regulator 1 JBrowse link 2 150,698,248 150,867,791 RGD:13592920
G Scn4a sodium voltage-gated channel alpha subunit 4 JBrowse link 10 94,505,026 94,557,803 RGD:11554173
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:11554173
G Hmgn2 high mobility group nucleosomal binding domain 2 JBrowse link 5 152,195,359 152,198,813 RGD:13592920
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:11554173
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:7240710
RGD:8554872
RGD:11554173
G Prdm5 PR/SET domain 5 JBrowse link 4 96,659,062 96,810,816 RGD:8554872
Brody myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 JBrowse link 1 197,855,912 197,875,038 RGD:734618
RGD:8554872
RGD:7240710
G Atxn2l ataxin 2-like JBrowse link 1 197,908,087 197,920,400 RGD:8554872
G Rabep2 rabaptin, RAB GTPase binding effector protein 2 JBrowse link 1 197,839,583 197,855,953 RGD:8554872
G Sh2b1 SH2B adaptor protein 1 JBrowse link 1 197,878,839 197,888,223 RGD:8554872
G Tufm Tu translation elongation factor, mitochondrial JBrowse link 1 197,903,582 197,907,189 RGD:8554872
myotonia congenita 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:704389
RGD:8554872
RGD:11554173
G Scn4a sodium voltage-gated channel alpha subunit 4 JBrowse link 10 94,505,026 94,557,803 RGD:11554173
RGD:8554872
Myotonia Congenita, Autosomal Dominant 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:7240710
RGD:8554872
Myotonia Congenita, Autosomal Recessive 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
RGD:7240710
myotonic dystrophy type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cnbp CCHC-type zinc finger, nucleic acid binding protein JBrowse link 4 119,747,890 119,756,787 RGD:11554173
G Dmpk DM1 protein kinase JBrowse link 1 79,988,096 79,999,358 RGD:1600900
RGD:8554872
RGD:11554173
RGD:7240710
G Ldb3 LIM domain binding 3 JBrowse link 16 10,878,348 10,943,016 RGD:12792205
G Nkx2-5 NK2 homeobox 5 JBrowse link 10 16,635,989 16,638,758 RGD:11554173
myotonic dystrophy type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cnbp CCHC-type zinc finger, nucleic acid binding protein JBrowse link 4 119,747,890 119,756,787 RGD:7240710
Native American myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stac3 SH3 and cysteine rich domain 3 JBrowse link 7 70,807,427 70,815,271 RGD:7240710
RGD:8554872
PARAMYOTONIA CONGENITA OF VON EULENBURG term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scn4a sodium voltage-gated channel alpha subunit 4 JBrowse link 10 94,505,026 94,557,803 RGD:7240710
RGD:8554872
Potassium Aggravated Myotonia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scn4a sodium voltage-gated channel alpha subunit 4 JBrowse link 10 94,505,026 94,557,803 RGD:7240710
RGD:8554872
RGD:11554173
RGD:13208523

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      musculoskeletal system disease 4281
        muscular disease 959
          myotonic disease 18
            PARAMYOTONIA CONGENITA OF VON EULENBURG 1
            cylindrical spirals myopathy 0
            myotonia congenita + 8
            myotonic dystrophy type 1 + 9
            myotonic dystrophy type 2 1
Path 2
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      nervous system disease 10224
        peripheral nervous system disease 2127
          neuropathy 1950
            neuromuscular disease 1522
              muscular disease 959
                muscle tissue disease 685
                  myopathy 552
                    muscular dystrophy 277
                      myotonic disease 18
                        PARAMYOTONIA CONGENITA OF VON EULENBURG 1
                        cylindrical spirals myopathy 0
                        myotonia congenita + 8
                        myotonic dystrophy type 1 + 9
                        myotonic dystrophy type 2 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.