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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
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Accession:DOID:2106 term browser browse the term
Definition:Inherited myotonic disorders with early childhood onset MYOTONIA. Muscular hypertrophy is common and myotonia may impair ambulation and other movements. It is classified as Thomsen (autosomal dominant) or Becker (autosomal recessive) generalized myotonia mainly based on the inheritance pattern. Becker type is also clinically more severe. An autosomal dominant variant with milder symptoms and later onset is known as myotonia levior. Mutations in the voltage-dependent skeletal muscle chloride channel are associated with the disorders.
Synonyms:exact_synonym: Batten Turner congenital myopathy;   Congenital Myotonia;   Generalized Myotonia;   Generalized Myotonias;   myotonia levior
 primary_id: MESH:D009224
 alt_id: OMIM:255300;   RDO:0002238
 xref: GARD:12301;   ICD9CM:359.22;   NCI:C84912;   ORDO:614
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
myotonia congenita term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn1 chloride voltage-gated channel 1 ISO ClinVar Annotator: match by term: Myotonia congenita
ClinVar Annotator: match by term: Myotonia levior
ClinVar Annotator: match by term: Myotonia generalized
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
ClinVar
CTD
PMID:7581380, PMID:7874130, PMID:7951215, PMID:7981750, PMID:8112288, PMID:8533761, PMID:8571958, PMID:8845168, PMID:8857727, PMID:8857733, PMID:9040658, PMID:9122265, PMID:9158157, PMID:9566422, PMID:9736066, PMID:9736777, PMID:10051520, PMID:10215406, PMID:10430417, PMID:10533075, PMID:10644771, PMID:10665666, PMID:10690989, PMID:10737121, PMID:10962018, PMID:11113225, PMID:11408615, PMID:11840191, PMID:11933197, PMID:12163078, PMID:12390967, PMID:12456816, PMID:12456818, PMID:12566541, PMID:12661046, PMID:14639587, PMID:15162127, PMID:15241802, PMID:15311340, PMID:15786415, PMID:15980168, PMID:16027167, PMID:16629771, PMID:17097617, PMID:17107341, PMID:17654559, PMID:17932099, PMID:17990293, PMID:18035046, PMID:18220014, PMID:18263754, PMID:18337100, PMID:18337730, PMID:18807109, PMID:19882638, PMID:19949657, PMID:20301529, PMID:20399394, PMID:21221019, PMID:21387378, PMID:21698652, PMID:22094069, PMID:22197187, PMID:22407275, PMID:22521272, PMID:22641783, PMID:22649220, PMID:22995991, PMID:23097607, PMID:23113340, PMID:23152584, PMID:23225051, PMID:23408874, PMID:23417379, PMID:23424641, PMID:23516313, PMID:23739125, PMID:23893571, PMID:23933576, PMID:24033266, PMID:24037712, PMID:24088041, PMID:24304580, PMID:24349310, PMID:24452722, PMID:24530047, PMID:24625573, PMID:24705798, PMID:24920213, PMID:25036107, PMID:25065301, PMID:25088311, PMID:25438602, PMID:25741868, PMID:25749817, PMID:25852444, PMID:26021757, PMID:26036855, PMID:26096614, PMID:26467025, PMID:26510092, PMID:26633545, PMID:27066551, PMID:27098784, PMID:27142102, PMID:27199537, PMID:27266866, PMID:27296017, PMID:27415035, PMID:27580824, PMID:27614575, PMID:27927941, PMID:28427807, PMID:28492532, PMID:29606556, PMID:30311386, PMID:111113225, PMID:7951242 RGD:704389 NCBI chr 4:71,674,218...71,704,318
Ensembl chr 4:71,675,383...71,702,819
JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Myotonia congenita
CTD
ClinVar
PMID:1316765, PMID:25741868, PMID:30311386 NCBI chr10:94,505,026...94,557,803
Ensembl chr10:94,505,026...94,557,764
JBrowse link
Brody myopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 ISO ClinVar Annotator: match by term: Brody myopathy
ClinVar Annotator: match by OMIM:601003
ClinVar Annotator: match by null
ClinVar
OMIM
PMID:8841193, PMID:9367679, PMID:10914677, PMID:17882224, PMID:19763152, PMID:20307669, PMID:22406018, PMID:23757202, PMID:23911890, PMID:24033266, PMID:24707176, PMID:25614869, PMID:26248958, PMID:26467025, PMID:28492532, PMID:8841193 RGD:734618 NCBI chr 1:197,855,912...197,875,038 JBrowse link
G Atxn2l ataxin 2-like ISO ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:17882224, PMID:24707176, PMID:28492532 NCBI chr 1:197,908,087...197,920,400
Ensembl chr 1:197,908,094...197,919,560
JBrowse link
G Rabep2 rabaptin, RAB GTPase binding effector protein 2 ISO ClinVar Annotator: match by term: Brody myopathy ClinVar NCBI chr 1:197,839,583...197,855,953
Ensembl chr 1:197,839,430...197,856,312
JBrowse link
G Sh2b1 SH2B adaptor protein 1 ISO ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:17882224, PMID:24707176, PMID:28492532 NCBI chr 1:197,878,839...197,888,223
Ensembl chr 1:197,878,840...197,886,759
JBrowse link
G Tufm Tu translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:17882224, PMID:24707176, PMID:28492532 NCBI chr 1:197,903,582...197,907,189
Ensembl chr 1:197,903,582...197,907,189
JBrowse link
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 ClinVar Annotator: match by term: Congenital myotonia, autosomal dominant form
ClinVar Annotator: match by term: Thomsen's disease
OMIM
ClinVar
PMID:1379744, PMID:7581380, PMID:7874130, PMID:7981750, PMID:8112288, PMID:8301644, PMID:8533761, PMID:8845168, PMID:8857727, PMID:8857733, PMID:9040760, PMID:9122265, PMID:9158157, PMID:9736777, PMID:10051520, PMID:10430417, PMID:10533075, PMID:10644771, PMID:10665666, PMID:10690989, PMID:10737121, PMID:10962018, PMID:11840191, PMID:11933197, PMID:12163078, PMID:12390967, PMID:12456816, PMID:12456818, PMID:12661046, PMID:14639587, PMID:15162127, PMID:15980168, PMID:17107341, PMID:17654559, PMID:17932099, PMID:17990293, PMID:18220014, PMID:18263754, PMID:18337100, PMID:18337730, PMID:18807109, PMID:19949657, PMID:20301529, PMID:21045501, PMID:21204798, PMID:21221019, PMID:21698652, PMID:22094069, PMID:22197187, PMID:22407275, PMID:22521272, PMID:22641783, PMID:22649220, PMID:22995991, PMID:23097607, PMID:23113340, PMID:23739125, PMID:23933576, PMID:24033266, PMID:24037712, PMID:24088041, PMID:24304580, PMID:24349310, PMID:24452722, PMID:24625573, PMID:24920213, PMID:25036107, PMID:25088311, PMID:25741868, PMID:25749817, PMID:26096614, PMID:26260254, PMID:26467025, PMID:26510092, PMID:26633545, PMID:27118449, PMID:27142102, PMID:27199537, PMID:27266866, PMID:27296017, PMID:27415035, PMID:27614575, PMID:28492532, PMID:28706458, PMID:29606556, PMID:30311386 NCBI chr 4:71,674,218...71,704,318
Ensembl chr 4:71,675,383...71,702,819
JBrowse link
Myotonia Congenita, Autosomal Recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn1 chloride voltage-gated channel 1 ISO ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form
ClinVar Annotator: match by term: Myotonia generalized
ClinVar
OMIM
PMID:1379744, PMID:7581380, PMID:7874130, PMID:7951215, PMID:7951242, PMID:7981750, PMID:8112288, PMID:8301644, PMID:8533761, PMID:8571958, PMID:8845168, PMID:8857727, PMID:8857733, PMID:9040658, PMID:9040760, PMID:9122265, PMID:9158157, PMID:9566422, PMID:9736066, PMID:9736777, PMID:10051520, PMID:10215406, PMID:10430417, PMID:10533075, PMID:10619717, PMID:10644771, PMID:10665666, PMID:10690989, PMID:10737121, PMID:10962018, PMID:11113225, PMID:11408615, PMID:11840191, PMID:11933197, PMID:12163078, PMID:12390967, PMID:12456816, PMID:12456818, PMID:12566541, PMID:12661046, PMID:14639587, PMID:15116370, PMID:15162127, PMID:15241802, PMID:15311340, PMID:15786415, PMID:15980168, PMID:16027167, PMID:16629771, PMID:17097617, PMID:17107341, PMID:17654559, PMID:17932099, PMID:17990293, PMID:18035046, PMID:18220014, PMID:18263754, PMID:18337100, PMID:18337730, PMID:18807109, PMID:18816629, PMID:19697366, PMID:19882638, PMID:19949657, PMID:20047568, PMID:20181190, PMID:20301529, PMID:20398785, PMID:21045501, PMID:21204798, PMID:21221019, PMID:21387378, PMID:21520333, PMID:21698652, PMID:22094069, PMID:22197187, PMID:22246887, PMID:22346025, PMID:22407275, PMID:22521272, PMID:22641783, PMID:22649220, PMID:22790975, PMID:22921319, PMID:22987687, PMID:22995991, PMID:23097607, PMID:23113340, PMID:23152584, PMID:23225051, PMID:23408874, PMID:23417379, PMID:23424641, PMID:23456831, PMID:23516313, PMID:23603549, PMID:23739125, PMID:23810313, PMID:23893571, PMID:23933576, PMID:24033266, PMID:24037712, PMID:24088041, PMID:24304580, PMID:24349310, PMID:24452722, PMID:24515601, PMID:24530047, PMID:24625573, PMID:24705798, PMID:24920213, PMID:25036107, PMID:25065301, PMID:25088311, PMID:25438602, PMID:25487368, PMID:25741868, PMID:25749817, PMID:25852444, PMID:26007199, PMID:26021757, PMID:26036855, PMID:26042048, PMID:26096614, PMID:26260254, PMID:26467025, PMID:26502825, PMID:26510092, PMID:26633545, PMID:27066551, PMID:27098784, PMID:27118449, PMID:27142102, PMID:27199537, PMID:27266866, PMID:27296017, PMID:27415035, PMID:27580824, PMID:27614575, PMID:27653901, PMID:27666773, PMID:27927941, PMID:28427807, PMID:28492532, PMID:28662944, PMID:28706458, PMID:29405036, PMID:29424939, PMID:29480456, PMID:29606556, PMID:29935101, PMID:30243293, PMID:30311386, PMID:32214227, PMID:85337161, PMID:111113225 NCBI chr 4:71,674,218...71,704,318
Ensembl chr 4:71,675,383...71,702,819
JBrowse link
Native American myopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stac3 SH3 and cysteine rich domain 3 ISO ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH MYOPATHIC FACIES, SCOLIOSIS, AND MALIGNANT HYPERTHERMIA
ClinVar Annotator: match by term: Congenital myopathy cleft palate and malignant hyperthermia
ClinVar Annotator: match by term: Native American myopathy
OMIM
ClinVar
PMID:23736855, PMID:25741868, PMID:28411587, PMID:28492532, PMID:28777491, PMID:30168660, PMID:31219695 NCBI chr 7:70,807,427...70,815,271
Ensembl chr 7:70,807,867...70,815,270
JBrowse link
Potassium Aggravated Myotonia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Potassium aggravated myotonia
ClinVar Annotator: match by OMIM:608390
CTD Direct Evidence: marker/mechanism
DNA: missense mutation: exon : p.L1436P
ClinVar Annotator: match by term: Myotonia congenita, atypical, acetazolamide-responsive
OMIM
ClinVar
CTD
PMID:1310898, PMID:1338909, PMID:3822145, PMID:7473241, PMID:7695243, PMID:7980103, PMID:8044656, PMID:8058156, PMID:8242056, PMID:8308722, PMID:9266738, PMID:9336185, PMID:9392583, PMID:9771789, PMID:10218481, PMID:10944223, PMID:11744749, PMID:12898257, PMID:15037716, PMID:15482957, PMID:15534250, PMID:15774523, PMID:16392038, PMID:16624558, PMID:16786525, PMID:16832098, PMID:17334961, PMID:17823953, PMID:18166706, PMID:18337100, PMID:18337730, PMID:18414213, PMID:19118277, PMID:19840739, PMID:20445432, PMID:20522878, PMID:20681998, PMID:20713951, PMID:22094069, PMID:22653516, PMID:22759684, PMID:23771340, PMID:23810313, PMID:23884711, PMID:25088311, PMID:25311598, PMID:25348405, PMID:25724373, PMID:25741868, PMID:25755818, PMID:25839108, PMID:26080010, PMID:26423924, PMID:26427606, PMID:26467025, PMID:26484179, PMID:26700687, PMID:26885337, PMID:26944947, PMID:27415035, PMID:27714768, PMID:27858759, PMID:28150151, PMID:28492532, PMID:28877545, PMID:29606556, PMID:30311386, PMID:21664816 RGD:13208523 NCBI chr10:94,505,026...94,557,803
Ensembl chr10:94,505,026...94,557,764
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        neurodegenerative disease 3186
          Nervous System Heredodegenerative Disorders 1947
            myotonia congenita 8
              Brody myopathy 5
              Myotonia Congenita, Autosomal Dominant 1
              Myotonia Congenita, Autosomal Recessive 1
              Myotonia with Skeletal Abnormalities and Mental Retardation 0
              Native American myopathy 1
              Potassium Aggravated Myotonia 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        peripheral nervous system disease 2472
          neuropathy 2293
            neuromuscular disease 1775
              muscular disease 1196
                muscle tissue disease 809
                  myopathy 665
                    muscular dystrophy 326
                      myotonic disease 18
                        myotonia congenita 8
                          Brody myopathy 5
                          Myotonia Congenita, Autosomal Dominant 1
                          Myotonia Congenita, Autosomal Recessive 1
                          Myotonia with Skeletal Abnormalities and Mental Retardation 0
                          Native American myopathy 1
                          Potassium Aggravated Myotonia 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.