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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:myotonic disease
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Accession:DOID:450 term browser browse the term
Definition:A muscular dystrophy that is characterized by progressive muscle wasting and weakness. (DO)
Synonyms:exact_synonym: myotonic disorder;   myotonic disorders;   myotonic myopathies;   myotonic myopathy
 primary_id: MESH:D020967
 alt_id: MESH:D009223
 xref: NCI:C84913;   OMIM:PS160900
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
myotonic disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnbp CCHC-type zinc finger, nucleic acid binding protein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:119,747,890...119,756,787
Ensembl chr 4:119,747,911...119,756,765
JBrowse link
G Dmpk DM1 protein kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24039817 NCBI chr 1:79,988,096...79,999,358
Ensembl chr 1:79,989,019...79,999,364
JBrowse link
G Mbnl1 muscleblind-like splicing regulator 1 ISS MouseDO NCBI chr 2:150,698,248...150,867,791
Ensembl chr 2:150,756,185...150,869,690
JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18084293 NCBI chr10:16,635,989...16,638,758
Ensembl chr10:16,635,989...16,638,764
JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:94,505,026...94,557,803
Ensembl chr10:94,505,026...94,557,764
JBrowse link
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr17:33,947,501...33,951,484
Ensembl chr17:33,947,506...33,951,484
JBrowse link
G Hmgn2 high mobility group nucleosomal binding domain 2 ISS OMIM:180500 MouseDO NCBI chr 5:152,195,359...152,198,813
Ensembl chr 5:152,195,361...152,198,813
JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
JBrowse link
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:180500
OMIM
ClinVar
CTD
PMID:8944018 PMID:9685346 PMID:10490637 PMID:10502778 PMID:10644443 PMID:11301317 PMID:11487566 PMID:12612071 PMID:14623826 PMID:14630904 PMID:15378534 PMID:15728254 PMID:16498627 PMID:18045789 PMID:18723525 PMID:19052653 PMID:20881294 PMID:22569110 PMID:25741868 PMID:26220699 PMID:28492532 PMID:29100920 NCBI chr 2:233,602,732...233,621,059
Ensembl chr 2:233,602,732...233,621,129
JBrowse link
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 4:96,659,062...96,810,816
Ensembl chr 4:96,659,084...96,812,263
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 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 with warm-up phenomenon
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
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:7951215 PMID:7981750 PMID:8112288 PMID:8301644 PMID:8533761 PMID:8571958 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:23893571 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 PMID:32117034 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
myotonic dystrophy type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmpk DM1 protein kinase ISO DNA:trinucleotide expansion:3'UTR
ClinVar Annotator: match by term: Dystrophia myotonica
ClinVar Annotator: match by term: DYSTROPHIA MYOTONICA
ClinVar Annotator: match by OMIM:160900
ClinVar
OMIM
PMID:18414213 PMID:25637381 PMID:25741868, PMID:8595416 RGD:1600900 NCBI chr 1:79,988,096...79,999,358
Ensembl chr 1:79,989,019...79,999,364
JBrowse link
G Ldb3 LIM domain binding 3 ISO mRNA, protein:alternative form:exon RGD PMID:24878509 RGD:12792205 NCBI chr16:10,878,348...10,943,016
Ensembl chr16:10,878,334...10,941,501
JBrowse link
myotonic dystrophy type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnbp CCHC-type zinc finger, nucleic acid binding protein ISO OMIM NCBI chr 4:119,747,890...119,756,787
Ensembl chr 4:119,747,911...119,756,765
JBrowse link
Native American myopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v0a4 ATPase H+ transporting V0 subunit a4 ISO ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH MYOPATHIC FACIES, SCOLIOSIS, AND MALIGNANT HYPERTHERMIA ClinVar PMID:24033266 PMID:25741868 NCBI chr 4:65,736,585...65,821,916
Ensembl chr 4:65,736,585...65,818,521
JBrowse link
G Insr insulin receptor ISO ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH MYOPATHIC FACIES, SCOLIOSIS, AND MALIGNANT HYPERTHERMIA ClinVar PMID:2040394 PMID:8432414 PMID:8900242 PMID:10084586 PMID:11463381 PMID:25741868 PMID:27896077 PMID:28492532 NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
JBrowse link
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
paramyotonia congenita of Von Eulenburg 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: Paramyotonia congenita of von Eulenburg OMIM
ClinVar
PMID:1310898 PMID:1316765 PMID:2649440 PMID:7473241 PMID:7533571 PMID:7676326 PMID:7695243 PMID:7809121 PMID:7980103 PMID:8005599 PMID:8044656 PMID:8110459 PMID:8242056 PMID:8308722 PMID:8388676 PMID:8580427 PMID:8583225 PMID:8740371 PMID:8902732 PMID:8910215 PMID:9130156 PMID:9266738 PMID:9508833 PMID:9660885 PMID:9771789 PMID:10206477 PMID:10227633 PMID:10369308 PMID:10727489 PMID:10944223 PMID:11744749 PMID:11971097 PMID:12483017 PMID:12552059 PMID:12562902 PMID:12872329 PMID:12898257 PMID:14518676 PMID:14617673 PMID:15389891 PMID:15482957 PMID:15534250 PMID:15596759 PMID:15774523 PMID:15790667 PMID:16392038 PMID:16624558 PMID:16801039 PMID:16832098 PMID:17823953 PMID:17998485 PMID:18033047 PMID:18046642 PMID:18166706 PMID:18337100 PMID:18337730 PMID:18414213 PMID:19015483 PMID:19015492 PMID:19052238 PMID:19118277 PMID:19201608 PMID:19770477 PMID:20076800 PMID:20445432 PMID:20522878 PMID:20681998 PMID:20713951 PMID:20981092 PMID:21220685 PMID:21490317 PMID:22094069 PMID:22250216 PMID:22257501 PMID:22507243 PMID:22643347 PMID:22926674 PMID:23771340 PMID:23810313 PMID:23884711 PMID:24939454 PMID:25088311 PMID:25311598 PMID:25348405 PMID:25741868 PMID:25755818 PMID:25839108 PMID:26080010 PMID:26423924 PMID:26427606 PMID:26467025 PMID:26484179 PMID:26494408 PMID:26700687 PMID:26834636 PMID:26885337 PMID:26944947 PMID:27199537 PMID:27415035 PMID:27486940 PMID:27714768 PMID:27858759 PMID:28150151 PMID:28492532 PMID:28779239 PMID:29606556 PMID:30311386 NCBI chr10:94,505,026...94,557,803
Ensembl chr10:94,505,026...94,557,764
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 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:18046642 PMID:18166706 PMID:18337100 PMID:18337730 PMID:18414213 PMID:19118277 PMID:19840739 PMID:20445432 PMID:20522878 PMID:20681998 PMID:20713951 PMID:20981092 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 16035
    disease of anatomical entity 15289
      musculoskeletal system disease 5761
        muscular disease 1223
          myotonic disease 20
            cylindrical spirals myopathy 0
            myotonia congenita + 10
            myotonic dystrophy type 1 + 7
            myotonic dystrophy type 2 1
            paramyotonia congenita of Von Eulenburg 1
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      nervous system disease 10903
        peripheral nervous system disease 2500
          neuropathy 2320
            neuromuscular disease 1805
              muscular disease 1223
                muscle tissue disease 830
                  myopathy 686
                    muscular dystrophy 331
                      myotonic disease 20
                        cylindrical spirals myopathy 0
                        myotonia congenita + 10
                        myotonic dystrophy type 1 + 7
                        myotonic dystrophy type 2 1
                        paramyotonia congenita of Von Eulenburg 1
paths to the root