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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: ICD9CM:359.2;   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 4:120,302,768...120,311,694
Ensembl chr 4:120,302,771...120,311,637
JBrowse link
G Dmpk DM1 protein kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24039817 NCBI chr 1:78,730,255...78,740,585
Ensembl chr 1:78,730,275...78,740,593
JBrowse link
G Mbnl1 muscleblind-like splicing regulator 1 ISS MouseDO NCBI chr 2:144,639,819...144,814,395
Ensembl chr 2:144,670,285...144,814,368
JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18084293 NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934
JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545
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 chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
JBrowse link
G Hmgn2 high mobility group nucleosomal binding domain 2 ISS OMIM:180500 MouseDO NCBI chr 5:146,192,126...146,195,580
Ensembl chr 5:146,192,126...146,195,521
JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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 More... NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
JBrowse link
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 4:95,075,736...95,237,921
Ensembl chr 4:95,075,768...95,238,301
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
RGD
PMID:8841193 PMID:9367679 PMID:9536098 PMID:10914677 PMID:16199547 More... RGD:734618 NCBI chr 1:181,026,606...181,044,859 JBrowse link
G Atxn2l ataxin 2-like ISO ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:17882224 PMID:24707176 PMID:28492532 NCBI chr 1:181,078,293...181,090,079
Ensembl chr 1:181,078,288...181,089,686
JBrowse link
G Rabep2 rabaptin, RAB GTPase binding effector protein 2 ISO ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:8841193 PMID:10914677 PMID:17882224 PMID:23911890 PMID:24707176 More... NCBI chr 1:181,010,305...181,026,651
Ensembl chr 1:181,010,305...181,026,648
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 1:181,048,622...181,057,036
Ensembl chr 1:181,048,623...181,056,579
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 1:181,073,788...181,077,395
Ensembl chr 1:181,073,788...181,077,395
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 generalized
ClinVar Annotator: match by term: Myotonia congenita
ClinVar Annotator: match by term: Myotonia levior
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
ClinVar
CTD
RGD
PMID:1379744 PMID:7581380 PMID:7874130 PMID:7951215 PMID:7981750 More... RGD:704389 NCBI chr 4:71,171,949...71,201,483
Ensembl chr 4:71,172,547...71,199,984
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 NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545
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: Thomsen's disease
ClinVar Annotator: match by term: Congenital myotonia, autosomal dominant form
OMIM
ClinVar
PMID:1379744 PMID:7581380 PMID:7874130 PMID:7951215 PMID:7981750 More... NCBI chr 4:71,171,949...71,201,483
Ensembl chr 4:71,172,547...71,199,984
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 More... NCBI chr 4:71,171,949...71,201,483
Ensembl chr 4:71,172,547...71,199,984
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
RGD
PMID:18414213 PMID:25637381 PMID:25741868 PMID:8595416 RGD:1600900 NCBI chr 1:78,730,255...78,740,585
Ensembl chr 1:78,730,275...78,740,593
JBrowse link
G Ldb3 LIM domain binding 3 ISO mRNA, protein:alternative form:exon RGD PMID:24878509 RGD:12792205 NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532
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 ClinVar Annotator: match by term: Myotonic dystrophy type 2 OMIM
ClinVar
PMID:25741868 NCBI chr 4:120,302,768...120,311,694
Ensembl chr 4:120,302,771...120,311,637
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 PMID:28492532 NCBI chr 4:66,760,159...66,842,110
Ensembl chr 4:66,760,159...66,842,110
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 More... NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
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:9536098 PMID:17576681 PMID:23736855 PMID:25741868 PMID:28411587 More... NCBI chr 7:63,343,078...63,350,590
Ensembl chr 7:63,343,186...63,350,589
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 More... NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545
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: Sodium channel muscle disease
ClinVar Annotator: match by term: Potassium aggravated myotonia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:608390
DNA: missense mutation: exon : p.L1436P
ClinVar Annotator: match by term: Myotonia congenita, atypical, acetazolamide-responsive
OMIM
ClinVar
CTD
RGD
PMID:1310898 PMID:1338909 PMID:3822145 PMID:7473241 PMID:7695243 More... RGD:13208523 NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      musculoskeletal system disease 6466
        muscular disease 1283
          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 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        peripheral nervous system disease 2565
          neuropathy 2360
            neuromuscular disease 1879
              muscular disease 1283
                muscle tissue disease 832
                  myopathy 666
                    muscular dystrophy 326
                      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