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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:A muscle tissue disease that is characterised by slow muscle relaxation associated with hyperexcitation of the muscle fibres. (DO)
Synonyms:exact_synonym: Batten Turner congenital myopathy;   Congenital Myotonia;   Generalized Myotonia;   Generalized Myotonias;   myotonia levior
 narrow_synonym: MYOTONIA WITH WARM-UP PHENOMENON
 primary_id: MESH:D009224
 alt_id: OMIM:255300
 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 generalized
ClinVar Annotator: match by term: Myotonia congenita
ClinVar Annotator: match by term: Myotonia levior
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:1379744 PMID:7581380 PMID:7874130 PMID:8301644 PMID:8533761 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 CTD PMID:1316765 NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545
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
Ensembl chr 1:181,026,608...181,044,838
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, 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 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
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
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: Sodium channel muscle disease
ClinVar Annotator: match by term: Potassium-aggravated myotonia
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:1316765 PMID:1338909 PMID:3822145 PMID:7473241 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 17445
    physical disorder 3128
      congenital myopathy 32
        myotonia congenita 10
          Brody myopathy 5
          Myotonia Congenita, Autosomal Dominant 1
          Myotonia Congenita, Autosomal Recessive 1
          Myotonia with Skeletal Abnormalities and Mental Retardation 0
          Native American myopathy 3
          Potassium Aggravated Myotonia 1
Path 2
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      nervous system disease 12215
        peripheral nervous system disease 2586
          neuropathy 2377
            neuromuscular disease 1890
              muscular disease 1291
                muscle tissue disease 835
                  myopathy 671
                    muscular dystrophy 328
                      myotonic disease 20
                        myotonia congenita 10
                          Brody myopathy 5
                          Myotonia Congenita, Autosomal Dominant 1
                          Myotonia Congenita, Autosomal Recessive 1
                          Myotonia with Skeletal Abnormalities and Mental Retardation 0
                          Native American myopathy 3
                          Potassium Aggravated Myotonia 1
paths to the root