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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:myoclonic dystonia
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Accession:DOID:0090033 term browser browse the term
Definition:A dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles and dystonia, usually torticollis or writer's cramp, that typically responds to alcohol and has onset in the first or second decade of life. (DO)
Synonyms:exact_synonym: Hereditary essential myoclonus;   Myoclonus-Dystonia;   alcohol-responsive dystonia;   myoclonus-dystonia syndrome
 primary_id: MESH:C536096
 alt_id: OMIM:159900;   RDO:0001528
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
myoclonic dystonia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casd1 CAS1 domain containing 1 ISO ClinVar Annotator: match by term: Myoclonic dystonia ClinVar PMID:2367709, PMID:10220438, PMID:10716258, PMID:11022010, PMID:11523564, PMID:11528394, PMID:12391338, PMID:12391355, PMID:12402271, PMID:12743249, PMID:12821748, PMID:12874409, PMID:15079037, PMID:15389977, PMID:15728306, PMID:16227522, PMID:16240355, PMID:17101905, PMID:17296918, PMID:17853490, PMID:18175340, PMID:18205193, PMID:18349702, PMID:18355305, PMID:18362280, PMID:19117362, PMID:22026499, PMID:22259621, PMID:23365103, PMID:23677909, PMID:23748201, PMID:24297365, PMID:24759409, PMID:25401298, PMID:25741868, PMID:26467025, PMID:28155872, PMID:28492532 NCBI chr 4:29,638,280...29,693,151
Ensembl chr 4:29,639,154...29,691,928
JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Myoclonic dystonia ClinVar PMID:23677909, PMID:28492532 NCBI chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
JBrowse link
G Drd2 dopamine receptor D2 ISO ClinVar Annotator: match by OMIM:159900 ClinVar PMID:10220438, PMID:10716258, PMID:12402271 NCBI chr 8:53,678,777...53,743,643
Ensembl chr 8:53,678,777...53,743,642
JBrowse link
G Kctd17 potassium channel tetramerization domain containing 17 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:119,647,301...119,658,148
Ensembl chr 7:119,647,375...119,658,148
JBrowse link
G Sgce sarcoglycan, epsilon ISO ClinVar Annotator: match by term: Myoclonic dystonia
ClinVar Annotator: match by OMIM:159900
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:2367709, PMID:10220438, PMID:10716258, PMID:11022010, PMID:11523564, PMID:11528394, PMID:12391338, PMID:12391355, PMID:12402271, PMID:12743249, PMID:12821748, PMID:12874409, PMID:15079037, PMID:15389977, PMID:15728306, PMID:16227522, PMID:16240355, PMID:17101905, PMID:17296918, PMID:17853490, PMID:18175340, PMID:18205193, PMID:18349702, PMID:18355305, PMID:18362280, PMID:19117362, PMID:22026499, PMID:22259621, PMID:23365103, PMID:23677909, PMID:23748201, PMID:24297365, PMID:24759409, PMID:25401298, PMID:25741868, PMID:26467025, PMID:28155872, PMID:28492532 NCBI chr 4:29,726,140...29,769,902
Ensembl chr 4:29,726,146...29,778,039
JBrowse link
myoclonic dystonia 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sgce sarcoglycan, epsilon ISS OMIM:159900 MouseDO NCBI chr 4:29,726,140...29,769,902
Ensembl chr 4:29,726,146...29,778,039
JBrowse link
myoclonic dystonia 26 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kctd17 potassium channel tetramerization domain containing 17 ISO ClinVar Annotator: match by term: Dystonia 26, myoclonic ClinVar
OMIM
PMID:25741868, PMID:25983243, PMID:28492532 NCBI chr 7:119,647,301...119,658,148
Ensembl chr 7:119,647,375...119,658,148
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
        Neurologic Manifestations 4137
          Dyskinesias 867
            dystonia 161
              myoclonic dystonia 5
                myoclonic dystonia 11 1
                myoclonic dystonia 15 0
                myoclonic dystonia 26 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          brain disease 8330
            movement disease 1156
              Dyskinesias 867
                dystonia 161
                  myoclonic dystonia 5
                    myoclonic dystonia 11 1
                    myoclonic dystonia 15 0
                    myoclonic dystonia 26 1
paths to the root

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