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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 11
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Accession:DOID:0090034 term browser browse the term
Definition:A myoclonic dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the epsilon-sarcoglycan gene (SGCE) on chromosome 7q21. (DO)
Synonyms:exact_synonym: DYT11;   dystonia 11
 primary_id: RDO:9004017
 xref: ORDO:36899
For additional species annotation, visit the Alliance of Genome Resources.



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myoclonic dystonia 11 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 11 ClinVar PMID:2367709 PMID:9536098 PMID:9750929 PMID:10220438 PMID:10716258 More... NCBI chr 4:32,658,888...32,739,224
Ensembl chr 4:32,658,748...32,739,202
JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Myoclonic dystonia 11 ClinVar PMID:23677909 PMID:28492532 NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
JBrowse link
G Drd2 dopamine receptor D2 ISO ClinVar Annotator: match by term: Myoclonic dystonia 11 ClinVar PMID:10220438 PMID:10716258 PMID:12402271 NCBI chr 8:49,708,903...49,772,888
Ensembl chr 8:49,708,927...49,772,875
JBrowse link
G Sgce sarcoglycan, epsilon ISS
ISO
OMIM:159900
ClinVar Annotator: match by term: Myoclonic dystonia 11
MouseDO
ClinVar
PMID:2367709 PMID:9536098 PMID:9750929 PMID:10220438 PMID:10716258 More... NCBI chr 4:32,771,477...32,842,238
Ensembl chr 4:32,771,477...32,842,254
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      nervous system disease 12130
        Neurologic Manifestations 5466
          Dyskinesias 1068
            dystonia 190
              myoclonic dystonia 5
                myoclonic dystonia 11 4
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      nervous system disease 12130
        central nervous system disease 10402
          brain disease 9763
            movement disease 1401
              Dyskinesias 1068
                dystonia 190
                  myoclonic dystonia 5
                    myoclonic dystonia 11 4
paths to the root