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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: MIM:159900
 xref: NCI:C201596;   ORDO:36899


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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 7:86,459,449...86,520,559
Ensembl chr 7:100,053,248...100,096,887 		JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Myoclonic dystonia 11 ClinVar PMID:12821748 PMID:15389977 PMID:17853490 PMID:23677909 PMID:24297365 More... NCBI chr 7:86,344,657...86,381,282
Ensembl chr 7:99,935,185...99,971,803 		JBrowse link
G DRD2 dopamine receptor D2 ISO ClinVar Annotator: match by term: Myoclonic dystonia 11 ClinVar PMID:10220438 PMID:10716258 PMID:12402271 NCBI chr11:108,289,838...108,357,174
Ensembl chr11:112,132,703...112,198,935 		JBrowse link
G SGCE sarcoglycan epsilon ISO ClinVar Annotator: match by term: Myoclonic dystonia 11 OMIM
ClinVar		 PMID:2367709 PMID:9536098 PMID:9750929 PMID:10220438 PMID:10716258 More... NCBI chr 7:86,535,215...86,606,114 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15753
    disease of anatomical entity 15427
      nervous system disease 13487
        Neurologic Manifestations 9940
          Dyskinesias 2174
            dystonia 488
              myoclonic dystonia 54
                myoclonic dystonia 11 4
Path 2
Term Annotations click to browse term
  disease 15753
    disease of anatomical entity 15427
      nervous system disease 13487
        central nervous system disease 12113
          brain disease 11384
            movement disease 2552
              Dyskinesias 2174
                dystonia 488
                  myoclonic dystonia 54
                    myoclonic dystonia 11 4
paths to the root