ONTOLOGY REPORT - ANNOTATIONS


Term:myoclonic dystonia 11
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Accession:DOID:0090034 term browser browse the term
Definition:A myoclonic dystonia characterized by autosomal dominant inheritance and association with psychiatric disorder that has_material_basis_in heterozygous mutation in the SGCE gene on chromosome 7q21. (DO)
Synonyms:exact_synonym: DYT11;   dystonia 11
 primary_id: RDO:9004017
 xref: ORDO:36899
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myoclonic dystonia 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sgce sarcoglycan, epsilon JBrowse link 4 29,726,140 29,769,902 RGD:13592920

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Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7096
        genetic disease 6457
          myoclonic dystonia 11 1
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14092
      nervous system disease 9154
        central nervous system disease 6950
          brain disease 6456
            movement disease 1006
              Dyskinesias 718
                dystonia 80
                  myoclonic dystonia 5
                    myoclonic dystonia 11 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.