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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          myoclonic dystonia 11 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            movement disease 989
              Dystonic Disorders 80
                dystonia 74
                  myoclonic dystonia 5
                    myoclonic dystonia 11 1
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