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ONTOLOGY REPORT - ANNOTATIONS


Term:dystonia 24
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Accession:DOID:0090052 term browser browse the term
Definition:A focal dystonia characterized by autosomal dominant inheritance of focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs that has_material_basis_in heterozygous mutation in the ANO3 gene on chromosome 11p14. (DO)
Synonyms:exact_synonym: DYT24
 primary_id: OMIM:615034
 alt_id: RDO:9000279
 xref: ORDO:420485
For additional species annotation, visit the Alliance of Genome Resources.


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dystonia 24 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ano3 anoctamin 3 JBrowse link 3 101,843,516 102,203,368 RGD:7240710
RGD:8554872

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  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          dystonia 24 1
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  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            movement disease 989
              Dyskinesias 702
                dystonia 74
                  focal dystonia 10
                    dystonia 24 1
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