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
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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 14926
    Developmental Diseases 7774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7096
        genetic disease 6457
          dystonia 24 1
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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
                  focal dystonia 10
                    dystonia 24 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.