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ONTOLOGY REPORT - ANNOTATIONS


Term:dystonia 9
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Accession:DOID:0090044 term browser browse the term
Definition:A dystonia characterized by autosomal dominant inheritance of paroxysmal choreoathetosis and progressive spastic paraplegia, episodes are often precipitated by alcohol, fatigue, or emotional stress that has_material_basis_in heterozygous mutation in the SLC2A1 gene on chromosome 1p34. (DO)
Synonyms:exact_synonym: CSE CHOREOATHETOSIS, PAROXYSMAL, WITH EPISODIC ATAXIA;   Choreoathetosis, Kinesigenic, with Episodic Ataxia And Spasticity;   Choreoathetosis/Spasticity, Episodic;   DYT9;   paroxysmal choreoathetosis with episodic ataxia
 primary_id: MESH:C563401
 alt_id: OMIM:601042;   RDO:0012666
 xref: ORDO:53583
For additional species annotation, visit the Alliance of Genome Resources.


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dystonia 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc2a1 solute carrier family 2 member 1 JBrowse link 5 138,154,677 138,182,897 RGD:7240710
RGD:8554872
RGD:12879478

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  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          dystonia 9 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
                  dystonia 9 1
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