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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 14924
    Developmental Diseases 7770
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7092
        genetic disease 6457
          dystonia 9 1
Path 2
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      nervous system disease 9141
        peripheral nervous system disease 2004
          neuropathy 1820
            neuromuscular disease 1392
              muscular disease 887
                Muscle Spasticity 26
                  dystonia 9 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.