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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 that is characterized by paroxysmal choreoathetosis and progressive spastic paraplegia, with episodes often precipitated by alcohol, fatigue, or emotional stress, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34. (DO)
Synonyms:exact_synonym: CSE CHOREOATHETOSIS, PAROXYSMAL, WITH EPISODIC ATAXIA;   Choreoathetosis, Kinesigenic, with Episodic Ataxia And Spasticity;   DYT9;   episodic choreoathetosis/spasticity;   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:12879478
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      musculoskeletal system disease 4252
        muscular disease 941
          Muscle Spasticity 28
            dystonia 9 1
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      nervous system disease 10196
        peripheral nervous system disease 2111
          neuropathy 1933
            neuromuscular disease 1504
              muscular disease 941
                Muscle Spasticity 28
                  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.