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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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;   DYT9;   episodic choreoathetosis/spasticity;   kinesigenic choreoathetosis with episodic ataxia and spasticity;   paroxysmal choreoathetosis with episodic ataxia
 primary_id: MESH:C563401
 alt_id: OMIM:601042
 xref: ORDO:53583
For additional species annotation, visit the Alliance of Genome Resources.


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dystonia 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc2a1 solute carrier family 2 member 1 ISO DNA:missense mutation:exon: p.R212C (c.634C>T) (human)
ClinVar Annotator: match by term: CHOREOATHETOSIS, KINESIGENIC, WITH EPISODIC ATAXIA AND SPASTICITY
ClinVar Annotator: match by term: Dystonia 9
OMIM
ClinVar
PMID:8808284 PMID:10980529 PMID:11477212 PMID:12325075 PMID:16217704 PMID:16949238 PMID:17052934 PMID:18414213 PMID:18606970 PMID:19798636 PMID:20417043 PMID:21069159 PMID:21135204 PMID:21555602 PMID:21832227 PMID:23280796 PMID:23340081 PMID:23448551 PMID:25326635 PMID:25487684 PMID:25564316 PMID:25741868 PMID:25914049 PMID:25982116 PMID:26193382 PMID:26467025 PMID:26537434 PMID:28492532, PMID:21832227 RGD:12879478 NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17014
    disease of anatomical entity 16363
      musculoskeletal system disease 6301
        muscular disease 1191
          Muscle Spasticity 55
            dystonia 9 1
Path 2
Term Annotations click to browse term
  disease 17014
    disease of anatomical entity 16363
      nervous system disease 11947
        peripheral nervous system disease 2461
          neuropathy 2260
            neuromuscular disease 1793
              muscular disease 1191
                Muscle Spasticity 55
                  dystonia 9 1
paths to the root