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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


show annotations for term's descendants           Sort by:
dystonia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc2a1 solute carrier family 2 member 1 susceptibility 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
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:8808284 PMID:9536098 PMID:10980529 PMID:11076005 PMID:11477212 More... RGD:12879478 NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21108
    disease of anatomical entity 18147
      musculoskeletal system disease 8203
        muscular disease 2117
          Muscle Spasticity 120
            dystonia 9 1
Path 2
Term Annotations click to browse term
  disease 21108
    disease of anatomical entity 18147
      nervous system disease 13987
        peripheral nervous system disease 4070
          neuropathy 3852
            neuromuscular disease 3029
              muscular disease 2117
                Muscle Spasticity 120
                  dystonia 9 1
paths to the root