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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:childhood onset GLUT1 deficiency syndrome 2
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Accession:DOID:0090045 term browser browse the term
Definition:A dystonia that is characterized by paroxysmal exercise-induced dyskinesia involving transient abnormal involuntary movements in the exercised limbs, 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: DYSTONIA 18;   DYT18;   GLUT1 Deficiency Syndrome 2;   GLUT1DS2;   PAROXYSMAL EXERCISE-INDUCED DYSKINESIA WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA;   PAROXYSMAL EXERTION-INDUCED DYSTONIA WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA;   PED WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA;   Paroxysmal Exercise-Induced Dystonia;   Paroxysmal Exertion-Induced Dyskinesia
 primary_id: MESH:C564288
 alt_id: OMIM:612126;   RDO:0013307;   RDO:0015800
 xref: ORDO:98811
For additional species annotation, visit the Alliance of Genome Resources.



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childhood onset GLUT1 deficiency syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Childhood onset GLUT1 deficiency syndrome 2 | ClinVar Annotator: match by term: Dystonia 18 | ClinVar Annotator: match by term: GLUT1 deficiency syndrome 2 | ClinVar Annotator: match by term: Paroxysmal exercise-induced dystonia OMIM
ClinVar
PMID:2344855 PMID:9462754 PMID:10227690 PMID:10980529 PMID:11477212 More... NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    Nutritional and Metabolic Diseases 6757
      disease of metabolism 6757
        inherited metabolic disorder 4663
          carbohydrate metabolic disorder 2561
            childhood onset GLUT1 deficiency syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      nervous system disease 13174
        central nervous system disease 11297
          brain disease 10584
            movement disease 1738
              Dyskinesias 1393
                dystonia 270
                  childhood onset GLUT1 deficiency syndrome 2 1
paths to the root