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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
 xref: MESH:C564288;   MONDO:0012805;   OMIM:612126;   ORDO:98811


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Childhood onset GLUT1 deficiency syndrome 2 | ClinVar Annotator: match by term: GLUT1 deficiency syndrome 2 | ClinVar Annotator: match by term: PAROXYSMAL EXERTION-INDUCED DYSTONIA WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA | ClinVar Annotator: match by term: Paroxysmal exercise-induced dystonia		 CTD
ClinVar
OMIM		 PMID:2344855 PMID:9462754 PMID:9536098 PMID:10227690 PMID:10980529 More... 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 18976
    Nutritional and Metabolic Diseases 8246
      disease of metabolism 8246
        inherited metabolic disorder 6256
          carbohydrate metabolic disorder 3309
            childhood-onset GLUT1 deficiency syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        central nervous system disease 12429
          brain disease 11666
            movement disease 2584
              Dyskinesias 2197
                dystonia 435
                  childhood-onset GLUT1 deficiency syndrome 2 1
paths to the root