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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: GLUT1 deficiency syndrome 2
ClinVar Annotator: match by term: Dystonia 18
ClinVar Annotator: match by term: GLUT1 deficiency syndrome 2, childhood onset
OMIM
ClinVar
PMID:1714544, PMID:9462754, PMID:10766892, PMID:10980529, PMID:11076005, PMID:11477212, PMID:12325075, PMID:12752470, PMID:14605501, PMID:16949238, PMID:17052934, PMID:18403583, PMID:18414213, PMID:18451999, PMID:18577546, PMID:18606970, PMID:19630075, PMID:19798636, PMID:19901175, PMID:19996082, PMID:20129935, PMID:20221955, PMID:20417043, PMID:20687207, PMID:21069159, PMID:21135204, PMID:21555602, PMID:21791420, PMID:21832227, PMID:22492876, PMID:23106342, PMID:23280796, PMID:23306390, PMID:23443458, PMID:23448551, PMID:24963779, PMID:25326635, PMID:25487684, PMID:25564316, PMID:25741868, PMID:26193382, PMID:26216499, PMID:26304067, PMID:26336901, PMID:26537434, PMID:26598494, PMID:26615598, PMID:27351150, PMID:28492532, PMID:31605543 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 16058
    Nutritional and Metabolic Diseases 4725
      disease of metabolism 4725
        inherited metabolic disorder 2231
          carbohydrate metabolic disorder 387
            childhood onset GLUT1 deficiency syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            movement disease 1159
              Dyskinesias 870
                dystonia 161
                  childhood onset GLUT1 deficiency syndrome 2 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.