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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:2344855 PMID:9462754 PMID:10980529 PMID:11076005 PMID:11477212 PMID:12325075 PMID:14605501 PMID:16385454 PMID:16949238 PMID:17052934 PMID:18403583 PMID:18414213 PMID:18451999 PMID:18606970 PMID:19630075 PMID:19798636 PMID:19901175 PMID:19996082 PMID:20129935 PMID:20301603 PMID:20417043 PMID:21069159 PMID:21135204 PMID:21555602 PMID:21832227 PMID:23106342 PMID:23448551 PMID:24847886 PMID:25167861 PMID:25326635 PMID:25487684 PMID:25564316 PMID:25741868 PMID:26193382 PMID:26216499 PMID:26598494 PMID:26615598 PMID:27351150 PMID:28492532 PMID:30588498 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 17129
    Nutritional and Metabolic Diseases 5514
      disease of metabolism 5514
        inherited metabolic disorder 2607
          carbohydrate metabolic disorder 524
            childhood onset GLUT1 deficiency syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      nervous system disease 12074
        central nervous system disease 10353
          brain disease 9712
            movement disease 1353
              Dyskinesias 1020
                dystonia 187
                  childhood onset GLUT1 deficiency syndrome 2 1
paths to the root