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ONTOLOGY REPORT - ANNOTATIONS


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
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childhood onset GLUT1 deficiency syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc2a1 solute carrier family 2 member 1 JBrowse link 5 138,154,677 138,182,897 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15619
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        inherited metabolic disorder 1864
          carbohydrate metabolic disorder 320
            childhood onset GLUT1 deficiency syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          brain disease 7561
            movement disease 1000
              Dyskinesias 710
                dystonia 81
                  childhood onset GLUT1 deficiency syndrome 2 1
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