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DO Term : glucose transporter type 1 deficiency syndrome 2 [DOID:0090045] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A dystonia characterized by paroxysmal exercise-induced dyskinesia involving transient abnormal involuntary movements in the exercised limbs that has_material_basis_in heterozygous mutation in the SLC2A1 gene on chromosome 1p34.
  • synonyms:
  • OMIM:612126,
  • GLUT1DS2,
  • PED,
  • UMLS_CUI:C1842534,
  • ORDO:98811,
  • ICD10CM:G24.8,
  • dystonia 18,
  • childhood-onset GLUT1 deficiency syndrome 2,
  • MESH:C564288,
  • GARD:10541,
  • 612126,
  • paroxysmal exertion-induced dyskinesia,
  • GLUT1 deficiency syndrome 2,
  • DYT18,
  • paroxysmal exercise-induced dyskinesia
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