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Summary Literature (1)
DOID:0090045 - childhood onset GLUT1 deficiency syndrome 2


Disease Ontology 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.

Synonyms:

Xenbase Genes : slc2a1, prrt2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012805 - childhood onset GLUT1 deficiency syndrome 2


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), dystonia (is_a)