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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:
Echinobase Genes : slc2a1
MIM:612126 - glut1 deficiency syndrome 2; glut1ds2 |
Other Model Organisms: Alliance, 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)