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Summary Literature (0)
DOID:0090044 - dystonia 9

Disease Ontology Definition:A dystonia that is characterized by paroxysmal choreoathetosis and progressive spastic paraplegia, with episodes often precipitated by alcohol, fatigue, or emotional stress, 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: paroxysmal choreoathetosis with spasticity

Xenbase Genes : slc2a1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010983 - dystonia 9


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), glucose transporter type 1 deficiency syndrome (is_a)