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Disease Ontology Browser
dystonia 9 (DOID:0090044)
Alliance: disease page
Synonyms: paroxysmal choreoathetosis with spasticity
Alt IDs: OMIM:601042, ICD10CM:G24.8, ORDO:53583, UMLS_CUI:C1832855
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory