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DO Term : dystonia 9 [DOID:0090044] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • ICD10CM:G24.8,
  • OMIM:601042,
  • ORDO:53583,
  • UMLS_CUI:C1832855,
  • 601042,
  • paroxysmal choreoathetosis with spasticity
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