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DO Term : dystonia 16 [DOID:0090048] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A multifocal dystonia that is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism, and that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the protein activator of interferon induced protein kinase EIF2AK2 (PRKRA) gene on chromosome 2q31.
  • synonyms:
  • ICD10CM:G24.1,
  • 612067,
  • ORDO:210571,
  • OMIM:612067,
  • MESH:C567430,
  • GARD:10539
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