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DO Term : dopa-responsive dystonia [DOID:0090043] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A dystonia characterized by generalized dystonia, diurnal fluctuation of symptoms, and a dramatic therapeutic response to L-dopa that has_material_basis_in heterozygous mutation in the GCH1 gene on chromosome 14q13.
  • synonyms:
  • DOPA-RESPONSIVE DYSTONIA, AUTOSOMAL DOMINANT,
  • DYSTONIA-PARKINSONISM WITH DIURNAL FLUCTUATION,
  • Hereditary progressive dystonia with marked diurnal fluctuation,
  • HPD with marked diurnal fluctuation,
  • Autosomal dominant Segawa syndrome,
  • dystonia 5,
  • 128230,
  • GTPCH1-deficient DRD,
  • GTPCH1-deficient dopa-responsive dystonia,
  • OMIM:128230,
  • ICD10CM:G24.1,
  • ORDO:98808,
  • DOID:0060963,
  • DYSTONIA, DOPA-RESPONSIVE, AUTOSOMAL DOMINANT
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