FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term dopa-responsive dystonia ID (Ontology) DOID:0090043 (Human Disease)
Definition 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.
Also Known As "Autosomal dominant Segawa syndrome" ; "DOPA-RESPONSIVE DYSTONIA, AUTOSOMAL DOMINANT" ; "dystonia 5" (for all, see Synonyms field below)
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 Genes
 dopa-responsive dystonia       1
 for disease ribbon | dopa-responsive dystonia       1
 model of | dopa-responsive dystonia       1
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal dominant disease___
 |__autosomal recessive disease__|
movement disease                 |
 |__dystonia_____________________|
                                 dopa-responsive dystonia  1 rec.
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Is a autosomal dominant disease
autosomal recessive disease
dystonia
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Synonyms
  • "Autosomal dominant Segawa syndrome" EXACT
    "DOPA-RESPONSIVE DYSTONIA, AUTOSOMAL DOMINANT" EXACT
    "dystonia 5" EXACT
    "DYSTONIA, DOPA-RESPONSIVE, AUTOSOMAL DOMINANT" EXACT
    "DYSTONIA-PARKINSONISM WITH DIURNAL FLUCTUATION" EXACT
    "GTPCH1-deficient dopa-responsive dystonia" EXACT
    "GTPCH1-deficient DRD" EXACT
    "Hereditary progressive dystonia with marked diurnal fluctuation" EXACT
    "HPD with marked diurnal fluctuation" EXACT
Secondary IDs
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ICD10CM:G24.1
MIM:128230
ORDO:98808