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Human Health Exposure Analysis Resource
Last uploaded:
July 19, 2024
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| Preferred Name | dopa-responsive dystonia | |
| Synonyms |
GTPCH1-deficient DRD DYSTONIA, DOPA-RESPONSIVE, AUTOSOMAL DOMINANT Hereditary progressive dystonia with marked diurnal fluctuation HPD with marked diurnal fluctuation DOPA-RESPONSIVE DYSTONIA, AUTOSOMAL DOMINANT Autosomal dominant Segawa syndrome DYSTONIA-PARKINSONISM WITH DIURNAL FLUCTUATION GTPCH1-deficient dopa-responsive dystonia dystonia 5 |
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| Definitions |
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. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0090043 |
|
| alternative label |
GTPCH1-deficient DRD DYSTONIA, DOPA-RESPONSIVE, AUTOSOMAL DOMINANT Hereditary progressive dystonia with marked diurnal fluctuation HPD with marked diurnal fluctuation DOPA-RESPONSIVE DYSTONIA, AUTOSOMAL DOMINANT Autosomal dominant Segawa syndrome DYSTONIA-PARKINSONISM WITH DIURNAL FLUCTUATION GTPCH1-deficient dopa-responsive dystonia dystonia 5
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|
| database_cross_reference |
ICD10CM:G24.1 MIM:128230 ORDO:98808
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|
| 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.
|
|
| has exact synonym |
GTPCH1-deficient DRD DYSTONIA, DOPA-RESPONSIVE, AUTOSOMAL DOMINANT Hereditary progressive dystonia with marked diurnal fluctuation HPD with marked diurnal fluctuation DOPA-RESPONSIVE DYSTONIA, AUTOSOMAL DOMINANT Autosomal dominant Segawa syndrome DYSTONIA-PARKINSONISM WITH DIURNAL FLUCTUATION GTPCH1-deficient dopa-responsive dystonia dystonia 5
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|
| has material basis in | ||
| has_alternative_id |
DOID:0060963
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|
| has_obo_namespace |
disease_ontology
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|
| id |
DOID:0090043
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|
| in_subset | ||
| label |
dopa-responsive dystonia
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|
| notation |
DOID:0090043
|
|
| note |
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.
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|
| preferred label |
dopa-responsive dystonia
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|
| prefLabel |
dopa-responsive dystonia
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|
| subClassOf |
http://purl.obolibrary.org/obo/DOID_543 |
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