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Digital medicine Outcomes Value Set (DOVeS) Ontology
Last uploaded:
December 13, 2023
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| Preferred Name | dopa-responsive dystonia | |
| Synonyms |
DYT-TH (subtype) DYT-SPR (subtype) DYT-GCH1 (subtype) DYT5 DYT5 dystonia Segawa's disease HPD with diurnal fluctuation hereditary progressive dystonia with diurnal fluctuation dopa-responsive dystonia |
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| Definitions |
Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0016812 |
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| altLabel |
DYT-TH (subtype) DYT-SPR (subtype) DYT-GCH1 (subtype) DYT5 DYT5 dystonia Segawa's disease HPD with diurnal fluctuation hereditary progressive dystonia with diurnal fluctuation dopa-responsive dystonia
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| definition |
Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency.
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| has_exact_synonym |
DYT5 dystonia Segawa's disease HPD with diurnal fluctuation hereditary progressive dystonia with diurnal fluctuation dopa-responsive dystonia
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| has_related_synonym |
DYT-TH (subtype) DYT-SPR (subtype) DYT-GCH1 (subtype) DYT5
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| label |
dopa-responsive dystonia
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| prefixIRI |
MONDO:0016812
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| prefLabel |
dopa-responsive dystonia
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| textual definition |
Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency.
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| subClassOf |
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