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Health and Social Person-centric Ontology
| Preferred Name | dystonia 5 | |
| Synonyms |
dystonia, Dopa-responsive, autosomal dominant DRD dystonia, DOPA-responsive Dopa-responsive dystonia, autosomal dominant Segawa syndrome, autosomal dominant dystonia, progressive, with diurnal variation autosomal dominant dopa-responsive dystonia Dopa-responsive dystonia; Segawa syndrome AD dystonia-Parkinsonism with diurnal fluctuation DYT5a HPD with marked diurnal fluctuation GTP cyclohydrolase 1-deficient dopa-responsive dystonia dystonia, DOPA-responsive, with or without hyperphenylalaninemia autosomal dominant Segawa syndrome dystonia type 5 hereditary progressive dystonia with marked diurnal fluctuation dystonia 5 DYT-GCH1 GTPCH1-deficient DRD GTPCH1-deficient dopa-responsive dystonia |
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| Definitions |
Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0007495 |
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| database_cross_reference |
Orphanet:98808 SCTID:715768000 NORD:1702 GARD:9817 UMLS:C1851920 DOID:0090043 OMIM:128230
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| definition |
Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.
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| exactMatch |
http://identifiers.org/snomedct/715768000 http://linkedlifedata.com/resource/umls/id/C1851920 |
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| has_exact_synonym |
DYT5a HPD with marked diurnal fluctuation GTP cyclohydrolase 1-deficient dopa-responsive dystonia dystonia, DOPA-responsive, with or without hyperphenylalaninemia autosomal dominant Segawa syndrome dystonia type 5 hereditary progressive dystonia with marked diurnal fluctuation dystonia 5 DYT-GCH1 GTPCH1-deficient DRD GTPCH1-deficient dopa-responsive dystonia
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| has_related_synonym |
dystonia, Dopa-responsive, autosomal dominant DRD dystonia, DOPA-responsive Dopa-responsive dystonia, autosomal dominant Segawa syndrome, autosomal dominant dystonia, progressive, with diurnal variation autosomal dominant dopa-responsive dystonia Dopa-responsive dystonia; Segawa syndrome AD dystonia-Parkinsonism with diurnal fluctuation
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| IAO_0000233 | ||
| id |
MONDO:0007495
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| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disease http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare |
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| label |
dystonia 5
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| notation |
MONDO:0007495
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| preferred label |
dystonia 5
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| prefLabel |
dystonia 5
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0100184 |
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