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Experimental Factor Ontology
| Preferred Name | dopa-responsive dystonia | |
| Synonyms |
DYT-TH (subtype) DYT-GCH1 (subtype) DYT-SPR (subtype) DYT5 hereditary progressive dystonia with diurnal fluctuation DYT5 dystonia HPD with diurnal fluctuation Segawa's disease 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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| database_cross_reference |
NANDO:1200516 Orphanet:255 icd11.foundation:1534901505 NANDO:2200885 MESH:C538007 SCTID:230332007 NCIT:C116719 GARD:12144
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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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| exactMatch |
http://purl.obolibrary.org/obo/NCIT_C116719 http://purl.obolibrary.org/obo/Orphanet_255 http://identifiers.org/mesh/C538007 http://identifiers.org/snomedct/230332007 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1534901505 |
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| has_exact_synonym |
hereditary progressive dystonia with diurnal fluctuation DYT5 dystonia HPD with diurnal fluctuation Segawa's disease dopa-responsive dystonia
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| has_related_synonym |
DYT-TH (subtype) DYT-GCH1 (subtype) DYT-SPR (subtype) DYT5
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| IAO_0000233 | ||
| id |
MONDO:0016812
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping |
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| label |
dopa-responsive dystonia
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| notation |
MONDO:0016812
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| preferred label |
dopa-responsive dystonia
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| prefLabel |
dopa-responsive dystonia
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| subClassOf |
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