loading...| 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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| database_cross_reference |
GARD:12144 Orphanet:255 NCIT:C116719 MESH:C538007 SCTID:230332007 |
|
| 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 |
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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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| IAO_0000233 | ||
| id |
MONDO:0016812 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare http://purl.obolibrary.org/obo/mondo#gard_rare http://purl.obolibrary.org/obo/mondo#disease_grouping http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders |
|
| label |
dopa-responsive dystonia |
|
| notation |
MONDO:0016812 |
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| preferred label |
dopa-responsive dystonia |
|
| prefLabel |
dopa-responsive dystonia |
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| subClassOf |