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Mondo Disease Ontology
| Preferred Name | dystonia 5 | |
| Synonyms |
DRD dystonia, DOPA-responsive Dopa-responsive dystonia; Segawa syndrome AD GTP cyclohydrolase 1-deficient dopa-responsive dystonia dystonia, DOPA-responsive, with or without hyperphenylalaninemia dystonia, Dopa-responsive, autosomal dominant dystonia type 5 dystonia 5 DYT-GCH1 Segawa Syndrome Dopa-responsive dystonia, autosomal dominant Segawa syndrome, autosomal dominant dystonia, progressive, with diurnal variation dystonia-Parkinsonism with diurnal fluctuation |
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| Definitions |
An autosomal dominant dopa-responsive dystonia in which the cause of the disease is a variation in the GCH1 gene. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0007495 |
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| database_cross_reference |
NANDO:1200516 SCTID:715768000 NORD:1702 GARD:9817 UMLS:C1851920 MEDGEN:342121 DOID:0090043 OMIM:128230
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|
| definition |
An autosomal dominant dopa-responsive dystonia in which the cause of the disease is a variation in the GCH1 gene.
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| has_exact_synonym |
GTP cyclohydrolase 1-deficient dopa-responsive dystonia dystonia, DOPA-responsive, with or without hyperphenylalaninemia dystonia, Dopa-responsive, autosomal dominant dystonia type 5 dystonia 5 DYT-GCH1 Segawa Syndrome Dopa-responsive dystonia, autosomal dominant Segawa syndrome, autosomal dominant dystonia, progressive, with diurnal variation dystonia-Parkinsonism with diurnal fluctuation
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| has_related_synonym |
DRD dystonia, DOPA-responsive Dopa-responsive dystonia; Segawa syndrome AD
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| IAO_0000233 | ||
| id |
MONDO:0007495
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#rare |
|
| label |
dystonia 5
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|
| notation |
MONDO:0007495
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|
| prefLabel |
dystonia 5
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| skos_exactMatch |
http://identifiers.org/snomedct/715768000 http://linkedlifedata.com/resource/umls/id/C1851920 |
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