Link to this page
Experimental Factor Ontology
| Preferred Name | dystonia 5 | |
| Synonyms |
Dopa-responsive dystonia; Segawa syndrome AD dystonia, DOPA-responsive DRD Dopa-responsive dystonia, autosomal dominant GTP cyclohydrolase 1-deficient dopa-responsive dystonia dystonia type 5 dystonia, progressive, with diurnal variation dystonia-Parkinsonism with diurnal fluctuation dystonia, Dopa-responsive, autosomal dominant Segawa Syndrome dystonia, DOPA-responsive, with or without hyperphenylalaninemia Segawa syndrome, autosomal dominant DYT-GCH1 dystonia 5 |
|
| Definitions |
An autosomal dominant dopa-responsive dystonia in which the cause of the disease is a variation in the GCH1 gene. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0007495 |
|
| database_cross_reference |
NANDO:1200516 MEDGEN:342121 DOID:0090043 OMIM:128230 SCTID:715768000 UMLS:C1851920 GARD:9817 NORD:1702
|
|
| definition |
An autosomal dominant dopa-responsive dystonia in which the cause of the disease is a variation in the GCH1 gene.
|
|
| disease responds to | ||
| exactMatch |
http://identifiers.org/snomedct/715768000 http://linkedlifedata.com/resource/umls/id/C1851920 |
|
| has_exact_synonym |
Dopa-responsive dystonia, autosomal dominant GTP cyclohydrolase 1-deficient dopa-responsive dystonia dystonia type 5 dystonia, progressive, with diurnal variation dystonia-Parkinsonism with diurnal fluctuation dystonia, Dopa-responsive, autosomal dominant Segawa Syndrome dystonia, DOPA-responsive, with or without hyperphenylalaninemia Segawa syndrome, autosomal dominant DYT-GCH1 dystonia 5
|
|
| has_related_synonym |
Dopa-responsive dystonia; Segawa syndrome AD dystonia, DOPA-responsive DRD
|
|
| IAO_0000233 | ||
| id |
MONDO:0007495
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar |
|
| label |
dystonia 5
|
|
| notation |
MONDO:0007495
|
|
| preferred label |
dystonia 5
|
|
| prefLabel |
dystonia 5
|
|
| subClassOf |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |