Dopa-Responsive Dystonia
Disease ID: disease_node_14347
Connections displayed (default: 10).
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| Dbxref | ICD10CM:G24.1, MIM:128230, ORDO:98808 |
|---|---|
| Subclassof | DOID_0050736, DOID_543, DOID_0050737 |
| Data Source | DOID |
| Synonyms | Autosomal dominant Segawa syndrome, DOPA-RESPONSIVE DYSTONIA, AUTOSOMAL DOMINANT, DYSTONIA, DOPA-RESPONSIVE, AUTOSOMAL DOMINANT, DYSTONIA-PARKINSONISM WITH DIURNAL FLUCTUATION, GTPCH1-deficient DRD, GTPCH1-deficient dopa-responsive dystonia, HPD with marked diurnal fluctuation, Hereditary progressive dystonia with marked diurnal fluctuation, dystonia 5 |
| Doid Label | dopa-responsive dystonia |
| Doid Description | A dystonia characterized by generalized dystonia, diurnal fluctuation of symptoms, and a dramatic therapeutic response to L-dopa that has_material_basis_in heterozygous mutation in the GCH1 gene on chromosome 14q13. |
| Has Material Basis In | GENO_0000147, GENO_0000148 |
| Disease Node Id | disease_node_14347 |
| Doid Id | DOID_0090043 |
| Label | Dopa-Responsive Dystonia |
| Doid Alternate Ids | DOID_0060963 |
- Outgoing r'ship
SUBCLASS_OFto/from Dystonia(ID:disease_node_2684) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)