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Disease core ontology applied to Rare Diseases
Last uploaded:
February 7, 2014
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| Preferred Name | Autosomal dominant dopa-responsive dystonia | |
| Synonyms |
Hereditary progressive dystonia with marked diurnal fluctuation HPD with marked diurnal fluctuation DYT5a Autosomal dominant Segawa syndrome |
|
| ID |
http://www.limics.org/hrdo/rdfns#pat_id_13825 |
|
| ageOfOnset |
Neonatal/infancy
|
|
| altLabel |
Hereditary progressive dystonia with marked diurnal fluctuation HPD with marked diurnal fluctuation DYT5a Autosomal dominant Segawa syndrome
|
|
| id_Medline |
neant
|
|
| id_MIM |
128230
|
|
| id_OMS |
G24.1
|
|
| id_Orpha |
98808
|
|
| inheritance |
Autosomal dominant
|
|
| patType |
disease
|
|
| prefixIRI |
hrdo:pat_id_13825
|
|
| prefLabel |
Autosomal dominant dopa-responsive dystonia
|
|
| subClassOf |
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