loading...| Preferred Name |
Dystonia, Dopa-responsive |
|
| Synonyms |
Dystonia, Dopa-responsive, autosomal dominant |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C538007 |
|
| altLabel |
Dystonia, Dopa-responsive, autosomal dominant Dopa-responsive dystonia, autosomal dominant Segawa syndrome, autosomal dominant Dopa-Responsive Dystonia Dystonia 5 Dystonia, progressive, with diurnal variation Hereditary Progressive Dystonia with Marked Diurnal Fluctuation Dystonia-Parkinsonism with diurnal fluctuation |
|
| cui |
C1851920 |
|
| HM |
D020821 |
|
| Inverse of RB |
0 |
|
| Mapped to | ||
| MDA |
20100825 |
|
| MeSH Frequency |
118 |
|
| MMR |
20150818 |
|
| notation |
C538007 |
|
| prefLabel |
Dystonia, Dopa-responsive |
|
| SC |
3 |
|
| Scope Statement |
A hereditary DYSTONIA where symptoms similar to those of PARKINSON DISEASE arise in early childhood; it responds favorably to treatment with LEVODOPA. Germline mutations in the GCH1 gene have been identified. OMIM: 128230 |
|
| TERMUI |
T744445 T841298 T744446 T744447 T841297 T744443 T744439 T744444 T744441 |
|
| TH |
OMIM (2013) GHR (2014) ORD (2010) |
|
| tui |
T047 |