loading...| Preferred Name |
Dystonia musculorum deformans type 1 |
|
| Synonyms |
Dystonia Musculorum Deformans 1 |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C538005 |
|
| altLabel |
Dystonia Musculorum Deformans 1 Early-Onset Torsion Dystonia Dyt1 Torsion dystonia 1, autosomal dominant Oppenheim Dystonia Early onset torsion dystonia Early-Onset Primary Dystonia Dystonia 1, Torsion, Autosomal Dominant Early-Onset Generalized Torsion Dystonia Oppenheim's Dystonia Primary Torsion Dystonia |
|
| cui |
C3888090 |
|
| HM |
D004422 |
|
| Inverse of RB |
0 |
|
| Mapped to | ||
| MDA |
20100825 |
|
| MeSH Frequency |
71 |
|
| MMR |
20150818 |
|
| notation |
C538005 |
|
| prefLabel |
Dystonia musculorum deformans type 1 |
|
| SC |
3 |
|
| Scope Statement |
A hereditary autosomal dominant form of dystonia musculorum deformans. Onset typically occurs in middle to late childhood and the disorder has a high incidence among Ashkenazi Jewish people, though PENETRANCE is incomplete and there is wide variablity in the severity and number of symptoms that may be present. Mutations in the DYT1 gene have been identified. OMIM: 128100 |
|
| TERMUI |
T841317 T806115 T744432 T806114 T841318 T744429 T841320 T841319 T841316 T806116 T744430 T841315 |
|
| TH |
OMIM (2013) GHR (2014) ORD (2010) |
|
| tui |
T047 |