loading...| Preferred Name |
Paroxysmal nonkinesigenic dyskinesia |
|
| Synonyms |
Familial paroxysmal choreoathetosis |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C537181 |
|
| altLabel |
Familial paroxysmal choreoathetosis Mount-Reback syndrome Paroxysmal dystonic choreoathetosis Choreoathetosis familial paroxysmal Dystonia 8 Paroxysmal Nonkinesigenic Dyskinesia 1 Nonkinesigenic choreoathetosis Choreoathetosis, Familial Paroxysmal Choreoathetosis, Nonkinesigenic Familial Paroxysmal Nonkinesigenic Dyskinesia |
|
| cui |
C4551506 |
|
| HM |
D002819 |
|
| Inverse of RB |
0 |
|
| Mapped to | ||
| MDA |
20101113 |
|
| MeSH Frequency |
32 |
|
| MMR |
20150818 |
|
| notation |
C537181 |
|
| prefLabel |
Paroxysmal nonkinesigenic dyskinesia |
|
| SC |
3 |
|
| Scope Statement |
A hereditary autosomal dominant disorder characterized by episodes of involuntary movements involving the extremities, neck, trunk, or face. Onset is usually in infancy or childhood and episodes may be precipitated by alcohol, caffeine, fatigue, or stress. Mutations in the PNKD gene have been identified. OMIM: 118800 |
|
| TERMUI |
T741728 T741733 T809258 T741734 T741735 T741730 T809257 T809261 T841417 T741738 T741732 |
|
| TH |
OMIM (2013) ORD (2014) OMIM (2014) GHR (2014) ORD (2010) |
|
| tui |
T047 |