Episodic Kinesigenic Dyskinesia 1
Disease ID: disease_node_14356
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| Dbxref | GARD:8721, ICD10CM:G24.8, MIM:128200, ORDO:98809 |
|---|---|
| Subclassof | DOID_0050736, DOID_543 |
| Data Source | DOID |
| Synonyms | Paroxysmal kinesigenic choreoathetosis |
| Doid Label | episodic kinesigenic dyskinesia 1 |
| Doid Description | A dystonia characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal domit inheritance of heterozygous mutation in the proline-rich transmembrane protein 2 gene (PRRT2) on chromosome 16p11. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_14356 |
| Doid Id | DOID_0090053 |
| Label | Episodic Kinesigenic Dyskinesia 1 |
- 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)