Torsion Dystonia 6
Disease ID: disease_node_17280
Connections displayed (default: 10).
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| Dbxref | ICD10CM:G24.1, MIM:602629, ORDO:98806 |
|---|---|
| Subclassof | DOID_0050736, DOID_0050835 |
| Data Source | DOID |
| Doid Label | torsion dystonia 6 |
| Doid Description | A generalized dystonia that is characterized by early-onset generalised dystonia typically involing the craniocervical region with spasmodic dysphonia that has_material_basis_in autosomal domit inheritance of heterozygous mutation in the THAP domain containing 1 gene (THAP1) on chromosome 8p11. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_17280 |
| Doid Id | DOID_0090039 |
| Label | Torsion Dystonia 6 |
- Outgoing r'ship
SUBCLASS_OFto/from Dystonic Disorders(ID:disease_node_10780) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Dystonia Musculorum Deformans(ID:disease_node_2686) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)