Torsion Dystonia 2
Disease ID: disease_node_14350
Connections displayed (default: 10).
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| Dbxref | ICD10CM:G24.1, MIM:224500, ORDO:99657 |
|---|---|
| Subclassof | DOID_543, DOID_0050737 |
| Data Source | DOID |
| Doid Label | torsion dystonia 2 |
| Doid Description | A dystonia that initially involves the distal limbs and later involves the neck, orofacial, and craniocervical regions, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hippocalcin (HPCA) gene on chromosome 1p35. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_14350 |
| Doid Id | DOID_0090038 |
| Label | Torsion Dystonia 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Dystonia(ID:disease_node_2684) (Disease)