WormBase Tree Display for DO_term: DOID:0060730
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| DOID:0060730 | Name | torsion dystonia 1 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A generalized dystomia characterized by autosomal dominant inheritance of dystonia usually presenting initially as focal, typically in the limbs, but often generalizes with age that has_material_basis_in heterozygous mutation in the TOR1A gene on chromosome 9q34. | ||||
| Synonym | Exact | dystonia musculorum deformans | |||
| Parent | Is_a | DOID:0050736 | |||
| DOID:0050835 | |||||
| DB_info | Database | OMIM | disease | 128100 | |
| Disease_model_annotation | WBDOannot00000219 | ||||
| Attribute_of | Gene_by_biology | WBGene00003870 | |||
| Gene_by_orthology | WBGene00003870 | ||||
| WBGene00006597 | |||||
| WBGene00006598 |
