Dystonia 31
Disease ID: disease_node_17272
Connections displayed (default: 10).
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| Dbxref | MIM:619565 |
|---|---|
| Subclassof | DOID_543, DOID_0050737 |
| Data Source | DOID |
| Synonyms | DYT31, ZECH-BOESCH SYNDROME |
| Doid Label | dystonia 31 |
| Doid Description | A dystonia characterized by age at onset ranges from childhood to young adulthood with involuntary muscle twisting movements and postural abnormalities affecting the upper and lower limbs, neck, face, and trunk. Some patients may have orofacial dyskinesia resulting in articulation and swallowing difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the AOPEP gene on chromosome 9q22. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17272 |
| Doid Id | DOID_0060938 |
| Label | Dystonia 31 |
- 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)