Olivopontocerebellar Atrophies
Disease ID: disease_node_5684
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| Dbxref | MESH:D009849, NCI:C84947, SNOMEDCT_US_2023_03_01:67761004, UMLS_CUI:C0028968 |
|---|---|
| Subclassof | DOID_1289 |
| Data Source | DOID, MESH |
| Synonyms | Dejerine-Thomas syndrome, Thomas' syndrome, WADIA-SWAMI SYNDROME |
| Mesh Id | D009849 |
| Mesh Label | Olivopontocerebellar Atrophies |
| Mesh Subclassof | D019578, D013132 |
| Doid Label | olivopontocerebellar atrophy |
| Doid Description | A neurodegenerative disease that is characterized by progressive cerebellar ataxia, leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs of paralysis or weakness and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in degeneration of neuron in the cerebellum, pons and inferior olives. OMIM mapping confirmed by DO. [SN]. |
| Disease Node Id | disease_node_5684 |
| Doid Id | DOID_14784 |
| Label | Olivopontocerebellar Atrophies |
| Doid Alternate Ids | DOID_12708 |
- Outgoing r'ship
SUBCLASS_OFto/from Neurodegenerative Diseases(ID:disease_node_9989) (Disease)