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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
olivopontocerebellar atrophy
Summary
- Synonym
-
- Dejerine-Thomas syndrome
- Thomas' syndrome
- WADIA-SWAMI SYNDROME
- Definition
- 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.
- Super Class
- neurodegenerative disease
External Links
- Disease Ontology
- DOID:14784
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O15305 | Phosphomannomutase 2 | |
| P28329 | Choline O-acetyltransferase |
