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General Information
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| Term |
olivopontocerebellar atrophy |
ID (Ontology) |
DOID:14784 (Human Disease) |
| 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. |
| Also Known As |
"Dejerine-Thomas syndrome" ; "Thomas' syndrome" ; "WADIA-SWAMI SYNDROME" |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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| Data Class | Field | Records |
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| Alleles (FBal) | HUMAN_DISEASE_INTERACTIONS | 37 |
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Alleles | Genes |
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olivopontocerebellar atrophy | 37 | 29 | ameliorates | olivopontocerebellar atrophy | 16 | -- | exacerbates | olivopontocerebellar atrophy | 21 | -- | model of | olivopontocerebellar atrophy | 1 | -- |
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Relationships