loading...| Preferred Name |
olivopontocerebellar atrophy |
| Synonyms |
WADIA-SWAMI SYNDROME |
| Definitions |
OMIM mapping confirmed by DO. [SN]. 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. |
| ID |
http://purl.obolibrary.org/obo/DOID_14784 |
| comment |
OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
MESH:D009849 SNOMEDCT_US_2022_09_01:67761004 UMLS_CUI:C0028968 NCI:C84947 |
| 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. |
| has exact synonym |
WADIA-SWAMI SYNDROME Dejerine-Thomas syndrome Thomas' syndrome |
| has_alternative_id |
DOID:12708 |
| has_obo_namespace |
disease_ontology |
| id |
DOID:14784 |
| in_subset | |
| label |
olivopontocerebellar atrophy |
| notation |
DOID:14784 |
| prefLabel |
olivopontocerebellar atrophy |
| subClassOf |