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DO Term : olivopontocerebellar atrophy [DOID:14784] Disease Ontology

Namespace  disease_ontology Obsolete  false
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.
  • synonyms:
  • WADIA-SWAMI SYNDROME,
  • DOID:12708,
  • Thomas' syndrome,
  • NCI:C84947,
  • UMLS_CUI:C0028968,
  • Dejerine-Thomas syndrome,
  • MESH:D009849,
  • SNOMEDCT_US_2023_03_01:67761004
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Disease

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Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents