OBO ID: DOID:14784
Term Name: olivopontocerebellar atrophy Search Ontology:
Synonyms:
  • 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. http://www.ninds.nih.gov/disorders/opca/opca.htm
References:
  • MESH:D009849
  • NCI:C84947
  • SNOMEDCT_US_2023_03_01:67761004
  • UMLS_CUI:C0028968
Ontology: Human Disease   ( DOID:14784 )
Relationships
is a type of:
OTHER olivopontocerebellar atrophy PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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