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DO Term : sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [DOID:0111276] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A mitochondrial metabolism disease characterized by mitochondrial dysfunction resulting in adult onset of sensory ataxic neuropathy, dysarthria, and progressive external ophthalmoparesis that has_material_basis_in homozygous or compound heterozygous mutation in POLG on 15q26.1.
  • synonyms:
  • SANDO,
  • autosomal recessive sensory ataxic neuropathy with mitochondrial DNA deletions,
  • SNOMEDCT_US_2023_03_01:717266001,
  • UMLS_CUI:C1843851,
  • ORDO:70595,
  • 607459,
  • OMIM:607459,
  • MESH:C537583
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