OBO ID: DOID:0111276
Term Name: sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Search Ontology:
Synonyms:
  • autosomal recessive sensory ataxic neuropathy with mitochondrial DNA deletions
  • SANDO
Definition: 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. (3)
References:
Ontology: Human Disease   (DOID:0111276)
OTHER sensory ataxic neuropathy, dysarthria, and ophthalmoparesis PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
POLG Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None