sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

Summary

DOID:0111276 - sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

Disease Ontology 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.

Synonyms: autosomal recessive sensory ataxic neuropathy with mitochondrial DNA deletions, SANDO

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: polg, prickle2, twnk

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), mitochondrial metabolism disease (is_a)