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sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (DOID:0111276)
Alliance: disease page
Synonyms: autosomal recessive sensory ataxic neuropathy with mitochondrial DNA deletions; SANDO
Alt IDs: OMIM:607459, MESH:C537583, ORDO:70595, UMLS_CUI:C1843851
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
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