| Metadata | |
|---|---|
| ID | DOID:0111276 |
| Name | sensory ataxic neuropathy, dysarthria, and ophthalmoparesis |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/12565911, https://www.ncbi.nlm.nih.gov/pubmed/20220442, https://www.ncbi.nlm.nih.gov/pubmed/9222196 |
| Xrefs |
SNOMEDCT_US_2023_03_01:717266001 |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive sensory ataxic neuropathy with mitochondrial DNA deletions [EXACT] SANDO [EXACT] |
| Parent Relationships |