Search Ontology:
Human Disease
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
- Term ID
- DOID:0111276
- 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
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- MESH:C537583
- MIM:607459
- ORDO:70595
- Ontology
- Human Disease ( DOID:0111276 )
- is a type of
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Other Pages
Genes Involved
Human Gene | Zebrafish Ortholog | OMIM Term | Disease | OMIM Phenotype ID |
---|---|---|---|---|
POLG | Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) | sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 607459 |
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Zebrafish Models