|
General Information
|
| Term |
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis |
ID (Ontology) |
DOID:0111276 (Human Disease) |
| 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. |
| Also Known As |
"autosomal recessive sensory ataxic neuropathy with mitochondrial DNA deletions" ; "SANDO" |
| Comment |
|
|
Links to External Ontologies
|
|
DO.org
|
|
Annotations
|
|
Records annotated with this term OR any of its CHILD TERMS
|
|
|
|
Records annotated with this exact term (annotations to child terms are NOT included)
|
| Data Class | Field | Records |
|---|
|
| Human Disease Models (FBhh) | DOID | 1 |
|
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
| Full annotation statements | Relevant FlyBase reports |
|---|
| Genes | Human Disease Models |
|---|
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 1 | 1 | for disease ribbon | sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 1 | -- | model of | sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 1 | -- |
|
Relationships