|
General Information
|
| Term |
autosomal dominant distal hereditary motor neuronopathy 7 |
ID (Ontology) |
DOID:0111199 (Human Disease) |
| Definition |
An autosomal dominant distal hereditary motor neuronopathy that is characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis and that has_material_basis_in heterozygous mutation in the SLC5A7 gene on 2q12.3. |
| Also Known As |
"dHMN7" ; "DHMN7A" ; "DHMNVPy" (for all, see Synonyms field below) |
| 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)
|
|
No relevant records available
|
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
| Full annotation statements | Relevant FlyBase reports |
|---|
| Genes |
|---|
autosomal dominant distal hereditary motor neuronopathy 7 | 1 | for disease ribbon | autosomal dominant distal hereditary motor neuronopathy 7 | 1 | model of | autosomal dominant distal hereditary motor neuronopathy 7 | 1 |
|