Autosomal Domit Distal Hereditary Motor Neuronopathy 11
Disease ID: disease_node_18012
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| Dbxref | MIM:620528 |
|---|---|
| Subclassof | DOID_0111198 |
| Data Source | DOID |
| Doid Label | autosomal domit distal hereditary motor neuronopathy 11 |
| Doid Description | An autosomal domit distal hereditary motor neuronopathy that is characterized by juvenile or young-adult onset of distal limb muscle weakness and atrophy mainly affecting the lower limbs, resulting in gait instability and walking difficulties and that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34. |
| Disease Node Id | disease_node_18012 |
| Doid Id | DOID_0081400 |
| Label | Autosomal Domit Distal Hereditary Motor Neuronopathy 11 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Distal Hereditary Motor Neuronopathy(ID:disease_node_18002) (Disease)