Autosomal Domit Distal Hereditary Motor Neuronopathy 13
Disease ID: disease_node_18011
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| Dbxref | MIM:619112 |
|---|---|
| Subclassof | DOID_0111198 |
| Data Source | DOID |
| Doid Label | autosomal domit distal hereditary motor neuronopathy 13 |
| Doid Description | An autosomal domit distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12. |
| Disease Node Id | disease_node_18011 |
| Doid Id | DOID_0081401 |
| Label | Autosomal Domit Distal Hereditary Motor Neuronopathy 13 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Distal Hereditary Motor Neuronopathy(ID:disease_node_18002) (Disease)