Autosomal Recessive Distal Hereditary Motor Neuronopathy 8
Disease ID: disease_node_18019
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| Dbxref | MIM:618912 |
|---|---|
| Subclassof | DOID_0111197 |
| Data Source | DOID |
| Synonyms | SORDD, sorbitol dehydrogenase deficiency with peripheral neuropathy |
| Doid Label | autosomal recessive distal hereditary motor neuronopathy 8 |
| Doid Description | An autosomal recessive distal hereditary motor neuronopathy characterized by onset of distal muscle weakness mainly affecting the lower limbs and resulting in difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SORD gene on chromosome 15q21. |
| Disease Node Id | disease_node_18019 |
| Doid Id | DOID_0081427 |
| Label | Autosomal Recessive Distal Hereditary Motor Neuronopathy 8 |
| Doid Alternate Ids | DOID_0081376 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Distal Hereditary Motor Neuronopathy(ID:disease_node_18014) (Disease)