Autosomal Domit Distal Hereditary Motor Neuronopathy 8
Disease ID: disease_node_18003
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| Dbxref | MIM:600175 |
|---|---|
| Subclassof | DOID_0111198 |
| Data Source | DOID |
| Synonyms | DHMN8, HMN8, autosomal dominant benign distal spinal muscular atrophy, autosomal dominant congenital benign spinal muscular atrophy, congenital benign spinal muscular atrophy with contractures, congenital nonprogressive spinal muscular atrophy, distal hereditary motor neuronopathy type 8, distal hereditary motor neuropathy type VIII |
| Doid Label | autosomal domit distal hereditary motor neuronopathy 8 |
| Doid Description | An autosomal domit distal hereditary motor neuronopathy that is characterized by congenital, non-progressive, predomitly distal, lower limb muscle weakness and atrophy with variable severity that has_material_basis_in heterozygous mutation in the TRPV4 gene on 12q24.11. |
| Has Symptom | SYMP_0000094 |
| Disease Node Id | disease_node_18003 |
| Doid Id | DOID_0111215 |
| Label | Autosomal Domit Distal Hereditary Motor Neuronopathy 8 |
- Outgoing r'ship
HAS_SYMPTOMto/from Muscle Weakness(ID:disease_node_9835;disease_node_21022) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Distal Hereditary Motor Neuronopathy(ID:disease_node_18002) (Disease)