Autosomal Recessive Distal Hereditary Motor Neuronopathy 5
Disease ID: disease_node_18015
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| Dbxref | MIM:614881, ORDO:314485 |
|---|---|
| Subclassof | DOID_0111197 |
| Data Source | DOID |
| Synonyms | DSMA5, autosomal recessive distal spinal muscular atrophy type 5, distal spinal muscular atrophy type 5, young adult-onset dHMN, young adult-onset distal hereditary motor neuropathy |
| Doid Label | autosomal recessive distal hereditary motor neuronopathy 5 |
| Doid Description | An autosomal recessive distal hereditary motor neuronopathy characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes that has_material_basis_in homozygous or compound heterozygous mutation in DNAJB2 on 2q35. |
| Has Symptom | SYMP_0000363, SYMP_0000094 |
| Disease Node Id | disease_node_18015 |
| Doid Id | DOID_0111214 |
| Label | Autosomal Recessive Distal Hereditary Motor Neuronopathy 5 |
- Outgoing r'ship
HAS_SYMPTOMto/from Progressive Weakness(ID:disease_node_21078) (Disease) - Outgoing r'ship
HAS_SYMPTOMto/from Muscle Weakness(ID:disease_node_9835;disease_node_21022) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Distal Hereditary Motor Neuronopathy(ID:disease_node_18014) (Disease)