Autosomal Domit Distal Hereditary Motor Neuronopathy 7
Disease ID: disease_node_18010
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| Dbxref | MIM:158580, ORDO:139589 |
|---|---|
| Subclassof | DOID_0111198 |
| Data Source | DOID |
| Synonyms | DHMN7A, DHMNVPy, HMN VIIA, HMN7A, Harper-Young myopath, dHMN7, distal hereditary motor neuronopathy type 7, distal hereditary motor neuropathy type VIIA, distal spinal muscular atrophy with vocal cord paralysis, distal spinal muscular atrophy with vocal cord paralysis type 7A |
| Doid Label | autosomal domit distal hereditary motor neuronopathy 7 |
| Doid Description | An autosomal domit distal hereditary motor neuronopathy that is characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis and that has_material_basis_in heterozygous mutation in the SLC5A7 gene on 2q12.3. |
| Has Symptom | SYMP_0000094 |
| Disease Node Id | disease_node_18010 |
| Doid Id | DOID_0111199 |
| Label | Autosomal Domit Distal Hereditary Motor Neuronopathy 7 |
| Doid Alternate Ids | DOID_0111201 |
- 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)