Muscular Atrophy, Spinal
Disease ID: disease_node_5313
Connections displayed (default: 10).
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| Dbxref | GARD:10314, ICD10CM:G12.1, MESH:D009134, MIM:181405, ORDO:431255, SNOMEDCT_US_2023_03_01:230248006, UMLS_CUI:C0751335 |
|---|---|
| Subclassof | DOID_0050736, DOID_231 |
| Data Source | DOID, MESH |
| Synonyms | SPSMA, neurogenic scapuloperoneal amyotrophy, New England type, scapuloperoneal neuronopathy |
| Mesh Id | D009134 |
| Mesh Label | Muscular Atrophy, Spinal |
| Mesh Subclassof | D016472, D013118 |
| Doid Label | scapuloperoneal spinal muscular atrophy |
| Doid Description | A motor neuron disease characterized by progressive scapuloperoneal atrophy and weakness, laryngeal palsy, congenital absence of muscles and in some cases developmental abnormalities of the bones that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. |
| Has Symptom | SYMP_0000094 |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_5313 |
| Doid Id | DOID_0111552 |
| Label | Muscular Atrophy, Spinal |
- Outgoing r'ship
HAS_SYMPTOMto/from Muscle Weakness(ID:disease_node_9835;disease_node_21022) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)