Spinal Muscular Atrophy, Jokela Type
Disease ID: disease_node_18023
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| Dbxref | MIM:615048, ORDO:276435 |
|---|---|
| Subclassof | DOID_0050736, DOID_12377 |
| Data Source | DOID |
| Doid Label | spinal muscular atrophy, Jokela type |
| Doid Description | A spinal muscular atrophy that is characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs and that has_material_basis_in heterozygous mutation in the CHCHD10 gene on chromosome 22q11. |
| Existence Starts During | HP_0003581 |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_18023 |
| Doid Id | DOID_0081356 |
| Label | Spinal Muscular Atrophy, Jokela Type |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)