Juvenile Amyotrophic Lateral Sclerosis Type 27
Disease ID: disease_node_14038
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| Dbxref | MIM:620285 |
|---|---|
| Subclassof | DOID_0050736, DOID_332 |
| Data Source | DOID |
| Doid Label | juvenile amyotrophic lateral sclerosis type 27 |
| Doid Description | An amyotrophic lateral sclerosis that is characterized by early childhood-onset lower extremity spasticity manifesting as toe walking and gait abnormalities, followed by progressive lower motor neuron-mediated weakness without sensory signs or symptoms and that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22. |
| Existence Starts During | HP_0003621 |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_14038 |
| Doid Id | DOID_0081381 |
| Label | Juvenile Amyotrophic Lateral Sclerosis Type 27 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)