Spinal Muscular Atrophy With Lower Extremity Predomit 2A
Disease ID: disease_node_18027
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| Dbxref | MIM:615290 |
|---|---|
| Subclassof | DOID_0070348 |
| Data Source | DOID |
| Synonyms | spinal muscular atrophy with lower extremity predominance 2A |
| Doid Label | spinal muscular atrophy with lower extremity predomit 2A |
| Doid Description | A spinal muscular atrophy with lower extremity predomice that is characterized by early childhood onset of muscle weakness and atrophy predomitly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extremity involvement and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22. |
| Has Symptom | SYMP_0000094 |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_18027 |
| Doid Id | DOID_0070349 |
| Label | Spinal Muscular Atrophy With Lower Extremity Predomit 2A |
- Outgoing r'ship
HAS_SYMPTOMto/from Muscle Weakness(ID:disease_node_9835;disease_node_21022) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Spinal Muscular Atrophy With Lower Extremity Predomit(ID:disease_node_18024) (Disease)