Spinal Muscular Atrophy With Lower Extremity Predomit 2B
Disease ID: disease_node_18026
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| Dbxref | MIM:618291 |
|---|---|
| Subclassof | DOID_0070348 |
| Data Source | DOID |
| Synonyms | spinal muscular atrophy with lower extremity predominance 2B |
| Doid Label | spinal muscular atrophy with lower extremity predomit 2B |
| Doid Description | A spinal muscular atrophy with lower extremity predomice that is characterized by decreased fetal movements and are congenital contractures consistent with arthrogryposis multiplex congenita and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_18026 |
| Doid Id | DOID_0070350 |
| Label | Spinal Muscular Atrophy With Lower Extremity Predomit 2B |
- Outgoing r'ship
SUBCLASS_OFto/from Spinal Muscular Atrophy With Lower Extremity Predomit(ID:disease_node_18024) (Disease)