1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0110662 | congenital myasthenic syndrome 1B | A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0080015 | physical disorder | A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. |
