1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0110683 | congenital myasthenic syndrome 18 | A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic neuromuscular junction defects, early-onset muscle weakness, easy fatigability, delayed psychomotor development and ataxia that has_material_basis_in heterozygous mutation in the SNAP25 gene on chromosome 20p11. |
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. |
