1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0111226 | X-linked congenital myopathy with fiber-type disproportion | A congenital fiber-type disproportion characterized by bilateral ptosis, facial weakness, impaired suckling, generalized hypotonia, and respiratory insufficiency that has_material_basis_in mutation in the chromosome region Xq13.1-q22.1. |
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. |
