1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0081349 | congenital myopathy 17 | A congenital myopathy that is characterized by hypotonia and respiratory insufficiency present at birth with associated with high diaphragmatic dome on imaging and that has_material_basis_in homozygous mutation in the MYOD1 gene on chromosome 11p15. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:17 | musculoskeletal system disease | A disease of anatomical entity that occurs in the muscular and/or skeletal system. |
