11 Parents
| Identifier | Name | Description |
|---|---|---|
| DOID:7 | disease of anatomical entity | A disease that manifests in a defined anatomical structure. |
| DOID:4 | disease | A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism. |
| DOID:17 | musculoskeletal system disease | A disease of anatomical entity that occurs in the muscular and/or skeletal system. |
| DOID:0080015 | physical disorder | A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. |
| DOID:423 | myopathy | A muscular disease in which the muscle fibers do not function resulting in muscular weakness. |
| DOID:66 | muscle tissue disease | A muscular disease located in the muscle tissue. |
| DOID:0080000 | muscular disease | A musculoskeletal system disease that affects the muscles. |
| DOID:0081337 | congenital myopathy | A myopathy that is characterized by hypotonia and weakness, usually present from birth. |
| DOID:14717 | centronuclear myopathy | A congenital structural myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery. |
| DOID:422 | congenital structural myopathy | A myopathy that is characterized by hypotonia, muscle weakness, and delayed development of motor skills. |
| DOID:0111225 | centronuclear myopathy X-linked | A centronuclear myopathy that has_material_basis_in X-linked inheritance of mutations in MTM1 on Xq28. |
10 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:14717 | DOID:0111225 |
| is_a | DOID:17 | DOID:0111225 |
| is_a | DOID:0080000 | DOID:0111225 |
| is_a | DOID:4 | DOID:0111225 |
| is_a | DOID:7 | DOID:0111225 |
| is_a | DOID:422 | DOID:0111225 |
| is_a | DOID:423 | DOID:0111225 |
| is_a | DOID:0081337 | DOID:0111225 |
| is_a | DOID:0080015 | DOID:0111225 |
| is_a | DOID:66 | DOID:0111225 |
