10 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:0050557 | congenital muscular dystrophy | A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted. |
| DOID:9884 | muscular dystrophy | A myopathy is characterized by progressive skeletal muscle weakness degeneration. |
| 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:0050663 | Bethlem myopathy | A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the COL6A1 gene, the COL6A2 gene, or the COL6A3 gene. |
9 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050557 | DOID:0050663 |
| is_a | DOID:17 | DOID:0050663 |
| is_a | DOID:0080000 | DOID:0050663 |
| is_a | DOID:0080015 | DOID:0050663 |
| is_a | DOID:66 | DOID:0050663 |
| is_a | DOID:9884 | DOID:0050663 |
| is_a | DOID:4 | DOID:0050663 |
| is_a | DOID:423 | DOID:0050663 |
| is_a | DOID:7 | DOID:0050663 |
