16 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:863 | nervous system disease | A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system. |
| DOID:574 | peripheral nervous system disease | A nervous system disease that affects the peripheral nervous system. |
| DOID:17 | musculoskeletal system disease | A disease of anatomical entity that occurs in the muscular and/or skeletal system. |
| DOID:870 | neuropathy | A nervous system disease that is located_in nerves or nerve cells. |
| DOID:440 | neuromuscular disease | A neuropathy that affect the nerves that control the voluntary muscles. |
| DOID:0080015 | physical disorder | A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. |
| DOID:9884 | muscular dystrophy | A myopathy is characterized by progressive skeletal muscle weakness degeneration. |
| 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: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:913 | atrophic muscular disease | A neuromuscular disease that is characterized by an abnormal reduction in the muscle volume and atrophy. |
| DOID:0080000 | muscular disease | A musculoskeletal system disease that affects the muscles. |
| DOID:0050692 | Brody myopathy | A neuromuscular disease is characterized by difficulty relaxing muscles and muscle stiffness following exercise or other strenuous activity and is located in skeletal 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. |
15 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050557 | DOID:0050663 |
| is_a | DOID:913 | 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:574 | DOID:0050663 |
| is_a | DOID:870 | DOID:0050663 |
| is_a | DOID:440 | DOID:0050663 |
| is_a | DOID:4 | DOID:0050663 |
| is_a | DOID:423 | DOID:0050663 |
| is_a | DOID:863 | DOID:0050663 |
| is_a | DOID:7 | DOID:0050663 |
| is_a | DOID:9884 | DOID:0050663 |
| is_a | DOID:0050692 | DOID:0050663 |
