18 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:630 | genetic disease | A disease that has_material_basis_in genetic variations in the human genome. |
| 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:0080578 | digenic disease | A polygenic disease that is characterized by expression of a phenotype that requires the presence of pathogenic variants in two different genes. |
| DOID:0080577 | polygenic disease | A genetic disease that is characterized by the additive contributions of variants in multiple genes at different loci. |
| 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: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:11727 | facioscapulohumeral muscular dystrophy | |
| DOID:0060918 | facioscapulohumeral muscular dystrophy 4 | A facioscapulohumeral muscular dystrophy characterized by adult onset of progressive muscle weakness of the face and upper extremity muscles with disease progression that has_material_basis_in the combination of a heterozygous mutation in the DNMT3B gene on chromosome 20q11 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression. |
17 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:11727 | DOID:0060918 |
| is_a | DOID:0080578 | DOID:0060918 |
| is_a | DOID:913 | DOID:0060918 |
| is_a | DOID:0080000 | DOID:0060918 |
| is_a | DOID:17 | DOID:0060918 |
| is_a | DOID:7 | DOID:0060918 |
| is_a | DOID:4 | DOID:0060918 |
| is_a | DOID:630 | DOID:0060918 |
| is_a | DOID:574 | DOID:0060918 |
| is_a | DOID:423 | DOID:0060918 |
| is_a | DOID:863 | DOID:0060918 |
| is_a | DOID:66 | DOID:0060918 |
| is_a | DOID:0080577 | DOID:0060918 |
| is_a | DOID:870 | DOID:0060918 |
| is_a | DOID:440 | DOID:0060918 |
| is_a | DOID:9884 | DOID:0060918 |
| is_a | DOID:0050692 | DOID:0060918 |
