21 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:0080001 | bone disease | A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function. |
| DOID:65 | connective tissue disease | A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage. |
| DOID:0050177 | monogenic disease | A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive. |
| DOID:630 | genetic disease | A disease that has_material_basis_in genetic variations in the human genome. |
| DOID:0050736 | autosomal dominant disease | An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease. |
| DOID:0050739 | autosomal genetic disease | A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes. |
| 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: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:11720 | distal myopathy | A muscular dystrophy that is characterized by predominant weakness and atrophy beginning in the feet and/or hands. |
| DOID:0111078 | tibial muscular dystrophy | A distal myopathy that is characterized by autosomal dominant inheritance of late-onset muscular dystrophy beginning in the anterior compartment of the legs that has_material_basis_in heterozygous mutation in the gene encoding the giant skeletal muscle protein titin (TTN) on chromosome 2q31. |
20 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:11720 | DOID:0111078 |
| is_a | DOID:0050736 | DOID:0111078 |
| is_a | DOID:0080001 | DOID:0111078 |
| is_a | DOID:0050177 | DOID:0111078 |
| is_a | DOID:0080000 | DOID:0111078 |
| is_a | DOID:0050692 | DOID:0111078 |
| is_a | DOID:913 | DOID:0111078 |
| is_a | DOID:66 | DOID:0111078 |
| is_a | DOID:9884 | DOID:0111078 |
| is_a | DOID:17 | DOID:0111078 |
| is_a | DOID:440 | DOID:0111078 |
| is_a | DOID:0050739 | DOID:0111078 |
| is_a | DOID:870 | DOID:0111078 |
| is_a | DOID:574 | DOID:0111078 |
| is_a | DOID:630 | DOID:0111078 |
| is_a | DOID:65 | DOID:0111078 |
| is_a | DOID:423 | DOID:0111078 |
| is_a | DOID:863 | DOID:0111078 |
| is_a | DOID:4 | DOID:0111078 |
| is_a | DOID:7 | DOID:0111078 |
