22 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: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:0080015 | physical disorder | A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. |
| DOID:0050737 | autosomal recessive disease | An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. |
| 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: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:0050558 | Ullrich congenital muscular dystrophy | A congenital muscular dystrophy that is characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, with a loss of ambulation (if achieved) and uniform respiratory insufficiency during childhood that has_material_basis_in mutations in COL6A1, COL6A2 and COL6A3 genes. |
| DOID:0060943 | Ullrich congenital muscular dystrophy 1C | An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous or heterozygous mutation in the COL6A3 gene on chromosome 2q37. |
21 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050558 | DOID:0060943 |
| is_a | DOID:0050177 | DOID:0060943 |
| is_a | DOID:9884 | DOID:0060943 |
| is_a | DOID:0080015 | DOID:0060943 |
| is_a | DOID:0050692 | DOID:0060943 |
| is_a | DOID:913 | DOID:0060943 |
| is_a | DOID:17 | DOID:0060943 |
| is_a | DOID:630 | DOID:0060943 |
| is_a | DOID:574 | DOID:0060943 |
| is_a | DOID:423 | DOID:0060943 |
| is_a | DOID:863 | DOID:0060943 |
| is_a | DOID:66 | DOID:0060943 |
| is_a | DOID:0050739 | DOID:0060943 |
| is_a | DOID:0050736 | DOID:0060943 |
| is_a | DOID:0080000 | DOID:0060943 |
| is_a | DOID:7 | DOID:0060943 |
| is_a | DOID:0050737 | DOID:0060943 |
| is_a | DOID:4 | DOID:0060943 |
| is_a | DOID:870 | DOID:0060943 |
| is_a | DOID:0050557 | DOID:0060943 |
| is_a | DOID:440 | DOID:0060943 |
