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: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: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: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:0080000 | muscular disease | A musculoskeletal system disease that affects the muscles. |
| DOID:0111229 | congenital muscular dystrophy-dystroglycanopathy type A | A congenital muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing. |
| DOID:0112374 | muscular dystrophy-dystroglycanopathy | A congenital muscular dystrophy characterized by muscular dystrophy resulting from defective glycosylation of dystroglycan. |
| DOID:0111238 | congenital muscular dystrophy-dystroglycanopathy type A13 | A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B4GAT1 on 11q13.2. |
15 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0111229 | DOID:0111238 |
| is_a | DOID:0080000 | DOID:0111238 |
| is_a | DOID:7 | DOID:0111238 |
| is_a | DOID:0112374 | DOID:0111238 |
| is_a | DOID:4 | DOID:0111238 |
| is_a | DOID:17 | DOID:0111238 |
| is_a | DOID:630 | DOID:0111238 |
| is_a | DOID:423 | DOID:0111238 |
| is_a | DOID:0080015 | DOID:0111238 |
| is_a | DOID:0050739 | DOID:0111238 |
| is_a | DOID:66 | DOID:0111238 |
| is_a | DOID:0050557 | DOID:0111238 |
| is_a | DOID:0050737 | DOID:0111238 |
| is_a | DOID:9884 | DOID:0111238 |
| is_a | DOID:0050177 | DOID:0111238 |
