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: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:0081337 | congenital myopathy | A myopathy that is characterized by hypotonia and weakness, usually present from birth. |
| DOID:14717 | centronuclear myopathy | A congenital structural myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery. |
| DOID:0111216 | autosomal recessive centronuclear myopathy | A centronuclear myopathy that has_material_basis_in autosomal recessive inheritance. |
| DOID:422 | congenital structural myopathy | A myopathy that is characterized by hypotonia, muscle weakness, and delayed development of motor skills. |
| DOID:0111222 | centronuclear myopathy 5 | An autosomal recessive centronuclear myopathy characterized by severe neonatal hypotonia, respiratory insufficiency, and difficulty feeding that has_material_basis_in homozygous or compound heterozygous mutation in SPEG on 2q35. |
15 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0111216 | DOID:0111222 |
| is_a | DOID:14717 | DOID:0111222 |
| is_a | DOID:0081337 | DOID:0111222 |
| is_a | DOID:0080015 | DOID:0111222 |
| is_a | DOID:0050177 | DOID:0111222 |
| is_a | DOID:7 | DOID:0111222 |
| is_a | DOID:0080000 | DOID:0111222 |
| is_a | DOID:66 | DOID:0111222 |
| is_a | DOID:17 | DOID:0111222 |
| is_a | DOID:630 | DOID:0111222 |
| is_a | DOID:0050737 | DOID:0111222 |
| is_a | DOID:422 | DOID:0111222 |
| is_a | DOID:423 | DOID:0111222 |
| is_a | DOID:0050739 | DOID:0111222 |
| is_a | DOID:4 | DOID:0111222 |
