12 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: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: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:0081340 | congenital myopathy 2C | A congenital myopathy that is characterized by severe congenital weakness usually resulting in death from respiratory failure in the first year or so of life and that has_material_basis_in heterozygous mutation in the ACTA1 gene on chromosome 1q42. Heterozygous mutation in the ACTA1 gene can also cause autosomal dominant typical congenital myopathy-2A (CMYP2A). Biallelic mutation in the ACTA1 gene causes autosomal recessive severe infantile congenital myopathy-2B (CMYP2B). |
11 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0081337 | DOID:0081340 |
| is_a | DOID:0050736 | DOID:0081340 |
| is_a | DOID:4 | DOID:0081340 |
| is_a | DOID:630 | DOID:0081340 |
| is_a | DOID:0080000 | DOID:0081340 |
| is_a | DOID:17 | DOID:0081340 |
| is_a | DOID:423 | DOID:0081340 |
| is_a | DOID:7 | DOID:0081340 |
| is_a | DOID:0050739 | DOID:0081340 |
| is_a | DOID:0050177 | DOID:0081340 |
| is_a | DOID:66 | DOID:0081340 |
