8 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: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:0080307 | myofibrillar myopathy | A myopathy that is characterized by slowly progressive muscle weakness that can involve both proximal muscles and distal muscles. |
| DOID:0111188 | myofibrillar myopathy 9 | A myofibrillar myopathy characterized by adult onset of slowly progressive muscle weakness involving the diaphragm and resulting in respiratory insufficiency that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31. |
7 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0080307 | DOID:0111188 |
| is_a | DOID:423 | DOID:0111188 |
| is_a | DOID:0080000 | DOID:0111188 |
| is_a | DOID:4 | DOID:0111188 |
| is_a | DOID:7 | DOID:0111188 |
| is_a | DOID:66 | DOID:0111188 |
| is_a | DOID:17 | DOID:0111188 |
12 Synonyms
| Name | Type |
|---|---|
| autosomal dominant distal myopathy with early respiratory failure | synonym |
| Edstrom myopathy | synonym |
| Hereditary inclusion body myopathy with early respiratory failure | synonym |
| hereditary myopathy with early respiratory failure | synonym |
| HIBM-ERF | synonym |
| HMERF | synonym |
| MFM-titinopathy | synonym |
| MFM9 | synonym |
| MPRM | synonym |
| myofibrillar myopathy 9 with early respiratory failure | synonym |
| Myofibrillar myopathy-titinopathy | synonym |
| proximal myopathy with early respiratory muscle involvement | synonym |
