Myofibrillar Myopathy 9
Disease ID: disease_node_18975
Connections displayed (default: 10).
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| Dbxref | GARD:12591, MIM:603689, ORDO:178464 |
|---|---|
| Subclassof | DOID_0080307 |
| Data Source | DOID |
| Synonyms | Edstrom myopathy, HIBM-ERF, HMERF, Hereditary inclusion body myopathy with early respiratory failure, MFM-titinopathy, MFM9, MPRM, Myofibrillar myopathy-titinopathy, autosomal dominant distal myopathy with early respiratory failure, hereditary myopathy with early respiratory failure, myofibrillar myopathy 9 with early respiratory failure, proximal myopathy with early respiratory muscle involvement |
| Doid Label | myofibrillar myopathy 9 |
| Doid Description | 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. |
| Has Symptom | SYMP_0000363, SYMP_0000094 |
| Disease Node Id | disease_node_18975 |
| Doid Id | DOID_0111188 |
| Label | Myofibrillar Myopathy 9 |
- Outgoing r'ship
HAS_SYMPTOMto/from Muscle Weakness(ID:disease_node_9835;disease_node_21022) (Disease) - Outgoing r'ship
HAS_SYMPTOMto/from Progressive Weakness(ID:disease_node_21078) (Disease)