|
General Information
|
| Term |
myofibrillar myopathy 9 |
ID (Ontology) |
DOID:0111188 (Human Disease) |
| Definition |
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. |
| Also Known As |
"autosomal dominant distal myopathy with early respiratory failure" ; "Edstrom myopathy" ; "Hereditary inclusion body myopathy with early respiratory failure" (for all, see Synonyms field below) |
| Comment |
|
|
Links to External Ontologies
|
|
DO.org
|
|
Annotations
|
|
Records annotated with this term OR any of its CHILD TERMS
|
|
|
|
Records annotated with this exact term (annotations to child terms are NOT included)
|
|
No relevant records available
|
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
| Full annotation statements | Relevant FlyBase reports |
|---|
| Genes |
|---|
myofibrillar myopathy 9 | 3 | for disease ribbon | myofibrillar myopathy 9 | 3 | model of | myofibrillar myopathy 9 | 3 |
|
Relationships