|
| General Information | |||
|---|---|---|---|
| Term | hyaline body myopathy | ID (Ontology) | DOID:0111267 (Human Disease) |
| Definition | A congenital myopathy characterized by accumulation of ATPase and antibody positive myosin in hyaline subsarcolemmal bodies in type I muscle fibers and a variable development of muscle weakness that has_material_basis_in mutation in MYH7 on 14q11.2. | ||
| Also Known As | "myosin storage myopathy" | ||
| Comment | |||
| Links to External Ontologies | |||
| DO.org | |||
| Annotations | |||
| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
|||
|
No relevant statements available
|
|||
|
||||||
myopathy |__congenital myopathy |__hyaline body myopathy 11 rec. |__autosomal dominant hyaline body myopathy 11 rec. |__autosomal recessive hyaline body myopathy 1 rec. |
| Spanning Tree View Settings | |||
|---|---|---|---|
| Parents/Children View Depth |
|||
Relationships
|
|||
| Is a | congenital myopathy | ||
| Part of | |||
|
Synonyms & Secondary IDs
|
|||
| Synonyms | |||
|
|||
| Secondary IDs | |||
|
|
|||
|
External Crossreferences & Linkouts
|
|||
|
GARD:7148 ORDO:53698 |
|||