Hyaline Body Myopathy
Disease ID: disease_node_18940
Connections displayed (default: 10).
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| Dbxref | GARD:7148, ORDO:53698 |
|---|---|
| Subclassof | DOID_0081337 |
| Data Source | DOID |
| Synonyms | myosin storage myopathy |
| Doid Label | hyaline body myopathy |
| Doid Description | 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. |
| Disease Node Id | disease_node_18940 |
| Doid Id | DOID_0111267 |
| Label | Hyaline Body Myopathy |
- Outgoing r'ship
SUBCLASS_OFto/from Congenital Myopathy(ID:disease_node_18926) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Autosomal Recessive Hyaline Body Myopathy(ID:disease_node_18942) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Autosomal Domit Hyaline Body Myopathy(ID:disease_node_18941) (Disease)