Reducing Body Myopathy 1B
Disease ID: disease_node_18972
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:300718 |
|---|---|
| Subclassof | DOID_423, DOID_0050735 |
| Data Source | DOID |
| Doid Label | reducing body myopathy 1B |
| Doid Description | A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with late childhood or adult onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26. |
| Has Material Basis In | GENO_0000936 |
| Disease Node Id | disease_node_18972 |
| Doid Id | DOID_0080687 |
| Label | Reducing Body Myopathy 1B |
- Outgoing r'ship
SUBCLASS_OFto/from Muscular Diseases(ID:disease_node_5316) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from X-Linked Monogenic Disease(ID:disease_node_13360) (Disease)