Reducing Body Myopathy 1A
Disease ID: disease_node_18985
Connections displayed (default: 10).
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| Dbxref | GARD:12162, MIM:300717 |
|---|---|
| Subclassof | DOID_423, DOID_0080009 |
| Data Source | DOID |
| Doid Label | reducing body myopathy 1A |
| 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 infantile or early childhood onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26. |
| Has Material Basis In | GENO_0000146 |
| Disease Node Id | disease_node_18985 |
| Doid Id | DOID_0080090 |
| Label | Reducing Body Myopathy 1A |
- Outgoing r'ship
SUBCLASS_OFto/from X-Linked Domit Disease(ID:disease_node_13587) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Muscular Diseases(ID:disease_node_5316) (Disease)