Inclusion Body Myopathy And Brain White Matter Abnormalities
Disease ID: disease_node_20029
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| Dbxref | MIM:619733 |
|---|---|
| Subclassof | DOID_0050736, DOID_0050881 |
| Data Source | DOID |
| Synonyms | multisystem proteinopathy 6 |
| Doid Label | inclusion body myopathy and brain white matter abnormalities |
| Doid Description | An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that is characterized by proximal limb girdle muscle weakness affecting the lower and upper limbs and resulting in gait difficulties and scapular winging and that has_material_basis_in heterozygous mutation in the ANXA11 gene on chromosome 10q22. |
| Existence Starts During | HP_0003581 |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20029 |
| Doid Id | DOID_0081121 |
| Label | Inclusion Body Myopathy And Brain White Matter Abnormalities |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)