| Metadata | |
|---|---|
| ID | DOID:0081121 |
| Name | inclusion body myopathy and brain white matter abnormalities |
| Definition | 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. https://pubmed.ncbi.nlm.nih.gov/34048612/ |
| Xrefs | |
| Synonyms |
multisystem proteinopathy 6 [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a inclusion body myopathy with Paget disease of bone and frontotemporal dementia |
| Subclass Logical Relationships |
existence starts during some Adult onset has material basis in some autosomal dominant inheritance |