FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term inclusion body myopathy and brain white matter abnormalities ID (Ontology) DOID:0081121 (Human Disease)
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.
Also Known As "multisystem proteinopathy 6"
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 inclusion body myopathy and brain white matter abnormalities       2
 for disease ribbon | inclusion body myopathy and brain white matter abnormalities       2
 model of | inclusion body myopathy and brain white matter abnormalities       2
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autosomal genetic disease
 |__autosomal dominant disease______________________________________________________
syndrome                                                                            |
 |__inclusion body myopathy with Paget disease of bone and frontotemporal dementia__|
                                                                                    inclusion body myopathy and brain white matter abnormalities  2 rec.
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Is a autosomal dominant disease
inclusion body myopathy with Paget disease of bone and frontotemporal dementia
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Synonyms
  • "multisystem proteinopathy 6" EXACT
Secondary IDs
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MIM:619733