inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Term ID

DOID:0050881

Synonyms

IBMPFD
inclusion body myopathy with Paget's disease of bone and frontotemporal dementia

Definition

A syndrome that is characterized by progressive proximal muscle weakness, steolytic bone lesions consistent with Paget disease, and frontotemporal dementia and has_material_basis_in mutation in the valosin containing protein. (4)

References

Ontology

Human Disease ( DOID:0050881 )

Relationships

is a type of: syndrome

syndrome Show first 5 Terms
has subtype: inclusion body myopathy and brain white matter abnormalities inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3

inclusion body myopathy and brain white matter abnormalities inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 Show first 5 Terms

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Alliance (1)

Genes Involved

Zebrafish Models

Citations