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Metadata
ID DOID:0050881
Name inclusion body myopathy with Paget 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.
http://omim.org/entry/167320, https://www.ncbi.nlm.nih.gov/pubmed/19380227, https://www.ncbi.nlm.nih.gov/pubmed/21304887, https://www.ncbi.nlm.nih.gov/pubmed/21892620
Xrefs

MESH:C563476

OMIM:PS167320

ORDO:52430

Subsets

DO_FlyBase_slim

DO_rare_slim

Synonyms

IBMPFD [EXACT]

inclusion body myopathy with Paget's disease of bone and frontotemporal dementia [EXACT]

Parent Relationships

is_a syndrome

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