Summary Literature (0)

DOID:0050881 - inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Disease Ontology Definition:A syndrome that is characterized by progressive proximal muscle weakness, steolytic bone lesions consistent with Paget disease, and frontotemporal dementia and has_physical_basis_in mutation in the valosin containing protein (VCP).

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

Echinobase Genes :


OMIM:

MIM:167320 - inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1; ibmpfd1

MIM:615422 - inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2; ibmpfd2

MIM:615424 - inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3; ibmpfd3

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee