ZFIN Human Disease: inclusion body myopathy with Paget disease of bone and frontotemporal dementia

OBO ID: DOID:0050881

OBO ID: DOID:0050881

Term Name:	inclusion body myopathy with Paget disease of bone and frontotemporal dementia	Search Ontology:
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:	MESH:C563476 OMIM:PS167320 ORDO:52430
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

is a type of:

has subtype:

OTHER inclusion body myopathy with Paget disease of bone and frontotemporal dementia PAGES

Alliance (1)

GENES INVOLVED No data available

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None