inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1

Summary

DOID:0111385 - inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1

Disease Ontology Definition:An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in VCP on chromosome 9p13.3.

Synonyms: IBMPFD1, MSP1, multisystem proteinopathy 1,

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

OMIM:

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

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

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

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

Parent(s): autosomal dominant disease (is_a), inclusion body myopathy with Paget disease of bone and frontotemporal dementia (is_a)