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DOID:0111386 - inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3
Disease Ontology Definition:An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in the HNRNPA1 gene on chromosome 12q13.13.
Synonyms: IBMPFD3, MSP3, multisystem proteinopathy 3,
Xenbase Genes : hnrnpa1
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)