inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3

Summary

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

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

: hnrnpa1

MIM:

MIM:615424 - INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3; IBMPFD3

MIM:615424 - INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3; IBMPFD3

Other Model Organisms: Alliance, 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)