ZFIN Human Disease: inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2

OBO ID: DOID:0111384

OBO ID: DOID:0111384

Term Name:	inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2	Search Ontology:
Synonyms:	IBMPFD2 MSP2 multisystem proteinopathy 2
Definition:	An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in HNRPA2B1 on 7p15.2. https://www.ncbi.nlm.nih.gov/pubmed/23455423
References:	OMIM:615422
Ontology:	Human Disease ( DOID:0111384 )

Relationships

is a type of:	autosomal dominant disease inclusion body myopathy with Paget disease of bone and frontotemporal dementia autosomal dominant disease inclusion body myopathy with Paget disease of bone and frontotemporal dementia Show first 5 Terms

OTHER inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
HNRNPA2B1		?Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None