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

OBO ID: DOID:0111386

OBO ID: DOID:0111386

Term Name:	inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3	Search Ontology:
Synonyms:	IBMPFD3 MSP3 multisystem proteinopathy 3
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. https://www.ncbi.nlm.nih.gov/pubmed/23455423
References:	OMIM:615424
Ontology:	Human Disease ( DOID:0111386 )

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 3 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
HNRNPA1	hnrnpa1a hnrnpa1b	?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3	615424

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None