Search Ontology:
Human Disease

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

Term ID
DOID:0111386
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
Ontology
Human Disease   ( DOID:0111386 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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