Search Ontology:
Human Disease

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

Term ID
DOID:0111384
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
Ontology
Human Disease   ( DOID:0111384 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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