FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 ID (Ontology) DOID:0111386 (Human Disease)
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.
Also Known As "IBMPFD3" ; "MSP3" ; "multisystem proteinopathy 3"
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Human Disease Models (FBhh)  DOID       1
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 Genes Human Disease Models
 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3       4      1
 for disease ribbon | inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3       4       --
 model of | inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3       4       --
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autosomal genetic disease
 |__autosomal dominant disease______________________________________________________
syndrome                                                                            |
 |__inclusion body myopathy with Paget disease of bone and frontotemporal dementia__|
                                                                                    inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3  5 rec.
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Is a autosomal dominant disease
inclusion body myopathy with Paget disease of bone and frontotemporal dementia
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Synonyms
  • "IBMPFD3" EXACT OMO:0003012
    "MSP3" EXACT OMO:0003012
    "multisystem proteinopathy 3" EXACT
Secondary IDs
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MIM:615424