FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 ID (Ontology) DOID:0111384 (Human Disease)
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.
Also Known As "IBMPFD2" ; "MSP2" ; "multisystem proteinopathy 2"
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       6
Human Disease Models (FBhh)  DOID       1
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 Alleles Genes Human Disease Models
 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2       6      6      1
 ameliorates | inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2       1       --       --
 for disease ribbon | inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2       --       4       --
 model of | inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2       5      4       --
Spanning Tree (Parents/Children)
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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 2  13 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
  • "IBMPFD2" EXACT OMO:0003012
    "MSP2" EXACT OMO:0003012
    "multisystem proteinopathy 2" EXACT
Secondary IDs
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MIM:615422