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ONTOLOGY REPORT - ANNOTATIONS


Term:inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3
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Accession:DOID:0111386 term browser browse the term
Definition:An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in HNRNPA1 on chromosome 12q13.13. (DO)
Synonyms:exact_synonym: IBMPFD3;   Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 3;   MSP3;   MULTISYSTEM PROTEINOPATHY 3
 primary_id: OMIM:615424
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inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 JBrowse link 7 144,865,302 144,871,592 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15489
    syndrome 5228
      inclusion body myopathy with Paget disease of bone and frontotemporal dementia 5
        inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 1
Path 2
Term Annotations click to browse term
  disease 15489
    disease of anatomical entity 14790
      nervous system disease 10147
        peripheral nervous system disease 2164
          neuropathy 1988
            neuromuscular disease 1558
              muscular disease 1001
                muscle tissue disease 694
                  myopathy 558
                    muscular dystrophy 279
                      limb-girdle muscular dystrophy 121
                        inclusion body myopathy with Paget disease of bone and frontotemporal dementia 5
                          inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 1
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