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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2
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Accession:DOID:0111384 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 HNRPA2B1 on 7p15.2. (DO)
Synonyms:exact_synonym: IBMPFD2;   Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 2;   MSP2;   MULTISYSTEM PROTEINOPATHY 2
 primary_id: MIM:615422


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inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | ClinVar Annotator: match by term: MULTISYSTEM PROTEINOPATHY 2 OMIM
ClinVar		 PMID:9536098 PMID:11891683 PMID:16199547 PMID:17576681 PMID:23455423 More... NCBI chr 4:80,534,659...80,545,297
Ensembl chr 4:80,534,651...80,545,249 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19051
    syndrome 11180
      inclusion body myopathy with Paget disease of bone and frontotemporal dementia 6
        inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 1
Path 2
Term Annotations click to browse term
  disease 19051
    disease of anatomical entity 18384
      nervous system disease 14258
        peripheral nervous system disease 4261
          neuropathy 4047
            neuromuscular disease 3190
              muscular disease 2212
                muscle tissue disease 1347
                  atrophic muscular disease 671
                    Brody myopathy 667
                      muscular dystrophy 651
                        limb-girdle muscular dystrophy 232
                          inclusion body myopathy with Paget disease of bone and frontotemporal dementia 6
                            inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 1
paths to the root