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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 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 the HNRNPA1 gene 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 OMIM
ClinVar		 PMID:20116073 PMID:23455423 PMID:25616961 PMID:25741868 NCBI chr 7:134,375,318...134,381,610
Ensembl chr 7:134,375,150...134,381,609 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      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 3 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        peripheral nervous system disease 4124
          neuropathy 3907
            neuromuscular disease 3059
              muscular disease 2148
                muscle tissue disease 1294
                  myopathy 1008
                    myositis 88
                      inclusion body myositis 30
                        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 3 1
paths to the root