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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 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
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:615424
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 7:144,865,302...144,871,592
Ensembl chr 7:144,865,608...144,871,585
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      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 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        peripheral nervous system disease 2425
          neuropathy 2243
            neuromuscular disease 1763
              muscular disease 1168
                muscle tissue disease 792
                  myopathy 644
                    myositis 79
                      inclusion body myositis 25
                        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
paths to the root