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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 16096
    syndrome 6993
      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 16096
    disease of anatomical entity 15346
      nervous system disease 10864
        peripheral nervous system disease 2471
          neuropathy 2292
            neuromuscular disease 1774
              muscular disease 1196
                muscle tissue disease 809
                  myopathy 665
                    myositis 78
                      inclusion body myositis 24
                        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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.