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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:myofibrillar myopathy 6
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Accession:DOID:0080097 term browser browse the term
Definition:A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26. (DO)
Synonyms:exact_synonym: BAG3-related myofibrillar myopathy;   MFM6
 broad_synonym: BAG3-RELATED CONDITION
 primary_id: MESH:C567843
 alt_id: OMIM:612954;   RDO:0009733;   RDO:0015757


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myofibrillar myopathy 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 6 | ClinVar Annotator: match by term: Myofibrillar myopathy, BAG3-related OMIM
ClinVar		 PMID:2159883 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19085932 More... NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858 		JBrowse link
G Cd46 CD46 molecule ISO ClinVar Annotator: match by term: Myofibrillar myopathy 6 ClinVar PMID:25741868 PMID:28492532 NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    physical disorder 4965
      congenital structural myopathy 132
        myofibrillar myopathy 63
          myofibrillar myopathy 6 2
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        peripheral nervous system disease 4122
          neuropathy 3906
            neuromuscular disease 3059
              muscular disease 2148
                muscle tissue disease 1294
                  myopathy 1008
                    congenital myopathy 239
                      congenital structural myopathy 132
                        myofibrillar myopathy 63
                          myofibrillar myopathy 6 2
paths to the root