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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 10
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Accession:DOID:0112108 term browser browse the term
Definition:A myofibrillar myopathy characterized by onset of muscle pain, cramping, and exercise fatigue in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in the SVIL gene on chromosome 10p11.23. (DO)
Synonyms:exact_synonym: MFM10
 primary_id: MIM:619040


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myofibrillar myopathy 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Svil supervillin ISO ClinVar Annotator: match by term: Myofibrillar myopathy 10 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32779703 NCBI chr17:52,648,502...52,844,114
Ensembl chr17:52,648,502...52,793,404 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    physical disorder 5180
      congenital structural myopathy 141
        myofibrillar myopathy 65
          myofibrillar myopathy 10 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14333
        peripheral nervous system disease 4267
          neuropathy 4052
            neuromuscular disease 3198
              muscular disease 2219
                muscle tissue disease 1347
                  myopathy 1039
                    congenital myopathy 245
                      congenital structural myopathy 141
                        myofibrillar myopathy 65
                          myofibrillar myopathy 10 1
paths to the root