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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 SVIL on chromosome 10p11.23. (DO)
Synonyms:exact_synonym: MFM10
 primary_id: OMIM:619040
For additional species annotation, visit the Alliance of Genome Resources.



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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:32779703 NCBI chr17:52,648,502...52,844,114
Ensembl chr17:52,648,502...52,793,404
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    physical disorder 4194
      congenital structural myopathy 170
        myofibrillar myopathy 63
          myofibrillar myopathy 10 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        peripheral nervous system disease 3018
          neuropathy 2804
            neuromuscular disease 2223
              muscular disease 1453
                muscle tissue disease 950
                  myopathy 779
                    congenital structural myopathy 170
                      myofibrillar myopathy 63
                        myofibrillar myopathy 10 1
paths to the root