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ONTOLOGY REPORT - ANNOTATIONS


Term:myofibrillar myopathy 5
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Accession:DOID:0080096 term browser browse the term
Definition:A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32. (DO)
Synonyms:exact_synonym: FLNB-Related Disorders;   MFM, filamin C-related;   MFM5;   filamin C-related myofibrillar myopathy;   filaminopathy;   filaminopathy, autosomal dominant
 primary_id: MESH:C537932
 alt_id: OMIM:609524;   RDO:0003849
For additional species annotation, visit the Alliance of Genome Resources.


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myofibrillar myopathy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flnb filamin B JBrowse link 15 18,750,152 18,883,019 RGD:8554872
G Flnc filamin C JBrowse link 4 56,710,934 56,738,779 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      congenital structural myopathy 134
        myofibrillar myopathy 53
          myofibrillar myopathy 5 2
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        peripheral nervous system disease 1998
          neuropathy 1823
            neuromuscular disease 1406
              muscular disease 902
                muscle tissue disease 631
                  myopathy 521
                    congenital structural myopathy 134
                      myofibrillar myopathy 53
                        myofibrillar myopathy 5 2
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