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
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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
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  disease 14875
    Developmental Diseases 7711
      congenital structural myopathy 134
        myofibrillar myopathy 54
          myofibrillar myopathy 5 2
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        peripheral nervous system disease 2009
          neuropathy 1830
            neuromuscular disease 1411
              muscular disease 908
                muscle tissue disease 636
                  myopathy 523
                    congenital structural myopathy 134
                      myofibrillar myopathy 54
                        myofibrillar myopathy 5 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.