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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive centronuclear myopathy
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Accession:DOID:0111216 term browser browse the term
Definition:A centronuclear myopathy that has_material_basis_in autosomal recessive inheritance. (DO)
Synonyms:exact_synonym: AR-CNM;   centronuclear myopathy, recessive;   myotubular myopathy, autosomal recessive
 primary_id: MESH:C562934
 alt_id: OMIA:001660;   RDO:0008403;   RDO:0012436
 xref: GARD:12718;   ORDO:169186
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal recessive centronuclear myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bin1 bridging integrator 1 JBrowse link 18 25,163,575 25,222,139 RGD:8554872
RGD:11554173
G Speg striated muscle enriched protein kinase JBrowse link 9 82,571,333 82,628,684 RGD:11554173
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
centronuclear myopathy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bin1 bridging integrator 1 JBrowse link 18 25,163,575 25,222,139 RGD:7240710
centronuclear myopathy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Speg striated muscle enriched protein kinase JBrowse link 9 82,571,333 82,628,684 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    Developmental Diseases 8774
      congenital structural myopathy 129
        autosomal recessive centronuclear myopathy 3
          centronuclear myopathy 2 1
          centronuclear myopathy 5 1
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      nervous system disease 10242
        peripheral nervous system disease 2134
          neuropathy 1956
            neuromuscular disease 1530
              muscular disease 968
                muscle tissue disease 689
                  myopathy 556
                    centronuclear myopathy 14
                      autosomal recessive centronuclear myopathy 3
                        centronuclear myopathy 2 1
                        centronuclear myopathy 5 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.