ONTOLOGY REPORT - ANNOTATIONS


Term:Congenital Neuromuscular Disease, with Uniform Type 1 Fiber
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Accession:DOID:9005001 term browser browse the term
Synonyms:exact_synonym: CNMDU1
 primary_id: MESH:C567162
 alt_id: RDO:0015310
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Congenital Neuromuscular Disease, with Uniform Type 1 Fiber term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7774
      congenital structural myopathy 134
        central core myopathy 6
          Congenital Neuromuscular Disease, with Uniform Type 1 Fiber 1
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14092
      nervous system disease 9154
        peripheral nervous system disease 2018
          neuropathy 1839
            neuromuscular disease 1413
              muscular disease 909
                muscle tissue disease 636
                  myopathy 523
                    congenital structural myopathy 134
                      central core myopathy 6
                        Congenital Neuromuscular Disease, with Uniform Type 1 Fiber 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.