ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive Emery-Dreifuss muscular dystrophy 3
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Accession:DOID:0070248 term browser browse the term
Definition:An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of LMNA on chromosome 1q22. (DO)
Synonyms:exact_synonym: EDMD3;   atypical Emery-Dreifuss muscular dystrophy, autosomal recessive
 primary_id: MESH:C567633
 alt_id: OMIM:616516;   RDO:0012021
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autosomal recessive Emery-Dreifuss muscular dystrophy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      musculoskeletal system disease 3984
        muscular disease 908
          atrophic muscular disease 243
            muscular dystrophy 242
              Emery-Dreifuss muscular dystrophy 15
                autosomal recessive Emery-Dreifuss muscular dystrophy 3 1
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
                    muscular dystrophy 242
                      Emery-Dreifuss muscular dystrophy 15
                        autosomal recessive Emery-Dreifuss muscular dystrophy 3 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.