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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal dominant Emery-Dreifuss muscular dystrophy 7
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Accession:DOID:0070252 term browser browse the term
Definition:An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of TMEM43 on chromosome 3p25.1. (DO)
Synonyms:exact_synonym: EDMD7;   Emery-Dreifuss muscular dystrophy 7, AD
 primary_id: OMIM:614302
 alt_id: RDO:9000286
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autosomal dominant Emery-Dreifuss muscular dystrophy 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem43 transmembrane protein 43 JBrowse link 4 123,118,468 123,133,610 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      musculoskeletal system disease 4271
        muscular disease 957
          atrophic muscular disease 279
            muscular dystrophy 277
              Emery-Dreifuss muscular dystrophy 35
                autosomal dominant Emery-Dreifuss muscular dystrophy 7 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        peripheral nervous system disease 2125
          neuropathy 1948
            neuromuscular disease 1520
              muscular disease 957
                muscle tissue disease 684
                  myopathy 549
                    muscular dystrophy 277
                      Emery-Dreifuss muscular dystrophy 35
                        autosomal dominant Emery-Dreifuss muscular dystrophy 7 1
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