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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal dominant Emery-Dreifuss muscular dystrophy 4
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Accession:DOID:0070249 term browser browse the term
Definition:An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of SYNE1 on chromosome 6q25.2. (DO)
Synonyms:exact_synonym: EDMD4;   Emery-Dreifuss Muscular Dystrophy 4;   Emery-Dreifuss muscular dystrophy 4 with variable features
 primary_id: MESH:C567831
 alt_id: DOID:9001241;   OMIM:612998;   RDO:0012054
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autosomal dominant Emery-Dreifuss muscular dystrophy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Syne1 spectrin repeat containing, nuclear envelope 1 JBrowse link 10 5,020,192 5,550,692 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12526
    disease of anatomical entity 12146
      musculoskeletal system disease 3880
        muscular disease 949
          atrophic muscular disease 273
            muscular dystrophy 271
              Emery-Dreifuss muscular dystrophy 35
                autosomal dominant Emery-Dreifuss muscular dystrophy 4 1
Path 2
Term Annotations click to browse term
  disease 12526
    disease of anatomical entity 12146
      nervous system disease 9643
        peripheral nervous system disease 2095
          neuropathy 1930
            neuromuscular disease 1508
              muscular disease 949
                muscle tissue disease 679
                  myopathy 546
                    muscular dystrophy 271
                      Emery-Dreifuss muscular dystrophy 35
                        autosomal dominant Emery-Dreifuss muscular dystrophy 4 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.