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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal dominant Emery-Dreifuss muscular dystrophy 5
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Accession:DOID:0070250 term browser browse the term
Definition:An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of SYNE2 on chromosome 14q23.2. (DO)
Synonyms:exact_synonym: EDMD5;   Emery-Dreifuss Muscular Dystrophy 5
 primary_id: MESH:C567830
 alt_id: DOID:9000320;   OMIM:612999;   RDO:0012053
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autosomal dominant Emery-Dreifuss muscular dystrophy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Syne2 spectrin repeat containing nuclear envelope protein 2 JBrowse link 6 98,884,269 99,153,551 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 14927
      musculoskeletal system disease 4256
        muscular disease 941
          atrophic muscular disease 277
            muscular dystrophy 275
              Emery-Dreifuss muscular dystrophy 35
                autosomal dominant Emery-Dreifuss muscular dystrophy 5 1
Path 2
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 0
      nervous system disease 10203
        peripheral nervous system disease 2112
          neuropathy 1934
            neuromuscular disease 1504
              muscular disease 941
                muscle tissue disease 668
                  myopathy 547
                    muscular dystrophy 275
                      Emery-Dreifuss muscular dystrophy 35
                        autosomal dominant Emery-Dreifuss muscular dystrophy 5 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.