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

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Path 1
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  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        genetic disease 5920
          muscular dystrophy 242
            Emery-Dreifuss muscular dystrophy 15
              autosomal dominant Emery-Dreifuss muscular dystrophy 5 1
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        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 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.