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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: OMIM:612999
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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
Term Annotations click to browse term
  disease 16017
    Developmental Diseases 9307
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8132
        genetic disease 7652
          monogenic disease 5403
            autosomal genetic disease 4361
              autosomal dominant disease 2728
                autosomal dominant Emery-Dreifuss muscular dystrophy 5 1
Path 2
Term Annotations click to browse term
  disease 16017
    disease of anatomical entity 15273
      nervous system disease 10762
        peripheral nervous system disease 2363
          neuropathy 2179
            neuromuscular disease 1712
              muscular disease 1126
                muscle tissue disease 757
                  myopathy 611
                    muscular dystrophy 306
                      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.