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ONTOLOGY REPORT - ANNOTATIONS


Term:Emery-Dreifuss muscular dystrophy
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Accession:DOID:11726 term browser browse the term
Definition:A heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The disease is characterized by MUSCULAR ATROPHY; MUSCLE WEAKNESS; CONTRACTURE of the elbows; ACHILLES TENDON; and posterior cervical muscles; with or without cardiac features. There are several INHERITANCE PATTERNS including X-linked (X CHROMOSOME), autosomal dominant, and autosomal recessive gene mutations.
Synonyms:exact_synonym: BENIGN SCAPULOPERONEAL MUSCULAR DYSTROPHY WITH CARDIOMYOPATHY;   Benign Scapuloperoneal Muscular Dystrophy with Early Contractures;   EDMD;   Emery Dreifuss syndrome;   Emery-Dreifuss Type Muscular Dystrophy;   HUMEROPERONEAL NEUROMUSCULAR DISEASE;   X-linked Emery-Dreifuss muscular dystrophy;   X-linked scapuloperoneal syndrome;   autosomal dominant Emery Dreifuss muscular dystrophy;   autosomal recessive Emery Dreifuss muscular dystrophy;   scapuloilioperoneal atrophy with cardiopathy;   tardive muscular dystrophy, Dreifuss-Emery type, with contractures
 primary_id: MESH:D020389
 alt_id: RDO:0001018
 xref: GARD:6329;   NCI:C84685;   OMIM:PS310300;   ORDO:261
For additional species annotation, visit the Alliance of Genome Resources.


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Emery-Dreifuss muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Emd emerin JBrowse link X 74,254,672 74,261,563 RGD:1598907
RGD:11554173
RGD:8554872
G Esr1 estrogen receptor 1 (alpha) JBrowse link 10 4,611,989 5,005,633 RGD:8554872
G Gtpbp1 GTP binding protein 1 JBrowse link 15 79,690,896 79,721,479 RGD:8554872
G Lmna lamin A JBrowse link 3 88,481,148 88,509,932 RGD:1580516
RGD:8554872
RGD:11554173
RGD:13592920
G Sun1 Sad1 and UNC84 domain containing 1 JBrowse link 5 139,200,556 139,249,839 RGD:10044242
RGD:8554872
G Sun2 Sad1 and UNC84 domain containing 2 JBrowse link 15 79,724,068 79,742,536 RGD:8554872
G Syne1 spectrin repeat containing, nuclear envelope 1 JBrowse link 10 5,020,192 5,550,692 RGD:8554872
RGD:11554173
RGD:13592920
RGD:13209003
G Syne2 spectrin repeat containing, nuclear envelope 2 JBrowse link 12 75,818,318 76,110,928 RGD:8554872
RGD:11554173
G Tmem43 transmembrane protein 43 JBrowse link 6 91,473,751 91,488,458 RGD:11554173
G Zmpste24 zinc metallopeptidase, STE24 JBrowse link 4 121,059,237 121,098,249 RGD:13592920
autosomal dominant Emery-Dreifuss muscular dystrophy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmna lamin A JBrowse link 3 88,481,148 88,509,932 RGD:8554872
RGD:7240710
RGD:2306094
RGD:12791273
RGD:11062274
RGD:12791020
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
autosomal dominant Emery-Dreifuss muscular dystrophy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Syne2 spectrin repeat containing, nuclear envelope 2 JBrowse link 12 75,818,318 76,110,928 RGD:8554872
RGD:7240710
autosomal dominant Emery-Dreifuss muscular dystrophy 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem43 transmembrane protein 43 JBrowse link 6 91,473,751 91,488,458 RGD:7240710
RGD:8554872
autosomal recessive Emery-Dreifuss muscular dystrophy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmna lamin A JBrowse link 3 88,481,148 88,509,932 RGD:8554872
RGD:7240710
MYH7-Related Scapuloperoneal Myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh7 myosin, heavy polypeptide 7, cardiac muscle, beta JBrowse link 14 54,970,684 54,994,549 RGD:7240710
RGD:8554872
scapuloperoneal myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fhl1 four and a half LIM domains 1 JBrowse link X 56,731,720 56,793,346 RGD:13592920
G Myh6 myosin, heavy polypeptide 6, cardiac muscle, alpha JBrowse link 14 54,941,921 54,968,017 RGD:8554872
G Myh7 myosin, heavy polypeptide 7, cardiac muscle, beta JBrowse link 14 54,970,684 54,994,549 RGD:8554872
RGD:13592920
X-Linked Dominant Scapuloperoneal Myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fhl1 four and a half LIM domains 1 JBrowse link X 56,731,720 56,793,346 RGD:7240710
RGD:8554872
X-linked Emery-Dreifuss muscular dystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Emd emerin JBrowse link X 74,254,672 74,261,563 RGD:8554872
RGD:7240710
G Flna filamin, alpha JBrowse link X 74,223,461 74,249,852 RGD:8554872
X-linked Emery-Dreifuss muscular dystrophy 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fhl1 four and a half LIM domains 1 JBrowse link X 56,731,720 56,793,346 RGD:7240710
RGD:8554872
G Ttn titin JBrowse link 2 76,703,980 76,982,557 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12250
    disease of anatomical entity 11853
      musculoskeletal system disease 3626
        muscular disease 881
          atrophic muscular disease 224
            muscular dystrophy 222
              Emery-Dreifuss muscular dystrophy 15
                X-Linked Dominant Scapuloperoneal Myopathy 1
                X-linked Emery-Dreifuss muscular dystrophy 1 2
                X-linked Emery-Dreifuss muscular dystrophy 6 2
                autosomal dominant Emery-Dreifuss muscular dystrophy 2 1
                autosomal dominant Emery-Dreifuss muscular dystrophy 4 1
                autosomal dominant Emery-Dreifuss muscular dystrophy 5 1
                autosomal dominant Emery-Dreifuss muscular dystrophy 7 1
                autosomal recessive Emery-Dreifuss muscular dystrophy 3 1
                scapuloperoneal myopathy + 3
Path 2
Term Annotations click to browse term
  disease 12250
    disease of anatomical entity 11853
      nervous system disease 9292
        peripheral nervous system disease 1980
          neuropathy 1811
            neuromuscular disease 1393
              muscular disease 881
                muscle tissue disease 612
                  myopathy 494
                    muscular dystrophy 222
                      Emery-Dreifuss muscular dystrophy 15
                        X-Linked Dominant Scapuloperoneal Myopathy 1
                        X-linked Emery-Dreifuss muscular dystrophy 1 2
                        X-linked Emery-Dreifuss muscular dystrophy 6 2
                        autosomal dominant Emery-Dreifuss muscular dystrophy 2 1
                        autosomal dominant Emery-Dreifuss muscular dystrophy 4 1
                        autosomal dominant Emery-Dreifuss muscular dystrophy 5 1
                        autosomal dominant Emery-Dreifuss muscular dystrophy 7 1
                        autosomal recessive Emery-Dreifuss muscular dystrophy 3 1
                        scapuloperoneal myopathy + 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.