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ONTOLOGY REPORT - ANNOTATIONS


Term:facioscapulohumeral muscular dystrophy
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Accession:DOID:11727 term browser browse the term
Definition:An autosomal dominant degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles. (Neuromuscul Disord 1997;7(1):55-62; Adams et al., Principles of Neurology, 6th ed, p1420)
Synonyms:exact_synonym: FMD;   FSH Muscular Dystrophy;   FSHD;   Facio-Scapulo-Humeral Dystrophy;   Facioscapulohumeral Atrophies;   Facioscapulohumeral Atrophy;   Facioscapulohumeral Muscular Dystrophies;   Facioscapulohumeral Type Progressive Muscular Dystrophy;   Facioscapuloperoneal Muscular Dystrophy;   Landouzy Dejerine Dystrophy;   Landouzy Dejerine muscular dystrophy;   Landouzy-Dejerine Dystrophies
 primary_id: MESH:D020391;   RDO:0001961
 xref: GARD:9941;   NCI:C84704
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facioscapulohumeral muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acan aggrecan JBrowse link 1 140,762,758 140,824,441 RGD:11554173
G Cdkn1a cyclin-dependent kinase inhibitor 1A JBrowse link 20 6,348,422 6,358,864 RGD:11554173
G Col3a1 collagen type III alpha 1 chain JBrowse link 9 52,023,295 52,059,221 RGD:11554173
G Dcn decorin JBrowse link 7 38,742,250 38,782,282 RGD:11554173
G Dux4 double homeobox 4 JBrowse link 16 3,754,968 3,766,532 RGD:11554173
G Eln elastin JBrowse link 12 24,978,478 25,021,864 RGD:11554173
G Fat1 FAT atypical cadherin 1 JBrowse link 16 50,372,150 50,501,716 RGD:13592920
G Gstt2 glutathione S-transferase, theta 2 JBrowse link 20 13,760,810 13,764,481 RGD:11554173
G Hspa1b heat shock protein family A (Hsp70) member 1B JBrowse link 20 4,877,638 4,880,112 RGD:11554173
G Hspa4 heat shock protein family A (Hsp70) member 4 JBrowse link 10 38,601,624 38,642,397 RGD:11554173
G Large1 LARGE xylosyl- and glucuronyltransferase 1 JBrowse link 19 12,481,563 12,945,320 RGD:13592920
G Lum lumican JBrowse link 7 38,820,058 38,826,862 RGD:11554173
G Slc25a4 solute carrier family 25 member 4 JBrowse link 16 49,266,903 49,270,698 RGD:1580621
facioscapulohumeral muscular dystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Frg1 FSHD region gene 1 JBrowse link 16 53,957,858 53,978,865 RGD:11554173
facioscapulohumeral muscular dystrophy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Emilin2 elastin microfibril interfacer 2 JBrowse link 9 119,594,049 119,653,675 RGD:8554872
G Lpin2 lipin 2 JBrowse link 9 119,517,101 119,591,533 RGD:8554872
G Myom1 myomesin 1 JBrowse link 9 119,353,840 119,469,196 RGD:8554872
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 JBrowse link 9 119,675,750 119,818,620 RGD:7240710
RGD:8554872
RGD:11554173
Scapulohumeral Muscular Dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 JBrowse link 9 119,675,750 119,818,620 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    disease of anatomical entity 14933
      musculoskeletal system disease 4326
        muscular disease 1000
          atrophic muscular disease 281
            muscular dystrophy 279
              facioscapulohumeral muscular dystrophy 18
                Myopathy with Storage of Glycoproteins and Glycosaminoglycans 0
                Scapulohumeral Muscular Dystrophy 1
                facioscapulohumeral muscular dystrophy 1 1
                facioscapulohumeral muscular dystrophy 2 4
Path 2
Term Annotations click to browse term
  disease 15602
    disease of anatomical entity 14933
      nervous system disease 10260
        peripheral nervous system disease 2163
          neuropathy 1987
            neuromuscular disease 1558
              muscular disease 1000
                muscle tissue disease 693
                  myopathy 559
                    muscular dystrophy 279
                      facioscapulohumeral muscular dystrophy 18
                        Myopathy with Storage of Glycoproteins and Glycosaminoglycans 0
                        Scapulohumeral Muscular Dystrophy 1
                        facioscapulohumeral muscular dystrophy 1 1
                        facioscapulohumeral muscular dystrophy 2 4
paths to the root

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