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ONTOLOGY REPORT - ANNOTATIONS


Term:scapuloperoneal myopathy
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Accession:DOID:0060253 term browser browse the term
Definition:A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm. (DO)
Synonyms:exact_synonym: scapuloperoneal muscular dystrophy;   scapuloperoneal syndrome, myopathic type
 primary_id: MESH:C536624
 alt_id: RDO:0002260
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scapuloperoneal myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fhl1 four and a half LIM domains 1 JBrowse link X 159,112,516 159,172,528 RGD:13592920
G Myh6 myosin heavy chain 6 JBrowse link 15 33,605,653 33,629,730 RGD:8554872
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
RGD:13592920
MYH7-Related Scapuloperoneal Myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:7240710
RGD:8554872
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 159,112,516 159,172,528 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      musculoskeletal system disease 4281
        muscular disease 958
          myopathy 551
            muscular dystrophy 276
              scapuloperoneal myopathy 3
                MYH7-Related Scapuloperoneal Myopathy 1
                X-Linked Dominant Scapuloperoneal Myopathy 1
Path 2
Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      nervous system disease 10224
        peripheral nervous system disease 2126
          neuropathy 1949
            neuromuscular disease 1521
              muscular disease 958
                muscle tissue disease 685
                  atrophic muscular disease 278
                    muscular dystrophy 276
                      Emery-Dreifuss muscular dystrophy 35
                        scapuloperoneal myopathy 3
                          MYH7-Related Scapuloperoneal Myopathy 1
                          X-Linked Dominant Scapuloperoneal Myopathy 1
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.