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ONTOLOGY REPORT - ANNOTATIONS


Term:MYOPATHY, SCAPULOHUMEROPERONEAL
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Accession:DOID:9002252 term browser browse the term
Definition:An autosomal dominant muscle disorder characterized by slowly progressive muscle weakness and atrophy affecting both proximal and distal muscles of the upper and lower limbs. (OMIM)
Synonyms:exact_synonym: SHPM
 primary_id: OMIM:616852;   RDO:9000369
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MYOPATHY, SCAPULOHUMEROPERONEAL term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acta1 actin, alpha 1, skeletal muscle JBrowse link 19 56,674,072 56,677,084 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      musculoskeletal system disease 4326
        muscular disease 1002
          MYOPATHY, SCAPULOHUMEROPERONEAL 1
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      nervous system disease 10167
        peripheral nervous system disease 2164
          neuropathy 1988
            neuromuscular disease 1559
              muscular disease 1002
                muscle tissue disease 695
                  myopathy 559
                    muscular dystrophy 279
                      MYOPATHY, SCAPULOHUMEROPERONEAL 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.