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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 15603
    disease of anatomical entity 14934
      musculoskeletal system disease 4302
        muscular disease 968
          MYOPATHY, SCAPULOHUMEROPERONEAL 1
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        peripheral nervous system disease 2138
          neuropathy 1960
            neuromuscular disease 1530
              muscular disease 968
                muscle tissue disease 689
                  myopathy 556
                    muscular dystrophy 278
                      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.