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ONTOLOGY REPORT - ANNOTATIONS


Term:nemaline myopathy 11
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Accession:DOID:0110933 term browser browse the term
Definition:An autosomal recessive congenital myopathy characterized by onset of slowly progressive muscle weakness in the first decade, followed by gait difficulties due to proximal muscle weakness and atrophy mainly affecting the lower limbs and neck. Muscle biopsy shows nemaline bodies. (OMIM)
Synonyms:exact_synonym: NEM11;   nemaline myopathy 11, autosomal recessive
 primary_id: OMIM:617336
 alt_id: RDO:9001717
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nemaline myopathy 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mypn myopalladin JBrowse link 20 26,988,820 27,074,106 RGD:8554872
RGD:11554173
RGD:7240710

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Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          nemaline myopathy 11 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        peripheral nervous system disease 1998
          neuropathy 1823
            neuromuscular disease 1406
              muscular disease 902
                muscle tissue disease 631
                  myopathy 521
                    congenital structural myopathy 134
                      nemaline myopathy 57
                        nemaline myopathy 11 1
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