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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:7240710

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Term Annotations click to browse term
  disease 14924
    Developmental Diseases 7770
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7092
        genetic disease 6457
          nemaline myopathy 11 1
Path 2
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      nervous system disease 9141
        peripheral nervous system disease 2004
          neuropathy 1820
            neuromuscular disease 1392
              muscular disease 887
                muscle tissue disease 613
                  myopathy 494
                    congenital structural myopathy 129
                      nemaline myopathy 56
                        nemaline myopathy 11 1
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