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ONTOLOGY REPORT - ANNOTATIONS


Term:nemaline myopathy 7
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Accession:DOID:0110934 term browser browse the term
Definition:A nemaline myopathy characterized by very early onset of hypotonia and delayed motor development that has_material_basis_in homozygous mutation in the CFL2 gene on chromosome 14q13. (DO)
Synonyms:exact_synonym: NEM7;   nemaline myopathy 7, autosomal recessive
 primary_id: MESH:C565198
 alt_id: OMIM:610687;   RDO:0013909
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nemaline myopathy 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cfl2 cofilin 2 JBrowse link 6 75,759,140 75,763,185 RGD:7240710
RGD:8554872

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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 7 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 7 1
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