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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          nemaline myopathy 7 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 7 1
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