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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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Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      congenital structural myopathy 129
        nemaline myopathy 56
          nemaline myopathy 7 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        peripheral nervous system disease 2125
          neuropathy 1948
            neuromuscular disease 1520
              muscular disease 957
                muscle tissue disease 684
                  myopathy 549
                    congenital structural myopathy 129
                      nemaline myopathy 56
                        nemaline myopathy 7 1
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