ONTOLOGY REPORT - ANNOTATIONS


Term:nemaline myopathy 4
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Accession:DOID:0110932 term browser browse the term
Definition:A nemaline myopathy that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13. (DO)
Synonyms:exact_synonym: Cap Myopathy, Tpm2-Related;   NEM4;   Nemaline myopathy caused by mutation in the tropomyosin 2 gene;   nemaline myopathy 4, autosomal dominant
 narrow_synonym: CAP MYOPATHY 2;   CAPM2
 primary_id: MESH:C538351
 alt_id: OMIM:609285;   RDO:0004319
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nemaline myopathy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tpm2 tropomyosin 2 JBrowse link 5 59,016,616 59,025,971 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7096
        genetic disease 6457
          nemaline myopathy 4 1
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14092
      nervous system disease 9154
        peripheral nervous system disease 2018
          neuropathy 1839
            neuromuscular disease 1413
              muscular disease 909
                muscle tissue disease 636
                  myopathy 523
                    congenital structural myopathy 134
                      nemaline myopathy 57
                        nemaline myopathy 4 1
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