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Term:nemaline myopathy 5
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Accession:DOID:0110936 term browser browse the term
Definition:A nemaline myopathy that has_material_basis_in homozygous mutation in the TNNT1 gene on chromosome 19q13. (DO)
Synonyms:exact_synonym: ANM;   Amish nemaline myopathy;   NEM5;   Nemaline Myopathy, Amish Type;   nemaline myopathy 5, Amish type;   nemaline myopathy, caused by mutation in the troponin t1 gene
 primary_id: MESH:C538397
 alt_id: OMIM:605355;   RDO:0004374
For additional species annotation, visit the Alliance of Genome Resources.


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nemaline myopathy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnnt1 troponin T1, slow skeletal type JBrowse link 1 72,889,270 72,899,629 RGD:737736
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 5 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 5 1
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