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ONTOLOGY REPORT - ANNOTATIONS


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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Path 1
Term Annotations click to browse term
  disease 14924
    Developmental Diseases 7770
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7092
        genetic disease 6457
          nemaline myopathy 5 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 5 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.