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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 5, Amish type;   nemaline myopathy, 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 Tnni3 troponin I3, cardiac type JBrowse link 1 72,882,806 72,886,490 RGD:8554872
G Tnnt1 troponin T1, slow skeletal type JBrowse link 1 72,889,270 72,899,629 RGD:737736
RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      congenital structural myopathy 129
        nemaline myopathy 56
          nemaline myopathy 5 2
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 5 2
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