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ONTOLOGY REPORT - ANNOTATIONS


Term:nemaline myopathy 2
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Accession:DOID:0110928 term browser browse the term
Definition:A nemaline myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23. (DO)
Synonyms:exact_synonym: NEM2;   nemaline myopathy 2, autosomal recessive;   nemaline myopathy caused by mutation in the nebulin gene;   nemaline myopathy, NEB-related
 primary_id: MESH:C538349
 alt_id: OMIA:002137;   OMIM:256030;   RDO:0004317
For additional species annotation, visit the Alliance of Genome Resources.


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nemaline myopathy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Neb nebulin JBrowse link 3 37,658,081 37,855,843 RGD:7240710
RGD:8554872
G Rif1 replication timing regulatory factor 1 JBrowse link 3 37,599,540 37,648,818 RGD:8554872
G Zfyve26 zinc finger FYVE-type containing 26 JBrowse link 6 102,409,235 102,472,962 RGD:8554872

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  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          nemaline myopathy 2 3
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 2 3
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