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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
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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

Term paths to the root
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 2 2
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 2 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.