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ONTOLOGY REPORT - ANNOTATIONS


Term:nemaline myopathy 10
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Accession:DOID:0110931 term browser browse the term
Definition:An autosomal recessive severe congenital myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties. (OMIM)
Synonyms:exact_synonym: NEM10
 primary_id: OMIM:616165
 alt_id: RDO:9001501
For additional species annotation, visit the Alliance of Genome Resources.


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nemaline myopathy 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmod3 leiomodin 3 JBrowse link 4 129,604,378 129,619,136 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          nemaline myopathy 10 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 10 1
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