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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. Many patients present antenatally with decreased fetal movements, and most die of respiratory failure in early infancy. NEM10 is caused by homozygous or compound heterozygous mutation in the LMOD3 gene on chromosome 3p14. (OMIM)
Synonyms:exact_synonym: NEM10
 primary_id: OMIM:616165
 alt_id: RDO:9001501
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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 15619
    Developmental Diseases 8737
      congenital structural myopathy 129
        nemaline myopathy 56
          nemaline myopathy 10 1
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 10 1
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