ONTOLOGY REPORT - ANNOTATIONS


Term:nemaline myopathy 10
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7096
        genetic disease 6457
          nemaline myopathy 10 1
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14092
      nervous system disease 9154
        peripheral nervous system disease 2018
          neuropathy 1839
            neuromuscular disease 1413
              muscular disease 909
                muscle tissue disease 636
                  myopathy 523
                    congenital structural myopathy 134
                      nemaline myopathy 57
                        nemaline myopathy 10 1
paths to the root

NHLBI Logo

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