Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:nemaline myopathy 9
go back to main search page
Accession:DOID:0110929 term browser browse the term
Definition:A nemaline myopathy characterized by onset in early infancy of muscle weakness with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL41 gene on chromosome 2q31. (DO)
Synonyms:exact_synonym: NEM9
 primary_id: OMIM:615731
 alt_id: RDO:9001042
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
nemaline myopathy 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Klhl41 kelch-like family member 41 JBrowse link 3 55,910,177 55,923,303 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15578
    Developmental Diseases 8717
      congenital structural myopathy 129
        nemaline myopathy 56
          nemaline myopathy 9 1
Path 2
Term Annotations click to browse term
  disease 15578
    disease of anatomical entity 14907
      nervous system disease 10189
        peripheral nervous system disease 2108
          neuropathy 1930
            neuromuscular disease 1502
              muscular disease 940
                muscle tissue disease 666
                  myopathy 545
                    congenital structural myopathy 129
                      nemaline myopathy 56
                        nemaline myopathy 9 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.