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

ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive limb-girdle muscular dystrophy type 2G
go back to main search page
Accession:DOID:0110281 term browser browse the term
Definition:An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding telethonin (TCAP). (DO)
Synonyms:exact_synonym: LGMD2G;   limb-girdle muscular dystrophy due to telethonin deficiency;   muscular dystrophy, limb-girdle, type 2G
 primary_id: MESH:C566599
 alt_id: OMIM:601954;   RDO:0014912
 xref: ORDO:34514
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
autosomal recessive limb-girdle muscular dystrophy type 2G term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tcap titin-cap JBrowse link 10 86,337,705 86,338,414 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15489
    disease of anatomical entity 14790
      musculoskeletal system disease 4321
        muscular disease 1001
          atrophic muscular disease 281
            muscular dystrophy 279
              limb-girdle muscular dystrophy 121
                autosomal recessive limb-girdle muscular dystrophy 79
                  autosomal recessive limb-girdle muscular dystrophy type 2G 1
Path 2
Term Annotations click to browse term
  disease 15489
    disease of anatomical entity 14790
      nervous system disease 10147
        peripheral nervous system disease 2164
          neuropathy 1988
            neuromuscular disease 1558
              muscular disease 1001
                muscle tissue disease 694
                  myopathy 558
                    muscular dystrophy 279
                      limb-girdle muscular dystrophy 121
                        autosomal recessive limb-girdle muscular dystrophy 79
                          autosomal recessive limb-girdle muscular dystrophy type 2G 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.