ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive limb-girdle muscular dystrophy type 2G
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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
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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 14920
    disease of anatomical entity 14086
      musculoskeletal system disease 3997
        muscular disease 908
          atrophic muscular disease 245
            muscular dystrophy 244
              limb-girdle muscular dystrophy 115
                autosomal recessive limb-girdle muscular dystrophy 99
                  autosomal recessive limb-girdle muscular dystrophy type 2G 1
Path 2
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      nervous system disease 9150
        peripheral nervous system disease 2017
          neuropathy 1838
            neuromuscular disease 1413
              muscular disease 908
                muscle tissue disease 635
                  myopathy 522
                    muscular dystrophy 244
                      limb-girdle muscular dystrophy 115
                        autosomal recessive limb-girdle muscular dystrophy 99
                          autosomal recessive limb-girdle muscular dystrophy type 2G 1
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