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 2T
go back to main search page
Accession:DOID:0110294 term browser browse the term
Definition:An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene encoding the beta subunit of GDP-mannose pyrophosphorylase on chromosome 3p21. (DO)
Synonyms:exact_synonym: LGMD2T;   MDDGC14;   muscular dystrophy limb-girdle type 2T;   muscular dystrophy-dystroglycanopathy (limb-girdle) type C14;   muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related
 primary_id: OMIM:615352
 alt_id: RDO:9000913
 xref: ORDO:363623
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 2T term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gmppb GDP-mannose pyrophosphorylase B JBrowse link 8 116,826,251 116,856,159 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      musculoskeletal system disease 4326
        muscular disease 1002
          atrophic muscular disease 281
            muscular dystrophy 279
              limb-girdle muscular dystrophy 121
                autosomal recessive limb-girdle muscular dystrophy 105
                  autosomal recessive limb-girdle muscular dystrophy type 2T 1
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      nervous system disease 10167
        peripheral nervous system disease 2164
          neuropathy 1988
            neuromuscular disease 1559
              muscular disease 1002
                muscle tissue disease 695
                  myopathy 559
                    muscular dystrophy 279
                      limb-girdle muscular dystrophy 121
                        autosomal recessive limb-girdle muscular dystrophy 105
                          autosomal recessive limb-girdle muscular dystrophy type 2T 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.