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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive limb-girdle muscular dystrophy type 2B
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Accession:DOID:0110276 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 gene encoding the skeletal muscle protein dysferlin (DYSF) on chromosome 2p13. (DO)
Synonyms:exact_synonym: LGMD2B;   LGMD3;   LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2B;   Muscular dystrophy, limb-girdle, type 3;   limb-girdle muscular dystrophy due to dysferlin deficiency
 primary_id: MESH:C535899
 alt_id: OMIM:253601;   RDO:0001264
 xref: ORDO:268
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autosomal recessive limb-girdle muscular dystrophy type 2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dysf dysferlin JBrowse link 4 115,700,942 115,901,873 RGD:7240710
RGD:8554872
RGD:11554173
G Vdr vitamin D receptor JBrowse link 7 139,344,452 139,394,138 RGD:13210781

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      musculoskeletal system disease 4252
        muscular disease 941
          atrophic muscular disease 277
            muscular dystrophy 275
              limb-girdle muscular dystrophy 121
                autosomal recessive limb-girdle muscular dystrophy 105
                  autosomal recessive limb-girdle muscular dystrophy type 2B 2
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      nervous system disease 10196
        peripheral nervous system disease 2111
          neuropathy 1933
            neuromuscular disease 1504
              muscular disease 941
                muscle tissue disease 667
                  myopathy 546
                    muscular dystrophy 275
                      limb-girdle muscular dystrophy 121
                        autosomal recessive limb-girdle muscular dystrophy 105
                          autosomal recessive limb-girdle muscular dystrophy type 2B 2
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