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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive limb-girdle muscular dystrophy type 2E
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Accession:DOID:0110279 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 beta-sarcoglycan (SGCB) on chromosome 4q12. (DO)
Synonyms:exact_synonym: Beta-sarcoglycan limb-girdle muscular dystrophy;   Beta-sarcoglycanopathy;   LGMD2E;   limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency;   limb-girdle muscular dystrophy with beta-sarcoglycan deficiency;   muscular dystrophy, limb-girdle, type 2E
 primary_id: MESH:C535902
 alt_id: OMIM:604286;   RDO:0001267
 xref: ORDO:119
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autosomal recessive limb-girdle muscular dystrophy type 2E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sgcb sarcoglycan, beta JBrowse link 14 37,113,194 37,128,623 RGD:7240710
RGD:8554872
RGD:13605614
RGD:13605613

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      musculoskeletal system disease 4302
        muscular disease 968
          atrophic muscular disease 280
            muscular dystrophy 278
              limb-girdle muscular dystrophy 122
                autosomal recessive limb-girdle muscular dystrophy 106
                  autosomal recessive limb-girdle muscular dystrophy type 2E 1
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        peripheral nervous system disease 2138
          neuropathy 1960
            neuromuscular disease 1530
              muscular disease 968
                muscle tissue disease 689
                  myopathy 556
                    muscular dystrophy 278
                      limb-girdle muscular dystrophy 122
                        autosomal recessive limb-girdle muscular dystrophy 106
                          autosomal recessive limb-girdle muscular dystrophy type 2E 1
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