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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive limb-girdle muscular dystrophy type 2A
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Accession:DOID:0110275 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 proteolytic enzyme calpain-3 (CAPN3) on chromosome 15q15. (DO)
Synonyms:exact_synonym: Calpainopathy;   LGMD2;   LGMD2A;   LGMDR1;   Leyden-Moebius muscular dystrophy;   Limb-girdle muscular dystrophy type 2;   Muscular dystrophy, pelvofemoral;   autosomal recessive limb-girdle muscular dystrophy, 1;   eosinophilic myositis;   limb-girdle muscular dystrophy due to calpain deficiency;   muscular dystrophy, limb-girdle, type 2A;   primary calpainopathy
 narrow_synonym: CALPAINOPATHY MYOSITIS, EOSINOPHILIC
 broad_synonym: CAPN3-RELATED DISORDER
 primary_id: MESH:C535895
 alt_id: OMIM:253600;   RDO:0001259
 xref: GARD:3845;   ORDO:267
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autosomal recessive limb-girdle muscular dystrophy type 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Capn3 calpain 3 JBrowse link 3 112,227,486 112,278,408 RGD:734687
RGD:8554872
RGD:7240710
G Pomt1 protein-O-mannosyltransferase 1 JBrowse link 3 11,253,424 11,271,873 RGD:8554872
G Sgcb sarcoglycan, beta JBrowse link 14 37,113,194 37,128,623 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      musculoskeletal system disease 4281
        muscular disease 959
          atrophic muscular disease 279
            muscular dystrophy 277
              limb-girdle muscular dystrophy 122
                autosomal recessive limb-girdle muscular dystrophy 106
                  autosomal recessive limb-girdle muscular dystrophy type 2A 3
Path 2
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      nervous system disease 10224
        peripheral nervous system disease 2127
          neuropathy 1950
            neuromuscular disease 1522
              muscular disease 959
                muscle tissue disease 685
                  myopathy 552
                    muscular dystrophy 277
                      limb-girdle muscular dystrophy 122
                        autosomal recessive limb-girdle muscular dystrophy 106
                          autosomal recessive limb-girdle muscular dystrophy type 2A 3
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