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ONTOLOGY REPORT - ANNOTATIONS


Term:MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1
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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 type 2A;   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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MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1 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 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
                  MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1 3
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
                          MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.