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;   eosinophilic myositis;   limb-girdle muscular dystrophy due to calpain deficiency;   muscular dystrophy, limb-girdle, type 2A;   primary calpainopathy
 narrow_synonym: CALPAINOPATHY MYOSITIS, EOSINOPHILIC
 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 Brca1 BRCA1, DNA repair associated JBrowse link 10 89,394,821 89,455,093 RGD:8554872
G Capn3 calpain 3 JBrowse link 3 112,227,486 112,278,408 RGD:734687
RGD:8554872
RGD:7240710
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:8554872
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:8554872
G Jag1 jagged canonical Notch ligand 1 JBrowse link 3 130,079,361 130,114,781 RGD:8554872
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
G Slc9a6 solute carrier family 9 member A6 JBrowse link X 158,979,081 159,045,019 RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14919
    disease of anatomical entity 14083
      musculoskeletal system disease 3995
        muscular disease 908
          atrophic muscular disease 244
            muscular dystrophy 243
              limb-girdle muscular dystrophy 115
                autosomal recessive limb-girdle muscular dystrophy 99
                  autosomal recessive limb-girdle muscular dystrophy type 2A 9
Path 2
Term Annotations click to browse term
  disease 14919
    disease of anatomical entity 14083
      nervous system disease 9147
        peripheral nervous system disease 2015
          neuropathy 1836
            neuromuscular disease 1412
              muscular disease 908
                muscle tissue disease 636
                  myopathy 523
                    muscular dystrophy 243
                      limb-girdle muscular dystrophy 115
                        autosomal recessive limb-girdle muscular dystrophy 99
                          autosomal recessive limb-girdle muscular dystrophy type 2A 9
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.