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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive limb-girdle muscular dystrophy type 2F
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Accession:DOID:0110280 term browser browse the term
Definition:An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the sarcoglycan-delta gene (SGCD). (DO)
Synonyms:exact_synonym: DELTA-SARCOGLYCANOPATHY;   LGMD2F;   LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2F;   limb-girdle muscular dystrophy 2F;   limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency;   limb-girdle muscular dystrophy with delta-sarcoglyan deficiency
 narrow_synonym: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6, DIGENIC;   limb-girdle muscular dystrophy type 2f, digenic
 primary_id: MESH:C535896
 alt_id: OMIA:002122;   OMIM:601287;   RDO:0001260
 xref: ORDO:219
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autosomal recessive limb-girdle muscular dystrophy type 2F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sgcd sarcoglycan, delta JBrowse link 10 32,062,946 32,471,454 RGD:7240710
RGD:8554872
RGD:11554173

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 2F 1
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 2F 1
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