ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive limb-girdle muscular dystrophy type 2C
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Accession:DOID:0110277 term browser browse the term
Definition:An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gamma-sarcoglycan gene (SGCG) on chromosome 13q12. (DO)
Synonyms:exact_synonym: Adhalin deficiency, secondary;   DMDA;   DMDA1;   Duchenne-like muscular dystrophy, autosomal recessive, type 1;   LGMD2C;   Limb-girdle muscular dystrophy with gamma-sarcoglycan deficiency;   Maghrebian myopathy;   Muscular dystrophy, Duchenne-like;   SARCOGLYCAN, GAMMA, DEFICIENCY OF;   SCARMD;   SEVERE AUTOSOMAL RECESSIVE MUSCULAR DYSTROPHY OF CHILDHOOD - NORTH AFRICAN TYPE;   gamma-sarcoglycanopathy;   limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency;   muscular dystrophy, limb-girdle, type 2C;   severe childhood autosomal recessive muscular dystrophy, North African type
 primary_id: MESH:C535900
 alt_id: OMIM:253700;   RDO:0001265
 xref: ORDO:353
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autosomal recessive limb-girdle muscular dystrophy type 2C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sacs sacsin molecular chaperone JBrowse link 15 41,448,078 41,530,412 RGD:8554872
G Sgcg sarcoglycan, gamma JBrowse link 15 41,549,330 41,595,275 RGD:7240710
RGD:8554872
RGD:13605619

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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 2C 2
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 2C 2
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