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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 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
                  autosomal recessive limb-girdle muscular dystrophy type 2C 2
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
                          autosomal recessive limb-girdle muscular dystrophy type 2C 2
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