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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive limb-girdle muscular dystrophy type 2D
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Accession:DOID:0110278 term browser browse the term
Definition:Deficiencies or mutations in the genes for the SARCOGLYCAN COMPLEX subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency.
Synonyms:exact_synonym: Alpha Sarcoglycanopathies;   Alpha Sarcoglycanopathy;   DMDA2;   Duchenne Like Autosomal Recessive Muscular Dystrophy, Type 2;   LGMD2D;   Limb Girdle Muscular Dystrophy, Type 2D;   Muscular Dystrophy Limb Girdle with Alpha Sarcoglycan Deficiency;   Primary Adhalinopathies;   adhalinopathies;   primary adhalinopathy;   sarcoglycanopathies;   sarcoglycanopathy
 primary_id: MESH:D058088
 alt_id: OMIM:608099;   RDO:0001261
 xref: ORDO:62
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal recessive limb-girdle muscular dystrophy type 2D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dag1 dystroglycan 1 JBrowse link 8 116,980,501 116,993,182 RGD:11073211
G Sgca sarcoglycan, alpha JBrowse link 10 82,770,905 82,785,142 RGD:7240710
RGD:8554872
RGD:13605612
G Tuba1a tubulin, alpha 1A JBrowse link 7 140,637,287 140,640,953 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      respiratory system disease 2409
        Respiration Disorders 249
          autosomal recessive limb-girdle muscular dystrophy type 2D 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
                          autosomal recessive limb-girdle muscular dystrophy type 2D 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.