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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal dominant limb-girdle muscular dystrophy
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Accession:DOID:0110273 term browser browse the term
Definition:A limb-girdle muscular dystrophy that has_material_basis_in autosomal dominant inheritance. (DO)
Synonyms:primary_id: RDO:9004213
 xref: OMIM:PS159000;   OMIM:PS603511;   ORDO:102014
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal dominant Emery-Dreifuss muscular dystrophy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
RGD:7240710
RGD:2306094
RGD:12791273
RGD:11062274
RGD:12791020
autosomal dominant limb-girdle muscular dystrophy type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 JBrowse link 4 2,711,329 2,774,969 RGD:7240710
RGD:8554872
autosomal dominant limb-girdle muscular dystrophy type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnpo3 transportin 3 JBrowse link 4 56,820,023 56,897,310 RGD:7240710
RGD:8554872
autosomal dominant limb-girdle muscular dystrophy type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hnrnpdl heterogeneous nuclear ribonucleoprotein D-like JBrowse link 14 11,199,114 11,204,670 RGD:7240710
RGD:8554872
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Capn3 calpain 3 JBrowse link 3 112,227,486 112,278,408 RGD:7240710
RGD:8554872
myofibrillar myopathy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myot myotilin JBrowse link 18 35,573,978 35,593,541 RGD:8554872
RGD:11554173
RGD:7240710
rippling muscle disease 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cav3 caveolin 3 JBrowse link 4 144,382,945 144,398,919 RGD:7240710
RGD:8554872
RGD:11554173
G Ssuh2 ssu-2 homolog JBrowse link 4 144,301,913 144,322,197 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16017
    Developmental Diseases 9307
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8132
        genetic disease 7652
          monogenic disease 5403
            autosomal genetic disease 4361
              autosomal dominant disease 2728
                autosomal dominant limb-girdle muscular dystrophy 8
                  Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 4 1
                  autosomal dominant Emery-Dreifuss muscular dystrophy 2 1
                  autosomal dominant limb-girdle muscular dystrophy type 1 1
                  autosomal dominant limb-girdle muscular dystrophy type 1H 0
                  autosomal dominant limb-girdle muscular dystrophy type 2 1
                  autosomal dominant limb-girdle muscular dystrophy type 3 1
                  myofibrillar myopathy 3 1
                  rippling muscle disease 2 2
Path 2
Term Annotations click to browse term
  disease 16017
    disease of anatomical entity 15273
      nervous system disease 10762
        peripheral nervous system disease 2363
          neuropathy 2179
            neuromuscular disease 1712
              muscular disease 1126
                muscle tissue disease 757
                  myopathy 611
                    muscular dystrophy 306
                      limb-girdle muscular dystrophy 147
                        autosomal dominant limb-girdle muscular dystrophy 8
                          Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 4 1
                          autosomal dominant Emery-Dreifuss muscular dystrophy 2 1
                          autosomal dominant limb-girdle muscular dystrophy type 1 1
                          autosomal dominant limb-girdle muscular dystrophy type 1H 0
                          autosomal dominant limb-girdle muscular dystrophy type 2 1
                          autosomal dominant limb-girdle muscular dystrophy type 3 1
                          myofibrillar myopathy 3 1
                          rippling muscle disease 2 2
paths to the root

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