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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive limb-girdle muscular dystrophy type 2Q
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Accession:DOID:0110285 term browser browse the term
Definition:An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the PLEC1 gene. (DO)
Synonyms:exact_synonym: LGMD2Q;   autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency;   muscular dystrophy, limb-girdle, type 2Q
 primary_id: OMIM:613723
 alt_id: RDO:0009955
 xref: ORDO:254361
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autosomal recessive limb-girdle muscular dystrophy type 2Q term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G S LOC101957084 plectin JBrowse link NW_004936470 8,194,124 8,252,139 RGD:7240710
RGD:9068941
G V PLEC plectin JBrowse link 8 138,125,471 138,187,209 RGD:7240710
RGD:9068941
G P PLEC plectin JBrowse link 4 696,355 753,859 RGD:7240710
RGD:9068941
G D PLEC plectin JBrowse link 13 37,449,379 37,503,752 RGD:7240710
RGD:9068941
G B PLEC plectin JBrowse link 8 143,673,672 143,711,211 RGD:7240710
RGD:9068941
G C Plec plectin JBrowse link NW_004955454 2,583,138 2,644,308 RGD:7240710
RGD:9068941
G R Plec plectin JBrowse link 7 117,230,319 117,291,859 RGD:7240710
RGD:8554872
G M Plec plectin JBrowse link 15 76,170,974 76,231,378 RGD:7240710
RGD:8554872
G H PLEC plectin JBrowse link 8 143,915,153 143,976,800 RGD:8554872
RGD:7240710

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Term Annotations click to browse term
  disease 104435
    Developmental Diseases 69873
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 60077
        genetic disease 56212
          monogenic disease 39161
            autosomal genetic disease 31235
              autosomal recessive disease 17235
                autosomal recessive limb-girdle muscular dystrophy 723
                  autosomal recessive limb-girdle muscular dystrophy type 2Q 8
Path 2
Term Annotations click to browse term
  disease 104435
    disease of anatomical entity 100713
      nervous system disease 78815
        peripheral nervous system disease 16980
          neuropathy 15692
            neuromuscular disease 12349
              muscular disease 7973
                muscle tissue disease 5521
                  myopathy 4417
                    muscular dystrophy 2181
                      limb-girdle muscular dystrophy 978
                        autosomal recessive limb-girdle muscular dystrophy 723
                          autosomal recessive limb-girdle muscular dystrophy type 2Q 8
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