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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal dominant limb-girdle muscular dystrophy type 1
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Accession:DOID:0110305 term browser browse the term
Definition:An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the DNAJB6 gene on chromosome 7q36. (DO)
Synonyms:exact_synonym: LGMD1D;   LGMD1E;   autosomal dominant limb-girdle muscular dystrophy type 1E;   muscular dystrophy limb-girdle type 1D;   muscular dystrophy limb-girdle type 1E
 primary_id: MESH:C566370;   MESH:C566589
 alt_id: OMIM:603511;   RDO:0014744;   RDO:0014903
 xref: ORDO:34517
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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      musculoskeletal system disease 4302
        muscular disease 968
          atrophic muscular disease 280
            muscular dystrophy 278
              limb-girdle muscular dystrophy 122
                autosomal dominant limb-girdle muscular dystrophy 8
                  autosomal dominant limb-girdle muscular dystrophy type 1 1
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        peripheral nervous system disease 2138
          neuropathy 1960
            neuromuscular disease 1530
              muscular disease 968
                muscle tissue disease 689
                  myopathy 556
                    muscular dystrophy 278
                      limb-girdle muscular dystrophy 122
                        autosomal dominant limb-girdle muscular dystrophy 8
                          autosomal dominant limb-girdle muscular dystrophy type 1 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.