Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal dominant limb-girdle muscular dystrophy type 1
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
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 15602
    disease of anatomical entity 14933
      musculoskeletal system disease 4326
        muscular disease 1000
          atrophic muscular disease 281
            muscular dystrophy 279
              limb-girdle muscular dystrophy 121
                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 15602
    disease of anatomical entity 14933
      nervous system disease 10260
        peripheral nervous system disease 2163
          neuropathy 1987
            neuromuscular disease 1558
              muscular disease 1000
                muscle tissue disease 693
                  myopathy 559
                    muscular dystrophy 279
                      limb-girdle muscular dystrophy 121
                        autosomal dominant limb-girdle muscular dystrophy 8
                          autosomal dominant limb-girdle muscular dystrophy type 1 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.