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

ONTOLOGY REPORT - ANNOTATIONS


Term:Bethlem Myopathy 1
go back to main search page
Accession:DOID:9009360 term browser browse the term
Synonyms:exact_synonym: BTHLM1
 narrow_synonym: BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE
 broad_synonym: COL6A1-RELATED DISORDER
 primary_id: OMIM:158810
 alt_id: RDO:0000545
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
Bethlem Myopathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ackr3 atypical chemokine receptor 3 JBrowse link 9 97,355,881 97,367,455 RGD:8554872
G Col6a1 collagen type VI alpha 1 chain JBrowse link 20 12,657,913 12,676,370 RGD:1600934
RGD:7240710
RGD:8554872
G Col6a2 collagen type VI alpha 2 chain JBrowse link 20 12,773,472 12,801,179 RGD:1600934
RGD:8554872
RGD:7240710
G Col6a3 collagen type VI alpha 3 chain JBrowse link 9 97,926,784 98,004,643 RGD:7240710
RGD:8554872
G Cops8 COP9 signalosome subunit 8 JBrowse link 9 97,772,224 97,782,055 RGD:8554872
G Ftcd formimidoyltransferase cyclodeaminase JBrowse link 20 12,806,957 12,820,466 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      musculoskeletal system disease 4297
        Joint Diseases 1062
          Contracture 58
            Bethlem myopathy 7
              Bethlem Myopathy 1 6
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      nervous system disease 10242
        peripheral nervous system disease 2134
          neuropathy 1956
            neuromuscular disease 1530
              muscular disease 968
                muscle tissue disease 689
                  myopathy 556
                    muscular dystrophy 278
                      congenital muscular dystrophy 50
                        Bethlem myopathy 7
                          Bethlem Myopathy 1 6
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.