Send us a Message



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

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Axial Myopathy, Late-Onset
go back to main search page
Accession:DOID:9004757 term browser browse the term
Definition:A non-specific myopathic disease, restricted to para-spinal musculature.
Synonyms:primary_id: RDO:9000336



show annotations for term's descendants           Sort by:
Axial Myopathy, Late-Onset term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Axial myopathy, late-onset ClinVar PMID:23329375 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
JBrowse link
Camptocormia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf3 growth differentiation factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22613031 NCBI chr 4:155,831,572...155,835,953
Ensembl chr 4:155,830,909...155,835,937
JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Bent Spine Syndrome ClinVar PMID:12707239 PMID:23861362 PMID:24033266 PMID:24793961 PMID:25467552 More... NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Bent Spine Syndrome ClinVar PMID:16621917 PMID:17452231 PMID:18546365 PMID:19189930 PMID:19578034 More... NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Bent Spine Syndrome ClinVar PMID:17486094 PMID:21378381 PMID:24741716 PMID:25741868 NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21142
    disease of anatomical entity 18190
      musculoskeletal system disease 8236
        muscular disease 2136
          Axial Myopathy, Late-Onset 5
            Camptocormia 4
            dropped head syndrome 0
Path 2
Term Annotations click to browse term
  disease 21142
    disease of anatomical entity 18190
      nervous system disease 14019
        peripheral nervous system disease 4087
          neuropathy 3872
            neuromuscular disease 3048
              muscular disease 2136
                Axial Myopathy, Late-Onset 5
                  Camptocormia 4
                  dropped head syndrome 0
paths to the root