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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:Tubular Aggregate Myopathies
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Accession:DOID:9002092 term browser browse the term
Synonyms:exact_synonym: TAM;   myopathy with tubular aggregates;   tubular aggregate myopathy
 xref: GARD:3884;   ORDO:2593
For additional species annotation, visit the Alliance of Genome Resources.



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tubular aggregate myopathy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: MYOTUBULAR MYOPATHY, AUTOSOMAL DOMINANT ClinVar PMID:2734399 PMID:16227997 PMID:18414213 PMID:20529869 PMID:20858595 More... NCBI chr 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157
JBrowse link
G Orai1 ORAI calcium release-activated calcium modulator 1 ISO ClinVar Annotator: match by term: Myopathy, tubular aggregate, 1 ClinVar PMID:28492532 NCBI chr12:33,533,151...33,548,361
Ensembl chr12:33,534,344...33,548,405
JBrowse link
G Stim1 stromal interaction molecule 1 ISO ClinVar Annotator: match by term: Myopathy, tubular aggregate, 1 OMIM
ClinVar
PMID:12623447 PMID:12745453 PMID:12944247 PMID:12944248 PMID:19420366 More... NCBI chr 1:156,656,246...156,818,777
Ensembl chr 1:156,656,013...156,818,363
JBrowse link
tubular aggregate myopathy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Orai1 ORAI calcium release-activated calcium modulator 1 ISO ClinVar Annotator: match by term: Myopathy, tubular aggregate, 2 OMIM
ClinVar
PMID:15452313 PMID:24591628 PMID:25227914 PMID:25627829 PMID:25741868 More... NCBI chr12:33,533,151...33,548,361
Ensembl chr12:33,534,344...33,548,405
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      musculoskeletal system disease 7230
        muscular disease 1453
          muscle tissue disease 950
            myopathy 779
              Tubular Aggregate Myopathies 3
                tubular aggregate myopathy 1 3
                tubular aggregate myopathy 2 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        peripheral nervous system disease 3018
          neuropathy 2804
            neuromuscular disease 2223
              muscular disease 1453
                muscle tissue disease 950
                  myopathy 779
                    Tubular Aggregate Myopathies 3
                      tubular aggregate myopathy 1 3
                      tubular aggregate myopathy 2 1
paths to the root