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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;   OMIM:PS160565;   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 Stim1 stromal interaction molecule 1 ISO ClinVar Annotator: match by term: Myopathy with tubular aggregates
ClinVar Annotator: match by term: Myopathy, tubular aggregate, 1
ClinVar
OMIM
PMID:4085141 PMID:12623447 PMID:12745453 PMID:12944247 PMID:12944248 PMID:23332920 PMID:24570283 PMID:24591628 PMID:24619930 PMID:25044882 PMID:25326555 PMID:25577287 PMID:25741868 PMID:26436962 PMID:28492532 PMID:28624464 NCBI chr 1:167,373,894...167,533,412
Ensembl chr 1:167,373,678...167,533,420
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 ClinVar
OMIM
PMID:15452313 PMID:24591628 PMID:25227914 PMID:27882542 NCBI chr12:38,981,903...38,995,570
Ensembl chr12:38,981,927...38,995,570
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      musculoskeletal system disease 5740
        muscular disease 1168
          muscle tissue disease 792
            myopathy 644
              Tubular Aggregate Myopathies 2
                tubular aggregate myopathy 1 1
                tubular aggregate myopathy 2 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        peripheral nervous system disease 2425
          neuropathy 2243
            neuromuscular disease 1763
              muscular disease 1168
                muscle tissue disease 792
                  myopathy 644
                    Tubular Aggregate Myopathies 2
                      tubular aggregate myopathy 1 1
                      tubular aggregate myopathy 2 1
paths to the root