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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 myopathy 2
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Accession:DOID:0080686 term browser browse the term
Definition:A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the ORAI1 gene on chromosome 12q24. (DO)
Synonyms:exact_synonym: TAM2
 broad_synonym: ORAI1-RELATED CONDITION
 primary_id: OMIM:615883


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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 Annotator: match by term: ORAI1-related condition OMIM
ClinVar		 PMID:15452313 PMID:24591628 PMID:25227914 PMID:25741868 PMID:27882542 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 21126
    Developmental Disease 18447
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18306
        genetic disease 18250
          monogenic disease 10365
            autosomal genetic disease 9518
              autosomal dominant disease 6235
                tubular aggregate myopathy 2 1
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18213
      nervous system disease 14061
        peripheral nervous system disease 4113
          neuropathy 3898
            neuromuscular disease 3056
              muscular disease 2146
                muscle tissue disease 1293
                  myopathy 1008
                    Tubular Aggregate Myopathies 4
                      tubular aggregate myopathy 2 1
paths to the root