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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
 xref: MIM:615883;   MONDO:0014383


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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 chr12:39,195,139...39,209,030
Ensembl chr12:39,195,163...39,209,408 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          monogenic disease 10835
            autosomal genetic disease 10302
              autosomal dominant disease 6057
                tubular aggregate myopathy 2 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        peripheral nervous system disease 4409
          neuropathy 4194
            neuromuscular disease 3236
              muscular disease 2244
                muscle tissue disease 1363
                  myopathy 1058
                    Tubular Aggregate Myopathies 12
                      tubular aggregate myopathy 2 1
paths to the root