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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:immunodeficiency 9
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Accession:DOID:0111976 term browser browse the term
Definition:A T cell deficiency characterized by early onset of recurrent infections due to defective T-cell activation, ectodermal dysplasia, and congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in ORAI1 on chromosome 12q24.31. (DO)
Synonyms:exact_synonym: CID due to ORAI1 deficiency;   IMD9;   combined immunodeficiency due to ORAI1 deficiency;   immune dysfunction with T-cell inactivation due to calcium entry defect 1
 primary_id: MESH:C557826
 alt_id: OMIM:612782
 xref: ORDO:317428
For additional species annotation, visit the Alliance of Genome Resources.


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immunodeficiency 9 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 OMIM:612782
ClinVar Annotator: match by term: Immune dysfunction with T-cell inactivation due to calcium entry defect 1
ClinVar Annotator: match by term: IMMUNODEFICIENCY 9
OMIM
ClinVar
PMID:7531512 PMID:7798233 PMID:8814256 PMID:16582901 PMID:18187424 PMID:19182790 PMID:20004786 PMID:24033266 PMID:25741868 PMID:26576490 PMID:28492532 PMID:31036819 NCBI chr12:38,981,903...38,995,570
Ensembl chr12:38,981,927...38,995,570
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    syndrome 7036
      primary immunodeficiency disease 2364
        T cell deficiency 10
          immunodeficiency 9 1
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 0
      Immune & Inflammatory Diseases 3577
        immune system disease 2948
          primary immunodeficiency disease 2364
            combined immunodeficiency 147
              severe combined immunodeficiency 93
                immunodeficiency 9 1
paths to the root