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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 16045
    syndrome 6991
      primary immunodeficiency disease 2340
        T cell deficiency 10
          immunodeficiency 9 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      Immune & Inflammatory Diseases 3504
        immune system disease 2921
          primary immunodeficiency disease 2340
            combined immunodeficiency 149
              severe combined immunodeficiency 91
                immunodeficiency 9 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.