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immunodeficiency 10 - Ontology Report - Rat Genome Database

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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 10
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Accession:DOID:0111970 term browser browse the term
Definition:A T cell and NK cell immunodeficiency characterized by onset in childhood of recurrent infections due to defective T- and NK-cell function that has_material_basis_in homozygous mutation in the STIM1 gene on chromosome 11p15.4. (DO)
Synonyms:exact_synonym: CID due to STIM1 deficiency;   IMD10;   Immune Dysfunction with T-Cell Inactivation due to Calcium Entry Defect 2;   STIM1 deficiency;   combined immunodeficiency due to STIM1 deficiency
 primary_id: MESH:C557827
 alt_id: MIM:612783
 xref: ORDO:317430

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immunodeficiency 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H LOC124418421 Sharpr-MPRA regulatory region 9588 IAGP ClinVar Annotator: match by term: IMMUNODEFICIENCY 10 ClinVar PMID:25741868 PMID:28492532 NCBI chr11:4,091,459...4,091,753 JBrowse link
G N Stim1 stromal interaction molecule 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to STIM1 deficiency | ClinVar Annotator: match by term: IMMUNODEFICIENCY 10 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:19420366 PMID:20876309 PMID:21427704 More... NCBI chrNW_004624817:5,291,111...5,522,732
Ensembl chrNW_004624817:5,291,717...5,522,864 		JBrowse link
G G STIM1 stromal interaction molecule 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to STIM1 deficiency | ClinVar Annotator: match by term: IMMUNODEFICIENCY 10 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:19420366 PMID:20876309 PMID:21427704 More... NCBI chr 1:62,651,472...62,865,992
Ensembl chr 1:62,651,290...62,865,986 		JBrowse link
G P STIM1 stromal interaction molecule 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to STIM1 deficiency | ClinVar Annotator: match by term: IMMUNODEFICIENCY 10 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:19420366 PMID:20876309 PMID:21427704 More... NCBI chr 9:6,066,612...6,270,090
Ensembl chr 9:6,066,617...6,270,575 		JBrowse link
G S Stim1 stromal interaction molecule 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to STIM1 deficiency | ClinVar Annotator: match by term: IMMUNODEFICIENCY 10 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:19420366 PMID:20876309 PMID:21427704 More... NCBI chrNW_004936498:849,775...1,063,552
Ensembl chrNW_004936498:849,739...1,063,552 		JBrowse link
G D STIM1 stromal interaction molecule 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to STIM1 deficiency | ClinVar Annotator: match by term: IMMUNODEFICIENCY 10 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:19420366 PMID:20876309 PMID:21427704 More... NCBI chr21:26,394,592...26,594,764
Ensembl chr21:26,394,811...26,593,375 		JBrowse link
G B STIM1 stromal interaction molecule 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to STIM1 deficiency | ClinVar Annotator: match by term: IMMUNODEFICIENCY 10 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:19420366 PMID:20876309 PMID:21427704 More... NCBI chr11:3,726,501...3,954,951
Ensembl chr11:3,840,513...4,065,224 		JBrowse link
G C Stim1 stromal interaction molecule 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to STIM1 deficiency | ClinVar Annotator: match by term: IMMUNODEFICIENCY 10 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:19420366 PMID:20876309 PMID:21427704 More... NCBI chrNW_004955414:19,652,990...19,849,353
Ensembl chrNW_004955414:19,652,990...19,847,964 		JBrowse link
G R Stim1 stromal interaction molecule 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to STIM1 deficiency | ClinVar Annotator: match by term: IMMUNODEFICIENCY 10
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:19420366 PMID:20876309 PMID:21427704 More... NCBI chr 1:166,067,450...166,230,733
Ensembl chr 1:156,656,013...156,818,363 		JBrowse link
G M Stim1 stromal interaction molecule 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to STIM1 deficiency | ClinVar Annotator: match by term: IMMUNODEFICIENCY 10
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:19420366 PMID:20876309 PMID:21427704 More... NCBI chr 7:101,909,279...102,086,525
Ensembl chr 7:101,917,013...102,086,526 		JBrowse link
G H STIM1 stromal interaction molecule 1 IAGP
EXP		 ClinVar Annotator: match by term: Combined immunodeficiency due to STIM1 deficiency
ClinVar Annotator: match by term: IMMUNODEFICIENCY 10
ClinVar Annotator: match by term: Combined immunodeficiency due to STIM1 deficiency | ClinVar Annotator: match by term: IMMUNODEFICIENCY 10
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:17576681 PMID:19420366 PMID:20876309 PMID:21427704 More... NCBI chr11:3,854,604...4,093,210
Ensembl chr11:3,854,527...4,093,210 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    syndrome 133013
      primary immunodeficiency disease 53864
        T cell and NK cell immunodeficiency 74
          immunodeficiency 10 11
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      Immune & Inflammatory Diseases 73737
        immune system disease 64599
          primary immunodeficiency disease 53864
            combined immunodeficiency 9468
              severe combined immunodeficiency 5137
                immunodeficiency 10 11
paths to the root