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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:T cell deficiency
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Accession:DOID:11200 term browser browse the term
Definition:A primary immunodeficiency disease that is characterized by decreased numbers of circulating or functioning T cells. (DO)
Synonyms:exact_synonym: T lymphocyte deficiency;   T-cell Immunodeficiency;   T-lymphocyte immunodeficiency
 alt_id: DOID:613
 xref: NCI:C27145;   NCI:C27872
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
T cell deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxn1 forkhead box N1 ISO ClinVar Annotator: match by term: T-lymphocyte deficiency ClinVar PMID:10206641 PMID:15180707 PMID:28492532 PMID:31447097 PMID:31566583 NCBI chr10:65,621,142...65,634,666
Ensembl chr10:65,621,257...65,634,666
JBrowse link
immunodeficiency 11B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Card11 caspase recruitment domain family, member 11 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS ClinVar
OMIM
PMID:28628108 NCBI chr12:15,700,600...15,844,512
Ensembl chr12:15,700,825...15,844,512
JBrowse link
immunodeficiency 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Unc119 unc-119 lipid binding chaperone ISO ClinVar Annotator: match by term: Immunodeficiency 13 ClinVar
OMIM
PMID:22184408 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:65,606,919...65,612,324
Ensembl chr10:65,606,898...65,612,324
JBrowse link
immunodeficiency 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arcn1 archain 1 ISO ClinVar Annotator: match by term: Immunodeficiency 17 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 NCBI chr 8:49,051,257...49,075,861
Ensembl chr 8:49,051,246...49,075,892
JBrowse link
G Atp5mg ATP synthase membrane subunit g ISO ClinVar Annotator: match by term: Immunodeficiency 17 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 NCBI chr 8:49,220,441...49,227,273
Ensembl chr 8:49,220,443...49,227,273
JBrowse link
G Bcl9l BCL9 like ISO ClinVar Annotator: match by term: Immunodeficiency 17 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 NCBI chr 8:48,805,684...48,835,794
Ensembl chr 8:48,805,684...48,834,312
JBrowse link
G Cd3d CD3d molecule ISO ClinVar Annotator: match by term: Immunodeficiency 17 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 NCBI chr 8:49,282,502...49,287,095
Ensembl chr 8:49,282,460...49,287,110
JBrowse link
G Cd3e CD3e molecule ISO ClinVar Annotator: match by term: Immunodeficiency 17 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 NCBI chr 8:49,297,604...49,309,370
Ensembl chr 8:49,297,608...49,308,806
JBrowse link
G Cd3g CD3g molecule ISO ClinVar Annotator: match by term: Immunodeficiency 17
ClinVar Annotator: match by term: Immunodeficiency due to defect in CD3-gamma
ClinVar Annotator: match by OMIM:615607
OMIM
ClinVar
PMID:1635567 PMID:1709425 PMID:8490660 PMID:9536098 PMID:15546002 PMID:17277165 PMID:17576681 PMID:24033266 PMID:24216686 PMID:24910257 PMID:25373860 PMID:25741868 PMID:26822028 PMID:28492532 NCBI chr 8:49,274,553...49,280,943
Ensembl chr 8:49,274,960...49,280,901
JBrowse link
G Cenatac centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: Immunodeficiency 17 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 NCBI chr 8:48,729,695...48,736,574
Ensembl chr 8:48,729,835...48,736,506
JBrowse link
G Cxcr5 C-X-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Immunodeficiency 17 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 NCBI chr 8:48,835,688...48,852,032
Ensembl chr 8:48,836,957...48,850,671
JBrowse link
G Ddx6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Immunodeficiency 17 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 NCBI chr 8:48,924,768...48,961,394
Ensembl chr 8:48,925,604...48,958,026
JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 17 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 NCBI chr 8:48,657,779...48,664,531
Ensembl chr 8:48,657,795...48,664,860
JBrowse link
G Foxr1 forkhead box R1 ISO ClinVar Annotator: match by term: Immunodeficiency 17 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 NCBI chr 8:48,754,300...48,762,765
Ensembl chr 8:48,754,736...48,762,342
JBrowse link
G H2ax H2A.X variant histone ISO ClinVar Annotator: match by term: Immunodeficiency 17 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 NCBI chr 8:48,665,652...48,666,981
Ensembl chr 8:48,665,652...48,666,981
JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Immunodeficiency 17 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 NCBI chr 8:48,667,278...48,674,673
Ensembl chr 8:48,667,275...48,674,748
JBrowse link
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Immunodeficiency 17 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 NCBI chr 8:48,699,796...48,711,912
Ensembl chr 8:48,699,769...48,711,910
JBrowse link
G Ift46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: Immunodeficiency 17 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 NCBI chr 8:49,075,978...49,097,689
Ensembl chr 8:49,077,053...49,097,686
JBrowse link
G Il10ra interleukin 10 receptor subunit alpha ISO ClinVar Annotator: match by term: Immunodeficiency 17 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 NCBI chr 8:49,558,062...49,573,891
Ensembl chr 8:49,560,035...49,573,742
JBrowse link
G Jaml junction adhesion molecule like ISO ClinVar Annotator: match by term: Immunodeficiency 17 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 NCBI chr 8:49,378,644...49,408,894
Ensembl chr 8:49,378,644...49,410,088
JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Immunodeficiency 17 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 NCBI chr 8:49,110,407...49,185,872
Ensembl chr 8:49,114,990...49,158,971
JBrowse link
G Mpzl2 myelin protein zero-like 2 ISO ClinVar Annotator: match by term: Immunodeficiency 17 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 NCBI chr 8:49,342,067...49,353,080
Ensembl chr 8:49,342,067...49,353,080
JBrowse link
G Mpzl3 myelin protein zero-like 3 ISO ClinVar Annotator: match by term: Immunodeficiency 17 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 NCBI chr 8:49,354,257...49,374,444
Ensembl chr 8:49,354,115...49,376,687
JBrowse link
G Phldb1 pleckstrin homology-like domain, family B, member 1 ISO ClinVar Annotator: match by term: Immunodeficiency 17 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 NCBI chr 8:48,997,189...49,045,176
Ensembl chr 8:48,997,184...49,045,154
JBrowse link
G Rps25 ribosomal protein s25 ISO ClinVar Annotator: match by term: Immunodeficiency 17 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 NCBI chr 8:48,727,346...48,729,722
Ensembl chr 8:48,727,618...48,729,580
JBrowse link
G Scn2b sodium voltage-gated channel beta subunit 2 ISO ClinVar Annotator: match by term: Immunodeficiency 17 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 NCBI chr 8:49,419,003...49,431,110
Ensembl chr 8:49,418,965...49,427,689
JBrowse link
G Scn4b sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Immunodeficiency 17 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 NCBI chr 8:49,441,106...49,456,279
Ensembl chr 8:49,441,106...49,456,279
JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: Immunodeficiency 17 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 NCBI chr 8:48,716,914...48,723,024
Ensembl chr 8:48,716,939...48,723,024
JBrowse link
G Tmem25 transmembrane protein 25 ISO ClinVar Annotator: match by term: Immunodeficiency 17 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 NCBI chr 8:49,100,759...49,106,258
Ensembl chr 8:49,100,759...49,106,177
JBrowse link
G Tmprss4 transmembrane serine protease 4 ISO ClinVar Annotator: match by term: Immunodeficiency 17 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 NCBI chr 8:49,469,804...49,503,304
Ensembl chr 8:49,469,503...49,502,647
JBrowse link
G Trappc4 trafficking protein particle complex subunit 4 ISO ClinVar Annotator: match by term: Immunodeficiency 17 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 NCBI chr 8:48,723,755...48,727,182
Ensembl chr 8:48,723,191...48,727,154
JBrowse link
G Treh trehalase ISO ClinVar Annotator: match by term: Immunodeficiency 17 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 NCBI chr 8:48,983,802...48,998,072
Ensembl chr 8:48,983,802...48,997,191
JBrowse link
G Ttc36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: Immunodeficiency 17 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 NCBI chr 8:49,106,374...49,109,981
Ensembl chr 8:49,106,374...49,109,981
JBrowse link
G Ube4a ubiquitination factor E4A ISO ClinVar Annotator: match by term: Immunodeficiency 17 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 NCBI chr 8:49,229,713...49,271,894
Ensembl chr 8:49,229,717...49,271,834
JBrowse link
G Upk2 uroplakin 2 ISO ClinVar Annotator: match by term: Immunodeficiency 17 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 NCBI chr 8:48,772,906...48,774,898
Ensembl chr 8:48,772,906...48,774,898
JBrowse link
G Vps11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Immunodeficiency 17 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 NCBI chr 8:48,677,492...48,692,295
Ensembl chr 8:48,677,492...48,692,295
JBrowse link
immunodeficiency 25 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd247 Cd247 molecule ISO ClinVar Annotator: match by term: Immunodeficiency due to defect in cd3-zeta
ClinVar Annotator: match by OMIM:610163
OMIM
ClinVar
PMID:9536098 PMID:16672702 PMID:17170122 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr13:83,996,045...84,071,408
Ensembl chr13:83,996,080...84,071,400
JBrowse link
immunodeficiency 48 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zap70 zeta chain of T cell receptor associated protein kinase 70 ISO ClinVar Annotator: match by term: ZAP70-Related Severe Combined Immunodeficiency
ClinVar Annotator: match by term: Combined immunodeficiency due to ZAP70 deficiency
OMIM
ClinVar
PMID:8124727 PMID:8202712 PMID:8202713 PMID:9536098 PMID:11123350 PMID:11412303 PMID:16199547 PMID:17576681 PMID:21441961 PMID:23124046 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 9:43,331,149...43,353,097
Ensembl chr 9:43,331,155...43,353,113
JBrowse link
immunodeficiency 49 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl11b BAF chromatin remodeling complex subunit BCL11B ISO ClinVar Annotator: match by term: Immunodeficiency 49 ClinVar
OMIM
PMID:25627829 PMID:25741868 PMID:27959755 PMID:29985992 NCBI chr 6:131,834,097...131,927,251
Ensembl chr 6:131,834,097...131,926,272
JBrowse link
immunodeficiency 52 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lat linker for activation of T cells ISO ClinVar Annotator: match by term: Immunodeficiency 52 ClinVar
OMIM
PMID:25741868 PMID:27242165 PMID:27522155 NCBI chr 1:197,765,644...197,770,669
Ensembl chr 1:197,765,644...197,770,669
JBrowse link
immunodeficiency 79 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd4 Cd4 molecule ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 79 OMIM
ClinVar
PMID:31781092 PMID:33471124 NCBI chr 4:157,381,862...157,408,357
Ensembl chr 4:157,383,052...157,408,176
JBrowse link
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 term: Combined immunodeficiency due to ORAI1 deficiency
ClinVar Annotator: match by term: IMMUNODEFICIENCY 9
ClinVar Annotator: match by term: Immune dysfunction with T-cell inactivation due to calcium entry defect 1
ClinVar Annotator: match by OMIM:612782
OMIM
ClinVar
PMID:7531512 PMID:7798233 PMID:8814256 PMID:16582901 PMID:18187424 PMID:19182790 PMID:20004786 PMID:24033266 PMID:25227914 PMID:25741868 PMID:26546674 PMID:26576490 PMID:28058752 PMID:28492532 PMID:30382595 PMID:31036819 NCBI chr12:38,981,903...38,995,570
Ensembl chr12:38,981,927...38,995,570
JBrowse link
X-Linked immunodeficiency 74 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tlr7 toll-like receptor 7 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 74, COVID19-RELATED, X-LINKED OMIM
ClinVar
PMID:32706371 NCBI chr  X:28,486,836...28,513,004
Ensembl chr  X:28,486,869...28,512,957
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    syndrome 8018
      primary immunodeficiency disease 2694
        T cell deficiency 43
          Nezelof syndrome 0
          X-Linked immunodeficiency 74 1
          immunodeficiency 11B 1
          immunodeficiency 13 1
          immunodeficiency 17 33
          immunodeficiency 25 1
          immunodeficiency 48 1
          immunodeficiency 49 1
          immunodeficiency 52 1
          immunodeficiency 7 0
          immunodeficiency 79 1
          immunodeficiency 9 1
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      Immune & Inflammatory Diseases 3881
        immune system disease 3249
          primary immunodeficiency disease 2694
            T cell deficiency 43
              Nezelof syndrome 0
              X-Linked immunodeficiency 74 1
              immunodeficiency 11B 1
              immunodeficiency 13 1
              immunodeficiency 17 33
              immunodeficiency 25 1
              immunodeficiency 48 1
              immunodeficiency 49 1
              immunodeficiency 52 1
              immunodeficiency 7 0
              immunodeficiency 79 1
              immunodeficiency 9 1
paths to the root