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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 28
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Accession:DOID:0111995 term browser browse the term
Definition:A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial disease, high levels of IFNG in the plasma, and absence of cellular response to IFNG that has_material_basis_in homozygous or compound heterozygous mutation in IFNGR2 on chromosome 21q22.11. (DO)
Synonyms:exact_synonym: IFNGR2 deficiency;   IMD28;   MSMD due to complete IFNgammaR2 deficiency;   MSMD due to complete interferon gamma receptor 2 deficiency;   Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency;   Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency;   immunodeficiency 28, mycobacteriosis;   immunodeficiency 28, mycobacteriosis, autosomal recessive
 primary_id: OMIM:614889
 xref: ORDO:319547
For additional species annotation, visit the Alliance of Genome Resources.



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immunodeficiency 28 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp5po ATP synthase peripheral stalk subunit OSCP ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:28492532 NCBI chr11:31,165,218...31,171,530
Ensembl chr11:31,165,217...31,171,592
JBrowse link
G Cbr3 carbonyl reductase 3 ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:28492532 NCBI chr11:33,008,615...33,016,877
Ensembl chr11:33,008,615...33,016,875
JBrowse link
G Cfap298 cilia and flagella associated protein 298 ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:28492532 NCBI chr11:30,181,916...30,191,302
Ensembl chr11:30,181,905...30,191,346
JBrowse link
G Chaf1b chromatin assembly factor 1 subunit B ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:28492532 NCBI chr11:33,200,894...33,221,076
Ensembl chr11:33,200,981...33,221,070
JBrowse link
G Cldn14 claudin 14 ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:28492532 NCBI chr11:33,232,281...33,329,440
Ensembl chr11:33,232,220...33,329,171
JBrowse link
G Clic6 chloride intracellular channel 6 ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:28492532 NCBI chr11:31,737,813...31,780,360
Ensembl chr11:31,737,813...31,780,061
JBrowse link
G Cryzl1 crystallin zeta like 1 ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:28492532 NCBI chr11:30,933,140...30,977,936
Ensembl chr11:30,933,144...30,977,867
JBrowse link
G Dnajc28 DnaJ heat shock protein family (Hsp40) member C28 ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:28492532 NCBI chr11:30,855,566...30,858,386
Ensembl chr11:30,853,526...30,858,441
JBrowse link
G Donson DNA replication fork stabilization factor DONSON ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:28492532 NCBI chr11:30,911,616...30,933,150
Ensembl chr11:30,923,239...30,932,889
JBrowse link
G Dop1b DOP1 leucine zipper like protein B ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:28492532 NCBI chr11:33,024,376...33,125,931
Ensembl chr11:33,024,411...33,125,931
JBrowse link
G Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:28492532 NCBI chr11:33,890,706...34,009,420
Ensembl chr11:33,890,490...34,009,420
JBrowse link
G Eva1c eva-1 homolog C ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:28492532 NCBI chr11:30,089,510...30,163,596
Ensembl chr11:30,089,365...30,163,596
JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:28492532 NCBI chr11:30,864,896...30,891,125
Ensembl chr11:30,865,889...30,891,125
JBrowse link
G Hlcs holocarboxylase synthetase ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:28492532 NCBI chr11:33,455,806...33,635,197
Ensembl chr11:33,455,809...33,624,222
JBrowse link
G Hunk hormonally upregulated Neu-associated kinase ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:28492532 NCBI chr11:29,641,051...29,758,392
Ensembl chr11:29,640,775...29,757,526
JBrowse link
G Ifnar1 interferon alpha and beta receptor subunit 1 ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:28492532 NCBI chr11:30,725,774...30,752,227
Ensembl chr11:30,725,790...30,749,979
JBrowse link
G Ifnar2 interferon alpha and beta receptor subunit 2 ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:28492532 NCBI chr11:30,613,576...30,645,958
Ensembl chr11:30,613,767...30,668,124
JBrowse link
G Ifngr2 interferon gamma receptor 2 ISO ClinVar Annotator: match by term: Immunodeficiency 28 OMIM
ClinVar
PMID:9536098 PMID:15924140 PMID:16690980 PMID:16885196 PMID:17576681 More... NCBI chr11:30,779,733...30,798,005
Ensembl chr11:30,779,733...30,798,005
JBrowse link
G Il10rb interleukin 10 receptor subunit beta ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:28492532 NCBI chr11:30,646,494...30,668,081
Ensembl chr11:30,652,096...30,668,074
JBrowse link
G Itsn1 intersectin 1 ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:28492532 NCBI chr11:30,978,590...31,160,645
Ensembl chr11:30,978,590...31,160,645
JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:28492532 NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901
JBrowse link
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:28492532 NCBI chr11:31,517,176...31,530,026
Ensembl chr11:31,295,614...31,530,043
JBrowse link
G Kcnj6 potassium inwardly-rectifying channel, subfamily J, member 6 ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:28492532 NCBI chr11:34,061,705...34,309,128
Ensembl chr11:34,061,708...34,308,758
JBrowse link
G LOC102556347 carbonyl reductase [NADPH] 1-like ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:28492532 NCBI chr11:32,892,640...32,895,277
Ensembl chr11:32,857,991...32,895,275
JBrowse link
G Mis18a MIS18 kinetochore protein A ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:28492532 NCBI chr11:29,968,030...29,981,058
Ensembl chr11:29,967,701...29,981,062
JBrowse link
G Morc3 MORC family CW-type zinc finger 3 ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:28492532 NCBI chr11:33,151,906...33,194,646
Ensembl chr11:33,152,025...33,194,646
JBrowse link
G Mrap melanocortin 2 receptor accessory protein ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:28492532 NCBI chr11:29,991,974...30,003,024
Ensembl chr11:29,992,034...30,003,024
JBrowse link
G Mrps6 mitochondrial ribosomal protein S6 ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:28492532 NCBI chr11:31,295,358...31,348,483
Ensembl chr11:31,295,614...31,348,484
JBrowse link
G Olig1 oligodendrocyte transcription factor 1 ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:28492532 NCBI chr11:30,514,379...30,516,521
Ensembl chr11:30,514,379...30,516,521
JBrowse link
G Olig2 oligodendrocyte transcription factor 2 ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:28492532 NCBI chr11:30,475,510...30,478,886
Ensembl chr11:30,475,398...30,480,152
JBrowse link
G Paxbp1 PAX3 and PAX7 binding protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:28492532 NCBI chr11:30,272,037...30,301,504
Ensembl chr11:30,272,037...30,301,648
JBrowse link
G Pigp phosphatidylinositol glycan anchor biosynthesis, class P ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:28492532 NCBI chr11:33,682,943...33,689,071
Ensembl chr11:33,682,948...33,689,321
JBrowse link
G Rcan1 regulator of calcineurin 1 ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:28492532 NCBI chr11:31,622,208...31,702,150
Ensembl chr11:31,622,210...31,702,045
JBrowse link
G RGD1562726 similar to Putative protein C21orf62 homolog ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:28492532 NCBI chr11:30,307,842...30,325,829
Ensembl chr11:30,310,350...30,325,439
JBrowse link
G Ripply3 ripply transcriptional repressor 3 ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:28492532 NCBI chr11:33,648,471...33,656,587
Ensembl chr11:33,648,486...33,656,584
JBrowse link
G Runx1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:28492532 NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
JBrowse link
G Scaf4 SR-related CTD-associated factor 4 ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:28492532 NCBI chr11:29,460,479...29,521,153
Ensembl chr11:29,465,106...29,521,153
JBrowse link
G Setd4 SET domain containing 4 ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:28492532 NCBI chr11:32,829,509...32,859,162
Ensembl chr11:32,838,063...32,858,243
JBrowse link
G Sim2 SIM bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:28492532 NCBI chr11:33,414,218...33,453,663
Ensembl chr11:33,414,218...33,453,663
JBrowse link
G Slc5a3 solute carrier family 5 member 3 ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:28492532 NCBI chr11:31,313,847...31,316,293
Ensembl chr11:31,295,476...31,318,883
JBrowse link
G Smim11 small integral membrane protein 11 ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:28492532 NCBI chr11:31,533,257...31,543,002
Ensembl chr11:31,532,764...31,543,002
JBrowse link
G Sod1 superoxide dismutase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:28492532 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
JBrowse link
G Son SON DNA and RNA binding protein ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:28492532 NCBI chr11:30,850,890...30,923,167
Ensembl chr11:30,892,005...30,923,167
JBrowse link
G Synj1 synaptojanin 1 ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:28492532 NCBI chr11:30,192,629...30,269,277
Ensembl chr11:30,192,629...30,269,220
JBrowse link
G Tiam1 TIAM Rac1 associated GEF 1 ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:28492532 NCBI chr11:29,031,347...29,380,153
Ensembl chr11:29,031,348...29,159,901
JBrowse link
G Tmem50b transmembrane protein 50B ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:9536098 PMID:17576681 PMID:28492532 PMID:29106381 NCBI chr11:30,804,835...30,837,675
Ensembl chr11:30,804,837...30,837,661
JBrowse link
G Ttc3 tetratricopeptide repeat domain 3 ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:28492532 NCBI chr11:33,689,119...33,788,976
Ensembl chr11:33,688,952...33,788,975
JBrowse link
G Urb1 URB1 ribosome biogenesis homolog ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:28492532 NCBI chr11:30,004,539...30,065,315
Ensembl chr11:30,004,539...30,065,363
JBrowse link
G Vps26c VPS26 endosomal protein sorting factor C ISO ClinVar Annotator: match by term: Immunodeficiency 28 ClinVar PMID:28492532 NCBI chr11:33,813,467...33,841,883
Ensembl chr11:33,792,389...33,841,447
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    syndrome 9686
      primary immunodeficiency disease 3831
        immunodeficiency 28 49
Path 2
Term Annotations click to browse term
  disease 18133
    Developmental Disease 12879
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11579
        genetic disease 11109
          monogenic disease 8599
            autosomal genetic disease 7602
              autosomal recessive disease 4638
                immunodeficiency 28 49
paths to the root