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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 33
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Accession:DOID:0112003 term browser browse the term
Definition:A combined immunodeficiency characterized by early-onset severe infection and variable immunological abnormalities that has_material_basis_in hemizygous mutation in the IKBKG gene on chromosome Xq28. (DO)
Synonyms:exact_synonym: AMCBX1;   Atypical Mycobacterial Infection, Disseminated, X-Linked 1;   Atypical Mycobacterial Infection, Familial Disseminated, X-Linked 1;   Atypical Mycobacteriosis, Familial, X-Linked 1;   IMD33;   IMMUNODEFICIENCY 33, MYCOBACTERIOSIS, X-LINKED;   IPD2;   Immunodeficiency without Anhidrotic Ectodermal Dysplasia;   X-linked MSMD due to IKBKG deficiency;   X-linked MSMD due to NEMO deficiency;   X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency;   X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency;   X-linked mycobacterial disease, susceptibility to, 1;   isolated immunodeficiency;   pure immunodeficiency;   recurrent isolated invasive pneumococcal disease 2
 primary_id: OMIM:300636
 alt_id: MESH:C536289;   MESH:C564468;   MESH:C567070

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show annotations for term's descendants           Sort by:
immunodeficiency 33 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:615,133...634,618
Ensembl chrNW_004936809:615,139...635,990 		JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:791,275...807,448
Ensembl chrNW_004936809:791,274...807,450 		JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:396,883...466,372
Ensembl chrNW_004936809:396,733...466,524 		JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:1,179,507...1,188,172
Ensembl chrNW_004936809:1,179,464...1,188,283 		JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:789,337...790,986
Ensembl chrNW_004936809:788,286...790,954 		JBrowse link
G Bcap31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:582,689...614,800
Ensembl chrNW_004936809:582,649...615,079 		JBrowse link
G Bgn biglycan ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:375,589...389,718
Ensembl chrNW_004936809:375,543...389,756 		JBrowse link
G Brcc3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936927:341,114...380,817
Ensembl chrNW_004936927:341,253...376,700 		JBrowse link
G Ccnq cyclin Q ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:471,619...482,296
Ensembl chrNW_004936809:472,061...482,192 		JBrowse link
G Clic2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936927:514,989...543,691
Ensembl chrNW_004936927:514,899...543,693 		JBrowse link
G Cmc4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936927:317,417...341,016
Ensembl chrNW_004936927:320,833...341,021 		JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936927:134,770...144,057 JBrowse link
G Dnase1l1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:1,151,312...1,159,017
Ensembl chrNW_004936809:1,151,202...1,159,029 		JBrowse link
G Dusp9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:535,434...538,219
Ensembl chrNW_004936809:535,434...539,319 		JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:1,127,701...1,130,195
Ensembl chrNW_004936809:1,127,710...1,130,195 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936927:189,359...301,791
Ensembl chrNW_004936927:190,111...301,609 		JBrowse link
G F8a1 coagulation factor VIII associated 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936927:234,162...236,881 JBrowse link
G Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:1,248,865...1,258,894
Ensembl chrNW_004936809:1,249,823...1,258,860 		JBrowse link
G Fam50a family with sequence similarity 50 member A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:1,195,479...1,202,126 JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:1,097,288...1,123,206
Ensembl chrNW_004936809:1,097,294...1,123,201 		JBrowse link
G Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936927:304,162...318,271
Ensembl chrNW_004936927:304,197...318,271 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:1,269,900...1,285,853
Ensembl chrNW_004936809:1,269,914...1,285,889 		JBrowse link
G Gab3 GRB2 associated binding protein 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936927:68,506...93,899
Ensembl chrNW_004936927:70,923...124,164 		JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:1,188,793...1,194,816
Ensembl chrNW_004936809:1,188,628...1,194,863 		JBrowse link
G Haus7 HAUS augmin like complex subunit 7 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:321,906...350,105
Ensembl chrNW_004936809:321,497...350,110 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:827,008...853,689
Ensembl chrNW_004936809:827,031...853,644 		JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:666,231...675,279
Ensembl chrNW_004936809:666,337...675,214 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Immunodeficiency 33 OMIM
ClinVar		 PMID:11590134 PMID:15229184 PMID:16950813 PMID:18222329 PMID:20529958 More... NCBI chrNW_004936809:1,280,254...1,306,964
Ensembl chrNW_004936809:1,257,654...1,301,813 		JBrowse link
G Il9r interleukin 9 receptor ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936501:829,236...840,130
Ensembl chrNW_004936501:829,236...840,048 		JBrowse link
G Irak1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:891,407...900,311
Ensembl chrNW_004936809:890,717...900,326 		JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:736,385...768,822
Ensembl chrNW_004936809:736,319...761,973 		JBrowse link
G Lage3 L antigen family member 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:1,229,933...1,232,448 JBrowse link
G LOC101967165 histone H2A-Bbd type 2/3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936927:232,353...232,857 JBrowse link
G Mecp2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:902,938...967,771
Ensembl chrNW_004936809:911,764...966,839 		JBrowse link
G Mpp1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936927:147,448...170,435
Ensembl chrNW_004936927:147,282...170,575 		JBrowse link
G Mtcp1 mature T cell proliferation 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936927:334,017...341,016
Ensembl chrNW_004936927:334,894...341,072 		JBrowse link
G Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:812,454...817,226
Ensembl chrNW_004936809:812,390...817,288 		JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:681,412...707,932
Ensembl chrNW_004936809:679,938...707,938 		JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:1,209,787...1,226,726
Ensembl chrNW_004936809:1,209,743...1,226,728 		JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:645,569...659,850
Ensembl chrNW_004936809:644,049...659,859 		JBrowse link
G Pnck pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:553,438...557,385
Ensembl chrNW_004936809:553,431...557,427 		JBrowse link
G Rab39b RAB39B, member RAS oncogene family ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936927:492,114...498,030
Ensembl chrNW_004936927:492,099...498,294 		JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:817,392...823,926
Ensembl chrNW_004936809:817,355...823,941 		JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:1,146,994...1,149,573
Ensembl chrNW_004936809:1,146,809...1,149,618 		JBrowse link
G Slc10a3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:1,241,980...1,245,986
Ensembl chrNW_004936809:1,241,986...1,246,266 		JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:571,234...578,298 JBrowse link
G Smim9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936927:171,867...186,718 JBrowse link
G Spry3 sprouty RTK signaling antagonist 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936958:225,179...232,843
Ensembl chrNW_004936958:225,179...232,564 		JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:661,264...666,198
Ensembl chrNW_004936809:661,264...666,188 		JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:675,178...679,245
Ensembl chrNW_004936809:675,049...679,707 		JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:1,160,265...1,168,956
Ensembl chrNW_004936809:1,160,247...1,171,097 		JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:1,022,795...1,042,475
Ensembl chrNW_004936809:1,022,795...1,040,120 		JBrowse link
G Tktl1 transketolase like 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:1,048,672...1,084,125
Ensembl chrNW_004936809:1,048,672...1,083,994 		JBrowse link
G Tmlhe trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936958:64,713...113,627 JBrowse link
G Trex2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:317,655...319,293
Ensembl chrNW_004936809:318,548...319,258 		JBrowse link
G Ubl4a ubiquitin like 4A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936809:1,238,459...1,241,319
Ensembl chrNW_004936809:1,238,462...1,241,318 		JBrowse link
G Vamp7 vesicle associated membrane protein 7 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936958:345,055...393,384 JBrowse link
G Vbp1 VHL binding protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chrNW_004936927:433,598...468,191
Ensembl chrNW_004936927:433,551...469,331 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease by infectious agent 1965
      Bacterial Infections and Mycoses 946
        bacterial infectious disease 745
          immunodeficiency 33 58
Path 2
Term Annotations click to browse term
  disease 16465
    disease by infectious agent 1965
      Bacterial Infections and Mycoses 946
        bacterial infectious disease 745
          Gram-Positive Bacterial Infections 352
            Actinomycetales Infections 286
              Mycobacterium Infections 285
                Nontuberculous Mycobacterium Infections 150
                  immunodeficiency 33 58
paths to the root