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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


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 chr  X:124,485,076...124,501,742
Ensembl chr  X:124,485,076...124,501,741 		JBrowse link
G ARHGAP4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,641,222...124,655,312
Ensembl chr  X:124,641,226...124,655,279 		JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,318,874...124,357,653
Ensembl chr  X:124,301,713...124,357,653 		JBrowse link
G ATP6AP1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,952,532...124,960,344
Ensembl chr  X:124,952,500...124,960,343 		JBrowse link
G AVPR2 vasopressin receptor 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,638,433...124,640,969
Ensembl chr  X:124,638,523...124,640,966 		JBrowse link
G BCAP31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,456,999...124,484,923
Ensembl chr  X:124,457,001...124,484,743 		JBrowse link
G BGN biglycan ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,282,048...124,295,450
Ensembl chr  X:124,275,305...124,295,445 		JBrowse link
G BRCC3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,383,392...125,439,082
Ensembl chr  X:125,383,414...125,439,082 		JBrowse link
G CCNQ cyclin Q ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,361,003...124,370,072
Ensembl chr  X:124,361,006...124,369,867 		JBrowse link
G CLIC2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,546,451...125,560,059
Ensembl chr  X:125,546,467...125,570,523 		JBrowse link
G CMC4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,372,941...125,383,272
Ensembl chr  X:125,372,941...125,376,999 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,218,928...125,228,881
Ensembl chr  X:125,218,923...125,229,525 		JBrowse link
G DNASE1L1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,931,410...124,937,569
Ensembl chr  X:124,931,410...124,939,965 		JBrowse link
G DUSP9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,404,852...124,414,246
Ensembl chr  X:124,409,289...124,414,212 		JBrowse link
G EMD emerin ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,883,047...124,885,429
Ensembl chr  X:124,883,049...124,885,432 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,265,330...125,350,853
Ensembl chr  X:125,229,450...125,350,853 		JBrowse link
G F8A1 coagulation factor VIII-associated 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,280,978...125,282,771 JBrowse link
G FAM3A FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,015,985...125,025,119
Ensembl chr  X:125,014,714...125,025,104 		JBrowse link
G FAM50A family with sequence similarity 50 member A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,967,821...124,973,487
Ensembl chr  X:124,967,510...124,973,483 		JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,162...124,914,992 		JBrowse link
G FUNDC2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,354,032...125,366,029
Ensembl chr  X:125,354,021...125,372,610 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,029,147...125,041,040
Ensembl chr  X:125,029,150...125,041,040 		JBrowse link
G GAB3 GRB2 associated binding protein 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,158,148...125,209,080
Ensembl chr  X:125,158,154...125,209,035 		JBrowse link
G GDI1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,960,835...124,966,833
Ensembl chr  X:124,960,990...124,966,832 		JBrowse link
G H2AB1 H2A.B variant histone 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,277,575...125,280,752 JBrowse link
G H2AB2 H2A.B variant histone 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,537,401...125,540,026 JBrowse link
G HAUS7 HAUS augmin like complex subunit 7 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,234,735...124,258,133
Ensembl chr  X:124,234,736...124,258,098 		JBrowse link
G HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,673,125...124,694,846
Ensembl chr  X:124,673,128...124,694,152 		JBrowse link
G IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,528,643...124,537,570
Ensembl chr  X:124,528,585...124,537,575 		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 chr  X:125,035,575...125,056,445
Ensembl chr  X:125,036,508...125,056,453 		JBrowse link
G IL9R interleukin 9 receptor ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr 3:41,581,253...41,590,485
Ensembl chr 3:41,583,693...41,594,867 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,717,604...124,724,855
Ensembl chr  X:124,717,612...124,724,860 		JBrowse link
G L1CAM L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,595,649...124,618,292
Ensembl chr  X:124,595,651...124,618,307 		JBrowse link
G LAGE3 L antigen family member 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,001,673...125,003,206 JBrowse link
G LOC494564 medium-wave-sensitive opsin ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,816,014...124,828,225 JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,735,523...124,789,063
Ensembl chr  X:124,735,656...124,738,659 		JBrowse link
G MPP1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,230,412...125,252,384
Ensembl chr  X:125,229,450...125,350,853 		JBrowse link
G MTCP1 mature T cell proliferation 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,372,941...125,377,910
Ensembl chr  X:125,377,350...125,381,178 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,658,429...124,662,744
Ensembl chr  X:124,658,158...124,662,702 		JBrowse link
G PDZD4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,543,845...124,567,477
Ensembl chr  X:124,544,944...124,567,369 		JBrowse link
G PLXNA3 plexin A3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,982,307...124,997,098
Ensembl chr  X:124,983,943...124,997,072 		JBrowse link
G PLXNB3 plexin B3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,507,953...124,522,780
Ensembl chr  X:124,509,526...124,522,767 		JBrowse link
G PNCK pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,425,867...124,430,000
Ensembl chr  X:124,425,872...124,429,261 		JBrowse link
G RAB39B RAB39B, member RAS oncogene family ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,520,764...125,528,253
Ensembl chr  X:125,520,497...125,527,379 		JBrowse link
G RENBP renin binding protein ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,662,957...124,670,522
Ensembl chr  X:124,662,719...124,672,235 		JBrowse link
G RPL10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,927,249...124,929,791
Ensembl chr  X:124,926,772...124,929,791 		JBrowse link
G SLC10A3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,010,128...125,013,992
Ensembl chr  X:125,010,131...125,011,928 		JBrowse link
G SLC10A3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,007,121...125,009,657
Ensembl chr  X:125,007,122...125,013,980 		JBrowse link
G SLC6A8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,435,282...124,452,182
Ensembl chr  X:124,294,856...124,452,182 		JBrowse link
G SMIM9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,254,737...125,262,113
Ensembl chr  X:125,255,157...125,259,938 		JBrowse link
G SPRY3 sprouty RTK signaling antagonist 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,744,643...125,764,342
Ensembl chr  X:125,754,671...125,763,636 		JBrowse link
G SRPK3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,524,102...124,528,607
Ensembl chr  X:124,524,083...124,528,945 		JBrowse link
G SSR4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,537,545...124,541,635
Ensembl chr  X:124,537,540...124,541,637 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,940,036...124,946,275
Ensembl chr  X:124,940,031...124,946,273 		JBrowse link
G TEX28 testis expressed 28 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,828,222...124,840,093
Ensembl chr  X:124,828,225...124,834,315 		JBrowse link
G TKTL1 transketolase like 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,840,072...124,867,313
Ensembl chr  X:124,839,995...124,867,614 		JBrowse link
G TMEM187 transmembrane protein 187 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,695,050...124,699,349 JBrowse link
G TMLHE trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,601,920...125,673,716
Ensembl chr  X:125,598,116...125,673,669 		JBrowse link
G TREX2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:124,234,736...124,244,193
Ensembl chr  X:124,234,738...124,238,598 		JBrowse link
G VAMP7 vesicle associated membrane protein 7 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,863,266...125,917,232
Ensembl chr  X:125,863,292...125,917,225 		JBrowse link
G VBP1 VHL binding protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:125,485,357...125,506,781
Ensembl chr  X:125,480,808...125,506,771 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15274
    disease by infectious agent 2092
      Bacterial Infections and Mycoses 997
        bacterial infectious disease 791
          immunodeficiency 33 61
Path 2
Term Annotations click to browse term
  disease 15274
    disease by infectious agent 2092
      Bacterial Infections and Mycoses 997
        bacterial infectious disease 791
          Gram-Positive Bacterial Infections 382
            Actinomycetales Infections 309
              Mycobacterium Infections 308
                Nontuberculous Mycobacterium Infections 155
                  immunodeficiency 33 61
paths to the root