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
Accession: DOID:0112003
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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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ABCD1
ATP binding cassette subfamily D member 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:121,545,690...121,564,117
Ensembl chr X:121,545,586...121,563,186
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ARHGAP4
Rho GTPase activating protein 4
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:121,754,965...121,772,209
Ensembl chr X:121,755,221...121,772,541
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ATP2B3
ATPase plasma membrane Ca2+ transporting 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:121,355,217...121,405,245
Ensembl chr X:121,361,239...121,403,609
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ATP6AP1
ATPase H+ transporting accessory protein 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:122,133,314...122,140,949
Ensembl chr X:122,133,325...122,140,447
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AVPR2
arginine vasopressin receptor 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:121,751,606...121,754,771
Ensembl chr X:121,752,027...121,754,771
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BCAP31
B cell receptor associated protein 31
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:121,515,417...121,550,373
Ensembl chr X:121,507,084...121,545,263
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BGN
biglycan
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:121,330,371...121,334,634
Ensembl chr X:121,330,259...121,334,634
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BRCC3
BRCA1/BRCA2-containing complex subunit 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:123,081,262...123,143,509
Ensembl chr X:123,081,050...123,140,133
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CCNQ
cyclin Q
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:121,409,169...121,418,666
Ensembl chr X:121,409,625...121,418,395
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CLIC2
chloride intracellular channel 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:123,268,867...123,291,467
Ensembl chr X:123,268,867...123,291,467
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CMC4
C-X9-C motif containing 4
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:123,071,076...123,080,799
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DKC1
dyskerin pseudouridine synthase 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:122,838,787...122,850,870
Ensembl chr X:122,838,645...122,850,884
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DNASE1L1
deoxyribonuclease 1 like 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:122,101,992...122,109,240
Ensembl chr X:122,101,992...122,109,165
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DUSP9
dual specificity phosphatase 9
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:121,460,116...121,472,605
Ensembl chr X:121,460,895...121,472,608
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EMD
emerin
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:122,050,309...122,052,629
Ensembl chr X:122,050,455...122,052,524
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F8
coagulation factor VIII
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:122,894,974...123,046,343
Ensembl chr X:122,885,162...123,043,414
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F8A1
coagulation factor VIII associated 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:122,914,362...122,916,199
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FAM3A
FAM3 metabolism regulating signaling molecule A
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:122,205,043...122,212,626
Ensembl chr X:122,205,683...122,212,195
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FAM50A
family with sequence similarity 50 member A
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:122,148,234...122,158,172
Ensembl chr X:122,148,282...122,154,807
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FLNA
filamin A
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:122,058,303...122,083,467
Ensembl chr X:122,061,455...122,083,203
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FUNDC2
FUN14 domain containing 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:123,046,451...123,064,580
Ensembl chr X:123,045,954...123,064,580
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G6PD
glucose-6-phosphate dehydrogenase
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:122,217,317...122,231,862
Ensembl chr X:122,205,683...122,231,678
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GAB3
GRB2 associated binding protein 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:122,741,199...122,822,446
Ensembl chr X:122,741,197...122,779,143
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GDI1
GDP dissociation inhibitor 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:122,141,633...122,146,724
Ensembl chr X:122,141,566...122,146,824
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H2AB1
H2A.B variant histone 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:122,910,412...122,913,373
Ensembl chr X:122,910,968...122,913,382
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H2AB3
H2A.B variant histone 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:123,309,084...123,310,276
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HAUS7
HAUS augmin like complex subunit 7
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:121,264,824...121,296,712
Ensembl chr X:121,266,584...121,297,076
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HCFC1
host cell factor C1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:121,790,585...121,815,395
Ensembl chr X:121,791,660...121,814,715
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IDH3G
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:121,599,368...121,608,707
Ensembl chr X:121,599,368...121,608,643
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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 PMID:25741868 PMID:28993958 PMID:30422821 PMID:31965418 PMID:33224153 More...
NCBI chr X:122,232,052...122,253,499
Ensembl chr X:122,235,878...122,250,562
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IRAK1
interleukin 1 receptor associated kinase 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:121,853,340...121,862,582
Ensembl chr X:121,819,432...121,862,576
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L1CAM
L1 cell adhesion molecule
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:121,708,695...121,722,819
Ensembl chr X:121,708,894...121,733,365
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LAGE3
L antigen family member 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:122,185,300...122,186,498
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LOC100683646
EKC/KEOPS complex subunit LAGE3-like
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:122,566,522...122,567,799
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LOC119868658
small nucleolar RNA SNORA56
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
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LOC611642
interleukin-9 receptor
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr 6:40,425,072...40,437,917
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MECP2
methyl-CpG binding protein 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:121,866,721...121,876,088
Ensembl chr X:121,873,218...121,932,994
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MPP1
MAGUK p55 scaffold protein 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:122,851,667...122,878,865
Ensembl chr X:122,851,667...122,879,394
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MTCP1
mature T cell proliferation 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:123,071,076...123,080,695
Ensembl chr X:123,074,956...123,080,793
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NAA10
N-alpha-acetyltransferase 10, NatA catalytic subunit
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:121,777,658...121,782,097
Ensembl chr X:121,727,573...121,788,860
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OPN1LW
opsin 1, medium wave sensitive
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:121,974,552...121,987,418
Ensembl chr X:121,974,552...121,987,418
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PDZD4
PDZ domain containing 4
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:121,616,122...121,647,326
Ensembl chr X:121,616,114...121,647,697
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PLXNA3
plexin A3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:122,165,460...122,180,727
Ensembl chr X:122,167,144...122,180,951
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PLXNB3
plexin B3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:121,577,564...121,593,294
Ensembl chr X:121,580,073...121,593,287
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PNCK
pregnancy up-regulated nonubiquitous CaM kinase
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:121,489,041...121,491,356
Ensembl chr X:121,489,040...121,491,431
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RAB39B
RAB39B, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:123,245,227...123,251,283
Ensembl chr X:123,247,760...123,251,288
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RENBP
renin binding protein
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:121,782,411...121,788,928
Ensembl chr X:121,727,573...121,788,860
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RPL10
ribosomal protein L10
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:122,098,020...122,100,719
Ensembl chr X:122,098,020...122,100,719
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SLC10A3
solute carrier family 10 member 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:122,197,049...122,201,103
Ensembl chr X:122,197,289...122,200,219
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SLC6A8
solute carrier family 6 member 8
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:121,505,117...121,511,674
Ensembl chr X:121,505,141...121,510,347
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SMIM9
small integral membrane protein 9
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:122,885,491...122,893,466
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SPRY3
sprouty RTK signaling antagonist 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:123,436,201...123,624,816
Ensembl chr X:123,620,920...123,621,786
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SRPK3
SRSF protein kinase 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:121,594,992...121,599,333
Ensembl chr X:121,594,864...121,599,277
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SSR4
signal sequence receptor subunit 4
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:121,608,802...121,613,796
Ensembl chr X:121,608,944...121,613,795
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TAFAZZIN
tafazzin, phospholipid-lysophospholipid transacylase
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:122,111,608...122,125,714
Ensembl chr X:122,111,434...122,125,506
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TEX28
testis expressed 28
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:121,987,726...122,030,718
Ensembl chr X:121,986,906...121,996,306
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TKTL1
transketolase like 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:122,007,270...122,034,500
Ensembl chr X:122,007,282...122,034,255
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TMEM187
transmembrane protein 187
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:121,815,982...121,820,790
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TMLHE
trimethyllysine hydroxylase, epsilon
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:123,322,773...123,438,999
Ensembl chr X:123,324,729...123,438,947
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TREX2
three prime repair exonuclease 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:121,263,341...121,265,009
Ensembl chr X:121,258,646...121,264,555
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UBL4A
ubiquitin like 4A
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:122,195,500...122,196,579
Ensembl chr X:122,195,502...122,196,577
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VAMP7
vesicle associated membrane protein 7
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:123,717,524...123,783,781
Ensembl chr X:123,717,446...123,783,014
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VBP1
VHL binding protein 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:123,210,965...123,231,847
Ensembl chr X:123,203,722...123,231,091
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