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DOID:612 - primary immunodeficiency disease
Disease Ontology Definition:An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation.
Synonyms: hypoimmunity, immune deficiency disorder, immunodeficiency syndrome
Xenbase Genes
:
c2,
gata2,
tcf3,
prkcd,
c4a,
stat4,
psmb8,
ms4a1,
aicda,
il10,
il6,
il12b,
cd3g,
psmb9,
stat3,
[+]
rorc, tap2, il7r, stat1, il2rg, ncf2, ctla4, runx1, cd19, hnf1a, ifngr2, ins, c3, c5, tap1,
mif, tfrc, trac, cd40lg, cxcr4, il21r, tapbp, arpc1b, nfkbia, ak2, malt1, sh2b3, nfkbil1, ifnar2, prkdc,
rac2, ptpn22, cd247, ifngr2.2, ifnar2.2, ikzf1, chd7, cd3e, b2m, cd79a, ncf4, mhc2-dcb, cd81, blnk, gc,
stim1, bcl10, xiap, ikbkb, ada, lrba, bank1, plcg2, atp6ap1, dclre1c, foxn1, unc119, zap70, ctps1, itk,
cyba, ung, orai1, relb, lig4, atp2c1, c9, nfkb2, cib1, ap1s3, c6.2, samhd1, cybc1, cybb, ikbkg,
c8a, ptprc, slc35c1, faslg, stat2, nfkb1, dock8, itgb2, copa, card14, dock2, pgm3, ciita, rfxap, bcl11b,
tyk2, tnfrsf1a, atp6ap1.2, c8b, ncf1, dnase1l3, rfxank, msn, pmp22, ifih1, mcm4, pnp, lrrc8a, itpr3, ripk1,
fermt3, irf2bp2, rag2, stat3.2, tmc6, dnase1, gins1, nlrc4, slc22a4, sting1, c7, nlrp3, pomp, ada.2, mhc1-uaa,
cfp, rfx5, cfi, c6, cd40, irf7, traf3ip2, itgam, padi4, lck, pik3r1, sh2d1a, card11, rag1, coro1a,
btk, psmb4, ifngr1, il17ra, foxp3, tnfaip3, aire, cd79b, tnfsf12, c5.2, il2rb, lat, LOC116406716, tnfrsf4
| MONDO:0003778 - inborn error of immunity |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
immune system disease (is_a)