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DOID:0050737 - autosomal recessive disease
Disease Ontology Definition:An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop.
Synonyms:
Xenbase Genes

kng1, lrp1, tnik, mfn2, il12b, cd3g, tjp2, tf, foxe3, hoxa1, apc, stat3, rorc, met, aqp2,
ghr, kremen1, f2, tnnt1, tnfsf11, gdf5, tnxb, il7r, mfrp, slc4a11, stat1, csf3r, tnfrsf11a, cdh3, fgf5,
gli1, wnt10b, prickle2, ncf2, fgf23.2, six6, tecta.2, fgb, sox18, cd19, pdx1, slc12a5, bmpr1b, dhh, esrrb,
crb1, nppa, pax6, mc2r, ihh, bves, slc9a1, ca2, mip, fshb, ezr, ahsg, spink2, tp53rk, mmp1,
lrp5, mapkbp1, ifngr2.1, nr2e3, ins, lrp2, lhb, pitx3, slc26a3.2, nphp1, mybpc1, slc5a5, hes7.2, vdr, nphp4.2,
tfrc, casp8, nphs1, nphp3, nr1h4, lfng, tgfb1, trac, sh3tc2, zbtb24, smn1, tbce, gjb3, rab18, itga6,
cav1, atp8b1, znf423, il21r, lmnb2, rab27a, ror1, tubb2b, ror2, ak2, slc25a1, cntn1, malt1, hpca, acta1,
lox, megf10, aldh7a1, nefl, dsp, adamts2, triobp, myo15a, rax, smarcal1, tbcd, fgd4, plk4, cd36, atrip,
atm, vhl, myo7a, foxi1, clcf1, kptn, asah1, rax2, lrp4, alg2, ifnar2.1, prkdc, flnb, des.1, sumf1,
ndufv1, tusc3, mmp20, alx4, grip1, dlx5, alx1, cp, egr2, erbb3, vps13b, slc24a5, vsx2, prom1, phox2a,
ocln, cftr, hps3, adar, pkhd1, hps6, prdm5, hycc1, ifngr2.2, slc26a3.1, ifnar2.2, cox6a1, ppib, kdm5b, slc12a3,
camk2a, neurog3, hes7.1, myo18b, ikzf1, mpz, serpinf2, tmie, trmt10c, intu, rbm28, des.2, wdr19, dnah1, tpo,
fgf23.1, pla2g6, lmna, insr, ptprq, aipl1, bbs2, lingo1, slc37a4, trem2, traip, crlf1, b2m, cd79a, gmppb,
lrig2, ntrk1, ppt1, elac2, pxdn, vps13d, tnfrsf11b, kcnv2, ctsc, arl6, evc2, chrm3, prkra, scarf2, antxr2,
agpat2, st3gal3, snap29, hps4, opa3, ap4s1, cdin1, mplkip, trim2, cyp27b1, aldh3a2, ncf4, osgep, nbn, sgcb,
cfap300, kars1, pepd, fh, rnaset2, gfi1b, pomt1, lyrm4, fars2, nars2, tdrd7, cog6, hk1, entpd1, edar,
mrpl3, gnptg, rnaseh2a, brf1, cd81, rspo2, spint2, dcps, ndufs4, p2ry12, pigp, slc45a2, ergic1, stim1, scarb2,
bsnd, gnpat, pgm1, cnga3, usb1, ggt1, scnn1b, ap4b1, gpsm2, xylt1, strc, sgcd, ttc7a, ggcx, ercc2,
ikbkb, mpzl2, plpbp, erlin2, cog5, slc26a4.3, tdp1, adcy1, lrba, gorab, por, dnajb2, lpl, pigc, stx11,
bbs4, cenpe, dpagt1, cep63, sucla2, cln8, dclre1c, cep83, dync2i2, slc19a2, sdccag8, micu1, mbtps2, ak7, fbxo31,
ca8, prdm12, lama2, pex10, nin, zmpste24, neb, galnt3, tor1aip1, bbs9, jph1, lrmda, foxn1, grid2, ndst1,
st3gal5, pygm, slc45a1, cog8, uba5, ano10, gjb2, rars1, lars2, cntnap2, synj1, ripply2.1, zap70, sgcg, ndufb9,
bscl2, cnnm4, adam22, lins1, cers3, ush2a, col25a1.1, ccdc28b, ctps1, pth1r, trmt5, cdh23, itk, bloc1s6, clic5,
aimp1, mtpap, wars2, rogdi, emg1, hadha, cyb5a, pick1, pnpla6, cyba, aldh4a1, pomgnt1, dpys, cln5, ung,
ercc5, kif1a, b4galnt1, tfg, espn, cdc14a, slc12a6, agps, atp6v0a2, cpa6, ndufs1, reep2, ddhd1, gch1, eif2b3,
slc46a1, fbxl4, bfsp2, uroc1, vps45, chsy1, exosc8, sepsecs, atcay, gtf2e2, rom1, cog2, nthl1, nsun2, orai1,
auh, ndufv2, pigl, tbc1d20, orc6, ednrb, ftcd, abcg5, ngly1, g6pc1, relb, fkrp, ddhd2, slc6a17, lig4,
cidec, acsf3, tsfm, gale, fmo3, epm2a, bbs5, dolk, stub1, eprs1, setx, ift122, rho, exosc3, gmnn,
tdp2, alg8, aaas, pnpt1, mccc1, eif2ak4, ccn6, cpn1, tmem126a, dhodh, tsga10, ssr4, taf2, qdpr, rpe65,
cfap69, gjc2, sars1, bbs10, tsen54, vps37a, clpp, stt3b, ddx11, pex26, ap4m1, mpc1, nfkb2, cfap410, cbx2,
rrm2b, cog7, ears2, cib1, nubpl, cryab, dstyk, f10, slc25a20l, klhl7, fktn, ddb2, vldlr, tmem165, eif2b1,
lars1, gle1, glrx5, ndufb3, proc, ufm1, b4galt7, mpi, stt3a, pomgnt2, far1, hba2, crbn, eif2b2, b3galt6,
gatm, mrps7, sec23b, cdc6, lztfl1, iyd, ndufs2, iqcb1, pcbd1, serpinc1, dnajc6, vac14, mkks, ndufaf5, cdc45,
ddx59, mlc1, arl6ip1, samhd1, gss, cars2, dpm1, tdo2, cdca7, acat1, pmpca, msh2, g6pc3, nans, spr,
gnb5, hps1, xpa, gdap1, gns, mgat2, mboat7, mtfmt, twnk, bbs1, lbr, agk, bin1, hspd1, grm1,
bfsp1, pros1, atrx, dhtkd1, lep, slitrk6, scnn1g, fat4, ptprc, vps33b, lmf1, abcg8, dync2li1, tbc1d24, lmbr1,
gck, btd, ift52, blm, cln6, bola3, ampd2, reln, zc3h14, fbln5, gfm1, nek1, pcsk1, lamb3, slc13a5,
tk2, tsen15, ddr2, brdt, edaradd, snx14, nt5e, gmppa, prdm8, hgsnat, pomk, kl, slc35c1, lama3, glis3,
fxn, prss12, trim37, cpamd8, esrp1, tmem67, wdr35, suox, itga7, cib2, pex1, map3k20, srd5a3, prph2, syt14,
nfkb1, mccc2, cilk1, irf8, hsd17b3, nectin1, alg3, eif2b5, antxr1, rasgrp2, msh6, lhcgr, epcam, pcdh15, papss2,
adamtsl4, idua, ercc4, g6pc3.2, nags, cep57, tmc1, dock8, glyctk, ap3b1, kctd7, meiob, rab3gap2, alms1, enpp1,
gtpbp3, ap4e1, pank2, lipe, myo5b, itgb2, tyr, cep152, abcb11.2, opa1, smoc1, nsd1, oca2, myh3, p3h1,
ank3, ostm1, hpse2, vps13a, whrn, crb2, eif2ak3, ecel1, rubcn, kynu, lamc2, gpx4, abhd12, eps8l2, dcxr,
nek8, ift81, dock2, dgke, spart, rdx, dzip1l, xpc, slc25a26, pgm3, sacs, isca2, ltbp4, vipas39, myh7,
evc, nfix, wrn, aldh1a3, exosc9, iba57, npr2, ndrg1, chst3, rtf1, xylt2, tyk2, slc6a5, wbp2, rusc2,
c3h12orf4, tbxas1, tmprss3, scn1b, fancm, cers1, bckdk, lrsam1, clpb, ildr1, taf4b, clcn7, cwf19l1, apc2, setd2,
rab3gap1, cldn14, grn, tymp, bbs7, scnn1a, cavin1, inpp5k, polh, coasy, tars2, necap1, atp13a2, abcc8, eps8,
gp9, kif1c, cln3, tpp1, slc26a2, ndufs3, khk, eif2b4, recql4, orc1, mutyh, dock7, lztr1, aimp2, pms2,
col6a3, mlph, col6a1, mfsd8, pmm2, ncf1, gm2a, nup133, lman2l, elmod3, tti2, sec23a, ndufaf3, tmprss15, hgf,
slc26a5, ttc8, mrpl44, mrps22, ppip5k2, uchl1, lrat, ercc8, galns, aco2, abca4, mtr, slc35a1, hnmt, glb1,
lct.2, pcyt1a, agl, itpa, tyrp1, ift27, slc25a4, gemin4, nxn, serpinb6, stra6, slc25a12, hexb, gclc, sat1,
cfl2, tecr, dpm2, gne, vrk1, med23, micos13, myo5a, f13a1, impa1, frem2, rnaseh2b, sbf2, f12, zfyve26,
sgsh, pmfbp1, dguok, atp6v1e1, otof, ctns, alg1, nup107, ndufa11, mipep, prx, pomt2, hadh, cyp2u1, b4gat1,
ndufaf1, nipal4, ercc6, rpgrip1, unc13d, med17, ndufa1, mgme1, sptbn2, st14, sh3pxd2b, pex5, rxylt1, hadhb, ndufs6,
c4h19orf12, ercc3, polr1c, crtap, adgrv1, ufc1, cps1, b3gat3, emc1, hsd17b4, ube3b, f13b, trmu, ogdh, nhlrc1,
bub1b, mme, ifih1, mcm4, slc1a1, pnp, vps53, rgs9bp, slc39a8, mttp, fan1, tmem231, tecta, rnaseh1, trim32,
lrrc8a, lyst, b3galnt2, cog1, col12a1, myo6, wdr72, ripk1, orc4, herc2, atr, polr3a, atg5, clip1, dcdc2,
cenpj, plcd1, gan, dse, ngf, lonp1, slc25a13, ap3b2, tgm1, ryr1, efemp2, adamts9, sbf1, pex13, ush1g,
itgb4, fermt3, tcap, lgi4, cyp2r1, msh3, rnf216, gtf2h5, fa2h, bloc1s3, pigt, ift80, crppa, cdt1, pex12,
bcs1l, ift74, aptx, b4galt1.2, rft1, ca12, irf2bp2, pex7, dag1, pik3r5, pycr1, aspa, flvcr2, gcdh, pex2,
rag2, fgfr2, mc1r, ush1c, fgfr1, stat3.2, slc26a2.2, invs, ift140, ift172, mks1, cep290, prf1, wwox, tcirg1,
slc19a3.2, tulp1, lhfpl5, lmod3, mttp.2, banf1, tprkb, sugct, bpnt2, elp2, gnrhr, cradd.2, myh2, dgat1, dync2h1,
rnf168, g6pc1.2, aldh18a1, xpnpep3, kcnj10, alg12, washc5, cth, ddost, taf13, sigmar1, lss, f7, erlin1, c7h12orf57,
cc2d1a, gba2, polr3b, mrps16, wdr73, otoa, tmc6, dtnbp1, rsrc1, slc25a38, cplx1, pgap1, wdpcp, pip5k1c, vkorc1,
mtrr, stx3, tbc1d20.2, tecpr2, dna2, gp1bb, med25, rpgrip1l, naga, uvssa, f13bl, mlh1, marveld2, tmem199, gins1,
dnajc19, tent5a, scyl1, akr1c2, trappc9, sprtn, aprt, cradd.1, ndufaf4, gopc, mars2, bbip1, prodh, spg11, gosr2,
traf3ip1, b4galt1.1, cep120, man1b1, capn3, ctsf, ctsk, cad, proc.2, hells, ddr2l, cep78, acad9, lage3, eral1,
cyp4f22, edc3, tbc1d23, hfm1, ercc1, akr1c4, foxred1, cyp7b1, sil1, wnt7a, bltp1, stac3, ctsd, tsen2, alox12b,
cc2d2a, ift43, chuk, hax1, pex11b, mogs, stat5b, washc4, sema4a, vti1a, pklr, sqstm1, epg5, add3, KIAA0586,
lct.1, hps5, trappc11, tsen34, alg11, kifbp, trip11, lamb2, rgs9bpl, tonsl, cryaa, hars2, slc29a3, fam20a, slc25a20,
obsl1, jagn1, ano5, rbbp8, chkb, pnkp, esco2, fmn2, rgs9, syne1, gnptab, tbc1d24.2, ndufa13, bbs12, cd40,
ripor2, tex14, col25a1.2, anks6, cisd2, trappc9.2, naglu, tmem132e, ndufaf2, ttn, myo3a, rp1, slc52a3, aloxe3, plekhm1,
spg7, ap5z1, mettl23, kif7, szt2, cerkl, p2rx1, rmnd1, cngb3, cep164, atp8a2, alg9, s1pr2, gpc6, msrb3,
sardh, nbeal2, plekhg5, pjvk, serac1, szt2, vwa3b, adgrg1, abca12, grxcr1, dcaf17, mtmr2, clrn1, plcb1, vars2,
tpm3, gipc3, fig4, adamtsl2, duox2, cyp11b2, cfap44, pts, ttc21b, dchs1, pex6, clcnkb, pdzd7, grik2, otulin,
dync2i1, grxcr2, ltbp3, tspear, prss56, hepacam, ubr1, lck, pik3r1, cntn2, tpm2, tg, hars1, dysf, card11,
kcnj11, col6a2, cog4, rag1, large1, rbm8a, aars2, mpdu1, frrs1l, lrtomt, wdr81, ighmbp2, col2a1, sgca, adat3,
grap, tufm, chrnb1, pcnt, col4a1, surf1, galt, enam, pam16, mpv17, selenon, plg, ifngr1, cnpy3, gba1,
wdr4, tmem107, timmdc1, poglut1, nsmce2, prg4, znf469, zmynd15, dmp1, sp110, plec, sfxn4, il17ra, pop1, rnaseh2c,
mag, pnpla1, cfap418, cfap43, bdp1, hspg2, abcc6, mesp2, loxhd1, col17a1, slc9a3, tex15, arsg, tyrobp, ripply2.2,
glis2, col11a2, ckap2l, mtrfr, cd79b, rho.2, otog, g6pc1.3, otogl, tctn3, apoc2, hyls1, slc26a3.3, slc26a4.1, slc26a4.2,
col11a1, fam20a.2, cabp2, col7a1, plvap, tnfsf12, tprn
MONDO:0006025 - autosomal recessive disease |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal genetic disease (is_a)