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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 : hba1, gdf9, suclg1, slc24a4, fgg, pygl, prkcd, fga, polg, fras1, hoxc13, psmb8, bmp1, ms4a1, slc12a3l, [+]
aicda, atp6v1a, wnt3, kng1, lrp1, tnik, mfn2, il12b, cd3g, tjp2, tf, foxe3, hoxa1, spry4, apc,
psmb9, stat3, rorc, met, aqp2, gdf1, ghr, kremen1, f2, tnnt1, tnfsf11, gdf5, tnxb, il7r, mfrp,
slc4a11, stat1, csf3r, tnfrsf11a, cdh3, fgf5, il17rd, gli1, wnt10b, prickle2, ncf2, fgf23.2, six6, tecta.2, fgb,
sox18, cd19, pdx1, slc12a5, bmpr1b, dhh, esrrb, crb1, nppa, pax6, hnf1a, mc2r, ihh, popdc1, slc9a1,
ca2, mip, fshb, ezr, ahsg, spink2, tp53rk, mmp1, lrp5, wnt1, tshb, mapkbp1, ifngr2, nr2e3, ins,
lrp2, lhb, pitx3, skic2, slc26a3.2, nphp1, mybpc1, slc5a5, hes7.2, vdr, prickle1, tnni3, nphp4.2, tfrc, casp8,
nphs1, nphp3, nr1h4, lfng, tgfb1, trac, sh3tc2, zbtb24, smn1, tbce, gjb3, rab18, itga6, cav1, atp8b1,
znf423, il21r, arpc1b, lmnb2, rab27a, tubgcp6, gcnt2.2, ror1, flrt3, mak, tubb2b, rab33b, ror2, ak2, slc25a1,
tubgcp4, cntn1, malt1, hpca, acta1, lox, megf10, aldh7a1, nefl, dsp, adamts2, triobp, trpm1, myo15a, rax,
prok2, mertk, smarcal1, tbcd, fgd4, il10rb, plk4, cd36, atrip, atm, prph, mrps2, gfpt1, vhl, myo7a,
foxi1, clcf1, kptn, asah1, rax2, trit1, lrp4, alg2, ifnar2, prkdc, flnb, des, sumf1, ndufv1, flrt1,
gyg1, tusc3, mmp20, alx4, grip1, dlx5, alx1, cp, egr2, erbb3, vps13b, slc24a5, vsx2, ambn, prom1,
phox2a, ocln, cftr, hps3, adar, pkhd1, cd247, hps6, prdm5, hycc1, ifngr2.2, slc26a3, ifnar2.2, cox6a1, ppib,
kdm5b, slc12a3, camk2a, neurog3, hes7, myo18b, ikzf1, col11a2, mpz, wnk1, serpinf2, tmie, fastkd2, trmt10c, cd3e,
intu, rbm28, des.2, wdr19, nefh, dnah1, tpo, fgf23, pla2g6, lmna, insr, ptprq, amt, aipl1, bbs2,
lingo1, slc37a4, trem2, traip, axl, crlf1, b2m, cd79a, vps11, gmppb, lrig2, sema3e, ntrk1, musk, ppt1,
elac2, pxdn, vps13d, slc18a2, tnfrsf11b, kcnv2, ctsc, arl6, evc2, chrm3, sco2, prkra, scarf2, antxr2, agpat2,
st3gal3, snap29, hps4, opa3, tpmt, ap4s1, cdin1, ube2t, snx10, mplkip, trim2, cyp27b1, aldh3a2, ncf4, osgep,
nbn, sgcb, txn2, arl2bp, cfap300, kars1, pepd, fh, rnaset2, afg3l2, gfi1b, pomt1, lyrm4, fars2, atp5f1a,
nars2, tdrd7, cog6, hk1, entpd1, pde6g, edar, mrpl3, colec10, gnptg, rnaseh2a, brf1, atad3a, cd81, rspo2,
pgap3, spint2, dcps, ndufs4, p2ry12, stxbp2, pigp, slc45a2, ergic1, stim1, scarb2, folr1, bsnd, gnpat, pgm1,
cnga3, bcl10, usb1, tango2, ggt1, scnn1b, ap4b1, gpsm2, grm6, xylt1, strc, sgcd, ttc7a, ggcx, ercc2,
ikbkb, mpzl2, plpbp, erlin2, cog5, slc26a4.3, tdp1, sag, adcy1, lrba, gorab, por, dnajb2, lpl, pigc,
stx11, bbs4, cenpe, dpagt1, colec11, cep63, sucla2, cln8, dclre1c, cep83, nrxn1, lipa, dync2i2, slc19a2, sdccag8,
micu1, mbtps2, ak7, fbxo31, ca8, prdm12, lama2, agrn, pex10, nin, zmpste24, sp7, neb, galnt3, tor1aip1,
bbs9, cox10, jph1, lrmda, foxn1, pex3, grid2, ndst1, st3gal5, pygm, slc45a1, cog8, uba5, ano10, gjb2,
rars1, gcsh, lars2, cntnap2, synj1, ripply2, zap70, sgcg, ndufb9, bscl2, cnnm4, gnb3, xdh, adam22, lins1,
cers3, ush2a, col25a1, ccdc28b, ctps1, pth1r, trmt5, cdh23, itk, bloc1s6, mre11, clic5, aimp1, mtpap, agbl5,
wars2, rogdi, emg1, hadha, cyb5a, pick1, pnpla6, cyba, aldh4a1, pomgnt1, dpys, cln5, ung, gnrh1, ercc5,
itgb6, kif1a, hsd11b1, b4galnt1, tfg, espn, znf408, cdc14a, atp2b2, slc12a6, pign, cyp11a1, agps, atp6v0a2, cpa6,
pde6b, ndufs1, reep2, ddhd1, gch1, eif2b3, slc46a1, fbxl4, slc5a7, bfsp2, uroc1, vps45, chsy1, exosc8, sepsecs,
atcay, gtf2e2, rom1, cog2, nthl1, nsun2, orai1, auh, dph1, ndufv2, pigl, tbc1d20, orc6, ednrb, ftcd,
abcg5, ngly1, g6pc1, relb, fkrp, ddhd2, slc6a17, lig4, cidec, acsf3, tsfm, gale, slc18a3, fmo3, epm2a,
gatad1, bbs5, pigv, dolk, strada, stub1, eprs1, setx, ift122, rho, exosc3, gmnn, tdp2, alg8, hikeshi,
aaas, pnpt1, mccc1, eif2ak4, ccn6, cpn1, tmem126a, dhodh, tsga10, ssr4, taf2, qdpr, rpe65, cfap69, xrcc1,
klhl40, 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, pcna, gle1, glrx5, ndufb3, proc, ufm1, c1qbp, nhp2, b4galt7, pex19, mpi, stt3a, pomgnt2, far1,
hba2, crbn, eif2b2, b3galt6, gatm, coa8, mrps7, sec23b, cdc6, lztfl1, iyd, ndufs2, iqcb1, pcbd1, serpinc1,
dnajc6, vac14, mkks, ndufaf5, cdc45, ddx59, mlc1, arl6ip1, samhd1, gss, pigw, cars2, dpm1, tdo2, chrna1,
cdca7, acat1, pmpca, msh2, g6pc3, nans, spr, gnb5, hps1, xpa, fancl, dusp6, gdap1, atp5f1d, gns,
mgat2, lim2, wfs1, mboat7, mtfmt, twnk, bbs1, lbr, chrne, agk, bin1, hspd1, grm1, cngb1, bfsp1,
gbe1, pros1, atrx, dhtkd1, lep, slitrk6, scnn1g, fat4, ptprc, fanci, vps33b, lmf1, abcg8, dync2li1, tbc1d24,
slx4, lmbr1, gck, btd, coch, ift52, blm, cln6, bola3, ampd2, scn4a, reln, retreg1, slc6a3, zc3h14,
fbln5, gfm1, nek1, kcnj13, pcsk1, cast, lamb3, slc13a5, tk2, atf6, tsen15, ddr2, brdt, impg2, edaradd,
chat, snx14, nt5e, gmppa, prdm8, hgsnat, pomk, kl, masp1, slc35c1, lama3, glis3, fxn, fancd2, prss12,
trim37, cpamd8, esrp1, tmem67, wdr35, suox, itga7, stat2, znf592, cib2, pex1, map3k20, srd5a3, prph2, syt14,
tacr3, nfkb1, mccc2, cilk1, irf8, fezf1, fancc, hsd17b3, nectin1, ky, alg3, eif2b5, antxr1, rasgrp2, msh6,
lhcgr, epcam, pcdh15, papss2, adamtsl4, idua, ercc4, tgm5, g6pc3.2, taco1, nags, cep57, tmc1, dock8, glyctk,
ap3b1, f5, chst8, kctd7, meiob, rab3gap2, alms1, enpp1, gtpbp3, ap4e1, pank2, lipe, myo5b, itgb2, tyr,
h6pd, cep152, abcb11.2, nt5c2, mypn, opa1, smoc1, nsd1, oca2, myh3, p3h1, ank3, ostm1, hpse2, cox15,
vps13a, gphn, whrn, crb2, eif2ak3, ecel1, chrnd, rubcn, kynu, lamc2, kiss1r, gpx4, abhd12, capn1, eps8l2,
dcxr, nek8, best1, ift81, dock2, dgke, spart, rdx, rapsn, dzip1l, xpc, slc24a1, slc25a26, tshr, pgm3,
sacs, isca2, ltbp4, vipas39, myh7, evc, nfix, wrn, aldh1a3, exosc9, iba57, pex14, npr2, ndrg1, chst3,
wdr11, rtf1, nmnat1, xylt2, cstb, tyk2, slc6a5, wbp2, sra1, gpr179, rusc2, ferry3, tbxas1, fbxo7, tmprss3,
scn1b, fancm, phkg2, cers1, bckdk, lrsam1, clpb, ildr1, taf4b, clcn7, cwf19l1, apc2, setd2, rab3gap1, cldn14,
grn, tymp, bbs7, scnn1a, cavin1, nsmf, inpp5k, polh, coasy, tars2, necap1, atp13a2, abcc8, eps8, gp9,
kif1c, cln3, tpp1, slc26a2, ndufs3, khk, eif2b4, recql4, orc1, mutyh, dock7, katnb1, lztr1, aimp2, pms2,
col6a3, mlph, col6a1, mfsd8, crybb1, pmm2, ncf1, gm2a, mrps34, nup133, lman2l, elmod3, tti2, sec23a, ndufaf3,
tmprss15, hgf, pmpcb, slc26a5, yme1l1, ttc8, mrpl44, mrps22, ppip5k2, uchl1, lrat, ercc8, galns, fanca, pfkm,
aco2, abca4, mtr, slc35a1, hnmt, glb1, lct.2, pcyt1a, agl, itpa, tyrp1, ift27, slc25a4, nop10, gemin4,
nxn, serpinb6, stra6, slc25a12, dhdds, rd3, hexb, dst, gclc, sat1, nfu1, cfl2, tecr, parn, dpm2,
gnat1, coa6, top3a, gne, vrk1, lca5, med23, micos13, myo5a, f13a1, impa1, frem2, rnaseh2b, sbf2, f12,
pmp22, zfyve26, serpinh1, sgsh, park7, pmfbp1, myo1e, nde1, dguok, atp6v1e1, otof, ctns, alg1, sod1, nup107,
ndufa11, mipep, prx, pomt2, fkbp10, hadh, cyp2u1, b4gat1, mecr, ndufaf1, nipal4, ercc6, rpgrip1, unc13d, acox1,
med17, ndufa1, mgme1, sptbn2, st14, sh3pxd2b, pex5, rxylt1, sparc, hadhb, ndufs6, c4h19orf12, ercc3, polr1c, crtap,
adgrv1, ufc1, cps1, b3gat3, cdk5, emc1, slc7a14, hsd17b4, ube3b, f13b, trmu, ogdh, nhlrc1, bub1b, lamb1,
mme, ifih1, pex16, mcm4, slc1a1, pnp, vps53, rgs9bp, glrb, slc39a8, mttp, fan1, tmem231, tecta, rnaseh1,
trim32, lrrc8a, lyst, b3galnt2, cog1, col12a1, myo6, wdr72, ripk1, orc4, grk1, herc2, atr, polr3a, atg5,
clip1, dcdc2, cpap, plcd1, gan, dse, ngf, lonp1, slc25a13, ap3b2, tgm1, ryr1, efemp2, adamts9, sbf1,
pex13, ush1g, itgb4, fermt3, tcap, cdan1, lgi4, cyp2r1, msh3, gucy2d, snca, rnf216, gtf2h5, fa2h, bloc1s3,
pigt, ift80, crppa, cdt1, pex12, bcs1l, ift74, aptx, b4galt1.2, rft1, rad51c, ca12, irf2bp2, pex7, dag1,
pik3r5, pycr1, aspa, flvcr2, gcdh, pex2, rag2, fgfr2, mc1r, ush1c, fgfr1, stat3.2, fance, slc26a2.2, invs,
ift140, ift172, mks1, cep290, gldc, prf1, wwox, tcirg1, dym, slc19a3.2, tulp1, lhfpl5, lmod3, mttp.2, banf1,
tprkb, coa3, sugct, bpnt2, elp2, gnrhr, cradd.2, myh2, dgat1, dync2h1, rnf168, g6pc1.2, aldh18a1, slc38a8, xpnpep3,
coa5, kcnj10, alg12, washc5, pigy, pet100, cth, ddost, taf13, sigmar1, lss, f7, tbc1d32, crybb3, erlin1,
ccdc115, c7h12orf57, cc2d1a, gba2, polr3b, mrps16, wdr73, otoa, tmc6, dtnbp1, rsrc1, slc25a38, cplx1, pgap1, wdpcp,
fam161a, pip5k1c, vkorc1, mtrr, stx3, tbc1d20.2, tecpr2, dna2, gp1bb, med25, rpgrip1l, naga, uvssa, f13bl, ank1,
mlh1, marveld2, tmem199, gins1, dnajc19, tent5a, scyl1, akr1c2, trappc9, sprtn, liph, aprt, klhl41, cradd, ndufaf4,
gopc, mars2, bbip1, prodh, spg11, gosr2, traf3ip1, b4galt1, cep120, man1b1, capn3, ctsf, ctsk, cad, proc.2,
hells, tmtc3, ddr2l, cep78, acad9, lage3, eral1, cyp4f22, edc3, kiz, tdrd9, tbc1d23, hfm1, ercc1, akr1c4,
foxred1, cyp7b1, sil1, wnt7a, bltp1, stac3, ctsd, tsen2, alox12b, cc2d2a, ift43, arhgef2, chuk, hax1, pex11b,
mogs, stat5b, myo1e.2, washc4, sema4a, vti1a, pklr, sqstm1, epg5, add3, skic3, KIAA0586, lct, hps5, trappc11,
chrna1.2, tsen34, dctn1, alg11, kifbp, trip11, lamb2, rgs9bpl, tonsl, cryaa, hars2, slc29a3, fam20a, slc25a20, pigo,
cox6b1, obsl1, wrap53, jagn1, ano5, rbbp8, chkb, pnkp, esco2, fmn2, rgs9, syne1, gnptab, tbc1d24.2, ndufa13,
bbs12, cd40, ripor2, tex14, col25a1.2, anks6, cisd2, naglu, tmem132e, ndufaf2, ttn, myo3a, rp1, slc52a3, aloxe3,
plekhm1, colq, spg7, ap5z1, mettl23, kif7, cerkl, p2rx1, rmnd1, cngb3, cep164, glra1, rtel1, atp8a2, alg9,
dok7, s1pr2, gpc6, msrb3, sardh, nbeal2, plekhg5, cox20, pjvk, serac1, szt2, vwa3b, adgrg1, abca12, grxcr1,
vps13c, 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, gaa,
pik3r1, cntn2, tpm2, tg, hars1, dysf, lrit3, card11, sco1, kcnj11, col6a2, cog4, rag1, large1, rbm8a,
aars2, mpdu1, frrs1l, lrtomt, wdr81, ighmbp2, col2a1, sgca, adat3, lpar6, grap, coa7, tufm, chrnb1, pcnt,
kiss1, tert, col4a1, surf1, galt, enam, brca2, psmb4, pgap2, gdf6, pam16, mpv17, selenon, plg, ifngr1,
cnpy3, gba1, wdr4, tmem107, timmdc1, poglut1, nsmce2, prg4, znf469, zmynd15, dmp1, sp110, il10ra, plec, sfxn4,
il17ra, pop1, rnaseh2c, cox8a, mag, col13a1, ccdc141, pnpla1, cfap418, cfap43, bdp1, hspg2, abcc6, mesp2, loxhd1,
col17a1, slc9a3, tex15, arsg, tyrobp, ripply2.2, glis2, cox14, mocos, ckap2l, mtrfr, cd79b, rho.2, otog, g6pc1.3,
otogl, tctn3, apoc2, hyls1, slc26a3.3, slc26a4, slc26a4.2, col11a1, fam20a.2, cabp2, col7a1, plvap, tnfsf12, tprn, epb42,
il2rb, lat, LOC101731116, mpl, mto1, nphp4, tnfrsf4
MONDO:0006025 - autosomal recessive disease |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal genetic disease (is_a)