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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,
fgg,
pygl,
prkcd,
fga,
polg,
fras1,
hoxc13,
psmb8,
ms4a1,
slc12a3l,
aicda,
atp6v1a,
[+]
wnt3, kng1, lrp1, tnik, mfn2, il12b, cd3g, tjp2, tf, foxe3, hoxa1, apc, psmb9, 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, hnf1a, mc2r, ihh, bves, slc9a1, ca2, mip, fshb, ezr, ahsg,
spink2, tp53rk, mmp1, lrp5, mapkbp1, ifngr2.1, nr2e3, ins, lrp2, lhb, pitx3, skic2, slc26a3.2, nphp1, mybpc1,
slc5a5, hes7.2, vdr, prickle1, nphp4.2, tfrc, casp8, nphs1, nphp3, nr1h4, lfng, tgfb1, trac, sh3tc2, zbtb24,
smn1, tbce, gjb3, rab18, itga6, cav1, atp8b1, znf423, il21r, arpc1b, 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, prph, mrps2, gfpt1, vhl, myo7a, foxi1, clcf1, kptn,
asah1, rax2, trit1, lrp4, alg2, ifnar2.1, prkdc, flnb, des.1, sumf1, ndufv1, gyg1, tusc3, mmp20, alx4,
grip1, dlx5, alx1, cp, egr2, erbb3, vps13b, slc24a5, vsx2, prom1, phox2a, ocln, cftr, hps3, adar,
pkhd1, cd247, hps6, prdm5, hycc1, ifngr2.2, slc26a3.1, ifnar2.2, cox6a1, ppib, kdm5b, slc12a3, camk2a, neurog3, hes7.1,
myo18b, ikzf1, col11a2, mpz, serpinf2, tmie, fastkd2, trmt10c, cd3e, intu, rbm28, des.2, wdr19, nefh, dnah1,
tpo, fgf23, pla2g6, lmna, insr, ptprq, aipl1, bbs2, lingo1, slc37a4, trem2, traip, crlf1, b2m, cd79a,
gmppb, lrig2, ntrk1, musk, ppt1, elac2, pxdn, vps13d, slc18a2, tnfrsf11b, kcnv2, ctsc, arl6, evc2, chrm3,
sco2, prkra, scarf2, antxr2, agpat2, st3gal3, snap29, hps4, opa3, ap4s1, cdin1, mplkip, trim2, cyp27b1, aldh3a2,
ncf4, osgep, nbn, sgcb, txn2, cfap300, kars1, pepd, fh, rnaset2, gfi1b, pomt1, lyrm4, fars2, atp5f1a,
nars2, tdrd7, cog6, hk1, entpd1, edar, mrpl3, 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, 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, nrxn1, dync2i2, slc19a2, sdccag8, micu1, mbtps2, ak7, fbxo31, ca8, prdm12,
lama2, pex10, nin, zmpste24, neb, galnt3, tor1aip1, bbs9, cox10, jph1, lrmda, foxn1, pex3, grid2, ndst1,
st3gal5, pygm, slc45a1, cog8, uba5, ano10, gjb2, rars1, lars2, cntnap2, synj1, ripply2.1, zap70, sgcg, ndufb9,
bscl2, cnnm4, xdh, adam22, lins1, cers3, ush2a, col25a1.1, ccdc28b, ctps1, pth1r, trmt5, cdh23, itk, bloc1s6,
mre11, clic5, aimp1, mtpap, wars2, rogdi, emg1, hadha, cyb5a, pick1, pnpla6, cyba, aldh4a1, pomgnt1, dpys,
cln5, ung, ercc5, kif1a, b4galnt1, tfg, espn, cdc14a, slc12a6, cyp11a1, agps, atp6v0a2, cpa6, ndufs1, reep2,
ddhd1, gch1, eif2b3, slc46a1, fbxl4, 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, fmo3, epm2a, bbs5, pigv, dolk, strada, stub1,
eprs1, setx, ift122, rho, exosc3, gmnn, tdp2, alg8, aaas, pnpt1, mccc1, eif2ak4, ccn6, cpn1, tmem126a,
dhodh, tsga10, ssr4, taf2, qdpr, rpe65, cfap69, xrcc1, 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, cdca7, acat1, pmpca, msh2, g6pc3, nans, spr, gnb5, hps1,
xpa, gdap1, atp5f1d, gns, mgat2, mboat7, mtfmt, twnk, bbs1, lbr, chrne, agk, bin1, hspd1, grm1,
bfsp1, gbe1, pros1, atrx, dhtkd1, lep, slitrk6, scnn1g, fat4, ptprc, vps33b, lmf1, abcg8, dync2li1, tbc1d24,
lmbr1, gck, btd, coch, ift52, blm, cln6, bola3, ampd2, reln, slc6a3, zc3h14, fbln5, gfm1, nek1,
pcsk1, cast, 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, stat2, znf592,
cib2, pex1, map3k20, srd5a3, prph2, syt14, nfkb1, mccc2, cilk1, irf8, hsd17b3, nectin1, 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, cep152, abcb11.2, opa1, smoc1, nsd1, oca2, myh3, p3h1, ank3, ostm1, hpse2, cox15, vps13a,
whrn, crb2, eif2ak3, ecel1, rubcn, kynu, lamc2, gpx4, abhd12, eps8l2, dcxr, nek8, ift81, dock2, dgke,
spart, rdx, rapsn, dzip1l, xpc, slc25a26, pgm3, sacs, isca2, ltbp4, vipas39, myh7, evc, nfix, wrn,
aldh1a3, exosc9, iba57, pex14, npr2, ndrg1, chst3, rtf1, xylt2, cstb, tyk2, slc6a5, wbp2, rusc2, ferry3,
tbxas1, tmprss3, scn1b, fancm, phkg2, 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, katnb1, lztr1, aimp2,
pms2, col6a3, mlph, col6a1, mfsd8, pmm2, ncf1, gm2a, mrps34, nup133, lman2l, elmod3, tti2, sec23a, ndufaf3,
tmprss15, hgf, pmpcb, slc26a5, yme1l1, ttc8, mrpl44, mrps22, ppip5k2, uchl1, lrat, ercc8, galns, pfkm, aco2,
abca4, mtr, slc35a1, hnmt, glb1, lct.2, pcyt1a, agl, itpa, tyrp1, ift27, slc25a4, nop10, gemin4, nxn,
serpinb6, stra6, slc25a12, hexb, gclc, sat1, cfl2, tecr, parn, dpm2, coa6, top3a, gne, vrk1, med23,
micos13, myo5a, f13a1, impa1, frem2, rnaseh2b, sbf2, f12, zfyve26, sgsh, pmfbp1, myo1e.1, nde1, dguok, atp6v1e1,
otof, ctns, alg1, sod1, nup107, ndufa11, mipep, prx, pomt2, hadh, cyp2u1, b4gat1, mecr, ndufaf1, nipal4,
ercc6, rpgrip1, unc13d, acox1, med17, ndufa1, mgme1, sptbn2, st14, sh3pxd2b, pex5, rxylt1, hadhb, ndufs6, c4h19orf12,
ercc3, polr1c, crtap, adgrv1, ufc1, cps1, b3gat3, cdk5, emc1, hsd17b4, ube3b, f13b, trmu, ogdh, nhlrc1,
bub1b, lamb1, mme, ifih1, pex16, 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, cdan1, 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, slc38a8, xpnpep3, coa5, kcnj10, alg12, washc5, pigy, pet100, cth,
ddost, taf13, sigmar1, lss, f7, tbc1d32, 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, ank1, mlh1, marveld2, tmem199, gins1, dnajc19, tent5a, scyl1, akr1c2, trappc9, sprtn,
liph, aprt, cradd.1, ndufaf4, gopc, mars2, bbip1, prodh, spg11, gosr2, traf3ip1, b4galt1.1, cep120, man1b1, capn3,
ctsf, ctsk, cad, proc.2, hells, tmtc3, ddr2l, cep78, acad9, lage3, eral1, cyp4f22, edc3, 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.1, hps5, trappc11, 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, spg7, ap5z1, mettl23, kif7, cerkl, p2rx1, rmnd1, cngb3, cep164, rtel1, atp8a2, alg9,
dok7, s1pr2, gpc6, msrb3, sardh, nbeal2, plekhg5, cox20, 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, gaa, pik3r1,
cntn2, tpm2, tg, hars1, dysf, card11, sco1, kcnj11, col6a2, cog4, rag1, large1, rbm8a, aars2, mpdu1,
frrs1l, lrtomt, wdr81, ighmbp2, col2a1, sgca, adat3, lpar6, grap, coa7, tufm, chrnb1, pcnt, tert, col4a1,
surf1, galt, enam, psmb4, pgap2, pam16, mpv17, selenon, plg, ifngr1, cnpy3, gba1, wdr4, tmem107, timmdc1,
poglut1, nsmce2, prg4, znf469, zmynd15, dmp1, sp110, plec, sfxn4, il17ra, pop1, rnaseh2c, cox8a, mag, 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, slc26a4.1, slc26a4.2, col11a1,
fam20a.2, cabp2, col7a1, plvap, tnfsf12, tprn, epb42
| 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)