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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:
| MONDO:0006025 - autosomal recessive disease |
Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Xenbase Genes
:
hba1,
gdf9,
fgg,
fga,
polg,
fras1,
hoxc13,
psmb8,
slc12a3l,
wnt3,
kng1,
lrp1,
mfn2,
cd3g,
foxe3,
[+]
hoxa1, apc, ghr, kremen1, f2, gdf5, tnxb, mfrp, slc4a11, cdh3, fgf5, gli1, wnt10b, ncf2, six6,
fgb, sox18, slc12a5, bmpr1b, dhh, nppa, pax6, mc2r, bves, slc9a1, mip, ahsg, spink2, tp53rk, lrp5,
mapkbp1, lrp2, pitx3, slc26a3.2, nphp1, mybpc1, nphp4.2, tfrc, nphs1, nphp3, tgfb1, zbtb24, smn1, tbce, rab18,
cav1, znf423, rab27a, tubb2b, slc25a1, cntn1, lox, aldh7a1, dsp, adamts2, rax, smarcal1, plk4, cd36, atrip,
atm, vhl, myo7a, foxi1, clcf1, asah1, ifnar2.1, flnb, sumf1, ndufv1, grip1, erbb3, vps13b, slc24a5, vsx2,
ocln, cftr, hps3, adar, pkhd1, hps6, slc26a3.1, ifnar2.2, slc12a3, neurog3, intu, wdr19, dnah1, tpo, lmna,
insr, bbs2, trem2, traip, crlf1, b2m, gmppb, lrig2, ntrk1, pxdn, vps13d, ctsc, arl6, evc2, scarf2,
agpat2, snap29, hps4, cdin1, mplkip, aldh3a2, osgep, nbn, sgcb, cfap300, pepd, fh, gfi1b, pomt1, tdrd7,
edar, gnptg, rnaseh2a, spint2, ndufs4, p2ry12, pigp, slc45a2, ergic1, stim1, scarb2, gnpat, ggt1, scnn1b, xylt1,
strc, sgcd, ttc7a, ggcx, ercc2, ikbkb, plpbp, slc26a4.3, gorab, por, lpl, bbs4, cenpe, cep63, cep83,
dync2i2, slc19a2, sdccag8, mbtps2, ak7, ca8, lama2, pex10, nin, zmpste24, tor1aip1, bbs9, lrmda, foxn1, grid2,
st3gal5, cog8, uba5, ano10, lars2, synj1, zap70, sgcg, ndufb9, bscl2, cnnm4, adam22, cers3, ush2a, ccdc28b,
pth1r, cdh23, bloc1s6, mtpap, rogdi, emg1, hadha, pick1, pnpla6, cyba, pomgnt1, dpys, ercc5, agps, atp6v0a2,
ndufs1, slc46a1, bfsp2, uroc1, vps45, chsy1, atcay, gtf2e2, nthl1, nsun2, orai1, ndufv2, tbc1d20.1, orc6, ednrb,
ftcd, relb, fkrp, lig4, acsf3, gale, epm2a, bbs5, stub1, setx, ift122, rho, gmnn, tdp2, aaas,
cpn1, dhodh, tsga10, ssr4, cfap69, bbs10, clpp, ddx11, pex26, cbx2, cog7, cib1, nubpl, cryab, f10,
slc25a20.2, klhl7, fktn, ddb2, vldlr, lars1, gle1, glrx5, ndufb3, proc, ufm1, b4galt7, hba2, b3galt6, sec23b,
cdc6, lztfl1, ndufs2, iqcb1, serpinc1, mkks, ndufaf5, cdc45, ddx59, mlc1, samhd1, tdo2, cdca7, acat1, pmpca,
msh2, spr, hps1, xpa, gns, twnk, bbs1, lbr, agk, grm1, bfsp1, pros1, atrx, lep, slitrk6,
scnn1g, fat4, dync2li1, tbc1d24.1, ift52, blm, reln, fbln5, gfm1, nek1, pcsk1, slc13a5, brdt, edaradd, snx14,
nt5e, gmppa, slc35c1, glis3, fxn, trim37, cpamd8, tmem67, wdr35, suox, cib2, pex1, srd5a3, syt14, irf8,
nectin1, rasgrp2, msh6, epcam, pcdh15, adamtsl4, idua, ercc4, cep57, glyctk, ap3b1, kctd7, rab3gap2, alms1, enpp1,
pank2, itgb2, tyr, cep152, abcb11.2, opa1, smoc1, nsd1, oca2, myh3, hpse2, vps13a, whrn, crb2, eif2ak3,
ecel1, rubcn, abhd12, dcxr, nek8, ift81, dzip1l, xpc, sacs, ltbp4, evc, nfix, wrn, aldh1a3, chst3,
xylt2, scn1b, fancm, bckdk, taf4b, cwf19l1, apc2, setd2, rab3gap1, bbs7, scnn1a, cavin1, inpp5k, polh, necap1,
atp13a2, gp9, kif1c, tpp1, slc26a2, ndufs3, khk, recql4, orc1, mutyh, dock7, pms2, mlph, gm2a, nup133,
ndufaf3, tmprss15, ttc8, ercc8, galns, slc35a1, glb1, lct.2, itpa, tyrp1, ift27, stra6, hexb, gclc, sat1,
myo5a, f13a1, frem2, rnaseh2b, f12, sgsh, pmfbp1, ctns, nup107, ndufa11, pomt2, ndufaf1, nipal4, ercc6, ndufa1,
sptbn2, st14, pex5, hadhb, ndufs6, ercc3, polr1c, adgrv1, cps1, b3gat3, hsd17b4, ube3b, f13b, nhlrc1, bub1b,
ifih1, mcm4, slc1a1, pnp, mttp.1, trim32, lyst, cog1, wdr72, ripk1, orc4, atr, atg5, dcdc2, cenpj,
plcd1, dse, ngf, lonp1, slc25a13, ap3b2, tgm1, efemp2, adamts9, pex13, ush1g, fermt3, tcap, msh3, rnf216,
gtf2h5, bloc1s3, ift80, crppa, cdt1, bcs1l, aptx, b4galt1.2, ca12, pex7, dag1, pik3r5, pycr1, aspa, flvcr2,
fgfr2, mc1r, ush1c, fgfr1, slc26a2.2, invs, ift140, ift172, mks1, cep290, wwox, slc19a3.2, mttp.2, tprkb, bpnt2,
dgat1, dync2h1, rnf168, aldh18a1, xpnpep3, kcnj10, cth, f7, c12orf57, polr3b, wdr73, tmc6, dtnbp1, slc25a38, cplx1,
wdpcp, pip5k1c, vkorc1, tbc1d20.2, dna2, gp1bb, rpgrip1l, uvssa, f13bl, mlh1, tent5a, scyl1, akr1c2, sprtn, ndufaf4,
gopc, mars2, bbip1, traf3ip1, b4galt1.1, cep120, capn3, cad, proc.2, hells, cep78, acad9, lage3, eral1, cyp4f22,
hfm1, akr1c4, foxred1, sil1, kiaa1109, stac3, alox12b, cc2d2a, ift43, mogs, stat5b, epg5, kiaa0586, lct.1, hps5,
trappc11, kifbp, trip11, lamb2, tonsl, cryaa, hars2, slc29a3, slc25a20, obsl1, jagn1, ano5, rbbp8, pnkp, esco2,
syne1, gnptab, tbc1d24.2, ndufa13, bbs12, anks6, naglu, ndufaf2, ttn, rp1, slc52a3, aloxe3, kif7, szt2, p2rx1,
cep164, atp8a2, nbeal2, c1orf84, vwa3b, abca12, clrn1, plcb1, adamtsl2, duox2, cyp11b2, cfap44, ttc21b, dchs1, pex6,
clcnkb, pdzd7, dync2i1, ltbp3, prss56, hepacam, ubr1, lck, cntn2, tg, hars1, dysf, card11, large1, rbm8a,
wdr81, col2a1, sgca, tufm, galt, enam, hexa, selenon, plg, cnpy3, wdr4, tmem107, timmdc1, poglut1, nsmce2,
prg4, plec, il17ra, rnaseh2c, pnpla1, c8orf37, cfap43, hspg2, abcc6, tex15, arsg, tyrobp, glis2, col11a2, ckap2l,
rho.2, tctn3, apoc2, hyls1, slc26a3.3, slc26a4.1, slc26a4.2, col11a1, plvap
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s):
autosomal genetic disease (is_a)