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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:
Referenced OMIM:
Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Xenbase Genes
:
hba1,
fgg,
fga,
polg,
fras1,
hoxc13,
psmb8,
slc12a3l,
kng1,
mfn2,
foxe3,
hoxa1,
ghr,
kremen1,
f2,
[+]
gdf5, mfrp, slc4a11, cdh3, fgf5, wnt10b, six6, fgb, sox18, dhh, nppa, mc2r, slc9a1, ahsg, spink2,
tp53rk, lrp5, lrp2, slc26a3.2, nphp1, nphp4.2, nphs1, nphp3, tgfb1, zbtb24, smn1, tbce, rab18, znf423, rab27a,
slc25a1, cntn1, lox, dsp, rax, smarcal1, cd36, atm, vhl, myo7a, foxi1, clcf1, asah1, flnb, sumf1,
grip1, erbb3, vps13b, slc24a5, vsx2, ocln, cftr, hps3, adar, pkhd1, hps6, slc26a3.1, slc12a3, neurog3, wdr19,
dnah1, lmna, insr, bbs2, trem2, crlf1, lrig2, ntrk1, pxdn, vps13d, ctsc, arl6, evc2, scarf2, snap29,
hps4, cdin1, mplkip, aldh3a2, osgep, nbn, cfap300, pepd, fh, edar, gnptg, rnaseh2a, spint2, p2ry12, slc45a2,
ergic1, scarb2, gnpat, ggt1, scnn1b, xylt1, strc, ttc7a, ercc2, slc26a4.3, gorab, por, lpl, bbs4, cep63,
cep83, dync2i2, slc19a2, sdccag8, ak7, ca8, lama2, pex10, nin, zmpste24, bbs9, lrmda, grid2, st3gal5, cog8,
uba5, ano10, lars2, cnnm4, cers3, ush2a, ccdc28b, pth1r, cdh23, bloc1s6, rogdi, emg1, hadha, pnpla6, dpys,
ercc5, agps, slc46a1, chsy1, atcay, gtf2e2, nthl1, tbc1d20.1, orc6, ednrb, ftcd, acsf3, gale, epm2a, bbs5,
stub1, ift122, rho, tdp2, aaas, cpn1, dhodh, tsga10, cfap69, bbs10, clpp, ddx11, pex26, cbx2, cog7,
slc25a20.2, ddb2, vldlr, gle1, glrx5, proc, b4galt7, hba2, b3galt6, sec23b, cdc6, lztfl1, iqcb1, serpinc1, mkks,
ddx59, mlc1, samhd1, tdo2, acat1, spr, hps1, xpa, gns, twnk, bbs1, lbr, grm1, pros1, atrx,
lep, slitrk6, scnn1g, fat4, tbc1d24.1, blm, reln, fbln5, gfm1, nek1, pcsk1, brdt, edaradd, snx14, nt5e,
slc35c1, fxn, trim37, cpamd8, tmem67, wdr35, suox, cib2, pex1, srd5a3, syt14, nectin1, rasgrp2, epcam, pcdh15,
adamtsl4, idua, ercc4, cep57, glyctk, ap3b1, kctd7, rab3gap2, alms1, pank2, itgb2, tyr, cep152, abcb11.2, opa1,
smoc1, nsd1, oca2, hpse2, vps13a, whrn, crb2, eif2ak3, ecel1, rubcn, abhd12, dcxr, nek8, xpc, sacs,
ltbp4, evc, nfix, wrn, aldh1a3, chst3, xylt2, fancm, bckdk, taf4b, cwf19l1, rab3gap1, bbs7, scnn1a, polh,
atp13a2, gp9, tpp1, slc26a2, khk, recql4, orc1, mutyh, mlph, gm2a, tmprss15, ttc8, ercc8, galns, slc35a1,
glb1, lct.2, tyrp1, ift27, stra6, hexb, gclc, myo5a, f13a1, frem2, rnaseh2b, f12, sgsh, pmfbp1, ctns,
nipal4, ercc6, sptbn2, pex5, hadhb, ercc3, adgrv1, cps1, b3gat3, ube3b, f13b, nhlrc1, bub1b, ifih1, slc1a1,
pnp, mttp.1, trim32, lyst, cog1, wdr72, orc4, atr, atg5, plcd1, ngf, lonp1, slc25a13, tgm1, efemp2,
pex13, ush1g, fermt3, msh3, rnf216, gtf2h5, bloc1s3, ift80, cdt1, bcs1l, aptx, b4galt1.2, ca12, pex7, pik3r5,
aspa, flvcr2, fgfr2, mc1r, ush1c, fgfr1, slc26a2.2, invs, ift140, ift172, mks1, cep290, wwox, slc19a3.2, mttp.2,
dgat1, dync2h1, rnf168, aldh18a1, xpnpep3, kcnj10, cth, c12orf57, tmc6, dtnbp1, slc25a38, wdpcp, tbc1d20.2, dna2, gp1bb,
rpgrip1l, uvssa, f13bl, tent5a, akr1c2, sprtn, gopc, b4galt1.1, proc.2, cyp4f22, akr1c4, sil1, kiaa1109, stac3, alox12b,
cc2d2a, mogs, epg5, lct.1, hps5, kifbp, trip11, lamb2, hars2, slc29a3, slc25a20, obsl1, ano5, rbbp8, syne1,
gnptab, tbc1d24.2, bbs12, anks6, naglu, rp1, slc52a3, aloxe3, kif7, p2rx1, cep164, atp8a2, nbeal2, vwa3b, abca12,
clrn1, adamtsl2, cyp11b2, cfap44, ttc21b, dchs1, pex6, pdzd7, dync2i1, ltbp3, prss56, hepacam, ubr1, cntn2, hars1,
rbm8a, wdr81, col2a1, tufm, galt, enam, hexa, selenon, plg, prg4, plec, rnaseh2c, pnpla1, cfap43, hspg2,
abcc6, tex15, tyrobp, glis2, col11a2, rho.2, apoc2, slc26a3.3, slc26a4.1, slc26a4.2, col11a1
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s):
autosomal genetic disease (is_a)
