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DOID:0050739 - autosomal genetic disease
Disease Ontology Definition:A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes.
Synonyms:
Xenbase Genes : tbx1, hba1, gdf9, c2, gata2, gdf2, fzd4, suclg1, wnt10a, tcf3, slc24a4, fgg, pygl, tgfbr1, tnni2, [+]
dact1, prkcd, six3, fga, polg, fras1, fzd6, map2k1, hoxc13, acvr1, mycn, avp, foxc1, psmb8, app,
bmp1, fgfr3, eya1, sufu, ms4a1, slc12a3l, cfb, hras, ttr, aicda, atp6v1a, zeb2, wnt3, mybpc3, aqp5,
ace, kng1, twist1, lrp1, tp63, hoxa13, bmpr2, nr2f1, tnik, mfn2, paxip1, il12b, sox10, hspb1, cd3g,
casp10, tjp2, tf, gnal, tgfb2, foxe3, nos3, six1, sox4, hoxa1, apc, sin3a, rarb, psmb9, stat3,
rorc, tfap2a, met, smad6, foxc2, aqp2, gdf1, ghr, kremen1, map3k7, f2, tnnt1, tnfsf11, a2m, il1b,
gdf5, zfpm2, gli2, bmp2, tnxb, il7r, smad3, runx2, mfrp, tbl1xr1, slc4a11, pkd2, stat1, csf3r, tubb,
tnfrsf11a, cdh3, ep300, hoxd13, fgf5, hnf4a, pitx2, mpo, smarce1, nr2f2, tnnt3, gli1, zic2, wnt10b, foxp2,
pax3, spred1, prickle2, ncf2, fgf23.2, bmp4, nr3c2, pparg, six6, tecta.2, hesx1, fgb, sox18, cd19, pdx1,
pkd1, sox11, slc12a5, bmpr1b, dhh, esrrb, rab7a, fgf14, tek, jak2, crb1, gdnf, dvl1, smarca4, nppa,
pax6, wnt4, hnf1a, mc2r, akt2, ihh, acvrl1, bves, tp53, slc9a1, ca2, fn1, fgf9, sox2, mip,
fshb, ezr, ahsg, sox3, atp1a1, gli3, spink2, tp53rk, akt1, mitf, wt1, mmp1, fgf10, gata6, kmt2c,
lrp5, ret, hoxd10, otx2, sall4, wnt1, zfhx2, nr5a1, pax4, mapkbp1, tgfbr2, bmpr1a, hnf1b, smad4, ifngr2.1,
nr2e3, hivep2, ins, grhl2, lemd3, lrp2, lhb, hrg, pitx3, skic2, slc26a3.2, c3, nphp1, mybpc1, slc5a5,
hes7.2, vdr, foxl2, pax2, tbx5, prickle1, mef2c, ctnnb1, syngap1, dnm1l, gdf3, nherf1, snai2, arnt2, nphp4.2,
meis2, htra1, tfrc, nog, casp8, nphs1, nphp3, csnk2b, nr1h4, nkx2-5, lfng, nf1, shh, tgfb1, ifng,
trac, ptch1, lyz, tbp, bicc1, sh3tc2, zbtb24, tmpo, rac1, smn1, tbce, gjb3, prpf31, rab11a, jup,
anln, gsn, lmnb1, ifrd1, rab18, cxcr4, creb3l1, itga6, cav1, atp8b1, kitlg, znf423, il21r, krt17, arpc1b,
lmnb2, gja5, rab27a, prokr2, brca1, smarcc2, actb, ror1, tlr3, nfkbia, tubb2b, sall1, pten, eed, ror2,
ak2, yars1, actg1, slc25a1, cntn1, apbb2, malt1, hpca, acta1, lox, megf10, aldh7a1, nefl, dsp, ppp1r3a,
adamts2, syne2, triobp, arid1a, kit, myo15a, rax, smarcad1, sptb, sh2b3, vim, gja8, col1a2, ttbk2, smarcal1,
tbcd, fgd4, smarcb1, plk4, cd36, atrip, atm, prph, mrps2, gfpt1, actn1, hnrnpa1, vhl, myo7a, foxi1,
gja3, grin1, clcf1, kptn, actn4, asah1, ripk4, rax2, trit1, lrp4, alg2, ifnar2.1, fbn2, prkdc, flnb,
lmx1b.1, sgce, des.1, rac2, hnrnpdl, sumf1, ndufv1, gyg1, kmt5b, adnp, tusc3, mmp20, alx4, grip1, tgif1,
dlx5, cux1, alx1, apoe, cp, egr2, erbb3, vps13b, slc24a5, vsx2, prom1, phox2a, ocln, cftr, hps3,
chrnb2, adar, pkhd1, cd247, dync1h1, hps6, nprl2, prdm5, rtn4ip1, hycc1, ifngr2.2, slc26a3.1, appl1, ifnar2.2, cox6a1,
ppib, kdm5b, prkar1a, plxnd1, ctcf, slc12a3, ext1, ext2, camk2a, nanos1, camk2b, neurog3, irf6, hes7.1, myo18b,
ikzf1, prkcg, gja1, col11a2, tgfbr2l, smad6.2, mpz, gal.1, serpinf2, tmie, chd7, fastkd2, trmt10c, epb41l1, cd3e,
intu, mnx1, rbm28, des.2, wdr19, lmx1b.2, nefh, dnah1, tpo, atxn2, fgf23, vim.2, pla2g6, lmna, insr,
itpr1, men1, ptprq, acan, scn4b, gnao1, aipl1, bbs2, lingo1, slc37a4, trem2, kirrel3, traip, kcnma1, cetp,
crlf1, b2m, cd79a, trio, gmppb, lrig2, ntrk2, ntrk1, musk, ppt1, elac2, pxdn, vps13d, slc18a2, tnfrsf11b,
kcnv2, mlxipl, ctsc, arl6, evc2, chrm3, sco2, reep1, prkra, scarf2, antxr2, agpat2, st3gal3, snap29, hps4,
opa3, rtn2, atp6v1b2, ap4s1, cdin1, apoa5, mplkip, trim2, cyp27b1, aldh3a2, ncf4, osgep, irf1, nbn, sgcb,
txn2, cfap300, kars1, tor1a, pepd, fh, rnaset2, afg3l2, gfi1b, pomt1, gna11, lyrm4, fars2, atp5f1a, nars2,
tdrd7, cog6, hk1, rp9, serpinf1, entpd1, stxbp1, dpf2, edar, mrpl3, hspb8, atl1, gnptg, rnaseh2a, brf1,
atad3a, cd81, rspo2, ppp2r2b, pgap3, spint2, dcps, tubb4a, ndufs4, p2ry12, stxbp2, pigp, slc45a2, gnas, spast,
ergic1, stim1, scarb2, folr1, bsnd, gnpat, serpini1, pgm1, cnga3, bcl10, usb1, snap25, tango2, ggt1, scnn1b,
ap4b1, grin2b, gpsm2, xylt1, plin1, strc, sgcd, ttc7a, ggcx, ercc2, ikbkb, mpzl2, plpbp, erlin2, cog5,
slc26a4.3, tdp1, chd2, adcy1, lrba, gorab, ywhag, por, tbx4, cyp1b1, pnkd, dnajb2, lpl, pigc, stx11,
kcnk9, bbs4, gucy2c, cenpe, ppp3ca, elovl5, yap1, plcg2, dpagt1, cep63, sucla2, cln8, dclre1c, cep83, nrxn1,
dync2i2, slc19a2, sdccag8, micu1, mbtps2, ak7, fbxo31, ca8, prdm12, elovl4, lama2, pex10, fbn1, wars1, nin,
zmpste24, sp7, neb, galnt3, tor1aip1, bbs9, cox10, jph1, lrmda, foxn1, unc119, lgi1, pex3, grid2, ndst1,
st3gal5, pygm, slc45a1, scn3b, cog8, bdnf, hpd, myot, uba5, ano10, gjb2, rars1, taok1, cryba1, lars2,
ezh2, cntnap2, atxn7, synj1, ripply2.1, zap70, sgcg, ndufb9, bscl2, cnnm4, xdh, klf11, sdha, adam22, lins1,
cers3, ush2a, col25a1.1, ccdc28b, pum1, ctps1, pth1r, impdh1, trmt5, cdh23, itk, bloc1s6, mre11, clic5, kcnc3,
aimp1, mtpap, wars2, rogdi, emg1, hadha, cyb5a, pick1, pnpla6, cyba, aldh4a1, dnmt3a, atxn10, pomgnt1, pms1,
dpys, cln5, naa15, ung, rpl15, ercc5, itgb6, kif1a, b4galnt1, gfi1, tfg, espn, znf408, cdc14a, slc12a6,
cyp11a1, pstpip1, agps, trpm4, zmynd11, atp6v0a2, cpa6, ndufs1, reep2, ddhd1, gch1, nipa1, eif2b3, slc46a1, fbxl4,
slc5a7, bfsp2, tmem43, uroc1, vps45, adamts10, foxp1, chsy1, exosc8, sepsecs, atcay, kcne1, gtf2e2, rom1, cog2,
nthl1, ebf3, snta1, apoa1, nsun2, orai1, cav3.1, auh, dph1, ndufv2, gars1, pigl, ubiad1, tbc1d20, aars1,
orc6, ednrb, ftcd, neurod1, myo1h, abcg5, ngly1, g6pc1, relb, fkrp, ddhd2, rhobtb2, slc6a17, lig4, cidec,
acsf3, tsfm, glmn, gale, cryba2, fmo3, cacng2, dnmt1, epm2a, rps26, bbs5, pigv, figla, dolk, strada,
ubtf, stub1, rhbdf2, eprs1, prpf8, setx, ift122, rho, exosc3, gmnn, tdp2, alg8, aaas, rpl26, pnpt1,
mccc1, eif2ak4, thbd, ccn6, rps24, cpn1, tmem126a, dhodh, atp2c1, tsga10, ssr4, taf2, qdpr, c9, rpe65,
cfap69, rps19, xrcc1, gjc2, sars1, fbxo38, bbs10, tsen54, vps37a, clpp, tubb4b, hspb3, vcp, eef2.1, rps10,
stt3b, ddx11, pex26, ap4m1, mpc1, nfkb2, cfap410, sdhb, cbx2, znf687, rrm2b, gnb4, cog7, ears2, cib1,
nubpl, cryab, dstyk, f10, slc25a20l, atxn3, slc33a1, klhl7, pura, unc45b, mtap, fktn, ddb2, vldlr, tmem165,
dnajb6, eif2b1, lars1, pcna, gle1, eftud2, rps23, glrx5, ndufb3, proc, ufm1, c1qbp, nhp2, b4galt7, snx3,
pex19, mpi, stt3a, pomgnt2, far1, hba2, crbn, eif2b2, b3galt6, gatm, coa8, mrps7, sec23b, cdc6, lztfl1,
sdhc, iyd, ndufs2, iqcb1, eef1a2, pcbd1, serpinc1, dnajc6, vac14, mkks, ndufaf5, cdc45, ddx59, mlc1, alg10,
arl6ip1, samhd1, gss, pigw, cars2, dpm1, calm1, tdo2, cdca7, acat1, rps7, dvl3, pmpca, msh2, g6pc3,
nans, spr, gnb5, hps1, xpa, scn1a, gdap1, atp5f1d, gns, mgat2, wfs1, mboat7, mtfmt, twnk, kif11,
bbs1, habp2, ikbkg, lbr, rpl21, chrne, agk, bin1, kif22, hspd1, grm1, bfsp1, gbe1, pros1, atrx,
dhtkd1, lep, depdc5, slitrk6, scnn1g, fat4, nus1, ptprc, cfh, vps33b, lmf1, abcg8, dync2li1, tbc1d24, tsc2,
tnrc6a, lmbr1, snrnp200, gck, atxn1, btd, coch, ift52, blm, cln6, bola3, ampd2, itga2, scn4a, reln,
slc6a3, kcnb1, zc3h14, fbln5, gfm1, kcnh2, nek1, kcnj13, pcsk1, cast, mab21l2, lamb3, slc13a5, rhag, tk2,
cdh15, kif5a, syne2.2, tsen15, ddr2, brdt, rpl5, ca4.1, cltc, edaradd, snx14, nt5e, gmppa, prdm8, hgsnat,
pomk, kl, slc35c1, dsg1, lama3, glis3, fxn, zswim6, prss12, ank2, nf2, trim37, cpamd8, esrp1, tmem67,
matn3, wdr35, suox, itga7, stat2, znf592, cib2, pex1, map3k20, srd5a3, prph2, syt14, nfkb1, mccc2, cilk1,
irf8, hsd17b3, nectin1, itm2b, alg3, eif2b5, klf6, antxr1, rasgrp2, msh6, lhcgr, epcam, pcdh15, papss2, adamtsl4,
idua, ercc4, dnm1, sptan1, set, tgm5, slc4a1, g6pc3.2, taco1, nags, cep57, tmc1, dock8, glyctk, ap3b1,
f5, chst8, auts2, kctd7, meiob, cd2ap, rab3gap2, tsc1, alms1, myt1l, enpp1, gtpbp3, ap4e1, pank2, lipe,
myo5b, itgb2, tyr, cep152, abcb11.2, opa1, smoc1, nsd1, oca2, myh3, p3h1, ank3, kcnq5, sec63, ostm1,
hpse2, cox15, vps13a, whrn, crb2, copa, eif2ak3, ecel1, rubcn, kynu, lamc2, kiss1r, gpx4, abhd12, eps8l2,
dcxr, nek8, best1, ifitm5, sdhaf2, ift81, dock2, dgke, spart, ppp2r1a, rdx, rapsn, cacna1c, dzip1l, xpc,
kbtbd13, slc25a26, tshr, kcna2, pgm3, prdm16, sacs, isca2, elp4, ltbp4, vipas39, myh7, evc, nfix, wrn,
aldh1a3, exosc9, iba57, opn1sw, pex14, npr2, ndrg1, chst3, rtf1, cacna1g, xylt2, cstb, bcl11b, tyk2, slc6a5,
wbp2, rusc2, comp, ferry3, tbxas1, tmprss3, scn1b, fancm, crh, phkg2, cers1, bckdk, lrsam1, clpb, ildr1,
taf4b, sh3bp2, clcn7, cwf19l1, apc2, c1r, c1s, stom, setd2, rab3gap1, cldn14, grn, sorl1, chd4, bicd2l,
tymp, bbs7, tnfrsf1a, scnn1a, cavin1, atp1a3, inpp5k, ywhae, polh, coasy, prpf3, tars2, necap1, atp13a2, kcnc1,
abcc8, eps8, gp9, kif1c, blmh, ganab, cln3, tpp1, slc26a2, suz12, ndufs3, khk, eif2b4, recql4, orc1,
pik3ca, mutyh, dock7, katnb1, lztr1, tnpo3, aimp2, pms2, col6a3, mlph, col6a1, mfsd8, trpv4, crybb1, pmm2,
ncf1, gm2a, mrps34, dpp6, rpl27, adra2b, nup133, lman2l, elmod3, ap2s1, tti2, sec23a, ndufaf3, tmprss15, hgf,
pmpcb, slc26a5, yme1l1, ttc8, mrpl44, mrps22, ppip5k2, phox2b, uchl1, lrat, ercc8, galns, pfkm, aco2, abca4,
rpl11, mtr, slc35a1, hnmt, glb1, lct.2, polr1d.1, pcyt1a, agl, itpa, tyrp1, ift27, slc25a4, morc2, nop10,
gemin4, nxn, serpinb6, stra6, slc25a12, hexb, cert1, gclc, sat1, pafah1b1, cfl2, tecr, parn, dpm2, zbtb18,
coa6, flcn, top3a, gne, vrk1, med23, micos13, myo5a, f13a1, impa1, frem2, rnaseh2b, sbf2, f12, pmp22,
trpa1, zfyve26, serpinh1, slc1a2, sgsh, piezo2, mthfr, pmfbp1, myo1e.1, nde1, drd2, dguok, atp6v1e1, stag1, otof,
ctns, alg1, sod1, nup107, ndufa11, mipep, prx, pomt2, fkbp10, hadh, cyp2u1, b4gat1, mecr, ndufaf1, nipal4,
ercc6, rpgrip1, unc13d, acox1, rad21, med17, map3k1, ndufa1, mgme1, sptbn2, thap1, st14, sh3pxd2b, pex5, rxylt1,
itga2b.1, sparc, hadhb, glud1, ndufs6, c4h19orf12, ercc3, polr1c, crtap, itgb3, polg2, adgrv1, ufc1, cps1, b3gat3,
cdk5, emc1, alpl, arid1b, dab1, nfia, hsd17b4, ube3b, f13b, trmu, kif21a, kcna1, ogdh, nhlrc1, bub1b,
lamb1, ankh, mme, ifih1, scn8a, sos1, nrg1, pex16, mcm4, slc1a1, pnp, vps53, rgs9bp, tcf4, slc39a8,
mttp, fan1, tmem231, tspan12, tecta, rnaseh1, trim32, lrrc8a, trpc6, lyst, b3galnt2, kcnj2, cog1, septin9, col12a1,
myo6, wdr72, ripk1, ano3, orc4, efemp1, rev3l, herc2, nalcn, atr, polr3a, atg5, slc16a12, clip1, kcnn4,
dcdc2, cenpj, plcd1, gan, pde4d, trpv3, dse, ngf, lonp1, slc25a13, ap3b2, tgm1, ryr1, efemp2, adamts9,
sbf1, pex13, kif1b, ush1g, clint1, itgb4, trps1, fermt3, tcap, cacna1a, cdan1, lgi4, chrna2, tenm4, cyp2r1,
shank3, trpc3, msh3, braf, rnf216, gtf2h5, fa2h, slc16a1, calm2, bloc1s3, pigt, ift80, crppa, cdt1, rad51d,
pex12, bcs1l, ift74, aptx, b4galt1.2, rft1, rad51c, ca12, kdf1, mipol1, irf2bp2, pex7, dag1, pik3r5, pycr1,
rpl35a, champ1, rps29, aspa, flvcr2, sem1, rps17, gcdh, plekha1, pex2, litaf, dyrk1a, egln1, rag2, tbx3,
fgfr2, mc1r, ush1c, fgfr1, stat3.2, cyld, ascl1, ccdc88c, ptch2, sox9, slc26a2.2, ubtf.2, deaf1, gtf2i, cel.2,
pbx1, znf238.2, krt12.5, invs, ift140, ift172, mks1, cep290, prf1, wwox, tcirg1, tinf2, slc19a3.2, tulp1, lhfpl5,
lmod3, mttp.2, banf1, tprkb, sugct, bpnt2, tgfbi, bicd2, elp2, pdyn, gnrhr, casq1, slc2a1, cradd.2, myh2,
dyrk1a.2, dgat1, dync2h1, apcdd1, sycp3, rnf168, chek2, g6pc1.2, aldh18a1, slc38a8, xpnpep3, eef2.2, coa5, rit1, kcnj10,
alg12, washc5, pigy, pet100, cth, ddost, taf13, sigmar1, lss, f7, tbc1d32, ehmt1, erlin1, c7h12orf57, fam83h,
rhagl, cc2d1a, gba2, polr3b, mrps16, wdr73, otoa, tmc6, dtnbp1, scn3a, rsrc1, slc25a38, rapgef2, cav3.2, gabbr2,
cplx1, pgap1, nprl3, wdpcp, pip5k1c, slc6a1, vkorc1, mtrr, stx3, tbc1d20.2, tecpr2, dna2, gp1bb, med25, rpgrip1l,
naga, uvssa, tuba1cl.3, f13bl, ank1, mlh1, ahdc1, marveld2, tmem199, gins1, dnajc19, setd5, tent5a, scyl1, tmem106b,
prkcsh, akr1c2, trappc9, sprtn, liph, aprt, tmem38b, ufsp2, cradd.1, polr1d.2, ndufaf4, sdhd, gopc, gtf2ird1, nlrc4,
asxl3, mars2, inf2, bbip1, col3a1, crybb2, prodh, kcnd3, spg11, gosr2, traf3ip1, b4galt1.1, cep120, cst3, man1b1,
capn3, ctsf, ctsk, snrpb, tgm6, cad, twist2, dlx3, nop56, sting1, proc.2, hells, tmtc3, ddr2l, cep78,
acad9, tubb3, lage3, eral1, cyp4f22, edc3, tdrd9, tbc1d23, septin12, hfm1, ercc1, akr1c4, foxred1, cyp7b1, sil1,
setbp1, wnt7a, bltp1, pacs2, stac3, ctsd, tsen2, alox12b, cc2d2a, ift43, arhgef2, chuk, gal.2, hax1, nlrp3,
pex11b, irf6.2, mogs, stat5b, myo1e.2, mbd5, washc4, sema4a, pomp, vti1a, pklr, sqstm1, kcnj5, epg5, kcnq1,
snrpe, ccnq, add3, skic3, KIAA0586, lct.1, hps5, trappc11, tsen34, dctn1, alg11, kifbp, trip11, lamb2, rgs9bpl,
specc1l, erbb2, tonsl, cryaa, hars2, slc29a3, fam20a, slc25a20, pigo, cox6b1, obsl1, wrap53, jagn1, gabrg2, col4a2,
itga2b.2, mars1, ca4.2, ano5, rbbp8, cfi, rps27, chkb, akap9, pnkp, myh8, col5a1, esco2, fmn2, rgs9,
syne1, gnptab, tbc1d24.2, mkrn3, ndufa13, krt12.1, chchd10, bbs12, cd40, ripor2, tex14, col25a1.2, anks6, cisd2, kcnt1,
chrna4, smad10, gatad2b, irf7, plekhg4, naglu, tmem132e, prrt2, cacna1b, ndufaf2, ttn, col5a2, myo3a, rp1, slc52a3,
tmem240, aloxe3, pde3a, plekhm1, spg7, ap5z1, mettl23, kif7, cerkl, p2rx1, rmnd1, cngb3, ash1l, cep164, rtel1,
atp8a2, srcap, alg9, kras, scn5a, dok7, s1pr2, trpm3, gpc6, msrb3, sardh, nbeal2, plekhg5, cdk13, cox20,
frmd7, pjvk, serac1, szt2, vwa3b, adgrg1, abca12, grxcr1, camta1, dcaf17, fat2, mtmr2, clrn1, flna, kcne2,
plcb1, vars2, tpm3, gipc3, notch2, fig4, kcnq2, adamtsl2, duox2, cyp11b2, cfap44, klhl10, pts, ttc21b, gabrb1,
dchs1, pex6, clcnkb, pdzd7, grik2, otulin, piezo1, dync2i1, grxcr2, ltbp3, tspear, prss56, hepacam, ubr1, maf,
raf1, lck, gaa, bptf, ptpn11, casr, pik3r1, cntn2, thrb, arid2, trip12, tpm2, tg, samd12, hars1,
cabp4, kctd1, kat6a, gnb1, dysf, card11, sco1, kcnj11, col6a2, cog4, serpind1, clcn1, mafb, nras, rag1,
large1, rbm8a, aars2, tbx6, mpdu1, frrs1l, pogz, lrtomt, wdr81, ighmbp2, col2a1, sgca, col1a1, adat3, pacs1,
lpar6, myoc, hmcn1, crebbp, grap, coa7, wac, tufm, scn2a, chrnb1, pcnt, notch3, tert, col4a1, fgd1,
surf1, galt, enam, brca2, psmb4, pgap2, edn3, gdf6, pam16, mpv17, nrl, selenon, plg, ifngr1, cnpy3,
ptdss1, gba1, wdr4, tmem107, timmdc1, poglut1, nsmce2, prg4, znf469, zmynd15, dmp1, dspp, wnt5a, atn1, mapre2,
trdn, sp110, plec, epor, sfxn4, il17ra, tnfaip3, adamts17, pop1, rnaseh2c, cox8a, eda, mag, pnpla1, cfap418,
cfap43, bdp1, hspg2, abcc6, mesp2, cic, loxhd1, col17a1, slc9a3, brsk2, tex15, arsg, terc, tyrobp, krt12.6,
tcof1, tlr4, cdkn1b, krt12.2, dnajc5, ripply2.2, krt12.4, mmp13, epo, cdh1, glis2, cox14, mocos, ckap2l, mtrfr,
blk, cd79b, rho.2, otog, g6pc1.3, krt12.3, otogl, tctn3, apoc2, hyls1, slc26a3.3, slc26a4.1, slc26a4.2, cryba1.2, col11a1,
fam20a.2, tuba1a, cabp2, col7a1, eng, gabrb2, krt6b, plvap, tnfsf12, tprn, epb42
MONDO:0000429 - autosomal genetic disease |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
monogenic disease (is_a)