|
DOID:0050177 - monogenic disease
Disease Ontology Definition:A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive.
Synonyms:
Echinobase Genes

polr3a, pitx2, ret, mttp, pax2, fras1, LOC592559, bicc1, pcdh15, pkd2, ighmbp2, bmpr1b, hgsnat, vps37a, ahi1,
sgcb, pou4f3, spart, LOC585120, rpl21, ofd1, LOC577399, fat4, atrx, dync2h1, inf2, slc16a1, nsdhl, gm2a, brca2,
agk, nek1, xpnpep3, LOC105444109, wdr19, ddx11, tgm1, LOC762707, dkc1, sdhaf2, cask, rubcn, slc2a1, atp6ap2, mars2,
mccc1, tbc1d24, rnaseh2b, ears2, ift80, col4a1, myo7a, tert, atg16l1, ccdc39, bcs1l, wrap53, anos1, aptx, cep63,
sucla2, pex1, cspp1, otof, washc5, eya1, tpmt, tfap2a, taf2, ppt1, LOC587274, med23, klf11, stub1, LOC582974,
sox9, dnai2, ap5z1, dnaaf5, flcn, pgap1, aco2, lmf1, ercc6, mettl23, ift140, slc25a38, slc35a1, nog, clcn7,
abcc6, prpf31, wdr11, nt5c2, ung, smc3, nsd1, prom1, fgfr3, hpse2, rnaseh2a, hps1, nhp2, dctn1, gck,
uvssa, serac1, sufu, mgat2, eif2ak3, nmnat1, snrnp200, sil1, kif11, ubiad1, mrps22, slc7a14, nphp4, slc45a2, sdhb,
park7, gch1, pde6d, pex5, abcb4, abcb4, epha2, LOC578254, hspg2, dcaf17, cep290, tmem138, tymp, ascl1, aspm,
elovl4, lrp4, pax6, gnptab, lrp4, pex16, twnk, sepsecs, atxn10, flt4, smarcal1, aaas, abcb1, hprt1, psmc3ip,
eftud2, kars1, pms1, fbxl4, itga6, rab18, hspd1, LOC373238, pnkd, vps53, prpf8, rad51c, emg1, hfm1, gle1,
bckdk, ctsd, mks1, slc25a1, tbx1, snap29, trim37, hnf1a, smarcb1, trappc11, LOC576476, lztr1, por, LOC583929, rogdi,
efnb1, h6pd, vcl, rp2, synj1, gbe1, slc37a4, dnaaf3, cfap298, runx2, acat1, lca5, cep57, abcb7, yars1,
pex7, rpgr, fig4, dhdds, arl13b, mlh1, sod1, arl6, msh2, dmd, sptlc1, fancc, ercc4, eif2b2, prkcsh,
cplane1, glis3, pomgnt1, eif2b3, nek8, exosc3, orc1, npr2, kif2a, clpp, agl, wdr45, slc4a11, cth, tek,
alg6, ptch1, ercc8, gldc, sptan1, c3, pomt1, notch1, lrsam1, tsc1, prpf4, lmx1b, whrn, rsph9, bbs1,
ush2a, vsx2, tdp1, LOC754546, opa3, ddhd1, rnaseh2c, dhtkd1, wdr81, ercc2, gphn, spata7, polh, vipas39, banf1,
otx2, LOC591748, LOC579215, dync1h1, pnpt1, tbce, mgme1, pomt2, selenon, cdan1, xdh, six1, lyst, psen1, tbp,
tecpr2, vrk1, iyd, b3galnt2, nphp1, LOC100891460, ap4m1, b4gat1, spast, kptn, opn1lw, sdccag8, bmp2, gatm, gnpat,
dnal1, LOC581885, ap4e1, gli3, slc35c1, epg5, hh, crppa, rab27a, cep152, tti2, kifbp, apc, idh2, pklr,
mtpap, iqcb1, acad9, gmppb, cep41, cln3, ebp, tubgcp6, gns, lrrk2, pqbp1, zmynd10, taz, rab7a, msrb3,
abcc9, agps, porcn, col2a1, col1a2, auh, rxylt1, gatad1, ttc21b, hsd17b10, smc1a, dag1, slc35a2, phf8, itpr1,
kansl1, amt, fancd2, dclre1c, ift122, igbp1, tgfbr2, ext1, wdr35, gata6, ap4b1, colq, lig4, acox1, a2m,
LOC548617, rpl11, drc1, tsen2, prpf6, nphp3, armc4, spag1, rad21, gmppa, dna2, LOC585535, ngly1, ccdc103, cps1,
wnt1, wnt10b, rab3gap1, cdc6, LOC594147, dgat1, arl2bp, pepd, tmem67, rpgrip1l, dpm1, rag1, pign, gcsh, spg7,
pigt, ca8, foxc1, slc52a3.2, slc52a3, ano10, recql4, hnf4a, ctcf, aprt, lars2, nsun2, nbn, fanca, tbc1d20,
LOC581394, tmem231, gnao1, anks6, galns, pnkp, sall1, usb1, aars1, gnal, afg3l2, tk2, cdt1, c8orf37, snai2,
pomgnt2, vps35, orc6, dnah5, tpm1, vps33b, galt, nr2e3, aldh7a1, eif2b5, eef2, dnai1, ttc37, pts, xpa,
blm, gba2, ddx59, rgs9bp, adgrv1, fan1
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
genetic disease (is_a)