|
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:
Echinobase Genes : smad4, nf1, micu1, rps24, chat, wrn, lrmda, pitx2, ret, pax2, fras1, bicc1, pcdh15, pkd2, hgsnat, [+]
vps37a, fat4, atrx, dync2h1, slc16a1, nek1, xpnpep3, LOC105444109, wdr19, slc2a1, mccc1, tbc1d24, rnaseh2b, ears2, ift80,
col4a1, myo7a, bcs1l, wrap53, cep63, pex1, otof, eya1, tfap2a, LOC582974, flcn, lmf1, ercc6, ift140, slc35a1,
nog, abcc6, wdr11, nt5c2, smc3, nsd1, fgfr3, hpse2, rnaseh2a, hps1, nhp2, dctn1, uvssa, sufu, mgat2,
eif2ak3, nmnat1, sil1, kif11, mrps22, slc7a14, nphp4, slc45a2, park7, abcb4, abcb4, LOC578254, hspg2, dcaf17, cep290,
ascl1, aspm, elovl4, twnk, flt4, smarcal1, aaas, psmc3ip, eftud2, kars1, pms1, itga6, rab18, hspd1, emg1,
hfm1, bckdk, slc25a1, snap29, trim37, smarcb1, lztr1, por, LOC583929, rogdi, slc37a4, runx2, acat1, mlh1, sod1,
arl6, msh2, fancc, ercc4, eif2b2, prkcsh, eif2b3, nek8, exosc3, orc1, npr2, clpp, agl, cth, tek,
alg6, ptch1, ercc8, sptan1, c3, notch1, tsc1, lmx1b, whrn, bbs1, ush2a, vsx2, LOC754546, rnaseh2c, ercc2,
polh, banf1, otx2, LOC579215, dync1h1, pnpt1, tbce, cdan1, six1, lyst, psen1, iyd, b3galnt2, nphp1, LOC100891460,
b4gat1, sdccag8, gli3, slc35c1, epg5, crppa, rab27a, cep152, apc, idh2, iqcb1, acad9, gmppb, cln3, gns,
rab7a, msrb3, col2a1, col1a2, rxylt1, ttc21b, kansl1, dclre1c, ift122, tgfbr2, ext1, wdr35, a2m, LOC548617, rpl11,
nphp3, gmppa, dna2, wnt10b, rab3gap1, cdc6, arl2bp, pepd, dpm1, spg7, pigt, foxc1, slc52a3.2, slc52a3, recql4,
ctcf, lars2, nbn, tbc1d20, LOC581394, gnao1, anks6, galns, sall1, cdt1, snai2, pomgnt2, orc6, tpm1, galt,
nr2e3, aldh7a1, eif2b5, xpa, blm, rgs9bp, adgrv1
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
monogenic disease (is_a)