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DOID:630 - genetic disease
Disease Ontology Definition:A disease that has_material_basis_in genetic variations in the human genome.
Synonyms:
Echinobase Genes

atrx, dync2h1, nek1, xpnpep3, LOC105444109, wdr19, rnaseh2b, ift80, myo7a, ccdc39, bcs1l, cep63, cspp1, eya1, tfap2a,
klf11, dnai2, dnaaf5, flcn, ercc6, ift140, nog, abcc6, smc3, nsd1, fgfrl1, fgfr3, hpse2, rnaseh2a, hps1,
gck, letm1, uvssa, sufu, eif2ak3, sil1, nphp4, slc45a2, pde6d, hspg2, cep290, tmem138, pax6, aaas, eftud2,
pms1, rab18, emg1, bckdk, mks1, tbx1, snap29, trim37, hnf1a, por, efnb1, dnaaf3, cfap298, acat1, pex7,
arl13b, mlh1, arl6, msh2, ercc4, prkcsh, cplane1, nek8, orc1, clpp, tek, ptch1, ercc8, tsc1, lmx1b,
whrn, rsph9, bbs1, ush2a, rnaseh2c, ercc2, polh, LOC591748, tbce, six1, lyst, nphp1, LOC100891460, sdccag8, gnpat,
dnal1, slc35c1, epg5, rab27a, cep152, apc, iqcb1, gata3, cep41, ebp, zmynd10, agps, porcn, col2a1, ttc21b,
smc1a, ift122, tgfbr2, wdr35, drc1, nphp3, armc4, spag1, rad21, dna2, ccdc103, rab3gap1, cdc6, tmem67, rpgrip1l,
foxc1, slc52a3.2, slc52a3, recql4, hnf4a, lars2, nbn, tbc1d20, tmem231, anks6, sall1, cdt1, snai2, orc6, dnah5,
dnai1, xpa, blm, ddx59, adgrv1
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
disease (is_a)