|
DOID:655 - inherited metabolic disorder
Disease Ontology Definition:A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.
Synonyms: inborn metabolism disorder, Inborn Errors of Metabolism, Metabolic hereditary disorder
Xenbase Genes

pdp1, ghr, bmp2, hnf4a, prickle2, fgf23.2, ctla4, fxyd2, pparg, pdx1, hnf1a, akt2, slc22a5, gata1, pax4,
hnf1b, vegfa, ins, tcf7l2, slc2a2, alas2, lyz, gsn, osmr, slc25a1, ppp1r3a, sh2b3, mrps2, asah1, tpi1,
trit1, alg2, sumf1, ndufv1, gyg1, apoe, cp, slc17a5, ptpn22, slc5a1, appl1, acads, cyp21a2.2, fastkd2, trmt10c,
fgf23, dhcr7, insr, amt, gusb, slc37a4, cetp, b2m, hjv, ppt1, elac2, abhd5, sco2, coq7, f9,
opa3, tpmt, apoa5, etfa, txn2, aass, hmbs.2, prkag2, phyh, pepd, fh, sar1b, gna11, lyrm4, fars2,
atp5f1a, nars2, cog6, pcca, pdss2, mrpl3, gnptg, ndufs8, coq6, coq8a, ppp1r17, pgk1, akr1d1, ndufs4, gamt,
ephx2, gnas, folr1, ndufa2, urod, pgm1, coq9, ggt1, ndufa10, ndufa9, ahcy, cpox, cog5, ptpn1, ada,
agxt, por, lpl, egf, atp6ap1, dpagt1, sucla2, cln8, pdha1, pc, lipa, psph, grhpr, ttpa, bckdhb,
pex10, ldlrap1, galnt3, cox10, cldn19, pex3, pdhx, cog8, lipc, hpd, pnpo, gcsh, etfb, ppm1k, ndufb9,
cyp2a6.13, xdh, klf11, sdha, abat, trmt5, hoga1, slc30a8, trpm6, man2b1, acadl, neu1, hadha, aldh4a1, dbh,
dpys, cln5, slc12a6, pign, fech, cyp11a1, ndufs1, gch1, slc46a1, fbxl4, gk, uroc1, arsb, alad, ldlr,
cog2, lamp2, apoa1, mcm6, cav3, auh, dph1, ndufv2, acaa1, cpt2, slc40a1, mmachc, lyrm7, ftcd, neurod1,
ngly1, g6pc1, fah, mocs2, acsf3, tsfm, gale, fmo3, dbt, pygm, dolk, arg1, coq2, alg8, pnpt1,
mccc1, cpn1, ssr4, qdpr, galk1, timm8a, stt3b, pex26, mpc1, sdhb, rrm2b, tcn2, cog7, ears2, nubpl,
slc25a20l, cldn16, ids, tmem165, etfdh, atpaf2, acadm, ndufb3, mmadhc, slc25a15.2, c1qbp, pex19, cox5a, mpi, stt3a,
tat, ethe1, pmm2, gatm, coa8, mrps7, slc7a7, ndufs2, pcbd1, dpm3, ndufaf5, uqcrc2, idh2, gss, cars2,
dpm1, tdo2, cat.2, acat1, pdhb, uqcrq, ass1, atp5f1d, gns, mgat2, wfs1, mtfmt, twnk, mmaa, lbr,
agk, ndufaf6, lcat, gbe1, dhtkd1, lmf1, gck, btd, otc, mcoln1, dlat, cln6, bola3, scn4a, dld,
pdss1, gfm1, gpnmb, ddc, tk2, abcd3, gmppa, cyp27a1, hgsnat, kl, slc35c1, npc1, glis3, suox, pex1,
srd5a3, manba, mccc2, itm2b, alg3, idua, slc6a8, taco1, nags, hyal1, glyctk, asl, enpp1, gtpbp3, ehhadh,
d2hgdh, tmem70, cox15, gphn, kynu, dcxr, pah, slc25a26, isca2, iba57, pex14, rtf1, pccb, phka2, phkg2,
bckdk, clpb, grn, tymp, hgd, itih4, piga, tars2, abcc8, atp6ap1.2, adk, mocs1, cln3, tpp1, ndufs3,
khk, smpd1, alg6, ugt1a1, mfsd8, mmab, mvk, gm2a, slc3a1, mrps34, cnnm2, ap2s1, uros, star, ndufaf3,
pmpcb, galc, mrpl44, mrps22, galns, pfkm, dpyd, mtr, slc35a1, cyp27a1.4, glb1, lct.2, abca1, agl, adsl,
aga, slc25a4, ndufa6, hexb, gclc, fbp1, nfu1, dpm2, slc7a9, coa6, gne, micos13, nsdhl, sgsh, mthfr,
dguok, ctns, alg1, ndufa11, mipep, cyp17a1, hadh, cyp2a6.9, bckdha, psap, ndufaf1, acox1, ndufa1, mgme1, prps1,
gla, ivd, hsd3b7, ndufs7, pex5, hal.2, hlcs, amacr, hadhb, glud1, ndufs6, ppox, tafazzin, cps1, phkb,
hsd17b4, atp7a, ogdh, ifih1, gpd2, mmut, pex16, slc1a1, pnp, slc39a8, mttp, cog1, itpr3, abcc2, hsd11b2,
aldh5a1, slc25a13, pex13, arsa.2, rnf216, slc16a1, lrpprc, ctsa, hprt1, pigt, pex12, bcs1l, aptx, b4galt1.2, rft1,
pex7, lmbrd1, psat1, gcdh, pex2, aifm1, mtnr1b, stat3.2, cel.2, gldc, ndufa12, fth1, mttp.2, coa3, maoa,
sugct, cbs, slc2a1, l2hgdh, cyp2a6.7, g6pc1.2, slc6a8l, cpt1al, capn10, coa5, alg12, pet100, cox6a2, cth, ddost,
vma22, serpina1, mrps16, cyp2a6.8, hal, cav3.2, grhpr.2, cacna1s, vkorc1, mtrr, naga, vma12, dnajc19, acox2, aprt,
ndufaf4, phgdh, sdhd, mars2, prodh, mt-co1, slc6a19, mcm6.2, cyp27a1.5, b4galt1, apob, cst3, umps, ctsf, acadvl,
acad9, kcne3, ndufb10, coq4, cyp2a6.2, cdkal1, foxred1, cyp7b1, cyp2a6, cyp2a6.3, ctsd, gdi1, pex11b, mogs, vti1a,
uqcc2, hmbs, gcgr, cat, usf1, aldob, ada.2, lct, alg11, fuca1, stx16, slc2a4, slc25a20, cox6b1, gnptab,
arsa, cyp2a6.6, ndufa13, phka1, naglu, prrt2, ndufaf2, rp1, atp1a2, rmnd1, alg9, sardh, cox20, serac1, atp7b,
vars2, pts, slc39a4, pex6, tfr2, gaa, casr, hcfc1, sco1, kcnj11, cog4, aars2, mpdu1, npc2, ttc19,
angptl3, coa7, tufm, hamp, surf1, galt, irs2, mpv17, ebp, gba1, cyc1, uqcrb, timmdc1, slc35a2, sfxn4,
foxp3, uqcc3, cox8a, mt-cyb, gnmt, mt-nd1, mt-atp6, mt-co3, mt-nd2, mt-nd3, dnajc5, cox14, mocos, pet117, mtrfr,
blk, cyp27a1.3, cat.3, g6pc1.3, apoc2, cyp2a6.10, cyp2a6.12, cyp2a6.11, cyp2a6.4, cyp2a6.5, fth1.2, cblif, alg13, atp5f1e, cpt1a,
ecm1, cst8, cyp27a1.2, mto1
MONDO:0019052 - inborn errors of metabolism |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
disease of metabolism (is_a),
genetic disease (is_a)