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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 Errors of Metabolism, inborn metabolism disorder, Metabolic hereditary disorder
Xenbase Genes : slc5a1.2, suclg1, pygl, mapk8ip1, irs1, fga, polg, bmp6, app, ttr, il6, tf, cyp21a2.1, stat3, prdx1, [+]
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.1, lipa, psph, grhpr.1, ttpa, bckdhb,
pex10, ldlrap1, galnt3, cox10, cldn19, pex3, pdhx, pygm, 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, cav3.1, auh, dph1, ndufv2, acaa1, cpt2, slc40a1, mmachc, lyrm7, ftcd,
neurod1, ngly1, g6pc1, fah, mocs2, acsf3, tsfm, gale, fmo3, dbt, 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, 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, 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, pmm2, 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, fth1.1, mttp.2, maoa, sugct, cbs,
slc2a1, pc.2, l2hgdh, cyp2a6.7, g6pc1.2, slc6a8l, cpt1al, capn10, coa5, alg12, pet100, cox6a2, cth, ddost, serpina1,
mrps16, cyp2a6.8, hal.1, cav3.2, grhpr.2, cacna1s, vkorc1, mtrr, naga, tmem199, dnajc19, acox2, aprt, ndufaf4, phgdh,
sdhd, mars2, prodh, mt-co1, slc6a19, mcm6.2, cyp27a1.5 (prov), b4galt1.1, 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.1, usf1, aldob, ada.2, lct.1, alg11, fuca1, stx16, slc2a4, slc25a20, cox6b1, gnptab, arsa.1, 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, cyp27a1.2
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)