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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, Metabolic hereditary disorder, inborn metabolism disorder,
Echinobase Genes
:
alg12,
cog8,
ppox,
etfb,
hmbs,
sdhd,
nfu1,
hadh,
ppm1k,
adk,
mttp,
ttc19,
hgsnat,
alg11,
ephx2,
[+]
asah1, etfdh, slc16a1, aga, alg8, gm2a, agk, coq2, asah1, tmem165, pcca, cog7, mccc1, mpdu1, ears2,
cog6, pccb, acadvl, bcs1l, mpi, alg9, gfm1, sucla2, pex1, lmbrd1, gale, tpmt, ppt1, abat, cox10,
lmf1, uqcrc2, atpaf2, slc35a1, sgsh, gck, gne, serac1, mogs, hoga1, mgat2, cox15, agxt, mrps22, manba,
sco1, ddost, d2hgdh, alg3, tymp, LOC100892337, gnptab, pdhx, pex16, twnk, hprt1, phgdh, mmut, fbxl4, mmadhc,
taco1, mmab, mrpl44, pex12, asl, tufm, ctsd, rmnd1, slc25a1, hpd, acads, gbe1, slc37a4, acat1, hlcs,
pex7, otc, LOC752050, cpox, ldlrap1, slc17a5, mmachc, dpyd, urod, LOC581408, agl, cth, alg6, dbt, gldc,
dpm2, slc3a1, abcc2, neu1, alad, ass1, pc, l2hgdh, opa3, gnmt, lrpprc, npc2, coq6, LOC579215, bckdha,
pnpt1, mgme1, xdh, mocs1, bmp2, gatm, slc35c1, idh2, psat1, fech, acad9, cln3, gns, cog5, cpt2,
taz, lyrm7, fah, rft1, gusb, auh, aass, stt3b, ethe1, slc35a2, pdhb, amt, acox1, LOC548617, uqcrb,
smpd1, stt3a, sdha, npc1, uqcc2, dlat, slc17a5, gmppa, ngly1, cps1, tsfm, cyc1, mrpl3, pepd, tat,
dpm1, gcsh, cog4, aprt, slc7a9.4, galns, stx16, galk1, ahcy, phkb, tk2, fars2, dolk, galt, ndufs4,
cog1, amacr, pts, mrps16, atp5f1a
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
disease of metabolism (is_a)