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Summary Literature (1)
DOID:9267 - urea cycle disorder

Disease Ontology Definition:An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream.

Synonyms: disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia, disorder of urea cycle metabolism, urea cycle defect,

Xenbase Genes : arg1, ass1, otc, nags, cps1, slc25a13

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0004739 - urea cycle disorder


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): amino acid metabolic disorder (is_a)