Disease Information

GTO ID(s) GTC3758
Disease NameInborn Urea Cycle Disorder
Synonymsurea cycle disorder, carbamoyl phosphate synthetase i deficiency disease, disorders of urea cycle metabolism, disorder of urea cycle metabolism, unspecified, hyperammonemia, dis urea cycle metabol, urea cycle disorders, inborn, inborn urea cycle disorder, urea cycle metabolism disorder
DefinitionDO: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.
Xref DO:9267 | EFO:0007193 | ICD10:E72.2 | MONDO:0004739 | MSH:D056806 | NCI:C84785
Disease GroupGenetic Disease

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