Disease Information

GTO ID(s) GTC3758
Disease NameOrnithine Transcarbamylase Deficiency Disease
Synonymsornithine carbamoyltransferase deficiency, hyperammonemia-hyperornithinemia-homocitrullinemia syndrome, ornithine transcarbamylase deficiency, ornithine carbamoyltransferase deficiency disease, ornithine transcarbamylase deficiency, hyperammonemia due to
DefinitionDO:An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase.
Xref DO:9271 | EFO:0007409 | MONDO:0010703 | MSH:D020163 | NCI:C84957 | OMIM:311250 | ORDO:664
Disease GroupGenetic Disease

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