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DOID:9271 - ornithine carbamoyltransferase deficiency
Disease Ontology Definition:An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase.
Synonyms: deficiency of citrulline phosphorylase, ornithine transcarbamylase deficiency
Xenbase Genes
:
otc
| MONDO:0010703 - forelimb zeugopod skeleton |
| MIM:311250 - ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
urea cycle disorder (is_a)