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Echinobase
Summary Literature (0)
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,

Echinobase Genes : otc


OMIM:
MIM:311250 - ornithine transcarbamylase deficiency, hyperammonemia due to

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): urea cycle disorder (is_a)