ornithine carbamoyltransferase deficiency

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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,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: otc

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010703 - ornithine carbamoyltransferase deficiency

MONDO:0010703 - ornithine carbamoyltransferase deficiency

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)