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Disease Ontology Browser
ornithine carbamoyltransferase deficiency (DOID:9271)
Alliance: disease page
Synonyms: deficiency of citrulline phosphorylase; ornithine transcarbamylase deficiency
Alt IDs: OMIM:311250, ICD10CM:E72.4, MESH:D020163, NCI:C84957, UMLS_CUI:C0268542
Definition: An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase.

Disease References using Mouse Models (10)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory