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Disease Ontology Browser
carbamoyl phosphate synthetase I deficiency disease (DOID:9280)
Alliance: disease page
Synonyms: CPS I deficiency
Alt IDs: OMIM:237300, MESH:D020165, NCI:C84612, UMLS_CUI:C0751753
Definition: A urea cycle disorder that involves accumulation of ammonia in the blood.

Disease References using Mouse Models (1)
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
12/10/2024
MGI 6.24 		The Jackson Laboratory