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Disease Ontology Browser
carnitine palmitoyltransferase II deficiency (DOID:0060235)
Alliance: disease page
Synonyms: CPT-II; infantile carnitine palmitoyltransferase II deficiency; late-onset carnitine palmitoyltransferase II deficiency; lethal neonatal carnitine palmitoyltransferase II deficiency
Alt IDs: OMIM:255110, OMIM:600649, OMIM:608836, MESH:C535589, NCI:C114766, ORDO:157, UMLS_CUI:C0342790
Definition: A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria.

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