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Summary Literature (0)
DOID:0060235 - carnitine palmitoyltransferase II deficiency

Disease Ontology Definition:A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria.

Synonyms: CPT-II, infantile carnitine palmitoyltransferase II deficiency, late-onset carnitine palmitoyltransferase II deficiency, lethal neonatal carnitine palmitoyltransferase II deficiency,

Xenbase Genes : cpt2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0015515 - carnitine palmitoyltransferase II deficiency


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

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