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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: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)