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Metadata
ID DOID:0060235
Name carnitine palmitoyltransferase II deficiency
Definition A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria.
http://en.wikipedia.org/wiki/Carnitine_palmitoyltransferase_II_deficiency, http://ghr.nlm.nih.gov/condition/carnitine-palmitoyltransferase-ii-deficiency
Xrefs

MESH:C535589

MIM:255110

MIM:600649

MIM:608836

NCI:C114766

ORDO:157

SNOMEDCT_US_2023_03_01:238002005

UMLS_CUI:C0342790

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

CPT-II [EXACT]

infantile carnitine palmitoyltransferase II deficiency [EXACT]

late-onset carnitine palmitoyltransferase II deficiency [EXACT]

lethal neonatal carnitine palmitoyltransferase II deficiency [EXACT]

Parent Relationships

is_a lipid metabolism disorder

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