Search Ontology:
Human Disease
carnitine palmitoyltransferase II deficiency
- Term ID
- DOID:0060235
- Synonyms
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- CPT-II
- infantile carnitine palmitoyltransferase II deficiency
- late-onset carnitine palmitoyltransferase II deficiency
- lethal neonatal 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. (2)
- References
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- MESH:C535589
- MIM:255110
- MIM:600649
- MIM:608836
- NCI:C114766
- ORDO:157
- SNOMEDCT_US_2023_03_01:238002005
- UMLS_CUI:C0342790
- Ontology
- Human Disease ( DOID:0060235 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models