| 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 |
SNOMEDCT_US_2023_03_01:238002005 |
| 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 |