OBO ID: DOID:0060235
Term Name: carnitine palmitoyltransferase II deficiency Search Ontology:
Synonyms:
  • 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:
Ontology: Human Disease   ( DOID:0060235 )
Relationships
is a type of:
OTHER carnitine palmitoyltransferase II deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CPT2 CPT II deficiency, infantile 600649
CPT II deficiency, lethal neonatal 608836
CPT II deficiency, myopathic, stress-induced 255110
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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