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Ontology Browser
Term:
carnitine palmitoyltransferase II deficiency (DOID:0060235)
Annotations: Rat: (3) Mouse: (3) Human: (4) Chinchilla: (2) Bonobo: (3) Dog: (3) Squirrel: (3) Pig: (3) Naked Mole-rat: (3) Green Monkey: (3)
Parent Terms Term With Siblings Child Terms
2,4-Dienoyl-CoA Reductase Deficiency  
Acetyl-Coa Carboxylase Deficiency  
alpha-methylacyl-CoA racemase deficiency  
APOLIPOPROTEIN A-II DEFICIENCY  
Apolipoprotein E, Deficiency or Defect of +   
Barth syndrome +   
carnitine palmitoyltransferase I deficiency  
carnitine palmitoyltransferase II deficiency +   
A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria. (DO)
carnitine-acylcarnitine translocase deficiency  
cerebrotendinous xanthomatosis  
CK syndrome  
Congenital Lp(A) Deficiency  
Cytosolic Acetoacetyl-CoA Thiolase Deficiency  
Desmosterolosis  
Dyslipidemias +   
familial combined hyperlipidemia +   
familial hyperlipidemia +   
Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets  
Glycosylphosphatidylinositol Deficiency +   
Hepatic Lipase Deficiency  
Hypertriglyceridemia, Transient Infantile  
hypolipoproteinemia +   
lipid storage disease +   
lipodystrophy +   
lipoid proteinosis  
lipomatosis +   
Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency +   
medium chain acyl-CoA dehydrogenase deficiency  
MEND syndrome  
multiple congenital anomalies-hypotonia-seizures syndrome +   
Myopathy with Abnormal Lipid Metabolism  
Pancreatic Lipase Deficiency  
peroxisomal acyl-CoA oxidase deficiency  
Refsum disease +   
rhizomelic chondrodysplasia punctate type 4  
short chain acyl-CoA dehydrogenase deficiency  
Smith-Lemli-Opitz syndrome +   
steroid inherited metabolic disorder +   
syndromic X-linked intellectual disability type 10  
Triglyceride Storage Disease, Type I 
Triglyceride Storage Disease, Type II 
very long chain acyl-CoA dehydrogenase deficiency  
xanthomatosis +   

Synonyms
Exact Synonyms: CPT II deficiency ;   CPT-II ;   CPT2 deficiency ;   carnitine palmitoyl transferase 2 deficiency ;   carnitine palmitoyltransferase 2 deficiency ;   carnitine palmitoyltransferase deficiency type 2 ;   infantile carnitine palmitoyltransferase II deficiency ;   lethal neonatal carnitine palmitoyltransferase II deficiency ;   muscle form of carnitine palmitoyltransferase deficiency
Broad Synonyms: CARNITINE DEFICIENCY
Primary IDs: MESH:C535589
Alternate IDs: RDO:0000806
Xrefs: NCI:C114766 ;   ORDO:157
Definition Sources: http://en.wikipedia.org/wiki/Carnitine_palmitoyltransferase_II_deficiency "DO" "DO", http://ghr.nlm.nih.gov/condition/carnitine-palmitoyltransferase-ii-deficiency "DO" "DO"

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