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Term:
Carnitine Palmitoyltransferase II Deficiency, Infantile (DOID:9007668)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency  
adrenocorticotropic hormone deficiency  
Alcoholic Liver Diseases +   
alpha 1-antitrypsin deficiency  
alveolar echinococcosis  
Budd-Chiari syndrome +   
capillariasis 
carnitine palmitoyltransferase I deficiency  
Carnitine Palmitoyltransferase II Deficiency, Infantile  
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal  
clonorchiasis  
COACH syndrome  
Congenital Hyperinsulinism +   
Cyanosis and Hepatic Disease 
cystic echinococcosis  
fatty liver disease +   
Focal Nodular Hyperplasia 
Glycogen Storage Disease 0, Liver  
glycogen storage disease IX +   
glycogen storage disease VI  
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY  
GSD IV, Nonprogressive Hepatic 
Hepatic Insufficiency +   
Hepatic Porphyrias +   
hepatic tuberculosis 
hepatic vascular disease +   
hepatitis +   
Hepatomegaly +   
hepatopulmonary syndrome  
hepatorenal syndrome  
Hirata disease 
Hypoglycemia, Leucine-Induced  
Hypoinsulinemic Hypoglycemia with Hemihypertrophy  
Insulin Coma 
intrahepatic cholestasis +   
Late-Onset Carnitine Palmitoyltransferase II Deficiency  
Liver Abscess +   
liver carcinoma in situ 
liver cirrhosis +   
Liver Fibrocystic Disease and Polydactyly 
liver inflammatory pseudotumor 
Liver Injury +   
Liver Neoplasms +   
mitochondrial DNA depletion syndrome 6  
Neonatal Hypoglycemia, Simulating Foetopathia Diabetica 
opisthorchiasis  
paragonimiasis 
Parasitic Liver Diseases +   
peliosis hepatis  
Phosphoenolpyruvate Carboxykinase Deficiency +   
polycystic echinococcosis 
polycystic liver disease +   
portal hypertension +   
Pseudo-TORCH Syndrome 2  
Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations  
renal-hepatic-pancreatic dysplasia +   
Retinohepatoendocrinologic Syndrome 
toxocariasis +   
Trichohepatoneurodevelopmental Syndrome  
tyrosinemia type II  
visceral leishmaniasis  
Wilson disease +   
Zellweger syndrome +   

Synonyms
Exact Synonyms: carnitine palmitoyltransferase II deficiency with hypoketotic hypoglycemia ;   hepatic CPT II deficiency ;   hepatocardiomuscular carnitine palmitoyltransferase II deficiency ;   infantile CPT2 deficiency
Primary IDs: MESH:C563462
Alternate IDs: OMIM:600649 ;   RDO:0012710

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.