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Term:
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal (DOID:9001501)
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  
Amniotic Band Syndrome +  
asphyxia neonatorum +   
Ataxia and Polyneuropathy, Adult-Onset  
Ataxia Neuropathy Spectrum  
benign neonatal seizures +   
Birth Injuries +   
Bjornstad syndrome  
Caffey disease +   
carbamoyl phosphate synthetase I deficiency disease  
Carnitine Palmitoyltransferase II Deficiency, Infantile  
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal  
Childhood Myocerebrohepatopathy Spectrum 
coenzyme Q10 deficiency disease +   
Colic 
combined oxidative phosphorylation deficiency +   
Congenital Hyperinsulinism +   
congenital nystagmus +   
congenital syphilis +  
congenital toxoplasmosis 
Cowden-Like Syndrome  
Cutis Laxa-Marfanoid Syndrome 
cystic fibrosis +   
cytochrome-c oxidase deficiency disease +   
deafness-dystonia-optic neuronopathy syndrome  
Deoxyguanosine Kinase Deficiency  
early infantile epileptic encephalopathy 39  
ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2  
ethylmalonic encephalopathy  
fetal erythroblastosis +   
Friedreich ataxia +   
GRACILE syndrome  
hydrophthalmos +   
Hyperglycinemia, Transient Neonatal 
Hypermetabolism due to Defect in Mitochondria 
Hyperparathyroidism, Neonatal Severe Primary  
hypomyelinating leukodystrophy 4  
hypotonia-cystinuria syndrome  
ichthyosis +   
Infantile Hypercalcemia +   
Late-Onset Carnitine Palmitoyltransferase II Deficiency  
Leber hereditary optic neuropathy +   
Leigh disease +   
Lethal Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 1  
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation  
meconium aspiration syndrome  
Meconium Ileus  
Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency 
Mitochondrial Cardiomyopathy  
mitochondrial complex I deficiency +   
mitochondrial complex II deficiency  
mitochondrial complex III deficiency +   
mitochondrial complex V (ATP synthase) deficiency +   
Mitochondrial Cytopathy +   
mitochondrial DNA depletion syndrome +   
Mitochondrial Phosphate Carrier Deficiency  
mitochondrial pyruvate carrier deficiency  
Mobius syndrome +   
multiple acyl-CoA dehydrogenase deficiency +   
multiple mitochondrial dysfunctions syndrome +   
Myopathy with Giant Abnormal Mitochondria 
Myopathy, Cataract, Hypogonadism Syndrome 
neonatal abstinence syndrome 
Neonatal Alloimmune Thrombocytopenia  
neonatal anemia +   
neonatal diabetes mellitus +   
Neonatal Hyperbilirubinemia +   
Neonatal Hypoglycemia, Simulating Foetopathia Diabetica 
Neonatal Inflammatory Skin and Bowel Disease +   
Neonatal Pulmonary Hypertension  
Neonatal Sepsis  
Noninsulin-Dependent Diabetes Mellitus with Deafness  
ophthalmia neonatorum 
Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria 
optic atrophy 1  
Parkinson's Disease, Mitochondrial  
Pearson syndrome  
persistent fetal circulation syndrome  
Posttransfusion Purpura  
Premature Infant Diseases +   
Progressive External Ophthalmoplegia with Hypogonadism 
Proximal Myopathy with Focal Depletion of Mitochondria 
pyruvate carboxylase deficiency disease +   
pyruvate decarboxylase deficiency +   
Rothmund-Thomson syndrome +   
Sarcosinemia  
Sclerema Neonatorum 
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis  
severe combined immunodeficiency +   
Spinocerebellar Ataxia with Epilepsy  
Succinate-Coa Ligase Deficiency +   
thanatophoric dysplasia +   
transient neonatal thrombocytopenia 
umbilical hernia +   
VDAC Deficiency 
very long chain acyl-CoA dehydrogenase deficiency  
vitamin K deficiency bleeding  
Wolfram syndrome 2  
Wolman disease +   

Synonyms
Exact Synonyms: CPT II Deficiency, Lethal Neonatal ;   CPT2 Deficiency, Lethal Neonatal ;   Carnitine Palmitoyltransferase II Deficiency, Antenatal ;   Carnitine Palmitoyltransferase II Deficiency, Neonatal
Primary IDs: MESH:C563463 ;   RDO:0012711
Alternate IDs: OMIM:608836

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