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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)
Parent Terms Term With Siblings Child Terms
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency  
Alpers syndrome +   
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 +   
Finnish Lethal Neonatal Metabolic Syndrome  
Friedreich ataxia +   
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 Syndromes +   
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, Autosomal Dominant  
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 
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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