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Ontology Browser

Term:
Lethal Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 1 (DOID:9006270)
Annotations: Rat: (4) Mouse: (4) Human: (4) Chinchilla: (4) Bonobo: (4) Dog: (4) Squirrel: (4) Pig: (4)
Parent Terms Term With Siblings Child Terms
2-hydroxyglutaric aciduria +   
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency  
adrenoleukodystrophy +   
Asparagine Synthetase Deficiency  
Ataxia and Polyneuropathy, Adult-Onset  
Ataxia Neuropathy Spectrum  
Bjornstad syndrome  
branched-chain keto acid dehydrogenase kinase deficiency  
carbamoyl phosphate synthetase I deficiency disease  
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal  
Childhood Myocerebrohepatopathy Spectrum 
coenzyme Q10 deficiency disease +   
combined oxidative phosphorylation deficiency +   
Cowden-Like Syndrome  
creatine transporter deficiency  
CST3-related cerebral amyloid angiopathy +   
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  
Encephalopathy, Spastic Tetraparesis, and Hypogonadism 
ethylmalonic encephalopathy  
Friedreich ataxia +   
galactosemia +   
glycine encephalopathy +   
GRACILE syndrome  
Hartnup disease  
Hereditary Central Nervous System Demyelinating Diseases +   
homocarnosinosis  
homocystinuria +   
hyperlysinemia +   
Hypermetabolism due to Defect in Mitochondria 
hypomyelinating leukodystrophy 4  
hypotonia-cystinuria syndrome  
Late-Onset Carnitine Palmitoyltransferase II Deficiency  
Leber hereditary optic neuropathy +   
Leigh disease +   
Lesch-Nyhan syndrome +   
Lethal Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 1  
An autosomal dominant disorder characterized by delayed psychomotor development and hypotonia that may lead to death in childhood. (OMIM)
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation  
Lysosomal Storage Diseases, Nervous System +   
maple syrup urine disease +   
Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency 
MELAS syndrome +   
Menkes disease +   
MERRF Syndrome +   
Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression  
mevalonic aciduria  
Microphthalmia and Mental 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  
multiple acyl-CoA dehydrogenase deficiency +   
multiple mitochondrial dysfunctions syndrome +   
Myopathy with Giant Abnormal Mitochondria 
Myopathy, Cataract, Hypogonadism Syndrome 
Noninsulin-Dependent Diabetes Mellitus with Deafness  
oculocerebrorenal syndrome +   
Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria 
optic atrophy 1  
Parkinson's Disease, Mitochondrial  
Pearson syndrome  
phenylketonuria +   
Progressive External Ophthalmoplegia with Hypogonadism 
Proximal Myopathy with Focal Depletion of Mitochondria 
pyruvate carboxylase deficiency disease +   
pyruvate decarboxylase deficiency +   
Refsum disease +   
Sarcosinemia  
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis  
Silengo Lerone Pelizza Syndrome 
Spinocerebellar Ataxia with Epilepsy  
Succinate-Coa Ligase Deficiency +   
Tricarboxylic Acid Cycle, Defect of 
tyrosinemia +   
urea cycle disorder +   
VDAC Deficiency 
very long chain acyl-CoA dehydrogenase deficiency  
Wilson disease +   
Wolfram syndrome 2  
Zellweger syndrome +   

Synonyms
Exact Synonyms: EMPF ;   EMPF1 ;   ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 ;   lethal encephalopathy due to defective mitochondrial and peroxisomal fission
Primary IDs: OMIM:614388
Alternate IDs: RDO:9000287

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