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Ontology Browser

Parent Terms Term With Siblings Child Terms
2-hydroxyglutaric aciduria +   
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency  
adrenoleukodystrophy +   
adult-onset ataxia and polyneuropathy  
Asparagine Synthetase Deficiency  
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  
Defect of Tricarboxylic Acid Cycle 
Deoxyguanosine Kinase Deficiency  
developmental and epileptic encephalopathy 39  
Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission +   
Encephalopathy, Spastic Tetraparesis, and Hypogonadism 
ethylmalonic encephalopathy  
Friedreich ataxia +   
galactosemia +   
glycine encephalopathy +   
GRACILE syndrome  
Hartnup disease  
Hereditary Central Nervous System Demyelinating Diseases +   
homocystinuria +   
Hyperglycinemia, Lactic Acidosis, and Seizures  
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 +   
A mitochondrial metabolism disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity. (DO)
Lesch-Nyhan syndrome +   
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 +   
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 +   
pyruvate kinase deficiency of red cells  
Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression  
Refsum disease +   
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis  
Silengo Lerone Pelizza Syndrome 
Spinocerebellar Ataxia with Epilepsy  
Succinate-Coa Ligase Deficiency +   
tyrosinemia +   
urea cycle disorder +   
VDAC Deficiency 
very long chain acyl-CoA dehydrogenase deficiency  
Wilson disease +   
Wolfram syndrome 2  
Zellweger syndrome +   

Exact Synonyms: Infantile Leigh Disease ;   Infantile Subacute Necrotizing Encephalopathy ;   Juvenile Leigh Disease ;   Juvenile Subacute Necrotizing Encephalopathy ;   LS ;   Leigh Syndrome ;   Leigh's Disease ;   Leighs Disease ;   Subacute Necrotizing Encephalomyelitis ;   Subacute Necrotizing Encephalomyelitis, Infantile ;   Subacute Necrotizing Encephalomyelopathies ;   Subacute Necrotizing Encephalomyelopathy ;   Subacute Necrotizing Encephalopathies ;   infantile necrotizing encephalomyelopathy ;   juvenile subacute necrotizing encephalomyelopathy ;   subacute necrotising encephalopathy of Leigh ;   subacute necrotizing encephalomyelitides ;   subacute necrotizing encephalopathy
Primary IDs: MESH:D007888
Alternate IDs: OMIA:001097 ;   OMIM:256000
Xrefs: GARD:6877 ;   ICD10CM:G31.82 ;   NCI:C84814 ;   ORDO:506
Definition Sources: "DO" "DO", "DO" "DO", "DO" "DO"

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