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Leber hereditary optic neuropathy (DOID:705)
Annotations: Rat: (27) Mouse: (29) Human: (29) Chinchilla: (16) Bonobo: (16) Dog: (27) Squirrel: (16) Pig: (27)
Parent Terms Term With Siblings Child Terms
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency  
adult-onset ataxia and polyneuropathy  
Auditory Neuropathy and Optic Atrophy  
Berk-Tabatznik Syndrome 
Bjornstad syndrome  
Bosch-Boonstra-Schaaf optic atrophy syndrome  
carbamoyl phosphate synthetase I deficiency disease  
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal  
Charcot-Marie-Tooth disease X-linked recessive 5  
Childhood Myocerebrohepatopathy Spectrum  
coenzyme Q10 deficiency disease +   
combined oxidative phosphorylation deficiency +   
Cowden-Like Syndrome  
cytochrome-c oxidase deficiency disease +   
deafness-dystonia-optic neuronopathy syndrome  
Deoxyguanosine Kinase Deficiency  
developmental and epileptic encephalopathy 39  
dominant optic atrophy plus syndrome  
Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission +   
ethylmalonic encephalopathy  
Friedreich ataxia +   
Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness 
GAPO syndrome  
GRACILE syndrome  
Hagemoser Weinstein Bresnick Syndrome 
Hypermetabolism due to Defect in Mitochondria 
hypomyelinating leukodystrophy 4  
hypotonia-cystinuria syndrome  
Konigsmark Knox Hussels Syndrome 
Late-Onset Carnitine Palmitoyltransferase II Deficiency  
Leber hereditary optic neuropathy +   
A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision loss leading to central scotoma and blindness. The disease has been associated with missense mutations in the mtDNA, in genes for Complex I, III, and IV polypeptides, that can act autonomously or in association with each other to cause the disease. (from Online Mendelian Inheritance in Man,, MIM#535000 (April 17, 2001))
Leigh disease +   
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation  
Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency 
Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy 
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  
Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria 
optic atrophy 1  
optic atrophy 10  
optic atrophy 11  
optic atrophy 12  
Optic Atrophy 13  
optic atrophy 2 
optic atrophy 3  
optic atrophy 4 
optic atrophy 5  
optic atrophy 6 
optic atrophy 7  
optic atrophy 8 
optic atrophy 9  
Optic Atrophy Spastic Paraplegia Syndrome 
Optic Atrophy with Demyelinating Disease of CNS 
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy 
Parkinson's Disease, Mitochondrial  
Pearson syndrome  
Progressive Encephalopathy with Amyotrophy and Optic Atrophy  
Progressive External Ophthalmoplegia with Hypogonadism 
Proximal Myopathy with Focal Depletion of Mitochondria 
pyruvate carboxylase deficiency disease +   
pyruvate decarboxylase deficiency +   
Senior-Loken syndrome +   
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis  
Spastic Paraplegia, Optic Atrophy, and Dementia 
Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal 
Spinocerebellar Ataxia with Epilepsy  
Subacute Necrotizing Encephalomyelopathy of Leigh, Adult 
Succinate-Coa Ligase Deficiency +   
VDAC Deficiency 
very long chain acyl-CoA dehydrogenase deficiency  
Wolfram syndrome +   
Wolfram syndrome 2  

Exact Synonyms: LEBER HEREDITARY OPTIC NEUROPATHY, MODIFIER OF ;   LEBER OPTIC ATROPHY, SUSCEPTIBILITY TO ;   LHON ;   LOAS ;   Leber Disease ;   Leber Optic Atrophy ;   Leber Optic Atrophy and Dystonia ;   Leber Optic Neuropathy ;   Leber hereditary optic atrophy ;   Leber's Disease ;   Leber's Diseases ;   Leber's Hereditary Optic Atrophy ;   Leber's Hereditary Optic Neuropathy ;   Leber's Optic Atrophy ;   Leber's Optic Neuropathy ;   Lebers Disease ;   Lebers optic neuropathy ;   hereditary optic neuroretinopathies ;   hereditary optic neuroretinopathy ;   optic atrophy, Leber type
Related Synonyms: LHON, modifier of
Primary IDs: MESH:D029242
Alternate IDs: OMIM:308905 ;   OMIM:535000
Xrefs: GARD:6870 ;   ICD10CM:H47.22 ;   NCI:C84808
Definition Sources: MESH:D029242

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