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Term:
Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (DOID:9007312)
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Parent Terms Term With Siblings Child Terms
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency  
Adenine Nucleotide Translocator Deficiency 
Anal Sphincter Myopathy, Internal 
Arthrogryposis +   
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY  
Ataxia and Polyneuropathy, Adult-Onset  
Ataxia Neuropathy Spectrum  
atrophic muscular disease +   
Axial Myopathy, Late-Onset +   
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts 
Bjornstad syndrome  
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia 
CANOMAD Syndrome 
carbamoyl phosphate synthetase I deficiency disease  
Carey-Fineman-Ziter syndrome  
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal  
Childhood Myocerebrohepatopathy Spectrum 
chronic fatigue syndrome  
chronic progressive external ophthalmoplegia +   
coenzyme Q10 deficiency disease +   
combined oxidative phosphorylation deficiency +   
compartment syndrome +   
congenital fibrosis of the extraocular muscles +   
Congenital Myopathy with Neuropathy and Deafness  
Contracture +   
Cowden-Like Syndrome  
Craniomandibular Disorders +   
cytochrome-c oxidase deficiency disease +   
deafness-dystonia-optic neuronopathy syndrome  
Deoxyguanosine Kinase Deficiency  
diaphragm disease +   
Dimauro Disease  
early infantile epileptic encephalopathy 39  
Early-Onset Myopathy with Fatal Cardiomyopathy  
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2  
ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2  
eosinophilia-myalgia syndrome  
Erythrocyte Amp Deaminase Deficiency  
Erythrocyte Lactate Transporter Defect  
ethylmalonic encephalopathy  
exophthalmic ophthalmoplegia 
External Ophthalmoplegia and Myopia 
External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation 
familial periodic paralysis +   
fibromyalgia +   
Fingerprint Body Myopathy 
Friedreich ataxia +   
Gamstorp-Wohlfart syndrome  
GRACILE syndrome  
Hamano Tsukamoto Syndrome 
Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis  
Hypermetabolism due to Defect in Mitochondria 
Hypertrophia Musculorum Vera 
hypomyelinating leukodystrophy 4  
hypotonia-cystinuria syndrome  
Inclusion Body Myopathy 3, Autosomal Dominant  
internuclear ophthalmoplegia 
IVIC syndrome  
Kocher-Debre-Semelaigne Syndrome 
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  
Marinesco-Sjogren syndrome  
Medial Tibial Stress Syndrome 
Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency 
Miles-Carpenter syndrome  
Minicore Myopathy with External Ophthalmoplegia  
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 DNA depletion syndrome 11  
Mitochondrial DNA Depletion Syndrome, Myopathic Form +   
Mitochondrial Phosphate Carrier Deficiency  
mitochondrial pyruvate carrier deficiency  
Motor Neuron Disease with Dementia and Ophthalmoplegia 
multiple acyl-CoA dehydrogenase deficiency +   
multiple mitochondrial dysfunctions syndrome +   
Muscle Cramp +   
Muscle Rigidity +   
Muscle Spasticity +   
muscle tissue disease +   
Muscle Weakness +   
Muscular Hypoplasia, Congenital Universal, of Krabbe 
Musculoskeletal Pain +   
Myalgia +   
myofascial pain syndrome +   
Myopathic Carnitine Deficiency 
myopathy +   
Myopathy with Giant Abnormal Mitochondria 
Myopathy with Lactic Acidosis, Hereditary  
Myopathy, Cataract, Hypogonadism Syndrome 
Myopathy, Granulovacuolar Lobular, with Electrical Myotonia 
MYOPATHY, SCAPULOHUMEROPERONEAL  
myositis +   
myostatin-related muscle hypertrophy  
myotonic disease +   
neutral lipid storage disease +   
Noninsulin-Dependent Diabetes Mellitus with Deafness  
Ocular Myopathy with Curare Sensitivity 
Oculomelic Amyoplasia  
Ophthalmoplegia Totalis with Ptosis and Miosis 
Ophthalmoplegia, Familial Static 
Ophthalmoplegia, Familial Total, with Iris Transillumination 
Ophthalmoplegic Migraine 
Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria 
optic atrophy 1  
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy 
Parkinson's Disease, Mitochondrial  
Pearson syndrome  
Pectoralis Muscle, Absence of 
Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss  
polymyalgia rheumatica  
Progressive External Ophthalmoplegia with Hypogonadism 
Progressive Ophthalmoplegia with Scrotal Tongue and Mental Deficiency 
progressive supranuclear palsy +   
Proximal Myopathy with Focal Depletion of Mitochondria 
pyruvate carboxylase deficiency disease +   
pyruvate decarboxylase deficiency +   
Rhabdomyolysis +   
Sarcosinemia  
Schimke X-Linked Mental Retardation Syndrome 
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis  
Singleton Merten Syndrome +   
Skeletal Muscle Injuries  
Skeletal Muscle Reperfusion Injury  
Spinocerebellar Ataxia with Epilepsy  
Succinate-Coa Ligase Deficiency +   
systemic primary carnitine deficiency disease  
Tel Hashomer Camptodactyly Syndrome 
tendinitis +   
Treft Sanborn Carey Syndrome 
Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy 
Uruguay Faciocardiomusculoskeletal Syndrome  
Vacuolar Myopathy  
VDAC Deficiency 
very long chain acyl-CoA dehydrogenase deficiency  
Wolfram syndrome 2  

Synonyms
Primary IDs: MESH:C564925 ;   RDO:0013721

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