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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
mitochondrial myopathy +     
ophthalmoplegia +     
Adenine Nucleotide Translocator Deficiency 
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY  
CANOMAD Syndrome 
chronic progressive external ophthalmoplegia +   
A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)
combined oxidative phosphorylation deficiency 3  
congenital fibrosis of the extraocular muscles +   
congenital myopathy 1B  
congenital myopathy 6  
distal arthrogryposis type 5  
Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy  
exophthalmic ophthalmoplegia 
External Ophthalmoplegia and Myopia 
External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation 
Familial Static Ophthalmoplegia 
Hamano Tsukamoto Syndrome 
internuclear ophthalmoplegia 
isolated mitochondrial myopathy  
IVIC syndrome  
Miles-Carpenter syndrome +   
mitochondrial DNA depletion syndrome 11  
mitochondrial DNA depletion syndrome 12a  
mitochondrial DNA depletion syndrome 12b  
mitochondrial DNA depletion syndrome 14  
mitochondrial DNA depletion syndrome 15  
Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive +   
mitochondrial encephalomyopathy +   
Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport 
Mitochondrial Myopathy with Diabetes 
Mitochondrial Myopathy with Lactic Acidosis  
Mitochondrial Myopathy, and Ataxia  
Mitochondrial Myopathy, Infantile, Transient  
Mitochondrial Myopathy, Lethal Infantile  
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay  
Motor Neuron Disease with Dementia and Ophthalmoplegia 
myopathy, lactic acidosis, and sideroblastic anemia +   
NARP syndrome  
Ocular Myopathy with Curare Sensitivity 
Ophthalmoplegia Totalis with Ptosis and Miosis 
OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES  
Ophthalmoplegia, Familial Total, with Iris Transillumination 
Ophthalmoplegic Migraine 
Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria 
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy 
Progressive External Ophthalmoplegia with Hypogonadism 
Progressive Ophthalmoplegia with Scrotal Tongue and Mental Deficiency 
progressive supranuclear palsy +   
Schimke X-Linked Mental Retardation Syndrome 
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis  
Treft Sanborn Carey Syndrome 

Synonyms
Exact Synonyms: CPEO ;   Graefe Disease ;   Graefe's Disease ;   Mitochondrial Ocular Myopathy ;   Ocular Muscular Dystrophies ;   Ocular Muscular Dystrophy ;   Ocular Myopathy of Von Graefe Fuchs ;   Progressive external ophthalmoplegia
Narrow Synonyms: chronic progressive external ophthalmoplegia with myopathy, somatic ;   progressive external ophthalmoplegia with mitochondrial DNA deletions
Related Synonyms: progressive external ophthalmoplegia, proximal myopathy, and sudden death
Primary IDs: MESH:D017246
Xrefs: EFO:0002509 ;   GARD:4503 ;   ICD10CM:H49.4 ;   ICD9CM:378.72 ;   OMIM:PS157640
Definition Sources: MESH:D017246

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