chronic progressive external ophthalmoplegia - Ontology Browser

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chronic progressive external ophthalmoplegia (DOID:12558)
Annotations: Rat: (19) Mouse: (20) Human: (24) Chinchilla: (20) Bonobo: (20) Dog: (20) Squirrel: (20) Pig: (20)

Parent Terms

Term With Siblings

Child Terms

mitochondrial myopathy + is-a

ophthalmoplegia + is-a

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 +

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

Hamano Tsukamoto Syndrome

Inclusion Body Myopathy 3, Autosomal Dominant

internuclear ophthalmoplegia

IVIC syndrome

Miles-Carpenter syndrome

Minicore Myopathy with External Ophthalmoplegia

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, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT

NARP syndrome

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, 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

autosomal dominant progressive external ophthalmoplegia 1

autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2

autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3

autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4

autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5

autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6

CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

Familial Horizontal Gaze Palsy with Progressive Scoliosis +

Kearns-Sayre syndrome

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive +

Progressive External Ophthalmoplegia with Myoclonus

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 ; chronic progressive external ophthalmoplegia with myopathy, somatic ; progressive external ophthalmoplegia with mitochondrial DNA deletions
Narrow Synonyms:	Progressive external ophthalmoplegia, proximal myopathy, and sudden death
Primary IDs:	MESH:D017246
Alternate IDs:	RDO:0005927
Xrefs:	GARD:4503 ; OMIM:PS157640
Definition Sources:	MESH:D017246

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

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