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Term:
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (DOID:9008599)
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Parent Terms Term With Siblings Child Terms
Acrootoocular Syndrome 
Adenine Nucleotide Translocator Deficiency 
Anal Sphincter Myopathy, Internal 
Arthrogryposis +   
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY  
Ataxia, Deafness, and Cardiomyopathy 
Athabaskan brainstem dysgenesis syndrome  
atrophic muscular disease +   
AUDITORY NEUROPATHY AND OPTIC ATROPHY  
Auditory Neuropathy, Nonsyndromic Recessive 
autosomal dominant cerebellar ataxia, deafness and narcolepsy  
autosomal dominant nonsyndromic deafness +   
autosomal recessive nonsyndromic deafness +   
autosomal recessive spinocerebellar ataxia 19  
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss 
Axial Myopathy, Late-Onset +   
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts 
Ayme-Gripp Syndrome  
BADS syndrome 
Bart-Pumphrey syndrome  
Bartter disease type 4A  
Bartter disease type 4b  
Berk-Tabatznik Syndrome 
Bjornstad syndrome  
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome  
Boudhina Yedes Khiari syndrome 
Brachydactyly, Intraventricular Septal Defect, and Deafness 
Brown-Vialetto-Van Laere syndrome +   
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia 
CANOMAD Syndrome 
CAPOS Syndrome  
Carey-Fineman-Ziter syndrome  
Cataract Ataxia Deafness 
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA  
Cerebellar Ataxia and Hypergonadotropic Hypogonadism 
Cerebellar Ataxia and Neurosensory Deafness 
Charcot-Marie-Tooth disease type 1E  
Charcot-Marie-Tooth disease type 2J  
Charcot-Marie-Tooth disease X-linked recessive 4  
Charcot-Marie-Tooth disease X-linked recessive 5  
Chitty Hall Baraitser Syndrome 
chronic fatigue syndrome  
chronic progressive external ophthalmoplegia +   
Chudley-Mccullough syndrome  
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts 
Combined Pituitary Hormone Deficiency, 3  
compartment syndrome +   
Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia  
Congenital Deafness, with Total Albinism 
Congenital Ectodermal Dysplasia with Hearing Loss 
congenital fibrosis of the extraocular muscles +   
Congenital Myopathy with Neuropathy and Deafness  
Contracture +   
corneal dystrophy-perceptive deafness syndrome  
cortical deafness +   
craniofacial-deafness-hand syndrome  
Craniomandibular Disorders +   
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness  
De Hauwere syndrome 
Deafness Enamel Hypoplasia Nail Defects  
Deafness Oligodontia Syndrome 
Deafness, Aminoglycoside-Induced  
Deafness, High-Frequency Sensorineural, X-Linked  
Deafness, Mid-Tone Neural 
Deafness, Progressive High-Tone Neural 
Deafness, X-Linked 1  
Deafness, X-Linked 3 
Deafness, X-Linked 4  
deafness-intellectual disability, Martin-Probst type syndrome  
diaphragm disease +   
dilated cardiomyopathy 1J  
Dimauro Disease  
distal arthrogryposis type 5  
distal arthrogryposis type 6 
Distal Renal Tubular Acidosis with Progressive Nerve Deafness  
Distal Renal Tubular Acidosis, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss  
dominant optic atrophy plus syndrome  
Donnai-Barrow syndrome  
DOORS syndrome  
Early-Onset Myopathy with Fatal Cardiomyopathy  
EAST syndrome  
Ectodermal Dysplasia and Neurosensory Deafness 
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2  
eosinophilia-myalgia syndrome  
Ermine Phenotype 
Erythrocyte Amp Deaminase Deficiency  
Erythrocyte Lactate Transporter Defect  
exophthalmic ophthalmoplegia 
External Ophthalmoplegia and Myopia 
External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation 
familial periodic paralysis +   
fibromyalgia +   
Fingerprint Body Myopathy 
Fitzsimmons Walson Mellor Syndrome 
Flynn Aird Syndrome 
Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness 
Gamstorp-Wohlfart syndrome  
Gemignani Syndrome 
Generalized Lipodystrophy, with Mental Retardation, Deafness, Short Stature, and Slender Bones 
Gonadal Dysgenesis, XX Type, with Deafness +   
Griscelli syndrome +   
Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy  
Hagemoser Weinstein Bresnick Syndrome 
Hamano Tsukamoto Syndrome 
Hearing Loss, Cisplatin-Induced  
Hearing Loss, Noise-Induced  
Hearing Loss, Unilateral Sensorineural  
Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis  
HID Syndrome  
high myopia-sensorineural deafness syndrome  
High-Frequency Hearing Loss  
histiocytosis-lymphadenopathy plus syndrome  
Hittner Hirsch Kreh Syndrome 
Homozygous 11p15-p14 Deletion Syndrome 
Hypertrophia Musculorum Vera 
hypoparathyroidism-deafness-renal disease syndrome  
Inclusion Body Myopathy 3, Autosomal Dominant  
Insulin-Like Growth Factor I Deficiency  
internuclear ophthalmoplegia 
IVIC syndrome  
Johanson-Blizzard syndrome  
Kocher-Debre-Semelaigne Syndrome 
Konigsmark Knox Hussels Syndrome 
Late-Onset Carnitine Palmitoyltransferase II Deficiency  
Leber hereditary optic neuropathy +   
Marinesco-Sjogren syndrome  
Marshall syndrome +   
Medial Tibial Stress Syndrome 
Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy 
Miles-Carpenter syndrome  
Minicore Myopathy with External Ophthalmoplegia  
mitochondrial DNA depletion syndrome 11  
Mitochondrial DNA Depletion Syndrome, Myopathic Form +   
Motor Neuron Disease with Dementia and Ophthalmoplegia 
Muscle Cramp +   
Muscle Rigidity +   
Muscle Spasticity +   
muscle tissue disease +   
Muscle Weakness +   
Muscular Hypoplasia, Congenital Universal, of Krabbe 
Musculoskeletal Pain +   
Myalgia +   
MYH-9 related disease +   
myofascial pain syndrome +   
Myopathic Carnitine Deficiency 
myopathy +   
Myopathy with Lactic Acidosis, Hereditary  
Myopathy, Granulovacuolar Lobular, with Electrical Myotonia 
MYOPATHY, SCAPULOHUMEROPERONEAL  
myositis +   
myostatin-related muscle hypertrophy  
myotonic disease +   
Myotoxicity 
Necrotizing Encephalomyelopathy, Subacute, of Leigh, Adult 
Nephropathy Deafness Hyperparathyroidism 
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness  
Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia 
neutral lipid storage disease +   
Nonsyndromic Sensorineural Hearing Loss  
ocular albinism with sensorineural deafness  
Ocular Myopathy with Curare Sensitivity 
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 10  
optic atrophy 11  
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 with Negative Electroretinograms 
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy 
Otodental Dysplasia 
Otofacioosseous-Gonadal Syndrome 
otospondylomegaepiphyseal dysplasia  
palmoplantar keratoderma-deafness syndrome  
Paragangliomas with Sensorineural Hearing Loss  
Pectoralis Muscle, Absence of 
Pendred syndrome  
Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss  
Pfeiffer Kapferer Syndrome 
Pigmentary Retinopathy and Sensorineural Deafness  
polymyalgia rheumatica  
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 
Presbycusis +   
Progressive Encephalopathy with Amyotrophy and Optic Atrophy  
Progressive External Ophthalmoplegia with Hypogonadism 
Progressive Hearing Loss Stapes Fixation  
Progressive Nephropathy with Deafness 
Progressive Ophthalmoplegia with Scrotal Tongue and Mental Deficiency 
progressive supranuclear palsy +   
Proximal Myopathy with Focal Depletion of Mitochondria 
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 
Retinitis Pigmentosa Inversa with Deafness 
Rhabdomyolysis +   
Robinson Miller Bensimon Syndrome 
Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction 
Schaap Taylor Baraitser Syndrome 
Schimke X-Linked Mental Retardation Syndrome 
Senior-Loken syndrome +   
Sensorineural Deafness and Male Infertility  
Sensorineural Deafness and Migraine  
Sensorineural Deafness with Hypertrophic Cardiomyopathy  
Sensorineural Deafness with Mild Renal Dysfunction  
Sensorineural Deafness with Peripheral Neuropathy and Arterial Disease 
Sensorineural Deafness, Autosomal-Mitochondrial Type  
Sensorineural Hearing Loss, Retinal Pigment Epithelium Lesions, Discolored Teeth 
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis  
Singleton Merten Syndrome +   
Skeletal Muscle Injuries  
Skeletal Muscle Reperfusion Injury  
Spastic Paraplegia, Optic Atrophy, and Dementia 
Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal 
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 
split hand-foot malformation 1 with sensorineural hearing loss  
Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness 
Sudden Hearing Loss  
systemic primary carnitine deficiency disease  
Tel Hashomer Camptodactyly Syndrome 
tendinitis +   
thiamine-responsive megaloblastic anemia syndrome  
Townes-Brocks syndrome +   
Treft Sanborn Carey Syndrome 
Tunglang Savage Bellman Syndrome 
Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy 
Uruguay Faciocardiomusculoskeletal Syndrome  
Usher syndrome +   
uveal coloboma-cleft lip and palate-intellectual disability  
Vacuolar Myopathy  
very long chain acyl-CoA dehydrogenase deficiency  
Vohwinkel syndrome  
Wolfram syndrome +   
Wolfram syndrome 2  
Wolfram syndrome, mitochondrial form 
X-linked nonsyndromic deafness +   

Synonyms
Primary IDs: MESH:C565117 ;   RDO:0013845

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